#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	100995386	100995386	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	
GOT1	2805	broad.mit.edu	37	10	101163356	101163356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:101163356C>A	ENST00000370508.5	-	7	856	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	GOT1_ENST00000543866.1_Nonsense_Mutation_p.E256*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	277					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.E277*(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CTCTCAGGTTCTTTTCCAACC	0.557																																					p.E277X	Melanoma(173;770 3544 21601)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G829T	10						.						96.0	91.0	93.0					10																	101163356		2203	4300	6503	101153346	SO:0001587	stop_gained	2805	exon7			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.829G>T	10.37:g.101163356C>A	ENSP00000359539:p.Glu277*		101153346	NM_002079	B2R6R7|B7Z7E9|Q5VW80	Nonsense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	37	6.300439	0.97453	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	.	.	.	5.03	5.03	0.67393	.	0.198027	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.3713	18.7783	0.91920	0.0:1.0:0.0:0.0	.	.	.	.	X	277;230;256	.	ENSP00000359539:E277X	E	-	1	0	GOT1	101153346	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	6.042000	0.70996	2.498000	0.84270	0.558000	0.71614	GAA		0.557	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079	
SLC25A28	81894	broad.mit.edu	37	10	101373638	101373638	+	Missense_Mutation	SNP	C	C	T	rs375360825		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:101373638C>T	ENST00000370495.4	-	2	363	c.335G>A	c.(334-336)cGc>cAc	p.R112H	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	112					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R112H(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAACACATTGCGATAGCGGGC	0.587																																					p.R112H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335A	10						.	C	HIS/ARG	1,3961		0,1,1980	27.0	29.0	29.0		335	5.3	1.0	10		29	0,8326		0,0,4163	no	missense	SLC25A28	NM_031212.3	29	0,1,6143	TT,TC,CC		0.0,0.0252,0.0081	probably-damaging	112/365	101373638	1,12287	1981	4163	6144	101363628	SO:0001583	missense	81894	exon2			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.335G>A	10.37:g.101373638C>T	ENSP00000359526:p.Arg112His		101363628	NM_031212	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607065	0.87157	2.52E-4	0.0	ENSG00000155287	ENST00000370495	T	0.79653	-1.29	5.26	5.26	0.73747	Mitochondrial carrier domain (2);	0.127662	0.53938	D	0.000059	D	0.85044	0.5607	L	0.52126	1.63	0.53688	D	0.999975	D	0.62365	0.991	P	0.56788	0.806	D	0.85121	0.0969	10	0.51188	T	0.08	-39.9998	18.6487	0.91421	0.0:1.0:0.0:0.0	.	112	Q96A46	MFRN2_HUMAN	H	112	ENSP00000359526:R112H	ENSP00000359526:R112H	R	-	2	0	SLC25A28	101363628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.580000	0.67464	2.735000	0.93741	0.561000	0.74099	CGC		0.587	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212	
ENTPD7	57089	broad.mit.edu	37	10	101464282	101464282	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:101464282C>A	ENST00000370489.4	+	13	1835	c.1657C>A	c.(1657-1659)Ctc>Atc	p.L553I	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	553						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L553I(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)		CAACCACTATCTCTTCTTTGC	0.502																																					p.L553I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1657A	10						.						206.0	167.0	180.0					10																	101464282		2203	4300	6503	101454272	SO:0001583	missense	57089	exon13			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.1657C>A	10.37:g.101464282C>A	ENSP00000359520:p.Leu553Ile		101454272	NM_020354	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854386	0.71719	.	.	ENSG00000198018	ENST00000370489	T	0.16457	2.34	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.41581	0.1165	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.13737	-1.0498	10	0.48119	T	0.1	-6.6385	18.4762	0.90793	0.0:1.0:0.0:0.0	.	553	Q9NQZ7	ENTP7_HUMAN	I	553	ENSP00000359520:L553I	ENSP00000359520:L553I	L	+	1	0	ENTPD7	101454272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.777000	0.62361	2.619000	0.88677	0.561000	0.74099	CTC		0.502	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354	
CUTC	51076	broad.mit.edu	37	10	101502982	101502982	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:101502982T>A	ENST00000370476.5	+	4	395	c.266T>A	c.(265-267)tTt>tAt	p.F89Y	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	89					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)	p.F89Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGAGGTGATTTTTTGTATTCA	0.418																																					p.F89Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T266A	10						.						233.0	215.0	221.0					10																	101502982		2203	4300	6503	101492972	SO:0001583	missense	51076	exon4			AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.266T>A	10.37:g.101502982T>A	ENSP00000359507:p.Phe89Tyr		101492972	NM_015960	Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	T	35	5.519027	0.96416	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	6.07	6.07	0.98685	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89983	0.4102	9	0.87932	D	0	-19.2195	16.635	0.85050	0.0:0.0:0.0:1.0	.	89;89	B4DYM2;Q9NTM9	.;CUTC_HUMAN	Y	89;26	.	ENSP00000359503:F26Y	F	+	2	0	CUTC	101492972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.924000	0.87555	2.330000	0.79161	0.477000	0.44152	TTT		0.418	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960	
ABCC2	1244	broad.mit.edu	37	10	101563999	101563999	+	Missense_Mutation	SNP	C	C	T	rs201399138		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:101563999C>T	ENST00000370449.4	+	10	1546	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	478	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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.A478V(2)		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)	CCAATTAATGCGATACTGTCC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		22246	0.0		0.0	False		,,,				2504	0.001				p.A478V												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C1433T	10						.						180.0	166.0	171.0					10																	101563999		2203	4300	6503	101553989	SO:0001583	missense	1244	exon10			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.1433C>T	10.37:g.101563999C>T	ENSP00000359478:p.Ala478Val		101553989	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081611	0.36758	.	.	ENSG00000023839	ENST00000370449	D	0.90069	-2.61	5.41	-3.68	0.04463	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.260242	0.44688	D	0.000427	D	0.83445	0.5256	L	0.33093	0.98	0.80722	D	1	P	0.38729	0.644	B	0.39152	0.292	T	0.78471	-0.2191	10	0.66056	D	0.02	-9.3788	20.0389	0.97573	0.0575:0.6481:0.2944:0.0	.	478	Q92887	MRP2_HUMAN	V	478	ENSP00000359478:A478V	ENSP00000359478:A478V	A	+	2	0	ABCC2	101553989	0.002000	0.14202	0.013000	0.15412	0.761000	0.43186	-0.042000	0.12063	-0.442000	0.07190	-1.286000	0.01371	GCG		0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
ABCC2	1244	broad.mit.edu	37	10	101569957	101569957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:101569957C>T	ENST00000370449.4	+	14	1995	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	628					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.R628*(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)	ATCTGCCATTCGACATGACTG	0.423																																					p.R628X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1882T	10						.						108.0	95.0	99.0					10																	101569957		2203	4300	6503	101559947	SO:0001587	stop_gained	1244	exon14			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.1882C>T	10.37:g.101569957C>T	ENSP00000359478:p.Arg628*		101559947	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Nonsense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	40	8.064953	0.98635	.	.	ENSG00000023839	ENST00000370449	.	.	.	5.79	4.86	0.63082	.	0.208574	0.41194	D	0.000939	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-3.547	11.2235	0.48869	0.0:0.8025:0.1284:0.0691	.	.	.	.	X	628	.	ENSP00000359478:R628X	R	+	1	2	ABCC2	101559947	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	1.679000	0.37597	2.728000	0.93425	0.650000	0.86243	CGA		0.423	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
ABCC2	1244	broad.mit.edu	37	10	101591453	101591453	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:101591453C>A	ENST00000370449.4	+	22	3082	c.2969C>A	c.(2968-2970)tCt>tAt	p.S990Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	990	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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.S990Y(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)	GTGATGAATTCTGTGGCTTTT	0.448																																					p.S990Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2969A	10						.						171.0	160.0	164.0					10																	101591453		2203	4300	6503	101581443	SO:0001583	missense	1244	exon22			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.2969C>A	10.37:g.101591453C>A	ENSP00000359478:p.Ser990Tyr		101581443	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	8.937	0.964791	0.18583	.	.	ENSG00000023839	ENST00000370449	D	0.89810	-2.57	5.64	1.58	0.23477	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.405965	0.28214	N	0.016162	T	0.78792	0.4339	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.64449	-0.6405	10	0.31617	T	0.26	-0.5046	6.9379	0.24476	0.4659:0.4004:0.0:0.1336	.	990	Q92887	MRP2_HUMAN	Y	990	ENSP00000359478:S990Y	ENSP00000359478:S990Y	S	+	2	0	ABCC2	101581443	0.168000	0.22989	0.475000	0.27278	0.941000	0.58515	1.029000	0.30140	0.032000	0.15435	0.591000	0.81541	TCT		0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
CWF19L1	55280	broad.mit.edu	37	10	102016154	102016154	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:102016154T>C	ENST00000354105.4	-	5	455	c.369A>G	c.(367-369)gtA>gtG	p.V123V	RNU6-422P_ENST00000384632.1_RNA|CWF19L1_ENST00000478047.1_5'Flank	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	123							catalytic activity (GO:0003824)	p.V123V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TATAACCTGGTACTGGCTCAT	0.448																																					p.V123V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A369G	10						.						152.0	142.0	145.0					10																	102016154		2203	4300	6503	102006144	SO:0001819	synonymous_variant	55280	exon5			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.369A>G	10.37:g.102016154T>C			102006144	NM_018294	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	37	CCDS7489.1																																																																																				0.448	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294	
PKD2L1	9033	broad.mit.edu	37	10	102051087	102051087	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:102051087T>G	ENST00000318222.3	-	12	2360	c.1978A>C	c.(1978-1980)Aaa>Caa	p.K660Q	PKD2L1_ENST00000338519.3_Missense_Mutation_p.K585Q|PKD2L1_ENST00000353274.3_Missense_Mutation_p.K660Q	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	660	EF-hand.				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.K660Q(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)		TGTCGCATTTTTTCCTGTTCC	0.522																																					p.K660Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1978C	10						.						240.0	192.0	208.0					10																	102051087		2203	4300	6503	102041077	SO:0001583	missense	9033	exon12			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.1978A>C	10.37:g.102051087T>G	ENSP00000325296:p.Lys660Gln		102041077	NM_016112	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.721539	0.00700	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.71461	-0.57;-0.57;-0.57	5.82	-3.51	0.04696	EF-hand-like domain (1);	0.589219	0.18846	N	0.129527	T	0.27419	0.0673	N	0.01219	-0.95	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.08055	0.003;0.001	T	0.43065	-0.9414	10	0.02654	T	1	0.0	4.6236	0.12467	0.0655:0.2599:0.2927:0.382	.	613;660	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	Q	585;660;660;658	ENSP00000345068:K585Q;ENSP00000266049:K660Q;ENSP00000325296:K660Q	ENSP00000325296:K660Q	K	-	1	0	PKD2L1	102041077	0.000000	0.05858	0.004000	0.12327	0.023000	0.10783	0.556000	0.23438	-0.414000	0.07495	-0.144000	0.13903	AAA		0.522	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
FBXW4	6468	broad.mit.edu	37	10	103371150	103371150	+	Silent	SNP	C	C	T	rs556578828		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:103371150C>T	ENST00000331272.7	-	9	1755	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	379					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)		p.S379S(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TGAGGGGAGTCGACGTCAGCG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20239	0.0		0.0	False		,,,				2504	0.001				p.S379S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1137A	10						.						72.0	65.0	67.0					10																	103371150		2203	4300	6503	103361140	SO:0001819	synonymous_variant	6468	exon9			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.1137G>A	10.37:g.103371150C>T			103361140	NM_022039	Q5SVS1|Q96IM6	Silent	SNP	ENST00000331272.7	37	CCDS31271.1																																																																																				0.587	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039	
C10orf76	79591	broad.mit.edu	37	10	103772632	103772632	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:103772632C>T	ENST00000370033.4	-	10	847	c.728G>A	c.(727-729)gGa>gAa	p.G243E		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	243						integral component of membrane (GO:0016021)		p.G243E(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)		AAGTCCCATTCCCTAGAAGGG	0.423																																					p.G243E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	10						.						58.0	54.0	55.0					10																	103772632		1882	4113	5995	103762622	SO:0001630	splice_region_variant	79591	exon10			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.727-1G>A	10.37:g.103772632C>T			103762622	NM_024541	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947932	0.92593	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.82955	-0.0200	9	0.56958	D	0.05	-11.5328	20.3465	0.98790	0.0:1.0:0.0:0.0	.	243	Q5T2E6	CJ076_HUMAN	E	243	.	ENSP00000359050:G243E	G	-	2	0	C10orf76	103762622	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.072000	0.71238	2.798000	0.96311	0.655000	0.94253	GGA		0.423	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	Missense_Mutation
GBF1	8729	broad.mit.edu	37	10	104127242	104127242	+	Missense_Mutation	SNP	G	G	A	rs377075024		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:104127242G>A	ENST00000369983.3	+	21	2824	c.2564G>A	c.(2563-2565)cGc>cAc	p.R855H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	855	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R855H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TAGGAGTTTCGCAAAAATCTG	0.443																																					p.R856H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2567A	10						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	116.0	106.0	109.0		2567,2564,2564	5.8	1.0	10		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GBF1	NM_001199378.1,NM_001199379.1,NM_004193.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	856/1857,855/1856,855/1860	104127242	1,13005	2203	4300	6503	104117232	SO:0001583	missense	8729	exon21			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2564G>A	10.37:g.104127242G>A	ENSP00000359000:p.Arg855His		104117232	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068027	0.93950	0.0	1.16E-4	ENSG00000107862	ENST00000369983	T	0.55234	0.53	5.79	5.79	0.91817	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.046835	0.85682	D	0.000000	T	0.66528	0.2798	L	0.52011	1.625	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.995	P;P;P	0.61070	0.883;0.75;0.781	T	0.63659	-0.6587	10	0.45353	T	0.12	-13.1873	20.0368	0.97565	0.0:0.0:1.0:0.0	.	855;855;855	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	855	ENSP00000359000:R855H	ENSP00000359000:R855H	R	+	2	0	GBF1	104117232	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.032000	0.70918	2.735000	0.93741	0.563000	0.77884	CGC		0.443	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
ACTR1A	10121	broad.mit.edu	37	10	104241841	104241841	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:104241841A>C	ENST00000369905.4	-	8	905	c.842T>G	c.(841-843)tTc>tGc	p.F281C	ACTR1A_ENST00000446605.2_Missense_Mutation_p.F234C|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000545684.1_Missense_Mutation_p.F207C|ACTR1A_ENST00000487599.1_Missense_Mutation_p.F281C|RP11-18I14.11_ENST00000608017.1_RNA	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	281					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)	p.F281C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CTGAATGGCGAACACCAGGAC	0.532																																					p.F281C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T842G	10						.						130.0	136.0	134.0					10																	104241841		2203	4300	6503	104231831	SO:0001583	missense	10121	exon8			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.842T>G	10.37:g.104241841A>C	ENSP00000358921:p.Phe281Cys		104231831	NM_005736	B2R6B0|P42024	Missense_Mutation	SNP	ENST00000369905.4	37	CCDS7536.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155861	0.78114	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.94330	-3.4;-3.4;-3.4	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	L	0.43152	1.355	0.80722	D	1	P	0.40000	0.698	P	0.54856	0.762	D	0.94970	0.8116	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	281	P61163	ACTZ_HUMAN	C	281;207;234	ENSP00000358921:F281C;ENSP00000438890:F207C;ENSP00000406028:F234C	ENSP00000358921:F281C	F	-	2	0	ACTR1A	104231831	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.714000	0.68422	2.271000	0.75665	0.459000	0.35465	TTC		0.532	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1		
TRIM8	81603	broad.mit.edu	37	10	104416556	104416556	+	Silent	SNP	C	C	T	rs41300235	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:104416556C>T	ENST00000302424.7	+	6	1223	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	367					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 ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.C367C(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTACCCTTGCGGCGTGAGCA	0.647																																					p.C367C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1101T	10						.	C		0,4406		0,0,2203	95.0	99.0	98.0		1101	-8.2	0.9	10	dbSNP_127	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM8	NM_030912.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		367/552	104416556	1,13005	2203	4300	6503	104406546	SO:0001819	synonymous_variant	81603	exon6			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1101C>T	10.37:g.104416556C>T			104406546	NM_030912	A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	CCDS31274.1																																																																																				0.647	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912	
CFAP58	159686	broad.mit.edu	37	10	106160518	106160518	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:106160518G>A	ENST00000369704.3	+	13	2030	c.1896G>A	c.(1894-1896)aaG>aaA	p.K632K	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		632						extracellular space (GO:0005615)		p.K632K(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)		AGAAGATCAAGATCCAACAGT	0.498																																					p.K632K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1896A	10						.						140.0	127.0	132.0					10																	106160518		2203	4300	6503	106150508	SO:0001819	synonymous_variant	159686	exon13																														ENST00000369704.3:c.1896G>A	10.37:g.106160518G>A			106150508	NM_001008723	D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	CCDS31282.1																																																																																				0.498	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
IDI1	3422	broad.mit.edu	37	10	1089330	1089330	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:1089330A>C	ENST00000381344.3	-	3	483	c.317T>G	c.(316-318)tTa>tGa	p.L106*	IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|RNU7-163P_ENST00000459467.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	49	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)	p.L106*(1)		large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TCGATGCAATAATCCTGAAAG	0.358																																					p.L106X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T317G	10						.						73.0	75.0	74.0					10																	1089330		2203	4300	6503	1079330	SO:0001587	stop_gained	3422	exon3			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.317T>G	10.37:g.1089330A>C	ENSP00000370748:p.Leu106*		1079330	NM_004508	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Nonsense_Mutation	SNP	ENST00000381344.3	37	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527654	0.85706	.	.	ENSG00000067064	ENST00000381344;ENST00000427898;ENST00000429642	.	.	.	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2722	13.8741	0.63643	1.0:0.0:0.0:0.0	.	.	.	.	X	106;20;49	.	ENSP00000370748:L106X	L	-	2	0	IDI1	1079330	1.000000	0.71417	0.894000	0.35097	0.849000	0.48306	8.009000	0.88606	1.806000	0.52798	0.482000	0.46254	TTA		0.358	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508	
SORCS3	22986	broad.mit.edu	37	10	106982921	106982921	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:106982921A>C	ENST00000369701.3	+	20	3009	c.2782A>C	c.(2782-2784)Aat>Cat	p.N928H	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	928					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.N928H(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)		TGCCATAAGAAATAAGGAGGT	0.448																																					p.N928H	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2782C	10						.						170.0	162.0	165.0					10																	106982921		2203	4300	6503	106972911	SO:0001583	missense	22986	exon20			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.2782A>C	10.37:g.106982921A>C	ENSP00000358715:p.Asn928His		106972911	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010909	0.75046	.	.	ENSG00000156395	ENST00000369701	T	0.16897	2.31	5.06	3.92	0.45320	PKD domain (1);	0.418267	0.27105	N	0.020901	T	0.37999	0.1024	M	0.80422	2.495	0.53005	D	0.999966	D	0.63880	0.993	D	0.63033	0.91	T	0.20571	-1.0271	9	.	.	.	.	10.4243	0.44369	0.9225:0.0:0.0775:0.0	.	928	Q9UPU3	SORC3_HUMAN	H	928	ENSP00000358715:N928H	.	N	+	1	0	SORCS3	106972911	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.612000	0.61169	2.035000	0.60131	0.460000	0.39030	AAT		0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
TCF7L2	6934	broad.mit.edu	37	10	114911560	114911560	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:114911560T>C	ENST00000355995.4	+	10	1585	c.1078T>C	c.(1078-1080)Tat>Cat	p.Y360H	TCF7L2_ENST00000536810.1_Missense_Mutation_p.Y360H|TCF7L2_ENST00000542695.1_Missense_Mutation_p.Y76H|TCF7L2_ENST00000543371.1_Missense_Mutation_p.Y360H|TCF7L2_ENST00000369397.4_Missense_Mutation_p.Y337H|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000534894.1_Missense_Mutation_p.Y360H|TCF7L2_ENST00000369386.1_Missense_Mutation_p.Y3H|TCF7L2_ENST00000352065.5_Missense_Mutation_p.Y337H|TCF7L2_ENST00000538897.1_Missense_Mutation_p.Y360H|TCF7L2_ENST00000545257.1_Missense_Mutation_p.Y360H|TCF7L2_ENST00000369389.1_Missense_Mutation_p.Y71H|TCF7L2_ENST00000355717.4_Missense_Mutation_p.Y384H			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	360	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y360H(1)|p.Y337H(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATTCATGTTGTATATGAAGGA	0.463			T	VTI1A	colorectal																																p.Y333H			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T997C	10						.						72.0	72.0	72.0					10																	114911560		2203	4300	6503	114901550	SO:0001583	missense	6934	exon9			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1078T>C	10.37:g.114911560T>C	ENSP00000348274:p.Tyr360His		114901550	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	t	25.8	4.674115	0.88445	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945;ENST00000369386	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.24	5.24	0.73138	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.059616	0.64402	D	0.000002	D	0.99272	0.9746	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.996;0.999;0.998;0.999;0.999;0.999;0.999;1.0;1.0;0.999;0.999;1.0;1.0;0.998;0.999;0.999;0.999;1.0	D	0.99050	1.0827	10	0.87932	D	0	-27.4777	15.1346	0.72552	0.0:0.0:0.0:1.0	.	217;177;259;360;231;275;333;337;337;303;360;337;337;342;384;337;360;333;337	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	360;360;360;360;384;360;360;337;337;76;71;77;3	ENSP00000348274:Y360H;ENSP00000440547:Y360H;ENSP00000444972:Y360H;ENSP00000446238:Y360H;ENSP00000347949:Y384H;ENSP00000446172:Y360H;ENSP00000443626:Y360H;ENSP00000358404:Y337H;ENSP00000344823:Y337H;ENSP00000443883:Y76H;ENSP00000358396:Y71H;ENSP00000277945:Y77H;ENSP00000358393:Y3H	ENSP00000277945:Y77H	Y	+	1	0	TCF7L2	114901550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.982000	0.57802	0.533000	0.62120	TAT		0.463	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
NRAP	4892	broad.mit.edu	37	10	115385834	115385834	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:115385834G>C	ENST00000359988.3	-	21	2460	c.2216C>G	c.(2215-2217)gCc>gGc	p.A739G	NRAP_ENST00000369360.3_Missense_Mutation_p.A712G|NRAP_ENST00000360478.3_Missense_Mutation_p.A704G|NRAP_ENST00000369358.4_Missense_Mutation_p.A747G	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.A739G(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)		GCTCTTCTTGGCGTGCTCCAT	0.597																																					p.A739G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2216G	10						.						103.0	75.0	85.0					10																	115385834		2203	4300	6503	115375824	SO:0001583	missense	4892	exon21				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.2216C>G	10.37:g.115385834G>C	ENSP00000353078:p.Ala739Gly		115375824	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387127	0.95988	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	M	0.89715	3.055	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	0.999;0.999;0.999;0.999	D	0.87790	0.2618	10	0.87932	D	0	.	20.0728	0.97731	0.0:0.0:1.0:0.0	.	419;739;704;739	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	G	747;712;739;704;419	ENSP00000358365:A747G;ENSP00000358367:A712G;ENSP00000353078:A739G;ENSP00000353666:A704G	ENSP00000353078:A739G	A	-	2	0	NRAP	115375824	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.398000	0.90195	2.840000	0.97914	0.655000	0.94253	GCC		0.597	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
USP6NL	9712	broad.mit.edu	37	10	11505575	11505575	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:11505575C>A	ENST00000609104.1	-	15	1746	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	USP6NL_ENST00000379237.2_Missense_Mutation_p.R474I|USP6NL_ENST00000277575.5_Missense_Mutation_p.R468I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	451					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGGGAGTTTTCTTTGAAAATC	0.517																																					p.R451I												.	.	0			c.G1352T	10						.						122.0	120.0	120.0					10																	11505575		1924	4127	6051	11545581	SO:0001583	missense	9712	exon15			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1352G>T	10.37:g.11505575C>A	ENSP00000476462:p.Arg451Ile		11545581	NM_014688	A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985744	0.53934	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.05258	3.47;3.48	5.74	3.88	0.44766	.	0.109244	0.64402	D	0.000010	T	0.08582	0.0213	M	0.62723	1.935	0.52501	D	0.999958	P;B	0.38642	0.641;0.279	B;B	0.35413	0.202;0.086	T	0.06144	-1.0843	10	0.72032	D	0.01	.	10.9741	0.47456	0.0:0.7469:0.0:0.2531	.	451;468	Q92738;Q92738-2	US6NL_HUMAN;.	I	451;468;451	ENSP00000277575:R468I;ENSP00000368539:R451I	ENSP00000277575:R468I	R	-	2	0	USP6NL	11545581	0.988000	0.35896	0.018000	0.16275	0.259000	0.26198	0.502000	0.22594	0.881000	0.35993	0.561000	0.74099	AGA		0.517	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688	
NRAP	4892	broad.mit.edu	37	10	115406696	115406696	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:115406696C>T	ENST00000359988.3	-	10	1223	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NRAP_ENST00000369360.3_Missense_Mutation_p.E327K|NRAP_ENST00000360478.3_Missense_Mutation_p.E327K|NRAP_ENST00000369358.4_Missense_Mutation_p.E327K	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.E327K												.	.	4	Substitution - Missense(3)|Substitution - Nonsense(1)	large_intestine(4)	c.G979A	10						.						249.0	194.0	213.0					10																	115406696		2203	4300	6503	115396686	SO:0001583	missense	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>A	10.37:g.115406696C>T	ENSP00000353078:p.Glu327Lys		115396686	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413299	0.62511	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.71	3.87	0.44632	.	0.142736	0.64402	D	0.000006	T	0.49779	0.1577	M	0.77313	2.365	0.37841	D	0.929041	P;P;P	0.49862	0.902;0.929;0.812	P;P;B	0.48795	0.544;0.59;0.311	T	0.54925	-0.8220	10	0.19590	T	0.45	.	12.5859	0.56416	0.0:0.8654:0.0:0.1346	.	327;327;327	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	K	327;327;327;327;56;56	ENSP00000358365:E327K;ENSP00000358367:E327K;ENSP00000353078:E327K;ENSP00000353666:E327K	ENSP00000353078:E327K	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	
NHLRC2	374354	broad.mit.edu	37	10	115663313	115663313	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:115663313A>C	ENST00000369301.3	+	9	1734	c.1522A>C	c.(1522-1524)Aac>Cac	p.N508H		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	508								p.N508H(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AAAAACAAAAAACTGTACAAC	0.328																																					p.N508H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1522C	10						.						105.0	112.0	110.0					10																	115663313		2203	4296	6499	115653303	SO:0001583	missense	374354	exon9			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1522A>C	10.37:g.115663313A>C	ENSP00000358307:p.Asn508His		115653303	NM_198514	Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	8.436	0.849756	0.17034	.	.	ENSG00000196865	ENST00000369301	D	0.90261	-2.64	5.65	0.42	0.16444	Six-bladed beta-propeller, TolB-like (1);	0.837717	0.11293	N	0.579069	D	0.83589	0.5287	L	0.33245	0.995	0.25939	N	0.982895	B	0.31859	0.343	B	0.31812	0.136	T	0.71543	-0.4561	10	0.44086	T	0.13	-0.2203	7.8082	0.29215	0.5184:0.4102:0.0715:0.0	.	508	Q8NBF2	NHLC2_HUMAN	H	508	ENSP00000358307:N508H	ENSP00000358307:N508H	N	+	1	0	NHLRC2	115653303	0.781000	0.28676	0.827000	0.32855	0.984000	0.73092	1.022000	0.30052	-0.100000	0.12241	-0.291000	0.09656	AAC		0.328	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514	
ADRB1	153	broad.mit.edu	37	10	115804403	115804403	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:115804403C>T	ENST00000369295.2	+	1	598	c.512C>T	c.(511-513)aCg>aTg	p.T171M		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	171					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)	p.T171M(1)		large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	AGCCTGCTGAcgcgcgcgcgg	0.692																																					p.T171M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512T	10						.						47.0	52.0	50.0					10																	115804403		2203	4300	6503	115794393	SO:0001583	missense	153	exon1			J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.512C>T	10.37:g.115804403C>T	ENSP00000358301:p.Thr171Met		115794393	NM_000684	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614332	0.66672	.	.	ENSG00000043591	ENST00000369295	T	0.45668	0.89	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.80248	0.4588	H	0.99379	4.54	0.50813	D	0.99989	D	0.89917	1.0	D	0.75484	0.986	D	0.90070	0.4162	10	0.87932	D	0	.	17.0888	0.86617	0.0:1.0:0.0:0.0	.	171	P08588	ADRB1_HUMAN	M	171	ENSP00000358301:T171M	ENSP00000358301:T171M	T	+	2	0	ADRB1	115794393	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	5.723000	0.68492	2.020000	0.59435	0.549000	0.68633	ACG		0.692	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1		
CCDC186	55088	broad.mit.edu	37	10	115895707	115895707	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:115895707T>G	ENST00000369287.3	-	9	1721	c.1455A>C	c.(1453-1455)gaA>gaC	p.E485D	C10orf118_ENST00000543782.1_Missense_Mutation_p.E83D	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		485								p.E485D(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTTCAGATCTTCTAGTTCCT	0.323																																					p.E485D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1455C	10						.						172.0	157.0	162.0					10																	115895707		2203	4300	6503	115885697	SO:0001583	missense	55088	exon9																														ENST00000369287.3:c.1455A>C	10.37:g.115895707T>G	ENSP00000358293:p.Glu485Asp		115885697	NM_018017	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543286	0.45280	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T;T	0.53640	0.61;0.61	5.5	3.17	0.36434	.	0.050969	0.85682	D	0.000000	T	0.36991	0.0987	L	0.57536	1.79	0.45194	D	0.998205	B;B	0.32693	0.106;0.38	B;B	0.30316	0.045;0.114	T	0.10359	-1.0633	10	0.31617	T	0.26	.	4.9154	0.13844	0.1361:0.1464:0.0:0.7175	.	83;485	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	D	485;83;591	ENSP00000358293:E485D;ENSP00000441576:E83D	ENSP00000358293:E485D	E	-	3	2	C10orf118	115885697	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.142000	0.16096	0.393000	0.25203	0.449000	0.29647	GAA		0.323	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1		
TDRD1	56165	broad.mit.edu	37	10	115947789	115947789	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:115947789T>G	ENST00000369280.1	+	2	659	c.199T>G	c.(199-201)Ttt>Gtt	p.F67V	TDRD1_ENST00000369282.1_Missense_Mutation_p.F67V|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369281.2_Missense_Mutation_p.F67V|TDRD1_ENST00000251864.2_Missense_Mutation_p.F67V			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	67					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.F67V(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)		AAAGAACAATTTTTTGCTTTG	0.403																																					p.F67V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T199G	10						.						97.0	104.0	102.0					10																	115947789		2203	4300	6503	115937779	SO:0001583	missense	56165	exon2			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.199T>G	10.37:g.115947789T>G	ENSP00000358286:p.Phe67Val		115937779	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	T	19.65	3.867162	0.72065	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.44	5.44	0.79542	.	0.228496	0.31495	N	0.007558	T	0.52386	0.1731	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.83275	0.991;0.991;0.996;0.937	T	0.55780	-0.8087	10	0.87932	D	0	-23.0922	11.8846	0.52594	0.0:0.0:0.0:1.0	.	67;67;67;67	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	V	67	ENSP00000358288:F67V;ENSP00000251864:F67V;ENSP00000358287:F67V;ENSP00000358286:F67V	ENSP00000251864:F67V	F	+	1	0	TDRD1	115937779	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.398000	0.44486	2.070000	0.61991	0.460000	0.39030	TTT		0.403	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
VWA2	340706	broad.mit.edu	37	10	116037797	116037797	+	Missense_Mutation	SNP	G	G	A	rs200329465		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:116037797G>A	ENST00000392982.3	+	7	941	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	VWA2_ENST00000603594.1_Missense_Mutation_p.A231T			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	231					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.A231T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTGCTCCAGCGCCACGCCAGG	0.652													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18729	0.0		0.0	False		,,,				2504	0.0				p.A231T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	10						.						46.0	40.0	42.0					10																	116037797		2203	4300	6503	116027787	SO:0001583	missense	340706	exon7			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.691G>A	10.37:g.116037797G>A	ENSP00000376708:p.Ala231Thr		116027787	NM_198496	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	g	7.441	0.640766	0.14386	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.68331	-0.32	5.6	-5.05	0.02955	.	0.729810	0.13657	N	0.371861	T	0.40979	0.1139	N	0.26130	0.795	0.09310	N	1	B;B	0.14438	0.001;0.01	B;B	0.10450	0.002;0.005	T	0.24119	-1.0169	10	0.17832	T	0.49	.	4.0799	0.09921	0.2777:0.2569:0.3849:0.0805	.	231;231	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	T	231	ENSP00000376708:A231T	ENSP00000298715:A231T	A	+	1	0	VWA2	116027787	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.921000	0.28718	-1.224000	0.02581	-2.299000	0.00261	GCC		0.652	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496	
FAM160B1	57700	broad.mit.edu	37	10	116590638	116590638	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:116590638G>T	ENST00000369248.4	+	2	408	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	FAM160B1_ENST00000369250.3_Missense_Mutation_p.D25Y|FAM160B1_ENST00000369246.1_Missense_Mutation_p.D25Y	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	25								p.D25Y(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTTACAAGAAGATTTTGTTTA	0.323																																					p.D25Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G73T	10						.						153.0	142.0	145.0					10																	116590638		2203	4298	6501	116580628	SO:0001583	missense	57700	exon2			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.73G>T	10.37:g.116590638G>T	ENSP00000358251:p.Asp25Tyr		116580628	NM_020940	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666713	0.88251	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	T;T	0.16324	2.37;2.35	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.74023	0.982;0.979	T	0.30736	-0.9968	10	0.87932	D	0	-21.3065	17.639	0.88130	0.0:0.0:1.0:0.0	.	25;25	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	Y	25	ENSP00000358251:D25Y;ENSP00000358253:D25Y	ENSP00000358249:D25Y	D	+	1	0	FAM160B1	116580628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.673000	0.98631	2.159000	0.67721	0.462000	0.41574	GAT		0.323	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351	
ATRNL1	26033	broad.mit.edu	37	10	117061476	117061476	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:117061476G>A	ENST00000355044.3	+	17	2867	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R11Q|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	914	PSI 4.				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.R914Q(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)		AGTACGAAACGATGTGTTGAC	0.453																																					p.R914Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2741A	10						.						294.0	217.0	243.0					10																	117061476		2203	4300	6503	117051466	SO:0001583	missense	26033	exon17			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.2741G>A	10.37:g.117061476G>A	ENSP00000347152:p.Arg914Gln		117051466	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479389	0.63849	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.22945	2.13;1.93	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.978;0.994	T	0.06285	-1.0835	10	0.20519	T	0.43	-5.4211	19.7031	0.96063	0.0:0.0:1.0:0.0	.	11;914	B4DH41;Q5VV63	.;ATRN1_HUMAN	Q	914;11	ENSP00000347152:R914Q;ENSP00000409624:R11Q	ENSP00000347152:R914Q	R	+	2	0	ATRNL1	117051466	1.000000	0.71417	0.142000	0.22268	0.879000	0.50718	7.894000	0.87336	2.664000	0.90586	0.591000	0.81541	CGA		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
PNLIPRP1	5407	broad.mit.edu	37	10	118359613	118359613	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:118359613A>G	ENST00000528052.1	+	9	940	c.869A>G	c.(868-870)gAa>gGa	p.E290G	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.E290G|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.E290G			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	290					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.E290G(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TATTACTTGGAAAGCATCCTC	0.488																																					p.E290G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A869G	10						.						184.0	167.0	173.0					10																	118359613		2203	4300	6503	118349603	SO:0001583	missense	5407	exon9			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.869A>G	10.37:g.118359613A>G	ENSP00000433933:p.Glu290Gly		118349603	NM_006229	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.406035	0.62288	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.93366	-3.21;-3.21;-3.21	5.22	5.22	0.72569	Lipase, N-terminal (1);	0.639193	0.16374	N	0.217203	D	0.97417	0.9155	H	0.95470	3.675	0.80722	D	1	P	0.43231	0.801	P	0.57846	0.828	D	0.98023	1.0372	10	0.62326	D	0.03	-6.7599	14.3677	0.66817	1.0:0.0:0.0:0.0	.	290	P54315	LIPR1_HUMAN	G	290	ENSP00000351695:E290G;ENSP00000433933:E290G;ENSP00000434159:E290G	ENSP00000351695:E290G	E	+	2	0	PNLIPRP1	118349603	1.000000	0.71417	0.643000	0.29450	0.637000	0.38172	4.351000	0.59398	2.095000	0.63458	0.533000	0.62120	GAA		0.488	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229	
KIAA1598	57698	broad.mit.edu	37	10	118711512	118711512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:118711512G>A	ENST00000355371.4	-	6	939	c.442C>T	c.(442-444)Cga>Tga	p.R148*	KIAA1598_ENST00000392901.4_Nonsense_Mutation_p.R88*|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.R148*|KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.R148*	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	148					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)		p.R148*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		ATTTGATCTCGAAGTTCTGCa	0.294																																					p.R148X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C442T	10						.						53.0	48.0	50.0					10																	118711512		2202	4300	6502	118701502	SO:0001587	stop_gained	57698	exon6			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.442C>T	10.37:g.118711512G>A	ENSP00000347532:p.Arg148*		118701502	NM_018330	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Nonsense_Mutation	SNP	ENST00000355371.4	37	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	G	39	7.327282	0.98214	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	.	.	.	5.69	5.69	0.88448	.	0.128531	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-4.2585	17.9862	0.89156	0.0:0.0:1.0:0.0	.	.	.	.	X	148;148;148;88	.	ENSP00000260777:R148X	R	-	1	2	KIAA1598	118701502	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.932000	0.56537	2.682000	0.91365	0.655000	0.94253	CGA		0.294	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330	
UPF2	26019	broad.mit.edu	37	10	11994152	11994152	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:11994152G>A	ENST00000356352.2	-	14	3420	c.2947C>T	c.(2947-2949)Cta>Tta	p.L983L	UPF2_ENST00000357604.5_Silent_p.L983L|UPF2_ENST00000397053.2_Silent_p.L983L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	983	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				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.L983L(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)				TTTGGTCTTAGCAGTTCTAGT	0.368																																					p.L983L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2947T	10						.						183.0	178.0	179.0					10																	11994152		2202	4300	6502	12034158	SO:0001819	synonymous_variant	26019	exon15			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.2947C>T	10.37:g.11994152G>A			12034158	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	CCDS7086.1																																																																																				0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
KCNK18	338567	broad.mit.edu	37	10	118969746	118969746	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:118969746A>G	ENST00000334549.1	+	3	1091	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	364					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.D364G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AGGCTGATTGACATATACAAA	0.373																																					p.D364G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1091G	10						.						166.0	156.0	160.0					10																	118969746		2203	4300	6503	118959736	SO:0001583	missense	338567	exon3			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.1091A>G	10.37:g.118969746A>G	ENSP00000334650:p.Asp364Gly		118959736	NM_181840	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	A	5.997	0.367956	0.11352	.	.	ENSG00000186795	ENST00000334549	T	0.15487	2.42	5.4	1.54	0.23209	.	1.184760	0.05797	N	0.611451	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.38436	-0.9661	10	0.19147	T	0.46	.	1.8856	0.03237	0.3669:0.141:0.3558:0.1364	.	364	Q7Z418	KCNKI_HUMAN	G	364	ENSP00000334650:D364G	ENSP00000334650:D364G	D	+	2	0	KCNK18	118959736	0.000000	0.05858	0.000000	0.03702	0.636000	0.38137	-0.012000	0.12699	0.071000	0.16664	-0.313000	0.08912	GAC		0.373	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
EIF3A	8661	broad.mit.edu	37	10	120817733	120817733	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:120817733C>T	ENST00000369144.3	-	12	1839	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.R537H	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.R571H(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)		TGTCTGGCGGCGAGCCAGGAT	0.448																																					p.R571H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1712A	10						.						36.0	33.0	34.0					10																	120817733		2203	4300	6503	120807723	SO:0001583	missense	8661	exon12			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.1712G>A	10.37:g.120817733C>T	ENSP00000358140:p.Arg571His		120807723	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526072	0.85600	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.57273	0.41;0.41	5.5	5.5	0.81552	.	0.000000	0.38381	U	0.001703	T	0.77831	0.4189	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.81132	-0.1072	10	0.87932	D	0	-7.2068	19.775	0.96388	0.0:1.0:0.0:0.0	.	571	Q14152	EIF3A_HUMAN	H	571;537	ENSP00000358140:R571H;ENSP00000438178:R537H	ENSP00000358140:R571H	R	-	2	0	EIF3A	120807723	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.741000	0.84997	2.741000	0.93983	0.585000	0.79938	CGC		0.448	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
RGS10	6001	broad.mit.edu	37	10	121259675	121259675	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:121259675G>A	ENST00000369101.3	-	4	499	c.472C>T	c.(472-474)Cct>Tct	p.P158S	RGS10_ENST00000369103.2_Missense_Mutation_p.P166S|RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000392865.1_Missense_Mutation_p.P152S			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	158					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.P166S(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TGAGCATCAGGCAAATCTTCT	0.423																																					p.P166S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	10						.						126.0	124.0	124.0					10																	121259675		2203	4300	6503	121249665	SO:0001583	missense	6001	exon5			AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.472C>T	10.37:g.121259675G>A	ENSP00000358097:p.Pro158Ser		121249665	NM_001005339	A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37		.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232693	0.05983	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.42900	0.98;0.96;0.98	5.91	1.59	0.23543	.	0.162693	0.43260	D	0.000584	T	0.21674	0.0522	N	0.13003	0.285	0.20196	N	0.999923	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12889	-1.0530	10	0.44086	T	0.13	-28.7303	6.2749	0.20975	0.3008:0.0:0.5675:0.1317	.	166;152;158	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	S	152;166;158	ENSP00000376605:P152S;ENSP00000358099:P166S;ENSP00000358097:P158S	ENSP00000358097:P158S	P	-	1	0	RGS10	121249665	0.045000	0.20229	0.301000	0.25044	0.020000	0.10135	0.226000	0.17776	0.844000	0.35094	-0.137000	0.14449	CCT		0.423	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925	
DHTKD1	55526	broad.mit.edu	37	10	12136141	12136141	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:12136141G>A	ENST00000263035.4	+	7	1291	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	410					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.R410Q(2)		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)			CGTGCCACACGACTGGCTTTT	0.527																																					p.R410Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1229A	10						.						179.0	144.0	155.0					10																	12136141		2203	4300	6503	12176147	SO:0001583	missense	55526	exon7			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.1229G>A	10.37:g.12136141G>A	ENSP00000263035:p.Arg410Gln		12176147	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359676	0.41801	.	.	ENSG00000181192	ENST00000263035;ENST00000415935	D;D	0.95885	-3.84;-3.84	4.59	1.22	0.21188	Dehydrogenase, E1 component (1);	0.190701	0.47455	N	0.000236	D	0.90854	0.7127	L	0.31120	0.905	0.58432	D	0.999998	B	0.18741	0.03	B	0.29942	0.109	T	0.82212	-0.0569	10	0.42905	T	0.14	-2.108	9.2773	0.37707	0.2649:0.0:0.7351:0.0	.	410	Q96HY7	DHTK1_HUMAN	Q	410;108	ENSP00000263035:R410Q;ENSP00000400625:R108Q	ENSP00000263035:R410Q	R	+	2	0	DHTKD1	12176147	1.000000	0.71417	0.255000	0.24374	0.969000	0.65631	4.244000	0.58728	-0.054000	0.13266	0.491000	0.48974	CGA		0.527	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
MCMBP	79892	broad.mit.edu	37	10	121607164	121607164	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:121607164G>A	ENST00000360003.3	-	8	957	c.788C>T	c.(787-789)tCt>tTt	p.S263F	MCMBP_ENST00000369077.3_Missense_Mutation_p.S263F|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	263					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.S263F(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGGATCCACAGACAGTATGCC	0.348																																					p.S263F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C788T	10						.						154.0	136.0	142.0					10																	121607164		2203	4300	6503	121597154	SO:0001583	missense	79892	exon8			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.788C>T	10.37:g.121607164G>A	ENSP00000353098:p.Ser263Phe		121597154	NM_024834	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734310	0.89482	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	T;T	0.63417	-0.04;-0.04	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80939	-0.1158	10	0.72032	D	0.01	-15.0657	18.2426	0.89973	0.0:0.0:1.0:0.0	.	263;263	Q9BTE3-2;Q9BTE3	.;MCMBP_HUMAN	F	263	ENSP00000353098:S263F;ENSP00000358073:S263F	ENSP00000353098:S263F	S	-	2	0	MCMBP	121597154	1.000000	0.71417	0.939000	0.37840	0.990000	0.78478	8.115000	0.89572	2.816000	0.96949	0.561000	0.74099	TCT		0.348	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
HTRA1	5654	broad.mit.edu	37	10	124268174	124268174	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:124268174C>T	ENST00000368984.3	+	6	1136	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	336	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D336D(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CTTTTCAGGACGGTGAAGTGA	0.448																																					p.D336D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008T	10						.						136.0	136.0	136.0					10																	124268174		2203	4300	6503	124258164	SO:0001819	synonymous_variant	5654	exon6			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1008C>T	10.37:g.124268174C>T			124258164	NM_002775	D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	CCDS7630.1																																																																																				0.448	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775	
DMBT1	1755	broad.mit.edu	37	10	124339144	124339144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:124339144C>T	ENST00000338354.3	+	10	836	c.730C>T	c.(730-732)Cga>Tga	p.R244*	DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R244*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R244*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R244*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R244*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R244*|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	244	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.R244*(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)				CGACAGGTGTCGAGGCCGAGT	0.567																																					p.R244X	Ovarian(182;93 2026 18125 22222 38972)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C730T	10						.						331.0	318.0	322.0					10																	124339144		2003	4179	6182	124329134	SO:0001587	stop_gained	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.730C>T	10.37:g.124339144C>T	ENSP00000342210:p.Arg244*		124329134	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	C	18.91	3.723508	0.68959	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	.	.	.	3.8	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.27510	N	0.951713	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.9255	0.58258	0.0:0.4706:0.5294:0.0	.	.	.	.	X	244	.	ENSP00000331522:R244X	R	+	1	2	DMBT1	124329134	0.000000	0.05858	0.015000	0.15790	0.106000	0.19336	0.293000	0.19029	0.701000	0.31803	0.405000	0.27470	CGA		0.567	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
C10orf88	80007	broad.mit.edu	37	10	124692108	124692108	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:124692108C>A	ENST00000481909.1	-	6	1397	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	391								p.K391N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCATAAGTTTCTTTTCCATCA	0.323																																					p.K391N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1173T	10						.						92.0	91.0	91.0					10																	124692108		2203	4300	6503	124682098	SO:0001583	missense	80007	exon6			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1173G>T	10.37:g.124692108C>A	ENSP00000419126:p.Lys391Asn		124682098	NM_024942	Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590720	0.66219	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.99	4.99	0.66335	.	0.150122	0.43260	U	0.000591	T	0.71660	0.3366	M	0.76574	2.34	0.39751	D	0.971893	D	0.63046	0.992	D	0.64410	0.925	T	0.76141	-0.3068	9	0.72032	D	0.01	.	10.4412	0.44466	0.0:0.9009:0.0:0.0991	.	391	Q9H8K7	CJ088_HUMAN	N	391	.	ENSP00000419126:K391N	K	-	3	2	C10orf88	124682098	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	1.136000	0.31467	2.294000	0.77228	0.655000	0.94253	AAG		0.323	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942	
ACADSB	36	broad.mit.edu	37	10	124810622	124810622	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:124810622A>G	ENST00000358776.4	+	9	1062	c.1048A>G	c.(1048-1050)Aca>Gca	p.T350A	ACADSB_ENST00000368869.4_Missense_Mutation_p.T248A	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	350					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.T350A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	AAGATTACTAACATACAATGC	0.408																																					p.T350A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1048G	10						.						41.0	41.0	41.0					10																	124810622		2203	4300	6503	124800612	SO:0001583	missense	36	exon9			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1048A>G	10.37:g.124810622A>G	ENSP00000357873:p.Thr350Ala		124800612	NM_001609	B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	a	14.75	2.628014	0.46944	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.95588	-3.75;-3.75	5.16	4.04	0.47022	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.101972	0.64402	D	0.000003	D	0.92593	0.7647	L	0.42245	1.32	0.58432	D	0.999992	P	0.35774	0.519	B	0.37780	0.258	D	0.90747	0.4654	10	0.72032	D	0.01	.	10.6777	0.45796	0.925:0.0:0.075:0.0	.	350	P45954	ACDSB_HUMAN	A	248;350	ENSP00000357862:T248A;ENSP00000357873:T350A	ENSP00000357873:T350A	T	+	1	0	ACADSB	124800612	1.000000	0.71417	0.007000	0.13788	0.512000	0.34134	9.261000	0.95576	0.821000	0.34540	0.524000	0.50904	ACA		0.408	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	
ACADSB	36	broad.mit.edu	37	10	124812606	124812606	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:124812606C>T	ENST00000358776.4	+	10	1172	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	ACADSB_ENST00000368869.4_Silent_p.I284I	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	386					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.I386I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GTAAATGTATCGAGTGGATGG	0.368																																					p.I386I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1158T	10						.						119.0	109.0	112.0					10																	124812606		2203	4300	6503	124802596	SO:0001819	synonymous_variant	36	exon10			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1158C>T	10.37:g.124812606C>T			124802596	NM_001609	B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	37	CCDS7634.1																																																																																				0.368	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	
CPXM2	119587	broad.mit.edu	37	10	125651014	125651014	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:125651014G>A	ENST00000241305.3	-	1	316	c.162C>T	c.(160-162)ctC>ctT	p.L54L	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	54	Pro-rich.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L54L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGAAGGTCTCGAGCTCGGGCT	0.726																																					p.L54L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162T	10						.						7.0	9.0	9.0					10																	125651014		2038	3998	6036	125641004	SO:0001819	synonymous_variant	119587	exon1			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.162C>T	10.37:g.125651014G>A			125641004	NM_198148	B4E3Q2	Silent	SNP	ENST00000241305.3	37	CCDS7637.1																																																																																				0.726	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
CHST15	51363	broad.mit.edu	37	10	125804284	125804284	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:125804284C>T	ENST00000346248.5	-	3	1340	c.698G>A	c.(697-699)cGc>cAc	p.R233H	CHST15_ENST00000435907.1_Missense_Mutation_p.R233H|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.R233H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	233					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.R233H(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GAAGGCCTTGCGCAGGGCGTC	0.652																																					p.R233H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G698A	10						.						97.0	87.0	90.0					10																	125804284		2203	4300	6503	125794274	SO:0001583	missense	51363	exon3			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.698G>A	10.37:g.125804284C>T	ENSP00000333947:p.Arg233His		125794274	NM_015892	O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735511	0.89482	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	L	0.29908	0.895	0.44175	D	0.996988	D;D	0.89917	1.0;0.999	D;P	0.69824	0.966;0.899	T	0.69818	-0.5042	9	0.87932	D	0	-33.5917	17.9025	0.88909	0.0:1.0:0.0:0.0	.	233;233	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	233	.	ENSP00000333947:R233H	R	-	2	0	CHST15	125794274	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.651000	0.54431	2.648000	0.89879	0.655000	0.94253	CGC		0.652	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
CHST15	51363	broad.mit.edu	37	10	125805511	125805511	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:125805511C>T	ENST00000346248.5	-	2	860	c.218G>A	c.(217-219)cGc>cAc	p.R73H	CHST15_ENST00000435907.1_Missense_Mutation_p.R73H|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.R73H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.R73H(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CTTTTTGAAGCGCAAAAACCC	0.458																																					p.R73H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	10						.						85.0	76.0	79.0					10																	125805511		2203	4300	6503	125795501	SO:0001583	missense	51363	exon2			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.218G>A	10.37:g.125805511C>T	ENSP00000333947:p.Arg73His		125795501	NM_015892	O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786083	0.70337	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	5.67	0.87782	.	0.253960	0.41294	D	0.000904	T	0.46833	0.1413	N	0.14661	0.345	0.29403	N	0.861779	D;D	0.69078	0.997;0.996	P;P	0.59703	0.862;0.732	T	0.49021	-0.8982	9	0.59425	D	0.04	-28.6264	19.7704	0.96361	0.0:1.0:0.0:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	73	.	ENSP00000333947:R73H	R	-	2	0	CHST15	125795501	1.000000	0.71417	0.987000	0.45799	0.403000	0.30841	4.969000	0.63735	2.676000	0.91093	0.561000	0.74099	CGC		0.458	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
EDRF1	26098	broad.mit.edu	37	10	127417948	127417948	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:127417948C>T	ENST00000356792.4	+	8	1148	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	C10orf137_ENST00000337623.3_Missense_Mutation_p.R272W	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R272W(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)				TGATTTTGTTCGGAATATTCT	0.383																																					p.R272W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C814T	10						.						73.0	70.0	71.0					10																	127417948		2203	4300	6503	127407938	SO:0001583	missense	26098	exon7																														ENST00000356792.4:c.916C>T	10.37:g.127417948C>T	ENSP00000349244:p.Arg306Trp		127407938	NM_015608	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097903	0.76870	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.0	5.0	0.66597	.	0.118515	0.56097	D	0.000022	T	0.77123	0.4084	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.995	T	0.79344	-0.1842	9	0.87932	D	0	.	13.4606	0.61225	0.1563:0.8437:0.0:0.0	.	306;272;306	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	W	306;306;272	.	ENSP00000336727:R272W	R	+	1	2	C10orf137	127407938	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.333000	0.59285	2.590000	0.87494	0.655000	0.94253	CGG		0.383	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
MMP21	118856	broad.mit.edu	37	10	127458926	127458926	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:127458926C>A	ENST00000368808.3	-	5	1213	c.1214G>T	c.(1213-1215)aGa>aTa	p.R405I		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	405					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R405I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	ACGTTCATCTCTTTTCCATGT	0.433																																					p.R405I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214T	10						.						196.0	190.0	192.0					10																	127458926		2203	4300	6503	127448916	SO:0001583	missense	118856	exon5			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1214G>T	10.37:g.127458926C>A	ENSP00000357798:p.Arg405Ile		127448916	NM_147191	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669704	0.29693	.	.	ENSG00000154485	ENST00000368808	T	0.08634	3.07	5.62	4.71	0.59529	Hemopexin/matrixin (2);	0.168732	0.51477	D	0.000090	T	0.12220	0.0297	M	0.64567	1.98	0.45594	D	0.998533	B	0.31351	0.32	B	0.33392	0.163	T	0.02339	-1.1174	10	0.49607	T	0.09	-29.3606	12.7645	0.57385	0.0:0.9187:0.0:0.0813	.	405	Q8N119	MMP21_HUMAN	I	405	ENSP00000357798:R405I	ENSP00000357798:R405I	R	-	2	0	MMP21	127448916	0.958000	0.32768	0.426000	0.26672	0.657000	0.38888	0.177000	0.16801	1.349000	0.45751	0.655000	0.94253	AGA		0.433	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1		
DHX32	55760	broad.mit.edu	37	10	127569241	127569241	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:127569241A>G	ENST00000284690.3	-	1	643	c.153T>C	c.(151-153)cgT>cgC	p.R51R	DHX32_ENST00000284688.6_Silent_p.R51R	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	51						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R51R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTTTATAATAACGTGATGAAT	0.393																																					p.R51R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T153C	10						.						90.0	90.0	90.0					10																	127569241		2203	4300	6503	127559231	SO:0001819	synonymous_variant	55760	exon1				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.153T>C	10.37:g.127569241A>G			127559231	NM_018180	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	CCDS7652.1																																																																																				0.393	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
ADAM12	8038	broad.mit.edu	37	10	127734666	127734666	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:127734666G>T	ENST00000368679.4	-	17	2271	c.1962C>A	c.(1960-1962)gtC>gtA	p.V654V	ADAM12_ENST00000368676.4_Silent_p.V654V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	654					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)			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)		GAACCCCAAAGACACTAATAT	0.458																																					p.V654V												.	.	0			c.C1962A	10						.						124.0	111.0	116.0					10																	127734666		2203	4300	6503	127724656	SO:0001819	synonymous_variant	8038	exon17			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.1962C>A	10.37:g.127734666G>T			127724656	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																				0.458	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
DOCK1	1793	broad.mit.edu	37	10	128908585	128908585	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:128908585G>A	ENST00000280333.6	+	25	2636	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	843					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E843K(2)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTGCTTGATCGAAATCGTCCA	0.418																																					p.E843K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2527A	10						.						86.0	81.0	82.0					10																	128908585		1924	4148	6072	128798575	SO:0001583	missense	1793	exon25			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2527G>A	10.37:g.128908585G>A	ENSP00000280333:p.Glu843Lys		128798575	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	11.48	1.650665	0.29336	.	.	ENSG00000150760	ENST00000280333	T	0.29655	1.56	4.87	4.87	0.63330	.	0.062753	0.64402	D	0.000008	T	0.12008	0.0292	N	0.01168	-0.975	0.58432	D	0.999991	B;B	0.18461	0.006;0.028	B;B	0.14023	0.01;0.01	T	0.18147	-1.0346	10	0.16420	T	0.52	.	15.9463	0.79796	0.0:0.0:1.0:0.0	.	843;843	B2RUU3;Q14185	.;DOCK1_HUMAN	K	843	ENSP00000280333:E843K	ENSP00000280333:E843K	E	+	1	0	DOCK1	128798575	1.000000	0.71417	0.954000	0.39281	0.512000	0.34134	8.448000	0.90335	2.533000	0.85409	0.655000	0.94253	GAA		0.418	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
MKI67	4288	broad.mit.edu	37	10	129906150	129906150	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:129906150C>T	ENST00000368654.3	-	13	4329	c.3954G>A	c.(3952-3954)caG>caA	p.Q1318Q	MKI67_ENST00000368653.3_Silent_p.Q958Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1318	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.Q1318Q(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)				GGTCCAGTTTCTGCACTGGAG	0.502																																					p.Q958Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2874A	10						.						206.0	201.0	202.0					10																	129906150		2203	4300	6503	129796140	SO:0001819	synonymous_variant	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.3954G>A	10.37:g.129906150C>T			129796140	NM_001145966	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MKI67	4288	broad.mit.edu	37	10	129906301	129906301	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:129906301C>T	ENST00000368654.3	-	13	4178	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R908Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1268	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.R1268Q(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)				TCTCTTGGGTCGTTGCTTTGT	0.507																																					p.R908Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2723A	10						.						220.0	211.0	214.0					10																	129906301		2203	4300	6503	129796291	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.3803G>A	10.37:g.129906301C>T	ENSP00000357643:p.Arg1268Gln		129796291	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	7.975	0.749923	0.15778	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01963	4.53;4.53	3.04	-0.112	0.13572	.	1.619920	0.04367	N	0.358471	T	0.01320	0.0043	N	0.25789	0.76	0.09310	N	1	P;P;B	0.46952	0.887;0.887;0.063	B;B;B	0.29176	0.099;0.099;0.037	T	0.47535	-0.9110	10	0.11485	T	0.65	.	4.1696	0.10324	0.1803:0.6137:0.0:0.206	.	1267;908;1268	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1268;908;1267	ENSP00000357643:R1268Q;ENSP00000357642:R908Q	ENSP00000357642:R908Q	R	-	2	0	MKI67	129796291	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.120000	0.03273	-0.154000	0.11118	0.462000	0.41574	CGA		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MKI67	4288	broad.mit.edu	37	10	129913342	129913342	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:129913342A>C	ENST00000368654.3	-	7	1705	c.1330T>G	c.(1330-1332)Ttt>Gtt	p.F444V	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	444					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.F444V(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)				AGAGTTAAAAATGGCTCATTG	0.458																																					p.F444V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1330G	10						.						117.0	119.0	118.0					10																	129913342		2203	4300	6503	129803332	SO:0001583	missense	4288	exon7			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.1330T>G	10.37:g.129913342A>C	ENSP00000357643:p.Phe444Val		129803332	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	1.558	-0.537343	0.04082	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01203	5.18	3.75	-0.128	0.13506	.	1.090280	0.07128	N	0.845006	T	0.00695	0.0023	N	0.03608	-0.345	0.09310	N	1	B	0.22800	0.075	B	0.19946	0.027	T	0.48281	-0.9049	10	0.87932	D	0	.	2.6871	0.05110	0.5188:0.0:0.2482:0.233	.	444	P46013	KI67_HUMAN	V	444	ENSP00000357643:F444V	ENSP00000357643:F444V	F	-	1	0	MKI67	129803332	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.278000	0.02809	-0.129000	0.11620	-0.274000	0.10170	TTT		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
GLRX3	10539	broad.mit.edu	37	10	131959124	131959124	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:131959124G>A	ENST00000368644.1	+	4	363	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	GLRX3_ENST00000331244.5_Missense_Mutation_p.R114Q	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	114	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.R114Q(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AAAGTTCAGCGACATGCATCT	0.423																																					p.R114Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G341A	10						.						120.0	108.0	112.0					10																	131959124		2203	4300	6503	131849114	SO:0001583	missense	10539	exon4			AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.341G>A	10.37:g.131959124G>A	ENSP00000357633:p.Arg114Gln		131849114	NM_001199868	B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947427	0.53186	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.13307	2.6;2.6	4.39	3.44	0.39384	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.17723	0.515	0.80722	D	1	B	0.19200	0.034	B	0.15484	0.013	T	0.17806	-1.0357	10	0.11794	T	0.64	-6.7734	13.5776	0.61883	0.0:0.1554:0.8446:0.0	.	114	O76003	GLRX3_HUMAN	Q	114	ENSP00000330836:R114Q;ENSP00000357633:R114Q	ENSP00000330836:R114Q	R	+	2	0	GLRX3	131849114	1.000000	0.71417	0.959000	0.39883	0.956000	0.61745	5.117000	0.64667	2.284000	0.76573	0.655000	0.94253	CGA		0.423	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541	
TCERG1L	256536	broad.mit.edu	37	10	132896612	132896612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:132896612C>A	ENST00000368642.4	-	11	1646	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	521	FF 2.							p.E480*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTGAATTCTTCTTTGGCTAGC	0.353																																					p.E521X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1561T	10						.						86.0	73.0	78.0					10																	132896612		2159	4239	6398	132786602	SO:0001587	stop_gained	256536	exon11			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1561G>T	10.37:g.132896612C>A	ENSP00000357631:p.Glu521*		132786602	NM_174937	Q5VWI2|Q86XM8	Nonsense_Mutation	SNP	ENST00000368642.4	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	38	6.861376	0.97893	.	.	ENSG00000176769	ENST00000368642	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.168	16.4983	0.84251	0.0:1.0:0.0:0.0	.	.	.	.	X	521	.	ENSP00000357631:E521X	E	-	1	0	TCERG1L	132786602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.328000	0.72915	2.226000	0.72624	0.563000	0.77884	GAA		0.353	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937	
TCERG1L	256536	broad.mit.edu	37	10	132915131	132915131	+	Silent	SNP	C	C	T	rs376560451	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:132915131C>T	ENST00000368642.4	-	9	1411	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	442								p.P401P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCTGCGGGGGCGGCGTCCTTG	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		15992	0.0		0.0	False		,,,				2504	0.002				p.P442P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1326A	10						.	C		0,4402		0,0,2201	94.0	72.0	80.0		1326	-4.5	0.0	10		80	2,8588		0,2,4293	no	coding-synonymous	TCERG1L	NM_174937.3		0,2,6494	TT,TC,CC		0.0233,0.0,0.0154		442/587	132915131	2,12990	2201	4295	6496	132805121	SO:0001819	synonymous_variant	256536	exon9			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1326G>A	10.37:g.132915131C>T			132805121	NM_174937	Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	CCDS7662.2																																																																																				0.617	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937	
LARP4B	23185	broad.mit.edu	37	10	863778	863778	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:863778C>T	ENST00000316157.3	-	14	1622	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	528					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.E528K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AGCCCCAGCTCGAAGCTTGGC	0.542																																					p.E528K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1582A	10						.						128.0	135.0	133.0					10																	863778		2203	4300	6503	853778	SO:0001583	missense	23185	exon14			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1582G>A	10.37:g.863778C>T	ENSP00000326128:p.Glu528Lys		853778	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.898382|5.898382	0.97081|0.97081	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000448368	T|.	0.37411|.	1.2|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70919|0.70919	0.3279|0.3279	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.63919|0.63919	-0.6528|-0.6528	10|5	0.72032|.	D|.	0.01|.	-3.4554|-3.4554	20.7342|20.7342	0.99715|0.99715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	528|.	Q92615|.	LAR4B_HUMAN|.	K|Q	528|93	ENSP00000326128:E528K|.	ENSP00000326128:E528K|.	E|R	-|-	1|2	0|0	LARP4B|LARP4B	853778|853778	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	7.314000|7.314000	0.78988|0.78988	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.542	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
AKR1C2	1646	broad.mit.edu	37	10	5043872	5043872	+	Splice_Site	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:5043872A>G	ENST00000380753.4	-	2	273	c.86T>C	c.(85-87)gTt>gCt	p.V29A	AKR1C2_ENST00000421196.3_Splice_Site_p.V29A|AKR1C2_ENST00000455190.1_Splice_Site_p.V29A|AKR1C2_ENST00000407674.1_Splice_Site_p.V29A	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	29					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.V29A(2)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	ACTTTTAGGAACCTGGGGGAG	0.438																																					p.V29A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T86C	10						.						83.0	83.0	83.0					10																	5043872		2203	4300	6503	5033872	SO:0001630	splice_region_variant	1646	exon3			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.85-1T>C	10.37:g.5043872A>G			5033872	NM_205845	A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Missense_Mutation	SNP	ENST00000380753.4	37	CCDS7062.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480562	0.26598	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674;ENST00000455190	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	2.31	2.31	0.28768	NADP-dependent oxidoreductase domain (3);	0.584629	0.14543	N	0.313146	T	0.15089	0.0364	N	0.12637	0.245	0.22500	N	0.99904	B;B;B	0.17465	0.013;0.022;0.013	B;B;B	0.27887	0.084;0.029;0.059	T	0.22871	-1.0204	10	0.49607	T	0.09	.	8.5226	0.33285	1.0:0.0:0.0:0.0	.	29;29;29	B4DKR9;B4DK69;P52895	.;.;AK1C2_HUMAN	A	29	ENSP00000370129:V29A;ENSP00000392694:V29A;ENSP00000385221:V29A;ENSP00000408440:V29A	ENSP00000370129:V29A	V	-	2	0	AKR1C2	5033872	1.000000	0.71417	0.907000	0.35723	0.023000	0.10783	3.606000	0.54095	1.305000	0.44909	0.163000	0.16589	GTT		0.438	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354	Missense_Mutation
NET1	10276	broad.mit.edu	37	10	5494322	5494322	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:5494322C>A	ENST00000355029.4	+	5	507	c.365C>A	c.(364-366)tCa>tAa	p.S122*	NET1_ENST00000380359.3_Splice_Site_p.S68*|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	122					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S68*(1)|p.S122*(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TTTTTTAAGTCATTTACCCTT	0.398																																					p.S68X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C203A	10						.						35.0	37.0	36.0					10																	5494322		2203	4300	6503	5484322	SO:0001630	splice_region_variant	10276	exon3			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.364-1C>A	10.37:g.5494322C>A			5484322	NM_005863	Q12773|Q96D82|Q99903|Q9UEN6	Nonsense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	38	6.764729	0.97821	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	.	.	.	5.57	5.57	0.84162	.	0.000000	0.35378	N	0.003249	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.391	18.4696	0.90767	0.0:1.0:0.0:0.0	.	.	.	.	X	122;68	.	ENSP00000347134:S122X	S	+	2	0	NET1	5484322	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.058000	0.57463	2.779000	0.95612	0.655000	0.94253	TCA		0.398	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863	Nonsense_Mutation
ANKRD16	54522	broad.mit.edu	37	10	5929964	5929964	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:5929964G>A	ENST00000380094.5	-	2	924	c.381C>T	c.(379-381)ggC>ggT	p.G127G	FBXO18_ENST00000362091.4_5'Flank|ANKRD16_ENST00000191063.8_Silent_p.G127G|ANKRD16_ENST00000380092.4_Silent_p.G127G|FBXO18_ENST00000397269.3_5'Flank	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	127								p.G127G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GTGGATTGGCGCCATGTTCCA	0.552																																					p.G127G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C381T	10						.						141.0	138.0	139.0					10																	5929964		2203	4300	6503	5969970	SO:0001819	synonymous_variant	54522	exon2			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.381C>T	10.37:g.5929964G>A			5969970	NM_001009943	A6NEF0|F8WEI4|Q9NT01	Silent	SNP	ENST00000380094.5	37	CCDS31136.1																																																																																				0.552	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138	
FBXO18	84893	broad.mit.edu	37	10	5965659	5965659	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:5965659C>T	ENST00000362091.4	+	16	2513	c.2398C>T	c.(2398-2400)Caa>Taa	p.Q800*	FBXO18_ENST00000379999.5_Splice_Site_p.Q851*|FBXO18_ENST00000397269.3_Splice_Site_p.Q287*	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	800					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.Q851*(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACGGAGGAAACGTGAGTACCC	0.493																																					p.Q851X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2551T	10						.						81.0	81.0	81.0					10																	5965659		2203	4300	6503	6005665	SO:0001630	splice_region_variant	84893	exon17			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2398+1C>T	10.37:g.5965659C>T			6005665	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Nonsense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	41	9.049295	0.99048	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.9	5.9	0.94986	.	1.078120	0.06990	N	0.821478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-1.2459	12.7389	0.57239	0.1641:0.8359:0.0:0.0	.	.	.	.	X	287;800;851	.	ENSP00000355415:Q800X	Q	+	1	0	FBXO18	6005665	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.761000	0.26489	2.811000	0.96726	0.558000	0.71614	CAA		0.493	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	Nonsense_Mutation
SFMBT2	57713	broad.mit.edu	37	10	7244459	7244459	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:7244459G>A	ENST00000361972.4	-	13	1560	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	SFMBT2_ENST00000397167.1_Silent_p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	490					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.V490V(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						CTGGTTGCACGACTGCAATCT	0.398																																					p.V490V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1470T	10						.						168.0	142.0	151.0					10																	7244459		2203	4300	6503	7284465	SO:0001819	synonymous_variant	57713	exon13			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.1470C>T	10.37:g.7244459G>A			7284465	NM_001029880	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.398	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
KIN	22944	broad.mit.edu	37	10	7825108	7825108	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:7825108A>G	ENST00000379562.4	-	2	192	c.145T>C	c.(145-147)Tct>Cct	p.S49P	KIN_ENST00000535925.1_Missense_Mutation_p.S49P|KIN_ENST00000543003.1_Intron	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein									p.S49P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CTCTGATGAGATTCGGACATA	0.323																																					p.S49P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T145C	10						.						60.0	60.0	60.0					10																	7825108		2203	4296	6499	7865114	SO:0001583	missense	22944	exon2			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.145T>C	10.37:g.7825108A>G	ENSP00000368881:p.Ser49Pro		7865114	NM_012311		Missense_Mutation	SNP	ENST00000379562.4	37	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359749	0.82353	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	6.06	4.93	0.64822	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	M	0.72118	2.19	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.59752	-0.7395	9	0.66056	D	0.02	-18.1873	11.6598	0.51339	0.9306:0.0:0.0693:0.0	.	49;49	B4DX32;O60870	.;KIN17_HUMAN	P	49	.	ENSP00000368881:S49P	S	-	1	0	KIN	7865114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.185000	0.94900	1.120000	0.41904	0.528000	0.53228	TCT		0.323	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	
HSPA14	51182	broad.mit.edu	37	10	14912635	14912635	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:14912635C>T	ENST00000378372.3	+	13	1659	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	474					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.R474C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AAATGGATTACGTGATATATT	0.264																																					p.R474C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1420T	10						.						63.0	64.0	64.0					10																	14912635		2201	4287	6488	14952641	SO:0001583	missense	51182	exon13			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1420C>T	10.37:g.14912635C>T	ENSP00000367623:p.Arg474Cys		14952641	NM_016299	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652368	0.88056	.	.	ENSG00000187522	ENST00000378372	T	0.01015	5.44	5.41	5.41	0.78517	.	0.193739	0.53938	D	0.000045	T	0.01592	0.0051	N	0.22421	0.69	0.80722	D	1	D	0.58620	0.983	P	0.47376	0.545	T	0.72114	-0.4388	10	0.87932	D	0	-5.9933	19.5461	0.95297	0.0:1.0:0.0:0.0	.	474	Q0VDF9	HSP7E_HUMAN	C	474	ENSP00000367623:R474C	ENSP00000367623:R474C	R	+	1	0	HSPA14	14952641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.688000	0.91661	0.655000	0.94253	CGT		0.264	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299	
FAM171A1	221061	broad.mit.edu	37	10	15256417	15256417	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:15256417C>T	ENST00000378116.4	-	8	1176	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	390						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCAGTTCCTTCGTGCCGGGGG	0.617																																					p.T390T												.	.	0			c.G1170A	10						.						45.0	51.0	49.0					10																	15256417		2203	4300	6503	15296423	SO:0001819	synonymous_variant	221061	exon8			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1170G>A	10.37:g.15256417C>T			15296423	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	CCDS31154.1																																																																																				0.617	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
ITGA8	8516	broad.mit.edu	37	10	15726019	15726019	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:15726019G>T	ENST00000378076.3	-	4	905	c.552C>A	c.(550-552)ttC>ttA	p.F184L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	184					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.F184L(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						GGCAAGGAGAGAACTCGGCAT	0.458																																					p.F184L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C552A	10						.						99.0	100.0	99.0					10																	15726019		2203	4300	6503	15766025	SO:0001583	missense	8516	exon4			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.552C>A	10.37:g.15726019G>T	ENSP00000367316:p.Phe184Leu		15766025	NM_003638	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379064	0.42207	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.55413	0.52	5.79	1.82	0.25136	.	0.109676	0.64402	D	0.000004	T	0.30324	0.0761	N	0.10809	0.05	0.35161	D	0.770675	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.15954	-1.0419	10	0.35671	T	0.21	.	10.3792	0.44101	0.4045:0.0:0.5955:0.0	.	184;184	F5H818;P53708	.;ITA8_HUMAN	L	184	ENSP00000367316:F184L	ENSP00000367316:F184L	F	-	3	2	ITGA8	15766025	0.999000	0.42202	0.997000	0.53966	0.724000	0.41520	0.565000	0.23578	0.076000	0.16826	-0.768000	0.03414	TTC		0.458	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
PTER	9317	broad.mit.edu	37	10	16547115	16547115	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:16547115C>T	ENST00000378000.1	+	5	1041	c.795C>T	c.(793-795)ctC>ctT	p.L265L	PTER_ENST00000535784.2_Silent_p.L265L|PTER_ENST00000423462.2_Intron|PTER_ENST00000298942.3_Silent_p.L265L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	265					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.L265L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATTACCAACTCGGCCCAGATA	0.398																																					p.L265L	Ovarian(2;46 150 15648 38137 47908)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	10						.						163.0	157.0	160.0					10																	16547115		2203	4300	6503	16587121	SO:0001819	synonymous_variant	9317	exon5			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.795C>T	10.37:g.16547115C>T			16587121	NM_001001484	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	CCDS7111.1																																																																																				0.398	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664	
CUBN	8029	broad.mit.edu	37	10	17127702	17127702	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:17127702G>T	ENST00000377833.4	-	16	2069	c.2004C>A	c.(2002-2004)ttC>ttA	p.F668L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	668	CUB 2. {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.F668L(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)	GTGGGACAGAGAAAGTGGTGC	0.453																																					p.F668L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2004A	10						.						83.0	84.0	83.0					10																	17127702		2203	4300	6503	17167708	SO:0001583	missense	8029	exon16			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.2004C>A	10.37:g.17127702G>T	ENSP00000367064:p.Phe668Leu		17167708	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	3.041	-0.197425	0.06259	.	.	ENSG00000107611	ENST00000377833	T	0.16897	2.31	5.83	-2.98	0.05513	CUB (5);	0.558346	0.13010	N	0.420946	T	0.04092	0.0114	N	0.01438	-0.865	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39840	-0.9594	10	0.19590	T	0.45	.	4.0131	0.09631	0.1679:0.3968:0.2946:0.1408	.	668	O60494	CUBN_HUMAN	L	668	ENSP00000367064:F668L	ENSP00000367064:F668L	F	-	3	2	CUBN	17167708	0.000000	0.05858	0.006000	0.13384	0.621000	0.37620	-0.392000	0.07314	-0.375000	0.07955	-0.137000	0.14449	TTC		0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
TRDMT1	1787	broad.mit.edu	37	10	17203522	17203522	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:17203522G>T	ENST00000377799.3	-	5	396	c.349C>A	c.(349-351)Ctt>Att	p.L117I	TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000358282.7_Missense_Mutation_p.S67Y|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.L93I|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000351358.4_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	117	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)	p.L117I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TTTTCCAAAAGAATATACTTT	0.239																																					p.L117I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349A	10						.						21.0	21.0	21.0					10																	17203522		2099	4171	6270	17243528	SO:0001583	missense	1787	exon5			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.349C>A	10.37:g.17203522G>T	ENSP00000367030:p.Leu117Ile		17243528	NM_004412	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.51|19.51	3.841163|3.841163	0.71488|0.71488	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000525762|ENST00000358282	D;D;D|.	0.85171|.	-1.95;-1.95;-1.95|.	5.89|5.89	4.97|4.97	0.65823|0.65823	.|.	0.057272|.	0.64402|.	D|.	0.000001|.	T|T	0.59224|0.59224	0.2178|0.2178	M|M	0.67397|0.67397	2.05|2.05	0.29032|0.29032	N|N	0.885666|0.885666	P;P;D;P|.	0.55800|.	0.956;0.956;0.973;0.956|.	D;P;D;P|.	0.70935|.	0.971;0.898;0.914;0.898|.	T|T	0.57849|0.57849	-0.7740|-0.7740	10|6	0.48119|0.45353	T|T	0.1|0.12	-15.6243|-15.6243	15.2263|15.2263	0.73354|0.73354	0.0:0.14:0.86:0.0|0.0:0.14:0.86:0.0	.|.	46;117;93;117|.	B7Z1Y7;Q6ICS7;O14717-2;O14717|.	.;.;.;TRDMT_HUMAN|.	I|Y	117;93;75|67	ENSP00000367030:L117I;ENSP00000409354:L93I;ENSP00000431476:L75I|.	ENSP00000367030:L117I|ENSP00000351027:S67Y	L|S	-|-	1|2	0|0	TRDMT1|TRDMT1	17243528|17243528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.085000|3.085000	0.50151|0.50151	1.460000|1.460000	0.47911|0.47911	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.239	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412	
SLC39A12	221074	broad.mit.edu	37	10	18242269	18242269	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:18242269T>G	ENST00000377369.2	+	2	337	c.64T>G	c.(64-66)Ttt>Gtt	p.F22V	SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.F22V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.F22V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	22					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.F22V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGCCGTGTTTTTTCTACTGA	0.532																																					p.F22V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T64G	10						.						112.0	111.0	111.0					10																	18242269		2203	4300	6503	18282275	SO:0001583	missense	221074	exon2				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.64T>G	10.37:g.18242269T>G	ENSP00000366586:p.Phe22Val		18282275	NM_001145195	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	T	8.052	0.766142	0.15983	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.19938	2.11;2.11;2.11	5.44	-1.12	0.09808	.	1.539330	0.03054	N	0.154948	T	0.11537	0.0281	N	0.14661	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	0.21381	-1.0247	10	0.40728	T	0.16	0.0059	1.9265	0.03318	0.1884:0.1794:0.4054:0.2268	.	22;22;22	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	V	22	ENSP00000366586:F22V;ENSP00000366591:F22V;ENSP00000366588:F22V	ENSP00000366586:F22V	F	+	1	0	SLC39A12	18282275	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.070000	0.11523	-0.384000	0.07845	-1.252000	0.01501	TTT		0.532	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	
NEBL	10529	broad.mit.edu	37	10	21074832	21074832	+	Silent	SNP	G	G	A	rs202184399		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:21074832G>A	ENST00000377122.4	-	28	3285	c.2889C>T	c.(2887-2889)taC>taT	p.Y963Y	NEBL_ENST00000377159.4_Silent_p.Y185Y|NEBL_ENST00000417816.2_Silent_p.Y219Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	963	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.Y963Y(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						CACTGTAATCGTACATGGCTC	0.507																																					p.R219X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C655T	10						.						126.0	107.0	114.0					10																	21074832		2203	4300	6503	21114838	SO:0001819	synonymous_variant	10529	exon7			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.2889C>T	10.37:g.21074832G>A			21114838	NM_001173484	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																				0.507	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
SKIDA1	387640	broad.mit.edu	37	10	21804726	21804726	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:21804726C>T	ENST00000449193.2	-	4	4278	c.2026G>A	c.(2026-2028)Gac>Aac	p.D676N	SKIDA1_ENST00000444772.3_Missense_Mutation_p.D597N	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	595						nucleus (GO:0005634)		p.D676N(2)									AATGTCTTGTCGCCTGTGTCA	0.428																																					p.D676N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2026A	10						.						59.0	61.0	61.0					10																	21804726		1958	4162	6120	21844732	SO:0001583	missense	387640	exon4			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2026G>A	10.37:g.21804726C>T	ENSP00000410041:p.Asp676Asn		21844732	NM_207371	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.289490	0.00248	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.24	3.21	0.36854	.	0.367953	0.28247	N	0.016050	T	0.14787	0.0357	N	0.04880	-0.145	0.09310	N	0.999991	B	0.11235	0.004	B	0.04013	0.001	T	0.19451	-1.0305	9	0.16420	T	0.52	-12.1948	6.7416	0.23439	0.0:0.6882:0.1748:0.137	.	676	E9PAX1	.	N	676;597	.	ENSP00000442432:D597N	D	-	1	0	C10orf140	21844732	0.947000	0.32204	0.740000	0.30986	0.082000	0.17680	1.699000	0.37804	1.428000	0.47296	0.644000	0.83932	GAC		0.428	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371	
PTF1A	256297	broad.mit.edu	37	10	23482748	23482748	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:23482748C>T	ENST00000376504.3	+	2	1104	c.900C>T	c.(898-900)gtC>gtT	p.V300V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	300					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.V300V(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGCCAAAGTCTGGACCCCAG	0.468																																					p.V300V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C900T	10						.						122.0	140.0	134.0					10																	23482748		2203	4300	6503	23522754	SO:0001819	synonymous_variant	256297	exon2			BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.900C>T	10.37:g.23482748C>T			23522754	NM_178161	Q9HC25	Silent	SNP	ENST00000376504.3	37	CCDS7143.1																																																																																				0.468	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161	
KIAA1217	56243	broad.mit.edu	37	10	24722053	24722053	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:24722053A>G	ENST00000376454.3	+	4	713	c.683A>G	c.(682-684)gAa>gGa	p.E228G	KIAA1217_ENST00000430453.2_Missense_Mutation_p.E149G|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E148G|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E228G|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E228G	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	228					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.E228G(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						AAAATGCTGGAATCGCCCAGT	0.428																																					p.E228G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A683G	10						.						119.0	105.0	110.0					10																	24722053		2203	4300	6503	24762059	SO:0001583	missense	56243	exon4			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.683A>G	10.37:g.24722053A>G	ENSP00000365637:p.Glu228Gly		24762059	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782189	0.90282	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.77	5.77	0.91146	.	0.151918	0.64402	D	0.000017	T	0.68632	0.3022	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.993;0.994;0.974	T	0.71922	-0.4446	10	0.72032	D	0.01	.	16.0992	0.81158	1.0:0.0:0.0:0.0	.	228;228;228;228	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	G	148;228;228;228;228;78;149	ENSP00000365645:E148G;ENSP00000365639:E228G;ENSP00000392625:E228G;ENSP00000365637:E228G;ENSP00000365635:E228G;ENSP00000404798:E78G;ENSP00000389680:E149G	ENSP00000365635:E228G	E	+	2	0	KIAA1217	24762059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.201000	0.70794	0.523000	0.50628	GAA		0.428	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
KIAA1217	56243	broad.mit.edu	37	10	24832768	24832768	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:24832768A>G	ENST00000376454.3	+	19	4599	c.4569A>G	c.(4567-4569)ccA>ccG	p.P1523P	KIAA1217_ENST00000376451.2_Silent_p.P1206P|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1523					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.P1523P(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						AGTCACAGCCACACTCCCTGG	0.488																																					p.P1523P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4569G	10						.						60.0	56.0	57.0					10																	24832768		2203	4300	6503	24872774	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.4569A>G	10.37:g.24832768A>G			24872774	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.488	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
PTCHD3	374308	broad.mit.edu	37	10	27702567	27702567	+	Missense_Mutation	SNP	C	C	T	rs201665328	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:27702567C>T	ENST00000438700.3	-	1	730	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	205					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.E205K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AAATTGGCTTCGGTGCTCCTC	0.632													C|||	3	0.000599042	0.0008	0.0	5008	,	,		18251	0.001		0.001	False		,,,				2504	0.0				p.E205K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613A	10						.						54.0	57.0	56.0					10																	27702567		2203	4300	6503	27742573	SO:0001583	missense	374308	exon1			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.613G>A	10.37:g.27702567C>T	ENSP00000417658:p.Glu205Lys		27742573	NM_001034842	I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	5.699	0.313452	0.10789	.	.	ENSG00000182077	ENST00000438700	D	0.85411	-1.98	3.65	2.74	0.32292	.	0.390448	0.27739	N	0.018051	T	0.77267	0.4105	M	0.61703	1.905	0.09310	N	1	B	0.26975	0.165	B	0.23419	0.046	T	0.58418	-0.7640	10	0.07482	T	0.82	-5.6038	7.3213	0.26529	0.0:0.7915:0.0:0.2085	.	205	Q3KNS1	PTHD3_HUMAN	K	205	ENSP00000417658:E205K	ENSP00000417658:E205K	E	-	1	0	PTCHD3	27742573	0.146000	0.22672	0.001000	0.08648	0.004000	0.04260	2.489000	0.45285	0.742000	0.32697	0.555000	0.69702	GAA		0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
WAC	51322	broad.mit.edu	37	10	28906637	28906637	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:28906637G>A	ENST00000354911.4	+	13	1959	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	WAC_ENST00000375646.1_Missense_Mutation_p.E448K|WAC_ENST00000375664.4_Missense_Mutation_p.E555K|WAC_ENST00000347934.4_Missense_Mutation_p.E497K	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	600					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.E600K(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCACATGTCCGAAATTTGTAC	0.308																																					p.E497K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1489A	10						.						36.0	39.0	38.0					10																	28906637		2203	4299	6502	28946643	SO:0001583	missense	51322	exon12			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1798G>A	10.37:g.28906637G>A	ENSP00000346986:p.Glu600Lys		28946643	NM_100486	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238439	0.79800	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	L	0.27053	0.805	0.80722	D	1	D;P;D	0.76494	0.999;0.891;0.999	D;P;D	0.76575	0.988;0.504;0.972	T	0.55328	-0.8158	10	0.52906	T	0.07	-13.992	19.5403	0.95271	0.0:0.0:1.0:0.0	.	555;497;600	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	K	555;448;497;600	ENSP00000364816:E555K;ENSP00000364797:E448K;ENSP00000311106:E497K;ENSP00000346986:E600K	ENSP00000311106:E497K	E	+	1	0	WAC	28946643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.619000	0.88677	0.655000	0.94253	GAA		0.308	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	
BAMBI	25805	broad.mit.edu	37	10	28971216	28971216	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:28971216G>T	ENST00000375533.3	+	3	1225	c.669G>T	c.(667-669)gaG>gaT	p.E223D		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	223					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E223D(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTGGGCACGAGAACTGCTGTC	0.522																																					p.E223D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G669T	10						.						106.0	98.0	101.0					10																	28971216		2203	4300	6503	29011222	SO:0001583	missense	25805	exon3			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.669G>T	10.37:g.28971216G>T	ENSP00000364683:p.Glu223Asp		29011222	NM_012342		Missense_Mutation	SNP	ENST00000375533.3	37	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173726	0.57692	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.92	4.04	0.47022	.	0.043447	0.85682	N	0.000000	T	0.64527	0.2606	L	0.51422	1.61	0.54753	D	0.999987	D	0.69078	0.997	D	0.72625	0.978	T	0.61098	-0.7131	9	0.34782	T	0.22	.	6.2264	0.20710	0.2089:0.1365:0.6546:0.0	.	223	Q13145	BAMBI_HUMAN	D	223;210	.	ENSP00000364683:E223D	E	+	3	2	BAMBI	29011222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.589000	0.61006	0.820000	0.34516	0.655000	0.94253	GAG		0.522	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342	
SVIL	6840	broad.mit.edu	37	10	29840042	29840042	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:29840042C>A	ENST00000355867.4	-	6	1063	c.311G>T	c.(310-312)aGa>aTa	p.R104I	SVIL_ENST00000375398.2_Missense_Mutation_p.R104I|SVIL_ENST00000375400.3_Missense_Mutation_p.R104I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	104	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.R104I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTTGCAATTCTTTCGGCTTT	0.532																																					p.R104I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G311T	10						.						181.0	153.0	162.0					10																	29840042		2203	4300	6503	29880048	SO:0001583	missense	6840	exon8			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.311G>T	10.37:g.29840042C>A	ENSP00000348128:p.Arg104Ile		29880048	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721963	0.68959	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.55052	0.54;0.54;0.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73845	-0.3854	9	.	.	.	-20.9061	19.203	0.93719	0.0:1.0:0.0:0.0	.	104;104	O95425-2;O95425	.;SVIL_HUMAN	I	104	ENSP00000364549:R104I;ENSP00000364547:R104I;ENSP00000348128:R104I	.	R	-	2	0	SVIL	29880048	0.997000	0.39634	0.014000	0.15608	0.114000	0.19823	6.870000	0.75526	2.535000	0.85469	0.591000	0.81541	AGA		0.532	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
KIAA1462	57608	broad.mit.edu	37	10	30316632	30316632	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:30316632G>T	ENST00000375377.1	-	3	2546	c.2445C>A	c.(2443-2445)ctC>ctA	p.L815L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	815					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.L815L(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						ACTGCCCAAAGAGTTGTTTAC	0.567																																					p.L815L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2445A	10						.						93.0	95.0	95.0					10																	30316632		1912	4134	6046	30356638	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.2445C>A	10.37:g.30316632G>T			30356638	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.567	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
PARD3	56288	broad.mit.edu	37	10	34688310	34688310	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:34688310C>T	ENST00000374789.3	-	7	1163	c.838G>A	c.(838-840)Gat>Aat	p.D280N	PARD3_ENST00000340077.5_Missense_Mutation_p.D280N|PARD3_ENST00000374794.3_Missense_Mutation_p.D236N|PARD3_ENST00000346874.4_Missense_Mutation_p.D280N|PARD3_ENST00000544292.1_Missense_Mutation_p.D10N|PARD3_ENST00000374788.3_Missense_Mutation_p.D280N|PARD3_ENST00000374790.3_Missense_Mutation_p.D236N|PARD3_ENST00000374776.1_Missense_Mutation_p.D280N|PARD3_ENST00000350537.4_Missense_Mutation_p.D280N|PARD3_ENST00000545260.1_Missense_Mutation_p.D236N|PARD3_ENST00000545693.1_Missense_Mutation_p.D280N|PARD3_ENST00000374773.1_Missense_Mutation_p.D280N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	280	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D280N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGCCCTCCATCGTTGGGGACT	0.433																																					p.D280N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	10						.						134.0	132.0	133.0					10																	34688310		2203	4300	6503	34728316	SO:0001583	missense	56288	exon7			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.838G>A	10.37:g.34688310C>T	ENSP00000363921:p.Asp280Asn		34728316	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852486	0.91355	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.47	5.87	5.87	0.94306	PDZ/DHR/GLGF (2);	0.044937	0.85682	D	0.000000	T	0.35068	0.0919	L	0.46157	1.445	0.80722	D	1	P;P;D;D;D;P;D;P;P;P;P;P;P;B	0.55800	0.703;0.917;0.973;0.97;0.973;0.846;0.97;0.898;0.898;0.949;0.846;0.857;0.552;0.31	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43916	0.181;0.202;0.436;0.41;0.436;0.271;0.41;0.246;0.18;0.233;0.168;0.33;0.232;0.09	T	0.04565	-1.0942	10	0.46703	T	0.11	.	19.7942	0.96472	0.0:1.0:0.0:0.0	.	236;236;280;280;280;280;280;280;236;280;280;280;280;10	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.	N	280;236;280;280;280;236;280;236;280;280;280;10	ENSP00000443147:D280N;ENSP00000440857:D236N;ENSP00000363921:D280N;ENSP00000363920:D280N;ENSP00000340591:D280N;ENSP00000363926:D236N;ENSP00000311986:D280N;ENSP00000363922:D236N;ENSP00000363908:D280N;ENSP00000341844:D280N;ENSP00000363905:D280N;ENSP00000444429:D10N	ENSP00000341844:D280N	D	-	1	0	PARD3	34728316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.899000	0.75682	2.775000	0.95449	0.650000	0.86243	GAT		0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
GJD4	219770	broad.mit.edu	37	10	35897057	35897057	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:35897057G>A	ENST00000321660.1	+	2	774	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	206					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.A206T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCGGTCAGCGCGCTGTCTTT	0.692																																					p.A206T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616A	10						.						24.0	16.0	19.0					10																	35897057		2196	4283	6479	35937063	SO:0001583	missense	219770	exon2			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.616G>A	10.37:g.35897057G>A	ENSP00000315070:p.Ala206Thr		35937063	NM_153368	Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627924	0.46944	.	.	ENSG00000177291	ENST00000321660	D	0.95622	-3.76	5.71	4.81	0.61882	Gap junction protein, cysteine-rich domain (1);	0.939104	0.09135	N	0.843812	D	0.94185	0.8134	M	0.77103	2.36	0.09310	N	1	P	0.45827	0.867	B	0.36092	0.217	D	0.87050	0.2146	10	0.37606	T	0.19	.	12.0088	0.53276	0.151:0.0:0.849:0.0	.	206	Q96KN9	CXD4_HUMAN	T	206	ENSP00000315070:A206T	ENSP00000315070:A206T	A	+	1	0	GJD4	35937063	0.137000	0.22531	0.005000	0.12908	0.072000	0.16883	2.674000	0.46867	1.548000	0.49413	0.655000	0.94253	GCG		0.692	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368	
ZNF248	57209	broad.mit.edu	37	10	38121351	38121351	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:38121351G>A	ENST00000395867.3	-	6	1482	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.A311V|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	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)	p.A311V(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GATAATGAAAGCTGAATTGTC	0.363																																					p.A311V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C932T	10						.						94.0	94.0	94.0					10																	38121351		2203	4300	6503	38161357	SO:0001583	missense	57209	exon6			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.932C>T	10.37:g.38121351G>A	ENSP00000379208:p.Ala311Val		38161357	NM_021045	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379519	0.24944	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.28666	1.6;1.6	4.71	4.71	0.59529	.	0.405034	0.21388	N	0.075350	T	0.19248	0.0462	L	0.28344	0.845	0.27270	N	0.958395	B	0.28713	0.22	B	0.25140	0.058	T	0.10132	-1.0643	10	0.18276	T	0.48	.	10.5687	0.45188	0.0:0.0:0.8075:0.1925	.	311	Q8NDW4	ZN248_HUMAN	V	311	ENSP00000379208:A311V;ENSP00000349882:A311V	ENSP00000349882:A311V	A	-	2	0	ZNF248	38161357	0.000000	0.05858	1.000000	0.80357	0.855000	0.48748	-0.116000	0.10724	2.612000	0.88384	0.563000	0.77884	GCT		0.363	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
ZNF33B	7582	broad.mit.edu	37	10	43127382	43127382	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:43127382A>C	ENST00000359467.3	-	4	359	c.245T>G	c.(244-246)tTt>tGt	p.F82C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	82	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.F82C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCCACCTGGAAAGCTCTGGCT	0.443																																					p.F82C	Melanoma(137;1247 1767 16772 25727 43810)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T245G	10						.						261.0	259.0	260.0					10																	43127382		2203	4300	6503	42447388	SO:0001583	missense	7582	exon4			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.245T>G	10.37:g.43127382A>C	ENSP00000352444:p.Phe82Cys		42447388	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	A	7.062	0.566622	0.13560	.	.	ENSG00000196693	ENST00000359467	T	0.04862	3.54	1.58	-1.5	0.08691	Krueppel-associated box (1);	.	.	.	.	T	0.03263	0.0095	N	0.00382	-1.575	0.09310	N	1	B;D	0.76494	0.027;0.999	B;D	0.77557	0.021;0.99	T	0.28996	-1.0026	9	0.30854	T	0.27	.	2.2474	0.04034	0.4208:0.2919:0.0:0.2873	.	82;82	Q3B799;Q06732	.;ZN33B_HUMAN	C	82	ENSP00000352444:F82C	ENSP00000352444:F82C	F	-	2	0	ZNF33B	42447388	0.013000	0.17824	0.002000	0.10522	0.003000	0.03518	-0.011000	0.12721	-0.384000	0.07845	-0.656000	0.03901	TTT		0.443	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955	
BMS1	9790	broad.mit.edu	37	10	43292951	43292951	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:43292951G>A	ENST00000374518.5	+	11	2132	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	690					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R690Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAAACCTCCGAAAGCTTATT	0.458																																					p.R690Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2069A	10						.						85.0	88.0	87.0					10																	43292951		2203	4300	6503	42612957	SO:0001583	missense	9790	exon11			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2069G>A	10.37:g.43292951G>A	ENSP00000363642:p.Arg690Gln		42612957	NM_014753	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089549	0.36855	.	.	ENSG00000165733	ENST00000374518	T	0.08102	3.13	5.36	3.5	0.40072	.	0.067610	0.64402	D	0.000017	T	0.06735	0.0172	L	0.36672	1.1	0.39421	D	0.966921	B	0.19073	0.033	B	0.15484	0.013	T	0.26467	-1.0102	10	0.13108	T	0.6	.	10.661	0.45702	0.0687:0.0:0.7986:0.1327	.	690	Q14692	BMS1_HUMAN	Q	690	ENSP00000363642:R690Q	ENSP00000363642:R690Q	R	+	2	0	BMS1	42612957	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	4.869000	0.63028	0.744000	0.32741	-0.182000	0.12963	CGA		0.458	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
CSGALNACT2	55454	broad.mit.edu	37	10	43662509	43662509	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:43662509C>T	ENST00000374466.3	+	6	1552	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	406					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.A406V(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTGTTTATGCCAACCAGGAA	0.378																																					p.A406V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1217T	10						.						71.0	68.0	69.0					10																	43662509		2203	4300	6503	42982515	SO:0001583	missense	55454	exon6			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1217C>T	10.37:g.43662509C>T	ENSP00000363590:p.Ala406Val		42982515	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968924	0.92855	.	.	ENSG00000169826	ENST00000374466	T	0.16457	2.34	5.83	5.83	0.93111	.	0.045891	0.85682	D	0.000000	T	0.31606	0.0802	M	0.66939	2.045	0.80722	D	1	P	0.48589	0.912	P	0.48334	0.574	T	0.00945	-1.1505	10	0.48119	T	0.1	-12.2473	20.1141	0.97919	0.0:1.0:0.0:0.0	.	406	Q8N6G5	CGAT2_HUMAN	V	406	ENSP00000363590:A406V	ENSP00000363590:A406V	A	+	2	0	CSGALNACT2	42982515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.699000	0.61796	2.757000	0.94681	0.591000	0.81541	GCC		0.378	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
ZNF485	220992	broad.mit.edu	37	10	44112443	44112443	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:44112443A>C	ENST00000361807.3	+	5	1146	c.952A>C	c.(952-954)Aga>Cga	p.R318R	ZNF485_ENST00000374435.3_Silent_p.R318R|ZNF485_ENST00000374437.2_Silent_p.R227R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	318					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.R279R(1)|p.R318R(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TAGTCACCAAAGAATGCATAC	0.403																																					p.R318R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A952C	10						.						108.0	113.0	111.0					10																	44112443		2203	4300	6503	43432449	SO:0001819	synonymous_variant	220992	exon5			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.952A>C	10.37:g.44112443A>C			43432449	NM_145312	B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	37	CCDS7205.2																																																																																				0.403	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312	
ZNF32	7580	broad.mit.edu	37	10	44139878	44139878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:44139878G>A	ENST00000395797.1	-	3	630	c.442C>T	c.(442-444)Ctc>Ttc	p.L148F	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.L148F	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	148					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.L148F(1)		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)		TGGACAGCGAGACTACCTCGT	0.498																																					p.L148F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C442T	10						.						141.0	131.0	134.0					10																	44139878		2203	4300	6503	43459884	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.442C>T	10.37:g.44139878G>A	ENSP00000379143:p.Leu148Phe		43459884	NM_006973	Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185449	0.57909	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.52057	0.68;0.68	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38436	N	0.001700	T	0.54870	0.1885	L	0.55017	1.72	0.21290	N	0.999737	P	0.48834	0.916	P	0.51385	0.668	T	0.52487	-0.8569	10	0.66056	D	0.02	-6.5983	15.5643	0.76277	0.0:0.0:1.0:0.0	.	148	P17041	ZNF32_HUMAN	F	148	ENSP00000363556:L148F;ENSP00000379143:L148F	ENSP00000363556:L148F	L	-	1	0	ZNF32	43459884	0.891000	0.30450	1.000000	0.80357	0.988000	0.76386	1.167000	0.31847	2.796000	0.96246	0.655000	0.94253	CTC		0.498	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973	
ALOX5	240	broad.mit.edu	37	10	45878098	45878098	+	Silent	SNP	C	C	T	rs150281723	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:45878098C>T	ENST00000374391.2	+	2	371	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALOX5_ENST00000542434.1_Silent_p.G106G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	106	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.G106G(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GGATCACCGGCGATGTCGAGG	0.592													C|||	12	0.00239617	0.0	0.0	5008	,	,		20608	0.0109		0.0	False		,,,				2504	0.001				p.G106G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	10						.	C		0,4406		0,0,2203	61.0	50.0	54.0		318	-7.7	0.1	10	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	ALOX5	NM_000698.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		106/675	45878098	1,13005	2203	4300	6503	45198104	SO:0001819	synonymous_variant	240	exon2			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.318C>T	10.37:g.45878098C>T			45198104	NM_000698	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	CCDS7212.1																																																																																				0.592	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		
ALOX5	240	broad.mit.edu	37	10	45936008	45936008	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:45936008G>A	ENST00000374391.2	+	8	1165	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R371Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	371	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.R371Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CACCTTCTGCGAACACATCTG	0.537																																					p.R371Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1112A	10						.						110.0	83.0	92.0					10																	45936008		2203	4300	6503	45256014	SO:0001583	missense	240	exon8			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1112G>A	10.37:g.45936008G>A	ENSP00000363512:p.Arg371Gln		45256014	NM_000698	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357962	0.41801	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.78126	-1.15;-1.15	5.96	5.96	0.96718	Lipoxygenase, C-terminal (4);	0.252412	0.46145	D	0.000320	T	0.69726	0.3143	M	0.70787	2.145	0.43214	D	0.995087	P;B;B	0.45176	0.852;0.157;0.276	B;B;B	0.29176	0.099;0.031;0.038	T	0.71856	-0.4466	10	0.35671	T	0.21	-26.3567	11.2072	0.48775	0.0827:0.0:0.9173:0.0	.	371;371;371	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	Q	371	ENSP00000437634:R371Q;ENSP00000363512:R371Q	ENSP00000363512:R371Q	R	+	2	0	ALOX5	45256014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.062000	0.89475	2.833000	0.97629	0.650000	0.86243	CGA		0.537	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		
NPY4R	5540	broad.mit.edu	37	10	47087112	47087112	+	Missense_Mutation	SNP	G	G	A	rs553146027		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:47087112G>A	ENST00000395716.1	+	2	414	c.329G>A	c.(328-330)gGa>gAa	p.G110E	NPY4R_ENST00000374312.1_Missense_Mutation_p.G110E			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	110					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.G110E(1)									TGGATCTTTGGAGAGACCCTC	0.582																																					p.G110E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	10						.						237.0	218.0	225.0					10																	47087112		2203	4300	6503	46507118	SO:0001583	missense	5540	exon3				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.329G>A	10.37:g.47087112G>A	ENSP00000379066:p.Gly110Glu		46507118	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231982	0.58777	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.49720	0.77;0.77	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84248	0.0476	10	0.87932	D	0	.	16.1721	0.81825	0.0:0.0:1.0:0.0	.	110	P50391	NPY4R_HUMAN	E	110	ENSP00000363431:G110E;ENSP00000379066:G110E	ENSP00000363431:G110E	G	+	2	0	PPYR1	46507118	1.000000	0.71417	0.559000	0.28332	0.087000	0.18053	9.217000	0.95160	2.499000	0.84300	0.655000	0.94253	GGA		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
LRRC18	474354	broad.mit.edu	37	10	50122063	50122063	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:50122063A>C	ENST00000374160.3	-	1	214	c.138T>G	c.(136-138)atT>atG	p.I46M	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.I46M|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	46						cytoplasm (GO:0005737)		p.I46M(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TAAGGCGCAGAATACACTTGG	0.507																																					p.I46M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T138G	10						.						99.0	86.0	90.0					10																	50122063		2203	4300	6503	49792069	SO:0001583	missense	474354	exon1			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.138T>G	10.37:g.50122063A>C	ENSP00000363275:p.Ile46Met		49792069	NM_001006939	Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.707554	0.48412	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.55930	0.49;0.49	5.91	-6.67	0.01783	.	0.118224	0.56097	D	0.000040	T	0.63319	0.2501	M	0.76002	2.32	0.42030	D	0.991029	D	0.56521	0.976	P	0.62298	0.9	T	0.71833	-0.4473	9	.	.	.	.	16.6063	0.84830	0.2236:0.0929:0.6835:0.0	.	46	Q8N456	LRC18_HUMAN	M	46	ENSP00000363275:I46M;ENSP00000298124:I46M	.	I	-	3	3	LRRC18	49792069	1.000000	0.71417	0.020000	0.16555	0.494000	0.33585	1.326000	0.33735	-1.188000	0.02705	-0.280000	0.10049	ATT		0.507	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939	
SGMS1	259230	broad.mit.edu	37	10	52066985	52066985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:52066985G>A	ENST00000361781.2	-	11	2118	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	393					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTAAGATCGAGGTACAATT	0.493																																					p.R387X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1159T	10						.						123.0	107.0	112.0					10																	52066985		2203	4300	6503	51736991	SO:0001587	stop_gained	259230	exon11			AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.1159C>T	10.37:g.52066985G>A	ENSP00000354829:p.Arg387*		51736991	NM_147156	Q68U43|Q6EKK0|Q75SP1	Nonsense_Mutation	SNP	ENST00000361781.2	37	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427336	0.43122	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	.	.	.	5.58	4.68	0.58851	.	0.065062	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-9.5426	8.6492	0.34025	0.1716:0.0:0.8284:0.0	.	.	.	.	X	187;387;218	.	ENSP00000354829:R387X	R	-	1	2	SGMS1	51736991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.287000	0.72671	1.494000	0.48533	0.655000	0.94253	CGA		0.493	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156	
A1CF	29974	broad.mit.edu	37	10	52580383	52580383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:52580383G>A	ENST00000373993.1	-	6	840	c.796C>T	c.(796-798)Cga>Tga	p.R266*	A1CF_ENST00000373997.3_Nonsense_Mutation_p.R266*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R266*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R211*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R274*|A1CF_ENST00000395489.2_Nonsense_Mutation_p.R259*|A1CF_ENST00000374001.2_Nonsense_Mutation_p.R266*|RP11-449O16.2_ENST00000438919.1_RNA			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	266	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.R274*(2)|p.R266*(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GCATAGTCTCGAATTTTCTTC	0.378																																					p.R266X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C796T	10						.						124.0	113.0	117.0					10																	52580383		2203	4300	6503	52250389	SO:0001587	stop_gained	29974	exon9			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.796C>T	10.37:g.52580383G>A	ENSP00000363105:p.Arg266*		52250389	NM_001198818	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Nonsense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	37	6.179060	0.97352	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	.	.	.	5.8	2.73	0.32206	.	0.050677	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3845	0.55325	0.0:0.0:0.4296:0.5704	.	.	.	.	X	266;266;266;274;266;211;249;259	.	ENSP00000282641:R266X	R	-	1	2	A1CF	52250389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.486000	0.35530	0.760000	0.33108	0.655000	0.94253	CGA		0.378	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
A1CF	29974	broad.mit.edu	37	10	52619650	52619650	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:52619650T>G	ENST00000373993.1	-	1	95	c.51A>C	c.(49-51)gaA>gaC	p.E17D	A1CF_ENST00000373997.3_Missense_Mutation_p.E17D|A1CF_ENST00000282641.2_Missense_Mutation_p.E17D|A1CF_ENST00000395495.1_Missense_Mutation_p.E17D|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.2_Missense_Mutation_p.E17D			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	17					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.E17D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAGGGCTGCTTCCTTCTGAG	0.483																																					p.E17D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A51C	10						.						108.0	96.0	100.0					10																	52619650		2203	4300	6503	52289656	SO:0001583	missense	29974	exon4			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.51A>C	10.37:g.52619650T>G	ENSP00000363105:p.Glu17Asp		52289656	NM_001198818	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.455681	0.63401	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000282641;ENST00000395495;ENST00000414883	T;T;T;T;T;T	0.22336	2.48;2.48;2.48;2.48;2.62;1.96	5.83	5.83	0.93111	.	.	.	.	.	T	0.50837	0.1639	M	0.85945	2.785	0.80722	D	1	B;D	0.71674	0.236;0.998	B;D	0.77557	0.046;0.99	T	0.57406	-0.7817	9	0.72032	D	0.01	.	14.1648	0.65469	0.0:0.0:0.0:1.0	.	17;17	Q9NQ94;Q9NQ94-2	A1CF_HUMAN;.	D	17	ENSP00000363113:E17D;ENSP00000363105:E17D;ENSP00000363109:E17D;ENSP00000282641:E17D;ENSP00000378873:E17D;ENSP00000397953:E17D	ENSP00000282641:E17D	E	-	3	2	A1CF	52289656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.140000	0.64807	2.236000	0.73375	0.533000	0.62120	GAA		0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
PCDH15	65217	broad.mit.edu	37	10	55591175	55591175	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:55591175C>T	ENST00000320301.6	-	30	4496	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	PCDH15_ENST00000395445.1_Missense_Mutation_p.E1375K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1297K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1375K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1331K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E979K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1368K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1373K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1368K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1368K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1346K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1368					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.E1368K(1)|p.E1373K(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTAGACTTTCTCCTCTCTTT	0.483										HNSCC(58;0.16)																											p.E1331K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3991A	10						.						265.0	226.0	239.0					10																	55591175		2203	4300	6503	55261181	SO:0001583	missense	65217	exon29			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4102G>A	10.37:g.55591175C>T	ENSP00000322604:p.Glu1368Lys		55261181	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492828	0.84962	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.57595	0.47;0.51;0.45;0.45;0.42;0.42;0.39;0.44;0.4;0.4;0.4	5.75	4.83	0.62350	.	.	.	.	.	T	0.35740	0.0942	N	0.08118	0	0.47994	D	0.999567	B;B;B;B;P;B;B;B;B;B;B;B;B	0.42203	0.413;0.382;0.382;0.215;0.773;0.382;0.413;0.019;0.06;0.06;0.06;0.382;0.382	B;B;B;B;B;B;B;B;B;B;B;B;B	0.41466	0.265;0.146;0.146;0.101;0.358;0.146;0.265;0.045;0.065;0.065;0.065;0.146;0.146	T	0.40478	-0.9561	9	0.72032	D	0.01	.	12.881	0.58017	0.0:0.625:0.375:0.0	.	1346;1368;1368;1373;1297;1331;1368;1368;1375;1375;1368;1373;1368	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1375;1373;1368;1368;979;1375;1331;1368;1346;1368;1368;1373;1297	ENSP00000363076:E1375K;ENSP00000410304:E1373K;ENSP00000378826:E1368K;ENSP00000386693:E979K;ENSP00000378832:E1375K;ENSP00000378820:E1331K;ENSP00000354950:E1368K;ENSP00000378821:E1346K;ENSP00000322604:E1368K;ENSP00000378818:E1368K;ENSP00000412628:E1297K	ENSP00000322604:E1368K	E	-	1	0	PCDH15	55261181	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.231000	0.78106	2.709000	0.92574	0.585000	0.79938	GAA		0.483	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55826640	55826640	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:55826640T>C	ENST00000320301.6	-	18	2491	c.2097A>G	c.(2095-2097)tcA>tcG	p.S699S	PCDH15_ENST00000395445.1_Silent_p.S706S|PCDH15_ENST00000437009.1_Silent_p.S628S|PCDH15_ENST00000373957.3_Silent_p.S677S|PCDH15_ENST00000373965.2_Silent_p.S706S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.S662S|PCDH15_ENST00000409834.1_Silent_p.S310S|PCDH15_ENST00000373955.1_Silent_p.S699S|PCDH15_ENST00000395430.1_Silent_p.S699S|PCDH15_ENST00000414778.1_Silent_p.S704S|PCDH15_ENST00000395438.1_Silent_p.S699S|PCDH15_ENST00000361849.3_Silent_p.S699S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.S677S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	699	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S704S(1)|p.S699S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGGCAGTTGAGGTCTTAA	0.368										HNSCC(58;0.16)																											p.S662S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1986G	10						.						79.0	75.0	76.0					10																	55826640		2203	4300	6503	55496646	SO:0001819	synonymous_variant	65217	exon17			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2097A>G	10.37:g.55826640T>C			55496646	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	56077173	56077173	+	Missense_Mutation	SNP	C	C	T	rs562377533	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:56077173C>T	ENST00000320301.6	-	8	1128	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	PCDH15_ENST00000395445.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.R223Q|PCDH15_ENST00000373965.2_Missense_Mutation_p.R245Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R208Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R250Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R245Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R223Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	245	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R250Q(1)|p.R245Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTGGTGGTTCGCCTCTCATT	0.478										HNSCC(58;0.16)			c|||	2	0.000399361	0.0015	0.0	5008	,	,		16800	0.0		0.0	False		,,,				2504	0.0				p.R208Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G623A	10						.						172.0	131.0	145.0					10																	56077173		2203	4300	6503	55747179	SO:0001583	missense	65217	exon7			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.734G>A	10.37:g.56077173C>T	ENSP00000322604:p.Arg245Gln		55747179	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274973	0.40194	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.36;0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68632	0.3022	L	0.55103	1.725	0.28773	N	0.900257	D;D;D;D;D;D;D;D;D;D;D;P;P;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0;0.949;0.858;0.992;1.0	D;D;D;D;D;D;D;D;D;D;D;B;P;P;D	0.87578	0.998;0.992;0.989;0.986;0.979;0.97;0.998;0.974;0.986;0.986;0.974;0.44;0.559;0.783;0.986	T	0.62553	-0.6830	9	0.31617	T	0.26	.	17.7447	0.88416	0.0:1.0:0.0:0.0	.	223;245;245;250;245;208;245;245;245;245;245;250;245;223;245	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	245;250;245;245;245;245;245;245;208;245;223;223;245;245;250;245;245	ENSP00000363076:R245Q;ENSP00000410304:R250Q;ENSP00000378826:R245Q;ENSP00000378832:R245Q;ENSP00000378833:R245Q;ENSP00000378829:R245Q;ENSP00000378827:R245Q;ENSP00000378820:R208Q;ENSP00000354950:R245Q;ENSP00000378821:R223Q;ENSP00000363068:R223Q;ENSP00000322604:R245Q;ENSP00000378818:R245Q;ENSP00000412628:R245Q;ENSP00000363066:R245Q	ENSP00000322604:R245Q	R	-	2	0	PCDH15	55747179	0.952000	0.32445	0.996000	0.52242	0.128000	0.20619	2.286000	0.43496	2.346000	0.79739	0.557000	0.71058	CGA		0.478	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
BICC1	80114	broad.mit.edu	37	10	60560686	60560686	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:60560686G>A	ENST00000373886.3	+	14	1899	c.1895G>A	c.(1894-1896)cGa>cAa	p.R632Q	BICC1_ENST00000263103.1_Missense_Mutation_p.R258Q	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	632					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R632Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGCATGCCTCGAAGTCCTTCC	0.438																																					p.R632Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1895A	10						.						177.0	166.0	170.0					10																	60560686		2203	4300	6503	60230692	SO:0001583	missense	80114	exon14			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1895G>A	10.37:g.60560686G>A	ENSP00000362993:p.Arg632Gln		60230692	NM_001080512		Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	36	5.767825	0.96914	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.57752	1.46;0.38	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	M	0.65498	2.005	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.978	T	0.72724	-0.4207	10	0.66056	D	0.02	-8.9514	20.5792	0.99380	0.0:0.0:1.0:0.0	.	552;632	E7EU62;Q9H694	.;BICC1_HUMAN	Q	632;258	ENSP00000362993:R632Q;ENSP00000263103:R258Q	ENSP00000263103:R258Q	R	+	2	0	BICC1	60230692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.873000	0.98535	0.561000	0.74099	CGA		0.438	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	
PHYHIPL	84457	broad.mit.edu	37	10	60998464	60998464	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:60998464C>T	ENST00000373880.4	+	4	859	c.595C>T	c.(595-597)Cga>Tga	p.R199*	PHYHIPL_ENST00000373878.3_Splice_Site_p.R173*|PHYHIPL_ENST00000472199.1_3'UTR	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	199						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.R199*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TGACTATGTTCGGTAAGATTC	0.328																																					p.R173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C517T	10						.						114.0	118.0	116.0					10																	60998464		2203	4299	6502	60668470	SO:0001630	splice_region_variant	84457	exon4			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.596+1C>T	10.37:g.60998464C>T			60668470	NM_001143774	B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Nonsense_Mutation	SNP	ENST00000373880.4	37	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	C	38	6.707360	0.97780	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	.	.	.	5.68	3.52	0.40303	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.8819	13.7949	0.63164	0.4664:0.5336:0.0:0.0	.	.	.	.	X	199;173	.	ENSP00000362985:R173X	R	+	1	2	PHYHIPL	60668470	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.441000	0.44864	1.159000	0.42565	0.650000	0.86243	CGA		0.328	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439	Nonsense_Mutation
SLC16A9	220963	broad.mit.edu	37	10	61414127	61414127	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:61414127C>A	ENST00000395348.3	-	5	1293	c.657G>T	c.(655-657)aaG>aaT	p.K219N	SLC16A9_ENST00000395347.1_Missense_Mutation_p.K219N	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	219					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.K219N(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CTTCCAGATTCTTTCCTTTTT	0.393																																					p.K219N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G657T	10						.						173.0	171.0	172.0					10																	61414127		2203	4300	6503	61084133	SO:0001583	missense	220963	exon5			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.657G>T	10.37:g.61414127C>A	ENSP00000378757:p.Lys219Asn		61084133	NM_194298	Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	C	5.368	0.253096	0.10185	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.04862	3.54;3.54	5.02	3.1	0.35709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.378225	0.27567	N	0.018789	T	0.05823	0.0152	L	0.47716	1.5	0.35899	D	0.830264	B	0.10296	0.003	B	0.12156	0.007	T	0.30592	-0.9973	10	0.20519	T	0.43	.	6.4219	0.21748	0.1474:0.6995:0.0:0.1532	.	219	Q7RTY1	MOT9_HUMAN	N	219	ENSP00000378757:K219N;ENSP00000378756:K219N	ENSP00000378756:K219N	K	-	3	2	SLC16A9	61084133	0.994000	0.37717	0.630000	0.29268	0.244000	0.25665	2.679000	0.46909	0.475000	0.27415	0.591000	0.81541	AAG		0.393	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298	
ANK3	288	broad.mit.edu	37	10	61832027	61832027	+	Missense_Mutation	SNP	G	G	A	rs201118487		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:61832027G>A	ENST00000280772.2	-	37	8803	c.8612C>T	c.(8611-8613)tCg>tTg	p.S2871L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2871					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.S2871L(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						AAGTACATGCGAAAGTTTTTC	0.398																																					p.S2871L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8612T	10						.	G	LEU/SER,,,	0,4406		0,0,2203	81.0	85.0	84.0		8612,,,	5.7	1.0	10		84	2,8596	2.2+/-6.3	0,2,4297	no	missense,intron,intron,intron	ANK3	NM_020987.3,NM_001149.3,NM_001204403.1,NM_001204404.1	145,,,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,,,	2871/4378,,,	61832027	2,13002	2203	4299	6502	61502033	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.8612C>T	10.37:g.61832027G>A	ENSP00000280772:p.Ser2871Leu		61502033	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825644	0.71143	0.0	2.33E-4	ENSG00000151150	ENST00000280772	T	0.66638	-0.22	5.73	5.73	0.89815	.	0.000000	0.38663	N	0.001602	T	0.51975	0.1706	N	0.19112	0.55	0.80722	D	1	P	0.43662	0.814	B	0.32583	0.148	T	0.60831	-0.7185	10	0.66056	D	0.02	.	19.8881	0.96917	0.0:0.0:1.0:0.0	.	2871	Q12955	ANK3_HUMAN	L	2871	ENSP00000280772:S2871L	ENSP00000280772:S2871L	S	-	2	0	ANK3	61502033	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	4.410000	0.59774	2.708000	0.92522	0.555000	0.69702	TCG		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ANK3	288	broad.mit.edu	37	10	61832287	61832287	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:61832287A>C	ENST00000280772.2	-	37	8543	c.8352T>G	c.(8350-8352)ttT>ttG	p.F2784L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2784					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.F2784L(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						TTAATACCATAAAATCTTTTT	0.383																																					p.F2784L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8352G	10						.						73.0	74.0	73.0					10																	61832287		2203	4300	6503	61502293	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.8352T>G	10.37:g.61832287A>C	ENSP00000280772:p.Phe2784Leu		61502293	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	8.948	0.967447	0.18659	.	.	ENSG00000151150	ENST00000280772	T	0.61510	0.1	5.6	-11.2	0.00127	.	1.606180	0.04380	N	0.360662	T	0.21761	0.0524	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05289	-1.0894	10	0.10636	T	0.68	.	3.9476	0.09355	0.2816:0.3405:0.294:0.0839	.	2784	Q12955	ANK3_HUMAN	L	2784	ENSP00000280772:F2784L	ENSP00000280772:F2784L	F	-	3	2	ANK3	61502293	0.000000	0.05858	0.000000	0.03702	0.866000	0.49608	-0.521000	0.06245	-1.845000	0.01176	-1.161000	0.01788	TTT		0.383	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ANK3	288	broad.mit.edu	37	10	61834658	61834658	+	Missense_Mutation	SNP	G	G	A	rs141251507	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:61834658G>A	ENST00000280772.2	-	37	6172	c.5981C>T	c.(5980-5982)tCg>tTg	p.S1994L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1994					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.S1994L(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						GATTTCTTCCGAACTAAATTC	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		18523	0.0		0.0	False		,,,				2504	0.002				p.S1994L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5981T	10						.	G	,,,LEU/SER	0,4406		0,0,2203	69.0	71.0	70.0		,,,5981	5.0	0.7	10	dbSNP_134	70	5,8595	4.3+/-15.6	0,5,4295	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,145	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,,,benign	,,,1994/4378	61834658	5,13001	2203	4300	6503	61504664	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.5981C>T	10.37:g.61834658G>A	ENSP00000280772:p.Ser1994Leu		61504664	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212399	0.39102	0.0	5.81E-4	ENSG00000151150	ENST00000280772	T	0.60171	0.21	5.93	5.03	0.67393	.	0.435343	0.17017	N	0.190276	T	0.46268	0.1384	L	0.36672	1.1	0.80722	D	1	B	0.28605	0.217	B	0.22152	0.038	T	0.45833	-0.9234	10	0.62326	D	0.03	.	10.2149	0.43162	0.0678:0.0:0.7974:0.1347	.	1994	Q12955	ANK3_HUMAN	L	1994	ENSP00000280772:S1994L	ENSP00000280772:S1994L	S	-	2	0	ANK3	61504664	0.948000	0.32251	0.729000	0.30791	0.767000	0.43475	1.757000	0.38400	1.534000	0.49203	-0.122000	0.15005	TCG		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
TMEM26	219623	broad.mit.edu	37	10	63170302	63170302	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:63170302G>A	ENST00000399298.3	-	6	1253	c.885C>T	c.(883-885)ctC>ctT	p.L295L	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	295						integral component of membrane (GO:0016021)		p.L295L(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					ACACCACCACGAGGAAGTTCT	0.507																																					p.L295L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C885T	10						.						112.0	115.0	114.0					10																	63170302		2103	4224	6327	62840308	SO:0001819	synonymous_variant	219623	exon6			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.885C>T	10.37:g.63170302G>A			62840308	NM_178505	Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	CCDS41530.1																																																																																				0.507	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505	
JMJD1C	221037	broad.mit.edu	37	10	64974016	64974016	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:64974016T>G	ENST00000399262.2	-	8	2129	c.1911A>C	c.(1909-1911)aaA>aaC	p.K637N	JMJD1C_ENST00000402544.1_Missense_Mutation_p.K418N|JMJD1C_ENST00000399251.1_Missense_Mutation_p.K418N|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K455N|JMJD1C_ENST00000489372.2_5'Flank	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	637					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.K637N(1)|p.K418N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATGGGCTGGATTTTATCTTGT	0.393																																					p.K418N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1254C	10						.						131.0	118.0	122.0					10																	64974016		1851	4102	5953	64644022	SO:0001583	missense	221037	exon5			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1911A>C	10.37:g.64974016T>G	ENSP00000382204:p.Lys637Asn		64644022	NM_004241	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732055	0.48939	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.11	4.97	0.65823	.	0.094800	0.64402	D	0.000001	T	0.64516	0.2605	L	0.57536	1.79	0.45791	D	0.998679	D;D	0.89917	1.0;0.999	D;D	0.80764	0.986;0.994	T	0.65849	-0.6068	10	0.72032	D	0.01	-15.3747	6.6882	0.23156	0.0:0.2698:0.0:0.7302	.	637;455	Q15652;A0T124	JHD2C_HUMAN;.	N	637;418;418;455	ENSP00000382204:K637N;ENSP00000384990:K418N;ENSP00000382195:K418N;ENSP00000444682:K455N	ENSP00000382195:K418N	K	-	3	2	JMJD1C	64644022	0.998000	0.40836	0.986000	0.45419	0.867000	0.49689	1.415000	0.34748	1.123000	0.41961	0.533000	0.62120	AAA		0.393	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
JMJD1C	221037	broad.mit.edu	37	10	64979734	64979734	+	Missense_Mutation	SNP	C	C	T	rs192996860		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:64979734C>T	ENST00000399262.2	-	4	675	c.457G>A	c.(457-459)Gac>Aac	p.D153N	JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_5'UTR|JMJD1C_ENST00000489372.2_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	153					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.D153N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTAGGCTGTCTATGTCGTCC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17261	0.001		0.0	False		,,,				2504	0.0				p.D153N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G457A	10						.						126.0	119.0	121.0					10																	64979734		1875	4099	5974	64649740	SO:0001583	missense	221037	exon4			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.457G>A	10.37:g.64979734C>T	ENSP00000382204:p.Asp153Asn		64649740	NM_032776	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.9	5.044825	0.93685	.	.	ENSG00000171988	ENST00000399262	T	0.49432	0.78	5.25	5.25	0.73442	.	0.000000	0.64402	U	0.000002	T	0.49133	0.1539	L	0.34521	1.04	0.80722	D	1	P	0.52577	0.954	P	0.50659	0.647	T	0.36040	-0.9764	10	0.28530	T	0.3	-2.6777	18.8396	0.92177	0.0:1.0:0.0:0.0	.	153	Q15652	JHD2C_HUMAN	N	153	ENSP00000382204:D153N	ENSP00000382204:D153N	D	-	1	0	JMJD1C	64649740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.680000	0.84062	2.452000	0.82932	0.460000	0.39030	GAC		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
CTNNA3	29119	broad.mit.edu	37	10	68040273	68040273	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:68040273G>T	ENST00000433211.2	-	13	2013	c.1839C>A	c.(1837-1839)atC>atA	p.I613I	CTNNA3_ENST00000373744.4_Silent_p.I613I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.I613I(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						TTGTATCATAGATCTTCTTTG	0.353																																					p.I613I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1839A	10						.						176.0	167.0	170.0					10																	68040273		2203	4300	6503	67710279	SO:0001819	synonymous_variant	29119	exon13			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.1839C>A	10.37:g.68040273G>T			67710279	NM_013266		Silent	SNP	ENST00000433211.2	37	CCDS7269.1																																																																																				0.353	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
MYPN	84665	broad.mit.edu	37	10	69959306	69959306	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:69959306C>A	ENST00000358913.5	+	17	3955	c.3467C>A	c.(3466-3468)tCt>tAt	p.S1156Y	MYPN_ENST00000354393.2_Missense_Mutation_p.S881Y|MYPN_ENST00000540630.1_Missense_Mutation_p.S1156Y	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1156	Ig-like 4.|Interaction with ACTN.				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.S1156Y(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						GGGCAGAATTCTTTTAGTCTG	0.527																																					p.S1156Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3467A	10						.						117.0	103.0	108.0					10																	69959306		2203	4300	6503	69629312	SO:0001583	missense	84665	exon17			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.3467C>A	10.37:g.69959306C>A	ENSP00000351790:p.Ser1156Tyr		69629312	NM_032578	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932313	0.92389	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.69040	-0.37;-0.37;-0.37	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.80251	-0.1460	9	.	.	.	.	19.3311	0.94288	0.0:1.0:0.0:0.0	.	1156;881;1156	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	Y	881;881;1156;1156	ENSP00000346369:S881Y;ENSP00000351790:S1156Y;ENSP00000441668:S1156Y	.	S	+	2	0	MYPN	69629312	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.595000	0.82710	2.813000	0.96785	0.655000	0.94253	TCT		0.527	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578	
CCAR1	55749	broad.mit.edu	37	10	70508916	70508916	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:70508916C>T	ENST00000265872.6	+	9	969	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	CCAR1_ENST00000535016.1_Missense_Mutation_p.R269C|CCAR1_ENST00000543719.1_Missense_Mutation_p.R269C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	284					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.R284C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCCTCCTGTTCGTATAGTTTC	0.408																																					p.R284C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C850T	10						.						65.0	66.0	66.0					10																	70508916		2203	4300	6503	70178922	SO:0001583	missense	55749	exon9			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.850C>T	10.37:g.70508916C>T	ENSP00000265872:p.Arg284Cys		70178922	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.823221	0.71143	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.30714	1.52;1.74;1.74;1.73;1.77;1.74	5.43	5.43	0.79202	.	0.052549	0.85682	D	0.000000	T	0.51736	0.1692	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.99;0.996	T	0.51196	-0.8736	10	0.66056	D	0.02	-9.1222	19.2324	0.93845	0.0:1.0:0.0:0.0	.	269;284;258	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	C	284;269;269;269;258;89	ENSP00000265872:R284C;ENSP00000441820:R269C;ENSP00000445254:R269C;ENSP00000439252:R269C;ENSP00000438610:R258C;ENSP00000439642:R89C	ENSP00000265872:R284C	R	+	1	0	CCAR1	70178922	0.999000	0.42202	0.998000	0.56505	0.999000	0.98932	4.141000	0.58038	2.524000	0.85096	0.650000	0.86243	CGT		0.408	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
CCAR1	55749	broad.mit.edu	37	10	70509018	70509018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:70509018C>T	ENST00000265872.6	+	9	1071	c.952C>T	c.(952-954)Cga>Tga	p.R318*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R303*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R303*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	318	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.R318*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AAAAGATGATCGAAGGTATAT	0.393																																					p.R318X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C952T	10						.						49.0	49.0	49.0					10																	70509018		2203	4300	6503	70179024	SO:0001587	stop_gained	55749	exon9			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.952C>T	10.37:g.70509018C>T	ENSP00000265872:p.Arg318*		70179024	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	38	6.724702	0.97792	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	.	.	.	5.61	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1525	11.1807	0.48627	0.4043:0.5957:0.0:0.0	.	.	.	.	X	318;303;303;303;292;123	.	ENSP00000265872:R318X	R	+	1	2	CCAR1	70179024	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	3.519000	0.53458	2.626000	0.88956	0.650000	0.86243	CGA		0.393	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
STOX1	219736	broad.mit.edu	37	10	70645939	70645939	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:70645939G>T	ENST00000298596.6	+	3	2470	c.2387G>T	c.(2386-2388)aGa>aTa	p.R796I	STOX1_ENST00000399169.4_Missense_Mutation_p.R796I|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R686I|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	796						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R796I(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTGCTTAAAAGAAATGAATGC	0.473																																					p.R796I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2387T	10						.						80.0	82.0	82.0					10																	70645939		1890	4121	6011	70315945	SO:0001583	missense	219736	exon3			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2387G>T	10.37:g.70645939G>T	ENSP00000298596:p.Arg796Ile		70315945	NM_152709	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423438	0.25639	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.67345	-0.26;-0.26;-0.26	6.17	0.0539	0.14308	.	0.864159	0.10661	N	0.648692	T	0.50377	0.1612	L	0.34521	1.04	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.38001	-0.9681	10	0.49607	T	0.09	.	5.3492	0.16026	0.3996:0.0:0.4746:0.1258	.	796	Q6ZVD7	STOX1_HUMAN	I	796;796;686	ENSP00000382121:R796I;ENSP00000298596:R796I;ENSP00000394509:R686I	ENSP00000298596:R796I	R	+	2	0	STOX1	70315945	0.000000	0.05858	0.001000	0.08648	0.467000	0.32768	0.023000	0.13533	-0.231000	0.09825	-0.181000	0.13052	AGA		0.473	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709	
HKDC1	80201	broad.mit.edu	37	10	71017135	71017135	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:71017135T>C	ENST00000354624.5	+	14	2118	c.1985T>C	c.(1984-1986)aTg>aCg	p.M662T	HKDC1_ENST00000395086.2_Missense_Mutation_p.M662T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	662	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.M662T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGACCATGATGACCTGTGGC	0.438																																					p.M662T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1985C	10						.						250.0	210.0	224.0					10																	71017135		2203	4300	6503	70687141	SO:0001583	missense	80201	exon14				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1985T>C	10.37:g.71017135T>C	ENSP00000346643:p.Met662Thr		70687141	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	.	18.24	3.580964	0.65992	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98550	-4.99;-4.99	4.93	3.77	0.43336	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	H	0.96805	3.885	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.98903	1.0777	10	0.87932	D	0	-31.5428	10.9626	0.47393	0.1402:0.0:0.0:0.8598	.	662	Q2TB90	HKDC1_HUMAN	T	662	ENSP00000346643:M662T;ENSP00000378521:M662T	ENSP00000346643:M662T	M	+	2	0	HKDC1	70687141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.829000	0.86735	0.865000	0.35603	0.454000	0.30748	ATG		0.438	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
HK1	3098	broad.mit.edu	37	10	71055406	71055406	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:71055406A>G	ENST00000448642.2	+	6	527	c.138A>G	c.(136-138)aaA>aaG	p.K46K	HK1_ENST00000404387.2_Silent_p.K15K|HK1_ENST00000360289.2_5'UTR			P19367	HXK1_HUMAN	hexokinase 1	0	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.K15K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CAGCTGAAAAACCAAAACTTC	0.338																																					p.K15K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A45G	10						.						138.0	123.0	128.0					10																	71055406		2203	4300	6503	70725412	SO:0001819	synonymous_variant	3098	exon4			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000448642.2:c.138A>G	10.37:g.71055406A>G			70725412	NM_033498	E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000448642.2	37																																																																																					0.338	HK1-204	KNOWN	basic	protein_coding	protein_coding		NM_000188	
H2AFY2	55506	broad.mit.edu	37	10	71868825	71868825	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:71868825T>G	ENST00000373255.4	+	8	1079	c.815T>G	c.(814-816)tTt>tGt	p.F272C	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	272	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)	p.F272C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GCAGCCAAATTTGTCATCCAC	0.517																																					p.F272C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T815G	10						.						98.0	97.0	98.0					10																	71868825		2203	4300	6503	71538831	SO:0001583	missense	55506	exon8			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.815T>G	10.37:g.71868825T>G	ENSP00000362352:p.Phe272Cys		71538831	NM_018649	Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030664	0.75504	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.22539	1.95;1.95	5.97	5.97	0.96955	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.49123	-0.8972	10	0.87932	D	0	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	272	Q9P0M6	H2AW_HUMAN	C	272;206;206	ENSP00000362352:F272C;ENSP00000404584:F206C	ENSP00000362352:F272C	F	+	2	0	H2AFY2	71538831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.040000	0.57333	2.288000	0.76882	0.533000	0.62120	TTT		0.517	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649	
ADAMTS14	140766	broad.mit.edu	37	10	72513721	72513721	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:72513721A>G	ENST00000373207.1	+	19	2895	c.2895A>G	c.(2893-2895)cgA>cgG	p.R965R	ADAMTS14_ENST00000373208.1_Silent_p.R968R	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	965	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R968R(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGTCTCCGAGTGCCCTGCC	0.672																																					p.R965R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2895G	10						.						9.0	9.0	9.0					10																	72513721		2173	4266	6439	72183727	SO:0001819	synonymous_variant	140766	exon19			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2895A>G	10.37:g.72513721A>G			72183727	NM_080722	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																				0.672	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
P4HA1	5033	broad.mit.edu	37	10	74806707	74806707	+	Silent	SNP	G	G	A	rs199872874		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:74806707G>A	ENST00000307116.2	-	8	1169	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	P4HA1_ENST00000373008.2_Silent_p.I351I|P4HA1_ENST00000440381.1_Silent_p.I351I|P4HA1_ENST00000412021.2_Silent_p.I351I|P4HA1_ENST00000394890.2_Silent_p.I351I|P4HA1_ENST00000263556.3_Silent_p.I351I			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	351					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.I351I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTCTTTGACGATTTCAATTT	0.333																																					p.I351I	Colon(147;367 2405 2662 52127)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1053T	10						.						110.0	110.0	110.0					10																	74806707		2203	4300	6503	74476713	SO:0001819	synonymous_variant	5033	exon9				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1053C>T	10.37:g.74806707G>A			74476713	NM_001142595	C9JL12|Q15082|Q15083|Q5VSQ5	Silent	SNP	ENST00000307116.2	37																																																																																					0.333	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917	
ECD	11319	broad.mit.edu	37	10	74897789	74897789	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:74897789A>C	ENST00000372979.4	-	12	1667	c.1461T>G	c.(1459-1461)tcT>tcG	p.S487S	ECD_ENST00000454759.2_Silent_p.S444S|ECD_ENST00000430082.2_Silent_p.S520S	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	487					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.S487S(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)					AATTAAGAAAAGAATCTGCAT	0.313																																					p.S444S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1332G	10						.						65.0	62.0	63.0					10																	74897789		2202	4300	6502	74567795	SO:0001819	synonymous_variant	11319	exon11			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.1461T>G	10.37:g.74897789A>C			74567795	NM_001135753	C9JX46|E9PAW8	Silent	SNP	ENST00000372979.4	37	CCDS7321.1																																																																																				0.313	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265	
CFAP70	118491	broad.mit.edu	37	10	75037098	75037098	+	Nonsense_Mutation	SNP	G	G	T	rs551423264		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:75037098G>T	ENST00000310715.3	-	22	2750	c.2630C>A	c.(2629-2631)tCa>tAa	p.S877*	TTC18_ENST00000340329.3_Intron|RNU6-833P_ENST00000363486.1_RNA|TTC18_ENST00000394865.1_Nonsense_Mutation_p.S877*|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Nonsense_Mutation_p.S346*|TTC18_ENST00000401621.2_Nonsense_Mutation_p.S877*|DNAJC9-AS1_ENST00000440197.2_RNA	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		877						extracellular vesicular exosome (GO:0070062)		p.S877*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAGAGCTGATGAATCTTGACA	0.388																																					p.S877X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2630A	10						.						104.0	102.0	103.0					10																	75037098		2203	4300	6503	74707104	SO:0001587	stop_gained	118491	exon22																														ENST00000310715.3:c.2630C>A	10.37:g.75037098G>T	ENSP00000310829:p.Ser877*		74707104	NM_145170	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Nonsense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	34	5.376694	0.95945	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	.	.	.	5.62	4.72	0.59763	.	0.732918	0.12652	N	0.450367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2738	10.6693	0.45749	0.0881:0.0:0.9119:0.0	.	.	.	.	X	877;877;877;284;877	.	ENSP00000310829:S877X	S	-	2	0	TTC18	74707104	0.991000	0.36638	0.300000	0.25030	0.390000	0.30446	3.275000	0.51639	1.373000	0.46208	-0.150000	0.13652	TCA		0.388	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
SYNPO2L	79933	broad.mit.edu	37	10	75408607	75408607	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:75408607T>G	ENST00000394810.2	-	4	952	c.803A>C	c.(802-804)aAg>aCg	p.K268T	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.K44T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	268						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.K44T(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TTTTATGCTCTTCTCTTGGAG	0.532																																					p.K44T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A131C	10						.						53.0	43.0	46.0					10																	75408607		2203	4300	6503	75078613	SO:0001583	missense	79933	exon2			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.803A>C	10.37:g.75408607T>G	ENSP00000378289:p.Lys268Thr		75078613	NM_024875	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298386	0.40694	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.51071	0.72;2.65;2.65	4.65	3.51	0.40186	.	0.057540	0.64402	D	0.000002	T	0.55097	0.1899	L	0.55481	1.735	0.47621	D	0.999475	P;D	0.53151	0.912;0.958	P;P	0.57057	0.47;0.812	T	0.56444	-0.7978	10	0.87932	D	0	-9.0634	9.5223	0.39143	0.0:0.0863:0.0:0.9137	.	268;44	Q9H987;Q9H987-2	SYP2L_HUMAN;.	T	44;268;268	ENSP00000361964:K44T;ENSP00000361963:K268T;ENSP00000378289:K268T	ENSP00000361963:K268T	K	-	2	0	SYNPO2L	75078613	1.000000	0.71417	0.997000	0.53966	0.514000	0.34195	5.014000	0.64029	0.828000	0.34709	0.397000	0.26171	AAG		0.532	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875	
C10orf11	83938	broad.mit.edu	37	10	77795768	77795768	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:77795768C>A	ENST00000372499.1	+	2	265	c.50C>A	c.(49-51)tCa>tAa	p.S17*	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	17					melanocyte differentiation (GO:0030318)			p.S17*(1)		endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CATTGCAGGTCACTGGAAGGA	0.488											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S17X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C50A	10						.						155.0	138.0	144.0					10																	77795768		2203	4300	6503	77465774	SO:0001587	stop_gained	83938	exon2			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.50C>A	10.37:g.77795768C>A	ENSP00000361577:p.Ser17*	1178	77465774	NM_032024	B1AVW6	Nonsense_Mutation	SNP	ENST00000372499.1	37	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	C	37	6.600628	0.97697	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	.	.	.	4.39	4.39	0.52855	.	0.233409	0.37577	N	0.002024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.151	17.848	0.88736	0.0:1.0:0.0:0.0	.	.	.	.	X	45;17	.	ENSP00000346310:S45X	S	+	2	0	C10orf11	77465774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.252000	0.78309	2.382000	0.81193	0.455000	0.32223	TCA		0.488	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024	
KCNMA1	3778	broad.mit.edu	37	10	78647167	78647167	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:78647167A>G	ENST00000286628.8	-	28	3567	c.3568T>C	c.(3568-3570)Tcc>Ccc	p.S1190P	RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S1132P|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S1193P|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S1194P|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S1173P|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S1190P|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S1159P|KCNMA1_ENST00000286627.5_Missense_Mutation_p.S1132P	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1190					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.S1132P(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)	GAGGAATGGGACAGGCTGGCC	0.587																																					p.S1173P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3517C	10						.						83.0	74.0	77.0					10																	78647167		2203	4300	6503	78317173	SO:0001583	missense	3778	exon28			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.3568T>C	10.37:g.78647167A>G	ENSP00000286628:p.Ser1190Pro		78317173	NM_001161353	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.429748|4.429748	0.83776|0.83776	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	D;D;D;D;D;D;D;D;D|.	0.84589|.	-1.85;-1.87;-1.83;-1.84;-1.85;-1.84;-1.84;-1.84;-1.85|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Potassium channel, calcium-activated, BK, alpha subunit (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.38532|0.38532	0.1044|0.1044	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.76494|.	0.991;0.992;0.995;0.999;0.994;0.985;0.999;0.992|.	D;D;D;D;D;D;D;D|.	0.87578|.	0.993;0.985;0.993;0.995;0.987;0.985;0.998;0.985|.	T|T	0.30822|0.30822	-0.9965|-0.9965	10|5	0.72032|.	D|.	0.01|.	-11.8864|-11.8864	14.9081|14.9081	0.70735|0.70735	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1161;1162;1173;1190;1132;943;1193;1159|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	P|A	1132;1069;1125;1164;1127;1159;1132;1164;1194;1193;1173;943|1120;839	ENSP00000361517:S1132P;ENSP00000361485:S1069P;ENSP00000361514:S1125P;ENSP00000396608:S1164P;ENSP00000361520:S1159P;ENSP00000286627:S1132P;ENSP00000385552:S1194P;ENSP00000346321:S1193P;ENSP00000385806:S1173P|.	ENSP00000286627:S1132P|.	S|V	-|-	1|2	0|0	KCNMA1|KCNMA1	78317173|78317173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.730000|8.730000	0.91510|0.91510	1.929000|1.929000	0.55896|0.55896	0.377000|0.377000	0.23210|0.23210	TCC|GTC		0.587	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
KCNMA1	3778	broad.mit.edu	37	10	78844406	78844406	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:78844406C>T	ENST00000286628.8	-	12	1511	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000372440.1_Silent_p.S504S|KCNMA1_ENST00000354353.5_Silent_p.S504S|KCNMA1_ENST00000406533.3_Silent_p.S504S|KCNMA1_ENST00000404857.1_Silent_p.S504S|KCNMA1_ENST00000404771.3_Silent_p.S504S|KCNMA1_ENST00000372443.1_Silent_p.S504S|KCNMA1_ENST00000286627.5_Silent_p.S504S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	504	RCK N-terminal.				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.S504S(3)		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)	TCATGATATTCGAGGCATCCT	0.532																																					p.S504S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G1512A	10						.						76.0	66.0	70.0					10																	78844406		2203	4300	6503	78514412	SO:0001819	synonymous_variant	3778	exon12			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.1512G>A	10.37:g.78844406C>T			78514412	NM_001161353	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.134|9.134	1.012257|1.012257	0.19277|0.19277	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.69|5.69	1.8|1.8	0.24995|0.24995	.|.	.|.	.|.	.|.	.|.	T|T	0.45256|0.45256	0.1333|0.1333	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24119|0.24119	-1.0169|-1.0169	4|4	.|.	.|.	.|.	-13.5492|-13.5492	2.7644|2.7644	0.05316|0.05316	0.2024:0.1307:0.5408:0.1261|0.2024:0.1307:0.5408:0.1261	.|.	.|.	.|.	.|.	K|Q	493;183|455	.|.	.|.	E|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78514412|78514412	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.908000|0.908000	0.53690|0.53690	2.360000|2.360000	0.44151|0.44151	0.081000|0.081000	0.16988|0.16988	-1.356000|-1.356000	0.01223|0.01223	GAA|CGA		0.532	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
DYDC1	143241	broad.mit.edu	37	10	82102057	82102057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:82102057C>A	ENST00000372204.3	-	5	474	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	DYDC1_ENST00000372202.1_Nonsense_Mutation_p.E104*|DYDC1_ENST00000421924.2_Nonsense_Mutation_p.E104*|DYDC2_ENST00000372198.1_5'Flank|DYDC2_ENST00000372199.1_5'Flank|DYDC2_ENST00000372197.1_5'Flank	NM_138812.3	NP_620167.1	Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	104								p.E104*(1)		kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			CTCTGTAGTTCTTGTATTCTC	0.323																																					p.E104X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G310T	10						.						179.0	166.0	170.0					10																	82102057		2203	4300	6503	82092037	SO:0001587	stop_gained	143241	exon5			BC019250	CCDS7366.1	10q22.3	2006-02-01			ENSG00000170788	ENSG00000170788			23460	protein-coding gene	gene with protein product		615154					Standard	NM_138812		Approved	bA36D19.5, DPY30D1	uc031pwj.1	Q8WWB3	OTTHUMG00000018609	ENST00000372204.3:c.310G>T	10.37:g.82102057C>A	ENSP00000361278:p.Glu104*		82092037	NM_138812	A8K927|Q5QP03|Q5QP04|Q6WNP4|Q6ZU87	Nonsense_Mutation	SNP	ENST00000372204.3	37	CCDS7366.1	.	.	.	.	.	.	.	.	.	.	C	38	7.132031	0.98085	.	.	ENSG00000170788	ENST00000372204;ENST00000372202;ENST00000421924;ENST00000454362	.	.	.	4.5	4.5	0.54988	.	0.630671	0.15261	N	0.271779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-11.3375	12.8954	0.58095	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000361276:E104X	E	-	1	0	DYDC1	82092037	0.915000	0.31059	0.499000	0.27577	0.986000	0.74619	3.027000	0.49697	2.486000	0.83907	0.655000	0.94253	GAA		0.323	DYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049059.1	NM_138812	
CCSER2	54462	broad.mit.edu	37	10	86259689	86259689	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:86259689G>A	ENST00000224756.8	+	10	2569	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	CCSER2_ENST00000494144.1_Intron|CCSER2_ENST00000543283.1_Missense_Mutation_p.R222Q|CCSER2_ENST00000372088.2_Intron	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	795					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.R795Q(1)									GGGATCCCACGGACTGTTCCA	0.547																																					p.R795Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2384A	10						.						126.0	111.0	116.0					10																	86259689		2203	4300	6503	86249669	SO:0001583	missense	54462	exon10				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2384G>A	10.37:g.86259689G>A	ENSP00000224756:p.Arg795Gln		86249669	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939941	0.73557	.	.	ENSG00000107771	ENST00000224756;ENST00000543283	T;T	0.33438	1.69;1.41	5.97	5.97	0.96955	.	0.108910	0.40818	N	0.001015	T	0.53899	0.1825	L	0.56769	1.78	0.39404	D	0.966649	D	0.89917	1.0	D	0.81914	0.995	T	0.53041	-0.8494	10	0.66056	D	0.02	.	17.9278	0.88989	0.0:0.0:1.0:0.0	.	795	Q9H7U1	F190B_HUMAN	Q	795;222	ENSP00000224756:R795Q;ENSP00000439944:R222Q	ENSP00000224756:R795Q	R	+	2	0	FAM190B	86249669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.616000	0.83018	2.838000	0.97847	0.561000	0.74099	CGG		0.547	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
GRID1	2894	broad.mit.edu	37	10	87484302	87484302	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:87484302G>A	ENST00000327946.7	-	11	1750	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	GRID1_ENST00000536331.1_Silent_p.F126F	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	555					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.F555F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CAAAGAGGGAGAAGATGCTGA	0.502										Multiple Myeloma(13;0.14)																											p.F555F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1665T	10						.						84.0	77.0	79.0					10																	87484302		2203	4300	6503	87474282	SO:0001819	synonymous_variant	2894	exon11			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1665C>T	10.37:g.87484302G>A			87474282	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
MMRN2	79812	broad.mit.edu	37	10	88703289	88703289	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:88703289C>T	ENST00000372027.5	-	6	1573	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	418					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E418K(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCGTCCGATTCGGAGTACAGT	0.607																																					p.E418K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1252A	10						.						148.0	109.0	122.0					10																	88703289		2203	4300	6503	88693269	SO:0001583	missense	79812	exon6			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1252G>A	10.37:g.88703289C>T	ENSP00000361097:p.Glu418Lys		88693269	NM_024756	Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036804	0.54896	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.71817	-0.6	4.96	4.05	0.47172	.	0.327636	0.26489	N	0.024094	T	0.78181	0.4243	M	0.71581	2.175	0.09310	N	0.999997	D;D;D	0.89917	1.0;1.0;0.998	P;P;P	0.61070	0.883;0.846;0.825	T	0.68100	-0.5498	10	0.38643	T	0.18	-12.5383	9.4373	0.38646	0.1617:0.6823:0.1561:0.0	.	196;357;418	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	K	418;196	ENSP00000361097:E418K	ENSP00000361097:E418K	E	-	1	0	MMRN2	88693269	0.777000	0.28628	0.005000	0.12908	0.668000	0.39293	1.829000	0.39121	1.062000	0.40625	0.462000	0.41574	GAA		0.607	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756	
NUTM2A	728118	broad.mit.edu	37	10	88988154	88988154	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:88988154G>T	ENST00000381707.2	+	2	900	c.517G>T	c.(517-519)Ggc>Tgc	p.G173C	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Missense_Mutation_p.G173C	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	173								p.G173C(1)|p.G100C(1)									GGCTCCTCCAGGCGGCCCTCT	0.677																																					p.G173C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G517T	10						.						41.0	49.0	47.0					10																	88988154		1859	4092	5951	88978134	SO:0001583	missense	728118	exon2				CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.517G>T	10.37:g.88988154G>T	ENSP00000371126:p.Gly173Cys		88978134	NM_001099338	A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	ENST00000381707.2	37	CCDS44452.1	.	.	.	.	.	.	.	.	.	.	g	11.83	1.756006	0.31137	.	.	ENSG00000184923	ENST00000381689;ENST00000381707;ENST00000416901	T;T	0.25912	1.77;1.77	1.29	1.29	0.21616	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.40909	0.1136	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.09773	-1.0659	9	0.87932	D	0	.	6.1361	0.20233	0.0:0.0:1.0:0.0	.	173	Q8IVF1	FA22A_HUMAN	C	173;173;100	ENSP00000371107:G173C;ENSP00000371126:G173C	ENSP00000371107:G173C	G	+	1	0	FAM22A	88978134	0.006000	0.16342	0.018000	0.16275	0.010000	0.07245	0.617000	0.24359	1.081000	0.41110	0.374000	0.22700	GGC		0.677	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338	
CH25H	9023	broad.mit.edu	37	10	90966633	90966633	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:90966633G>T	ENST00000371852.2	-	1	438	c.417C>A	c.(415-417)ttC>ttA	p.F139L		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	139					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.F139L(1)		kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GCCACACGAAGAACTCCATGT	0.632																																					p.F139L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C417A	10						.						80.0	76.0	77.0					10																	90966633		2203	4300	6503	90956613	SO:0001583	missense	9023	exon1			AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"""Fatty acid hydroxylase domain containing"""	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.417C>A	10.37:g.90966633G>T	ENSP00000360918:p.Phe139Leu		90956613	NM_003956	B2RBY3	Missense_Mutation	SNP	ENST00000371852.2	37	CCDS7400.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280816	0.59758	.	.	ENSG00000138135	ENST00000371852	D	0.84442	-1.85	5.3	4.39	0.52855	Fatty acid hydroxylase (1);	0.416858	0.26995	N	0.021456	D	0.83889	0.5352	M	0.68317	2.08	0.35927	D	0.832209	B	0.27932	0.194	B	0.33799	0.17	D	0.84252	0.0478	10	0.34782	T	0.22	-23.8896	11.8069	0.52161	0.1501:0.0:0.8499:0.0	.	139	O95992	CH25H_HUMAN	L	139	ENSP00000360918:F139L	ENSP00000360918:F139L	F	-	3	2	CH25H	90956613	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.927000	0.48900	1.348000	0.45733	0.650000	0.86243	TTC		0.632	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1	NM_003956	
IFIT3	3437	broad.mit.edu	37	10	91098792	91098792	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:91098792T>G	ENST00000371818.4	+	2	560	c.380T>G	c.(379-381)tTt>tGt	p.F127C	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.F127C|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	127					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)	p.F127C(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TGCAAGAAATTTTCAAATCCA	0.428																																					p.F127C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T380G	10						.						58.0	64.0	62.0					10																	91098792		2203	4300	6503	91088772	SO:0001583	missense	3437	exon2			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.380T>G	10.37:g.91098792T>G	ENSP00000360883:p.Phe127Cys		91088772	NM_001549	Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.113547	0.37339	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.76060	-0.99;-0.99	4.71	3.58	0.41010	Tetratricopeptide-like helical (1);	0.517370	0.20951	N	0.082741	D	0.82412	0.5031	M	0.77820	2.39	0.28839	N	0.896712	D	0.76494	0.999	D	0.70935	0.971	T	0.74542	-0.3631	10	0.49607	T	0.09	-6.7118	6.1357	0.20230	0.0:0.0854:0.1632:0.7514	.	127	O14879	IFIT3_HUMAN	C	127	ENSP00000360883:F127C;ENSP00000360876:F127C	ENSP00000360876:F127C	F	+	2	0	IFIT3	91088772	0.998000	0.40836	0.980000	0.43619	0.430000	0.31655	2.191000	0.42640	1.122000	0.41944	0.528000	0.53228	TTT		0.428	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549	
KIF20B	9585	broad.mit.edu	37	10	91479432	91479432	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:91479432A>C	ENST00000371728.3	+	13	1756	c.1691A>C	c.(1690-1692)aAt>aCt	p.N564T	KIF20B_ENST00000260753.4_Missense_Mutation_p.N564T|KIF20B_ENST00000394289.2_Missense_Mutation_p.N564T|KIF20B_ENST00000416354.1_Missense_Mutation_p.N564T	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	564					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.N564T(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						TTAGAGGAAAATAAGGCTTTC	0.348																																					p.N564T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1691C	10						.						39.0	41.0	40.0					10																	91479432		2203	4300	6503	91469412	SO:0001583	missense	9585	exon13			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.1691A>C	10.37:g.91479432A>C	ENSP00000360793:p.Asn564Thr		91469412	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		.	.	.	.	.	.	.	.	.	.	A	8.658	0.899889	0.17686	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.74	1.96	0.26148	.	0.967723	0.08500	N	0.936641	T	0.22360	0.0539	N	0.14661	0.345	0.09310	N	1	B;B	0.26547	0.094;0.152	B;B	0.21917	0.016;0.037	T	0.27938	-1.0059	10	0.13108	T	0.6	-0.0292	6.1731	0.20429	0.5519:0.3063:0.1417:0.0	.	564;564	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	T	564	ENSP00000260753:N564T;ENSP00000411545:N564T;ENSP00000377830:N564T;ENSP00000360793:N564T	ENSP00000260753:N564T	N	+	2	0	KIF20B	91469412	0.012000	0.17670	0.040000	0.18447	0.782000	0.44232	0.542000	0.23222	0.056000	0.16144	0.477000	0.44152	AAT		0.348	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
KIF20B	9585	broad.mit.edu	37	10	91533786	91533786	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:91533786G>A	ENST00000371728.3	+	33	5509	c.5444G>A	c.(5443-5445)cGa>cAa	p.R1815Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.R1775Q|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.R1845Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1815	Interaction with PIN1.				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.R1775Q(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						CGACGACTTCGAACAAAAACA	0.284																																					p.R1775Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5324A	10						.						49.0	53.0	52.0					10																	91533786		2203	4292	6495	91523766	SO:0001583	missense	9585	exon33			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.5444G>A	10.37:g.91533786G>A	ENSP00000360793:p.Arg1815Gln		91523766	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	16.30	3.085165	0.55861	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.59224	0.28;0.28;0.28	6.03	3.2	0.36748	.	0.198132	0.25178	N	0.032545	T	0.69833	0.3155	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.74348	0.978;0.983	T	0.68743	-0.5328	10	0.87932	D	0	-4.7534	8.4725	0.32993	0.24:0.0:0.76:0.0	.	1815;1775	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	1775;1845;1815	ENSP00000260753:R1775Q;ENSP00000411545:R1845Q;ENSP00000360793:R1815Q	ENSP00000260753:R1775Q	R	+	2	0	KIF20B	91523766	1.000000	0.71417	0.827000	0.32855	0.328000	0.28507	3.601000	0.54059	0.449000	0.26747	-0.140000	0.14226	CGA		0.284	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
HTR7	3363	broad.mit.edu	37	10	92617005	92617005	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:92617005C>T	ENST00000336152.3	-	1	450	c.424G>A	c.(424-426)Gac>Aac	p.D142N	HTR7_ENST00000371719.2_Missense_Mutation_p.D142N|HTR7_ENST00000277874.6_Missense_Mutation_p.D142N|HTR7_ENST00000371721.3_Missense_Mutation_p.D142N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	142					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.D142N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCGATGAGGTCGGTGACGCTG	0.597																																					p.D142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	10						.						65.0	57.0	60.0					10																	92617005		2203	4300	6503	92606985	SO:0001583	missense	3363	exon1			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.424G>A	10.37:g.92617005C>T	ENSP00000337949:p.Asp142Asn		92606985	NM_019859	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823844	0.90873	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.62016	1.91	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.61302	-0.7090	10	0.56958	D	0.05	.	18.2215	0.89903	0.0:1.0:0.0:0.0	.	142;142	P34969;P34969-2	5HT7R_HUMAN;.	N	142	ENSP00000337949:D142N;ENSP00000277874:D142N;ENSP00000360784:D142N;ENSP00000360786:D142N	ENSP00000277874:D142N	D	-	1	0	HTR7	92606985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.912000	0.69948	2.309000	0.77851	0.563000	0.77884	GAC		0.597	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
RPP30	10556	broad.mit.edu	37	10	92645587	92645587	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:92645587G>A	ENST00000371703.3	+	6	632	c.361G>A	c.(361-363)Gat>Aat	p.D121N	RPP30_ENST00000413330.1_Missense_Mutation_p.D121N	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	121					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)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.D121N(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						CACACATTTAGATGTGGATTT	0.343																																					p.D121N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	10						.						132.0	123.0	126.0					10																	92645587		2203	4300	6503	92635567	SO:0001583	missense	10556	exon6			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.361G>A	10.37:g.92645587G>A	ENSP00000360768:p.Asp121Asn		92635567	NM_006413	B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047406	0.93740	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.50001	0.76;0.77;0.81	6.03	6.03	0.97812	Polymerase/histidinol phosphatase-like (1);	0.045370	0.85682	D	0.000000	T	0.70482	0.3229	M	0.74389	2.26	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72982	0.979;0.979;0.966	T	0.70956	-0.4731	10	0.66056	D	0.02	-18.69	19.3283	0.94273	0.0:0.0:1.0:0.0	.	121;121;121	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	N	121;121;121;143;75	ENSP00000360768:D121N;ENSP00000389182:D121N;ENSP00000277882:D143N	ENSP00000277882:D143N	D	+	1	0	RPP30	92635567	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.121000	0.77160	2.861000	0.98227	0.655000	0.94253	GAT		0.343	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413	
HECTD2	143279	broad.mit.edu	37	10	93220255	93220255	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:93220255G>A	ENST00000298068.5	+	3	434	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Missense_Mutation_p.E114K|HECTD2_ENST00000446394.1_Missense_Mutation_p.E114K	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	114					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.E114K(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCATCATCCGAAATGAAGGC	0.378																																					p.E114K	NSCLC(12;376 469 1699 39910 41417)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340A	10						.						147.0	131.0	137.0					10																	93220255		2203	4300	6503	93210235	SO:0001583	missense	143279	exon3			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.340G>A	10.37:g.93220255G>A	ENSP00000298068:p.Glu114Lys		93210235	NM_182765	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630193	0.67015	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.55234	1.16;0.53;1.17	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.79108	0.771;0.981;0.992	T	0.72683	-0.4219	10	0.59425	D	0.04	.	18.7406	0.91772	0.0:0.0:1.0:0.0	.	114;114;114	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	K	114	ENSP00000401023:E114K;ENSP00000360746:E114K;ENSP00000298068:E114K	ENSP00000298068:E114K	E	+	1	0	HECTD2	93210235	1.000000	0.71417	0.984000	0.44739	0.060000	0.15804	8.215000	0.89762	2.502000	0.84385	0.563000	0.77884	GAA		0.378	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		
TNKS2	80351	broad.mit.edu	37	10	93615386	93615386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:93615386C>T	ENST00000371627.4	+	23	3308	c.2929C>T	c.(2929-2931)Cga>Tga	p.R977*		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	977	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R977*(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAGTACAGTTCGAGAGCACAG	0.368																																					p.R977X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2929T	10						.						81.0	75.0	77.0					10																	93615386		2203	4300	6503	93605366	SO:0001587	stop_gained	80351	exon23			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2929C>T	10.37:g.93615386C>T	ENSP00000360689:p.Arg977*		93605366	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Nonsense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	44	10.525706	0.99421	.	.	ENSG00000107854	ENST00000371627	.	.	.	5.38	4.47	0.54385	.	0.000000	0.43579	D	0.000542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4405	0.61109	0.2854:0.7146:0.0:0.0	.	.	.	.	X	977	.	ENSP00000360689:R977X	R	+	1	2	TNKS2	93605366	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	2.940000	0.49003	1.385000	0.46445	0.563000	0.77884	CGA		0.368	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
BTAF1	9044	broad.mit.edu	37	10	93753595	93753595	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:93753595A>C	ENST00000265990.6	+	22	3498	c.3190A>C	c.(3190-3192)Aat>Cat	p.N1064H	BTAF1_ENST00000544642.1_5'Flank	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1064					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.N1064H(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)				AATCGACATAAATAATTTTGG	0.318																																					p.N1064H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3190C	10						.						69.0	66.0	67.0					10																	93753595		2203	4300	6503	93743575	SO:0001583	missense	9044	exon22			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.3190A>C	10.37:g.93753595A>C	ENSP00000265990:p.Asn1064His		93743575	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450551	0.26074	.	.	ENSG00000095564	ENST00000265990	D	0.90004	-2.6	5.27	1.3	0.21679	Armadillo-like helical (1);Armadillo-type fold (1);	0.290065	0.39274	N	0.001417	T	0.74711	0.3752	N	0.08118	0	0.80722	D	1	B;B	0.26512	0.151;0.151	B;B	0.27608	0.081;0.081	T	0.64639	-0.6360	10	0.44086	T	0.13	-10.8232	7.6528	0.28358	0.5047:0.423:0.0723:0.0	.	1064;1064	Q2M1V9;O14981	.;BTAF1_HUMAN	H	1064	ENSP00000265990:N1064H	ENSP00000265990:N1064H	N	+	1	0	BTAF1	93743575	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	1.469000	0.35343	0.300000	0.22699	-0.321000	0.08615	AAT		0.318	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
IDE	3416	broad.mit.edu	37	10	94214263	94214263	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:94214263G>A	ENST00000265986.6	-	25	3054	c.2998C>T	c.(2998-3000)Cgt>Tgt	p.R1000C	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R445C	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1000					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.R1000C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GGCAGACCACGCTTGAATTCG	0.398																																					p.R1000C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2998T	10						.						154.0	151.0	152.0					10																	94214263		2203	4300	6503	94204243	SO:0001583	missense	3416	exon25			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2998C>T	10.37:g.94214263G>A	ENSP00000265986:p.Arg1000Cys		94204243	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534141	0.64972	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.33654	1.41;1.4	5.9	5.9	0.94986	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.59288	0.855;0.855	T	0.54918	-0.8221	10	0.66056	D	0.02	-11.119	15.0443	0.71816	0.0:0.0:0.858:0.142	.	1000;445	P14735;B3KSB8	IDE_HUMAN;.	C	1000;445	ENSP00000265986:R1000C;ENSP00000360637:R445C	ENSP00000265986:R1000C	R	-	1	0	IDE	94204243	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.506000	0.60428	2.788000	0.95919	0.650000	0.86243	CGT		0.398	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
IDE	3416	broad.mit.edu	37	10	94268597	94268597	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:94268597T>C	ENST00000265986.6	-	7	1004	c.948A>G	c.(946-948)acA>acG	p.T316T		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	316					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.T316T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GTATGGGAAATGTCACATAGA	0.373																																					p.T316T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A948G	10						.						144.0	147.0	146.0					10																	94268597		2203	4300	6503	94258577	SO:0001819	synonymous_variant	3416	exon7			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.948A>G	10.37:g.94268597T>C			94258577	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	CCDS7421.1																																																																																				0.373	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
IDE	3416	broad.mit.edu	37	10	94291644	94291644	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:94291644G>A	ENST00000265986.6	-	4	578	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	174					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.F174F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AACTTTCATCGAACAAGGGGC	0.353																																					p.F174F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	10						.						70.0	65.0	67.0					10																	94291644		2203	4300	6503	94281624	SO:0001819	synonymous_variant	3416	exon4			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.522C>T	10.37:g.94291644G>A			94281624	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	CCDS7421.1																																																																																				0.353	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
KIF11	3832	broad.mit.edu	37	10	94408059	94408059	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:94408059T>G	ENST00000260731.3	+	19	2728	c.2638T>G	c.(2638-2640)Ttt>Gtt	p.F880V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	880					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.F880V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCATAACATTTTTCTTGATCA	0.343																																					p.F880V	Colon(47;212 1003 2764 4062 8431)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2638G	10						.						87.0	81.0	83.0					10																	94408059		2203	4300	6503	94398039	SO:0001583	missense	3832	exon19			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2638T>G	10.37:g.94408059T>G	ENSP00000260731:p.Phe880Val		94398039	NM_004523	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	T	3.168	-0.170543	0.06461	.	.	ENSG00000138160	ENST00000260731	T	0.71934	-0.61	5.67	3.3	0.37823	.	0.244121	0.38326	N	0.001735	T	0.49898	0.1584	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.09590	T	0.72	.	5.3297	0.15926	0.1541:0.0835:0.0:0.7623	.	880	P52732	KIF11_HUMAN	V	880	ENSP00000260731:F880V	ENSP00000260731:F880V	F	+	1	0	KIF11	94398039	0.919000	0.31177	0.006000	0.13384	0.421000	0.31385	1.347000	0.33975	0.405000	0.25532	0.524000	0.50904	TTT		0.343	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	
MYOF	26509	broad.mit.edu	37	10	95070325	95070325	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:95070325C>T	ENST00000359263.4	-	52	5964	c.5965G>A	c.(5965-5967)Gaa>Aaa	p.E1989K	MYOF_ENST00000371501.4_Missense_Mutation_p.E1989K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1976K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1979K	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1989					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.E1989K(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						ATGTTGGGTTCGTCCCGCCCC	0.557																																					p.E1976K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5926A	10						.						129.0	133.0	132.0					10																	95070325		1920	4112	6032	95060315	SO:0001583	missense	26509	exon51			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.5965G>A	10.37:g.95070325C>T	ENSP00000352208:p.Glu1989Lys		95060315	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275483	0.95459	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-1.96	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.942	D	0.92812	0.6265	10	0.51188	T	0.08	-26.4985	18.8435	0.92194	0.0:1.0:0.0:0.0	.	1976;1989	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	K	1976;1989;1989;1979	ENSP00000351094:E1976K;ENSP00000352208:E1989K;ENSP00000360556:E1989K;ENSP00000360557:E1979K	ENSP00000351094:E1976K	E	-	1	0	MYOF	95060315	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.640000	0.83355	2.677000	0.91161	0.549000	0.68633	GAA		0.557	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
MYOF	26509	broad.mit.edu	37	10	95107488	95107488	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:95107488C>T	ENST00000359263.4	-	37	4134	c.4135G>A	c.(4135-4137)Gac>Aac	p.D1379N	MYOF_ENST00000371501.4_Missense_Mutation_p.D1379N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1366N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1379N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1379					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.D1379N(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						TGCCTGTGGTCGATGACCTTG	0.567																																					p.D1366N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4096A	10						.						51.0	54.0	53.0					10																	95107488		1976	4155	6131	95097478	SO:0001583	missense	26509	exon36			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.4135G>A	10.37:g.95107488C>T	ENSP00000352208:p.Asp1379Asn		95097478	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304427	0.81136	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.69	5.69	0.88448	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.048689	0.85682	D	0.000000	D	0.90403	0.6996	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.92245	0.5804	10	0.87932	D	0	-24.2225	19.7999	0.96502	0.0:1.0:0.0:0.0	.	1366;1379	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	N	1366;1379;1379;1379	ENSP00000351094:D1366N;ENSP00000352208:D1379N;ENSP00000360556:D1379N;ENSP00000360557:D1379N	ENSP00000351094:D1366N	D	-	1	0	MYOF	95097478	1.000000	0.71417	0.998000	0.56505	0.016000	0.09150	7.818000	0.86416	2.691000	0.91804	0.561000	0.74099	GAC		0.567	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
PDE6C	5146	broad.mit.edu	37	10	95381722	95381722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:95381722G>T	ENST00000371447.3	+	4	895	c.757G>T	c.(757-759)Gaa>Taa	p.E253*		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	253					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.E253*(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)	AGTATTTGAAGAACTCACAGA	0.398																																					p.E253X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G757T	10						.						143.0	137.0	139.0					10																	95381722		2203	4300	6503	95371712	SO:0001587	stop_gained	5146	exon4			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.757G>T	10.37:g.95381722G>T	ENSP00000360502:p.Glu253*		95371712	NM_006204	A6NCR6|Q5VY29	Nonsense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	39	7.666869	0.98422	.	.	ENSG00000095464	ENST00000371447	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5198	0.90948	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	ENSP00000360502:E253X	E	+	1	0	PDE6C	95371712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.764000	0.85297	2.683000	0.91414	0.561000	0.74099	GAA		0.398	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	
PDE6C	5146	broad.mit.edu	37	10	95395327	95395327	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:95395327G>T	ENST00000371447.3	+	10	1481	c.1343G>T	c.(1342-1344)aGa>aTa	p.R448I		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	448					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.R448K(1)|p.R448I(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)	CTAGAAAACAGAAAGGACATT	0.373																																					p.R448I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1343T	10						.						122.0	112.0	115.0					10																	95395327		2203	4300	6503	95385317	SO:0001583	missense	5146	exon10			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.1343G>T	10.37:g.95395327G>T	ENSP00000360502:p.Arg448Ile		95385317	NM_006204	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148924	0.78001	.	.	ENSG00000095464	ENST00000371447	T	0.71222	-0.55	5.03	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	M	0.88310	2.945	0.80722	D	1	P	0.43662	0.814	P	0.44561	0.453	T	0.82086	-0.0631	10	0.87932	D	0	.	12.5741	0.56354	0.0827:0.0:0.9173:0.0	.	448	P51160	PDE6C_HUMAN	I	448	ENSP00000360502:R448I	ENSP00000360502:R448I	R	+	2	0	PDE6C	95385317	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	5.187000	0.65087	1.295000	0.44724	0.650000	0.86243	AGA		0.373	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	
CYP2C19	1557	broad.mit.edu	37	10	96602622	96602622	+	Silent	SNP	C	C	A	rs3758580	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:96602622C>A	ENST00000371321.3	+	7	1072	c.990C>A	c.(988-990)gtC>gtA	p.V330V	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	330					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.V330V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGAACGTGTCGTTGGCAGAA	0.507																																					p.V330V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C990A	10						.						164.0	145.0	152.0					10																	96602622		2203	4300	6503	96592612	SO:0001819	synonymous_variant	1557	exon7			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.990C>A	10.37:g.96602622C>A			96592612	NM_000769	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	ENST00000371321.3	37	CCDS7436.1																																																																																				0.507	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769	
CYP2C9	1559	broad.mit.edu	37	10	96701651	96701651	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:96701651T>G	ENST00000260682.6	+	2	217	c.205T>G	c.(205-207)Ttt>Gtt	p.F69V	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	69					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.F69V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CACTCTGTATTTTGGCCTGAA	0.443																																					p.F69V	Ovarian(54;1266 1406 16072 35076)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T205G	10						.						257.0	248.0	251.0					10																	96701651		2203	4300	6503	96691641	SO:0001583	missense	1559	exon2			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.205T>G	10.37:g.96701651T>G	ENSP00000260682:p.Phe69Val		96691641	NM_000771	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	7.072	0.568430	0.13560	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.12147	2.71	3.34	0.813	0.18749	.	0.486337	0.19054	U	0.123947	T	0.19208	0.0461	L	0.41906	1.305	0.28571	N	0.910638	B;B;B	0.31680	0.335;0.335;0.212	B;B;P	0.51833	0.287;0.287;0.681	T	0.32534	-0.9903	10	0.52906	T	0.07	.	3.7711	0.08642	0.1891:0.1154:0.0:0.6955	.	69;69;69	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	V	69	ENSP00000260682:F69V	ENSP00000260682:F69V	F	+	1	0	CYP2C9	96691641	0.053000	0.20554	0.944000	0.38274	0.141000	0.21300	-0.367000	0.07553	0.035000	0.15519	0.397000	0.26171	TTT		0.443	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
CYP2C8	1558	broad.mit.edu	37	10	96797060	96797060	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:96797060C>T	ENST00000371270.3	-	9	1392	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	CYP2C8_ENST00000535898.1_Missense_Mutation_p.R331Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	433					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.K432_G437delKRICAG(1)|p.R433Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TGCACAAATTCGTTTTCCTGA	0.363																																					p.R433Q												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|breast(1)	c.G1298A	10						.						66.0	65.0	65.0					10																	96797060		2203	4300	6503	96787050	SO:0001583	missense	1558	exon9			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1298G>A	10.37:g.96797060C>T	ENSP00000360317:p.Arg433Gln		96787050	NM_000770	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.528987	0.64860	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898	D;D	0.84660	-1.88;-1.88	3.9	2.99	0.34606	Cytochrome P450, conserved site (1);	0.000000	0.64402	U	0.000002	D	0.93993	0.8076	H	0.96805	3.885	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.991;0.997	D	0.93741	0.7050	10	0.87932	D	0	.	9.4343	0.38628	0.0:0.8919:0.0:0.1081	.	331;401;433	B7Z1F6;B7Z8S1;P10632	.;.;CP2C8_HUMAN	Q	433;400;331	ENSP00000360317:R433Q;ENSP00000445062:R331Q	ENSP00000360317:R433Q	R	-	2	0	CYP2C8	96787050	0.610000	0.26983	0.028000	0.17463	0.051000	0.14879	6.146000	0.71777	0.978000	0.38470	0.585000	0.79938	CGA		0.363	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	
ZNF518A	9849	broad.mit.edu	37	10	97919915	97919915	+	RNA	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:97919915G>A	ENST00000534948.1	+	0	4693							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACTGTAAACGAAAGTGTAGG	0.328																																					p.R1279Q												.	.	0			c.G3836A	10						.						30.0	30.0	30.0					10																	97919915		1833	4075	5908	97909905			9849	exon6			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919915G>A			97909905	NM_014803	A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.328	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803	
DNTT	1791	broad.mit.edu	37	10	98079113	98079113	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:98079113G>T	ENST00000371174.2	+	3	575	c.473G>T	c.(472-474)aGa>aTa	p.R158I	DNTT_ENST00000419175.1_Missense_Mutation_p.R158I			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	158	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R158I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGTCAGAGAAGAACCACTTTA	0.483																																					p.R158I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473T	10						.						162.0	159.0	160.0					10																	98079113		2203	4300	6503	98069103	SO:0001583	missense	1791	exon3			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.473G>T	10.37:g.98079113G>T	ENSP00000360216:p.Arg158Ile		98069103	NM_004088	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240546	0.79912	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.44083	0.93;0.93	5.48	3.64	0.41730	DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.100121	0.64402	D	0.000003	T	0.53997	0.1831	M	0.80183	2.485	0.48288	D	0.99962	D;D	0.57257	0.979;0.964	P;P	0.53224	0.721;0.53	T	0.56715	-0.7933	10	0.59425	D	0.04	-3.5438	8.7036	0.34340	0.1762:0.0:0.8238:0.0	.	158;158	P04053-2;P04053	.;TDT_HUMAN	I	158	ENSP00000401169:R158I;ENSP00000360216:R158I	ENSP00000360216:R158I	R	+	2	0	DNTT	98069103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.901000	0.39838	0.805000	0.34159	0.655000	0.94253	AGA		0.483	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	
DNTT	1791	broad.mit.edu	37	10	98092188	98092188	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:98092188T>C	ENST00000371174.2	+	9	1296	c.1194T>C	c.(1192-1194)gaT>gaC	p.D398D	DNTT_ENST00000419175.1_Silent_p.D398D			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	398	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ATGCTTTGGATCATTTTCAAA	0.438																																					p.D398D												.	.	0			c.T1194C	10						.						126.0	123.0	124.0					10																	98092188		2203	4300	6503	98082178	SO:0001819	synonymous_variant	1791	exon9			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1194T>C	10.37:g.98092188T>C			98082178	NM_004088	Q53FH1|Q5W103|Q96E50	Silent	SNP	ENST00000371174.2	37	CCDS7447.1																																																																																				0.438	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	
DNTT	1791	broad.mit.edu	37	10	98092269	98092269	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:98092269G>T	ENST00000371174.2	+	9	1377	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	DNTT_ENST00000419175.1_Missense_Mutation_p.K425N			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	425	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.K425N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AGGAAGGAAAGACCTGGAAGG	0.512																																					p.K425N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1275T	10						.						185.0	160.0	169.0					10																	98092269		2203	4300	6503	98082259	SO:0001583	missense	1791	exon9			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1275G>T	10.37:g.98092269G>T	ENSP00000360216:p.Lys425Asn		98082259	NM_004088	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031564	0.75504	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.42131	0.98;0.98	5.81	3.74	0.42951	DNA-directed DNA polymerase X (1);	0.050412	0.85682	D	0.000000	T	0.53867	0.1823	M	0.73217	2.22	0.41135	D	0.985918	D;D	0.76494	0.999;0.995	D;P	0.62955	0.909;0.729	T	0.55685	-0.8102	10	0.49607	T	0.09	-0.1017	5.204	0.15281	0.3384:0.0:0.6616:0.0	.	425;425	P04053-2;P04053	.;TDT_HUMAN	N	425	ENSP00000401169:K425N;ENSP00000360216:K425N	ENSP00000360216:K425N	K	+	3	2	DNTT	98082259	0.991000	0.36638	0.988000	0.46212	0.899000	0.52679	1.600000	0.36762	1.463000	0.47967	0.655000	0.94253	AAG		0.512	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	
DNTT	1791	broad.mit.edu	37	10	98095721	98095721	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:98095721A>G	ENST00000371174.2	+	10	1535	c.1433A>G	c.(1432-1434)gAc>gGc	p.D478G	DNTT_ENST00000419175.1_Missense_Mutation_p.D477G			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	478	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D478G(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GCTTTATATGACAAGACCAAG	0.448																																					p.D478G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1433G	10						.						159.0	159.0	159.0					10																	98095721		2203	4300	6503	98085711	SO:0001583	missense	1791	exon10			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1433A>G	10.37:g.98095721A>G	ENSP00000360216:p.Asp478Gly		98085711	NM_004088	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.255495	0.80135	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.46063	0.88;0.88	5.94	5.94	0.96194	DNA-directed DNA polymerase X (1);	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.82517	2.595	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71507	-0.4572	10	0.72032	D	0.01	-0.4186	12.7897	0.57526	1.0:0.0:0.0:0.0	.	477;478	P04053-2;P04053	.;TDT_HUMAN	G	477;478	ENSP00000401169:D477G;ENSP00000360216:D478G	ENSP00000360216:D478G	D	+	2	0	DNTT	98085711	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	7.904000	0.87408	2.279000	0.76181	0.459000	0.35465	GAC		0.448	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	
LCOR	84458	broad.mit.edu	37	10	98709046	98709046	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:98709046G>A	ENST00000371097.4	+	6	778	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	LCOR_ENST00000356016.3_Missense_Mutation_p.E78K|LCOR_ENST00000540664.1_Missense_Mutation_p.E78K|LCOR_ENST00000371103.3_Missense_Mutation_p.E78K|LCOR_ENST00000498444.1_3'UTR			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	78					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E78K(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AGAACCTAGCGAACAAGGTAT	0.448																																					p.E78K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	10						.						136.0	134.0	134.0					10																	98709046		2203	4300	6503	98699036	SO:0001583	missense	26148	exon6				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.232G>A	10.37:g.98709046G>A	ENSP00000360138:p.Glu78Lys		98699036	NM_032440	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694654	0.48202	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	4.85	4.85	0.62838	.	0.280883	0.36134	N	0.002768	T	0.39600	0.1084	L	0.34521	1.04	0.37836	D	0.928893	P;P	0.42010	0.768;0.741	B;B	0.28139	0.086;0.04	T	0.53968	-0.8363	9	0.56958	D	0.05	-5.9128	18.323	0.90244	0.0:0.0:1.0:0.0	.	78;78	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	K	78	.	ENSP00000348298:E78K	E	+	1	0	LCOR	98699036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.167000	0.58209	2.379000	0.81126	0.650000	0.86243	GAA		0.448	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2		
MMS19	64210	broad.mit.edu	37	10	99227319	99227319	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:99227319G>T	ENST00000438925.2	-	14	1575	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I	MMS19_ENST00000327238.10_Missense_Mutation_p.L316I|MMS19_ENST00000483626.1_5'Flank|MMS19_ENST00000370782.2_Missense_Mutation_p.L414I|MMS19_ENST00000355839.6_Missense_Mutation_p.L371I|MMS19_ENST00000327277.7_Missense_Mutation_p.L50I	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	414					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)	p.L414I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGCATTTCAAGGATTGTCCGC	0.453								Direct reversal of damage																													p.L414I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1240A	10						.						104.0	93.0	97.0					10																	99227319		2203	4300	6503	99217309	SO:0001583	missense	64210	exon14			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1240C>A	10.37:g.99227319G>T	ENSP00000412698:p.Leu414Ile		99217309	NM_022362	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445208	0.83993	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000327277;ENST00000355839	T;T;T;T;T	0.68903	-0.36;-0.36;-0.25;-0.36;-0.36	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.67953	2.075	0.41024	D	0.985107	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.987;0.997	T	0.77140	-0.2697	10	0.37606	T	0.19	.	12.7716	0.57423	0.117:0.0:0.883:0.0	.	435;316;414;371	B4DQX2;Q96T76-5;Q96T76;B4E2I3	.;.;MMS19_HUMAN;.	I	414;414;316;393;50;371	ENSP00000412698:L414I;ENSP00000359818:L414I;ENSP00000320059:L316I;ENSP00000322236:L50I;ENSP00000348097:L371I	ENSP00000320059:L316I	L	-	1	0	MMS19	99217309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.396000	0.44468	2.726000	0.93360	0.655000	0.94253	CTT		0.453	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2		
SFRP5	6425	broad.mit.edu	37	10	99527606	99527606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:99527606G>A	ENST00000266066.3	-	3	737	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	207	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R207C(2)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TCCTTGATGCGCATTTTGACC	0.542																																					p.R207C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C619T	10						.						62.0	64.0	63.0					10																	99527606		2203	4300	6503	99517596	SO:0001583	missense	6425	exon3			AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.619C>T	10.37:g.99527606G>A	ENSP00000266066:p.Arg207Cys		99517596	NM_003015	O14780|Q86TH7	Missense_Mutation	SNP	ENST00000266066.3	37	CCDS7472.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077243	0.76415	.	.	ENSG00000120057	ENST00000266066	T	0.25085	1.82	5.74	5.74	0.90152	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.057147	0.64402	D	0.000002	T	0.28896	0.0717	L	0.49350	1.555	0.80722	D	1	P	0.43431	0.807	B	0.37989	0.262	T	0.07366	-1.0776	10	0.87932	D	0	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	207	Q5T4F7	SFRP5_HUMAN	C	207	ENSP00000266066:R207C	ENSP00000266066:R207C	R	-	1	0	SFRP5	99517596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.399000	0.52586	2.712000	0.92718	0.561000	0.74099	CGC		0.542	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015	
R3HCC1L	27291	broad.mit.edu	37	10	99968528	99968528	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:99968528G>A	ENST00000298999.3	+	5	960	c.657G>A	c.(655-657)gaG>gaA	p.E219E	R3HCC1L_ENST00000370584.3_Silent_p.E219E|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	219							nucleotide binding (GO:0000166)	p.E219E(1)									TACTATATGAGTTTCCTAGAG	0.363																																					p.E219E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A	10						.						57.0	60.0	59.0					10																	99968528		2203	4300	6503	99958518	SO:0001819	synonymous_variant	27291	exon4			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.657G>A	10.37:g.99968528G>A			99958518	NM_014472	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	CCDS31267.1																																																																																				0.363	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472	
JAKMIP3	282973	broad.mit.edu	37	10	133949485	133949485	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr10:133949485A>C	ENST00000298622.4	+	5	1159	c.1021A>C	c.(1021-1023)Aac>Cac	p.N341H		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	341						Golgi apparatus (GO:0005794)		p.N341H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTGGATAAAAACAAGCGCCT	0.443																																					p.N341H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1021C	10						.						59.0	66.0	64.0					10																	133949485		1930	4122	6052	133799475	SO:0001583	missense	282973	exon5			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1021A>C	10.37:g.133949485A>C	ENSP00000298622:p.Asn341His		133799475	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.051932	0.55218	.	.	ENSG00000188385	ENST00000298622	T	0.48201	0.82	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	M	0.74467	2.265	0.52099	D	0.999948	D	0.63880	0.993	P	0.56700	0.804	T	0.65529	-0.6146	10	0.48119	T	0.1	-22.1396	13.5202	0.61563	1.0:0.0:0.0:0.0	.	341	Q5VZ66	JKIP3_HUMAN	H	341	ENSP00000298622:N341H	ENSP00000298622:N341H	N	+	1	0	JAKMIP3	133799475	1.000000	0.71417	0.994000	0.49952	0.052000	0.14988	8.604000	0.90877	1.794000	0.52575	0.528000	0.53228	AAC		0.443	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
FAT3	120114	broad.mit.edu	37	11	92085664	92085665	+	Frame_Shift_Ins	INS	-	-	A	rs547765194	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:92085664_92085665insA	ENST00000298047.6	+	1	403_404	c.386_387insA	c.(385-390)gtaaaafs	p.VK129fs	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.VK129fs|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.VK129fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	129	Cadherin 1. {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.G131fs*23(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)				TTATTGATAGTAAAAGGTTCTG	0.351										TCGA Ovarian(4;0.039)																											p.V129fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.386_387insA	11						.																																			91725313	SO:0001589	frameshift_variant	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.390dupA	11.37:g.92085668_92085668dupA	ENSP00000298047:p.Val129fs		91725312	NM_001008781	B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37																																																																																					0.351	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
TRPC6	7225	broad.mit.edu	37	11	101344457	101344457	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:101344457G>T	ENST00000344327.3	-	7	2216	c.1792C>A	c.(1792-1794)Ctt>Att	p.L598I	TRPC6_ENST00000532133.1_Missense_Mutation_p.L520I|TRPC6_ENST00000348423.4_Missense_Mutation_p.L482I|TRPC6_ENST00000360497.4_Missense_Mutation_p.L543I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	598					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L598I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATTGCATAAAGACCTTCAGAT	0.363																																					p.L598I	Colon(166;1315 1927 11094 12848 34731)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1792A	11						.						78.0	80.0	79.0					11																	101344457		2203	4298	6501	100849667	SO:0001583	missense	7225	exon7			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1792C>A	11.37:g.101344457G>T	ENSP00000340913:p.Leu598Ile		100849667	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282835	0.80692	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.998;0.999	D	0.99525	1.0959	10	0.66056	D	0.02	-7.3315	20.2985	0.98592	0.0:0.0:1.0:0.0	.	543;482;598	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	I	598;520;482;543	ENSP00000340913:L598I;ENSP00000435574:L520I;ENSP00000343672:L482I;ENSP00000353687:L543I	ENSP00000340913:L598I	L	-	1	0	TRPC6	100849667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.005000	0.88553	2.793000	0.96121	0.655000	0.94253	CTT		0.363	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
ANGPTL5	253935	broad.mit.edu	37	11	101771229	101771229	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:101771229C>A	ENST00000334289.3	-	7	1188	c.593G>T	c.(592-594)aGa>aTa	p.R198I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	198	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.R198I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CCCATCAATTCTTTTCTGTAT	0.343																																					p.R198I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593T	11						.						162.0	141.0	148.0					11																	101771229		2203	4299	6502	101276439	SO:0001583	missense	253935	exon7			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.593G>T	11.37:g.101771229C>A	ENSP00000335255:p.Arg198Ile		101276439	NM_178127	A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917315	0.92249	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	D;D	0.86030	-2.06;-2.06	4.88	4.88	0.63580	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	0.95095	0.8411	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96731	0.9539	10	0.87932	D	0	.	18.4203	0.90588	0.0:1.0:0.0:0.0	.	198	Q86XS5	ANGL5_HUMAN	I	198;133	ENSP00000335255:R198I;ENSP00000433562:R133I	ENSP00000335255:R198I	R	-	2	0	ANGPTL5	101276439	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	6.439000	0.73430	2.398000	0.81561	0.650000	0.86243	AGA		0.343	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
ANGPTL5	253935	broad.mit.edu	37	11	101776545	101776545	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:101776545C>A	ENST00000334289.3	-	4	870	c.275G>T	c.(274-276)aGa>aTa	p.R92I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	92						extracellular region (GO:0005576)		p.R92I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTTGGTACTTCTTGTGTAGGA	0.274																																					p.R92I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275T	11						.						116.0	112.0	113.0					11																	101776545		2202	4296	6498	101281755	SO:0001583	missense	253935	exon4			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.275G>T	11.37:g.101776545C>A	ENSP00000335255:p.Arg92Ile		101281755	NM_178127	A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948840	0.73787	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.60672	0.17;0.56	5.14	3.28	0.37604	.	0.101136	0.64402	D	0.000005	T	0.61035	0.2315	M	0.61703	1.905	0.58432	D	0.999992	P	0.51240	0.943	P	0.51918	0.684	T	0.56637	-0.7946	10	0.22706	T	0.39	.	11.4468	0.50127	0.0:0.8516:0.0:0.1484	.	92	Q86XS5	ANGL5_HUMAN	I	92	ENSP00000335255:R92I;ENSP00000433562:R92I	ENSP00000335255:R92I	R	-	2	0	ANGPTL5	101281755	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.240000	0.43088	0.682000	0.31407	0.591000	0.81541	AGA		0.274	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
MMP20	9313	broad.mit.edu	37	11	102448100	102448100	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:102448100T>C	ENST00000260228.2	-	10	1421	c.1409A>G	c.(1408-1410)gAt>gGt	p.D470G		NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	495					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D470G(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	ACTAACCACATCTTCCTTCTC	0.398																																					p.D470G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1409G	11						.						214.0	199.0	204.0					11																	102448100		2203	4299	6502	101953310	SO:0001583	missense	9313	exon10			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1409A>G	11.37:g.102448100T>C	ENSP00000260228:p.Asp470Gly		101953310	NM_004771	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891289	0.72524	.	.	ENSG00000137674	ENST00000260228	T	0.02606	4.23	5.14	5.14	0.70334	Hemopexin/matrixin (2);	0.552381	0.21323	N	0.076438	T	0.04815	0.0130	L	0.27053	0.805	0.48901	D	0.99972	B	0.34255	0.445	B	0.43360	0.417	T	0.51872	-0.8650	10	0.66056	D	0.02	.	14.0806	0.64919	0.0:0.0:0.0:1.0	.	470	O60882	MMP20_HUMAN	G	470	ENSP00000260228:D470G	ENSP00000260228:D470G	D	-	2	0	MMP20	101953310	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.568000	0.53820	2.158000	0.67659	0.455000	0.32223	GAT		0.398	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		
MMP27	64066	broad.mit.edu	37	11	102565775	102565775	+	Missense_Mutation	SNP	G	G	A	rs528734512		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:102565775G>A	ENST00000260229.4	-	7	1047	c.956C>T	c.(955-957)gCt>gTt	p.A319V		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	319					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A319V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CCAGAATGAAGCAATTAATTC	0.428																																					p.A319V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C956T	11						.						124.0	118.0	120.0					11																	102565775		2203	4299	6502	102070985	SO:0001583	missense	64066	exon7			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.956C>T	11.37:g.102565775G>A	ENSP00000260229:p.Ala319Val		102070985	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700593	0.68501	.	.	ENSG00000137675	ENST00000260229	T	0.02763	4.17	5.8	4.87	0.63330	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.305582	0.28382	N	0.015541	T	0.05502	0.0145	L	0.49571	1.57	0.24962	N	0.991722	B	0.31625	0.332	B	0.39027	0.288	T	0.16394	-1.0404	10	0.72032	D	0.01	.	11.3925	0.49822	0.0:0.1323:0.7216:0.1461	.	319	Q9H306	MMP27_HUMAN	V	319	ENSP00000260229:A319V	ENSP00000260229:A319V	A	-	2	0	MMP27	102070985	0.886000	0.30341	1.000000	0.80357	0.988000	0.76386	2.263000	0.43293	1.404000	0.46819	0.655000	0.94253	GCT		0.428	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
DYNC2H1	79659	broad.mit.edu	37	11	103091397	103091397	+	Missense_Mutation	SNP	G	G	A	rs374762677		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:103091397G>A	ENST00000375735.2	+	57	9136	c.8992G>A	c.(8992-8994)Gaa>Aaa	p.E2998K	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E2998K|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2998	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E431K(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTAAGCCCGAATCACTTTC	0.333																																					p.E2998K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8992A	11						.	G	LYS/GLU,LYS/GLU	0,3722		0,0,1861	105.0	103.0	104.0		8992,8992	6.0	1.0	11		104	1,8219		0,1,4109	no	missense,missense	DYNC2H1	NM_001080463.1,NM_001377.2	56,56	0,1,5970	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	2998/4315,2998/4308	103091397	1,11941	1861	4110	5971	102596607	SO:0001583	missense	79659	exon57			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8992G>A	11.37:g.103091397G>A	ENSP00000364887:p.Glu2998Lys		102596607	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975489	0.92919	0.0	1.22E-4	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74209	-0.82;-0.82	5.99	5.99	0.97316	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.64402	U	0.000002	T	0.81422	0.4819	L	0.55103	1.725	0.80722	D	1	D;D	0.64830	0.994;0.978	P;P	0.62184	0.899;0.761	T	0.73636	-0.3920	10	0.09084	T	0.74	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	2998;2998	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	K	2998	ENSP00000364887:E2998K;ENSP00000381167:E2998K	ENSP00000364887:E2998K	E	+	1	0	DYNC2H1	102596607	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GAA		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
LYVE1	10894	broad.mit.edu	37	11	10580733	10580733	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:10580733C>A	ENST00000256178.3	-	6	1052	c.894G>T	c.(892-894)aaG>aaT	p.K298N	LYVE1_ENST00000529598.1_Missense_Mutation_p.K194N|LYVE1_ENST00000531706.1_5'Flank|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	298					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.K298N(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		TATCAGTTTTCTTTGATTCCT	0.423																																					p.K298N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G894T	11						.						285.0	262.0	270.0					11																	10580733		2201	4294	6495	10537309	SO:0001583	missense	10894	exon6			AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.894G>T	11.37:g.10580733C>A	ENSP00000256178:p.Lys298Asn		10537309	NM_006691	Q8TC18|Q9UNF4	Missense_Mutation	SNP	ENST00000256178.3	37	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896239	0.52121	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	T;T	0.38887	2.91;1.11	6.02	4.16	0.48862	.	0.144262	0.51477	D	0.000092	T	0.58148	0.2102	M	0.69823	2.125	0.38767	D	0.954465	D;D	0.76494	0.999;0.998	D;P	0.63283	0.913;0.82	T	0.63620	-0.6596	10	0.72032	D	0.01	-9.2125	10.3119	0.43714	0.0:0.8461:0.0:0.1539	.	194;298	F2Z296;Q9Y5Y7	.;LYVE1_HUMAN	N	298;194	ENSP00000256178:K298N;ENSP00000436016:K194N	ENSP00000256178:K298N	K	-	3	2	LYVE1	10537309	1.000000	0.71417	0.986000	0.45419	0.352000	0.29268	1.281000	0.33214	0.888000	0.36160	0.655000	0.94253	AAG		0.423	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164	
CASP5	838	broad.mit.edu	37	11	104874015	104874015	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:104874015T>G	ENST00000260315.3	-	4	528	c.529A>C	c.(529-531)Aaa>Caa	p.K177Q	CASP5_ENST00000393139.2_Intron|CASP5_ENST00000531367.1_Missense_Mutation_p.K35Q|CASP5_ENST00000444749.2_Missense_Mutation_p.K119Q|CASP5_ENST00000393141.2_Missense_Mutation_p.K190Q|CASP5_ENST00000418434.1_Missense_Mutation_p.K35Q|CASP5_ENST00000526056.1_Missense_Mutation_p.K190Q			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	177					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.K161Q(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)		TCATGATTTTTTTTACACAGT	0.398																																					p.K190Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A568C	11						.						131.0	131.0	131.0					11																	104874015		2202	4299	6501	104379225	SO:0001583	missense	838	exon4				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.529A>C	11.37:g.104874015T>G	ENSP00000260315:p.Lys177Gln		104379225	NM_001136112	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	9.052	0.992335	0.18966	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367;ENST00000456094	T;T;T;T;T;T;T	0.10960	4.09;4.09;4.09;4.09;4.09;4.09;2.82	4.19	2.25	0.28309	.	1.153270	0.06380	N	0.715110	T	0.05960	0.0155	N	0.08118	0	0.23889	N	0.996556	B;B;B;B	0.17465	0.002;0.004;0.007;0.022	B;B;B;B	0.18561	0.015;0.015;0.01;0.022	T	0.43893	-0.9363	10	0.25106	T	0.35	.	6.0688	0.19877	0.0:0.701:0.1911:0.1079	.	35;119;177;190	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	Q	190;35;177;119;190;35;161	ENSP00000376849:K190Q;ENSP00000398130:K35Q;ENSP00000260315:K177Q;ENSP00000388365:K119Q;ENSP00000436877:K190Q;ENSP00000434471:K35Q;ENSP00000415241:K161Q	ENSP00000260315:K177Q	K	-	1	0	CASP5	104379225	0.000000	0.05858	0.124000	0.21820	0.020000	0.10135	-0.466000	0.06672	0.346000	0.23899	-0.534000	0.04291	AAA		0.398	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
MSANTD4	84437	broad.mit.edu	37	11	105881195	105881195	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:105881195C>T	ENST00000301919.4	-	2	1865	c.450G>A	c.(448-450)ccG>ccA	p.P150P	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	150						nucleus (GO:0005634)		p.P150P(1)									CAGGACTCTGCGGATCCCTTT	0.418																																					p.P150P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G450A	11						.						113.0	111.0	112.0					11																	105881195		2201	4299	6500	105386405	SO:0001819	synonymous_variant	84437	exon2			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.450G>A	11.37:g.105881195C>T			105386405	NM_032424	Q96JK1|Q96JZ3|Q9H2N4	Silent	SNP	ENST00000301919.4	37	CCDS31663.1																																																																																				0.418	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424	
KBTBD3	143879	broad.mit.edu	37	11	105929663	105929663	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:105929663G>T	ENST00000531482.2	-	1	175	c.162C>A	c.(160-162)ttC>ttA	p.F54L	KBTBD3_ENST00000526793.1_Missense_Mutation_p.F54L|KBTBD3_ENST00000531837.1_Missense_Mutation_p.F54L|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	50	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.F54L(2)		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)		TAATTATTTTGAAATCATAAA	0.328																																					p.F54L												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C162A	11						.						81.0	81.0	81.0					11																	105929663		2201	4298	6499	105434873	SO:0001583	missense	143879	exon2			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		ENST00000531482.2:c.162C>A	11.37:g.105929663G>T	ENSP00000475836:p.Phe54Leu		105434873	NM_152433	Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000531482.2	37		.	.	.	.	.	.	.	.	.	.	G	16.34	3.096026	0.56075	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.68765	-0.35;-0.35	5.7	2.4	0.29515	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	N	0.25890	0.77	0.46654	D	0.999144	P;D	0.60160	0.704;0.987	P;P	0.62089	0.581;0.898	T	0.65512	-0.6150	10	0.59425	D	0.04	.	9.1383	0.36888	0.3776:0.0:0.6224:0.0	.	54;50	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	L	54	ENSP00000436262:F54L;ENSP00000432163:F54L	ENSP00000436262:F54L	F	-	3	2	KBTBD3	105434873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.805000	0.38883	0.773000	0.33404	-0.137000	0.14449	TTC		0.328	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433	
GUCY1A2	2977	broad.mit.edu	37	11	106810391	106810391	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:106810391T>C	ENST00000526355.2	-	4	1469	c.1001A>G	c.(1000-1002)gAt>gGt	p.D334G	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.D334G|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.D334G	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	334					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.D334G(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CATGCTGGGATCAAACATCAA	0.483																																					p.D334G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1001G	11						.						80.0	70.0	74.0					11																	106810391		2201	4298	6499	106315601	SO:0001583	missense	2977	exon4			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1001A>G	11.37:g.106810391T>C	ENSP00000431245:p.Asp334Gly		106315601	NM_000855	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247699	0.39697	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.89681	-2.55;-2.55;-2.55	5.77	5.77	0.91146	Haem NO binding associated (1);	0.000000	0.47093	U	0.000259	D	0.86100	0.5852	L	0.41632	1.29	0.54753	D	0.999986	B;B;B	0.28291	0.031;0.206;0.031	B;B;B	0.33454	0.017;0.164;0.017	D	0.83948	0.0315	10	0.45353	T	0.12	.	15.2545	0.73573	0.0:0.0:0.0:1.0	.	334;334;334	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	G	334	ENSP00000431245:D334G;ENSP00000282249:D334G;ENSP00000344874:D334G	ENSP00000282249:D334G	D	-	2	0	GUCY1A2	106315601	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.064000	0.71169	2.200000	0.70718	0.482000	0.46254	GAT		0.483	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
CWF19L2	143884	broad.mit.edu	37	11	107286981	107286981	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:107286981T>G	ENST00000282251.5	-	10	1598	c.1571A>C	c.(1570-1572)aAa>aCa	p.K524T	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K524T	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	524							catalytic activity (GO:0003824)	p.K370T(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTCTTTGAATTTATTTGCCTT	0.313																																					p.K524T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1571C	11						.						98.0	91.0	93.0					11																	107286981		1817	3396	5213	106792191	SO:0001583	missense	143884	exon10			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1571A>C	11.37:g.107286981T>G	ENSP00000282251:p.Lys524Thr		106792191	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671343	0.67814	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.33438	1.41;1.41	5.56	5.56	0.83823	.	0.094151	0.64402	D	0.000001	T	0.40423	0.1116	M	0.78801	2.425	0.41338	D	0.987285	P	0.41420	0.749	B	0.43225	0.412	T	0.40308	-0.9570	10	0.49607	T	0.09	-22.6022	12.3997	0.55405	0.0:0.0:0.0:1.0	.	524	Q2TBE0	C19L2_HUMAN	T	524	ENSP00000282251:K524T;ENSP00000387533:K524T	ENSP00000282251:K524T	K	-	2	0	CWF19L2	106792191	1.000000	0.71417	0.977000	0.42913	0.728000	0.41692	2.815000	0.48018	2.244000	0.73946	0.528000	0.53228	AAA		0.313	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
ALKBH8	91801	broad.mit.edu	37	11	107427549	107427549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:107427549C>A	ENST00000428149.2	-	3	461	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000417449.2_Nonsense_Mutation_p.E107*|ALKBH8_ENST00000389568.3_Nonsense_Mutation_p.E104*|ALKBH8_ENST00000429370.1_Nonsense_Mutation_p.E104*	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	104	RRM.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)	p.E104*(2)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TCCACTACTTCTTTTCCATTG	0.353																																					p.E104X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G310T	11						.						112.0	103.0	106.0					11																	107427549		2201	4298	6499	106932759	SO:0001587	stop_gained	91801	exon3			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.310G>T	11.37:g.107427549C>A	ENSP00000415885:p.Glu104*		106932759	NM_138775	B1Q2M0|B4DEF6|Q8N989	Nonsense_Mutation	SNP	ENST00000428149.2	37	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	C	37	6.245145	0.97408	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	.	.	.	5.77	5.77	0.91146	.	0.228567	0.43747	D	0.000535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-14.9069	18.977	0.92742	0.0:1.0:0.0:0.0	.	.	.	.	X	104;104;104;107	.	ENSP00000260318:E104X	E	-	1	0	ALKBH8	106932759	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.595000	0.46197	2.704000	0.92352	0.655000	0.94253	GAA		0.353	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775	
EIF4G2	1982	broad.mit.edu	37	11	10823939	10823939	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:10823939C>T	ENST00000526148.1	-	12	1550	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.R347K|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R347K|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R347K|EIF4G2_ENST00000525995.1_5'Flank	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.R347K(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)		GAAGTCACTTCTCATCCCTTG	0.443																																					p.R347K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	11						.						134.0	132.0	133.0					11																	10823939		2201	4294	6495	10780515	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.1040G>A	11.37:g.10823939C>T	ENSP00000433664:p.Arg347Lys		10780515	NM_001418		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969900	0.74246	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.23552	2.18;2.18;2.18;2.18;1.9	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.27053	0.805	0.42796	D	0.993915	B;B;B	0.22276	0.023;0.013;0.067	B;B;B	0.15052	0.012;0.008;0.008	T	0.09509	-1.0671	9	0.05620	T	0.96	-9.938	20.3627	0.98863	0.0:1.0:0.0:0.0	.	347;347;420	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	K	347;347;347;347;420;347	ENSP00000433664:R347K;ENSP00000433371:R347K;ENSP00000340281:R347K;ENSP00000379778:R347K;ENSP00000431583:R347K	ENSP00000340281:R347K	R	-	2	0	EIF4G2	10780515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.885000	0.99019	0.655000	0.94253	AGA		0.443	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	108203493	108203493	+	Missense_Mutation	SNP	G	G	A	rs140263969		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:108203493G>A	ENST00000452508.2	+	54	7982	c.7793G>A	c.(7792-7794)cGa>cAa	p.R2598Q	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2598Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2598					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.R2598Q(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)	TAATAGGATCGAACAGAGGCT	0.323			"""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.R2598Q		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7793A	11	GRCh37	CX030370	ATM	X	rs140263969	.	G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	53.0	54.0	54.0		7793	4.9	1.0	11	dbSNP_134	54	0,8596		0,0,4298	no	missense	ATM	NM_000051.3	43	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2598/3057	108203493	1,12997	2201	4298	6499	107708703	SO:0001583	missense	472	exon53	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.7793G>A	11.37:g.108203493G>A	ENSP00000388058:p.Arg2598Gln		107708703	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946747	0.92593	2.27E-4	0.0	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.84589	-1.87;-1.87	4.95	4.95	0.65309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	P	0.60541	0.876	D	0.93352	0.6719	10	0.87932	D	0	.	18.5394	0.91022	0.0:0.0:1.0:0.0	.	2598	Q13315	ATM_HUMAN	Q	2598	ENSP00000278616:R2598Q;ENSP00000388058:R2598Q	ENSP00000278616:R2598Q	R	+	2	0	ATM	107708703	1.000000	0.71417	0.952000	0.39060	0.771000	0.43674	8.428000	0.90278	2.451000	0.82905	0.655000	0.94253	CGA		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
EXPH5	23086	broad.mit.edu	37	11	108382015	108382015	+	Missense_Mutation	SNP	C	C	T	rs146870938		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:108382015C>T	ENST00000265843.4	-	6	4329	c.4219G>A	c.(4219-4221)Gaa>Aaa	p.E1407K	EXPH5_ENST00000443411.1_Missense_Mutation_p.E1219K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1331K|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1400K	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1407					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.E1407K(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)		GATTTTTCTTCGGATACATTT	0.363																																					p.E1407K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4219A	11						.	C	LYS/GLU	0,4400		0,0,2200	89.0	90.0	90.0		4219	2.9	0.0	11	dbSNP_134	90	1,8595	1.2+/-3.3	0,1,4297	no	missense	EXPH5	NM_015065.2	56	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	1407/1990	108382015	1,12995	2200	4298	6498	107887225	SO:0001583	missense	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.4219G>A	11.37:g.108382015C>T	ENSP00000265843:p.Glu1407Lys		107887225	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867676	0.32977	0.0	1.16E-4	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03524	4.13;4.05;3.9;4.13;3.96	5.86	2.92	0.33932	.	0.854187	0.10521	N	0.665010	T	0.01905	0.0060	N	0.22421	0.69	0.09310	N	1	P	0.39624	0.681	B	0.26614	0.071	T	0.39781	-0.9597	10	0.10111	T	0.7	-1.7703	4.6261	0.12479	0.1871:0.5602:0.0:0.2528	.	1407	Q8NEV8	EXPH5_HUMAN	K	1407;1331;1219;1400;1331	ENSP00000265843:E1407K;ENSP00000391966:E1331K;ENSP00000411390:E1219K;ENSP00000432546:E1400K;ENSP00000432683:E1331K	ENSP00000265843:E1407K	E	-	1	0	EXPH5	107887225	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	0.461000	0.21940	0.352000	0.24053	0.591000	0.81541	GAA		0.363	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
ZC3H12C	85463	broad.mit.edu	37	11	110023657	110023657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:110023657G>T	ENST00000278590.3	+	3	838	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	ZC3H12C_ENST00000528673.1_Nonsense_Mutation_p.E264*|ZC3H12C_ENST00000453089.2_Nonsense_Mutation_p.E232*	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	263							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.E263*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGGAAACAAAGAAGTATTTTC	0.328																																					p.E263X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G787T	11						.						55.0	51.0	52.0					11																	110023657		1807	4071	5878	109528867	SO:0001587	stop_gained	85463	exon3				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.787G>T	11.37:g.110023657G>T	ENSP00000278590:p.Glu263*		109528867	NM_033390	B4DI65|B4DR47	Nonsense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	46	12.662954	0.99686	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-28.9191	20.1864	0.98220	0.0:0.0:1.0:0.0	.	.	.	.	X	263;264;232	.	ENSP00000278590:E263X	E	+	1	0	ZC3H12C	109528867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.781000	0.95711	0.650000	0.86243	GAA		0.328	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
RDX	5962	broad.mit.edu	37	11	110104186	110104186	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:110104186C>A	ENST00000343115.4	-	13	1682	c.1363G>T	c.(1363-1365)Gac>Tac	p.D455Y	RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Missense_Mutation_p.D108Y|RDX_ENST00000528498.1_Missense_Mutation_p.D455Y|RDX_ENST00000544551.1_Missense_Mutation_p.D319Y|RDX_ENST00000405097.1_Missense_Mutation_p.D455Y	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	455	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.D455Y(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-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;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTTTCCAAGTCTTCCTGGGCT	0.383																																					p.D455Y	Esophageal Squamous(55;25 1062 11040 28755 44273)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1363T	11						.						69.0	69.0	69.0					11																	110104186		2201	4298	6499	109609396	SO:0001583	missense	5962	exon13			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1363G>T	11.37:g.110104186C>A	ENSP00000342830:p.Asp455Tyr		109609396	NM_002906	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740071	0.89573	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	T;T;T;T;D;T	0.83506	1.43;1.43;1.43;1.43;-1.73;1.43	6.01	6.01	0.97437	Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92325	0.7565	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.97110	0.967;1.0;0.981;0.999	D	0.91977	0.5591	10	0.62326	D	0.03	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	319;455;455;108	F5H1A7;A7YIJ8;P35241;A7YIK3	.;.;RADI_HUMAN;.	Y	455;455;108;455;319;125	ENSP00000432112:D455Y;ENSP00000384136:D455Y;ENSP00000433580:D108Y;ENSP00000342830:D455Y;ENSP00000445826:D319Y;ENSP00000434788:D125Y	ENSP00000342830:D455Y	D	-	1	0	RDX	109609396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.861000	0.98227	0.650000	0.86243	GAC		0.383	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906	
LAYN	143903	broad.mit.edu	37	11	111431029	111431029	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:111431029A>C	ENST00000375615.3	+	8	1180	c.995A>C	c.(994-996)gAc>gCc	p.D332A	LAYN_ENST00000375614.2_Missense_Mutation_p.D324A|LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000436913.2_Missense_Mutation_p.D179A	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	332	Interaction with NF2. {ECO:0000250}.					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.D324A(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)	TGTGACTATGACAACATGGCT	0.493																																					p.D324A	Ovarian(17;551 586 12136 22082 22900)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A971C	11						.						150.0	128.0	135.0					11																	111431029		2201	4297	6498	110936239	SO:0001583	missense	143903	exon7				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.995A>C	11.37:g.111431029A>C	ENSP00000364765:p.Asp332Ala		110936239	NM_178834	A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	ENST00000375615.3	37	CCDS58178.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712790	0.89112	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000436913;ENST00000541011	T;T	0.05786	3.78;3.39	6.03	6.03	0.97812	.	0.188097	0.43747	D	0.000538	T	0.16342	0.0393	L	0.59436	1.845	0.49582	D	0.999803	P;P;P	0.51653	0.94;0.518;0.947	P;B;P	0.52957	0.714;0.255;0.676	T	0.00057	-1.2173	10	0.87932	D	0	-17.7143	15.5407	0.76043	1.0:0.0:0.0:0.0	.	179;332;324	B4DJU0;Q6UX15;Q6UX15-2	.;LAYN_HUMAN;.	A	324;332;179;287	ENSP00000364764:D324A;ENSP00000364765:D332A	ENSP00000364764:D324A	D	+	2	0	LAYN	110936239	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.721000	0.68477	2.308000	0.77769	0.533000	0.62120	GAC		0.493	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834	
DIXDC1	85458	broad.mit.edu	37	11	111835352	111835352	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:111835352G>A	ENST00000529225.1	+	3	417	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.R47Q|DIXDC1_ENST00000440460.2_Missense_Mutation_p.R47Q	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	47	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)	p.R47Q(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAGGACCTGCGACAAGATCTC	0.507																																					p.R47Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G140A	11						.						64.0	69.0	68.0					11																	111835352		1955	4156	6111	111340562	SO:0001583	missense	85458	exon2			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.137G>A	11.37:g.111835352G>A	ENSP00000434130:p.Arg46Gln		111340562	NM_001037954	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000529225.1	37		.	.	.	.	.	.	.	.	.	.	G	15.45	2.836843	0.50951	.	.	ENSG00000150764	ENST00000529225;ENST00000440460;ENST00000531396	T;T;T	0.58210	0.35;0.35;0.35	4.96	4.96	0.65561	Calponin homology domain (5);	0.000000	0.45867	D	0.000326	T	0.53174	0.1780	N	0.04148	-0.265	0.80722	D	1	D;D;D	0.76494	0.999;0.973;0.962	D;P;P	0.80764	0.994;0.632;0.515	T	0.65973	-0.6038	10	0.56958	D	0.05	-10.5589	18.3884	0.90474	0.0:0.0:1.0:0.0	.	47;47;46	Q155Q3;Q155Q3-4;E9PRV4	DIXC1_HUMAN;.;.	Q	46;47;47	ENSP00000434130:R46Q;ENSP00000394352:R47Q;ENSP00000432959:R47Q	ENSP00000394352:R47Q	R	+	2	0	DIXDC1	111340562	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.457000	0.80775	2.590000	0.87494	0.467000	0.42956	CGA		0.507	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954	
ANKK1	255239	broad.mit.edu	37	11	113265715	113265715	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:113265715C>T	ENST00000303941.3	+	3	639	c.545C>T	c.(544-546)tCg>tTg	p.S182L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S182L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ATCGAGAGGTCGGCTCTGCGG	0.552																																					p.S182L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C545T	11						.						53.0	52.0	53.0					11																	113265715		2006	4174	6180	112770925	SO:0001583	missense	255239	exon3			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.545C>T	11.37:g.113265715C>T	ENSP00000306678:p.Ser182Leu		112770925	NM_178510		Missense_Mutation	SNP	ENST00000303941.3	37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	8.401	0.841908	0.16963	.	.	ENSG00000170209	ENST00000303941	D	0.82984	-1.67	4.23	3.29	0.37713	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	U	0.000299	T	0.76615	0.4012	L	0.49256	1.55	0.35780	D	0.821604	P	0.42483	0.781	B	0.37989	0.262	T	0.78942	-0.2005	10	0.31617	T	0.26	-10.483	12.9353	0.58311	0.0:0.8355:0.1645:0.0	.	182	Q8NFD2	ANKK1_HUMAN	L	182	ENSP00000306678:S182L	ENSP00000306678:S182L	S	+	2	0	ANKK1	112770925	0.913000	0.31002	0.898000	0.35279	0.028000	0.11728	1.818000	0.39012	0.941000	0.37499	0.455000	0.32223	TCG		0.552	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	
USP28	57646	broad.mit.edu	37	11	113672326	113672326	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:113672326C>A	ENST00000003302.4	-	24	3005	c.2937G>T	c.(2935-2937)atG>atT	p.M979I	USP28_ENST00000544967.1_Missense_Mutation_p.M655I|USP28_ENST00000545540.1_Missense_Mutation_p.M822I|USP28_ENST00000260188.5_Missense_Mutation_p.M947I	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	979					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.M979I(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)		TCAGTTCATTCATCACATTAA	0.398																																					p.M979I	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2937T	11						.						143.0	116.0	125.0					11																	113672326		2201	4296	6497	113177536	SO:0001583	missense	57646	exon24			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.2937G>T	11.37:g.113672326C>A	ENSP00000003302:p.Met979Ile		113177536	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472831	0.63737	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.53857	1.18;1.18;0.6;1.19	5.62	4.71	0.59529	.	0.037562	0.85682	D	0.000000	T	0.53158	0.1779	L	0.60455	1.87	0.50467	D	0.999874	P;P;P	0.43024	0.696;0.761;0.798	B;B;B	0.43082	0.214;0.407;0.384	T	0.59904	-0.7366	10	0.72032	D	0.01	-26.0783	13.9487	0.64101	0.0:0.9276:0.0:0.0724	.	822;979;655	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	I	979;947;655;822	ENSP00000003302:M979I;ENSP00000260188:M947I;ENSP00000442431:M655I;ENSP00000444991:M822I	ENSP00000003302:M979I	M	-	3	0	USP28	113177536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.566000	0.67372	2.639000	0.89480	0.585000	0.79938	ATG		0.398	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
BUD13	84811	broad.mit.edu	37	11	116633616	116633616	+	Missense_Mutation	SNP	C	C	T	rs139478949		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:116633616C>T	ENST00000260210.4	-	4	712	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	230	Arg-rich.				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.R230Q(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)		ATGACGGGCTCGCCTAGGAGG	0.532																																					p.R230Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	11						.	C	,GLN/ARG	0,4402		0,0,2201	123.0	126.0	125.0		,689	2.2	0.0	11	dbSNP_134	125	1,8591	1.2+/-3.3	0,1,4295	no	intron,missense	BUD13	NM_001159736.1,NM_032725.3	,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,230/620	116633616	1,12993	2201	4296	6497	116138826	SO:0001583	missense	84811	exon4			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.689G>A	11.37:g.116633616C>T	ENSP00000260210:p.Arg230Gln		116138826	NM_032725	A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704552	0.30232	0.0	1.16E-4	ENSG00000137656	ENST00000260210	T	0.27557	1.66	5.08	2.18	0.27775	.	0.271172	0.41194	D	0.000924	T	0.26738	0.0654	M	0.74258	2.255	0.31247	N	0.694493	P;P	0.50369	0.934;0.934	B;B	0.34038	0.174;0.174	T	0.43442	-0.9391	9	.	.	.	-9.9463	10.4446	0.44486	0.0:0.7867:0.0:0.2133	.	230;230	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	Q	230	ENSP00000260210:R230Q	.	R	-	2	0	BUD13	116138826	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	0.776000	0.26704	0.739000	0.32628	0.655000	0.94253	CGA		0.532	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725	
ZPR1	8882	broad.mit.edu	37	11	116656573	116656573	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:116656573C>A	ENST00000227322.3	-	5	580	c.521G>T	c.(520-522)aGa>aTa	p.R174I		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		174					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)	p.R174I(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	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;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTCATCAATTCTTTCAGCTGT	0.483																																					p.R174I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G521T	11						.						171.0	143.0	153.0					11																	116656573		2201	4296	6497	116161783	SO:0001583	missense	8882	exon5																														ENST00000227322.3:c.521G>T	11.37:g.116656573C>A	ENSP00000227322:p.Arg174Ile		116161783	NM_003904	Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	CCDS8375.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.3|26.3|26.3	4.725364|4.725364|4.725364	0.89298|0.89298|0.89298	.|.|.	.|.|.	ENSG00000109917|ENSG00000109917|ENSG00000109917	ENST00000444935|ENST00000429220|ENST00000227322	.|.|T	.|.|0.47177	.|.|0.85	5.61|5.61|5.61	4.48|4.48|4.48	0.54585|0.54585|0.54585	.|.|Zinc finger, ZPR1-type (3);	.|.|0.079874	.|.|0.85682	.|.|D	.|.|0.000000	.|T|T	.|0.39937|0.39937	.|0.1097|0.1097	L|L|L	0.52011|0.52011|0.52011	1.625|1.625|1.625	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;P	.|.|0.39883	.|.|0.564;0.693	.|.|B;B	.|.|0.41374	.|.|0.242;0.355	.|T|T	.|0.42799|0.42799	.|-0.9430|-0.9430	.|5|10	.|.|0.72032	.|.|D	.|.|0.01	-6.4738|-6.4738|-6.4738	4.1595|4.1595|4.1595	0.10277|0.10277|0.10277	0.0:0.6884:0.0:0.3116|0.0:0.6884:0.0:0.3116|0.0:0.6884:0.0:0.3116	.|.|.	.|.|123;174	.|.|B4DVT8;O75312	.|.|.;ZPR1_HUMAN	X|N|I	174|116|174	.|.|ENSP00000227322:R174I	.|.|ENSP00000227322:R174I	E|K|R	-|-|-	1|3|2	0|2|0	ZNF259|ZNF259|ZNF259	116161783|116161783|116161783	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	5.009000|5.009000|5.009000	0.63998|0.63998|0.63998	2.808000|2.808000|2.808000	0.96608|0.96608|0.96608	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA		0.483	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2		
TAGLN	6876	broad.mit.edu	37	11	117073766	117073766	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:117073766G>A	ENST00000532870.1	+	1	1178	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	TAGLN_ENST00000392951.4_Missense_Mutation_p.E13K|PCSK7_ENST00000529458.1_5'Flank|TAGLN_ENST00000530649.1_Missense_Mutation_p.E13K			Q01995	TAGL_HUMAN	transgelin	13					epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)		p.E13K(1)		central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	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;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		CATGAGCCGCGAAGTGCAGTC	0.602																																					p.E13K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G37A	11						.						65.0	57.0	60.0					11																	117073766		2201	4296	6497	116578976	SO:0001583	missense	6876	exon2			M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.37G>A	11.37:g.117073766G>A	ENSP00000432282:p.Glu13Lys		116578976	NM_003186	O15542	Missense_Mutation	SNP	ENST00000532870.1	37	CCDS8381.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461670	0.84425	.	.	ENSG00000149591	ENST00000392951;ENST00000375278;ENST00000525531;ENST00000278968;ENST00000529792;ENST00000530649;ENST00000532870	T;T;T;T;T;T	0.59083	1.22;1.22;1.22;0.29;1.22;1.22	4.74	4.74	0.60224	.	0.153499	0.56097	D	0.000023	T	0.70159	0.3192	M	0.89968	3.075	0.54753	D	0.999989	D	0.61080	0.989	P	0.46253	0.509	T	0.79736	-0.1678	10	0.66056	D	0.02	.	17.2567	0.87059	0.0:0.0:1.0:0.0	.	13	Q01995	TAGL_HUMAN	K	13	ENSP00000376678:E13K;ENSP00000432054:E13K;ENSP00000278968:E13K;ENSP00000431862:E13K;ENSP00000431941:E13K;ENSP00000432282:E13K	ENSP00000278968:E13K	E	+	1	0	TAGLN	116578976	1.000000	0.71417	0.858000	0.33744	0.867000	0.49689	5.575000	0.67430	2.619000	0.88677	0.561000	0.74099	GAA		0.602	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522	
RNF214	257160	broad.mit.edu	37	11	117150908	117150908	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:117150908A>G	ENST00000531452.1	+	8	1124	c.1078A>G	c.(1078-1080)Aaa>Gaa	p.K360E	RNF214_ENST00000300650.4_Missense_Mutation_p.K360E|RNF214_ENST00000530849.1_Missense_Mutation_p.K205E|RNF214_ENST00000531287.1_Missense_Mutation_p.K205E	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	360							zinc ion binding (GO:0008270)	p.K360E(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGAGAGCCGGAAAGAGTTACT	0.363																																					p.K360E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1078G	11						.						137.0	127.0	130.0					11																	117150908		1824	4087	5911	116656118	SO:0001583	missense	257160	exon8			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1078A>G	11.37:g.117150908A>G	ENSP00000431643:p.Lys360Glu		116656118	NM_001077239	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182252	0.57800	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.37752	2.59;1.18;2.59;1.18	5.5	5.5	0.81552	.	0.278649	0.40818	N	0.001002	T	0.30978	0.0782	L	0.35723	1.085	0.37548	D	0.918569	B;B	0.06786	0.0;0.001	B;B	0.11329	0.003;0.006	T	0.13683	-1.0500	10	0.33141	T	0.24	-3.7433	15.0681	0.72011	1.0:0.0:0.0:0.0	.	205;360	B4DTD1;Q8ND24	.;RN214_HUMAN	E	205;360;205;360	ENSP00000435361:K205E;ENSP00000431643:K360E;ENSP00000432903:K205E;ENSP00000300650:K360E	ENSP00000300650:K360E	K	+	1	0	RNF214	116656118	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.133000	0.71682	2.205000	0.71048	0.533000	0.62120	AAA		0.363	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	
DSCAML1	57453	broad.mit.edu	37	11	117351210	117351210	+	Silent	SNP	G	G	A	rs149232264		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:117351210G>A	ENST00000321322.6	-	14	2914	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F	DSCAML1_ENST00000527706.1_Silent_p.F701F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	911	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.F971F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGTTCCCGTCGAATCGCTGGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19789	0.0		0.0	False		,,,				2504	0.001				p.F971F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2913T	11						.	G		0,4402		0,0,2201	68.0	69.0	69.0		2913	-2.6	1.0	11	dbSNP_134	69	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	DSCAML1	NM_020693.2		0,2,6495	AA,AG,GG		0.0233,0.0,0.0154		971/2114	117351210	2,12992	2201	4296	6497	116856420	SO:0001819	synonymous_variant	57453	exon14				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2913C>T	11.37:g.117351210G>A			116856420	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
TMPRSS13	84000	broad.mit.edu	37	11	117774772	117774772	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:117774772C>T	ENST00000430170.2	-	11	1513	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	TMPRSS13_ENST00000528626.1_Missense_Mutation_p.D441N|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.D476N|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.D476N	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	476	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D476N(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TTCTTGAAGTCGATGAGATTG	0.527																																					p.D476N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1426A	11						.						74.0	83.0	80.0					11																	117774772		2035	4190	6225	117279982	SO:0001583	missense	84000	exon11			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1426G>A	11.37:g.117774772C>T	ENSP00000387702:p.Asp476Asn		117279982	NM_001077263	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097864	0.76870	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	4.98	4.98	0.66077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.272209	0.31370	N	0.007772	T	0.59932	0.2230	L	0.31752	0.955	0.80722	D	1	D;P;D	0.71674	0.997;0.811;0.998	P;B;P	0.59948	0.735;0.185;0.866	T	0.61471	-0.7056	10	0.54805	T	0.06	.	11.74	0.51788	0.0:0.9181:0.0:0.0819	.	471;471;476	E9PHM4;Q9BYE2;E9PRA0	.;TMPSD_HUMAN;.	N	441;471;476;476;476	ENSP00000435813:D441N;ENSP00000434279:D476N;ENSP00000387702:D476N;ENSP00000394114:D476N	ENSP00000337113:D471N	D	-	1	0	TMPRSS13	117279982	0.998000	0.40836	0.998000	0.56505	0.755000	0.42902	3.158000	0.50723	2.489000	0.83994	0.551000	0.68910	GAC		0.527	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046	
SCN2B	6327	broad.mit.edu	37	11	118047121	118047121	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:118047121C>T	ENST00000278947.5	-	1	267	c.26G>A	c.(25-27)cGc>cAc	p.R9H		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	9					cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R9H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	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;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAGGCAGGGCGAGGTAGCCA	0.542																																					p.R9H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G26A	11						.						132.0	122.0	126.0					11																	118047121		2200	4296	6496	117552331	SO:0001583	missense	6327	exon1			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.26G>A	11.37:g.118047121C>T	ENSP00000278947:p.Arg9His		117552331	NM_004588	O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007789	0.54361	.	.	ENSG00000149575	ENST00000278947	D	0.97209	-4.29	5.9	4.93	0.64822	.	0.567626	0.18374	N	0.143167	D	0.91432	0.7296	N	0.22421	0.69	0.29904	N	0.824122	P	0.42337	0.776	B	0.34590	0.186	D	0.88373	0.2996	10	0.44086	T	0.13	-28.16	7.6421	0.28300	0.0:0.7489:0.1663:0.0847	.	9	O60939	SCN2B_HUMAN	H	9	ENSP00000278947:R9H	ENSP00000278947:R9H	R	-	2	0	SCN2B	117552331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.189000	0.32114	2.793000	0.96121	0.591000	0.81541	CGC		0.542	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588	
KMT2A	4297	broad.mit.edu	37	11	118373768	118373768	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:118373768T>A	ENST00000389506.5	+	27	7152	c.7152T>A	c.(7150-7152)gaT>gaA	p.D2384E	KMT2A_ENST00000354520.4_Missense_Mutation_p.D2346E|KMT2A_ENST00000534358.1_Missense_Mutation_p.D2387E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2384					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.D2384E(1)									AACACACAGATTCTACCCAAT	0.443																																					p.D2384E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7152A	11						.						89.0	88.0	89.0					11																	118373768		2200	4296	6496	117878978	SO:0001583	missense	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7152T>A	11.37:g.118373768T>A	ENSP00000374157:p.Asp2384Glu		117878978	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	T	7.984	0.751820	0.15778	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;T	0.81499	-1.5;-1.5;-1.46	5.18	-4.63	0.03359	.	0.430102	0.27240	N	0.020276	T	0.47710	0.1460	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34950	-0.9808	10	0.32370	T	0.25	.	2.301	0.04162	0.1993:0.337:0.0936:0.37	.	2387;2384	E9PQG7;Q03164	.;MLL1_HUMAN	E	2387;2384;2346;1294	ENSP00000436786:D2387E;ENSP00000374157:D2384E;ENSP00000346516:D2346E	ENSP00000346516:D2346E	D	+	3	2	MLL	117878978	0.070000	0.21116	0.000000	0.03702	0.874000	0.50279	0.133000	0.15912	-0.752000	0.04728	0.455000	0.32223	GAT		0.443	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
DDX6	1656	broad.mit.edu	37	11	118626184	118626184	+	Missense_Mutation	SNP	T	T	G	rs552213775		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:118626184T>G	ENST00000526070.2	-	12	1563	c.1203A>C	c.(1201-1203)caA>caC	p.Q401H	DDX6_ENST00000534980.1_Missense_Mutation_p.Q401H|DDX6_ENST00000264018.4_Missense_Mutation_p.Q401H	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	401	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.Q390H(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)		CATTCACAGCTTGTATATCAA	0.323			T	IGH@	B-NHL																																p.Q401H			Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1203C	11						.						88.0	81.0	83.0					11																	118626184		1806	4063	5869	118131394	SO:0001583	missense	1656	exon12			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.1203A>C	11.37:g.118626184T>G	ENSP00000433704:p.Gln401His		118131394	NM_004397	Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896382	0.72639	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.05025	3.51;3.51;3.51	5.39	5.39	0.77823	Helicase, C-terminal (3);	0.049192	0.85682	D	0.000000	T	0.14056	0.0340	N	0.25060	0.705	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.03608	-1.1020	10	0.87932	D	0	.	15.38	0.74648	0.0:0.0:0.0:1.0	.	401	P26196	DDX6_HUMAN	H	401	ENSP00000264018:Q401H;ENSP00000442266:Q401H;ENSP00000433704:Q401H	ENSP00000264018:Q401H	Q	-	3	2	DDX6	118131394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.287000	0.51732	2.171000	0.68590	0.528000	0.53228	CAA		0.323	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	
CXCR5	643	broad.mit.edu	37	11	118765242	118765242	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:118765242G>A	ENST00000292174.4	+	2	1165	c.989G>A	c.(988-990)cGc>cAc	p.R330H	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	330					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)	p.R330H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GTGAAGTTCCGCAGTGACCTG	0.632																																					p.R285H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G854A	11						.						84.0	73.0	77.0					11																	118765242		2200	4295	6495	118270452	SO:0001583	missense	643	exon1			X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.989G>A	11.37:g.118765242G>A	ENSP00000292174:p.Arg330His		118270452	NM_032966	Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451094	0.84209	.	.	ENSG00000160683	ENST00000292174	T	0.58358	0.34	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.71600	0.3359	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76759	-0.2841	10	0.87932	D	0	.	16.6875	0.85312	0.0:0.0:1.0:0.0	.	330	P32302	CXCR5_HUMAN	H	330	ENSP00000292174:R330H	ENSP00000292174:R330H	R	+	2	0	CXCR5	118270452	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.726000	0.84824	2.143000	0.66587	0.407000	0.27541	CGC		0.632	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716	
CCDC84	338657	broad.mit.edu	37	11	118882964	118882964	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:118882964G>A	ENST00000334418.1	+	7	740	c.684G>A	c.(682-684)caG>caA	p.Q228Q	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	228								p.Q228Q(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TTGGCCATCAGGTACAAAGGA	0.522																																					p.Q228Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G684A	11						.						73.0	64.0	67.0					11																	118882964		2200	4295	6495	118388174	SO:0001630	splice_region_variant	338657	exon7			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.684+1G>A	11.37:g.118882964G>A			118388174	NM_198489		Silent	SNP	ENST00000334418.1	37	CCDS8405.1																																																																																				0.522	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489	Silent
USP47	55031	broad.mit.edu	37	11	11964232	11964232	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:11964232C>T	ENST00000399455.2	+	21	2844	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	USP47_ENST00000339865.5_Silent_p.I820I|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.I888I	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	908					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.I820I(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTGAAAACATCGAATCACCTC	0.413																																					p.I820I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2460T	11						.						74.0	70.0	72.0					11																	11964232		1938	4130	6068	11920808	SO:0001819	synonymous_variant	55031	exon19			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2724C>T	11.37:g.11964232C>T			11920808	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37																																																																																					0.413	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
TRAPPC4	51399	broad.mit.edu	37	11	118896762	118896762	+	IGR	SNP	C	C	T	rs193302903		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:118896762C>T	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000545985.1_Missense_Mutation_p.R300H|SLC37A4_ENST00000357590.5_Missense_Mutation_p.R300H|SLC37A4_ENST00000330775.7_Missense_Mutation_p.R299H|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.R227H	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAGGCCATGGCGAGGGTTCCC	0.557																																					p.S300S												.	.	0			c.G900A	11						.						65.0	73.0	70.0					11																	118896762		2097	4226	6323	118401972	SO:0001628	intergenic_variant	2542	exon8			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118896762C>T			118401972	NM_001164278	A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1																																																																																				0.557	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146	
POU2F3	25833	broad.mit.edu	37	11	120117184	120117184	+	Missense_Mutation	SNP	G	G	A	rs201020292		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:120117184G>A	ENST00000543440.2	+	2	205	c.55G>A	c.(55-57)Gat>Aat	p.D19N	POU2F3_ENST00000260264.4_Missense_Mutation_p.D21N	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	19					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.D19N(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGATGTAGCCGATTCCACGGA	0.483																																					p.D19N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55A	11						.	G	ASN/ASP	0,4406		0,0,2203	122.0	115.0	117.0		55	5.2	0.9	11		117	1,8599	1.2+/-3.3	0,1,4299	yes	missense	POU2F3	NM_014352.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	19/437	120117184	1,13005	2203	4300	6503	119622394	SO:0001583	missense	25833	exon2			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.55G>A	11.37:g.120117184G>A	ENSP00000441687:p.Asp19Asn		119622394	NM_014352	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740511	0.49045	0.0	1.16E-4	ENSG00000137709	ENST00000543440;ENST00000260264	D;D	0.84730	-1.89;-1.89	5.22	5.22	0.72569	.	.	.	.	.	D	0.83672	0.5305	N	0.14661	0.345	0.36709	D	0.880555	D	0.76494	0.999	D	0.75020	0.985	T	0.79424	-0.1809	9	0.06494	T	0.89	.	16.9624	0.86275	0.0:0.0:1.0:0.0	.	19	Q9UKI9	PO2F3_HUMAN	N	21;19	ENSP00000441687:D21N;ENSP00000260264:D19N	ENSP00000260264:D19N	D	+	1	0	POU2F3	119622394	1.000000	0.71417	0.938000	0.37757	0.877000	0.50540	3.459000	0.53021	2.443000	0.82685	0.563000	0.77884	GAT		0.483	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		
ARHGEF12	23365	broad.mit.edu	37	11	120346165	120346165	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:120346165T>C	ENST00000397843.2	+	33	3392	c.3226T>C	c.(3226-3228)Ttt>Ctt	p.F1076L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F973L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F1057L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1076	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.F1076L(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)		CAAACACACGTTTAGCCCTGT	0.403			T	MLL	AML																																p.F1057L			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3169C	11						.						204.0	187.0	193.0					11																	120346165		1996	4172	6168	119851375	SO:0001583	missense	23365	exon32			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.3226T>C	11.37:g.120346165T>C	ENSP00000380942:p.Phe1076Leu		119851375	NM_001198665	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161336	0.57368	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.45668	0.89;0.89;0.89	5.0	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.50627	D	0.000108	T	0.55289	0.1911	L	0.39147	1.195	0.80722	D	1	P;D;D	0.89917	0.803;1.0;1.0	B;D;D	0.91635	0.352;0.999;0.997	T	0.54695	-0.8255	10	0.44086	T	0.13	-12.7969	15.0128	0.71562	0.0:0.0:0.0:1.0	.	973;1057;1076	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	1076;1057;973	ENSP00000380942:F1076L;ENSP00000349056:F1057L;ENSP00000432984:F973L	ENSP00000349056:F1057L	F	+	1	0	ARHGEF12	119851375	1.000000	0.71417	0.575000	0.28536	0.218000	0.24690	7.867000	0.87062	1.993000	0.58246	0.533000	0.62120	TTT		0.403	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
GRIK4	2900	broad.mit.edu	37	11	120702676	120702676	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:120702676C>T	ENST00000527524.2	+	7	914	c.627C>T	c.(625-627)gaC>gaT	p.D209D	GRIK4_ENST00000438375.2_Silent_p.D209D	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	209					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.D209D(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)		AGATCCGGGACGACAAGACCG	0.632																																					p.D209D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C627T	11						.						124.0	109.0	114.0					11																	120702676		2203	4299	6502	120207886	SO:0001819	synonymous_variant	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.627C>T	11.37:g.120702676C>T			120207886	NM_014619	A8K9L1	Silent	SNP	ENST00000527524.2	37	CCDS8433.1																																																																																				0.632	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
GRIK4	2900	broad.mit.edu	37	11	120833230	120833230	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:120833230C>T	ENST00000527524.2	+	18	2393	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	GRIK4_ENST00000438375.2_Silent_p.F702F	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	702					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.F702F(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)		CCAGCGTGTTCGTGAAGAGCA	0.502																																					p.F702F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2106T	11						.						77.0	69.0	72.0					11																	120833230		2203	4299	6502	120338440	SO:0001819	synonymous_variant	2900	exon16			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.2106C>T	11.37:g.120833230C>T			120338440	NM_014619	A8K9L1	Silent	SNP	ENST00000527524.2	37	CCDS8433.1																																																																																				0.502	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
SORL1	6653	broad.mit.edu	37	11	121348842	121348842	+	Missense_Mutation	SNP	G	G	A	rs140888526		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:121348842G>A	ENST00000260197.7	+	3	547	c.418G>A	c.(418-420)Gac>Aac	p.D140N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	140					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.D140N(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGTGTCTTACGACTATGGAAA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		20833	0.0		0.001	False		,,,				2504	0.0				p.D140N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418A	11						.	G	ASN/ASP	0,4406		0,0,2203	94.0	96.0	95.0		418	5.4	1.0	11	dbSNP_134	95	1,8597	1.2+/-3.3	0,1,4298	yes	missense	SORL1	NM_003105.5	23	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	140/2215	121348842	1,13003	2203	4299	6502	120854052	SO:0001583	missense	6653	exon3			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.418G>A	11.37:g.121348842G>A	ENSP00000260197:p.Asp140Asn		120854052	NM_003105	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.4	4.631002	0.87660	0.0	1.16E-4	ENSG00000137642	ENST00000260197	T	0.60797	0.16	5.4	5.4	0.78164	VPS10 (1);	0.105145	0.64402	D	0.000006	T	0.72455	0.3462	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.72261	-0.4345	10	0.49607	T	0.09	.	19.2408	0.93881	0.0:0.0:1.0:0.0	.	140	Q92673	SORL_HUMAN	N	140	ENSP00000260197:D140N	ENSP00000260197:D140N	D	+	1	0	SORL1	120854052	1.000000	0.71417	0.961000	0.40146	0.555000	0.35460	7.588000	0.82629	2.526000	0.85167	0.558000	0.71614	GAC		0.373	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
ZNF202	7753	broad.mit.edu	37	11	123601390	123601390	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:123601390T>C	ENST00000529691.1	-	2	426	c.207A>G	c.(205-207)gaA>gaG	p.E69E	ZNF202_ENST00000336139.4_Silent_p.E69E|ZNF202_ENST00000530393.1_Silent_p.E69E			O95125	ZN202_HUMAN	zinc finger protein 202	69	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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.E69E(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	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;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GGTGACAAAGTTCTCGGAGTC	0.552																																					p.E69E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A207G	11						.						101.0	99.0	100.0					11																	123601390		2202	4299	6501	123106600	SO:0001819	synonymous_variant	7753	exon4			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.207A>G	11.37:g.123601390T>C			123106600	NM_003455	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	CCDS8443.1																																																																																				0.552	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455	
OR6X1	390260	broad.mit.edu	37	11	123624902	123624902	+	Missense_Mutation	SNP	C	C	T	rs573024245		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:123624902C>T	ENST00000327930.2	-	1	351	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E109K(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)		ATCAAGAACTCGGTGGTGCCC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17584	0.001		0.0	False		,,,				2504	0.0				p.E109K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G325A	11						.						151.0	148.0	149.0					11																	123624902		2202	4299	6501	123130112	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.325G>A	11.37:g.123624902C>T	ENSP00000333724:p.Glu109Lys		123130112	NM_001005188	B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297705	0.60086	.	.	ENSG00000221931	ENST00000327930	T	0.40225	1.04	4.34	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42200	0.1192	M	0.88842	2.985	0.09310	N	1	P	0.49253	0.921	B	0.28916	0.096	T	0.51631	-0.8681	9	0.87932	D	0	-7.043	9.9595	0.41688	0.0:0.8994:0.0:0.1006	.	109	Q8NH79	OR6X1_HUMAN	K	109	ENSP00000333724:E109K	ENSP00000333724:E109K	E	-	1	0	OR6X1	123130112	0.968000	0.33430	0.610000	0.28997	0.894000	0.52154	7.380000	0.79704	1.057000	0.40506	0.650000	0.86243	GAG		0.527	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188	
OR6X1	390260	broad.mit.edu	37	11	123625050	123625050	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:123625050G>T	ENST00000327930.2	-	1	203	c.177C>A	c.(175-177)ttC>ttA	p.F59L		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F59L(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)		TACAAAGGAAGAAGTACATTG	0.428																																					p.F59L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C177A	11						.						107.0	104.0	105.0					11																	123625050		2202	4299	6501	123130260	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.177C>A	11.37:g.123625050G>T	ENSP00000333724:p.Phe59Leu		123130260	NM_001005188	B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431631	0.62844	.	.	ENSG00000221931	ENST00000327930	T	0.00551	6.65	4.19	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00695	0.0023	M	0.80183	2.485	0.31485	N	0.666654	B	0.30824	0.296	B	0.26310	0.068	T	0.19128	-1.0315	9	0.66056	D	0.02	-19.7859	3.6918	0.08348	0.1904:0.0:0.6063:0.2032	.	59	Q8NH79	OR6X1_HUMAN	L	59	ENSP00000333724:F59L	ENSP00000333724:F59L	F	-	3	2	OR6X1	123130260	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	0.158000	0.16422	0.413000	0.25759	0.650000	0.86243	TTC		0.428	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188	
OR8D4	338662	broad.mit.edu	37	11	123777153	123777153	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:123777153C>A	ENST00000321355.2	+	1	45	c.15C>A	c.(13-15)aaC>aaA	p.N5K		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5K(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GTGTAAAAAACCATTCCACAG	0.378																																					p.N5K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C15A	11						.						61.0	58.0	59.0					11																	123777153		2202	4299	6501	123282363	SO:0001583	missense	338662	exon1			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.15C>A	11.37:g.123777153C>A	ENSP00000325381:p.Asn5Lys		123282363	NM_001005197	Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280798	0.40294	.	.	ENSG00000181518	ENST00000321355	T	0.02158	4.42	5.58	-5.43	0.02632	.	0.000000	0.49916	D	0.000132	T	0.06645	0.0170	M	0.92077	3.27	0.21147	N	0.999775	P	0.40553	0.721	B	0.40134	0.32	T	0.09509	-1.0671	10	0.87932	D	0	.	17.6052	0.88036	0.0:0.7318:0.0:0.2682	.	5	Q8NGM9	OR8D4_HUMAN	K	5	ENSP00000325381:N5K	ENSP00000325381:N5K	N	+	3	2	OR8D4	123282363	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.637000	0.00866	-1.227000	0.02571	-0.302000	0.09304	AAC		0.378	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197	
OR4D5	219875	broad.mit.edu	37	11	123810599	123810599	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:123810599T>C	ENST00000307033.2	+	1	350	c.276T>C	c.(274-276)atT>atC	p.I92I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I92I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		ACCCTACCATTTCCTTTGGTG	0.473																																					p.I92I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T276C	11						.						145.0	121.0	129.0					11																	123810599		2202	4299	6501	123315809	SO:0001819	synonymous_variant	219875	exon1			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.276T>C	11.37:g.123810599T>C			123315809	NM_001001965	B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	CCDS31699.1																																																																																				0.473	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
MICALCL	84953	broad.mit.edu	37	11	12376378	12376378	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:12376378A>C	ENST00000256186.2	+	8	2168	c.1877A>C	c.(1876-1878)aAa>aCa	p.K626T		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	626					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.K626T(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)		CTGGAGCAGAAACTGAGAGAG	0.453																																					p.K626T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1877C	11						.						75.0	74.0	75.0					11																	12376378		1876	4117	5993	12332954	SO:0001583	missense	84953	exon8			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.1877A>C	11.37:g.12376378A>C	ENSP00000256186:p.Lys626Thr		12332954	NM_032867	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056474	0.76074	.	.	ENSG00000133808	ENST00000256186	T	0.43688	0.94	5.81	4.67	0.58626	Domain of unknown function DUF3585 (1);	0.000000	0.31760	U	0.007119	T	0.48077	0.1480	L	0.41236	1.265	0.28951	N	0.890421	P	0.50156	0.932	P	0.58820	0.846	T	0.45877	-0.9231	10	0.66056	D	0.02	.	8.161	0.31198	0.7265:0.1399:0.0:0.1335	.	626	Q6ZW33	MICLK_HUMAN	T	626	ENSP00000256186:K626T	ENSP00000256186:K626T	K	+	2	0	MICALCL	12332954	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	4.390000	0.59646	0.999000	0.39023	0.533000	0.62120	AAA		0.453	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867	
OR6T1	219874	broad.mit.edu	37	11	123814380	123814380	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:123814380G>A	ENST00000321252.2	-	1	200	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H56Y(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)		ATCTGTATGTGCAGGCGTTGG	0.498																																					p.H56Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C166T	11						.						131.0	121.0	124.0					11																	123814380		2202	4299	6501	123319590	SO:0001583	missense	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.166C>T	11.37:g.123814380G>A	ENSP00000325203:p.His56Tyr		123319590	NM_001005187	Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065991	0.36470	.	.	ENSG00000181499	ENST00000321252	T	0.15952	2.38	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24812	0.0602	M	0.79343	2.45	0.27770	N	0.943532	B	0.26876	0.162	B	0.23275	0.045	T	0.12502	-1.0545	9	0.66056	D	0.02	-27.9233	14.1652	0.65473	0.0:0.0:1.0:0.0	.	56	Q8NGN1	OR6T1_HUMAN	Y	56	ENSP00000325203:H56Y	ENSP00000325203:H56Y	H	-	1	0	OR6T1	123319590	0.995000	0.38212	0.999000	0.59377	0.608000	0.37181	2.297000	0.43593	1.918000	0.55548	0.655000	0.94253	CAC		0.498	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187	
OR10G7	390265	broad.mit.edu	37	11	123909127	123909127	+	Silent	SNP	G	G	A	rs386758387|rs147011748	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:123909127G>A	ENST00000330487.5	-	1	590	c.582C>T	c.(580-582)aaC>aaT	p.N194N		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N194N(1)|p.N194K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		TGACCATCTCGTTGGCTGAGG	0.537																																					p.N194N												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)	c.C582T	11						.	G		0,4402		0,0,2201	252.0	234.0	240.0		582	-6.8	0.0	11	dbSNP_134	240	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous	OR10G7	NM_001004463.1		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		194/312	123909127	1,12999	2201	4299	6500	123414337	SO:0001819	synonymous_variant	390265	exon1			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.582C>T	11.37:g.123909127G>A			123414337	NM_001004463	Q6IFE8	Silent	SNP	ENST00000330487.5	37	CCDS31705.1																																																																																				0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463	
OR8B2	26595	broad.mit.edu	37	11	124252919	124252919	+	Silent	SNP	G	G	A	rs2320234	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:124252919G>A	ENST00000375013.2	-	1	339	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F107F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACGAAAAAGAGAA	0.398													g|||	3	0.000599042	0.0015	0.0	5008	,	,		21815	0.0		0.0	False		,,,				2504	0.001				p.F107F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	11						.						85.0	86.0	86.0					11																	124252919		2201	4299	6500	123758129	SO:0001819	synonymous_variant	26595	exon1			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.321C>T	11.37:g.124252919G>A			123758129	NM_001005468	Q8NGH2	Silent	SNP	ENST00000375013.2	37	CCDS31708.1																																																																																				0.398	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468	
SIAE	54414	broad.mit.edu	37	11	124530643	124530643	+	Missense_Mutation	SNP	C	C	T	rs375087861		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:124530643C>T	ENST00000263593.3	-	3	458	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	SIAE_ENST00000545756.1_Missense_Mutation_p.E61K			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	96					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.E96K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GCCATCACTTCGAAAGGTCCT	0.438																																					p.E96K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	11						.	C	LYS/GLU,LYS/GLU	2,4400	4.2+/-10.8	0,2,2199	208.0	199.0	202.0		181,286	3.8	0.9	11		202	0,8598		0,0,4299	no	missense,missense	SIAE	NM_001199922.1,NM_170601.4	56,56	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	61/489,96/524	124530643	2,12998	2201	4299	6500	124035853	SO:0001583	missense	54414	exon3			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.286G>A	11.37:g.124530643C>T	ENSP00000263593:p.Glu96Lys		124035853	NM_170601	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	7.768	0.706887	0.15239	4.54E-4	0.0	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.84070	-1.8;-1.79	5.94	3.77	0.43336	.	0.593501	0.18116	N	0.151200	T	0.68796	0.3040	L	0.35542	1.07	0.19775	N	0.999959	B;B	0.12630	0.006;0.001	B;B	0.10450	0.005;0.002	T	0.50189	-0.8857	10	0.11794	T	0.64	-16.6786	5.1604	0.15058	0.1625:0.6164:0.0:0.221	.	61;96	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	K	96;61	ENSP00000263593:E96K;ENSP00000437877:E61K	ENSP00000263593:E96K	E	-	1	0	SIAE	124035853	0.001000	0.12720	0.903000	0.35520	0.936000	0.57629	-0.032000	0.12266	1.522000	0.49001	0.591000	0.81541	GAA		0.438	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601	
ROBO4	54538	broad.mit.edu	37	11	124763897	124763897	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:124763897G>A	ENST00000306534.3	-	9	1848	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.P310S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	455					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P455S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGGTCCAGGGACCATGCTCA	0.632																																					p.P455S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1363T	11						.						36.0	33.0	34.0					11																	124763897		2201	4299	6500	124269107	SO:0001583	missense	54538	exon9			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1363C>T	11.37:g.124763897G>A	ENSP00000304945:p.Pro455Ser		124269107	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952142	0.18431	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.62364	0.03;0.41	4.9	-1.75	0.08031	.	1.563900	0.04186	N	0.327417	T	0.48352	0.1495	L	0.36672	1.1	0.09310	N	1	B;B;B	0.16603	0.001;0.018;0.013	B;B;B	0.14578	0.005;0.011;0.007	T	0.13255	-1.0516	10	0.25751	T	0.34	.	5.2027	0.15273	0.4304:0.1434:0.4262:0.0	.	455;345;455	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	S	455;345;310	ENSP00000304945:P455S;ENSP00000437129:P310S	ENSP00000304945:P455S	P	-	1	0	ROBO4	124269107	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.092000	0.11129	-0.732000	0.04856	0.561000	0.74099	CCC		0.632	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
ROBO4	54538	broad.mit.edu	37	11	124764164	124764164	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:124764164G>A	ENST00000306534.3	-	8	1736	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Silent_p.C272C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	417	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C417C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCACTTGCACGCAGTAGGAGC	0.602																																					p.C417C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1251T	11						.						98.0	78.0	85.0					11																	124764164		2201	4299	6500	124269374	SO:0001819	synonymous_variant	54538	exon8			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1251C>T	11.37:g.124764164G>A			124269374	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	CCDS8455.1																																																																																				0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
SLC37A2	219855	broad.mit.edu	37	11	124949032	124949032	+	Silent	SNP	G	G	A	rs139846340	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:124949032G>A	ENST00000403796.2	+	5	640	c.339G>A	c.(337-339)ccG>ccA	p.P113P	SLC37A2_ENST00000407458.1_Silent_p.P113P|SLC37A2_ENST00000308074.4_Silent_p.P113P|SLC37A2_ENST00000298280.5_Silent_p.P113P	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	113					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.P113P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		AGCGGCTTCCGCTCCGTTACT	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19981	0.0		0.0	False		,,,				2504	0.0				p.P113P	Melanoma(11;373 620 21213 26083 47768)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	11						.						146.0	145.0	145.0					11																	124949032		2201	4299	6500	124454242	SO:0001819	synonymous_variant	219855	exon5			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.339G>A	11.37:g.124949032G>A			124454242	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	CCDS44757.1																																																																																				0.542	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184	
CDON	50937	broad.mit.edu	37	11	125864243	125864243	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:125864243A>C	ENST00000392693.3	-	14	2713	c.2586T>G	c.(2584-2586)ttT>ttG	p.F862L	CDON_ENST00000531738.1_Missense_Mutation_p.F239L|CDON_ENST00000263577.7_Missense_Mutation_p.F862L	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	862	Fibronectin type-III 3. {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.F862L(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)		AATAGATATAAAATCCTTGAA	0.378																																					p.F862L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2586G	11						.						110.0	102.0	104.0					11																	125864243		2201	4299	6500	125369453	SO:0001583	missense	50937	exon14			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.2586T>G	11.37:g.125864243A>C	ENSP00000376458:p.Phe862Leu		125369453	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303101	0.81136	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.56275	0.47;0.47;0.47	5.56	2.0	0.26442	Fibronectin, type III (4);	0.000000	0.56097	D	0.000038	T	0.69895	0.3162	M	0.80183	2.485	0.48696	D	0.999699	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71397	-0.4605	10	0.87932	D	0	-28.4721	10.1434	0.42749	0.7242:0.0:0.2758:0.0	.	862;862;239	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	L	862;239;862	ENSP00000376458:F862L;ENSP00000432901:F239L;ENSP00000263577:F862L	ENSP00000263577:F862L	F	-	3	2	CDON	125369453	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.863000	0.39459	0.503000	0.28060	0.482000	0.46254	TTT		0.378	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
CDON	50937	broad.mit.edu	37	11	125893317	125893317	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:125893317G>A	ENST00000392693.3	-	2	182	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	CDON_ENST00000263577.7_Silent_p.L19L	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	19					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.L19L(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)		GAAGAGCACAGAATTGTAAGA	0.428																																					p.L19L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C55T	11						.						136.0	134.0	135.0					11																	125893317		2201	4299	6500	125398527	SO:0001819	synonymous_variant	50937	exon2			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.55C>T	11.37:g.125893317G>A			125398527	NM_016952	O14631	Silent	SNP	ENST00000392693.3	37	CCDS58192.1																																																																																				0.428	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
PRDM10	56980	broad.mit.edu	37	11	129784872	129784872	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:129784872G>A	ENST00000360871.3	-	17	2799	c.2568C>T	c.(2566-2568)ttC>ttT	p.F856F	PRDM10_ENST00000304538.6_Silent_p.F770F|PRDM10_ENST00000528746.1_Silent_p.F830F|PRDM10_ENST00000526082.1_Silent_p.F774F|PRDM10_ENST00000423662.2_Silent_p.F774F|PRDM10_ENST00000358825.5_Silent_p.F860F	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	860					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.F856F(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGAGCTGGGCGAACTCTGGAT	0.468																																					p.F860F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2580T	11						.						125.0	122.0	123.0					11																	129784872		2201	4297	6498	129290082	SO:0001819	synonymous_variant	56980	exon18			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2568C>T	11.37:g.129784872G>A			129290082	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																				0.468	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
PRDM10	56980	broad.mit.edu	37	11	129805026	129805026	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:129805026G>T	ENST00000360871.3	-	9	1358	c.1127C>A	c.(1126-1128)tCt>tAt	p.S376Y	PRDM10_ENST00000304538.6_Missense_Mutation_p.S290Y|PRDM10_ENST00000528746.1_Missense_Mutation_p.S350Y|PRDM10_ENST00000526082.1_Missense_Mutation_p.S290Y|PRDM10_ENST00000423662.2_Missense_Mutation_p.S290Y|PRDM10_ENST00000358825.5_Missense_Mutation_p.S376Y	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S376Y(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTCATCATGAGAATTGAGATG	0.418																																					p.S376Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1127A	11						.						176.0	160.0	165.0					11																	129805026		2201	4297	6498	129310236	SO:0001583	missense	56980	exon9			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1127C>A	11.37:g.129805026G>T	ENSP00000354118:p.Ser376Tyr		129310236	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.280519	0.80692	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10860	2.85;2.85;2.85;2.83;2.9;2.83;2.92	5.11	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134143	0.53938	D	0.000045	T	0.33702	0.0872	M	0.74258	2.255	0.45528	D	0.998482	D;D;D;D;D;D;D	0.71674	0.998;0.995;0.994;0.996;0.998;0.986;0.987	D;P;P;P;D;P;P	0.66979	0.948;0.77;0.878;0.852;0.914;0.808;0.693	T	0.03981	-1.0987	10	0.48119	T	0.1	-20.3793	18.5264	0.90974	0.0:0.0:1.0:0.0	.	290;376;376;376;290;290;290	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	Y	376;290;376;290;350;290;93	ENSP00000351686:S376Y;ENSP00000302669:S290Y;ENSP00000354118:S376Y;ENSP00000398431:S290Y;ENSP00000431262:S350Y;ENSP00000432237:S290Y;ENSP00000435940:S93Y	ENSP00000302669:S290Y	S	-	2	0	PRDM10	129310236	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.943000	0.75934	2.401000	0.81631	0.486000	0.48141	TCT		0.418	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
APLP2	334	broad.mit.edu	37	11	130011465	130011465	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:130011465C>T	ENST00000263574.5	+	16	2104	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	APLP2_ENST00000338167.5_Missense_Mutation_p.R666W|APLP2_ENST00000539648.1_Missense_Mutation_p.R466W|APLP2_ENST00000278756.7_Missense_Mutation_p.R676W|APLP2_ENST00000543137.1_Missense_Mutation_p.R573W|APLP2_ENST00000528499.1_Missense_Mutation_p.R610W|APLP2_ENST00000345598.5_Missense_Mutation_p.R437W	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	678					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.R678W(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CGAGGAAGAGCGGGTACGTGT	0.478																																					p.R678W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2032T	11						.						106.0	103.0	104.0					11																	130011465		2201	4297	6498	129516675	SO:0001583	missense	334	exon16			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.2032C>T	11.37:g.130011465C>T	ENSP00000263574:p.Arg678Trp		129516675	NM_001642	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861757	0.91433	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94280	-3.39;-3.22;-1.74;-3.39;-1.89;-1.9;-1.88	6.17	6.17	0.99709	.	0.174221	0.51477	D	0.000098	D	0.90055	0.6894	N	0.08118	0	0.40436	D	0.979992	P;D;D;P;D;P;D	0.60160	0.956;0.987;0.983;0.921;0.971;0.927;0.979	B;B;P;B;B;B;B	0.51777	0.319;0.394;0.679;0.142;0.376;0.292;0.409	D	0.89120	0.3502	9	.	.	.	-20.8441	19.8676	0.96824	0.0:1.0:0.0:0.0	.	466;678;622;437;604;610;666	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	W	610;466;678;437;666;676;573	ENSP00000435914:R610W;ENSP00000443728:R466W;ENSP00000263574:R678W;ENSP00000263575:R437W;ENSP00000345444:R666W;ENSP00000278756:R676W;ENSP00000444122:R573W	.	R	+	1	2	APLP2	129516675	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.768000	0.62293	2.941000	0.99782	0.655000	0.94253	CGG		0.478	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
ADAMTS8	11095	broad.mit.edu	37	11	130275922	130275922	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:130275922G>A	ENST00000257359.6	-	9	2907	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	734	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A734V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CGTCTTCAGCGCCAGGTAGTT	0.557																																					p.A734V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2201T	11						.						84.0	85.0	85.0					11																	130275922		2118	4228	6346	129781132	SO:0001583	missense	11095	exon9			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2201C>T	11.37:g.130275922G>A	ENSP00000257359:p.Ala734Val		129781132	NM_007037	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336976	0.81801	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.63255	-0.03	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	D	0.82724	0.5099	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.899;1.0	D	0.85614	0.1260	10	0.72032	D	0.01	.	19.0627	0.93099	0.0:0.0:1.0:0.0	.	734;215	Q9UP79;B3KVX9	ATS8_HUMAN;.	V	132;734;763	ENSP00000257359:A734V	ENSP00000257359:A734V	A	-	2	0	ADAMTS8	129781132	1.000000	0.71417	0.950000	0.38849	0.209000	0.24338	7.654000	0.83653	2.499000	0.84300	0.467000	0.42956	GCG		0.557	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
ADAMTS8	11095	broad.mit.edu	37	11	130278505	130278505	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:130278505T>G	ENST00000257359.6	-	8	2659	c.1953A>C	c.(1951-1953)gaA>gaC	p.E651D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	651	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E651D(1)|p.P651P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGCCAGTGTTTCTGGCCCAC	0.642																																					p.E651D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.A1953C	11						.						49.0	54.0	52.0					11																	130278505		2057	4176	6233	129783715	SO:0001583	missense	11095	exon8			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1953A>C	11.37:g.130278505T>G	ENSP00000257359:p.Glu651Asp		129783715	NM_007037	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	T	3.452	-0.111758	0.06881	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.68025	-0.3	5.86	-0.862	0.10673	.	0.147581	0.64402	N	0.000010	T	0.23806	0.0576	N	0.01076	-1.035	0.24994	N	0.991512	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.34204	-0.9838	10	0.02654	T	1	.	4.3199	0.11011	0.5262:0.253:0.099:0.1217	.	651;132	Q9UP79;B3KVX9	ATS8_HUMAN;.	D	49;651;680	ENSP00000257359:E651D	ENSP00000257359:E651D	E	-	3	2	ADAMTS8	129783715	0.864000	0.29904	0.142000	0.22268	0.778000	0.44026	-0.060000	0.11712	-0.429000	0.07329	-0.146000	0.13790	GAA		0.642	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
ARNTL	406	broad.mit.edu	37	11	13380023	13380023	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:13380023G>T	ENST00000403290.1	+	8	619	c.264G>T	c.(262-264)atG>atT	p.M88I	ARNTL_ENST00000396441.3_Missense_Mutation_p.M88I|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389707.4_Missense_Mutation_p.M88I|ARNTL_ENST00000401424.1_Missense_Mutation_p.M45I|ARNTL_ENST00000403510.3_Missense_Mutation_p.M45I|ARNTL_ENST00000361003.4_Missense_Mutation_p.M88I|ARNTL_ENST00000389708.3_Missense_Mutation_p.M88I|ARNTL_ENST00000403482.3_Missense_Mutation_p.M86I			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	88	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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.M88I(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GGGATAAAATGAACAGTTTTA	0.378																																					p.M45I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G135T	11						.						155.0	165.0	162.0					11																	13380023		2200	4294	6494	13336599	SO:0001583	missense	406	exon8			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.264G>T	11.37:g.13380023G>T	ENSP00000384517:p.Met88Ile		13336599	NM_001030273	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.271589	0.95429	.	.	ENSG00000133794	ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640;ENST00000403482	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-2.0;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.77	5.77	0.91146	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95408	0.8509	N	0.20401	0.57	0.80722	D	1	P;D;D;D;D;D	0.89917	0.831;1.0;1.0;0.969;0.982;1.0	P;D;D;D;D;D	0.91635	0.758;0.999;0.999;0.968;0.961;0.999	D	0.94512	0.7719	9	.	.	.	.	17.7658	0.88477	0.0:0.0:1.0:0.0	.	88;86;45;88;88;45	O00327-4;O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;.;BMAL1_HUMAN;.;.	I	88;88;45;88;45;88;45;88;88;88;45;45;44;86	ENSP00000379718:M88I;ENSP00000431488:M88I;ENSP00000434263:M45I;ENSP00000374357:M88I;ENSP00000385915:M45I;ENSP00000433571:M88I;ENSP00000436313:M45I;ENSP00000384517:M88I;ENSP00000354278:M88I;ENSP00000374358:M88I;ENSP00000385581:M45I;ENSP00000436721:M45I;ENSP00000385897:M86I	.	M	+	3	0	ARNTL	13336599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.496000	0.97967	2.745000	0.94114	0.650000	0.86243	ATG		0.378	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	
NTM	50863	broad.mit.edu	37	11	132180023	132180023	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:132180023G>A	ENST00000374786.1	+	5	1158	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.E227K|NTM_ENST00000374784.1_Missense_Mutation_p.E227K|NTM_ENST00000425719.2_Missense_Mutation_p.E227K|NTM_ENST00000427481.2_Missense_Mutation_p.E218K|NTM_ENST00000539799.1_Missense_Mutation_p.E227K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	227	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E227K(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATACATTTCAGAAGCCAAGGG	0.488																																					p.E227K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G679A	11						.						119.0	124.0	122.0					11																	132180023		2201	4297	6498	131685233	SO:0001583	missense	50863	exon5			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.679G>A	11.37:g.132180023G>A	ENSP00000363918:p.Glu227Lys		131685233	NM_001144058	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872411	0.51695	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.59906	0.3;0.27;0.23;0.32;0.26;0.24	5.95	5.95	0.96441	Immunoglobulin-like (1);	0.200244	0.56097	D	0.000029	T	0.39708	0.1088	N	0.04880	-0.145	0.40097	D	0.976326	B;B;B;B;B;B	0.22983	0.078;0.008;0.002;0.004;0.002;0.016	B;B;B;B;B;B	0.24006	0.05;0.034;0.005;0.02;0.005;0.02	T	0.30966	-0.9960	10	0.14656	T	0.56	-22.2745	20.3712	0.98891	0.0:0.0:1.0:0.0	.	227;218;227;227;227;227	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	227;227;218;227;227;227	ENSP00000363923:E227K;ENSP00000437668:E227K;ENSP00000416320:E218K;ENSP00000363918:E227K;ENSP00000396722:E227K;ENSP00000363916:E227K	ENSP00000363916:E227K	E	+	1	0	NTM	131685233	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.749000	0.68704	2.822000	0.97130	0.655000	0.94253	GAA		0.488	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
NUP98	4928	broad.mit.edu	37	11	3746373	3746373	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:3746373T>G	ENST00000324932.7	-	15	2227	c.1807A>C	c.(1807-1809)Aat>Cat	p.N603H	NUP98_ENST00000359171.4_Missense_Mutation_p.N603H|NUP98_ENST00000355260.3_Missense_Mutation_p.N603H|NUP98_ENST00000397007.4_Missense_Mutation_p.N620H|NUP98_ENST00000397004.4_Missense_Mutation_p.N603H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	620					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAAGCTAGATTTTCTGAATCA	0.333			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																p.N620H			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	0			c.A1858C	11						.						90.0	90.0	90.0					11																	3746373		2200	4297	6497	3702949	SO:0001583	missense	4928	exon15			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1807A>C	11.37:g.3746373T>G	ENSP00000316032:p.Asn603His		3702949	NM_005387	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.35|17.35	3.368553|3.368553	0.61624|0.61624	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000527104|ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.|.	.|.	.|.	5.72|5.72	3.85|3.85	0.44370|0.44370	.|.	.|0.098073	.|0.64402	.|D	.|0.000002	T|T	0.17066|0.17066	0.0410|0.0410	N|N	0.08118|0.08118	0|0	0.27131|0.27131	N|N	0.961899|0.961899	.|P;P;P;P	.|0.48016	.|0.904;0.786;0.771;0.771	.|B;B;B;B	.|0.41036	.|0.179;0.346;0.218;0.311	T|T	0.03922|0.03922	-1.0992|-1.0992	5|9	.|0.45353	.|T	.|0.12	.|.	12.3765|12.3765	0.55283|0.55283	0.0:0.8962:0.0:0.1038|0.0:0.8962:0.0:0.1038	.|.	.|620;603;603;603	.|P52948-3;P52948-4;P52948-2;P52948-5	.|.;.;.;.	T|H	222|603;603;603;603;620	.|.	.|ENSP00000316032:N603H	K|N	-|-	2|1	0|0	NUP98|NUP98	3702949|3702949	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.716000|0.716000	0.41182|0.41182	5.517000|5.517000	0.67061|0.67061	0.759000|0.759000	0.33084|0.33084	-0.379000|-0.379000	0.06801|0.06801	AAA|AAT		0.333	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
OR52K2	119774	broad.mit.edu	37	11	4471424	4471424	+	Silent	SNP	C	C	T	rs560337817	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:4471424C>T	ENST00000325719.4	+	1	900	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F285F(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)		ATCTGCTCTTCCCACCCATGG	0.498																																					p.F285F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C855T	11						.						148.0	135.0	139.0					11																	4471424		2201	4298	6499	4428000	SO:0001819	synonymous_variant	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.855C>T	11.37:g.4471424C>T			4428000	NM_001005172	A8MUY8|B2RP35|Q6IFK4	Silent	SNP	ENST00000325719.4	37	CCDS31351.1																																																																																				0.498	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172	
OR51T1	401665	broad.mit.edu	37	11	4903827	4903827	+	Missense_Mutation	SNP	G	G	A	rs373780146		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:4903827G>A	ENST00000322049.1	+	1	698	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.R260Q			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R233Q(1)|p.R260Q(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGTGGCCCGAAAGAAGCAA	0.478																																					p.R260Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G779A	11						.	G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	83.0	72.0	76.0		779	3.9	0.8	11		76	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51T1	NM_001004759.1	43	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	benign	260/355	4903827	2,12996	2201	4298	6499	4860403	SO:0001583	missense	401665	exon1			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.698G>A	11.37:g.4903827G>A	ENSP00000322679:p.Arg233Gln		4860403	NM_001004759	Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37		.	.	.	.	.	.	.	.	.	.	G	6.573	0.474086	0.12521	2.27E-4	1.16E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.36878	1.23;1.23	4.85	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.164203	0.28958	N	0.013585	T	0.18964	0.0455	N	0.16862	0.45	0.09310	N	1	B	0.33198	0.401	B	0.25884	0.064	T	0.12041	-1.0563	10	0.13853	T	0.58	.	12.364	0.55219	0.0:0.8269:0.1731:0.0	.	233	Q8NGJ9	O51T1_HUMAN	Q	260;233	ENSP00000369738:R260Q;ENSP00000322679:R233Q	ENSP00000322679:R233Q	R	+	2	0	OR51T1	4860403	0.000000	0.05858	0.773000	0.31616	0.485000	0.33311	-0.034000	0.12225	1.266000	0.44231	-0.570000	0.04155	CGA		0.478	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759	
OR51G2	81282	broad.mit.edu	37	11	4936223	4936223	+	Missense_Mutation	SNP	G	G	A	rs200691528		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:4936223G>A	ENST00000322013.3	-	1	699	c.671C>T	c.(670-672)gCt>gTt	p.A224V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A224V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		CAGGATCAGAGCATAAGAGAA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		22666	0.0		0.001	False		,,,				2504	0.0				p.A224V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671T	11						.						141.0	111.0	121.0					11																	4936223		2201	4298	6499	4892799	SO:0001583	missense	81282	exon1			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.671C>T	11.37:g.4936223G>A	ENSP00000322593:p.Ala224Val		4892799	NM_001005238	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.005	-2.130805	0.00338	.	.	ENSG00000176893	ENST00000322013	T	0.00024	8.97	5.58	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.410849	0.20751	N	0.086357	T	0.00039	0.0001	N	0.00446	-1.495	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.36016	-0.9765	10	0.02654	T	1	.	5.5187	0.16921	0.3146:0.1438:0.5415:0.0	.	224	Q8NGK0	O51G2_HUMAN	V	224	ENSP00000322593:A224V	ENSP00000322593:A224V	A	-	2	0	OR51G2	4892799	0.000000	0.05858	0.341000	0.25589	0.022000	0.10575	0.009000	0.13219	0.458000	0.26988	0.655000	0.94253	GCT		0.522	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238	
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	G	A	rs371119617		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		CTGTAGAGACGATGACAAACA	0.512																																					p.I208I												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C624T	11						.	G		2,4400	4.2+/-10.8	0,2,2199	135.0	109.0	118.0		624	-1.6	0.2	11		118	0,8596		0,0,4298	no	coding-synonymous	OR51G2	NM_001005238.1		0,2,6497	AA,AG,GG		0.0,0.0454,0.0154		208/315	4936270	2,12996	2201	4298	6499	4892846	SO:0001819	synonymous_variant	81282	exon1			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.624C>T	11.37:g.4936270G>A			4892846	NM_001005238	Q6IFH7	Silent	SNP	ENST00000322013.3	37	CCDS31365.1																																																																																				0.512	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238	
OR51G2	81282	broad.mit.edu	37	11	4936722	4936722	+	Missense_Mutation	SNP	G	G	A	rs143406644		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:4936722G>A	ENST00000322013.3	-	1	200	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R58C(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		TGAAGTGAGCGCTCTGTTTTA	0.493																																					p.R58C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C172T	11						.	G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	91.0	81.0	84.0		172	1.4	1.0	11	dbSNP_134	84	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51G2	NM_001005238.1	180	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	benign	58/315	4936722	2,12996	2201	4298	6499	4893298	SO:0001583	missense	81282	exon1			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.172C>T	11.37:g.4936722G>A	ENSP00000322593:p.Arg58Cys		4893298	NM_001005238	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452560	0.26074	2.27E-4	1.16E-4	ENSG00000176893	ENST00000322013	T	0.00438	7.42	5.48	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.479278	0.17700	N	0.164956	T	0.00328	0.0010	L	0.60067	1.865	0.09310	N	1	B	0.31318	0.319	B	0.13407	0.009	T	0.45411	-0.9263	10	0.72032	D	0.01	.	7.7692	0.28997	0.2637:0.1202:0.6161:0.0	.	58	Q8NGK0	O51G2_HUMAN	C	58	ENSP00000322593:R58C	ENSP00000322593:R58C	R	-	1	0	OR51G2	4893298	0.000000	0.05858	1.000000	0.80357	0.918000	0.54935	0.017000	0.13399	0.453000	0.26858	-0.813000	0.03139	CGC		0.493	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238	
OR51A4	401666	broad.mit.edu	37	11	4967600	4967600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:4967600G>T	ENST00000380373.2	-	1	756	c.731C>A	c.(730-732)tCa>tAa	p.S244*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S244*(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.473																																					p.S244X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C731A	11						.						129.0	123.0	125.0					11																	4967600		2201	4298	6499	4924176	SO:0001587	stop_gained	401666	exon1			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.731C>A	11.37:g.4967600G>T	ENSP00000369731:p.Ser244*		4924176	NM_001005329		Nonsense_Mutation	SNP	ENST00000380373.2	37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944008	0.73672	.	.	ENSG00000205497	ENST00000380373	.	.	.	3.44	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999951	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7387	0.51780	0.0:0.18:0.82:0.0	.	.	.	.	X	244	.	ENSP00000369731:S244X	S	-	2	0	OR51A4	4924176	0.997000	0.39634	0.808000	0.32385	0.956000	0.61745	8.816000	0.91979	0.773000	0.33404	0.479000	0.44913	TCA		0.473	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329	
OR51L1	119682	broad.mit.edu	37	11	5020715	5020715	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:5020715A>C	ENST00000321543.1	+	1	503	c.503A>C	c.(502-504)tAt>tCt	p.Y168S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y168S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGACACTATCACTACTGC	0.478																																					p.Y168S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A503C	11						.						262.0	222.0	236.0					11																	5020715		2201	4298	6499	4977291	SO:0001583	missense	119682	exon1			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.503A>C	11.37:g.5020715A>C	ENSP00000322156:p.Tyr168Ser		4977291	NM_001004755	Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007682	0.54361	.	.	ENSG00000176798	ENST00000321543	T	0.37584	1.19	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.391966	0.18818	N	0.130318	T	0.35038	0.0918	L	0.29908	0.895	0.26655	N	0.972029	P	0.47841	0.901	P	0.51777	0.679	T	0.26189	-1.0110	10	0.87932	D	0	.	6.3027	0.21121	0.8321:0.0:0.1679:0.0	.	168	Q8NGJ5	O51L1_HUMAN	S	168	ENSP00000322156:Y168S	ENSP00000322156:Y168S	Y	+	2	0	OR51L1	4977291	0.000000	0.05858	0.985000	0.45067	0.899000	0.52679	0.755000	0.26405	2.169000	0.68431	0.455000	0.32223	TAT		0.478	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755	
OR51M1	390059	broad.mit.edu	37	11	5411327	5411327	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:5411327C>A	ENST00000328611.3	+	1	721	c.699C>A	c.(697-699)atC>atA	p.I233I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	233					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.I233I(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGACTCATCCTGCACACAG	0.532																																					p.I233I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C699A	11						.						130.0	126.0	127.0					11																	5411327		2082	4208	6290	5367903	SO:0001819	synonymous_variant	390059	exon1			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.699C>A	11.37:g.5411327C>A			5367903	NM_001004756	Q6IF80	Silent	SNP	ENST00000328611.3	37	CCDS53596.1																																																																																				0.532	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756	
OR51Q1	390061	broad.mit.edu	37	11	5443976	5443976	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:5443976C>T	ENST00000300778.4	+	1	636	c.546C>T	c.(544-546)ctC>ctT	p.L182L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L182L(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATTGCCTCCACCAGGATA	0.517																																					p.L182L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546T	11						.						187.0	176.0	179.0					11																	5443976		2201	4297	6498	5400552	SO:0001819	synonymous_variant	390061	exon1			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.546C>T	11.37:g.5443976C>T			5400552	NM_001004757	B2RNN1	Silent	SNP	ENST00000300778.4	37	CCDS31381.1																																																																																				0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757	
TRIM34	53840	broad.mit.edu	37	11	5663678	5663678	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:5663678G>T	ENST00000514226.1	+	6	1153	c.816G>T	c.(814-816)aaG>aaT	p.K272N	TRIM34_ENST00000495668.1_3'UTR|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.K272N|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K272N|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K626N	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	272					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.K626N(1)|p.K272N(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTTCCAAGAAACTGAAGA	0.448																																					p.K272N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G816T	11						.						95.0	90.0	92.0					11																	5663678		2201	4297	6498	5620254	SO:0001583	missense	445372	exon6			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.816G>T	11.37:g.5663678G>T	ENSP00000422947:p.Lys272Asn		5620254	NM_001003827	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825229	0.32237	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	3.02	1.12	0.20585	.	.	.	.	.	T	0.10937	0.0267	M	0.66939	2.045	0.09310	N	1	B;P	0.51351	0.078;0.944	B;P	0.57911	0.14;0.829	T	0.24048	-1.0171	9	0.17832	T	0.49	.	5.283	0.15686	0.2679:0.0:0.7321:0.0	.	272;626	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	N	626;272;272;272;626	ENSP00000422947:K272N;ENSP00000402595:K272N;ENSP00000395982:K272N;ENSP00000346916:K626N	ENSP00000402595:K272N	K	+	3	2	TRIM34;TRIM6-TRIM34	5620254	0.000000	0.05858	0.002000	0.10522	0.281000	0.26958	-0.444000	0.06854	0.316000	0.23135	0.460000	0.39030	AAG		0.448	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
OR52E4	390081	broad.mit.edu	37	11	5905893	5905893	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:5905893G>A	ENST00000316987.2	+	1	393	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R124H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTATGACCGCTTTGTTGCC	0.443																																					p.R124H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	11						.						127.0	112.0	117.0					11																	5905893		2201	4296	6497	5862469	SO:0001583	missense	390081	exon1			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.371G>A	11.37:g.5905893G>A	ENSP00000321426:p.Arg124His		5862469	NM_001005165	Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655253	0.47467	.	.	ENSG00000180974	ENST00000316987	T	0.77489	-1.1	5.06	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000115	T	0.79149	0.4397	M	0.90483	3.12	0.37463	D	0.9153	B	0.26147	0.143	B	0.24269	0.052	T	0.77587	-0.2532	10	0.72032	D	0.01	.	9.3497	0.38131	0.2309:0.0:0.7691:0.0	.	124	Q8NGH9	O52E4_HUMAN	H	124	ENSP00000321426:R124H	ENSP00000321426:R124H	R	+	2	0	OR52E4	5862469	0.996000	0.38824	0.999000	0.59377	0.984000	0.73092	6.026000	0.70873	0.316000	0.23135	0.643000	0.83706	CGC		0.443	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165	
OR56A3	390083	broad.mit.edu	37	11	5969036	5969036	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:5969036A>G	ENST00000329564.6	+	1	467	c.460A>G	c.(460-462)Acc>Gcc	p.T154A	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T154A(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)		GTTTATTTTGACCAGAAATGT	0.443																																					p.T154A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A460G	11						.						136.0	136.0	136.0					11																	5969036		2195	4295	6490	5925612	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.460A>G	11.37:g.5969036A>G	ENSP00000331572:p.Thr154Ala		5925612	NM_001003443	A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.611645	0.00835	.	.	ENSG00000184478	ENST00000329564	T	0.00069	8.77	5.13	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	0.277746	0.18224	N	0.147795	T	0.00039	0.0001	N	0.00666	-1.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16748	-1.0392	10	0.41790	T	0.15	-2.7235	7.7957	0.29146	0.5884:0.1254:0.2863:0.0	.	154	Q8NH54	O56A3_HUMAN	A	154	ENSP00000331572:T154A	ENSP00000331572:T154A	T	+	1	0	OR56A3	5925612	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.075000	0.30716	-0.698000	0.05085	-0.828000	0.03084	ACC		0.443	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
OR52B2	255725	broad.mit.edu	37	11	6191273	6191273	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6191273G>T	ENST00000530810.1	-	1	365	c.284C>A	c.(283-285)gCt>gAt	p.A95D	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A95D(1)		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)		GGCATCAAAAGCAATGTTATG	0.493																																					p.A95D	NSCLC(5;186 261 1778 7098 14207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284A	11						.						146.0	148.0	147.0					11																	6191273		2153	4267	6420	6147849	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.284C>A	11.37:g.6191273G>T	ENSP00000432011:p.Ala95Asp		6147849	NM_001004052	Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625636	0.28889	.	.	ENSG00000255307	ENST00000530810	D	0.83837	-1.77	5.02	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.63593	0.2524	N	0.12611	0.24	0.09310	N	1	P	0.39216	0.664	B	0.32289	0.143	T	0.52771	-0.8531	9	0.42905	T	0.14	.	6.9995	0.24801	0.161:0.0:0.7029:0.1361	.	95	Q96RD2	O52B2_HUMAN	D	95	ENSP00000432011:A95D	ENSP00000432011:A95D	A	-	2	0	OR52B2	6147849	0.000000	0.05858	0.013000	0.15412	0.680000	0.39746	-0.097000	0.11042	0.192000	0.20272	0.643000	0.83706	GCT		0.493	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052	
TRIM3	10612	broad.mit.edu	37	11	6477355	6477355	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6477355C>T	ENST00000525074.1	-	7	1874	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Missense_Mutation_p.A494T|TRIM3_ENST00000536344.1_Missense_Mutation_p.A375T|TRIM3_ENST00000537602.1_Missense_Mutation_p.A416T|TRIM3_ENST00000345851.3_Missense_Mutation_p.A494T	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	494					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A494T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTGGCTGCGGACACACCT	0.493																																					p.A494T	Melanoma(6;5 510 1540 25169 29084)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1480A	11						.						122.0	111.0	115.0					11																	6477355		2201	4296	6497	6433931	SO:0001583	missense	10612	exon8			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1480G>A	11.37:g.6477355C>T	ENSP00000433102:p.Ala494Thr		6433931	NM_006458	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575613	0.45902	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.66	3.76	0.43208	Six-bladed beta-propeller, TolB-like (1);	0.206931	0.51477	D	0.000083	T	0.41119	0.1145	N	0.03608	-0.345	0.44201	D	0.997021	P;B	0.34412	0.453;0.327	B;B	0.27380	0.079;0.079	T	0.43442	-0.9391	10	0.54805	T	0.06	-10.8431	6.6431	0.22921	0.1616:0.7041:0.0:0.1343	.	375;494	F5H2Q8;O75382	.;TRIM3_HUMAN	T	494;494;494;494;483;416;494;375	ENSP00000433102:A494T;ENSP00000340797:A494T;ENSP00000441091:A416T;ENSP00000352508:A494T;ENSP00000445460:A375T	ENSP00000337094:A483T	A	-	1	0	TRIM3	6433931	0.036000	0.19791	0.935000	0.37517	0.993000	0.82548	0.401000	0.20948	1.360000	0.45960	0.563000	0.77884	GCA		0.493	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
ARFIP2	23647	broad.mit.edu	37	11	6499049	6499049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6499049G>A	ENST00000254584.2	-	7	852	c.769C>T	c.(769-771)Cga>Tga	p.R257*	ARFIP2_ENST00000445086.2_Nonsense_Mutation_p.R172*|ARFIP2_ENST00000396777.3_Nonsense_Mutation_p.R257*|ARFIP2_ENST00000423813.2_Nonsense_Mutation_p.R219*	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	257	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)	p.R257*(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTCAAGTCGACCACGTGTC	0.567																																					p.R257X	Melanoma(119;796 1674 9049 20480 24794)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C769T	11						.						81.0	78.0	79.0					11																	6499049		2201	4296	6497	6455625	SO:0001587	stop_gained	23647	exon7			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.769C>T	11.37:g.6499049G>A	ENSP00000254584:p.Arg257*		6455625	NM_012402	B4DX86|B4E306|D3DQT5	Nonsense_Mutation	SNP	ENST00000254584.2	37	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399377	0.96030	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	.	.	.	4.61	3.68	0.42216	.	0.057464	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.9031	0.58137	0.0:0.0:0.8359:0.1641	.	.	.	.	X	257;257;172;219	.	ENSP00000254584:R257X	R	-	1	2	ARFIP2	6455625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.035000	0.49759	1.143000	0.42306	0.561000	0.74099	CGA		0.567	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402	
DCHS1	8642	broad.mit.edu	37	11	6661284	6661284	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6661284A>G	ENST00000299441.3	-	2	1972	c.1561T>C	c.(1561-1563)Ttc>Ctc	p.F521L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	521	Cadherin 5. {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.F521L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAATGGAGAACCAGTGGGTG	0.582																																					p.F521L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1561C	11						.						69.0	64.0	66.0					11																	6661284		2201	4296	6497	6617860	SO:0001583	missense	8642	exon2			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1561T>C	11.37:g.6661284A>G	ENSP00000299441:p.Phe521Leu		6617860	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178395	0.78564	.	.	ENSG00000166341	ENST00000299441	D	0.82526	-1.62	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	D	0.000490	D	0.91486	0.7312	M	0.85542	2.76	0.58432	D	0.999999	D	0.58620	0.983	D	0.77004	0.989	D	0.92566	0.6062	10	0.62326	D	0.03	.	14.515	0.67814	1.0:0.0:0.0:0.0	.	521	Q96JQ0	PCD16_HUMAN	L	521	ENSP00000299441:F521L	ENSP00000299441:F521L	F	-	1	0	DCHS1	6617860	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.231000	0.95317	2.092000	0.63282	0.472000	0.43445	TTC		0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
OR2AG1	144125	broad.mit.edu	37	11	6806386	6806386	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6806386A>G	ENST00000307401.4	+	1	139	c.118A>G	c.(118-120)Atc>Gtc	p.I40V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I40V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTTGGCCCTGATCAGCAATGG	0.527																																					p.I40V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A118G	11						.						180.0	172.0	175.0					11																	6806386		2201	4296	6497	6762962	SO:0001583	missense	144125	exon1			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.118A>G	11.37:g.6806386A>G	ENSP00000307447:p.Ile40Val		6762962	NM_001004489	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	A	0.378	-0.930290	0.02359	.	.	ENSG00000170803	ENST00000307401	T	0.00534	6.74	4.03	-1.12	0.09808	.	0.663349	0.13980	N	0.349551	T	0.00210	0.0006	N	0.03917	-0.325	0.09310	N	0.999994	B	0.02656	0.0	B	0.06405	0.002	T	0.35351	-0.9792	10	0.07482	T	0.82	.	4.3156	0.10991	0.4318:0.0:0.4016:0.1666	.	40	Q9H205	O2AG1_HUMAN	V	40	ENSP00000307447:I40V	ENSP00000307447:I40V	I	+	1	0	OR2AG1	6762962	0.000000	0.05858	0.058000	0.19502	0.053000	0.15095	-2.406000	0.01044	-0.066000	0.12998	0.482000	0.46254	ATC		0.527	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489	
OR10A5	144124	broad.mit.edu	37	11	6867798	6867798	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6867798T>C	ENST00000299454.4	+	1	916	c.885T>C	c.(883-885)aaT>aaC	p.N295N	OR10A5_ENST00000379831.2_Silent_p.N299N			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	295					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.N295N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTTGAGAAATAGCGAGGTGA	0.428																																					p.N295N	Pancreas(44;21 1072 25662 28041 45559)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T885C	11						.						96.0	97.0	97.0					11																	6867798		2201	4296	6497	6824374	SO:0001819	synonymous_variant	144124	exon1			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.885T>C	11.37:g.6867798T>C			6824374	NM_178168	O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	CCDS7773.1																																																																																				0.428	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168	
OR2D2	120776	broad.mit.edu	37	11	6913097	6913097	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6913097A>C	ENST00000299459.2	-	1	733	c.635T>G	c.(634-636)tTt>tGt	p.F212C		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	212					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.F212C(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)		CAGAATCAGAAAAACAGGTAT	0.473																																					p.F212C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T635G	11						.						85.0	82.0	83.0					11																	6913097		2201	4296	6497	6869673	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.635T>G	11.37:g.6913097A>C	ENSP00000299459:p.Phe212Cys		6869673	NM_003700	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	a	0.817	-0.749808	0.03041	.	.	ENSG00000166368	ENST00000299459	T	0.38401	1.14	5.08	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.137393	0.33938	N	0.004402	T	0.25791	0.0628	N	0.16708	0.43	0.09310	N	1	P	0.48764	0.915	P	0.47528	0.549	T	0.06625	-1.0816	10	0.27785	T	0.31	-17.98	9.2445	0.37518	0.1801:0.0:0.8199:0.0	.	212	Q9H210	OR2D2_HUMAN	C	212	ENSP00000299459:F212C	ENSP00000299459:F212C	F	-	2	0	OR2D2	6869673	0.000000	0.05858	0.194000	0.23346	0.010000	0.07245	0.870000	0.28010	0.852000	0.35287	-0.261000	0.10672	TTT		0.473	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700	
OR2D3	120775	broad.mit.edu	37	11	6942481	6942481	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6942481C>A	ENST00000317834.3	+	1	277	c.249C>A	c.(247-249)tcC>tcA	p.S83S		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S83S(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAAATCTCTCCTTTGCAGATC	0.408																																					p.S83S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249A	11						.						119.0	119.0	119.0					11																	6942481		2201	4296	6497	6899057	SO:0001819	synonymous_variant	120775	exon1			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.249C>A	11.37:g.6942481C>A			6899057	NM_001004684	B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																				0.408	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
OR2D3	120775	broad.mit.edu	37	11	6943179	6943179	+	Missense_Mutation	SNP	C	C	T	rs115093724	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6943179C>T	ENST00000317834.3	+	1	975	c.947C>T	c.(946-948)gCt>gTt	p.A316V		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A316V(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTCAAAGGGGCTCTCAGGAAA	0.403													C|||	51	0.0101837	0.0363	0.0043	5008	,	,		20452	0.0		0.0	False		,,,				2504	0.0				p.A316V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C947T	11						.	C	VAL/ALA	161,4241	99.8+/-138.5	0,161,2040	66.0	69.0	68.0		947	5.1	0.4	11	dbSNP_132	68	1,8591		0,1,4295	yes	missense	OR2D3	NM_001004684.1	64	0,162,6335	TT,TC,CC		0.0116,3.6574,1.2467	benign	316/331	6943179	162,12832	2201	4296	6497	6899755	SO:0001583	missense	120775	exon1			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.947C>T	11.37:g.6943179C>T	ENSP00000320560:p.Ala316Val		6899755	NM_001004684	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	CCDS31417.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	C	9.974	1.226170	0.22542	0.036574	1.16E-4	ENSG00000178358	ENST00000317834	T	0.44881	0.91	5.07	5.07	0.68467	.	0.341528	0.21175	N	0.078903	T	0.24812	0.0602	M	0.90483	3.12	0.09310	N	1	P	0.38078	0.617	B	0.40375	0.327	T	0.51060	-0.8753	10	0.87932	D	0	-20.6536	16.3485	0.83171	0.0:1.0:0.0:0.0	.	316	Q8NGH3	OR2D3_HUMAN	V	316	ENSP00000320560:A316V	ENSP00000320560:A316V	A	+	2	0	OR2D3	6899755	0.965000	0.33210	0.394000	0.26270	0.130000	0.20726	3.879000	0.56138	2.806000	0.96561	0.655000	0.94253	GCT		0.403	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
ZNF215	7762	broad.mit.edu	37	11	6962868	6962868	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:6962868G>A	ENST00000278319.5	+	4	1055	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ZNF215_ENST00000529903.1_Missense_Mutation_p.R156Q|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.R156Q	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	156					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.R156Q(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)		GCTGGCTCACGAACAGGCAAA	0.408																																					p.R156Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G467A	11						.						90.0	87.0	88.0					11																	6962868		2201	4296	6497	6919444	SO:0001583	missense	7762	exon4			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.467G>A	11.37:g.6962868G>A	ENSP00000278319:p.Arg156Gln		6919444	NM_013250	Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	3.921	-0.018176	0.07681	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.05319	3.46;3.46;5.99	4.16	-2.9	0.05648	.	1.726850	0.03587	N	0.231148	T	0.02304	0.0071	N	0.10837	0.055	0.09310	N	1	B;P;B	0.34826	0.013;0.471;0.002	B;B;B	0.23275	0.009;0.045;0.001	T	0.34254	-0.9836	10	0.13470	T	0.59	0.2121	0.9079	0.01288	0.1602:0.2996:0.1718:0.3684	.	156;156;156	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	Q	156	ENSP00000278319:R156Q;ENSP00000393202:R156Q;ENSP00000432306:R156Q	ENSP00000278319:R156Q	R	+	2	0	ZNF215	6919444	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-1.284000	0.02793	-0.640000	0.05495	-2.095000	0.00367	CGA		0.408	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1		
OR5P2	120065	broad.mit.edu	37	11	7817637	7817637	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:7817637T>C	ENST00000329434.2	-	1	883	c.853A>G	c.(853-855)Atc>Gtc	p.I285V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I285V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCTGTAGATCAGGGGGTTC	0.413																																					p.I285V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A853G	11						.						95.0	110.0	105.0					11																	7817637		2104	4292	6396	7774213	SO:0001583	missense	120065	exon1			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.853A>G	11.37:g.7817637T>C	ENSP00000331823:p.Ile285Val		7774213	NM_153444	Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720531	0.48728	.	.	ENSG00000183303	ENST00000329434	T	0.52057	0.68	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.39200	0.1069	L	0.33624	1.015	0.36080	D	0.842729	B	0.32010	0.351	B	0.33339	0.162	T	0.50906	-0.8772	10	0.45353	T	0.12	-93.9485	13.5956	0.61987	0.0:0.0:0.0:1.0	.	285	Q8WZ92	OR5P2_HUMAN	V	285	ENSP00000331823:I285V	ENSP00000331823:I285V	I	-	1	0	OR5P2	7774213	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.826000	0.55738	2.310000	0.77875	0.449000	0.29647	ATC		0.413	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444	
NRIP3	56675	broad.mit.edu	37	11	9009119	9009119	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:9009119G>T	ENST00000309166.3	-	3	511	c.398C>A	c.(397-399)tCt>tAt	p.S133Y	NRIP3_ENST00000531090.1_Missense_Mutation_p.S133Y	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	133							aspartic-type endopeptidase activity (GO:0004190)	p.S133Y(1)		large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACAGGCCAAAGAGATGAGATT	0.453																																					p.S133Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398A	11						.						170.0	140.0	150.0					11																	9009119		2201	4296	6497	8965695	SO:0001583	missense	56675	exon3			AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.398C>A	11.37:g.9009119G>T	ENSP00000310205:p.Ser133Tyr		8965695	NM_020645	Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488850	0.84962	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.54675	0.56	5.91	5.91	0.95273	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.054283	0.85682	D	0.000000	T	0.73265	0.3565	M	0.75777	2.31	0.43761	D	0.996273	D	0.65815	0.995	D	0.66716	0.946	T	0.74830	-0.3531	10	0.87932	D	0	-34.6046	19.0619	0.93096	0.0:0.0:1.0:0.0	.	133	Q9NQ35	NRIP3_HUMAN	Y	133;133;126	ENSP00000310205:S133Y	ENSP00000310205:S133Y	S	-	2	0	NRIP3	8965695	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.347000	0.73004	2.796000	0.96246	0.655000	0.94253	TCT		0.453	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645	
SCUBE2	57758	broad.mit.edu	37	11	9052385	9052385	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:9052385C>T	ENST00000309263.3	-	17	2246	c.2174G>A	c.(2173-2175)cGa>cAa	p.R725Q	SCUBE2_ENST00000520467.1_Missense_Mutation_p.R697Q|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R599Q|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R754Q			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	725						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R725Q(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)		GCAGGAAGTTCGACCAGCTTC	0.547																																					p.R697Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2090A	11						.						98.0	88.0	91.0					11																	9052385		2201	4296	6497	9008961	SO:0001583	missense	57758	exon17			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.2174G>A	11.37:g.9052385C>T	ENSP00000310658:p.Arg725Gln		9008961	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	C	31	5.069355	0.93950	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.3	5.3	0.74995	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.16903	0.455	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	T	0.09930	-1.0652	10	0.56958	D	0.05	.	18.9584	0.92670	0.0:1.0:0.0:0.0	.	599;697;725	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	Q	754;725;599;697	ENSP00000390481:R754Q;ENSP00000310658:R725Q;ENSP00000415187:R599Q;ENSP00000429969:R697Q	ENSP00000310658:R725Q	R	-	2	0	SCUBE2	9008961	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.395000	0.79876	2.490000	0.84030	0.491000	0.48974	CGA		0.547	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
BTBD10	84280	broad.mit.edu	37	11	13443229	13443229	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:13443229A>G	ENST00000278174.5	-	3	503	c.258T>C	c.(256-258)tgT>tgC	p.C86C	BTBD10_ENST00000530907.1_Silent_p.C94C|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Silent_p.C38C	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	86						nucleus (GO:0005634)		p.C86C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CATTTCTAATACAAGGAGTGA	0.403																																					p.C86C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T258C	11						.						141.0	119.0	126.0					11																	13443229		2200	4294	6494	13399805	SO:0001819	synonymous_variant	84280	exon3			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.258T>C	11.37:g.13443229A>G			13399805	NM_032320	B7Z228|Q86WG1	Silent	SNP	ENST00000278174.5	37	CCDS7811.1																																																																																				0.403	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	
PTH	5741	broad.mit.edu	37	11	13514134	13514134	+	Missense_Mutation	SNP	G	G	A	rs199955107		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:13514134G>A	ENST00000282091.1	-	3	280	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	PTH_ENST00000529816.1_Missense_Mutation_p.R56C	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	56	Important for receptor binding.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.R56C(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		AGCTTCTTACGCAGCCATTCT	0.478																																					p.R56C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C166T	11						.						94.0	95.0	95.0					11																	13514134		2200	4294	6494	13470710	SO:0001583	missense	5741	exon3			J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"""Endogenous ligands"""	9606	protein-coding gene	gene with protein product	"""parathyrin"", ""parathormone"", ""parathyroid hormone 1"", ""preproparathyroid hormone"", ""prepro-PTH"""	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.166C>T	11.37:g.13514134G>A	ENSP00000282091:p.Arg56Cys		13470710	NM_000315	Q4VB48|Q9UD38	Missense_Mutation	SNP	ENST00000282091.1	37	CCDS7812.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115218	0.56505	.	.	ENSG00000152266	ENST00000282091;ENST00000529816	D;D	0.83914	-1.78;-1.78	5.77	1.28	0.21552	.	0.278062	0.34088	N	0.004278	D	0.85613	0.5737	M	0.65975	2.015	0.09310	N	0.999998	D	0.69078	0.997	P	0.57846	0.828	T	0.77440	-0.2587	10	0.87932	D	0	-1.022	9.112	0.36734	0.0746:0.0:0.5001:0.4253	.	56	P01270	PTHY_HUMAN	C	56	ENSP00000282091:R56C;ENSP00000433208:R56C	ENSP00000282091:R56C	R	-	1	0	PTH	13470710	0.000000	0.05858	0.283000	0.24790	0.987000	0.75469	0.401000	0.20948	0.316000	0.23135	0.650000	0.86243	CGT		0.478	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315	
RRAS2	22800	broad.mit.edu	37	11	14316076	14316076	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:14316076G>A	ENST00000256196.4	-	4	662	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	RRAS2_ENST00000545643.1_Missense_Mutation_p.R123C|RRAS2_ENST00000532814.1_Missense_Mutation_p.R40C|RRAS2_ENST00000534746.1_Missense_Mutation_p.R40C|RRAS2_ENST00000526063.1_Missense_Mutation_p.R40C|RRAS2_ENST00000537760.1_Missense_Mutation_p.R82C|RRAS2_ENST00000529237.1_Missense_Mutation_p.R40C|RRAS2_ENST00000414023.2_Missense_Mutation_p.R40C			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	117					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R117C(1)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AACTCATCACGATCCTTTACT	0.299																																					p.R40C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C118T	11						.						55.0	57.0	56.0					11																	14316076		2200	4289	6489	14272652	SO:0001583	missense	22800	exon4			M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.349C>T	11.37:g.14316076G>A	ENSP00000256196:p.Arg117Cys		14272652	NM_001177315	B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033574	0.75504	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000414023;ENST00000529237;ENST00000256196;ENST00000534746;ENST00000526063;ENST00000532814;ENST00000531807;ENST00000531421	T;T;T;T;T;T;T;T;T;D	0.81821	0.34;-0.24;-0.57;-0.57;-0.13;-0.57;-0.57;-0.57;0.29;-1.54	5.88	5.88	0.94601	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	N	0.04669	-0.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.81538	-0.0887	10	0.45353	T	0.12	.	14.6552	0.68828	0.0:0.0:0.8545:0.1455	.	123;117	B7Z5Z2;P62070	.;RRAS2_HUMAN	C	82;123;40;40;117;40;40;40;98;40	ENSP00000437547:R82C;ENSP00000441722:R123C;ENSP00000403282:R40C;ENSP00000433230:R40C;ENSP00000256196:R117C;ENSP00000437083:R40C;ENSP00000434104:R40C;ENSP00000431954:R40C;ENSP00000435453:R98C;ENSP00000432559:R40C	ENSP00000256196:R117C	R	-	1	0	RRAS2	14272652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.591000	0.67536	2.797000	0.96272	0.561000	0.74099	CGT		0.299	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	
COPB1	1315	broad.mit.edu	37	11	14501200	14501200	+	Missense_Mutation	SNP	G	G	A	rs377571611		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:14501200G>A	ENST00000249923.3	-	11	1573	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	COPB1_ENST00000439561.2_Missense_Mutation_p.R425C|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	425					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)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.R425C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ATGGCTTCACGAACAAACTCC	0.343																																					p.R425C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1273T	11						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4400		0,0,2200	73.0	74.0	74.0		1273,1273,1273	5.9	1.0	11		74	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense,missense	COPB1	NM_001144061.1,NM_001144062.1,NM_016451.4	180,180,180	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	425/954,425/954,425/954	14501200	1,12987	2200	4294	6494	14457776	SO:0001583	missense	1315	exon11			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1273C>T	11.37:g.14501200G>A	ENSP00000249923:p.Arg425Cys		14457776	NM_016451	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373147	0.95923	0.0	1.16E-4	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.27557	1.66;1.66;1.66	5.92	5.92	0.95590	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77451	-0.2583	10	0.87932	D	0	-0.1037	20.3343	0.98733	0.0:0.0:1.0:0.0	.	425	P53618	COPB_HUMAN	C	425	ENSP00000249923:R425C;ENSP00000397873:R425C;ENSP00000436383:R425C	ENSP00000249923:R425C	R	-	1	0	COPB1	14457776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.822000	0.97130	0.650000	0.86243	CGT		0.343	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	
CYP2R1	120227	broad.mit.edu	37	11	14902249	14902249	+	Nonsense_Mutation	SNP	G	G	A	rs576642411		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:14902249G>A	ENST00000334636.5	-	3	479	c.433C>T	c.(433-435)Cga>Tga	p.R145*	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	145					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.R145*(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)	CCAAAATATCGAAAACTGTTT	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		18341	0.0		0.0	False		,,,				2504	0.001				p.R145X	NSCLC(173;1584 2058 26117 29365 41534)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C433T	11						.						42.0	44.0	44.0					11																	14902249		2197	4293	6490	14858825	SO:0001587	stop_gained	120227	exon3			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.433C>T	11.37:g.14902249G>A	ENSP00000334592:p.Arg145*		14858825	NM_024514	Q2M3H3|Q5RT65	Nonsense_Mutation	SNP	ENST00000334636.5	37	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	G	40	8.362532	0.98777	.	.	ENSG00000186104	ENST00000334636	.	.	.	5.9	5.9	0.94986	.	0.047287	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2664	0.98460	0.0:0.0:1.0:0.0	.	.	.	.	X	145	.	ENSP00000334592:R145X	R	-	1	2	CYP2R1	14858825	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.886000	0.87288	2.786000	0.95864	0.561000	0.74099	CGA		0.318	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514	
ABCC8	6833	broad.mit.edu	37	11	17483202	17483202	+	Silent	SNP	G	G	A	rs566527939		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:17483202G>A	ENST00000389817.3	-	5	818	c.750C>T	c.(748-750)atC>atT	p.I250I	ABCC8_ENST00000302539.4_Silent_p.I250I			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	250					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.I250I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCAGCTTCCCGATGGCTCGCA	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20204	0.0		0.0	False		,,,				2504	0.0				p.I250I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C750T	11						.						144.0	125.0	131.0					11																	17483202		2200	4293	6493	17439778	SO:0001819	synonymous_variant	6833	exon5			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.750C>T	11.37:g.17483202G>A			17439778	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	CCDS31437.1																																																																																				0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
USH1C	10083	broad.mit.edu	37	11	17545007	17545007	+	Missense_Mutation	SNP	C	C	T	rs369461618		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:17545007C>T	ENST00000318024.4	-	10	886	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	USH1C_ENST00000527020.1_Missense_Mutation_p.E260K|USH1C_ENST00000005226.7_Missense_Mutation_p.E260K|USH1C_ENST00000527720.1_Missense_Mutation_p.E229K	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	260	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.E260K(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCATTGACTTCGACAATCTGG	0.537																																					p.E260K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G778A	11						.	C	LYS/GLU,LYS/GLU	0,4400		0,0,2200	125.0	108.0	114.0		778,778	5.7	1.0	11		114	2,8584	2.2+/-6.3	0,2,4291	no	missense,missense	USH1C	NM_005709.3,NM_153676.3	56,56	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	260/553,260/900	17545007	2,12984	2200	4293	6493	17501583	SO:0001583	missense	10083	exon10			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.778G>A	11.37:g.17545007C>T	ENSP00000317018:p.Glu260Lys		17501583	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004443	0.93287	0.0	2.33E-4	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.69	5.69	0.88448	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	L	0.33189	0.99	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.957;0.981	T	0.65631	-0.6121	10	0.72032	D	0.01	.	16.718	0.85402	0.0:1.0:0.0:0.0	.	260;260;260	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	K	260;229;260;260;271	ENSP00000317018:E260K;ENSP00000432944:E229K;ENSP00000436934:E260K;ENSP00000005226:E260K;ENSP00000437128:E271K	ENSP00000005226:E260K	E	-	1	0	USH1C	17501583	1.000000	0.71417	0.973000	0.42090	0.786000	0.44442	6.533000	0.73829	2.684000	0.91462	0.557000	0.71058	GAA		0.537	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
USH1C	10083	broad.mit.edu	37	11	17548802	17548802	+	Missense_Mutation	SNP	C	C	T	rs142730611	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:17548802C>T	ENST00000318024.4	-	5	572	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	USH1C_ENST00000527020.1_Missense_Mutation_p.R155Q|USH1C_ENST00000005226.7_Missense_Mutation_p.R155Q|USH1C_ENST00000527720.1_Missense_Mutation_p.R124Q	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	155	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.R155Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTCTTGGTTCGAATGAGGTT	0.562																																					p.R155Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G464A	11						.						134.0	109.0	117.0					11																	17548802		2200	4293	6493	17505378	SO:0001583	missense	10083	exon5			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.464G>A	11.37:g.17548802C>T	ENSP00000317018:p.Arg155Gln		17505378	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533374	0.85812	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.12	4.18	0.49190	PDZ/DHR/GLGF (4);	0.126543	0.51477	D	0.000091	T	0.29190	0.0726	N	0.12443	0.215	0.38153	D	0.93879	D;D;D	0.76494	0.982;0.985;0.999	B;B;P	0.55965	0.26;0.378;0.788	T	0.24728	-1.0152	10	0.54805	T	0.06	.	11.7232	0.51693	0.0:0.9085:0.0:0.0915	.	155;155;155	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	155;124;155;155;166	ENSP00000317018:R155Q;ENSP00000432944:R124Q;ENSP00000436934:R155Q;ENSP00000005226:R155Q;ENSP00000437128:R166Q	ENSP00000005226:R155Q	R	-	2	0	USH1C	17505378	1.000000	0.71417	0.957000	0.39632	0.987000	0.75469	4.205000	0.58466	1.077000	0.40990	0.557000	0.71058	CGA		0.562	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
SPTY2D1	144108	broad.mit.edu	37	11	18637192	18637192	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:18637192C>T	ENST00000336349.5	-	3	864	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	210								p.R210Q(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCTATGCTTTCGTTCAAGGAA	0.433																																					p.R210Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G629A	11						.						196.0	194.0	195.0					11																	18637192		2199	4293	6492	18593768	SO:0001583	missense	144108	exon3			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.629G>A	11.37:g.18637192C>T	ENSP00000337991:p.Arg210Gln		18593768	NM_194285	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228446	0.58777	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.28895	1.59	5.63	3.78	0.43462	.	0.065628	0.64402	D	0.000007	T	0.19846	0.0477	L	0.34521	1.04	0.38767	D	0.954458	P	0.40144	0.704	B	0.27608	0.081	T	0.07252	-1.0782	10	0.66056	D	0.02	-0.6306	12.4015	0.55416	0.0:0.8629:0.0:0.1371	.	210	Q68D10	SPT2_HUMAN	Q	210	ENSP00000337991:R210Q	ENSP00000331447:R210Q	R	-	2	0	SPTY2D1	18593768	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.904000	0.63279	0.744000	0.32741	0.563000	0.77884	CGA		0.433	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
MRGPRX1	259249	broad.mit.edu	37	11	18955725	18955725	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:18955725G>T	ENST00000302797.3	-	1	831	c.607C>A	c.(607-609)Ctc>Atc	p.L203I	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	203					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L203I(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						GATCCACAGAGAATCCTGATC	0.517																																					p.L203I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C607A	11						.						113.0	97.0	102.0					11																	18955725		2194	4287	6481	18912301	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.607C>A	11.37:g.18955725G>T	ENSP00000305766:p.Leu203Ile		18912301	NM_147199	Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	12.11	1.839167	0.32513	.	.	ENSG00000170255	ENST00000302797	T	0.44881	0.91	2.28	-2.43	0.06522	GPCR, rhodopsin-like superfamily (1);	0.684822	0.12952	N	0.425747	T	0.44456	0.1294	M	0.67700	2.07	0.09310	N	1	P	0.51240	0.943	P	0.55391	0.775	T	0.39583	-0.9607	10	0.17369	T	0.5	.	4.4457	0.11597	0.5143:0.1782:0.3075:0.0	.	203	Q96LB2	MRGX1_HUMAN	I	203	ENSP00000305766:L203I	ENSP00000305766:L203I	L	-	1	0	MRGPRX1	18912301	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.252000	0.08806	-0.663000	0.05331	0.491000	0.48974	CTC		0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199	
E2F8	79733	broad.mit.edu	37	11	19247125	19247125	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:19247125A>C	ENST00000527884.1	-	12	2296	c.2064T>G	c.(2062-2064)gtT>gtG	p.V688V	E2F8_ENST00000529188.1_5'UTR|E2F8_ENST00000250024.4_Silent_p.V688V|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	688					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V688V(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGAAAATTAACAGCAGTGA	0.478																																					p.V688V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2064G	11						.						94.0	92.0	93.0					11																	19247125		2199	4293	6492	19203701	SO:0001819	synonymous_variant	79733	exon12				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2064T>G	11.37:g.19247125A>C			19203701	NM_024680	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	CCDS7849.1																																																																																				0.478	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680	
NAV2	89797	broad.mit.edu	37	11	20067210	20067210	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:20067210T>G	ENST00000396087.3	+	15	4064	c.3965T>G	c.(3964-3966)cTc>cGc	p.L1322R	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Missense_Mutation_p.L1251R|NAV2_ENST00000540292.1_Missense_Mutation_p.L1253R|NAV2_ENST00000349880.4_Missense_Mutation_p.L1299R|NAV2_ENST00000360655.4_Missense_Mutation_p.L1235R|NAV2_ENST00000396085.1_Missense_Mutation_p.L1299R|NAV2_ENST00000311043.8_Missense_Mutation_p.L385R|NAV2_ENST00000533917.1_Missense_Mutation_p.L385R	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1322					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.L1322R(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCTCCCACACTCCGCAGGTAA	0.507																																					p.L1235R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3704G	11						.						40.0	40.0	40.0					11																	20067210		2202	4299	6501	20023786	SO:0001583	missense	89797	exon14			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3965T>G	11.37:g.20067210T>G	ENSP00000379396:p.Leu1322Arg		20023786	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615563	0.87359	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.5;1.5;1.55;1.44;1.44;3.07;1.74;3.07	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000036	T	0.49064	0.1535	L	0.44542	1.39	0.80722	D	1	D;P;P;D;P	0.65815	0.995;0.867;0.936;0.981;0.903	P;B;P;P;P	0.60286	0.854;0.317;0.642;0.872;0.593	T	0.35822	-0.9773	9	.	.	.	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	1322;385;385;1299;1235	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	R	1235;1299;1299;1322;1251;1253;385;385;385;385	ENSP00000353871:L1235R;ENSP00000379394:L1299R;ENSP00000309577:L1299R;ENSP00000379396:L1322R;ENSP00000435395:L1251R;ENSP00000443489:L1253R;ENSP00000437316:L385R;ENSP00000437136:L385R;ENSP00000312169:L385R	.	L	+	2	0	NAV2	20023786	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.809000	0.86057	2.261000	0.74972	0.533000	0.62120	CTC		0.507	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NAV2	89797	broad.mit.edu	37	11	20112466	20112466	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:20112466T>C	ENST00000396087.3	+	30	5830	c.5731T>C	c.(5731-5733)Tta>Cta	p.L1911L	NAV2_ENST00000527559.2_Silent_p.L1840L|NAV2_ENST00000540292.1_Silent_p.L1842L|NAV2_ENST00000349880.4_Silent_p.L1852L|NAV2_ENST00000360655.4_Silent_p.L1788L|NAV2_ENST00000396085.1_Silent_p.L1855L|NAV2_ENST00000311043.8_Silent_p.L916L|NAV2_ENST00000533917.1_Silent_p.L916L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1911					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.L1911L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCGAAATGAGTTAAGAGACAA	0.493																																					p.L1788L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5362C	11						.						89.0	77.0	81.0					11																	20112466		2203	4300	6503	20069042	SO:0001819	synonymous_variant	89797	exon27			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5731T>C	11.37:g.20112466T>C			20069042	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
SLC6A5	9152	broad.mit.edu	37	11	20625913	20625913	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:20625913G>A	ENST00000525748.1	+	3	895	c.622G>A	c.(622-624)Gca>Aca	p.A208T		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	208					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A208T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGTGGGGTACGCAGTGGGGCT	0.627																																					p.A208T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622A	11						.						134.0	125.0	128.0					11																	20625913		2203	4300	6503	20582489	SO:0001583	missense	9152	exon3			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.622G>A	11.37:g.20625913G>A	ENSP00000434364:p.Ala208Thr		20582489	NM_004211	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138809	0.94560	.	.	ENSG00000165970	ENST00000525748	T	0.81078	-1.45	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92077	0.5669	10	0.87932	D	0	.	17.4615	0.87621	0.0:0.0:1.0:0.0	.	208	Q9Y345	SC6A5_HUMAN	T	208	ENSP00000434364:A208T	ENSP00000434364:A208T	A	+	1	0	SLC6A5	20582489	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.946000	0.87746	2.293000	0.77203	0.462000	0.41574	GCA		0.627	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
NELL1	4745	broad.mit.edu	37	11	21556012	21556012	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:21556012G>A	ENST00000357134.5	+	16	1890	c.1738G>A	c.(1738-1740)Ggt>Agt	p.G580S	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000298925.5_Missense_Mutation_p.G608S|NELL1_ENST00000325319.5_Missense_Mutation_p.G523S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	580	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.G580S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGCAGAAGCGGTTTCCATGA	0.527																																					p.G580S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1738A	11						.						191.0	155.0	167.0					11																	21556012		2203	4300	6503	21512588	SO:0001583	missense	4745	exon16			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1738G>A	11.37:g.21556012G>A	ENSP00000349654:p.Gly580Ser		21512588	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655651	0.88056	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319	D;D;D	0.92446	-3.04;-3.04;-3.04	5.74	5.74	0.90152	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.069572	0.56097	D	0.000026	D	0.97451	0.9166	M	0.94142	3.5	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	0.98006	1.0363	10	0.87932	D	0	-18.8865	19.9077	0.97014	0.0:0.0:1.0:0.0	.	523;608;580	F5H6I3;B3KXR2;Q92832	.;.;NELL1_HUMAN	S	608;580;523	ENSP00000298925:G608S;ENSP00000349654:G580S;ENSP00000317837:G523S	ENSP00000298925:G608S	G	+	1	0	NELL1	21512588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.714000	0.92807	0.585000	0.79938	GGT		0.527	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
GAS2	2620	broad.mit.edu	37	11	22747884	22747884	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:22747884G>A	ENST00000454584.2	+	4	619	c.314G>A	c.(313-315)gGc>gAc	p.G105D	GAS2_ENST00000278187.3_Missense_Mutation_p.G105D|GAS2_ENST00000433790.1_Missense_Mutation_p.G105D	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	105	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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.G105D(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GCACCCTCGGGCTCCTTTTTT	0.418																																					p.G105D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G314A	11						.						130.0	134.0	132.0					11																	22747884		2203	4300	6503	22704460	SO:0001583	missense	2620	exon4			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.314G>A	11.37:g.22747884G>A	ENSP00000401145:p.Gly105Asp		22704460	NM_001143830	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599926	0.87055	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.74	5.74	0.90152	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97979	1.0348	10	0.72032	D	0.01	-12.2664	19.9329	0.97127	0.0:0.0:1.0:0.0	.	105	O43903	GAS2_HUMAN	D	105	ENSP00000432584:G105D;ENSP00000401145:G105D;ENSP00000434478:G105D;ENSP00000278187:G105D;ENSP00000433182:G105D;ENSP00000435946:G105D;ENSP00000396708:G105D	ENSP00000278187:G105D	G	+	2	0	GAS2	22704460	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GGC		0.418	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	
MUC15	143662	broad.mit.edu	37	11	26587225	26587225	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:26587225T>G	ENST00000455601.2	-	2	299	c.181A>C	c.(181-183)Aat>Cat	p.N61H	MUC15_ENST00000527569.1_Missense_Mutation_p.N88H|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.N88H|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.N88H|MUC15_ENST00000529533.1_Missense_Mutation_p.N88H|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	61					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N61H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTGGTTATATTTTCTTTATCT	0.363																																					p.N88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A262C	11						.						106.0	101.0	103.0					11																	26587225		2203	4300	6503	26543801	SO:0001583	missense	143662	exon3			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.181A>C	11.37:g.26587225T>G	ENSP00000397339:p.Asn61His		26543801	NM_001135092	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348003	0.41599	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.26660	1.78;1.76;1.72;1.76;1.72	4.61	0.647	0.17796	.	0.798952	0.11332	N	0.574946	T	0.33876	0.0878	L	0.39898	1.24	0.09310	N	1	D;P;P	0.54047	0.964;0.815;0.815	P;P;P	0.59357	0.856;0.493;0.493	T	0.18777	-1.0326	10	0.72032	D	0.01	-15.6741	7.9724	0.30134	0.4852:0.0:0.0:0.5148	.	88;61;88	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	H	61;88;88;88;88	ENSP00000397339:N61H;ENSP00000416753:N88H;ENSP00000281268:N88H;ENSP00000431983:N88H;ENSP00000431945:N88H	ENSP00000281268:N88H	N	-	1	0	MUC15	26543801	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.771000	0.26633	-0.008000	0.14320	0.454000	0.30748	AAT		0.363	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650	
ANO3	63982	broad.mit.edu	37	11	26669273	26669273	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:26669273C>A	ENST00000256737.3	+	24	3298	c.2446C>A	c.(2446-2448)Ctc>Atc	p.L816I	ANO3_ENST00000531568.1_Missense_Mutation_p.L670I|ANO3_ENST00000525139.1_Missense_Mutation_p.L800I|ANO3_ENST00000537978.1_Missense_Mutation_p.L800I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	816					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.L816I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCTTGGAATTCTCGAAGGAAT	0.333																																					p.L816I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2446A	11						.						123.0	118.0	119.0					11																	26669273		2203	4299	6502	26625849	SO:0001583	missense	63982	exon24			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2446C>A	11.37:g.26669273C>A	ENSP00000256737:p.Leu816Ile		26625849	NM_031418	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516547	0.64634	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.75777	2.31	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.84102	0.0396	10	0.66056	D	0.02	.	18.3028	0.90169	0.0:1.0:0.0:0.0	.	718;816	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	800;800;816;718;670	ENSP00000440737:L800I;ENSP00000432576:L800I;ENSP00000256737:L816I;ENSP00000432394:L670I	ENSP00000256737:L816I	L	+	1	0	ANO3	26625849	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	4.966000	0.63715	2.421000	0.82119	0.557000	0.71058	CTC		0.333	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
LGR4	55366	broad.mit.edu	37	11	27389496	27389496	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:27389496G>A	ENST00000379214.4	-	18	3217	c.2774C>T	c.(2773-2775)gCc>gTc	p.A925V	LGR4_ENST00000389858.4_Missense_Mutation_p.A901V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	925					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.A925V(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TCGTCCACAGGCCTGCACCTG	0.507																																					p.A925V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2774T	11						.						91.0	92.0	91.0					11																	27389496		2202	4299	6501	27346072	SO:0001583	missense	55366	exon18			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2774C>T	11.37:g.27389496G>A	ENSP00000368516:p.Ala925Val		27346072	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787198	0.49997	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.63417	-0.04;0.05	5.88	4.96	0.65561	.	0.101870	0.64402	D	0.000002	T	0.44993	0.1320	N	0.14661	0.345	0.80722	D	1	B;B	0.27997	0.197;0.125	B;B	0.29524	0.103;0.048	T	0.45190	-0.9278	10	0.54805	T	0.06	.	10.5135	0.44876	0.069:0.1343:0.7967:0.0	.	901;925	G5E9B3;Q9BXB1	.;LGR4_HUMAN	V	925;901	ENSP00000368516:A925V;ENSP00000374508:A901V	ENSP00000368516:A925V	A	-	2	0	LGR4	27346072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	1.488000	0.48433	0.555000	0.69702	GCC		0.507	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
LGR4	55366	broad.mit.edu	37	11	27397915	27397915	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:27397915G>A	ENST00000379214.4	-	13	1555	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	LGR4_ENST00000389858.4_Missense_Mutation_p.S347F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	371					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.S371F(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ACGCTGTAAAGAACTAAATAA	0.333																																					p.S371F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1112T	11						.						53.0	59.0	57.0					11																	27397915		2201	4289	6490	27354491	SO:0001583	missense	55366	exon13			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1112C>T	11.37:g.27397915G>A	ENSP00000368516:p.Ser371Phe		27354491	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452299	0.26074	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.58358	0.34;0.34	5.93	5.93	0.95920	.	0.204013	0.46145	D	0.000313	T	0.36138	0.0956	N	0.16233	0.39	0.80722	D	1	P;P	0.37061	0.509;0.58	B;B	0.38156	0.266;0.235	T	0.16988	-1.0384	10	0.10636	T	0.68	.	13.7186	0.62712	0.0:0.0:0.731:0.2689	.	347;371	G5E9B3;Q9BXB1	.;LGR4_HUMAN	F	371;347	ENSP00000368516:S371F;ENSP00000374508:S347F	ENSP00000368516:S371F	S	-	2	0	LGR4	27354491	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.807000	0.55591	2.805000	0.96524	0.655000	0.94253	TCT		0.333	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
LGR4	55366	broad.mit.edu	37	11	27403778	27403778	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:27403778C>T	ENST00000379214.4	-	7	1158	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	LGR4_ENST00000389858.4_Missense_Mutation_p.E215K	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	239					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.E239K(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGAGGAAATTCCCCCAAGTTA	0.328																																					p.E239K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G715A	11						.						58.0	65.0	62.0					11																	27403778		2202	4298	6500	27360354	SO:0001583	missense	55366	exon7			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.715G>A	11.37:g.27403778C>T	ENSP00000368516:p.Glu239Lys		27360354	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264248	0.95399	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.58797	0.31;0.31	5.92	5.92	0.95590	.	0.181320	0.49305	D	0.000144	T	0.50480	0.1618	L	0.31664	0.95	0.80722	D	1	B;P	0.39424	0.308;0.673	B;B	0.37550	0.196;0.253	T	0.49934	-0.8886	10	0.45353	T	0.12	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	215;239	G5E9B3;Q9BXB1	.;LGR4_HUMAN	K	239;215	ENSP00000368516:E239K;ENSP00000374508:E215K	ENSP00000368516:E239K	E	-	1	0	LGR4	27360354	0.997000	0.39634	0.992000	0.48379	0.989000	0.77384	4.652000	0.61454	2.818000	0.97014	0.655000	0.94253	GAA		0.328	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
QSER1	79832	broad.mit.edu	37	11	32955397	32955397	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:32955397C>A	ENST00000399302.2	+	4	2541	c.2206C>A	c.(2206-2208)Ctt>Att	p.L736I	QSER1_ENST00000527788.1_Missense_Mutation_p.L497I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	736	Gln-rich.							p.L736I(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTACAAATTCTTCAGCAGTC	0.418																																					p.L736I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2206A	11						.						93.0	88.0	89.0					11																	32955397		1899	4119	6018	32911973	SO:0001583	missense	79832	exon4			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2206C>A	11.37:g.32955397C>A	ENSP00000382241:p.Leu736Ile		32911973	NM_001076786	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122286	0.56613	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.27557	2.07;1.66	5.64	4.72	0.59763	.	0.196186	0.35555	N	0.003139	T	0.29458	0.0734	L	0.32530	0.975	0.39935	D	0.97434	D;P;P	0.55385	0.971;0.86;0.78	P;P;B	0.48270	0.572;0.453;0.265	T	0.05115	-1.0905	10	0.66056	D	0.02	.	11.0427	0.47840	0.0:0.8578:0.0:0.1422	.	497;497;736	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	I	736;497;497	ENSP00000382241:L736I;ENSP00000432766:L497I	ENSP00000078652:L497I	L	+	1	0	QSER1	32911973	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.308000	0.43690	2.673000	0.90976	0.591000	0.81541	CTT		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
KIAA1549L	25758	broad.mit.edu	37	11	33564435	33564435	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:33564435T>A	ENST00000321505.4	+	1	615	c.435T>A	c.(433-435)aaT>aaA	p.N145K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.N145K|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.N145K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	145						integral component of membrane (GO:0016021)		p.N145K(1)									CCACTGCAAATGACTCTGCTA	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N145K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T435A	11						.						61.0	60.0	61.0					11																	33564435		1902	4104	6006	33521011	SO:0001583	missense	25758	exon1			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.435T>A	11.37:g.33564435T>A	ENSP00000315295:p.Asn145Lys	841	33521011	NM_012194	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	T	3.459	-0.110285	0.06924	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.12732	0.0309	N	0.19112	0.55	0.09310	N	1	B;B	0.14438	0.001;0.01	B;B	0.13407	0.001;0.009	T	0.17930	-1.0353	8	0.05351	T	0.99	4.8311	3.5662	0.07900	0.1259:0.3279:0.2972:0.2491	.	145;145	E9PAT2;Q6ZVL6-2	.;.	K	145	.	ENSP00000265654:N145K	N	+	3	2	C11orf41	33521011	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-1.436000	0.02421	-4.917000	0.00027	-2.109000	0.00356	AAT		0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
NAT10	55226	broad.mit.edu	37	11	34129840	34129840	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:34129840G>T	ENST00000257829.3	+	2	274	c.68G>T	c.(67-69)aGa>aTa	p.R23I	NAT10_ENST00000527971.1_Missense_Mutation_p.R23I|NAT10_ENST00000531159.2_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	23						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.R23I(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAGCGGCAAAGATCTCTCTTT	0.388																																					p.R23I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68T	11						.						139.0	140.0	139.0					11																	34129840		2202	4298	6500	34086416	SO:0001583	missense	55226	exon2			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.68G>T	11.37:g.34129840G>T	ENSP00000257829:p.Arg23Ile		34086416	NM_024662	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	36	5.607357	0.96626	.	.	ENSG00000135372	ENST00000257829;ENST00000529523;ENST00000527971	T;T;T	0.33438	1.41;1.41;1.41	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.69584	0.3127	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79624	-0.1726	10	0.87932	D	0	-23.1764	19.363	0.94448	0.0:0.0:1.0:0.0	.	23	Q9H0A0	NAT10_HUMAN	I	23	ENSP00000257829:R23I;ENSP00000435569:R23I;ENSP00000437324:R23I	ENSP00000257829:R23I	R	+	2	0	NAT10	34086416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.545000	0.98095	2.648000	0.89879	0.561000	0.74099	AGA		0.388	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662	
CAT	847	broad.mit.edu	37	11	34473654	34473654	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:34473654G>A	ENST00000241052.4	+	4	469	c.380G>A	c.(379-381)cGg>cAg	p.R127Q		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	127					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R127Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GACACAGTTCGGGACCCTCGT	0.453																																					p.R127Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	11						.						97.0	96.0	96.0					11																	34473654		2202	4298	6500	34430230	SO:0001583	missense	847	exon4			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.380G>A	11.37:g.34473654G>A	ENSP00000241052:p.Arg127Gln		34430230	NM_001752	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746891	0.96882	.	.	ENSG00000121691	ENST00000241052	D	0.93488	-3.23	5.77	5.77	0.91146	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99331	1.0909	10	0.87932	D	0	-17.8386	19.9883	0.97356	0.0:0.0:1.0:0.0	.	127	P04040	CATA_HUMAN	Q	127	ENSP00000241052:R127Q	ENSP00000241052:R127Q	R	+	2	0	CAT	34430230	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	9.750000	0.98875	2.722000	0.93159	0.555000	0.69702	CGG		0.453	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752	
RAG1	5896	broad.mit.edu	37	11	36596384	36596384	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:36596384G>A	ENST00000299440.5	+	2	1642	c.1530G>A	c.(1528-1530)gaG>gaA	p.E510E		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	510					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.E510E(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)				GGAATGCTGAGAAGGTACTTC	0.507									Familial Hemophagocytic Lymphohistiocytosis																												p.E510E	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1530A	11						.						120.0	113.0	116.0					11																	36596384		2202	4298	6500	36552960	SO:0001819	synonymous_variant	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.1530G>A	11.37:g.36596384G>A			36552960	NM_000448	E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	CCDS7902.1																																																																																				0.507	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
RAG1	5896	broad.mit.edu	37	11	36596847	36596847	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:36596847G>T	ENST00000299440.5	+	2	2105	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	665					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.E665*(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)				GCTGGCAGATGAGTCTGACCA	0.478									Familial Hemophagocytic Lymphohistiocytosis																												p.E665X	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1993T	11						.						70.0	63.0	65.0					11																	36596847		2202	4298	6500	36553423	SO:0001587	stop_gained	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.1993G>T	11.37:g.36596847G>T	ENSP00000299440:p.Glu665*		36553423	NM_000448	E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492805	0.96339	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5176	0.99214	0.0:0.0:1.0:0.0	.	.	.	.	X	665	.	ENSP00000299440:E665X	E	+	1	0	RAG1	36553423	1.000000	0.71417	0.995000	0.50966	0.493000	0.33554	9.476000	0.97823	2.852000	0.98041	0.644000	0.83932	GAG		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
C11orf74	119710	broad.mit.edu	37	11	36680608	36680608	+	Nonsense_Mutation	SNP	G	G	T	rs561002206	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:36680608G>T	ENST00000334307.5	+	6	653	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	C11orf74_ENST00000446510.2_Intron|C11orf74_ENST00000347206.4_Nonsense_Mutation_p.E106*|C11orf74_ENST00000534635.1_Nonsense_Mutation_p.E106*	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	180								p.E180*(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				ACTTGATGAAGAATTTGATTA	0.353																																					p.E180X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G538T	11						.						62.0	59.0	60.0					11																	36680608		2202	4298	6500	36637184	SO:0001587	stop_gained	119710	exon6			AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.538G>T	11.37:g.36680608G>T	ENSP00000334848:p.Glu180*		36637184	NM_138787	D3DR18|Q96DD6	Nonsense_Mutation	SNP	ENST00000334307.5	37	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001326	0.54254	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635	.	.	.	5.78	4.81	0.61882	.	0.177012	0.39687	N	0.001284	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1734	14.6846	0.69040	0.0:0.1443:0.8557:0.0	.	.	.	.	X	180;180;106;106	.	.	E	+	1	0	C11orf74	36637184	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.215000	0.51169	2.742000	0.94016	0.650000	0.86243	GAA		0.353	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787	
TTC17	55761	broad.mit.edu	37	11	43419595	43419595	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:43419595A>G	ENST00000039989.4	+	8	1004	c.990A>G	c.(988-990)caA>caG	p.Q330Q	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.Q330Q	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	330					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Q330Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GGTTTGAGCAAGCTATAAAGA	0.433																																					p.Q330Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A990G	11						.						162.0	145.0	151.0					11																	43419595		2203	4300	6503	43376171	SO:0001819	synonymous_variant	55761	exon8			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.990A>G	11.37:g.43419595A>G			43376171	NM_018259	G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	CCDS31466.1																																																																																				0.433	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	
ZNF408	79797	broad.mit.edu	37	11	46727333	46727333	+	Missense_Mutation	SNP	G	G	A	rs149066130	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:46727333G>A	ENST00000311764.2	+	5	2313	c.2083G>A	c.(2083-2085)Gcc>Acc	p.A695T		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	695					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.A695T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCAGATGCCGCCCCCAGCCT	0.592													G|||	3	0.000599042	0.0	0.0029	5008	,	,		19488	0.0		0.001	False		,,,				2504	0.0				p.A695T	Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2083A	11						.	G	THR/ALA,THR/ALA	1,4401	2.1+/-5.4	0,1,2200	35.0	32.0	33.0		2059,2083	-7.2	0.0	11	dbSNP_134	33	3,8595	3.0+/-9.4	0,3,4296	yes	missense,missense	ZNF408	NM_001184751.1,NM_024741.2	58,58	0,4,6496	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	687/713,695/721	46727333	4,12996	2201	4299	6500	46683909	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.2083G>A	11.37:g.46727333G>A	ENSP00000309606:p.Ala695Thr		46683909	NM_024741		Missense_Mutation	SNP	ENST00000311764.2	37	CCDS7923.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	6.062	0.379846	0.11466	2.27E-4	3.49E-4	ENSG00000175213	ENST00000311764	T	0.10192	2.9	5.21	-7.19	0.01500	.	2.059420	0.02611	N	0.102146	T	0.04227	0.0117	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.32322	-0.9911	10	0.22109	T	0.4	0.3703	1.5046	0.02484	0.3513:0.254:0.2553:0.1393	.	687;695	B4DXY4;Q9H9D4	.;ZN408_HUMAN	T	695	ENSP00000309606:A695T	ENSP00000309606:A695T	A	+	1	0	ZNF408	46683909	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-2.352000	0.01091	-1.418000	0.02014	-0.262000	0.10625	GCC		0.592	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741	
MADD	8567	broad.mit.edu	37	11	47308066	47308066	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:47308066G>A	ENST00000311027.5	+	15	2799	c.2634G>A	c.(2632-2634)acG>acA	p.T878T	MADD_ENST00000349238.3_Silent_p.T878T|MADD_ENST00000402799.1_Silent_p.T835T|MADD_ENST00000406482.1_Silent_p.T835T|MADD_ENST00000342922.4_Silent_p.T878T|MADD_ENST00000402192.2_Silent_p.T878T|MADD_ENST00000407859.3_Silent_p.T835T|MADD_ENST00000395336.3_Silent_p.T878T|MADD_ENST00000395344.3_Silent_p.T835T	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.T878T(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGAAGGCCACGCCCTTCCCCA	0.562																																					p.T878T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2634A	11						.						140.0	129.0	132.0					11																	47308066		2201	4298	6499	47264642	SO:0001819	synonymous_variant	8567	exon15			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2634G>A	11.37:g.47308066G>A			47264642	NM_003682		Silent	SNP	ENST00000311027.5	37	CCDS7930.1																																																																																				0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MYBPC3	4607	broad.mit.edu	37	11	47372917	47372917	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:47372917G>A	ENST00000545968.1	-	2	219	c.165C>T	c.(163-165)taC>taT	p.Y55Y	MYBPC3_ENST00000399249.2_Silent_p.Y55Y|MYBPC3_ENST00000256993.4_Silent_p.Y55Y	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	55					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.Y55Y(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGCCAGGCCGTACTTGTTGC	0.657																																					p.Y55Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	11						.						39.0	44.0	42.0					11																	47372917		2198	4286	6484	47329493	SO:0001819	synonymous_variant	4607	exon2			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.165C>T	11.37:g.47372917G>A			47329493	NM_000256	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	CCDS53621.1																																																																																				0.657	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
PSMC3	5702	broad.mit.edu	37	11	47446173	47446173	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:47446173T>G	ENST00000298852.3	-	4	532	c.375A>C	c.(373-375)aaA>aaC	p.K125N	PSMC3_ENST00000602866.1_Missense_Mutation_p.K109N|PSMC3_ENST00000530912.1_Missense_Mutation_p.K83N	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	125					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)|ATP catabolic process (GO:0006200)|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 RNA biosynthetic process (GO:2001141)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K125N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGTAGAGGTTTTGATCACAG	0.547																																					p.K125N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A375C	11						.						146.0	115.0	125.0					11																	47446173		2201	4298	6499	47402749	SO:0001583	missense	5702	exon4			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.375A>C	11.37:g.47446173T>G	ENSP00000298852:p.Lys125Asn		47402749	NM_002804	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.706044	0.68615	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653;ENST00000528362	D;D	0.95171	-3.63;-3.61	5.35	5.35	0.76521	.	0.043511	0.85682	D	0.000000	D	0.94909	0.8354	M	0.83223	2.63	0.51482	D	0.999929	B;P	0.49307	0.011;0.922	B;P	0.47044	0.023;0.535	D	0.94615	0.7808	10	0.54805	T	0.06	-15.0003	10.5307	0.44975	0.0:0.0777:0.0:0.9223	.	83;125	E9PM69;P17980	.;PRS6A_HUMAN	N	125;83;90;90;90;90;90;133;109;109	ENSP00000298852:K125N;ENSP00000433097:K83N	ENSP00000298852:K125N	K	-	3	2	PSMC3	47402749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.283000	0.33237	2.013000	0.59113	0.459000	0.35465	AAA		0.547	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804	
PTPMT1	114971	broad.mit.edu	37	11	47593175	47593175	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:47593175G>T	ENST00000326674.9	+	4	622	c.600G>T	c.(598-600)aaG>aaT	p.K200N	PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000426530.2_3'UTR|PTPMT1_ENST00000534775.1_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.K136N	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	200					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K200N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCATTTCAAAGACATGATGTA	0.453																																					p.K200N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G600T	11						.						138.0	123.0	128.0					11																	47593175		1875	4114	5989	47549751	SO:0001583	missense	114971	exon4			BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.600G>T	11.37:g.47593175G>T	ENSP00000325958:p.Lys200Asn		47549751	NM_175732	E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	CCDS41643.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205353	0.39003	.	.	ENSG00000110536	ENST00000326656;ENST00000326674	T	0.24538	1.85	5.69	-5.55	0.02536	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32348	-0.9910	9	0.87932	D	0	-9.5848	2.3381	0.04252	0.4679:0.2273:0.1893:0.1155	.	136;200	Q8WUK0-2;Q8WUK0	.;PTPM1_HUMAN	N	136;200	ENSP00000325958:K200N	ENSP00000325882:K136N	K	+	3	2	PTPMT1	47549751	0.001000	0.12720	0.000000	0.03702	0.174000	0.22865	0.282000	0.18829	-0.402000	0.07633	-0.140000	0.14226	AAG		0.453	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879	
AGBL2	79841	broad.mit.edu	37	11	47712381	47712381	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:47712381C>T	ENST00000525123.1	-	10	1163	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	AGBL2_ENST00000298861.4_Missense_Mutation_p.R293Q|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.R255Q|AGBL2_ENST00000357610.3_Missense_Mutation_p.R293Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	293						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R293Q(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAGGTCAGTTCGCAAGGTGAG	0.393																																					p.R293Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878A	11						.						67.0	64.0	65.0					11																	47712381		2201	4298	6499	47668957	SO:0001583	missense	79841	exon9				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.878G>A	11.37:g.47712381C>T	ENSP00000435582:p.Arg293Gln		47668957	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.43|14.43	2.532005|2.532005	0.45073|0.45073	.|.	.|.	ENSG00000165923|ENSG00000165923	ENST00000420784|ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595	.|T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52	5.71|5.71	1.83|1.83	0.25207|0.25207	.|.	.|0.058006	.|0.64402	.|D	.|0.000001	T|T	0.22437|0.22437	0.0541|0.0541	L|L	0.41356|0.41356	1.27|1.27	0.40385|0.40385	D|D	0.979483|0.979483	.|B;B;B	.|0.32324	.|0.188;0.364;0.235	.|B;B;B	.|0.27262	.|0.078;0.057;0.024	T|T	0.07712|0.07712	-1.0758|-1.0758	6|10	0.87932|0.59425	D|D	0|0.04	-8.1109|-8.1109	10.3755|10.3755	0.44079|0.44079	0.0:0.6745:0.0:0.3255|0.0:0.6745:0.0:0.3255	.|.	.|255;255;293	.|F6U0I4;B4DZS1;Q5U5Z8	.|.;.;CBPC2_HUMAN	K|Q	237|293;293;293;255;237	.|ENSP00000435582:R293Q;ENSP00000350228:R293Q;ENSP00000298861:R293Q;ENSP00000436630:R255Q;ENSP00000436063:R237Q	ENSP00000401899:E237K|ENSP00000298861:R293Q	E|R	-|-	1|2	0|0	AGBL2|AGBL2	47668957|47668957	0.913000|0.913000	0.31002|0.31002	0.894000|0.894000	0.35097|0.35097	0.877000|0.877000	0.50540|0.50540	1.864000|1.864000	0.39469|0.39469	0.366000|0.366000	0.24427|0.24427	-0.143000|-0.143000	0.13931|0.13931	GAA|CGA		0.393	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	
OR4C46	119749	broad.mit.edu	37	11	51515585	51515585	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:51515585G>A	ENST00000328188.1	+	1	304	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E102K(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGTCTTTGGAGAACATTTCTT	0.458																																					p.E102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	11						.						146.0	138.0	141.0					11																	51515585		2201	4296	6497	51372161	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.304G>A	11.37:g.51515585G>A	ENSP00000329056:p.Glu102Lys		51372161	NM_001004703		Missense_Mutation	SNP	ENST00000328188.1	37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	5.913	0.352612	0.11182	.	.	ENSG00000185926	ENST00000328188	T	0.02944	4.1	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000252	T	0.05181	0.0138	M	0.76838	2.35	0.09310	N	1	B	0.27910	0.193	B	0.26693	0.072	T	0.17410	-1.0370	10	0.37606	T	0.19	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	102	A6NHA9	O4C46_HUMAN	K	102	ENSP00000329056:E102K	ENSP00000329056:E102K	E	+	1	0	OR4C46	51372161	0.000000	0.05858	0.149000	0.22428	0.040000	0.13550	-0.423000	0.07034	1.513000	0.48852	0.134000	0.15878	GAA		0.458	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703	
OR4A16	81327	broad.mit.edu	37	11	55111366	55111366	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:55111366G>T	ENST00000314721.2	+	1	740	c.690G>T	c.(688-690)gaG>gaT	p.E230D		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E230D(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTCAGGAAGAGAGGCATAAAG	0.423																																					p.E230D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G690T	11						.						169.0	157.0	161.0					11																	55111366		2201	4296	6497	54867942	SO:0001583	missense	81327	exon1			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.690G>T	11.37:g.55111366G>T	ENSP00000325128:p.Glu230Asp		54867942	NM_001005274	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	3.906	-0.021031	0.07634	.	.	ENSG00000181961	ENST00000314721	T	0.00115	8.71	2.54	-1.22	0.09494	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.22421	0.69	0.09310	N	1	B	0.23806	0.091	B	0.35770	0.21	T	0.19321	-1.0309	9	0.87932	D	0	.	2.7284	0.05220	0.4281:0.0:0.3608:0.2111	.	230	Q8NH70	O4A16_HUMAN	D	230	ENSP00000325128:E230D	ENSP00000325128:E230D	E	+	3	2	OR4A16	54867942	0.000000	0.05858	0.788000	0.31933	0.060000	0.15804	-1.078000	0.03413	-0.023000	0.13963	0.423000	0.28283	GAG		0.423	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274	
OR4P4	81300	broad.mit.edu	37	11	55405954	55405954	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:55405954T>C	ENST00000314612.2	+	1	121	c.121T>C	c.(121-123)Tta>Cta	p.L41L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L41L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGGGAAACTTACTCATAAT	0.388																																					p.L41L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T121C	11						.						155.0	137.0	143.0					11																	55405954		2181	4026	6207	55162530	SO:0001819	synonymous_variant	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.121T>C	11.37:g.55405954T>C			55162530	NM_001004124		Silent	SNP	ENST00000314612.2	37	CCDS31504.1																																																																																				0.388	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
OR5D13	390142	broad.mit.edu	37	11	55541605	55541605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:55541605G>A	ENST00000361760.1	+	1	692	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231Q(3)		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)				ATGAAGATGCGATCTGCAAGT	0.423																																					p.R231Q												.	.	3	Substitution - Missense(3)	large_intestine(1)|breast(1)|endometrium(1)	c.G692A	11						.						135.0	122.0	126.0					11																	55541605		2200	4296	6496	55298181	SO:0001583	missense	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.692G>A	11.37:g.55541605G>A	ENSP00000354800:p.Arg231Gln		55298181	NM_001001967	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	6.694	0.496622	0.12762	.	.	ENSG00000198877	ENST00000361760	T	0.37915	1.17	3.82	-0.998	0.10212	GPCR, rhodopsin-like superfamily (1);	0.816593	0.09968	U	0.732586	T	0.17365	0.0417	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21109	-1.0255	10	0.36615	T	0.2	-1.989	4.7836	0.13215	0.134:0.38:0.3972:0.0887	.	231	Q8NGL4	OR5DD_HUMAN	Q	231	ENSP00000354800:R231Q	ENSP00000354800:R231Q	R	+	2	0	OR5D13	55298181	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-0.041000	0.13558	-2.100000	0.00362	CGA		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR10AG1	282770	broad.mit.edu	37	11	55735081	55735081	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:55735081C>A	ENST00000312345.2	-	1	909	c.859G>T	c.(859-861)Gat>Tat	p.D287Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, 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.D287Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACCATGATATCTTTGTTCCTC	0.333																																					p.D287Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G859T	11						.						56.0	62.0	60.0					11																	55735081		2201	4296	6497	55491657	SO:0001583	missense	282770	exon1			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.859G>T	11.37:g.55735081C>A	ENSP00000311477:p.Asp287Tyr		55491657	NM_001005491	B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	c	16.62	3.174191	0.57692	.	.	ENSG00000174970	ENST00000312345	T	0.40476	1.03	5.19	4.27	0.50696	.	0.000000	0.56097	D	0.000039	T	0.74512	0.3726	H	0.97158	3.95	0.44789	D	0.997794	D	0.89917	1.0	D	0.72338	0.977	T	0.83267	-0.0045	10	0.87932	D	0	.	13.358	0.60640	0.1584:0.8416:0.0:0.0	.	287	Q8NH19	O10AG_HUMAN	Y	287	ENSP00000311477:D287Y	ENSP00000311477:D287Y	D	-	1	0	OR10AG1	55491657	1.000000	0.71417	0.928000	0.36995	0.707000	0.40811	3.652000	0.54439	1.237000	0.43756	-0.408000	0.06270	GAT		0.333	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491	
OR8H2	390151	broad.mit.edu	37	11	55873092	55873092	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:55873092A>G	ENST00000313503.1	+	1	574	c.574A>G	c.(574-576)Aca>Gca	p.T192A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGCACTGATACATACAACAC	0.403										HNSCC(53;0.14)																											p.T192A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A574G	11						.						242.0	224.0	230.0					11																	55873092		2201	4296	6497	55629668	SO:0001583	missense	390151	exon1			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.574A>G	11.37:g.55873092A>G	ENSP00000323982:p.Thr192Ala		55629668	NM_001005200	Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	a	14.16	2.453802	0.43531	.	.	ENSG00000181767	ENST00000313503	T	0.00235	8.48	3.58	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.114974	0.39985	N	0.001207	T	0.00356	0.0011	M	0.68728	2.09	0.09310	N	1	D	0.55385	0.971	P	0.60068	0.868	T	0.46062	-0.9218	10	0.72032	D	0.01	.	5.5989	0.17343	0.7312:0.1721:0.0967:0.0	.	192	Q8N162	OR8H2_HUMAN	A	192	ENSP00000323982:T192A	ENSP00000323982:T192A	T	+	1	0	OR8H2	55629668	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	1.347000	0.33975	0.497000	0.27926	0.362000	0.22060	ACA		0.403	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200	
OR5T3	390154	broad.mit.edu	37	11	56020043	56020043	+	Missense_Mutation	SNP	C	C	T	rs368667732		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:56020043C>T	ENST00000303059.3	+	1	368	c.368C>T	c.(367-369)tCa>tTa	p.S123L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S123L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAATCCATTTCATTTATCGGA	0.343																																					p.S123L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C368T	11						.	C	LEU/SER	0,4402		0,0,2201	155.0	156.0	155.0		368	4.6	0.8	11		155	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR5T3	NM_001004747.1	145	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	123/341	56020043	1,12991	2201	4295	6496	55776619	SO:0001583	missense	390154	exon1			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.368C>T	11.37:g.56020043C>T	ENSP00000305403:p.Ser123Leu		55776619	NM_001004747	Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	c	8.911	0.958765	0.18507	0.0	1.16E-4	ENSG00000172489	ENST00000303059	T	0.00737	5.76	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	U	0.000714	T	0.01765	0.0056	M	0.83223	2.63	0.09310	N	1	B	0.28082	0.2	B	0.30105	0.111	T	0.18335	-1.0340	10	0.62326	D	0.03	.	11.3627	0.49653	0.0:0.9158:0.0:0.0842	.	123	Q8NGG3	OR5T3_HUMAN	L	123	ENSP00000305403:S123L	ENSP00000305403:S123L	S	+	2	0	OR5T3	55776619	0.009000	0.17119	0.785000	0.31869	0.206000	0.24218	1.952000	0.40343	2.512000	0.84698	0.643000	0.83706	TCA		0.343	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747	
OR8H1	219469	broad.mit.edu	37	11	56058407	56058407	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:56058407C>T	ENST00000313022.2	-	1	159	c.132G>A	c.(130-132)ggG>ggA	p.G44G		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G44G(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)					TCAATATCATCCCCACATTGC	0.423																																					p.G44G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G132A	11						.						214.0	201.0	205.0					11																	56058407		2201	4296	6497	55814983	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.132G>A	11.37:g.56058407C>T			55814983	NM_001005199	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1																																																																																				0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OR8K1	390157	broad.mit.edu	37	11	56113868	56113868	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:56113868C>A	ENST00000279783.2	+	1	448	c.354C>A	c.(352-354)ctC>ctA	p.L118L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L118L(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCTCTGAGCTCTTTATTCTAT	0.398										HNSCC(65;0.19)																											p.L118L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354A	11						.						191.0	192.0	192.0					11																	56113868		2201	4296	6497	55870444	SO:0001819	synonymous_variant	390157	exon1			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.354C>A	11.37:g.56113868C>A			55870444	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	CCDS31528.1																																																																																				0.398	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907	
OR5R1	219479	broad.mit.edu	37	11	56184779	56184779	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:56184779T>G	ENST00000312253.1	-	1	929	c.930A>C	c.(928-930)gaA>gaC	p.E310D		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E310D(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)					TCTGTAAGTTTTCACAACCTT	0.303																																					p.E310D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A930C	11						.						56.0	56.0	56.0					11																	56184779		2185	4286	6471	55941355	SO:0001583	missense	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.930A>C	11.37:g.56184779T>G	ENSP00000308595:p.Glu310Asp		55941355	NM_001004744		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	5.498	0.276791	0.10403	.	.	ENSG00000174942	ENST00000312253	T	0.00054	8.8	5.42	0.0293	0.14162	.	.	.	.	.	T	0.00073	0.0002	N	0.14661	0.345	0.09310	N	1	B	0.24882	0.113	B	0.21708	0.036	T	0.00569	-1.1666	9	0.12103	T	0.63	-9.5624	5.5077	0.16864	0.0:0.166:0.2268:0.6072	.	310	Q8NH85	OR5R1_HUMAN	D	310	ENSP00000308595:E310D	ENSP00000308595:E310D	E	-	3	2	OR5R1	55941355	0.003000	0.15002	0.968000	0.41197	0.174000	0.22865	-0.159000	0.10056	0.383000	0.24910	0.523000	0.50628	GAA		0.303	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
OR5M3	219482	broad.mit.edu	37	11	56237173	56237173	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:56237173C>T	ENST00000312240.2	-	1	841	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E267E(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCTTCCCCTGCTCCACAGACT	0.473																																					p.E267E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G801A	11						.						16.0	17.0	16.0					11																	56237173		2175	4252	6427	55993749	SO:0001819	synonymous_variant	219482	exon1			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.801G>A	11.37:g.56237173C>T			55993749	NM_001004742	B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	CCDS31532.1																																																																																				0.473	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
OR5M11	219487	broad.mit.edu	37	11	56310346	56310346	+	Missense_Mutation	SNP	G	G	A	rs544158488		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:56310346G>A	ENST00000528616.2	-	1	411	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R130C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACACTGTAGCGCAGAGGGTCA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		21956	0.001		0.0	False		,,,				2504	0.0				p.R130C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388T	11						.						54.0	57.0	56.0					11																	56310346		2191	4286	6477	56066922	SO:0001583	missense	219487	exon1			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.388C>T	11.37:g.56310346G>A	ENSP00000432417:p.Arg130Cys		56066922	NM_001005245	B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956797	0.34565	.	.	ENSG00000255223	ENST00000528616	T	0.01484	4.84	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03783	0.0107	M	0.62088	1.915	0.44555	D	0.997517	B	0.09022	0.002	B	0.06405	0.002	T	0.38735	-0.9647	9	0.66056	D	0.02	.	17.4123	0.87489	0.0:0.0:1.0:0.0	.	130	Q96RB7	OR5MB_HUMAN	C	130	ENSP00000432417:R130C	ENSP00000432417:R130C	R	-	1	0	OR5M11	56066922	0.384000	0.25164	0.692000	0.30179	0.396000	0.30629	1.698000	0.37794	2.688000	0.91661	0.632000	0.83419	CGC		0.483	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245	
OR5AP2	338675	broad.mit.edu	37	11	56409006	56409006	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:56409006T>G	ENST00000302981.1	-	1	909	c.910A>C	c.(910-912)Aaa>Caa	p.K304Q	OR5AP2_ENST00000544374.1_Missense_Mutation_p.K305Q	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K304Q(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						AGGGCCTTTTTTACATCCTTA	0.338																																					p.K304Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A910C	11						.						75.0	74.0	74.0					11																	56409006		2201	4296	6497	56165582	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.910A>C	11.37:g.56409006T>G	ENSP00000303111:p.Lys304Gln		56165582	NM_001002925	B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727100	0.48833	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.39406	1.08;1.08	4.94	4.94	0.65067	.	0.000000	0.52532	D	0.000080	T	0.58850	0.2151	M	0.74389	2.26	0.34955	D	0.751598	D	0.53312	0.959	P	0.57101	0.813	T	0.73585	-0.3936	10	0.72032	D	0.01	.	13.7369	0.62824	0.0:0.0:0.0:1.0	.	304	Q8NGF4	O5AP2_HUMAN	Q	305;304	ENSP00000442701:K305Q;ENSP00000303111:K304Q	ENSP00000303111:K304Q	K	-	1	0	OR5AP2	56165582	0.368000	0.25031	0.828000	0.32881	0.339000	0.28857	2.271000	0.43364	2.090000	0.63153	0.519000	0.50382	AAA		0.338	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925	
RTN4RL2	349667	broad.mit.edu	37	11	57235268	57235268	+	Missense_Mutation	SNP	G	G	A	rs537129988	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:57235268G>A	ENST00000533205.1	+	2	227	c.218G>A	c.(217-219)cGc>cAc	p.R73H	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R73H|RTN4RL2_ENST00000335099.3_Missense_Mutation_p.R73H					reticulon 4 receptor-like 2									p.R73H(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AACCTCATCCGCACGCTGCGG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		18678	0.0		0.0	False		,,,				2504	0.002				p.R73H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	11						.						186.0	160.0	169.0					11																	57235268		2201	4296	6497	56991844	SO:0001583	missense	349667	exon2			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.218G>A	11.37:g.57235268G>A	ENSP00000435606:p.Arg73His		56991844	NM_178570		Missense_Mutation	SNP	ENST00000533205.1	37		.	.	.	.	.	.	.	.	.	.	G	14.84	2.654652	0.47467	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;D;D	0.83914	4.26;-1.78;-1.78	4.96	4.96	0.65561	.	0.186921	0.22985	N	0.053277	T	0.80486	0.4632	L	0.32530	0.975	0.30119	N	0.805883	P	0.48407	0.91	P	0.48921	0.595	T	0.79172	-0.1913	10	0.49607	T	0.09	.	13.8855	0.63706	0.0:0.153:0.847:0.0	.	73	Q86UN3	R4RL2_HUMAN	H	73	ENSP00000335397:R73H;ENSP00000435606:R73H;ENSP00000378552:R73H	ENSP00000335397:R73H	R	+	2	0	RTN4RL2	56991844	0.548000	0.26473	1.000000	0.80357	0.793000	0.44817	2.710000	0.47169	2.471000	0.83476	0.561000	0.74099	CGC		0.622	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570	
SERPING1	710	broad.mit.edu	37	11	57381812	57381812	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:57381812T>G	ENST00000278407.4	+	8	1488	c.1261T>G	c.(1261-1263)Ttt>Gtt	p.F421V	SERPING1_ENST00000378323.4_Missense_Mutation_p.F426V|SERPING1_ENST00000378324.2_Missense_Mutation_p.F369V|SERPING1_ENST00000403558.1_Missense_Mutation_p.F464V|SERPING1_ENST00000340687.6_Missense_Mutation_p.F384V	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	421					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.F421V(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATTCTTCGATTTTTCTTATGA	0.483																																					p.F421V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1261G	11						.						95.0	95.0	95.0					11																	57381812		2201	4296	6497	57138388	SO:0001583	missense	710	exon8			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.1261T>G	11.37:g.57381812T>G	ENSP00000278407:p.Phe421Val		57138388	NM_000062	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	CCDS7962.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.55|17.55	3.416475|3.416475	0.62511|0.62511	.|.	.|.	ENSG00000149131|ENSG00000149131	ENST00000433668|ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	.|D;D;D;D;D	.|0.94232	.|-3.38;-3.38;-3.38;-3.38;-3.38	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Serpin domain (3);	0.071898|0.071898	0.56097|0.56097	D|D	0.000024|0.000024	D|D	0.94860|0.94860	0.8339|0.8339	M|M	0.80982|0.80982	2.52|2.52	0.37530|0.37530	D|D	0.917879|0.917879	.|B;B;B	.|0.19935	.|0.04;0.04;0.04	.|B;B;B	.|0.41036	.|0.262;0.346;0.346	D|D	0.95144|0.95144	0.8266|0.8266	7|10	0.87932|0.62326	D|D	0|0.03	.|.	12.2083|12.2083	0.54365|0.54365	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|426;421;421	.|B4E1F0;E9KL26;P05155	.|.;.;IC1_HUMAN	C|V	131|421;384;426;369;464	.|ENSP00000278407:F421V;ENSP00000341861:F384V;ENSP00000367574:F426V;ENSP00000367575:F369V;ENSP00000384420:F464V	ENSP00000399800:F131C|ENSP00000278407:F421V	F|F	+|+	2|1	0|0	SERPING1|SERPING1	57138388|57138388	0.999000|0.999000	0.42202|0.42202	0.967000|0.967000	0.41034|0.41034	0.596000|0.596000	0.36781|0.36781	1.503000|1.503000	0.35715|0.35715	1.936000|1.936000	0.56123|0.56123	0.379000|0.379000	0.24179|0.24179	TTT|TTT		0.483	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062	
CTNND1	1500	broad.mit.edu	37	11	57571170	57571170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:57571170G>T	ENST00000399050.4	+	8	2034	c.1498G>T	c.(1498-1500)Gaa>Taa	p.E500*	CTNND1_ENST00000361796.4_Nonsense_Mutation_p.E500*|CTNND1_ENST00000534579.1_Nonsense_Mutation_p.E446*|CTNND1_ENST00000529873.1_Nonsense_Mutation_p.E446*|CTNND1_ENST00000531014.1_Nonsense_Mutation_p.E177*|CTNND1_ENST00000532463.1_Nonsense_Mutation_p.E399*|CTNND1_ENST00000530094.1_Nonsense_Mutation_p.E399*|CTNND1_ENST00000532245.1_Nonsense_Mutation_p.E399*|CTNND1_ENST00000532649.1_Nonsense_Mutation_p.E446*|CTNND1_ENST00000361391.6_Nonsense_Mutation_p.E500*|CTNND1_ENST00000529526.1_Nonsense_Mutation_p.E446*|CTNND1_ENST00000526357.1_Nonsense_Mutation_p.E446*|CTNND1_ENST00000358694.6_Nonsense_Mutation_p.E500*|CTNND1_ENST00000528232.1_Nonsense_Mutation_p.E399*|CTNND1_ENST00000528621.1_Nonsense_Mutation_p.E446*|CTNND1_ENST00000428599.2_Nonsense_Mutation_p.E500*|CTNND1_ENST00000532844.1_Nonsense_Mutation_p.E446*|CTNND1_ENST00000529986.1_Nonsense_Mutation_p.E399*|CTNND1_ENST00000526938.1_Nonsense_Mutation_p.E500*|CTNND1_ENST00000360682.6_Nonsense_Mutation_p.E500*|CTNND1_ENST00000532787.1_Nonsense_Mutation_p.E399*|CTNND1_ENST00000527467.1_Nonsense_Mutation_p.E177*|CTNND1_ENST00000530748.1_Nonsense_Mutation_p.E446*|CTNND1_ENST00000524630.1_Nonsense_Mutation_p.E500*|CTNND1_ENST00000361332.4_Nonsense_Mutation_p.E500*|CTNND1_ENST00000533667.1_Nonsense_Mutation_p.E177*|CTNND1_ENST00000529919.1_Nonsense_Mutation_p.E500*|CTNND1_ENST00000415361.2_Nonsense_Mutation_p.E399*|CTNND1_ENST00000525902.1_Nonsense_Mutation_p.E177*|CTNND1_ENST00000426142.2_Nonsense_Mutation_p.E399*|CTNND1_ENST00000399039.4_Nonsense_Mutation_p.E500*|CTNND1_ENST00000526772.1_Nonsense_Mutation_p.E177*	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	500					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.E500*(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTGACAGATGAAGTGATCAT	0.483																																					p.E500X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1498T	11						.						96.0	90.0	92.0					11																	57571170		1994	4170	6164	57327746	SO:0001587	stop_gained	1500	exon8			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1498G>T	11.37:g.57571170G>T	ENSP00000382004:p.Glu500*		57327746	NM_001331	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Nonsense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	43	10.223952	0.99362	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.4209	19.3681	0.94473	0.0:0.0:1.0:0.0	.	.	.	.	X	500;500;500;500;500;446;399;500;500;500;399;399;500;399;177;446;446;446;500;177;399;177;177;446;177;446;446;399;399;399;446;500	.	ENSP00000351527:E500X	E	+	1	0	CTNND1	57327746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	GAA		0.483	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	
OR9I1	219954	broad.mit.edu	37	11	57886022	57886022	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:57886022C>A	ENST00000302610.1	-	1	894	c.895G>T	c.(895-897)Gac>Tac	p.D299Y	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D299Y(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CTGAAGGCGTCTTTTACATCT	0.433																																					p.D299Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G895T	11						.						125.0	130.0	128.0					11																	57886022		2201	4296	6497	57642598	SO:0001583	missense	219954	exon1			AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.895G>T	11.37:g.57886022C>A	ENSP00000302606:p.Asp299Tyr		57642598	NM_001005211	Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589046	0.28357	.	.	ENSG00000172377	ENST00000302610	T	0.38077	1.16	4.97	2.05	0.26809	.	0.473833	0.17627	N	0.167525	T	0.25457	0.0619	L	0.43923	1.385	0.09310	N	1	B	0.28971	0.229	B	0.28232	0.087	T	0.18967	-1.0320	10	0.49607	T	0.09	-1.6112	3.5216	0.07744	0.1377:0.5727:0.1339:0.1558	.	299	Q8NGQ6	OR9I1_HUMAN	Y	299	ENSP00000302606:D299Y	ENSP00000302606:D299Y	D	-	1	0	OR9I1	57642598	0.000000	0.05858	0.016000	0.15963	0.007000	0.05969	0.587000	0.23909	0.367000	0.24454	0.467000	0.42956	GAC		0.433	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211	
OR9I1	219954	broad.mit.edu	37	11	57886537	57886537	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:57886537C>T	ENST00000302610.1	-	1	379	c.380G>A	c.(379-381)cGc>cAc	p.R127H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R127H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CAGTGGGTTGCGAATGGCAGC	0.562																																					p.R127H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	11						.						50.0	47.0	48.0					11																	57886537		2201	4296	6497	57643113	SO:0001583	missense	219954	exon1			AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.380G>A	11.37:g.57886537C>T	ENSP00000302606:p.Arg127His		57643113	NM_001005211	Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533924	0.45073	.	.	ENSG00000172377	ENST00000302610	T	0.19806	2.12	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.212485	0.33438	N	0.004916	T	0.15696	0.0378	N	0.22421	0.69	0.40071	D	0.97601	P	0.51147	0.942	B	0.38056	0.264	T	0.04103	-1.0977	10	0.72032	D	0.01	-13.7502	17.5525	0.87880	0.0:1.0:0.0:0.0	.	127	Q8NGQ6	OR9I1_HUMAN	H	127	ENSP00000302606:R127H	ENSP00000302606:R127H	R	-	2	0	OR9I1	57643113	0.853000	0.29707	0.996000	0.52242	0.260000	0.26232	4.654000	0.61469	2.809000	0.96659	0.467000	0.42956	CGC		0.562	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211	
OR9Q2	219957	broad.mit.edu	37	11	57958840	57958840	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:57958840G>A	ENST00000311591.3	+	1	935	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TATAGCCTGAGAAACAAGGAG	0.498																																					p.R293K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878A	11						.						66.0	70.0	68.0					11																	57958840		2201	4296	6497	57715416	SO:0001583	missense	219957	exon1			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.878G>A	11.37:g.57958840G>A	ENSP00000308714:p.Arg293Lys		57715416	NM_001005283		Missense_Mutation	SNP	ENST00000311591.3	37	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511496	0.64522	.	.	ENSG00000186513	ENST00000311591	T	0.39997	1.05	5.09	5.09	0.68999	.	0.000000	0.50627	D	0.000108	T	0.57710	0.2072	L	0.57130	1.785	0.28993	N	0.887935	D	0.71674	0.998	D	0.74674	0.984	T	0.54918	-0.8221	10	0.59425	D	0.04	-14.9421	11.4564	0.50185	0.0819:0.0:0.9181:0.0	.	293	Q8NGE9	OR9Q2_HUMAN	K	293	ENSP00000308714:R293K	ENSP00000308714:R293K	R	+	2	0	OR9Q2	57715416	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	4.336000	0.59304	2.795000	0.96236	0.655000	0.94253	AGA		0.498	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283	
OR5B17	219965	broad.mit.edu	37	11	58125617	58125617	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:58125617G>A	ENST00000357377.3	-	1	925	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S309F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATCTAGAGAATATTTTGC	0.333																																					p.S309F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926T	11						.						89.0	89.0	89.0					11																	58125617		2201	4295	6496	57882193	SO:0001583	missense	219965	exon1			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.926C>T	11.37:g.58125617G>A	ENSP00000349945:p.Ser309Phe		57882193	NM_001005489	Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	9.359	1.067439	0.20067	.	.	ENSG00000197786	ENST00000357377	T	0.00367	7.77	2.58	0.354	0.16063	.	.	.	.	.	T	0.00241	0.0007	L	0.40543	1.245	0.09310	N	1	B	0.20671	0.047	B	0.23419	0.046	T	0.37572	-0.9700	9	0.56958	D	0.05	-5.2627	3.8664	0.09018	0.1418:0.0:0.6255:0.2327	.	309	Q8NGF7	OR5BH_HUMAN	F	309	ENSP00000349945:S309F	ENSP00000349945:S309F	S	-	2	0	OR5B17	57882193	.	.	0.044000	0.18714	0.270000	0.26580	.	.	0.306000	0.22856	0.297000	0.19635	TCT		0.333	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489	
OR5B12	390191	broad.mit.edu	37	11	58207358	58207358	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:58207358G>T	ENST00000302572.2	-	1	288	c.267C>A	c.(265-267)ttC>ttA	p.F89L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F89L(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATATAATATGAATTTGTCTC	0.453																																					p.F89L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C267A	11						.						68.0	65.0	66.0					11																	58207358		2201	4295	6496	57963934	SO:0001583	missense	390191	exon1			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.267C>A	11.37:g.58207358G>T	ENSP00000306657:p.Phe89Leu		57963934	NM_001004733	B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	5.386	0.256463	0.10185	.	.	ENSG00000172362	ENST00000302572	T	0.00545	6.67	4.75	-0.759	0.11045	GPCR, rhodopsin-like superfamily (1);	1.210100	0.05982	N	0.644303	T	0.00384	0.0012	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44221	-0.9342	10	0.62326	D	0.03	0.3669	4.1198	0.10099	0.1363:0.3413:0.4056:0.1167	.	89	Q96R08	OR5BC_HUMAN	L	89	ENSP00000306657:F89L	ENSP00000306657:F89L	F	-	3	2	OR5B12	57963934	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	-0.002000	0.12924	-0.199000	0.10317	-0.300000	0.09419	TTC		0.453	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
FAM111B	374393	broad.mit.edu	37	11	58892779	58892779	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:58892779G>A	ENST00000343597.3	+	4	1400	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	FAM111B_ENST00000529618.1_Silent_p.P373P|FAM111B_ENST00000411426.1_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	
OR4D6	219983	broad.mit.edu	37	11	59224492	59224492	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:59224492C>T	ENST00000300127.2	+	1	82	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S20F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTTACACGTTCCCGAGAGCTG	0.453																																					p.S20F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C59T	11						.						251.0	232.0	238.0					11																	59224492		2201	4295	6496	58981068	SO:0001583	missense	219983	exon1			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.59C>T	11.37:g.59224492C>T	ENSP00000300127:p.Ser20Phe		58981068	NM_001004708	B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	C	1.737	-0.492725	0.04322	.	.	ENSG00000166884	ENST00000300127	T	0.01099	5.34	5.9	1.01	0.19927	.	0.419028	0.20511	N	0.090887	T	0.00936	0.0031	N	0.25245	0.725	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47471	-0.9115	10	0.52906	T	0.07	-10.8775	5.8827	0.18864	0.0:0.3818:0.146:0.4722	.	20	Q8NGJ1	OR4D6_HUMAN	F	20	ENSP00000300127:S20F	ENSP00000300127:S20F	S	+	2	0	OR4D6	58981068	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.153000	0.01287	-0.071000	0.12886	-1.058000	0.02302	TCC		0.453	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708	
OR4D11	219986	broad.mit.edu	37	11	59271208	59271208	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:59271208C>T	ENST00000313253.1	+	1	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54C(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGTGAGTCTCGCCTTCACAC	0.498																																					p.R54C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C160T	11						.						205.0	199.0	201.0					11																	59271208		2201	4295	6496	59027784	SO:0001583	missense	219986	exon1			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.160C>T	11.37:g.59271208C>T	ENSP00000320077:p.Arg54Cys		59027784	NM_001004706		Missense_Mutation	SNP	ENST00000313253.1	37	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515226	0.27123	.	.	ENSG00000176200	ENST00000313253	T	0.01152	5.26	5.45	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.125586	0.36482	N	0.002574	T	0.02304	0.0071	M	0.70108	2.13	0.18873	N	0.999987	B	0.11235	0.004	B	0.14023	0.01	T	0.26883	-1.0090	10	0.48119	T	0.1	-10.5892	13.1502	0.59484	0.0:0.9217:0.0:0.0783	.	54	Q8NGI4	OR4DB_HUMAN	C	54	ENSP00000320077:R54C	ENSP00000320077:R54C	R	+	1	0	OR4D11	59027784	0.000000	0.05858	0.626000	0.29213	0.852000	0.48524	0.379000	0.20585	1.300000	0.44818	0.563000	0.77884	CGC		0.498	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706	
STX3	6809	broad.mit.edu	37	11	59556412	59556412	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:59556412A>C	ENST00000337979.4	+	4	828	c.281A>C	c.(280-282)aAa>aCa	p.K94T	STX3_ENST00000437946.2_5'UTR|STX3_ENST00000535361.1_Missense_Mutation_p.K94T|STX3_ENST00000300150.7_Missense_Mutation_p.K63T|STX3_ENST00000529177.1_Missense_Mutation_p.K94T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	94					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)	p.K94T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GTCCGGAACAAACTGAAGAGT	0.483																																					p.K94T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A281C	11						.						96.0	83.0	87.0					11																	59556412		2201	4295	6496	59312988	SO:0001583	missense	6809	exon4			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.281A>C	11.37:g.59556412A>C	ENSP00000338562:p.Lys94Thr		59312988	NM_001178040	B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910976	0.72983	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000529177;ENST00000528805	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	4.88	3.75	0.43078	t-SNARE (1);Syntaxin, N-terminal (2);	0.104280	0.64402	D	0.000006	T	0.45637	0.1352	M	0.88775	2.98	0.80722	D	1	D;D	0.58268	0.969;0.982	D;D	0.66196	0.942;0.942	T	0.49679	-0.8914	10	0.87932	D	0	-27.0991	6.6194	0.22794	0.8145:0.0:0.1855:0.0	.	94;94	B4DME0;Q13277	.;STX3_HUMAN	T	63;94;94;94;46	ENSP00000300150:K63T;ENSP00000338562:K94T;ENSP00000441649:K94T;ENSP00000433248:K94T;ENSP00000431386:K46T	ENSP00000300150:K63T	K	+	2	0	STX3	59312988	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.454000	0.60068	1.809000	0.52856	0.455000	0.32223	AAA		0.483	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177	
GIF	2694	broad.mit.edu	37	11	59611476	59611476	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:59611476C>A	ENST00000257248.2	-	2	179	c.132G>T	c.(130-132)gaG>gaT	p.E44D	GIF_ENST00000541311.1_Missense_Mutation_p.E19D	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	44					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.E44D(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TCACCGAGTTCTCCATGAGTA	0.512																																					p.E44D	NSCLC(53;1139 1245 16872 38474 42853)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G132T	11						.						122.0	107.0	112.0					11																	59611476		2201	4295	6496	59368052	SO:0001583	missense	2694	exon2			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.132G>T	11.37:g.59611476C>A	ENSP00000257248:p.Glu44Asp		59368052	NM_005142	B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678080	0.47886	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.35973	1.28;1.28	5.5	3.61	0.41365	.	0.000000	0.64402	D	0.000002	T	0.52709	0.1751	M	0.73962	2.25	0.35422	D	0.793343	D;D	0.89917	1.0;0.996	D;P	0.83275	0.996;0.863	T	0.59820	-0.7382	10	0.14656	T	0.56	-25.7535	8.7552	0.34641	0.0:0.823:0.0:0.177	.	44;44	B4DVY6;P27352	.;IF_HUMAN	D	44;19	ENSP00000257248:E44D;ENSP00000440427:E19D	ENSP00000257248:E44D	E	-	3	2	GIF	59368052	0.831000	0.29352	0.825000	0.32803	0.736000	0.42039	1.276000	0.33156	0.677000	0.31305	-0.136000	0.14681	GAG		0.512	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142	
MS4A2	2206	broad.mit.edu	37	11	59861468	59861468	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:59861468T>C	ENST00000278888.3	+	6	671	c.569T>C	c.(568-570)aTt>aCt	p.I190T		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	190					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.I190T(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTTCTCACCATTCTGGGACTT	0.393																																					p.I190T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T569C	11						.						122.0	109.0	113.0					11																	59861468		2201	4295	6496	59618044	SO:0001583	missense	2206	exon6			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.569T>C	11.37:g.59861468T>C	ENSP00000278888:p.Ile190Thr		59618044	NM_000139	Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039716	0.55003	.	.	ENSG00000149534	ENST00000278888	T	0.03242	4.0	4.23	4.23	0.50019	.	0.257299	0.37219	N	0.002194	T	0.15609	0.0376	M	0.85945	2.785	0.30944	N	0.725497	D	0.58970	0.984	P	0.61070	0.883	T	0.02251	-1.1188	10	0.66056	D	0.02	-7.8239	9.99	0.41865	0.0:0.0:0.0:1.0	.	190	Q01362	FCERB_HUMAN	T	190	ENSP00000278888:I190T	ENSP00000278888:I190T	I	+	2	0	MS4A2	59618044	0.990000	0.36364	1.000000	0.80357	0.622000	0.37654	3.080000	0.50112	2.131000	0.65755	0.467000	0.42956	ATT		0.393	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1		
MS4A8	83661	broad.mit.edu	37	11	60468341	60468341	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:60468341C>T	ENST00000300226.2	+	2	211	c.8C>T	c.(7-9)tCg>tTg	p.S3L		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	3						integral component of membrane (GO:0016021)		p.S3L(2)									AGCATGAATTCGATGACTTCA	0.458																																					p.S3L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8T	11						.						140.0	140.0	140.0					11																	60468341		2203	4300	6503	60224917	SO:0001583	missense	83661	exon2			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.8C>T	11.37:g.60468341C>T	ENSP00000300226:p.Ser3Leu		60224917	NM_031457	Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879347	0.33162	.	.	ENSG00000166959	ENST00000300226;ENST00000529752	T;T	0.16743	3.22;2.32	3.42	2.49	0.30216	.	1.016890	0.07937	N	0.978600	T	0.15003	0.0362	L	0.40543	1.245	0.09310	N	1	B;B	0.21452	0.056;0.015	B;B	0.12156	0.007;0.001	T	0.26883	-1.0090	10	0.59425	D	0.04	0.4409	6.9132	0.24346	0.0:0.8677:0.0:0.1323	.	3;3	E9PQE1;Q9BY19	.;M4A8B_HUMAN	L	3	ENSP00000300226:S3L;ENSP00000436857:S3L	ENSP00000300226:S3L	S	+	2	0	MS4A8B	60224917	0.001000	0.12720	0.015000	0.15790	0.052000	0.14988	1.420000	0.34804	0.775000	0.33450	-0.320000	0.08662	TCG		0.458	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		
MS4A8	83661	broad.mit.edu	37	11	60482508	60482508	+	Silent	SNP	G	G	A	rs142632950		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:60482508G>A	ENST00000300226.2	+	6	752	c.549G>A	c.(547-549)gcG>gcA	p.A183A		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	183						integral component of membrane (GO:0016021)		p.A183A(1)									CTGGAATGGCGATTTCTGGCG	0.577																																					p.A183A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G549A	11						.	G		0,4406		0,0,2203	146.0	104.0	119.0		549	-7.4	0.0	11	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MS4A8B	NM_031457.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		183/251	60482508	1,13005	2203	4300	6503	60239084	SO:0001819	synonymous_variant	83661	exon6			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.549G>A	11.37:g.60482508G>A			60239084	NM_031457	Q8TCA5	Silent	SNP	ENST00000300226.2	37	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164381	0.38217	0.0	1.16E-4	ENSG00000166959	ENST00000529752	T	0.15834	2.39	4.49	-7.44	0.01379	.	.	.	.	.	T	0.05823	0.0152	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39742	-0.9599	6	0.12430	T	0.62	-2.7186	4.6795	0.12727	0.1043:0.1772:0.5414:0.177	.	.	.	.	N	166	ENSP00000436857:D166N	ENSP00000436857:D166N	D	+	1	0	MS4A8B	60239084	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.301000	0.02749	-1.099000	0.03034	0.655000	0.94253	GAT		0.577	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		
ZP1	22917	broad.mit.edu	37	11	60635125	60635125	+	Missense_Mutation	SNP	G	G	A	rs369601739	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:60635125G>A	ENST00000278853.5	+	1	91	c.91G>A	c.(91-93)Gac>Aac	p.D31N		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	31					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)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTCCAGCCCGACCCTGGCCT	0.662													g|||	4	0.000798722	0.0023	0.0014	5008	,	,		18223	0.0		0.0	False		,,,				2504	0.0				p.D31N												.	.	0			c.G91A	11						.	A	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	55.0	48.0	50.0		91	-1.8	0.0	11		50	0,8598		0,0,4299	no	missense	ZP1	NM_207341.2	23	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	31/639	60635125	2,13002	2203	4299	6502	60391701	SO:0001583	missense	22917	exon1			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.91G>A	11.37:g.60635125G>A	ENSP00000278853:p.Asp31Asn		60391701	NM_207341		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	g	11.18	1.562660	0.27915	4.54E-4	0.0	ENSG00000149506	ENST00000278853	T	0.21932	1.98	3.7	-1.78	0.07957	.	3.162020	0.01196	N	0.007458	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B	0.31040	0.305	B	0.18561	0.022	T	0.19910	-1.0291	10	0.40728	T	0.16	-0.1063	8.1095	0.30907	0.4826:0.0:0.5174:0.0	.	31	P60852	ZP1_HUMAN	N	31	ENSP00000278853:D31N	ENSP00000278853:D31N	D	+	1	0	ZP1	60391701	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.560000	0.00921	-0.666000	0.05310	-1.226000	0.01582	GAC		0.662	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
PRPF19	27339	broad.mit.edu	37	11	60658712	60658712	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:60658712C>T	ENST00000227524.4	-	16	1646	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.V481M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCGAAGGCCACCCCTGTGGTC	0.522																																					p.V481M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1441A	11						.						75.0	65.0	68.0					11																	60658712		2203	4299	6502	60415288	SO:0001583	missense	27339	exon16			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1441G>A	11.37:g.60658712C>T	ENSP00000227524:p.Val481Met		60415288	NM_014502		Missense_Mutation	SNP	ENST00000227524.4	37	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302564	0.95601	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	D;T	0.83837	-1.77;-0.16	5.3	5.3	0.74995	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	0.91081	0.7193	M	0.86502	2.82	0.80722	D	1	P	0.42620	0.785	P	0.56216	0.794	D	0.91956	0.5575	10	0.72032	D	0.01	-16.8123	16.9259	0.86176	0.0:1.0:0.0:0.0	.	481	Q9UMS4	PRP19_HUMAN	M	481;96	ENSP00000227524:V481M;ENSP00000445435:V96M	ENSP00000227524:V481M	V	-	1	0	PRPF19	60415288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.777000	0.75028	2.763000	0.94921	0.637000	0.83480	GTG		0.522	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	
VPS37C	55048	broad.mit.edu	37	11	60899522	60899522	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:60899522A>G	ENST00000301765.5	-	5	1070	c.838T>C	c.(838-840)Tct>Cct	p.S280P		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	280	Pro-rich.				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.S280P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCAGGCCCAGAGGCACCCATT	0.662																																					p.S280P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T838C	11						.						18.0	20.0	20.0					11																	60899522		2128	4151	6279	60656098	SO:0001583	missense	55048	exon5			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.838T>C	11.37:g.60899522A>G	ENSP00000301765:p.Ser280Pro		60656098	NM_017966	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	A	8.038	0.763298	0.15914	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.48522	0.81	4.66	3.51	0.40186	.	0.342187	0.27048	N	0.021194	T	0.35248	0.0925	L	0.29908	0.895	0.22745	N	0.998784	P	0.51240	0.943	B	0.43575	0.424	T	0.11179	-1.0598	10	0.29301	T	0.29	-18.613	10.3302	0.43818	0.6848:0.3152:0.0:0.0	.	280	A5D8V6	VP37C_HUMAN	P	280	ENSP00000301765:S280P	ENSP00000301765:S280P	S	-	1	0	VPS37C	60656098	0.021000	0.18746	0.883000	0.34634	0.087000	0.18053	-0.031000	0.12287	0.621000	0.30232	0.260000	0.18958	TCT		0.662	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966	
VWCE	220001	broad.mit.edu	37	11	61032043	61032043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:61032043C>A	ENST00000335613.5	-	19	2532	c.2146G>T	c.(2146-2148)Gag>Tag	p.E716*	VWCE_ENST00000535710.1_Nonsense_Mutation_p.E181*	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	716	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E716*(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGCTCACCTCTCCCAGCTGG	0.642																																					p.E716X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2146T	11						.						40.0	36.0	37.0					11																	61032043		2203	4299	6502	60788619	SO:0001587	stop_gained	220001	exon19			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2146G>T	11.37:g.61032043C>A	ENSP00000334186:p.Glu716*		60788619	NM_152718	A5PKV0|Q7Z7L6|Q86WK8	Nonsense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	43	9.858882	0.99281	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	.	.	.	4.76	4.76	0.60689	.	0.000000	0.39544	N	0.001336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	14.5258	0.67887	0.0:1.0:0.0:0.0	.	.	.	.	X	716;181	.	ENSP00000334186:E716X	E	-	1	0	VWCE	60788619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.618000	0.61211	2.188000	0.69820	0.555000	0.69702	GAG		0.642	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
TAF6L	10629	broad.mit.edu	37	11	62549389	62549389	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:62549389G>A	ENST00000294168.3	+	7	756	c.555G>A	c.(553-555)acG>acA	p.T185T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	185					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.T185T(1)		endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						ACTTGCAGACGAACTCCAAGA	0.468																																					p.T185T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G555A	11						.						97.0	88.0	91.0					11																	62549389		2201	4299	6500	62305965	SO:0001819	synonymous_variant	10629	exon7			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.555G>A	11.37:g.62549389G>A			62305965	NM_006473	B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	CCDS8035.1																																																																																				0.468	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473	
SLC3A2	6520	broad.mit.edu	37	11	62652677	62652677	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:62652677G>A	ENST00000377890.2	+	9	1318	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	SLC3A2_ENST00000338663.7_Missense_Mutation_p.D283N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D353N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D385N|SLC3A2_ENST00000377892.1_Missense_Mutation_p.D415N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D322N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	384					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.D415N(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TAACTCCTCCGACCTTCAGCA	0.527																																					p.D384N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1150A	11						.						112.0	104.0	107.0					11																	62652677		2201	4298	6499	62409253	SO:0001583	missense	6520	exon9				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1150G>A	11.37:g.62652677G>A	ENSP00000367122:p.Asp384Asn		62409253	NM_002394	Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	CCDS8039.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.02|13.02	2.113339|2.113339	0.37339|0.37339	.|.	.|.	ENSG00000168003|ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606|ENST00000539507	D;D;D;D;D;D|.	0.98493|.	-4.89;-4.89;-4.89;-4.89;-4.96;-4.89|.	4.57|4.57	2.37|2.37	0.29283|0.29283	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	1.724360|.	0.02779|.	N|.	0.120625|.	T|T	0.55862|0.55862	0.1947|0.1947	M|M	0.83483|0.83483	2.645|2.645	0.25593|0.25593	N|N	0.986671|0.986671	B;B;B;B;B|.	0.18863|.	0.009;0.015;0.008;0.031;0.018|.	B;B;B;B;B|.	0.10450|.	0.001;0.005;0.004;0.002;0.002|.	T|T	0.51325|0.51325	-0.8720|-0.8720	10|5	0.34782|.	T|.	0.22|.	-13.4732|-13.4732	4.7449|4.7449	0.13033|0.13033	0.1369:0.2138:0.6493:0.0|0.1369:0.2138:0.6493:0.0	.|.	322;353;384;283;415|.	P08195-3;F5GZS6;P08195;P08195-2;P08195-4|.	.;.;4F2_HUMAN;.;.|.	N|Q	415;385;384;385;322;353;283;265|10	ENSP00000367124:D415N;ENSP00000367123:D385N;ENSP00000367122:D384N;ENSP00000367121:D322N;ENSP00000444236:D353N;ENSP00000340815:D283N|.	ENSP00000340815:D283N|.	D|R	+|+	1|2	0|0	SLC3A2|SLC3A2	62409253|62409253	0.018000|0.018000	0.18449|0.18449	0.975000|0.975000	0.42487|0.42487	0.725000|0.725000	0.41563|0.41563	0.309000|0.309000	0.19332|0.19332	0.775000|0.775000	0.33450|0.33450	0.313000|0.313000	0.20887|0.20887	GAC|CGA		0.527	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661	
SLC22A8	9376	broad.mit.edu	37	11	62782283	62782283	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:62782283G>A	ENST00000336232.2	-	2	283	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	SLC22A8_ENST00000430500.2_Missense_Mutation_p.R50C|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.R50C	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	50					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.R50C(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGGGGCGGGCGACAGTGGTGG	0.617																																					p.R50C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148T	11						.						166.0	175.0	172.0					11																	62782283		2201	4298	6499	62538859	SO:0001583	missense	9376	exon2			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.148C>T	11.37:g.62782283G>A	ENSP00000337335:p.Arg50Cys		62538859	NM_001184732	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486082	0.44147	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	T;T;T	0.60672	0.17;0.17;0.17	5.14	4.19	0.49359	.	0.315356	0.35436	N	0.003209	T	0.73249	0.3563	M	0.88241	2.94	0.21473	N	0.999673	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.836	T	0.65429	-0.6170	10	0.45353	T	0.12	.	7.225	0.26010	0.0904:0.1722:0.7374:0.0	.	50;50	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	C	50;36;50;50	ENSP00000337335:R50C;ENSP00000311463:R50C;ENSP00000398548:R50C	ENSP00000311463:R50C	R	-	1	0	SLC22A8	62538859	0.999000	0.42202	0.944000	0.38274	0.126000	0.20510	4.126000	0.57937	2.659000	0.90383	0.655000	0.94253	CGC		0.617	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	
SLC22A9	114571	broad.mit.edu	37	11	63141498	63141498	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:63141498T>C	ENST00000279178.3	+	4	1043	c.794T>C	c.(793-795)gTg>gCg	p.V265A	SLC22A9_ENST00000310969.4_Silent_p.G213G	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	265					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.V265A(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CAGCTGGTGGTGTCTGTACCA	0.433																																					p.V265A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T794C	11						.						119.0	95.0	103.0					11																	63141498		2201	4298	6499	62898074	SO:0001583	missense	114571	exon4			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.794T>C	11.37:g.63141498T>C	ENSP00000279178:p.Val265Ala		62898074	NM_080866	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	T	9.835	1.189558	0.21954	.	.	ENSG00000149742	ENST00000279178	T	0.56941	0.43	4.45	1.99	0.26369	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.551914	0.17753	N	0.163177	T	0.45875	0.1364	M	0.70275	2.135	0.09310	N	1	B	0.23128	0.08	B	0.24006	0.05	T	0.45687	-0.9244	10	0.51188	T	0.08	.	3.0792	0.06256	0.1775:0.194:0.0:0.6284	.	265	Q8IVM8	S22A9_HUMAN	A	265	ENSP00000279178:V265A	ENSP00000279178:V265A	V	+	2	0	SLC22A9	62898074	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	1.637000	0.37155	0.301000	0.22738	0.432000	0.28606	GTG		0.433	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866	
RTN3	10313	broad.mit.edu	37	11	63486932	63486932	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:63486932G>T	ENST00000377819.5	+	3	1112	c.958G>T	c.(958-960)Gca>Tca	p.A320S	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.A208S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.A301S	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	320					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A301S(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACACACAAATGCAGCACTGGA	0.433																																					p.A301S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G901T	11						.						87.0	87.0	87.0					11																	63486932		2201	4298	6499	63243508	SO:0001583	missense	10313	exon2			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.958G>T	11.37:g.63486932G>T	ENSP00000367050:p.Ala320Ser		63243508	NM_201428	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433202	0.83776	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.17528	2.27;2.27;2.27	5.98	5.98	0.97165	.	0.151174	0.43110	D	0.000620	T	0.31389	0.0795	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.996	T	0.00518	-1.1693	10	0.34782	T	0.22	-22.1779	15.9521	0.79846	0.0:0.0:1.0:0.0	.	208;320;301	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	S	320;301;208	ENSP00000367050:A320S;ENSP00000344106:A301S;ENSP00000442733:A208S	ENSP00000344106:A301S	A	+	1	0	RTN3	63243508	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	4.195000	0.58400	2.838000	0.97847	0.591000	0.81541	GCA		0.433	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
NRXN2	9379	broad.mit.edu	37	11	64410073	64410073	+	Intron	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:64410073C>T	ENST00000377551.1	-	16	3615				NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000301894.2_Missense_Mutation_p.S68N|NRXN2_ENST00000377559.3_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2						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)			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						GCCGTGCTTGCTGTGGAAGTG	0.697																																					p.S68N												.	.	0			c.G203A	11						.						51.0	40.0	44.0					11																	64410073		2201	4297	6498	64166649	SO:0001627	intron_variant	9379	exon1				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.3403+5617G>A	11.37:g.64410073C>T			64166649	NM_138734	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	c	13.63	2.294883	0.40594	.	.	ENSG00000110076	ENST00000301894;ENST00000423049	T;T	0.55930	0.49;1.29	1.81	1.81	0.25067	.	.	.	.	.	T	0.17492	0.0420	N	0.00707	-1.245	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04347	-1.0958	9	0.33141	T	0.24	.	4.8053	0.13317	0.0:0.7873:0.0:0.2127	.	68	P58401	NRX2B_HUMAN	N	68;29	ENSP00000301894:S68N;ENSP00000407374:S29N	ENSP00000301894:S68N	S	-	2	0	NRXN2	64166649	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.346000	0.33964	0.936000	0.37367	0.176000	0.17051	AGC		0.697	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
RASGRP2	10235	broad.mit.edu	37	11	64508441	64508441	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:64508441C>T	ENST00000354024.3	-	5	602	c.350G>A	c.(349-351)aGc>aAc	p.S117N	RASGRP2_ENST00000377486.3_Missense_Mutation_p.S117N|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394432.3_Missense_Mutation_p.S117N|RASGRP2_ENST00000377489.1_Missense_Mutation_p.S117N|RASGRP2_ENST00000377487.1_Missense_Mutation_p.S117N|RASGRP2_ENST00000377494.1_Missense_Mutation_p.S117N|RASGRP2_ENST00000377497.3_Missense_Mutation_p.S117N|RASGRP2_ENST00000394430.1_Missense_Mutation_p.S117N|RASGRP2_ENST00000394428.1_3'UTR	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	117	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.S179N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCGATTAGGCTGCTGTGCCG	0.552											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S117N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G350A	11						.						77.0	61.0	66.0					11																	64508441		2201	4297	6498	64265017	SO:0001583	missense	10235	exon5			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.350G>A	11.37:g.64508441C>T	ENSP00000338864:p.Ser117Asn	1077	64265017	NM_001098670	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296503	0.23650	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594	T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	4.17	3.24	0.37175	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.283692	0.40064	N	0.001196	T	0.20088	0.0483	L	0.35854	1.095	0.28471	N	0.915435	B	0.02656	0.0	B	0.04013	0.001	T	0.16247	-1.0409	10	0.20046	T	0.44	-3.1626	7.1386	0.25543	0.0:0.7848:0.0:0.2152	.	117	Q7LDG7	GRP2_HUMAN	N	117	ENSP00000366714:S117N;ENSP00000377953:S117N;ENSP00000366717:S117N;ENSP00000338864:S117N;ENSP00000399114:S117N;ENSP00000366706:S117N;ENSP00000366707:S117N;ENSP00000366709:S117N;ENSP00000377951:S117N	ENSP00000338864:S117N	S	-	2	0	RASGRP2	64265017	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	0.812000	0.27211	0.843000	0.35070	0.313000	0.20887	AGC		0.552	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	
PCNXL3	399909	broad.mit.edu	37	11	65390989	65390989	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:65390989C>T	ENST00000355703.3	+	12	2924	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	795						integral component of membrane (GO:0016021)		p.F676F(2)|p.F795F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGAACATCTTCGGCGTGGGCC	0.617																																					p.F795F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2385T	11						.						58.0	65.0	62.0					11																	65390989		2100	4202	6302	65147565	SO:0001819	synonymous_variant	399909	exon12			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2385C>T	11.37:g.65390989C>T			65147565	NM_032223	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																				0.617	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	
CTSW	1521	broad.mit.edu	37	11	65648879	65648879	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:65648879G>A	ENST00000307886.3	+	3	220	c.174G>A	c.(172-174)gaG>gaA	p.E58E	CTSW_ENST00000528419.1_Splice_Site_p.E58E	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	58					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)	p.E58E(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		TTGGTCCAGAGCATGCTCACC	0.607																																					p.E58E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G174A	11						.						159.0	148.0	152.0					11																	65648879		2201	4296	6497	65405455	SO:0001630	splice_region_variant	1521	exon3			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.173-1G>A	11.37:g.65648879G>A			65405455	NM_001335	Q86VT4	Silent	SNP	ENST00000307886.3	37	CCDS8117.1																																																																																				0.607	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335	Silent
CATSPER1	117144	broad.mit.edu	37	11	65793525	65793525	+	Missense_Mutation	SNP	C	C	T	rs150298490		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:65793525C>T	ENST00000312106.5	-	1	463	c.326G>A	c.(325-327)cGt>cAt	p.R109H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	109	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.R109H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACCGTAGGAACGGTGGGAGGG	0.602																																					p.R109H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G326A	11						.	C	HIS/ARG	0,4402		0,0,2201	117.0	108.0	111.0		326	-2.2	0.0	11	dbSNP_134	111	1,8591	1.2+/-3.3	0,1,4295	no	missense	CATSPER1	NM_053054.3	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	109/781	65793525	1,12993	2201	4296	6497	65550101	SO:0001583	missense	117144	exon1			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.326G>A	11.37:g.65793525C>T	ENSP00000309052:p.Arg109His		65550101	NM_053054	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	c	0.063	-1.218877	0.01542	0.0	1.16E-4	ENSG00000175294	ENST00000312106	D	0.96200	-3.94	3.8	-2.24	0.06909	.	1.084890	0.07336	N	0.879937	T	0.74419	0.3714	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73313	-0.4022	10	0.02654	T	1	-2.1088	1.8504	0.03168	0.1517:0.1005:0.3509:0.3969	.	109	Q8NEC5	CTSR1_HUMAN	H	109	ENSP00000309052:R109H	ENSP00000309052:R109H	R	-	2	0	CATSPER1	65550101	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.281000	0.08456	-0.560000	0.06102	-1.699000	0.00722	CGT		0.602	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	
BRMS1	25855	broad.mit.edu	37	11	66108473	66108473	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:66108473C>T	ENST00000359957.3	-	5	563	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.E135K	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	135					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)	p.E135K(1)		large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						AGCTCACATTCGTACTTATTC	0.597																																					p.E135K	GBM(7;55 307 2662 20856 28942)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G403A	11						.						83.0	71.0	75.0					11																	66108473		2200	4295	6495	65865049	SO:0001583	missense	25855	exon5			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.403G>A	11.37:g.66108473C>T	ENSP00000353042:p.Glu135Lys		65865049	NM_015399	Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	CCDS8135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.511152|4.511152	0.85389|0.85389	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756|ENST00000524699	.|.	.|.	.|.	4.27|4.27	3.34|3.34	0.38264|0.38264	.|.	0.054534|.	0.64402|.	D|.	0.000001|.	T|T	0.64011|0.64011	0.2560|0.2560	L|L	0.61387|0.61387	1.9|1.9	0.51482|0.51482	D|D	0.999926|0.999926	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.71870|.	0.975;0.957|.	T|T	0.62774|0.62774	-0.6783|-0.6783	9|5	0.08381|.	T|.	0.77|.	-22.4421|-22.4421	12.1068|12.1068	0.53818|0.53818	0.0:0.8247:0.1753:0.0|0.0:0.8247:0.1753:0.0	.|.	135;135|.	Q9HCU9;G5E9I4|.	BRMS1_HUMAN;.|.	K|Q	135|97	.|.	ENSP00000353042:E135K|.	E|R	-|-	1|2	0|0	BRMS1|BRMS1	65865049|65865049	0.999000|0.999000	0.42202|0.42202	0.936000|0.936000	0.37596|0.37596	0.955000|0.955000	0.61496|0.61496	4.575000|4.575000	0.60908|0.60908	1.152000|1.152000	0.42452|0.42452	0.455000|0.455000	0.32223|0.32223	GAA|CGA		0.597	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399	
BBS1	582	broad.mit.edu	37	11	66282147	66282147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:66282147G>T	ENST00000318312.7	+	4	481	c.430G>T	c.(430-432)Gag>Tag	p.E144*	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Nonsense_Mutation_p.E144*|BBS1_ENST00000537537.1_Missense_Mutation_p.K47N|BBS1_ENST00000393994.2_Nonsense_Mutation_p.E144*|CTD-3074O7.11_ENST00000419755.3_Nonsense_Mutation_p.E181*	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	144					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.E144*(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						CCAGGCCAAAGAGGTAAATAA	0.507									Bardet-Biedl syndrome																												p.E144X	GBM(152;173 2612 9770 10137)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G430T	11						.						62.0	60.0	61.0					11																	66282147		2200	4295	6495	66038723	SO:0001587	stop_gained	582	exon4	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.430G>T	11.37:g.66282147G>T	ENSP00000317469:p.Glu144*		66038723	NM_024649	Q32MM9|Q32MN0|Q96SN4	Nonsense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.965249|4.965249	0.92855|0.92855	.|.	.|.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483|ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994;ENST00000524705|ENST00000537537	.|D	.|0.83992	.|-1.79	4.95|4.95	4.04|4.04	0.47022|0.47022	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81559	.|0.4848	.|.	.|.	.|.	0.27309|0.27309	N|N	0.957374|0.957374	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72613	.|-0.4240	.|6	0.38643|0.39692	T|T	0.18|0.17	.|.	11.0208|11.0208	0.47718|0.47718	0.0914:0.0:0.9086:0.0|0.0914:0.0:0.9086:0.0	.|.	.|.	.|.	.|.	X|N	181;144;144;144;51|47	.|ENSP00000439873:K47N	ENSP00000317469:E144X|ENSP00000439873:K47N	E|K	+|+	1|3	0|2	BBS1;CTD-3074O7.11|BBS1	66038723|66038723	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.820000|0.820000	0.46376|0.46376	5.871000|5.871000	0.69628|0.69628	1.211000|1.211000	0.43351|0.43351	0.558000|0.558000	0.71614|0.71614	GAG|AAG		0.507	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2		
ZDHHC24	254359	broad.mit.edu	37	11	66311418	66311418	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:66311418G>A	ENST00000310442.3	-	2	550	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	ZDHHC24_ENST00000526986.1_Missense_Mutation_p.R106C|ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA|ZDHHC24_ENST00000525925.1_5'UTR	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	106						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R106C(1)		endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						TGTCCGCTGCGTGGCGGCACC	0.647											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R106C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C316T	11						.						45.0	52.0	50.0					11																	66311418		2199	4295	6494	66067994	SO:0001583	missense	254359	exon2			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.316C>T	11.37:g.66311418G>A	ENSP00000309429:p.Arg106Cys	1090	66067994	NM_207340	Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386323	0.82902	.	.	ENSG00000174165	ENST00000526986;ENST00000310442	T;T	0.38560	1.13;1.13	3.53	3.53	0.40419	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.076337	0.51477	D	0.000082	T	0.70745	0.3259	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78155	-0.2314	10	0.87932	D	0	-20.6207	10.7388	0.46141	0.0:0.0:1.0:0.0	.	106;106	E9PLR9;Q6UX98	.;ZDH24_HUMAN	C	106	ENSP00000431321:R106C;ENSP00000309429:R106C	ENSP00000309429:R106C	R	-	1	0	ZDHHC24	66067994	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.866000	0.87056	1.975000	0.57531	0.462000	0.41574	CGC		0.647	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340	
ALDH3B1	221	broad.mit.edu	37	11	67790146	67790146	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:67790146G>A	ENST00000539229.1	+	10	1143	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.V307M|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.V343M|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	345					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CATCGTGAACGTGCAGAGCTT	0.652																																					p.R344H												.	.	0			c.G1031A	11						.						126.0	112.0	117.0					11																	67790146		2200	4294	6494	67546722	SO:0001583	missense	221	exon8			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.1027G>A	11.37:g.67790146G>A	ENSP00000474034:p.Val343Met		67546722	NM_000694	A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37																																																																																					0.652	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694	
PPP6R3	55291	broad.mit.edu	37	11	68315661	68315661	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:68315661G>A	ENST00000393800.2	+	5	795	c.541G>A	c.(541-543)Gat>Aat	p.D181N	PPP6R3_ENST00000529710.1_Missense_Mutation_p.D181N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D181N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D181N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D90N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D181N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D181N|PPP6R3_ENST00000393799.2_Missense_Mutation_p.D181N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D181N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D181N	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	181					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.D181N(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						GCCCAGGCAAGATGTGCTGAA	0.493																																					p.D181N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G541A	11						.						148.0	142.0	144.0					11																	68315661		2200	4294	6494	68072237	SO:0001583	missense	55291	exon6			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.541G>A	11.37:g.68315661G>A	ENSP00000377389:p.Asp181Asn		68072237	NM_001164164	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404301	0.96051	.	.	ENSG00000110075	ENST00000393799;ENST00000413788;ENST00000393800;ENST00000529907;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.16;-0.16;3.61;-0.26;-0.16;-0.16;-0.16;-0.16;-0.26;-0.26;-0.16	5.3	5.3	0.74995	.	0.086178	0.85682	D	0.000000	T	0.64538	0.2607	L	0.37750	1.13	0.80722	D	1	P;B;B;B;B;P;P	0.45634	0.863;0.001;0.001;0.221;0.004;0.688;0.558	B;B;B;B;B;P;B	0.46049	0.428;0.014;0.009;0.339;0.034;0.502;0.268	T	0.61559	-0.7038	10	0.31617	T	0.26	.	19.1566	0.93514	0.0:0.0:1.0:0.0	.	90;181;181;181;181;181;181	E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;PP6R3_HUMAN;.;.	N	181;90;181;90;90;181;181;181;181;181;181;181;181	ENSP00000377388:D181N;ENSP00000377389:D181N;ENSP00000431738:D90N;ENSP00000434429:D90N;ENSP00000431415:D181N;ENSP00000265637:D181N;ENSP00000433058:D181N;ENSP00000377390:D181N;ENSP00000265636:D181N;ENSP00000437329:D181N;ENSP00000433565:D181N	ENSP00000265636:D181N	D	+	1	0	PPP6R3	68072237	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	9.502000	0.97981	2.763000	0.94921	0.561000	0.74099	GAT		0.493	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	
PPP6R3	55291	broad.mit.edu	37	11	68343482	68343482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:68343482G>T	ENST00000393800.2	+	14	1770	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*	PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.E455*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.E506*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.E506*|PPP6R3_ENST00000534534.1_Nonsense_Mutation_p.E274*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.E455*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.E506*|PPP6R3_ENST00000393799.2_Nonsense_Mutation_p.E506*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.E506*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.E506*	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	506					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.E455*(1)|p.E506*(1)		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						CTCCTTAGGAGAAACTAACAA	0.413																																					p.E455X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1363T	11						.						154.0	145.0	148.0					11																	68343482		2200	4294	6494	68100058	SO:0001587	stop_gained	55291	exon14			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.1516G>T	11.37:g.68343482G>T	ENSP00000377389:p.Glu506*		68100058	NM_001164164	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Nonsense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723895	0.98929	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	.	.	.	5.89	5.89	0.94794	.	0.049625	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.2356	0.93858	0.0:0.0:1.0:0.0	.	.	.	.	X	506;506;274;506;506;506;506;455;455;506;242	.	ENSP00000265636:E455X	E	+	1	0	PPP6R3	68100058	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.444000	0.90323	2.763000	0.94921	0.655000	0.94253	GAA		0.413	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	
PPFIA1	8500	broad.mit.edu	37	11	70118531	70118531	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:70118531G>A	ENST00000253925.7	+	2	468	c.253G>A	c.(253-255)Gca>Aca	p.A85T	PPFIA1_ENST00000389547.3_Missense_Mutation_p.A85T	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	85					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.A85T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCTCAACACGGCACTTCCACA	0.403																																					p.A85T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	11						.						103.0	99.0	101.0					11																	70118531		2200	4294	6494	69796179	SO:0001583	missense	8500	exon2			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.253G>A	11.37:g.70118531G>A	ENSP00000253925:p.Ala85Thr		69796179	NM_003626	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637546	0.67130	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746;ENST00000532024	T;T;T;T	0.52057	1.16;1.16;1.16;0.68	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000003	T	0.48696	0.1514	L	0.52266	1.64	0.80722	D	1	P;P	0.41597	0.458;0.756	B;P	0.44811	0.212;0.461	T	0.36866	-0.9730	10	0.15499	T	0.54	.	18.3704	0.90405	0.0:0.0:1.0:0.0	.	85;85	Q13136;Q13136-2	LIPA1_HUMAN;.	T	85	ENSP00000253925:A85T;ENSP00000374198:A85T;ENSP00000432722:A85T;ENSP00000432065:A85T	ENSP00000253925:A85T	A	+	1	0	PPFIA1	69796179	1.000000	0.71417	0.347000	0.25668	0.983000	0.72400	7.545000	0.82128	2.328000	0.79073	0.638000	0.83543	GCA		0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
FOLR1	2348	broad.mit.edu	37	11	71903260	71903260	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:71903260T>C	ENST00000393679.1	+	2	479	c.43T>C	c.(43-45)Tgg>Cgg	p.W15R	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.W15R|FOLR1_ENST00000393681.2_Missense_Mutation_p.W15R|FOLR1_ENST00000393676.3_Missense_Mutation_p.W15R			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	15					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)	p.W15R(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CCTTCTAGTGTGGGTGGCTGT	0.567																																					p.W15R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T43C	11						.						129.0	114.0	119.0					11																	71903260		2200	4293	6493	71580908	SO:0001583	missense	2348	exon3			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.43T>C	11.37:g.71903260T>C	ENSP00000377284:p.Trp15Arg		71580908	NM_016724	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	-	12.00	1.806864	0.31961	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	4.36	-2.08	0.07254	.	1.458410	0.04012	N	0.298301	T	0.51924	0.1703	N	0.08118	0	0.09310	N	1	B	0.32653	0.379	B	0.30029	0.11	T	0.44574	-0.9319	10	0.44086	T	0.13	-12.3964	5.9341	0.19154	0.0:0.1662:0.4824:0.3514	.	15	P15328	FOLR1_HUMAN	R	15	ENSP00000308137:W15R;ENSP00000377286:W15R;ENSP00000377284:W15R;ENSP00000377281:W15R	ENSP00000308137:W15R	W	+	1	0	FOLR1	71580908	0.508000	0.26154	0.000000	0.03702	0.182000	0.23217	0.226000	0.17776	-0.382000	0.07870	-0.323000	0.08544	TGG		0.567	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725	
C2CD3	26005	broad.mit.edu	37	11	73814389	73814389	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:73814389A>C	ENST00000334126.7	-	14	2593	c.2367T>G	c.(2365-2367)aaT>aaG	p.N789K	C2CD3_ENST00000313663.7_Missense_Mutation_p.N789K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	789					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.N789K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GATTGACTAAATTATGGGAGG	0.468																																					p.N789K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2367G	11						.						184.0	159.0	167.0					11																	73814389		2200	4293	6493	73492037	SO:0001583	missense	26005	exon14			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2367T>G	11.37:g.73814389A>C	ENSP00000334379:p.Asn789Lys		73492037	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	A	14.03	2.414077	0.42817	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.09163	3.01;3.02	5.82	4.68	0.58851	.	0.410179	0.25759	N	0.028490	T	0.10852	0.0265	L	0.54323	1.7	0.09310	N	1	B	0.27068	0.167	B	0.28011	0.085	T	0.25847	-1.0120	10	0.39692	T	0.17	-2.4322	5.564	0.17160	0.7076:0.15:0.1424:0.0	.	789	Q4AC94-1	.	K	789	ENSP00000334379:N789K;ENSP00000323339:N789K	ENSP00000323339:N789K	N	-	3	2	C2CD3	73492037	0.000000	0.05858	0.021000	0.16686	0.126000	0.20510	0.387000	0.20718	1.000000	0.39049	0.533000	0.62120	AAT		0.468	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
POLD3	10714	broad.mit.edu	37	11	74329822	74329822	+	Silent	SNP	G	G	A	rs370291355		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:74329822G>A	ENST00000263681.2	+	6	762	c.633G>A	c.(631-633)acG>acA	p.T211T	POLD3_ENST00000532497.1_Silent_p.T105T|POLD3_ENST00000527458.1_Silent_p.T172T	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	211					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|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)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)	p.T211T(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACAAGGAAACGAAAACAGAGG	0.443																																					p.T211T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G633A	11						.	G		0,4400		0,0,2200	72.0	69.0	70.0		633	-0.1	1.0	11		70	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	POLD3	NM_006591.1		0,1,6492	AA,AG,GG		0.0116,0.0,0.0077		211/467	74329822	1,12985	2200	4293	6493	74007470	SO:0001819	synonymous_variant	10714	exon6			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.633G>A	11.37:g.74329822G>A			74007470	NM_006591	B7ZAI6|Q32MZ9|Q32N00	Silent	SNP	ENST00000263681.2	37	CCDS8233.1																																																																																				0.443	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591	
DGAT2	84649	broad.mit.edu	37	11	75511496	75511496	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:75511496C>T	ENST00000228027.7	+	8	1370	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	RP11-535A19.1_ENST00000534354.1_RNA|DGAT2_ENST00000376262.3_Silent_p.F327F|RP11-535A19.2_ENST00000533945.1_RNA	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	370					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.F370F(1)		endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					TGAAGCTCTTCGACAAGCACA	0.587																																					p.F370F	Melanoma(35;811 1096 8354 24009 39363)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1110T	11						.						115.0	91.0	99.0					11																	75511496		2200	4293	6493	75189144	SO:0001819	synonymous_variant	84649	exon8				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.1110C>T	11.37:g.75511496C>T			75189144	NM_032564	A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Silent	SNP	ENST00000228027.7	37	CCDS31642.1																																																																																				0.587	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564	
UVRAG	7405	broad.mit.edu	37	11	75562965	75562965	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:75562965A>G	ENST00000356136.3	+	2	396	c.155A>G	c.(154-156)aAc>aGc	p.N52S	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	52	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.N52S(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GCTGCCCGGAACATTGTTAAT	0.388																																					p.N52S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A155G	11						.						133.0	134.0	134.0					11																	75562965		2200	4293	6493	75240613	SO:0001583	missense	7405	exon2			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.155A>G	11.37:g.75562965A>G	ENSP00000348455:p.Asn52Ser		75240613	NM_003369	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410336	0.83340	.	.	ENSG00000198382	ENST00000356136	T	0.51325	0.71	5.86	5.86	0.93980	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65961	-0.6041	10	0.87932	D	0	-19.032	14.206	0.65734	1.0:0.0:0.0:0.0	.	52	Q9P2Y5	UVRAG_HUMAN	S	52	ENSP00000348455:N52S	ENSP00000348455:N52S	N	+	2	0	UVRAG	75240613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.257000	0.78362	2.232000	0.73038	0.533000	0.62120	AAC		0.388	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
C11orf30	56946	broad.mit.edu	37	11	76256898	76256898	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:76256898C>T	ENST00000529032.1	+	19	3331	c.3331C>T	c.(3331-3333)Cgc>Tgc	p.R1111C	C11orf30_ENST00000525919.1_Missense_Mutation_p.R1112C|C11orf30_ENST00000525038.1_Missense_Mutation_p.R1112C|C11orf30_ENST00000334736.3_Missense_Mutation_p.R1111C|C11orf30_ENST00000524490.1_Missense_Mutation_p.R1013C|C11orf30_ENST00000524767.1_Missense_Mutation_p.R1126C|C11orf30_ENST00000533248.1_Missense_Mutation_p.R1020C|C11orf30_ENST00000343878.3_Intron			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1111					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R1111C(3)		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						TTTTGAGGGGCGCCAGCCTCC	0.453																																					p.R1111C												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C3331T	11						.						70.0	72.0	71.0					11																	76256898		2200	4292	6492	75934546	SO:0001583	missense	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.3331C>T	11.37:g.76256898C>T	ENSP00000432327:p.Arg1111Cys		75934546	NM_020193	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790075	0.50102	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.5	4.57	0.56435	.	0.379291	0.30329	N	0.009866	T	0.52677	0.1749	N	0.08118	0	0.80722	D	1	D;P;P;P;P;P	0.76494	0.999;0.923;0.923;0.804;0.564;0.804	D;B;B;B;B;B	0.69654	0.965;0.17;0.17;0.165;0.109;0.165	T	0.63211	-0.6688	9	0.56958	D	0.05	-0.0182	15.6293	0.76888	0.1384:0.8616:0.0:0.0	.	1020;1112;1126;1112;1013;1111	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	C	1013;1111;793;1126;1020;1112;1112;1111	.	ENSP00000334130:R1111C	R	+	1	0	C11orf30	75934546	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.634000	0.46528	1.505000	0.48720	0.650000	0.86243	CGC		0.453	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193	
PAK1	5058	broad.mit.edu	37	11	77103486	77103486	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:77103486C>T	ENST00000356341.3	-	2	611	c.80G>A	c.(79-81)gGc>gAc	p.G27D	PAK1_ENST00000528203.1_Intron|PAK1_ENST00000278568.4_Missense_Mutation_p.G27D|PAK1_ENST00000530617.1_Missense_Mutation_p.G27D	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	27					actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G27D(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					ATCTTTGCTGCCGGCTCCAAT	0.483																																					p.G27D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G80A	11						.						114.0	106.0	108.0					11																	77103486		2200	4292	6492	76781134	SO:0001583	missense	5058	exon2			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.80G>A	11.37:g.77103486C>T	ENSP00000348696:p.Gly27Asp		76781134	NM_002576	O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267834	0.59540	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000529248;ENST00000524847;ENST00000528592;ENST00000528633	T;T;T	0.72725	-0.65;-0.67;-0.68	6.17	6.17	0.99709	.	0.144169	0.64402	D	0.000006	T	0.71074	0.3297	M	0.61703	1.905	0.80722	D	1	B;B;B	0.27416	0.003;0.178;0.01	B;B;B	0.34536	0.02;0.185;0.02	T	0.67715	-0.5599	10	0.46703	T	0.11	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	27;27;27	B3KNX7;Q13153;Q13153-2	.;PAK1_HUMAN;.	D	27	ENSP00000348696:G27D;ENSP00000433423:G27D;ENSP00000278568:G27D	ENSP00000278568:G27D	G	-	2	0	PAK1	76781134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.752000	0.47516	2.941000	0.99782	0.655000	0.94253	GGC		0.483	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576	
KCTD14	65987	broad.mit.edu	37	11	77727683	77727683	+	Missense_Mutation	SNP	C	C	T	rs374366969		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:77727683C>T	ENST00000353172.5	-	2	768	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCTD14_ENST00000533144.1_Missense_Mutation_p.E212K|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	242					protein homooligomerization (GO:0051260)			p.E242K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAATGGAATTCGTTTCTTTTG	0.448																																					p.E242K	NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G724A	11						.	C	,,,LYS/GLU	1,4399	2.1+/-5.4	0,1,2199	136.0	121.0	126.0		,,,724	1.6	0.0	11		126	0,8584		0,0,4292	no	utr-3,utr-3,utr-3,missense	KCTD14,NDUFC2-KCTD14	NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_023930.3	,,,56	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	,,,benign	,,,242/256	77727683	1,12983	2200	4292	6492	77405331	SO:0001583	missense	65987	exon2			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.724G>A	11.37:g.77727683C>T	ENSP00000316482:p.Glu242Lys		77405331	NM_023930	B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	CCDS8255.2	.	.	.	.	.	.	.	.	.	.	C	0.190	-1.053945	0.01965	2.27E-4	0.0	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.62788	0.0;0.01	4.1	1.61	0.23674	.	0.449872	0.15513	N	0.258444	T	0.24044	0.0582	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31916	-0.9926	10	0.02654	T	1	.	7.5842	0.27982	0.0:0.1807:0.0:0.8193	.	242	Q9BQ13	KCD14_HUMAN	K	242;212	ENSP00000316482:E242K;ENSP00000431155:E212K	ENSP00000316482:E242K	E	-	1	0	KCTD14	77405331	0.017000	0.18338	0.000000	0.03702	0.003000	0.03518	0.799000	0.27028	0.178000	0.19917	-0.300000	0.09419	GAA		0.448	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930	
ALG8	79053	broad.mit.edu	37	11	77825000	77825000	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:77825000G>A	ENST00000299626.5	-	7	780	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	ALG8_ENST00000376156.3_Missense_Mutation_p.R237C|ALG8_ENST00000532552.2_Intron	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	237					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.R237C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GAAATAACACGAACAAAGCTG	0.368																																					p.R237C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C709T	11						.						111.0	90.0	97.0					11																	77825000		2198	4291	6489	77502648	SO:0001583	missense	79053	exon7			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.709C>T	11.37:g.77825000G>A	ENSP00000299626:p.Arg237Cys		77502648	NM_001007027	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363747	0.61513	.	.	ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000532440;ENST00000525755;ENST00000530454;ENST00000525870	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.93743	0.8000	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.969;0.977;0.982	D	0.94761	0.7936	10	0.87932	D	0	-12.3265	18.5518	0.91068	0.0:0.0:1.0:0.0	.	237;237;237	B3KQL8;Q9BVK2;A6NDW6	.;ALG8_HUMAN;.	C	237;237;55;186;238;149	ENSP00000299626:R237C;ENSP00000365326:R237C;ENSP00000433429:R55C;ENSP00000435467:R186C;ENSP00000434660:R238C;ENSP00000435417:R149C	ENSP00000299626:R237C	R	-	1	0	ALG8	77502648	1.000000	0.71417	0.529000	0.27951	0.271000	0.26615	7.927000	0.87577	2.678000	0.91216	0.655000	0.94253	CGT		0.368	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	
NARS2	79731	broad.mit.edu	37	11	78270602	78270602	+	Nonsense_Mutation	SNP	C	C	A	rs146264111		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:78270602C>A	ENST00000281038.5	-	5	952	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	NARS2_ENST00000528850.1_5'UTR|RP11-843A23.1_ENST00000526976.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	193					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.E193*(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)	TGAAAAAGTTCTCCAGCTCCC	0.348																																					p.E193X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G577T	11						.	C	stop/GLU	1,4399	2.1+/-5.4	0,1,2199	146.0	145.0	145.0		577	5.6	1.0	11	dbSNP_134	145	0,8584		0,0,4292	no	stop-gained	NARS2	NM_024678.5		0,1,6491	AA,AC,CC		0.0,0.0227,0.0077		193/478	78270602	1,12983	2200	4292	6492	77948250	SO:0001587	stop_gained	79731	exon5			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.577G>T	11.37:g.78270602C>A	ENSP00000281038:p.Glu193*		77948250	NM_024678	G3V178	Nonsense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508576	0.96386	2.27E-4	0.0	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.57	5.57	0.84162	.	0.051417	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.0394	18.3183	0.90229	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000281038:E193X	E	-	1	0	NARS2	77948250	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.041000	0.76558	2.606000	0.88127	0.563000	0.77884	GAA		0.348	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
NARS2	79731	broad.mit.edu	37	11	78282470	78282470	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:78282470C>T	ENST00000281038.5	-	2	536	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	54					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.R54Q(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)	CTTCTGGGATCGGACAGAACG	0.408																																					p.R54Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	11						.						100.0	91.0	94.0					11																	78282470		2200	4291	6491	77960118	SO:0001583	missense	79731	exon2			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.161G>A	11.37:g.78282470C>T	ENSP00000281038:p.Arg54Gln		77960118	NM_024678	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187394	0.94923	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.70045	-0.45;-0.45	5.24	5.24	0.73138	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.64402	D	0.000001	D	0.86310	0.5902	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89494	0.3759	10	0.87932	D	0	-9.1113	17.9465	0.89040	0.0:1.0:0.0:0.0	.	54	Q96I59	SYNM_HUMAN	Q	54	ENSP00000281038:R54Q;ENSP00000432240:R54Q	ENSP00000281038:R54Q	R	-	2	0	NARS2	77960118	1.000000	0.71417	0.666000	0.29783	0.989000	0.77384	6.655000	0.74392	2.605000	0.88082	0.591000	0.81541	CGA		0.408	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
PCF11	51585	broad.mit.edu	37	11	82878524	82878524	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:82878524G>A	ENST00000298281.4	+	7	2521	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	690					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.R690Q(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CATCAAATTCGACAGCTATTT	0.353																																					p.R690Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2069A	11						.						54.0	49.0	51.0					11																	82878524		1859	4099	5958	82556172	SO:0001583	missense	51585	exon7			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.2069G>A	11.37:g.82878524G>A	ENSP00000298281:p.Arg690Gln		82556172	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611522	0.46631	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.49139	1.79;0.8;0.79	5.98	5.98	0.97165	.	0.000000	0.49305	D	0.000158	T	0.37839	0.1018	L	0.29908	0.895	0.40848	D	0.983722	D;P	0.58970	0.984;0.913	B;B	0.42495	0.389;0.158	T	0.15065	-1.0450	9	.	.	.	.	14.5873	0.68335	0.0694:0.0:0.9306:0.0	.	690;690	E9PQ01;O94913	.;PCF11_HUMAN	Q	690	ENSP00000298281:R690Q;ENSP00000434540:R690Q;ENSP00000431567:R690Q	.	R	+	2	0	PCF11	82556172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.540000	0.67205	2.838000	0.97847	0.591000	0.81541	CGA		0.353	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
CCDC89	220388	broad.mit.edu	37	11	85396652	85396652	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:85396652C>T	ENST00000316398.3	-	1	668	c.522G>A	c.(520-522)gcG>gcA	p.A174A	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	174						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A174A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTAATACTTTCGCCTCCTCAT	0.557																																					p.A174A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G522A	11						.						112.0	103.0	106.0					11																	85396652		2203	4299	6502	85074300	SO:0001819	synonymous_variant	220388	exon1			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.522G>A	11.37:g.85396652C>T			85074300	NM_152723		Silent	SNP	ENST00000316398.3	37	CCDS8270.1																																																																																				0.557	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723	
SYTL2	54843	broad.mit.edu	37	11	85435764	85435764	+	Intron	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:85435764T>G	ENST00000528231.1	-	7	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.E1103A|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E579A|SYTL2_ENST00000525423.1_Missense_Mutation_p.E579A	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.E579A(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)		TTCTTTTAATTCCTCAGGATG	0.413																																					p.E579A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1736C	11						.						64.0	64.0	64.0					11																	85435764		2203	4299	6502	85113412	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+3174A>C	11.37:g.85435764T>G			85113412	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	14.67	2.606048	0.46527	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.33438	1.43;1.41;1.42	6.11	3.82	0.43975	.	0.594469	0.16116	N	0.228863	T	0.28001	0.0690	L	0.32530	0.975	0.26695	N	0.97129	P;P;P	0.45531	0.86;0.86;0.86	P;P;P	0.47075	0.536;0.536;0.536	T	0.05194	-1.0900	9	.	.	.	-13.5738	8.79	0.34845	0.0:0.1474:0.0:0.8526	.	579;579;579	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	A	1103;579;579	ENSP00000352065:E1103A;ENSP00000346576:E579A;ENSP00000432694:E579A	.	E	-	2	0	SYTL2	85113412	0.952000	0.32445	0.661000	0.29709	0.957000	0.61999	3.597000	0.54031	1.129000	0.42072	0.533000	0.62120	GAA		0.413	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
SYTL2	54843	broad.mit.edu	37	11	85435830	85435830	+	Intron	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:85435830G>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.S1081Y|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S557Y|SYTL2_ENST00000525423.1_Missense_Mutation_p.S557Y	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.S557Y(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)		CTTTGATGGAGAAAGATTCCC	0.433																																					p.S557Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1670A	11						.						90.0	89.0	89.0					11																	85435830		2203	4299	6502	85113478	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+3108C>A	11.37:g.85435830G>T			85113478	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	.	.	.	.	.	.	.	.	.	.	G	1.366	-0.587432	0.03799	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.36878	1.23;1.24;1.25	5.58	0.173	0.15036	.	0.904655	0.09728	N	0.763540	T	0.18800	0.0451	N	0.20986	0.625	0.09310	N	1	B;B;B	0.20671	0.047;0.047;0.047	B;B;B	0.19946	0.027;0.027;0.027	T	0.27536	-1.0071	9	.	.	.	-0.2253	1.1281	0.01740	0.1777:0.1413:0.3512:0.3299	.	557;557;557	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	Y	1081;557;557	ENSP00000352065:S1081Y;ENSP00000346576:S557Y;ENSP00000432694:S557Y	.	S	-	2	0	SYTL2	85113478	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.041000	0.12084	-0.113000	0.11958	-0.176000	0.13171	TCT		0.433	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
PICALM	8301	broad.mit.edu	37	11	85723335	85723335	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:85723335A>C	ENST00000393346.3	-	6	795	c.647T>G	c.(646-648)aTt>aGt	p.I216S	PICALM_ENST00000526033.1_Missense_Mutation_p.I216S|PICALM_ENST00000356360.5_Missense_Mutation_p.I216S|PICALM_ENST00000528398.1_Missense_Mutation_p.I165S|PICALM_ENST00000532317.1_Missense_Mutation_p.I216S			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	216					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.I216S(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CAACAAATTAATAATTCCTTC	0.338			T	"""MLLT10, MLL"""	"""TALL, AML, """																																p.I216S			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T647G	11						.						100.0	95.0	96.0					11																	85723335		2203	4299	6502	85400983	SO:0001583	missense	8301	exon6			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.647T>G	11.37:g.85723335A>C	ENSP00000377015:p.Ile216Ser		85400983	NM_007166	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779147	0.90195	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.13	5.13	0.70059	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	M	0.92459	3.31	0.80722	D	1	B;D;P;B	0.89917	0.392;1.0;0.826;0.44	B;D;P;P	0.85130	0.388;0.997;0.906;0.82	T	0.77747	-0.2472	9	.	.	.	-12.4393	15.2313	0.73390	1.0:0.0:0.0:0.0	.	165;216;216;216	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	S	216;216;216;216;165;216;182	ENSP00000436958:I216S;ENSP00000433846:I216S;ENSP00000377015:I216S;ENSP00000434884:I165S;ENSP00000348718:I216S;ENSP00000433303:I182S	.	I	-	2	0	PICALM	85400983	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.212000	0.95126	2.051000	0.60960	0.383000	0.25322	ATT		0.338	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	
CCDC81	60494	broad.mit.edu	37	11	86131044	86131044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:86131044G>A	ENST00000445632.2	+	14	2038	c.1766G>A	c.(1765-1767)aGg>aAg	p.R589K	CCDC81_ENST00000354755.1_Missense_Mutation_p.R499K|CCDC81_ENST00000528728.1_Missense_Mutation_p.R324K|CCDC81_ENST00000278487.3_Missense_Mutation_p.R324K	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	589								p.R499K(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GACTGGGAAAGGAGTGCTGCG	0.527																																					p.R499K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1496A	11						.						125.0	105.0	112.0					11																	86131044		2202	4299	6501	85808692	SO:0001583	missense	60494	exon13			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1766G>A	11.37:g.86131044G>A	ENSP00000415528:p.Arg589Lys		85808692	NM_021827	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	6.371	0.436568	0.12104	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.69	0.591	0.17465	.	0.332135	0.28114	N	0.016559	T	0.19087	0.0458	L	0.37897	1.145	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.18587	-1.0332	9	.	.	.	-3.9805	7.3648	0.26766	0.6083:0.0:0.3917:0.0	.	324;589;499	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	K	499;324;589;324	ENSP00000346800:R499K;ENSP00000278487:R324K;ENSP00000415528:R589K;ENSP00000437165:R324K	.	R	+	2	0	CCDC81	85808692	0.846000	0.29590	0.001000	0.08648	0.988000	0.76386	0.430000	0.21428	0.194000	0.20326	0.555000	0.69702	AGG		0.527	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
CTSC	1075	broad.mit.edu	37	11	88033707	88033707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:88033707G>A	ENST00000227266.5	-	5	862	c.748C>T	c.(748-750)Cga>Tga	p.R250*		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	250					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.R250*(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)				CCTTGGTTTCGAACAGGACTG	0.373																																					p.R250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C748T	11	GRCh37	CM002938	CTSC	M		.						93.0	92.0	92.0					11																	88033707		2201	4299	6500	87673355	SO:0001587	stop_gained	1075	exon5			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.748C>T	11.37:g.88033707G>A	ENSP00000227266:p.Arg250*		87673355	NM_001814	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Nonsense_Mutation	SNP	ENST00000227266.5	37	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280722	0.95489	.	.	ENSG00000109861	ENST00000393302;ENST00000227266	.	.	.	5.3	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1512	0.65387	0.0:0.0:0.4893:0.5107	.	.	.	.	X	233;250	.	.	R	-	1	2	CTSC	87673355	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.185000	0.42584	0.604000	0.29930	-0.175000	0.13238	CGA		0.373	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814	
GRM5	2915	broad.mit.edu	37	11	88300511	88300511	+	Silent	SNP	C	C	T	rs199916630		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:88300511C>T	ENST00000305447.4	-	7	2489	c.2340G>A	c.(2338-2340)acG>acA	p.T780T	GRM5_ENST00000305432.5_Silent_p.T780T|GRM5_ENST00000393297.1_Silent_p.T780T|GRM5_ENST00000455756.2_Silent_p.T780T|GRM5_ENST00000418177.2_Silent_p.T780T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	780					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.T780T(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TAATGCAGGTCGTGTACATTG	0.458																																					p.T780T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2340A	11						.						179.0	161.0	167.0					11																	88300511		2201	4299	6500	87940159	SO:0001819	synonymous_variant	2915	exon8			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2340G>A	11.37:g.88300511C>T			87940159	NM_000842	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																				0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
TYR	7299	broad.mit.edu	37	11	88924375	88924375	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:88924375C>T	ENST00000263321.5	+	2	1327	c.825C>T	c.(823-825)gtC>gtT	p.V275V	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	275			V -> F (in OCA1B; dbSNP:rs104894314). {ECO:0000269|PubMed:11295837, ECO:0000269|PubMed:1903591}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V275V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TACAGATTGTCTGTAGCCGAT	0.443																																					p.V275V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C825T	11						.						109.0	99.0	103.0					11																	88924375		2201	4299	6500	88564023	SO:0001819	synonymous_variant	7299	exon2			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.825C>T	11.37:g.88924375C>T			88564023	NM_000372	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	CCDS8284.1																																																																																				0.443	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372	
FOLH1B	219595	broad.mit.edu	37	11	89429815	89429815	+	RNA	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:89429815G>T	ENST00000532352.1	+	0	1859							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.R354I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATATTGTTAAGAATGATGAAT	0.303																																					p.R354I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1061T	11						.						99.0	93.0	95.0					11																	89429815		2201	4298	6499	89069463			219595	exon13			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.89429815G>T			89069463	NM_153696		Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.303	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
TRIM49	57093	broad.mit.edu	37	11	89537614	89537614	+	Silent	SNP	G	G	T	rs201477124		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:89537614G>T	ENST00000329758.1	-	3	352	c.24C>A	c.(22-24)gtC>gtA	p.V8V	TRIM49_ENST00000532501.2_Silent_p.V8V	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	8						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCCTGAAAGACCTGTAAGA	0.458																																					p.V8V												.	.	0			c.C24A	11						.						11.0	12.0	12.0					11																	89537614		2087	4194	6281	89177262	SO:0001819	synonymous_variant	57093	exon3			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.24C>A	11.37:g.89537614G>T			89177262	NM_020358	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358	
NAALAD2	10003	broad.mit.edu	37	11	89896175	89896175	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:89896175G>A	ENST00000534061.1	+	9	1278	c.1048G>A	c.(1048-1050)Gga>Aga	p.G350R	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G317R	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	350	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.G350R(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)				CAATGTAGTTGGAACTATCAG	0.269																																					p.G350R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048A	11						.						71.0	84.0	80.0					11																	89896175		2199	4280	6479	89535823	SO:0001583	missense	10003	exon9			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.1048G>A	11.37:g.89896175G>A	ENSP00000432481:p.Gly350Arg		89535823	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238416	0.79800	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.52983	0.64;0.64	5.37	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.79759	0.4501	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87236	0.2263	9	.	.	.	-14.2214	14.0921	0.64998	0.0734:0.0:0.9266:0.0	.	350	Q9Y3Q0	NALD2_HUMAN	R	350;317	ENSP00000432481:G350R;ENSP00000320083:G317R	.	G	+	1	0	NAALAD2	89535823	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.758000	0.74929	1.400000	0.46741	0.591000	0.81541	GGA		0.269	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
NAALAD2	10003	broad.mit.edu	37	11	89909174	89909174	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:89909174G>A	ENST00000534061.1	+	15	1767	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.A480T	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	513	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.A513T(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)				TGACTTTGAAGCTTATTTTCA	0.358																																					p.A513T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1537A	11						.						109.0	99.0	103.0					11																	89909174		2201	4299	6500	89548822	SO:0001583	missense	10003	exon15			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.1537G>A	11.37:g.89909174G>A	ENSP00000432481:p.Ala513Thr		89548822	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964304	0.92791	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.41065	1.01;1.01	5.56	5.56	0.83823	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.75884	2.315	0.80722	D	1	D	0.53312	0.959	P	0.52031	0.688	T	0.58929	-0.7549	9	.	.	.	-15.6956	19.5794	0.95459	0.0:0.0:1.0:0.0	.	513	Q9Y3Q0	NALD2_HUMAN	T	513;480	ENSP00000432481:A513T;ENSP00000320083:A480T	.	A	+	1	0	NAALAD2	89548822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.630000	0.89119	0.650000	0.86243	GCT		0.358	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
FAT3	120114	broad.mit.edu	37	11	92085950	92085950	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:92085950G>T	ENST00000298047.6	+	1	689	c.672G>T	c.(670-672)aaG>aaT	p.K224N	FAT3_ENST00000525166.1_Missense_Mutation_p.K74N|FAT3_ENST00000409404.2_Missense_Mutation_p.K224N|FAT3_ENST00000541502.1_Missense_Mutation_p.K224N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	224	Cadherin 2. {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.K224N(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)				ATGATGAAAAGAATAGGTATG	0.388										TCGA Ovarian(4;0.039)																											p.K224N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G672T	11						.						119.0	113.0	115.0					11																	92085950		1855	4102	5957	91725598	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.672G>T	11.37:g.92085950G>T	ENSP00000298047:p.Lys224Asn		91725598	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	13.01	2.109088	0.37242	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.15	4.23	0.50019	.	.	.	.	.	T	0.37598	0.1009	N	0.25890	0.77	0.27808	N	0.942236	P	0.44627	0.839	P	0.46543	0.52	T	0.15492	-1.0435	9	0.37606	T	0.19	.	5.4549	0.16584	0.1846:0.1671:0.6484:0.0	.	224	Q8TDW7-3	.	N	224;224;224;74	ENSP00000298047:K224N;ENSP00000387040:K224N;ENSP00000443786:K224N;ENSP00000432586:K74N	ENSP00000298047:K224N	K	+	3	2	FAT3	91725598	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.459000	0.35234	1.281000	0.44480	0.655000	0.94253	AAG		0.388	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92531138	92531138	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:92531138T>G	ENST00000298047.6	+	9	4976	c.4959T>G	c.(4957-4959)gcT>gcG	p.A1653A	FAT3_ENST00000525166.1_Silent_p.A1503A|FAT3_ENST00000409404.2_Silent_p.A1653A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1653	Cadherin 15. {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.A1653A(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)				CAATGTCTGCTACTGCAATTG	0.448										TCGA Ovarian(4;0.039)																											p.A1653A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T4959G	11						.						101.0	100.0	101.0					11																	92531138		1996	4172	6168	92170786	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.4959T>G	11.37:g.92531138T>G			92170786	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
SLC36A4	120103	broad.mit.edu	37	11	92887380	92887380	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:92887380G>T	ENST00000326402.4	-	10	1231	c.1101C>A	c.(1099-1101)ttC>ttA	p.F367L	SLC36A4_ENST00000529184.1_Missense_Mutation_p.F232L	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	367					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.F367L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGGAACATAGAACTGAATTG	0.303																																					p.F367L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1101A	11						.						72.0	78.0	76.0					11																	92887380		2201	4288	6489	92527028	SO:0001583	missense	120103	exon10			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1101C>A	11.37:g.92887380G>T	ENSP00000317382:p.Phe367Leu		92527028	NM_152313	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545166	0.86022	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02050	4.48;4.48;4.48	5.8	4.89	0.63831	.	0.056274	0.64402	D	0.000001	T	0.09423	0.0232	L	0.53617	1.68	0.51233	D	0.999912	D	0.76494	0.999	D	0.71414	0.973	T	0.02104	-1.1213	10	0.66056	D	0.02	-10.4984	14.4218	0.67187	0.07:0.0:0.93:0.0	.	367	Q6YBV0	S36A4_HUMAN	L	367;232;261	ENSP00000317382:F367L;ENSP00000436570:F232L;ENSP00000432061:F261L	ENSP00000317382:F367L	F	-	3	2	SLC36A4	92527028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	1.461000	0.47929	0.655000	0.94253	TTC		0.303	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		
HEPHL1	341208	broad.mit.edu	37	11	93845053	93845053	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:93845053C>T	ENST00000315765.9	+	20	3481	c.3473C>T	c.(3472-3474)gCt>gTt	p.A1158V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1158					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.A1162V(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)				CCCACGGATGCTCTGTGAACC	0.542																																					p.A1158V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3473T	11						.						160.0	155.0	156.0					11																	93845053		2032	4194	6226	93484701	SO:0001583	missense	341208	exon20			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.3473C>T	11.37:g.93845053C>T	ENSP00000313699:p.Ala1158Val		93484701	NM_001098672	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741044	0.69304	.	.	ENSG00000181333	ENST00000315765	D	0.99304	-5.72	5.34	5.34	0.76211	.	.	.	.	.	D	0.96889	0.8984	N	0.24115	0.695	0.28868	N	0.895139	B	0.34103	0.437	B	0.30401	0.115	D	0.94895	0.8051	9	0.38643	T	0.18	-4.6995	12.6838	0.56936	0.1649:0.8351:0.0:0.0	.	1158	Q6MZM0	HPHL1_HUMAN	V	1158	ENSP00000313699:A1158V	ENSP00000313699:A1158V	A	+	2	0	HEPHL1	93484701	0.774000	0.28592	0.813000	0.32504	0.609000	0.37215	1.056000	0.30480	2.509000	0.84616	0.561000	0.74099	GCT		0.542	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
AMOTL1	154810	broad.mit.edu	37	11	94533343	94533343	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:94533343G>A	ENST00000433060.2	+	3	1128	c.987G>A	c.(985-987)gaG>gaA	p.E329E	AMOTL1_ENST00000317829.8_Silent_p.E279E|AMOTL1_ENST00000317837.9_Silent_p.E329E	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	329					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.E329E(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)				AGACCCAGGAGCACGGACTTT	0.592																																					p.E329E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G987A	11						.						132.0	132.0	132.0					11																	94533343		1990	4178	6168	94172991	SO:0001819	synonymous_variant	154810	exon3			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.987G>A	11.37:g.94533343G>A			94172991	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	CCDS44712.1																																																																																				0.592	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
ENDOD1	23052	broad.mit.edu	37	11	94862081	94862081	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:94862081A>C	ENST00000278505.4	+	2	959	c.841A>C	c.(841-843)Aaa>Caa	p.K281Q		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	281						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K281Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				GAAAATGAAAAAAATCCTGGA	0.413																																					p.K281Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A841C	11						.						72.0	70.0	71.0					11																	94862081		1846	4088	5934	94501729	SO:0001583	missense	23052	exon2			BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.841A>C	11.37:g.94862081A>C	ENSP00000278505:p.Lys281Gln		94501729	NM_015036	A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189889	0.57909	.	.	ENSG00000149218	ENST00000278505	T	0.70869	-0.52	5.9	5.9	0.94986	.	0.352416	0.27700	N	0.018213	T	0.78978	0.4369	M	0.70595	2.14	0.09310	N	0.999999	D	0.69078	0.997	D	0.65874	0.939	T	0.73097	-0.4090	10	0.51188	T	0.08	-17.1986	5.9607	0.19299	0.7464:0.168:0.0855:0.0	.	281	O94919	ENDD1_HUMAN	Q	281	ENSP00000278505:K281Q	ENSP00000278505:K281Q	K	+	1	0	ENDOD1	94501729	0.967000	0.33354	0.942000	0.38095	0.993000	0.82548	2.234000	0.43035	2.259000	0.74868	0.374000	0.22700	AAA		0.413	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036	
JRKL	8690	broad.mit.edu	37	11	96125218	96125218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:96125218G>T	ENST00000332349.4	+	2	1652	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Nonsense_Mutation_p.E469*	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	469					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E469*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGAGGAAATAGAACTAATTCC	0.403																																					p.E469X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1405T	11						.						65.0	56.0	59.0					11																	96125218		2201	4298	6499	95764866	SO:0001587	stop_gained	8690	exon1			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1405G>T	11.37:g.96125218G>T	ENSP00000333350:p.Glu469*		95764866	NM_003772	A8K3G4|B2RAJ3|Q32MC2	Nonsense_Mutation	SNP	ENST00000332349.4	37	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	G	43	10.097060	0.99336	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	.	.	.	4.79	4.79	0.61399	.	0.000000	0.41823	D	0.000817	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-18.3566	13.6908	0.62544	0.0:0.0:1.0:0.0	.	.	.	.	X	469	.	ENSP00000333350:E469X	E	+	1	0	JRKL	95764866	1.000000	0.71417	0.977000	0.42913	0.928000	0.56348	4.708000	0.61859	2.360000	0.80028	0.462000	0.41574	GAA		0.403	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772	
VPS26B	112936	broad.mit.edu	37	11	134095130	134095130	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr11:134095130C>T	ENST00000281187.5	+	1	592	c.114C>T	c.(112-114)ttC>ttT	p.F38F	VPS26B_ENST00000525095.2_Silent_p.F38F|NCAPD3_ENST00000526422.1_5'Flank|NCAPD3_ENST00000534548.2_5'Flank	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	38					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.F38F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGAAATATTTCCTCTTCTACG	0.577																																					p.F38F	Colon(171;1263 1952 15904 45703 47982)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C114T	11						.						103.0	106.0	105.0					11																	134095130		2201	4297	6498	133600340	SO:0001819	synonymous_variant	112936	exon1				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.114C>T	11.37:g.134095130C>T			133600340	NM_052875	Q96A55	Silent	SNP	ENST00000281187.5	37	CCDS8495.1																																																																																				0.577	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875	
SLC5A8	160728	broad.mit.edu	37	12	101560371	101560371	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:101560371T>C	ENST00000536262.2	-	12	1985	c.1427A>G	c.(1426-1428)gAt>gGt	p.D476G		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.D476G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCTTGGATATCAAGGTGCAA	0.398																																					p.D476G	GBM(60;420 1056 13605 22380 47675)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1427G	12						.						124.0	111.0	116.0					12																	101560371		2203	4300	6503	100084502	SO:0001583	missense	160728	exon12			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1427A>G	12.37:g.101560371T>C	ENSP00000445340:p.Asp476Gly		100084502	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	6.671	0.492332	0.12702	.	.	ENSG00000256870	ENST00000536262	D	0.85702	-2.02	5.39	1.49	0.22878	.	0.468479	0.22773	N	0.055819	T	0.73830	0.3637	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.65994	-0.6033	10	0.72032	D	0.01	.	7.0959	0.25309	0.1434:0.0:0.4951:0.3615	.	476	Q8N695	SC5A8_HUMAN	G	476	ENSP00000445340:D476G	ENSP00000445340:D476G	D	-	2	0	SLC5A8	100084502	0.010000	0.17322	0.498000	0.27564	0.012000	0.07955	0.658000	0.24979	0.854000	0.35336	0.533000	0.62120	GAT		0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
UTP20	27340	broad.mit.edu	37	12	101684003	101684003	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:101684003T>G	ENST00000261637.4	+	7	860	c.686T>G	c.(685-687)tTt>tGt	p.F229C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	229					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.F229C(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						CAGTTGCTCTTTGAAATGTGC	0.368																																					p.F229C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T686G	12						.						86.0	87.0	87.0					12																	101684003		2203	4300	6503	100208134	SO:0001583	missense	27340	exon7			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.686T>G	12.37:g.101684003T>G	ENSP00000261637:p.Phe229Cys		100208134	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567344	0.86439	.	.	ENSG00000120800	ENST00000261637	T	0.64260	-0.09	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78919	-0.2014	10	0.48119	T	0.1	-23.0539	16.1611	0.81712	0.0:0.0:0.0:1.0	.	229	O75691	UTP20_HUMAN	C	229	ENSP00000261637:F229C	ENSP00000261637:F229C	F	+	2	0	UTP20	100208134	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.865000	0.87049	2.213000	0.71641	0.477000	0.44152	TTT		0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101705568	101705568	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:101705568C>T	ENST00000261637.4	+	20	2477	c.2303C>T	c.(2302-2304)aCg>aTg	p.T768M		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	768					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.T768M(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						AAAGCAGCTACGCATGCTGGT	0.343																																					p.T768M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2303T	12						.						73.0	74.0	74.0					12																	101705568		2203	4300	6503	100229699	SO:0001583	missense	27340	exon20			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.2303C>T	12.37:g.101705568C>T	ENSP00000261637:p.Thr768Met		100229699	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162457	0.38217	.	.	ENSG00000120800	ENST00000261637	T	0.18810	2.19	5.69	4.78	0.61160	Armadillo-type fold (1);	0.597697	0.19244	N	0.119098	T	0.18341	0.0440	L	0.44542	1.39	0.09310	N	1	P	0.44816	0.844	B	0.38616	0.277	T	0.09400	-1.0676	10	0.48119	T	0.1	-1.6425	10.8669	0.46860	0.0:0.7969:0.1291:0.0739	.	768	O75691	UTP20_HUMAN	M	768	ENSP00000261637:T768M	ENSP00000261637:T768M	T	+	2	0	UTP20	100229699	0.000000	0.05858	0.771000	0.31576	0.973000	0.67179	0.887000	0.28254	1.343000	0.45638	0.561000	0.74099	ACG		0.343	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
CLEC12B	387837	broad.mit.edu	37	12	10165460	10165460	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:10165460G>A	ENST00000338896.5	+	2	296	c.168G>A	c.(166-168)ggG>ggA	p.G56G	CLEC1B_ENST00000428126.2_Intron|CLEC12B_ENST00000396502.1_Silent_p.G56G|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G56G(1)		central_nervous_system(2)|large_intestine(2)|lung(5)	9						TGCTGATTGGGCTGGTGACAT	0.453																																					p.G56G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G168A	12						.						238.0	194.0	209.0					12																	10165460		2203	4300	6503	10056727	SO:0001819	synonymous_variant	387837	exon2			AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.168G>A	12.37:g.10165460G>A			10056727	NM_001129998	Q6UWF2|Q6ZRG0	Silent	SNP	ENST00000338896.5	37	CCDS44830.1																																																																																				0.453	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852	
CLEC12B	387837	broad.mit.edu	37	12	10168294	10168294	+	Missense_Mutation	SNP	C	C	A	rs140525209	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:10168294C>A	ENST00000338896.5	+	5	776	c.648C>A	c.(646-648)ttC>ttA	p.F216L	CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Missense_Mutation_p.F216L|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	216	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.F216L(1)		central_nervous_system(2)|large_intestine(2)|lung(5)	9						GAAGTTGGTTCTGGGAAGATG	0.418																																					p.F216L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C648A	12						.						152.0	142.0	145.0					12																	10168294		2203	4300	6503	10059561	SO:0001583	missense	387837	exon5			AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.648C>A	12.37:g.10168294C>A	ENSP00000344563:p.Phe216Leu		10059561	NM_001129998	Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	C	4.749	0.139352	0.09083	.	.	ENSG00000172322;ENSG00000256660;ENSG00000256660	ENST00000396506;ENST00000396502;ENST00000338896	T;T	0.15834	2.39;2.39	4.7	-9.39	0.00619	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.993065	0.08163	N	0.988239	T	0.02047	0.0064	N	0.00202	-1.86	0.18873	N	0.999985	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13602	-1.0503	10	0.02654	T	1	.	4.0308	0.09708	0.0983:0.1725:0.4019:0.3274	.	216;216	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	L	75;216;216	ENSP00000379759:F216L;ENSP00000344563:F216L	ENSP00000379763:F75L	F	+	3	2	CLEC12A;CLEC12B	10059561	0.000000	0.05858	0.081000	0.20488	0.620000	0.37586	-3.485000	0.00455	-3.790000	0.00106	-0.500000	0.04577	TTC		0.418	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852	
MYBPC1	4604	broad.mit.edu	37	12	102038456	102038456	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:102038456C>A	ENST00000550270.1	+	10	772	c.772C>A	c.(772-774)Ctt>Att	p.L258I	MYBPC1_ENST00000541119.1_Missense_Mutation_p.L246I|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L283I|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L258I|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L245I|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L244I|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L258I|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L258I|MYBPC1_ENST00000549145.1_Missense_Mutation_p.L271I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L159I|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L239I|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L258I|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L258I|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L283I|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L232I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	258	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L283I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGCAAAAATTCTTGATCCTGC	0.353																																					p.L283I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847A	12						.						69.0	67.0	68.0					12																	102038456		2203	4300	6503	100562587	SO:0001583	missense	4604	exon12				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.772C>A	12.37:g.102038456C>A	ENSP00000449702:p.Leu258Ile		100562587	NM_002465	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067256	0.76301	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62498	0.06;0.04;0.03;0.04;0.05;0.02;0.05;0.04;0.05;0.03;0.13;0.03;0.04;0.11;0.04	5.7	5.7	0.88788	Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000292	T	0.80994	0.4731	M	0.78456	2.415	0.52501	D	0.999959	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.997;1.0;0.998;0.999;0.999;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.991;0.997;0.997;0.999;0.995;0.998;0.994;0.995;0.999	T	0.82456	-0.0448	10	0.87932	D	0	.	19.4511	0.94867	0.0:1.0:0.0:0.0	.	239;246;258;258;245;232;258;258;283;283;271	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	I	232;258;258;258;245;244;283;271;258;283;258;239;246;283;159;258	ENSP00000448175:L232I;ENSP00000400908:L258I;ENSP00000388989:L258I;ENSP00000353822:L258I;ENSP00000376665:L245I;ENSP00000447362:L244I;ENSP00000354845:L283I;ENSP00000447660:L271I;ENSP00000447900:L258I;ENSP00000440034:L258I;ENSP00000446128:L239I;ENSP00000442847:L246I;ENSP00000354849:L283I;ENSP00000447116:L159I;ENSP00000449702:L258I	ENSP00000353822:L258I	L	+	1	0	MYBPC1	100562587	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.740000	0.55082	2.694000	0.91930	0.655000	0.94253	CTT		0.353	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
SYCP3	50511	broad.mit.edu	37	12	102128772	102128772	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:102128772T>C	ENST00000392927.3	-	5	417	c.286A>G	c.(286-288)Acc>Gcc	p.T96A	SYCP3_ENST00000266743.2_Missense_Mutation_p.T96A|SYCP3_ENST00000392924.1_Missense_Mutation_p.T96A	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	96					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T96A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GAAGCCTTGGTATACATTTCT	0.303																																					p.T96A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A286G	12						.						99.0	99.0	99.0					12																	102128772		2201	4300	6501	100652903	SO:0001583	missense	50511	exon5			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.286A>G	12.37:g.102128772T>C	ENSP00000376658:p.Thr96Ala		100652903	NM_001177948		Missense_Mutation	SNP	ENST00000392927.3	37	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.031957	0.54790	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.54	1.76	0.24704	.	0.184208	0.46145	D	0.000320	T	0.46190	0.1380	L	0.45352	1.415	0.42971	D	0.994436	P	0.49307	0.922	P	0.49561	0.615	T	0.28106	-1.0054	9	0.30854	T	0.27	-16.5335	6.1017	0.20051	0.2526:0.0693:0.0:0.6781	.	96	Q8IZU3	SYCP3_HUMAN	A	96	.	ENSP00000266743:T96A	T	-	1	0	SYCP3	100652903	1.000000	0.71417	0.481000	0.27354	0.867000	0.49689	4.167000	0.58209	0.329000	0.23460	0.260000	0.18958	ACC		0.303	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694	
PMCH	5367	broad.mit.edu	37	12	102591443	102591443	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:102591443C>T	ENST00000329406.4	-	1	180	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	36					cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)		p.D36N(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						AATACCATGTCATCATCTAAA	0.318																																					p.D36N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	12						.						74.0	72.0	73.0					12																	102591443		2201	4300	6501	101115573	SO:0001583	missense	5367	exon1			M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.106G>A	12.37:g.102591443C>T	ENSP00000332225:p.Asp36Asn		101115573	NM_002674	Q16044|Q8WVG0	Missense_Mutation	SNP	ENST00000329406.4	37	CCDS31885.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056594	0.55325	.	.	ENSG00000183395	ENST00000329406	.	.	.	5.97	5.97	0.96955	.	0.179192	0.47093	D	0.000246	T	0.53850	0.1822	L	0.32530	0.975	0.39578	D	0.969398	B	0.22276	0.067	B	0.20577	0.03	T	0.53774	-0.8391	9	0.72032	D	0.01	.	15.5057	0.75739	0.0:0.9325:0.0:0.0675	.	36	P20382	MCH_HUMAN	N	36	.	ENSP00000332225:D36N	D	-	1	0	PMCH	101115573	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.779000	0.55379	2.836000	0.97738	0.655000	0.94253	GAC		0.318	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409337.1	NM_002674	
PAH	5053	broad.mit.edu	37	12	103306673	103306673	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:103306673T>C	ENST00000553106.1	-	2	536	c.64A>G	c.(64-66)Aca>Gca	p.T22A	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.T17A	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	22					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.T22A(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ATATAGCTTGTTTCCTACAGG	0.368																																					p.T22A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A64G	12						.						202.0	178.0	186.0					12																	103306673		2203	4300	6503	101830803	SO:0001583	missense	5053	exon2			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.64A>G	12.37:g.103306673T>C	ENSP00000448059:p.Thr22Ala		101830803	NM_000277	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828657	0.32329	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99418	-5.69;-5.87;-4.53;-4.99	5.36	5.36	0.76844	.	0.189621	0.47093	D	0.000253	D	0.96213	0.8765	N	0.08118	0	0.28176	N	0.928367	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	D	0.91424	0.5161	10	0.20046	T	0.44	-6.9034	8.7653	0.34700	0.1683:0.0:0.0:0.8317	.	22;22	B4DPN2;P00439	.;PH4H_HUMAN	A	22;17;22;22	ENSP00000448059:T22A;ENSP00000303500:T17A;ENSP00000447620:T22A;ENSP00000446658:T22A	ENSP00000303500:T17A	T	-	1	0	PAH	101830803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.268000	0.33062	2.013000	0.59113	0.528000	0.53228	ACA		0.368	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
STAB2	55576	broad.mit.edu	37	12	104157305	104157305	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:104157305G>A	ENST00000388887.2	+	68	7728	c.7524G>A	c.(7522-7524)aaG>aaA	p.K2508K	RP11-341G23.4_ENST00000550029.1_RNA|RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.K2508K(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCTTGGCAAGCAGCAGCCTG	0.512																																					p.K2508K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7524A	12						.						282.0	270.0	274.0					12																	104157305		2203	4300	6503	102681435	SO:0001819	synonymous_variant	55576	exon68			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7524G>A	12.37:g.104157305G>A			102681435	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
GLT8D2	83468	broad.mit.edu	37	12	104390557	104390557	+	Missense_Mutation	SNP	C	C	T	rs7133444	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:104390557C>T	ENST00000360814.4	-	8	961	c.556G>A	c.(556-558)Gat>Aat	p.D186N	GLT8D2_ENST00000546436.1_Missense_Mutation_p.D186N|GLT8D2_ENST00000548660.1_Missense_Mutation_p.D186N	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	186						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.D186N(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAGGGCAAATCGCAGTCATCT	0.502																																					p.D186N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	12						.						109.0	110.0	110.0					12																	104390557		2203	4300	6503	102914687	SO:0001583	missense	83468	exon8			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.556G>A	12.37:g.104390557C>T	ENSP00000354053:p.Asp186Asn		102914687	NM_031302	Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592722	0.86953	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.22945	1.93;1.93;1.93	5.13	3.32	0.38043	.	0.048279	0.85682	N	0.000000	T	0.41003	0.1140	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09840	-1.0656	10	0.19147	T	0.46	.	11.3561	0.49617	0.0:0.8531:0.0:0.1469	rs7133444;rs7133444	186	Q9H1C3	GL8D2_HUMAN	N	186	ENSP00000354053:D186N;ENSP00000449750:D186N;ENSP00000447450:D186N	ENSP00000354053:D186N	D	-	1	0	GLT8D2	102914687	1.000000	0.71417	0.775000	0.31657	0.972000	0.66771	4.964000	0.63701	0.575000	0.29434	0.563000	0.77884	GAT		0.502	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
HCFC2	29915	broad.mit.edu	37	12	104474578	104474578	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:104474578G>A	ENST00000229330.4	+	5	841	c.737G>A	c.(736-738)aGc>aAc	p.S246N		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	246					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.S246N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCCACGAAGCCTTCATACA	0.323																																					p.S246N	Esophageal Squamous(184;1814 2036 4771 6974 15702)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G737A	12						.						109.0	109.0	109.0					12																	104474578		2202	4300	6502	102998708	SO:0001583	missense	29915	exon5			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.737G>A	12.37:g.104474578G>A	ENSP00000229330:p.Ser246Asn		102998708	NM_013320	B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410379	0.96072	.	.	ENSG00000111727	ENST00000229330	T	0.48522	0.81	5.75	5.75	0.90469	Kelch-type beta propeller (1);	0.090412	0.85682	D	0.000000	T	0.72630	0.3484	M	0.79693	2.465	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.74054	-0.3788	10	0.59425	D	0.04	-15.9547	19.9522	0.97203	0.0:0.0:1.0:0.0	.	246	Q9Y5Z7	HCFC2_HUMAN	N	246	ENSP00000229330:S246N	ENSP00000229330:S246N	S	+	2	0	HCFC2	102998708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.209000	0.95087	2.725000	0.93324	0.655000	0.94253	AGC		0.323	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	
SLC41A2	84102	broad.mit.edu	37	12	105260256	105260256	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:105260256G>T	ENST00000258538.3	-	6	1256	c.1129C>A	c.(1129-1131)Ctc>Atc	p.L377I		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	377					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.L294I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CCTGAGTGGAGAACTGTTCTT	0.408																																					p.L377I	Esophageal Squamous(195;176 2919 4272 35572)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1129A	12						.						78.0	81.0	80.0					12																	105260256		2203	4300	6503	103784386	SO:0001583	missense	84102	exon6			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1129C>A	12.37:g.105260256G>T	ENSP00000258538:p.Leu377Ile		103784386	NM_032148	Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941321	0.73557	.	.	ENSG00000136052	ENST00000258538	T	0.32515	1.45	5.98	5.98	0.97165	.	0.058601	0.64402	N	0.000001	T	0.45216	0.1331	M	0.85859	2.78	0.80722	D	1	B	0.22541	0.071	B	0.22386	0.039	T	0.40831	-0.9542	10	0.51188	T	0.08	1.3427	20.452	0.99131	0.0:0.0:1.0:0.0	.	377	Q96JW4	S41A2_HUMAN	I	377	ENSP00000258538:L377I	ENSP00000258538:L377I	L	-	1	0	SLC41A2	103784386	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.367000	0.97148	2.838000	0.97847	0.591000	0.81541	CTC		0.408	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148	
KIAA1033	23325	broad.mit.edu	37	12	105534707	105534707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:105534707G>A	ENST00000332180.5	+	17	1678	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K		NM_015275.1	NP_056090.1			KIAA1033									p.E531K(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAATACAGCGAACAGCGTCT	0.373																																					p.E531K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1591A	12						.						127.0	119.0	121.0					12																	105534707		1849	4105	5954	104058837	SO:0001583	missense	23325	exon17			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1591G>A	12.37:g.105534707G>A	ENSP00000328062:p.Glu531Lys		104058837	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034544	0.75617	.	.	ENSG00000136051	ENST00000332180	T	0.32988	1.43	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	L	0.46157	1.445	0.80722	D	1	B;B	0.28584	0.216;0.216	B;B	0.21546	0.035;0.035	T	0.03514	-1.1029	10	0.33141	T	0.24	.	19.5261	0.95208	0.0:0.0:1.0:0.0	.	532;531	B7ZKT9;Q2M389	.;WASH7_HUMAN	K	531	ENSP00000328062:E531K	ENSP00000328062:E531K	E	+	1	0	KIAA1033	104058837	1.000000	0.71417	0.991000	0.47740	0.939000	0.58152	9.813000	0.99286	2.668000	0.90789	0.650000	0.86243	GAA		0.373	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
CKAP4	10970	broad.mit.edu	37	12	106634007	106634007	+	Missense_Mutation	SNP	C	C	T	rs376479872		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:106634007C>T	ENST00000378026.4	-	2	740	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	202						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E202K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TGCAGCACTTCGCTGATCCGG	0.517																																					p.E202K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G604A	12						.	C	LYS/GLU	0,4406		0,0,2203	81.0	82.0	82.0		604	5.8	1.0	12		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	CKAP4	NM_006825.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	202/603	106634007	1,13005	2203	4300	6503	105158137	SO:0001583	missense	10970	exon2			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.604G>A	12.37:g.106634007C>T	ENSP00000367265:p.Glu202Lys		105158137	NM_006825	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398093	0.96030	0.0	1.16E-4	ENSG00000136026	ENST00000378026	T	0.76839	-1.05	5.79	5.79	0.91817	.	0.104285	0.64402	D	0.000003	D	0.87573	0.6211	M	0.72894	2.215	0.53005	D	0.999965	D	0.89917	1.0	D	0.79784	0.993	D	0.84386	0.0552	10	0.30078	T	0.28	-18.9369	20.0313	0.97540	0.0:1.0:0.0:0.0	.	202	Q07065	CKAP4_HUMAN	K	202	ENSP00000367265:E202K	ENSP00000367265:E202K	E	-	1	0	CKAP4	105158137	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	5.448000	0.66612	2.746000	0.94184	0.655000	0.94253	GAA		0.517	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1		
TCP11L2	255394	broad.mit.edu	37	12	106729450	106729450	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:106729450A>C	ENST00000299045.3	+	7	980	c.806A>C	c.(805-807)gAa>gCa	p.E269A		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	269								p.E269A(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TGGATAAAAGAATCTGTAAAT	0.413																																					p.E269A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A806C	12						.						63.0	67.0	65.0					12																	106729450		2203	4300	6503	105253580	SO:0001583	missense	255394	exon7			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.806A>C	12.37:g.106729450A>C	ENSP00000299045:p.Glu269Ala		105253580	NM_152772	B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624577	0.66901	.	.	ENSG00000166046	ENST00000299045	T	0.11385	2.78	6.03	4.89	0.63831	.	0.200232	0.53938	D	0.000055	T	0.24928	0.0605	M	0.64170	1.965	0.80722	D	1	D	0.56035	0.974	D	0.64877	0.93	T	0.03597	-1.1021	10	0.18276	T	0.48	-1.4969	11.8765	0.52550	0.9326:0.0:0.0674:0.0	.	269	Q8N4U5	T11L2_HUMAN	A	269	ENSP00000299045:E269A	ENSP00000299045:E269A	E	+	2	0	TCP11L2	105253580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.745000	0.62125	1.113000	0.41760	0.533000	0.62120	GAA		0.413	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772	
POLR3B	55703	broad.mit.edu	37	12	106838301	106838301	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:106838301C>T	ENST00000228347.4	+	19	2238	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	POLR3B_ENST00000539066.1_Silent_p.I614I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	672					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.I672I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTGGACTTATCCCATACCCTC	0.433																																					p.I672I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2016T	12						.						163.0	134.0	144.0					12																	106838301		2203	4300	6503	105362431	SO:0001819	synonymous_variant	55703	exon19			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2016C>T	12.37:g.106838301C>T			105362431	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	CCDS9105.1																																																																																				0.433	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
POLR3B	55703	broad.mit.edu	37	12	106848401	106848401	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:106848401T>G	ENST00000228347.4	+	20	2427	c.2205T>G	c.(2203-2205)gcT>gcG	p.A735A	POLR3B_ENST00000539066.1_Silent_p.A677A	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	735					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.A735A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AACTGCCAGCTGGACAGAATG	0.368																																					p.A735A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2205G	12						.						107.0	105.0	105.0					12																	106848401		2203	4300	6503	105372531	SO:0001819	synonymous_variant	55703	exon20			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2205T>G	12.37:g.106848401T>G			105372531	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	CCDS9105.1																																																																																				0.368	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
BTBD11	121551	broad.mit.edu	37	12	108035941	108035941	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:108035941T>G	ENST00000280758.5	+	14	3443	c.2915T>G	c.(2914-2916)aTc>aGc	p.I972S	BTBD11_ENST00000357167.4_Missense_Mutation_p.I509S|BTBD11_ENST00000420571.2_Missense_Mutation_p.I853S|BTBD11_ENST00000494235.2_Missense_Mutation_p.I51S|BTBD11_ENST00000490090.2_Missense_Mutation_p.I972S	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	972	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					integral component of membrane (GO:0016021)		p.I972S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAATACTCCATCTTTCAGGTG	0.517																																					p.I509S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1526G	12						.						131.0	121.0	124.0					12																	108035941		2203	4300	6503	106560071	SO:0001583	missense	121551	exon12			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2915T>G	12.37:g.108035941T>G	ENSP00000280758:p.Ile972Ser		106560071	NM_001017523	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591187	0.86851	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167;ENST00000494235	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.31	5.31	0.75309	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.091105	0.85682	D	0.000000	T	0.78375	0.4273	M	0.71036	2.16	0.41728	D	0.989542	B;D;D	0.62365	0.322;0.988;0.991	B;P;P	0.59595	0.406;0.856;0.86	T	0.81839	-0.0748	10	0.87932	D	0	.	15.2236	0.73333	0.0:0.0:0.0:1.0	.	509;972;972	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	S	972;853;972;509;51	ENSP00000280758:I972S;ENSP00000413889:I853S;ENSP00000447319:I972S;ENSP00000349690:I509S;ENSP00000448322:I51S	ENSP00000280758:I972S	I	+	2	0	BTBD11	106560071	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.855000	0.75445	2.138000	0.66242	0.459000	0.35465	ATC		0.517	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
WSCD2	9671	broad.mit.edu	37	12	108626650	108626650	+	Silent	SNP	C	C	T	rs371103273		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:108626650C>T	ENST00000332082.4	+	8	1940	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	WSCD2_ENST00000547525.1_Silent_p.F374F|WSCD2_ENST00000261400.3_Silent_p.F374F|WSCD2_ENST00000549903.1_Silent_p.F374F			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	374						integral component of membrane (GO:0016021)		p.F374F(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTACTACTTCGATGGCTCCC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19363	0.0		0.001	False		,,,				2504	0.0				p.F374F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1122T	12						.	C		0,4132		0,0,2066	48.0	47.0	47.0		1122	-4.4	0.5	12		47	3,8417		0,3,4207	no	coding-synonymous	WSCD2	NM_014653.2		0,3,6273	TT,TC,CC		0.0356,0.0,0.0239		374/566	108626650	3,12549	2066	4210	6276	107150780	SO:0001819	synonymous_variant	9671	exon7				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1122C>T	12.37:g.108626650C>T			107150780	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	CCDS41828.1																																																																																				0.577	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
CMKLR1	1240	broad.mit.edu	37	12	108686496	108686496	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:108686496C>T	ENST00000312143.7	-	3	607	c.244G>A	c.(244-246)Gca>Aca	p.A82T	CMKLR1_ENST00000550402.1_Missense_Mutation_p.A82T|CMKLR1_ENST00000412676.1_Missense_Mutation_p.A82T|CMKLR1_ENST00000397688.2_Missense_Mutation_p.A80T|CMKLR1_ENST00000552995.1_Missense_Mutation_p.A80T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	82					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.A80T(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCTGCCACTGCCAGGTTGAGG	0.512																																					p.A82T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	12						.						162.0	162.0	162.0					12																	108686496		2061	4200	6261	107210626	SO:0001583	missense	1240	exon4			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.244G>A	12.37:g.108686496C>T	ENSP00000311733:p.Ala82Thr		107210626	NM_001142343	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.518793	0.85495	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.306715	0.34750	N	0.003705	T	0.76905	0.4053	M	0.86864	2.845	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	T	0.81590	-0.0863	10	0.87932	D	0	.	17.3229	0.87241	0.0:1.0:0.0:0.0	.	82	Q99788	CML1_HUMAN	T	82;82;80;80;82;82;82	ENSP00000311733:A82T;ENSP00000401293:A82T;ENSP00000380803:A80T;ENSP00000447579:A80T;ENSP00000449716:A82T;ENSP00000448925:A82T;ENSP00000448362:A82T	ENSP00000311733:A82T	A	-	1	0	CMKLR1	107210626	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.883000	0.69721	2.439000	0.82584	0.472000	0.43445	GCA		0.512	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1		
ACACB	32	broad.mit.edu	37	12	109604733	109604733	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:109604733G>T	ENST00000338432.7	+	3	840	c.721G>T	c.(721-723)Gac>Tac	p.D241Y	ACACB_ENST00000377848.3_Missense_Mutation_p.D241Y|ACACB_ENST00000377854.5_Missense_Mutation_p.D241Y			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	241					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.D241Y(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCTGCACAGAGACTTTACCGT	0.587																																					p.D241Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G721T	12						.						91.0	83.0	86.0					12																	109604733		2203	4300	6503	108089116	SO:0001583	missense	32	exon2			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.721G>T	12.37:g.109604733G>T	ENSP00000341044:p.Asp241Tyr		108089116	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687119	0.88639	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.18174	2.23;2.23;2.23	5.31	5.31	0.75309	PreATP-grasp-like fold (1);	0.046599	0.85682	D	0.000000	T	0.43678	0.1258	M	0.83012	2.62	0.80722	D	1	D	0.55800	0.973	P	0.58577	0.841	T	0.48658	-0.9016	10	0.87932	D	0	.	18.5903	0.91208	0.0:0.0:1.0:0.0	.	241	O00763	ACACB_HUMAN	Y	241	ENSP00000341044:D241Y;ENSP00000367079:D241Y;ENSP00000367085:D241Y	ENSP00000341044:D241Y	D	+	1	0	ACACB	108089116	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.767000	0.98960	2.470000	0.83445	0.491000	0.48974	GAC		0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
FOXN4	121643	broad.mit.edu	37	12	109723257	109723257	+	Silent	SNP	G	G	A	rs140420569		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:109723257G>A	ENST00000299162.5	-	8	857	c.753C>T	c.(751-753)ttC>ttT	p.F251F	FOXN4_ENST00000355216.1_Silent_p.F71F	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	251					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F71F(1)|p.F251F(1)		large_intestine(5)|lung(9)|ovary(2)	16						CCACCTTCTCGAAGCACTTGT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20203	0.0		0.0	False		,,,				2504	0.001				p.F251F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C753T	12						.	G		1,4405	2.1+/-5.4	0,1,2202	103.0	94.0	97.0		753	-5.3	0.8	12	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	FOXN4	NM_213596.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		251/518	109723257	1,13005	2203	4300	6503	108207640	SO:0001819	synonymous_variant	121643	exon8			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.753C>T	12.37:g.109723257G>A			108207640	NM_213596	Q6ZMR4|Q96NZ0	Silent	SNP	ENST00000299162.5	37	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938259	0.73557	2.27E-4	0.0	ENSG00000139445	ENST00000266856	.	.	.	4.61	-5.33	0.02713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2429	14.4901	0.67645	0.7195:0.0:0.2805:0.0	.	.	.	.	X	210	.	ENSP00000266856:R210X	R	-	1	2	FOXN4	108207640	0.001000	0.12720	0.829000	0.32907	0.836000	0.47400	-0.689000	0.05144	-1.573000	0.01659	-0.350000	0.07774	CGA		0.592	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735	
TAS2R10	50839	broad.mit.edu	37	12	10978514	10978514	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:10978514G>T	ENST00000240619.2	-	1	443	c.355C>A	c.(355-357)Ctc>Atc	p.L119I		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	119					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)|taste receptor activity (GO:0008527)	p.L119I(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTCAACCAGAGAAATATGTAG	0.338																																					p.L119I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C355A	12						.						56.0	60.0	59.0					12																	10978514		2203	4299	6502	10869781	SO:0001583	missense	50839	exon1			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.355C>A	12.37:g.10978514G>T	ENSP00000240619:p.Leu119Ile		10869781	NM_023921	Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988450	0.53934	.	.	ENSG00000121318	ENST00000240619	T	0.01854	4.6	4.67	3.76	0.43208	.	0.284693	0.29028	N	0.013365	T	0.11580	0.0282	M	0.89095	3.005	0.24677	N	0.993383	D	0.57257	0.979	P	0.59546	0.859	T	0.01541	-1.1329	10	0.72032	D	0.01	.	11.3543	0.49607	0.0973:0.0:0.9027:0.0	.	119	Q9NYW0	T2R10_HUMAN	I	119	ENSP00000240619:L119I	ENSP00000240619:L119I	L	-	1	0	TAS2R10	10869781	0.022000	0.18835	0.988000	0.46212	0.544000	0.35116	0.381000	0.20619	2.305000	0.77605	0.591000	0.81541	CTC		0.338	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
MMAB	326625	broad.mit.edu	37	12	109998890	109998890	+	Missense_Mutation	SNP	G	G	A	rs368584846		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:109998890G>A	ENST00000545712.2	-	7	932	c.539C>T	c.(538-540)tCg>tTg	p.S180L	MMAB_ENST00000266839.5_Missense_Mutation_p.S89L|MMAB_ENST00000540016.1_Missense_Mutation_p.S128L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	180					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCAGCGCCGAGCTGATCTT	0.642																																					p.S180L												.	.	0			c.C539T	12	GRCh37	CM061123	MMAB	M		.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	53.0	52.0	52.0		539	3.0	0.1	12		52	0,8600		0,0,4300	no	missense	MMAB	NM_052845.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	180/251	109998890	1,13005	2203	4300	6503	108483273	SO:0001583	missense	326625	exon7			AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.539C>T	12.37:g.109998890G>A	ENSP00000445920:p.Ser180Leu		108483273	NM_052845	C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690284	0.48097	2.27E-4	0.0	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.95412	-2.77;-3.7	4.91	3.05	0.35203	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.410282	0.25349	N	0.031317	D	0.96827	0.8964	M	0.81802	2.56	0.27682	N	0.946404	D;D;D	0.65815	0.987;0.991;0.995	P;P;P	0.59171	0.853;0.75;0.75	D	0.92739	0.6206	10	0.72032	D	0.01	-4.7551	12.893	0.58082	0.0:0.3128:0.6872:0.0	.	89;180;180	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	L	180;89	ENSP00000445920:S180L;ENSP00000266839:S89L	ENSP00000266839:S89L	S	-	2	0	MMAB	108483273	0.938000	0.31826	0.054000	0.19295	0.113000	0.19764	5.580000	0.67464	0.638000	0.30545	-0.181000	0.13052	TCG		0.642	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2		
TRPV4	59341	broad.mit.edu	37	12	110240886	110240886	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:110240886C>T	ENST00000418703.2	-	3	716	c.622G>A	c.(622-624)Gac>Aac	p.D208N	TRPV4_ENST00000536838.1_Missense_Mutation_p.D174N|TRPV4_ENST00000537083.1_Missense_Mutation_p.D208N|TRPV4_ENST00000544971.1_Missense_Mutation_p.D208N|TRPV4_ENST00000346520.2_Missense_Mutation_p.D208N|TRPV4_ENST00000261740.2_Missense_Mutation_p.D208N|TRPV4_ENST00000392719.2_Missense_Mutation_p.D208N|TRPV4_ENST00000541794.1_Missense_Mutation_p.D208N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	208					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.D208N(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						GGGATGGTGTCGTTGCGGCCA	0.592																																					p.D208N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622A	12						.						130.0	103.0	112.0					12																	110240886		2203	4300	6503	108725269	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.622G>A	12.37:g.110240886C>T	ENSP00000406191:p.Asp208Asn		108725269	NM_021625	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599208	0.46318	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89681	-2.52;-2.52;-2.36;-2.55;-2.36;-2.55;-2.36;-2.54	4.51	3.62	0.41486	.	0.340024	0.32578	N	0.005910	D	0.85318	0.5669	L	0.59436	1.845	0.25547	N	0.987128	B;B;B;B;B	0.22746	0.06;0.03;0.074;0.019;0.031	B;B;B;B;B	0.20384	0.015;0.005;0.029;0.012;0.01	T	0.73861	-0.3849	10	0.31617	T	0.26	-9.1323	11.5578	0.50759	0.0:0.9115:0.0:0.0885	.	208;208;208;208;174	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	N	208;208;208;208;208;208;208;174	ENSP00000406191:D208N;ENSP00000261740:D208N;ENSP00000376480:D208N;ENSP00000319003:D208N;ENSP00000443611:D208N;ENSP00000442738:D208N;ENSP00000442167:D208N;ENSP00000444336:D174N	ENSP00000261740:D208N	D	-	1	0	TRPV4	108725269	0.993000	0.37304	0.846000	0.33378	0.663000	0.39108	3.065000	0.49994	1.038000	0.40049	0.561000	0.74099	GAC		0.592	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
HVCN1	84329	broad.mit.edu	37	12	111089070	111089070	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:111089070C>A	ENST00000356742.5	-	5	1348	c.595G>T	c.(595-597)Ggc>Tgc	p.G199C	HVCN1_ENST00000439744.2_Missense_Mutation_p.G179C|HVCN1_ENST00000548312.1_Missense_Mutation_p.G199C|HVCN1_ENST00000242607.8_Missense_Mutation_p.G199C			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	199					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.G199C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATCAGCAGGCCCAGAGCCTCA	0.582																																					p.G199C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G595T	12						.						83.0	71.0	75.0					12																	111089070		2203	4300	6503	109573453	SO:0001583	missense	84329	exon6			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.595G>T	12.37:g.111089070C>A	ENSP00000349181:p.Gly199Cys		109573453	NM_032369	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.635795	0.87760	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	5.61	4.72	0.59763	Ion transport (1);	0.090793	0.85682	D	0.000000	D	0.99080	0.9684	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	D	0.99387	1.0924	10	0.87932	D	0	-29.83	14.0532	0.64751	0.0:0.9279:0.0:0.0721	.	199;199	Q96D96;Q96D96-3	HVCN1_HUMAN;.	C	199;199;199;179	ENSP00000449601:G199C;ENSP00000242607:G199C;ENSP00000349181:G199C;ENSP00000412052:G179C	ENSP00000242607:G199C	G	-	1	0	HVCN1	109573453	1.000000	0.71417	0.211000	0.23655	0.955000	0.61496	6.062000	0.71155	1.375000	0.46248	0.556000	0.70494	GGC		0.582	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369	
TAS2R50	259296	broad.mit.edu	37	12	11138589	11138589	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:11138589G>A	ENST00000506868.1	-	1	922	c.871C>T	c.(871-873)Ctt>Ttt	p.L291F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	291					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.L291F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AAAATCAAAAGAAAGGTGTGT	0.398																																					p.L291F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C871T	12						.						82.0	92.0	89.0					12																	11138589		2202	4300	6502	11029856	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.871C>T	12.37:g.11138589G>A	ENSP00000424040:p.Leu291Phe		11029856	NM_176890	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229497	0.22542	.	.	ENSG00000212126	ENST00000506868	T	0.39056	1.1	1.29	1.29	0.21616	.	1.327670	0.05674	U	0.589166	T	0.54287	0.1849	M	0.90922	3.16	0.09310	N	1	P	0.46912	0.886	B	0.43728	0.429	T	0.50039	-0.8874	10	0.72032	D	0.01	.	5.8354	0.18605	0.0:0.0:1.0:0.0	.	291	P59544	T2R50_HUMAN	F	291	ENSP00000424040:L291F	ENSP00000424040:L291F	L	-	1	0	TAS2R50	11029856	0.003000	0.15002	0.007000	0.13788	0.235000	0.25334	0.248000	0.18198	0.662000	0.31006	0.313000	0.20887	CTT		0.398	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890	
TAS2R20	259295	broad.mit.edu	37	12	11149711	11149711	+	Missense_Mutation	SNP	C	C	T	rs10845279	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:11149711C>T	ENST00000538986.1	-	1	763	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	255			R -> L (in dbSNP:rs10845279). {ECO:0000269|PubMed:15496549}.		sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R255Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTCTTTTGGTCGCATCTTAAA	0.373																																					p.R255Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764A	12						.						110.0	109.0	109.0					12																	11149711		2203	4300	6503	11040978	SO:0001583	missense	259295	exon1			AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.764G>A	12.37:g.11149711C>T	ENSP00000441624:p.Arg255Gln		11040978	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	C	4.458	0.084755	0.08583	.	.	ENSG00000255837	ENST00000538986	T	0.00737	5.76	2.66	-5.32	0.02722	.	2.067560	0.05057	N	0.479233	T	0.00271	0.0008	N	0.00179	-1.91	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.49204	-0.8964	9	0.25751	T	0.34	.	4.8332	0.13451	0.2999:0.1236:0.0:0.5765	.	255	P59543	T2R20_HUMAN	Q	255	ENSP00000441624:R255Q	ENSP00000441624:R255Q	R	-	2	0	TAS2R20	11040978	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.312000	0.02720	-1.408000	0.02040	-0.383000	0.06682	CGA		0.373	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889	
CUX2	23316	broad.mit.edu	37	12	111731268	111731268	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:111731268C>T	ENST00000261726.6	+	6	609	c.455C>T	c.(454-456)tCg>tTg	p.S152L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	152					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.S152L(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						GAGGGGACGTCGCCTGCCGGG	0.597																																					p.S152L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C455T	12						.						22.0	28.0	26.0					12																	111731268		2100	4227	6327	110215651	SO:0001583	missense	23316	exon6			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.455C>T	12.37:g.111731268C>T	ENSP00000261726:p.Ser152Leu		110215651	NM_015267	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913600	0.33815	.	.	ENSG00000111249	ENST00000261726;ENST00000397643;ENST00000552889	T	0.38240	1.15	5.11	3.21	0.36854	.	0.834057	0.10700	N	0.644223	T	0.20414	0.0491	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23833	-1.0177	10	0.31617	T	0.26	-2.0E-4	6.0463	0.19762	0.0:0.5964:0.1741:0.2294	.	212;152	F5GWR6;O14529	.;CUX2_HUMAN	L	152;212;90	ENSP00000261726:S152L	ENSP00000261726:S152L	S	+	2	0	CUX2	110215651	0.065000	0.20965	0.355000	0.25773	0.918000	0.54935	2.037000	0.41174	0.477000	0.27464	-0.379000	0.06801	TCG		0.597	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
BRAP	8315	broad.mit.edu	37	12	112119571	112119571	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:112119571C>A	ENST00000327551.6	-	3	363	c.223G>T	c.(223-225)Gat>Tat	p.D75Y	BRAP_ENST00000419234.4_Missense_Mutation_p.D105Y|BRAP_ENST00000539060.1_5'Flank			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D105Y(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TTACTGTGATCTTTACTTCTT	0.403																																					p.D105Y	Pancreas(146;846 1904 7830 25130 26065)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313T	12						.						174.0	158.0	163.0					12																	112119571		2203	4300	6503	110603954	SO:0001583	missense	8315	exon3			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.223G>T	12.37:g.112119571C>A	ENSP00000330813:p.Asp75Tyr		110603954	NM_006768	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37		.	.	.	.	.	.	.	.	.	.	C	11.96	1.793868	0.31777	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	T;T	0.48201	0.82;0.84	6.08	5.19	0.71726	.	0.387996	0.28146	N	0.016426	T	0.46249	0.1383	L	0.53249	1.67	0.80722	D	1	P	0.44195	0.828	B	0.40782	0.34	T	0.51108	-0.8747	10	0.66056	D	0.02	-12.2798	14.8278	0.70128	0.0:0.9316:0.0:0.0684	.	105	Q7Z569	BRAP_HUMAN	Y	105;75	ENSP00000403524:D105Y;ENSP00000330813:D75Y	ENSP00000330813:D75Y	D	-	1	0	BRAP	110603954	0.107000	0.21998	0.921000	0.36526	0.275000	0.26752	1.223000	0.32527	2.890000	0.99128	0.655000	0.94253	GAT		0.403	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2		
TAS2R30	259293	broad.mit.edu	37	12	11286391	11286391	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:11286391C>T	ENST00000539585.1	-	1	852	c.453G>A	c.(451-453)gaG>gaA	p.E151E	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	151					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.E151E(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TCCATACAGTCTCATCCATGT	0.378																																					p.E151E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G453A	12						.						128.0	138.0	134.0					12																	11286391		2190	4295	6485	11177658	SO:0001819	synonymous_variant	259293	exon1			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.453G>A	12.37:g.11286391C>T			11177658	NM_001097643	Q645X7	Silent	SNP	ENST00000539585.1	37	CCDS53750.1																																																																																				0.378	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643	
NAA25	80018	broad.mit.edu	37	12	112528533	112528533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:112528533G>A	ENST00000261745.4	-	3	528	c.280C>T	c.(280-282)Cga>Tga	p.R94*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	94						cytoplasm (GO:0005737)		p.R94R(1)|p.R94*(1)		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						AACATACGTCGGTGCATCTCC	0.433																																					p.R94X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C280T	12						.						131.0	116.0	122.0					12																	112528533		2203	4300	6503	111012916	SO:0001587	stop_gained	80018	exon3			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.280C>T	12.37:g.112528533G>A	ENSP00000261745:p.Arg94*		111012916	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.73|14.73	2.621886|2.621886	0.46840|0.46840	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000547133|ENST00000261745	.|.	.|.	.|.	5.51|5.51	3.49|3.49	0.39957|0.39957	.|.	.|0.068239	.|0.64402	.|D	.|0.000013	T|.	0.24699|.	0.0599|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30880|.	-0.9963|.	3|.	.|0.02654	.|T	.|1	.|.	10.4363|10.4363	0.44437|0.44437	0.0809:0.0:0.749:0.17|0.0809:0.0:0.749:0.17	.|.	.|.	.|.	.|.	L|X	55|94	.|.	.|ENSP00000261745:R94X	P|R	-|-	2|1	0|2	NAA25|NAA25	111012916|111012916	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.776000|0.776000	0.43924|0.43924	3.642000|3.642000	0.54367|0.54367	1.317000|1.317000	0.45149|0.45149	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.433	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
OAS1	4938	broad.mit.edu	37	12	113357227	113357227	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:113357227G>A	ENST00000202917.5	+	6	1335	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	OAS1_ENST00000551241.1_Intron|OAS1_ENST00000445409.2_Intron|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	358					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.D358N(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TGAGACCGACGATCCCAGGAG	0.507																																					p.D358N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1072A	12						.						98.0	95.0	96.0					12																	113357227		2203	4300	6503	111841610	SO:0001583	missense	4938	exon6			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1072G>A	12.37:g.113357227G>A	ENSP00000202917:p.Asp358Asn		111841610	NM_016816	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	1.932	-0.445721	0.04604	.	.	ENSG00000089127	ENST00000202917	T	0.05025	3.51	1.86	-0.118	0.13547	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.24043	0.096	B	0.13407	0.009	T	0.48019	-0.9071	9	0.17369	T	0.5	.	3.9518	0.09372	0.0:0.2676:0.4595:0.273	.	358	P00973	OAS1_HUMAN	N	358	ENSP00000202917:D358N	ENSP00000202917:D358N	D	+	1	0	OAS1	111841610	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.385000	0.07379	-0.037000	0.13646	0.557000	0.71058	GAT		0.507	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		
OAS3	4940	broad.mit.edu	37	12	113400570	113400570	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:113400570C>A	ENST00000228928.7	+	9	2126	c.1947C>A	c.(1945-1947)ttC>ttA	p.F649L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	649	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.F649L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGGATTGTTTCAACATGGCCC	0.597																																					p.F649L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1947A	12						.						118.0	127.0	124.0					12																	113400570		2044	4206	6250	111884953	SO:0001583	missense	4940	exon9			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.1947C>A	12.37:g.113400570C>A	ENSP00000228928:p.Phe649Leu		111884953	NM_006187	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253023	0.59212	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.50277	0.75	4.1	3.21	0.36854	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.66509	0.2796	M	0.81239	2.535	0.24293	N	0.995153	D	0.89917	1.0	D	0.91635	0.999	T	0.54214	-0.8327	9	0.87932	D	0	.	7.4455	0.27209	0.0:0.8793:0.0:0.1207	.	649	Q9Y6K5	OAS3_HUMAN	L	649;648	ENSP00000228928:F649L	ENSP00000228928:F649L	F	+	3	2	OAS3	111884953	0.007000	0.16637	0.037000	0.18230	0.031000	0.12232	-0.200000	0.09478	0.936000	0.37367	0.655000	0.94253	TTC		0.597	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1		
OAS2	4939	broad.mit.edu	37	12	113425046	113425046	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:113425046C>A	ENST00000342315.4	+	2	595	c.381C>A	c.(379-381)ttC>ttA	p.F127L	OAS2_ENST00000392583.2_Missense_Mutation_p.F127L|OAS2_ENST00000449768.2_Missense_Mutation_p.F127L|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	127	OAS domain 1.			F -> S (in Ref. 1; AAA60607/AAA60606). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.F127L(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGATGGGTTCACCATCCAGG	0.468																																					p.F127L	Pancreas(199;709 2232 18410 33584 35052)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C381A	12						.						70.0	71.0	70.0					12																	113425046		2203	4300	6503	111909429	SO:0001583	missense	4939	exon2			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.381C>A	12.37:g.113425046C>A	ENSP00000342278:p.Phe127Leu		111909429	NM_001032731	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	C	1.750	-0.489384	0.04352	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000449768	T;T;T	0.11930	2.73;2.73;2.73	3.13	1.04	0.20106	.	.	.	.	.	T	0.04092	0.0114	N	0.02842	-0.48	0.09310	N	1	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.08055	0.0;0.0;0.003	T	0.45101	-0.9284	9	0.09590	T	0.72	-8.0633	3.9059	0.09182	0.0:0.6018:0.2523:0.1458	.	127;127;127	P29728;P29728-2;Q6PJ33	OAS2_HUMAN;.;.	L	127	ENSP00000342278:F127L;ENSP00000376362:F127L;ENSP00000411763:F127L	ENSP00000342278:F127L	F	+	3	2	OAS2	111909429	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.615000	0.24329	0.656000	0.30886	-0.136000	0.14681	TTC		0.468	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
OAS2	4939	broad.mit.edu	37	12	113448232	113448232	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:113448232G>T	ENST00000342315.4	+	11	2317	c.2103G>T	c.(2101-2103)gaG>gaT	p.E701D	OAS2_ENST00000392583.2_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	701					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.E701D(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGTCAATGAGATGTTCTCAT	0.403																																					p.E701D	Pancreas(199;709 2232 18410 33584 35052)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2103T	12						.						229.0	239.0	236.0					12																	113448232		2203	4300	6503	111932615	SO:0001583	missense	4939	exon11			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2103G>T	12.37:g.113448232G>T	ENSP00000342278:p.Glu701Asp		111932615	NM_016817	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	11.56	1.675347	0.29783	.	.	ENSG00000111335	ENST00000342315	T	0.07567	3.18	3.34	0.301	0.15781	.	.	.	.	.	T	0.05364	0.0142	L	0.29908	0.895	0.09310	N	1	P	0.40970	0.734	B	0.37015	0.239	T	0.37641	-0.9697	9	0.33141	T	0.24	-30.0675	5.1538	0.15025	0.1238:0.4216:0.4546:0.0	.	701	P29728	OAS2_HUMAN	D	701	ENSP00000342278:E701D	ENSP00000342278:E701D	E	+	3	2	OAS2	111932615	0.045000	0.20229	0.007000	0.13788	0.005000	0.04900	1.619000	0.36965	0.058000	0.16222	-0.165000	0.13383	GAG		0.403	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
RBM19	9904	broad.mit.edu	37	12	114261059	114261059	+	Silent	SNP	G	G	A	rs374081569		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:114261059G>A	ENST00000545145.2	-	24	2931	c.2853C>T	c.(2851-2853)agC>agT	p.S951S	RBM19_ENST00000261741.5_Silent_p.S951S|RBM19_ENST00000392561.3_Silent_p.S951S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	951					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)			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)					CCTCGCTGTCGCTGTCACTGC	0.627																																					p.S951S												.	.	0			c.C2853T	12						.						51.0	45.0	47.0					12																	114261059		2203	4300	6503	112745442	SO:0001819	synonymous_variant	9904	exon24			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.2853C>T	12.37:g.114261059G>A			112745442	NM_016196	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																				0.627	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
NOS1	4842	broad.mit.edu	37	12	117665300	117665300	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:117665300G>T	ENST00000338101.4	-	23	3658	c.3654C>A	c.(3652-3654)tcC>tcA	p.S1218S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.S1184S			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.S1184S(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)		TGTCTGGGGAGGAGCTGATGG	0.617																																					p.S1184S	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3552A	12						.						71.0	84.0	80.0					12																	117665300		2102	4227	6329	116149683	SO:0001819	synonymous_variant	4842	exon23				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.3654C>A	12.37:g.117665300G>T			116149683	NM_000620		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
KSR2	283455	broad.mit.edu	37	12	117962937	117962937	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:117962937G>A	ENST00000339824.5	-	14	2666	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R344C|KSR2_ENST00000425217.1_Missense_Mutation_p.R618C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	647					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R679C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGCCTTGCGTGGGAAGCTC	0.587																																					p.R618C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1852T	12						.						64.0	70.0	68.0					12																	117962937		2126	4251	6377	116447320	SO:0001583	missense	283455	exon14			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1939C>T	12.37:g.117962937G>A	ENSP00000339952:p.Arg647Cys		116447320	NM_173598	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	G	22.9	4.355386	0.82243	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.89415	-2.51;-2.51;-2.51	4.79	3.91	0.45181	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93954	0.7234	10	0.87932	D	0	.	13.067	0.59038	0.0775:0.0:0.9225:0.0	.	647	Q6VAB6	KSR2_HUMAN	C	618;647;344;319	ENSP00000389715:R618C;ENSP00000339952:R647C;ENSP00000305466:R344C	ENSP00000305466:R344C	R	-	1	0	KSR2	116447320	1.000000	0.71417	0.873000	0.34254	0.915000	0.54546	9.657000	0.98554	1.245000	0.43885	-0.142000	0.14014	CGC		0.587	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
KSR2	283455	broad.mit.edu	37	12	118405898	118405898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:118405898C>A	ENST00000339824.5	-	1	890	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	KSR2_ENST00000425217.1_Nonsense_Mutation_p.E26*			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	55					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E87*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGGATTTCTTTTTGTGTG	0.458																																					p.E26X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G76T	12						.						216.0	188.0	197.0					12																	118405898		1568	3582	5150	116890281	SO:0001587	stop_gained	283455	exon1			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.163G>T	12.37:g.118405898C>A	ENSP00000339952:p.Glu55*		116890281	NM_173598	A0PJT2|Q3B828|Q8N775	Nonsense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	C	39	7.471112	0.98306	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.2228	0.73327	0.0:1.0:0.0:0.0	.	.	.	.	X	26;55	.	ENSP00000339952:E55X	E	-	1	0	KSR2	116890281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.802000	0.75175	2.158000	0.67659	0.491000	0.48974	GAA		0.458	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
RFC5	5985	broad.mit.edu	37	12	118457550	118457550	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:118457550G>T	ENST00000454402.2	+	3	362	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	RFC5_ENST00000229043.3_5'UTR|RFC5_ENST00000392542.2_Nonsense_Mutation_p.E61*	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	82					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)|enzyme binding (GO:0019899)	p.E82*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAAAGACAAAGAATTTGGCTC	0.423																																					p.E61X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G181T	12						.						89.0	83.0	85.0					12																	118457550		2203	4300	6503	116941933	SO:0001587	stop_gained	5985	exon4				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.244G>T	12.37:g.118457550G>T	ENSP00000408295:p.Glu82*		116941933	NM_181578	A8MZ62|B3KSX8	Nonsense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	36	5.937311	0.97122	.	.	ENSG00000111445	ENST00000484086;ENST00000420967;ENST00000454402;ENST00000392542;ENST00000535092	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-0.9433	17.519	0.87782	0.0:0.0:1.0:0.0	.	.	.	.	X	114;61;82;61;61	.	ENSP00000376325:E61X	E	+	1	0	RFC5	116941933	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	9.454000	0.97621	2.669000	0.90835	0.655000	0.94253	GAA		0.423	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370	
RFC5	5985	broad.mit.edu	37	12	118462685	118462685	+	Missense_Mutation	SNP	T	T	G	rs370871299		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:118462685T>G	ENST00000454402.2	+	6	569	c.451T>G	c.(451-453)Ttc>Gtc	p.F151V	RFC5_ENST00000229043.3_Missense_Mutation_p.F66V|RFC5_ENST00000392542.2_Missense_Mutation_p.F130V	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	151					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)|enzyme binding (GO:0019899)	p.F151V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATACCAGATTCTGCCTCAT	0.438																																					p.F66V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T196G	12						.	T	VAL/PHE,VAL/PHE,VAL/PHE,VAL/PHE	0,4406		0,0,2203	80.0	84.0	83.0		196,451,451,388	5.5	1.0	12		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RFC5	NM_001130112.2,NM_001206801.1,NM_007370.5,NM_181578.3	50,50,50,50	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	66/256,151/338,151/341,130/320	118462685	1,13005	2203	4300	6503	116947068	SO:0001583	missense	5985	exon7				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.451T>G	12.37:g.118462685T>G	ENSP00000408295:p.Phe151Val		116947068	NM_001130112	A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693940	0.88735	0.0	1.16E-4	ENSG00000111445	ENST00000449641;ENST00000537315;ENST00000229043;ENST00000454402;ENST00000392542	T;T;D	0.91237	0.9;1.14;-2.81	5.47	5.47	0.80525	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.996	D	0.96150	0.9107	10	0.87932	D	0	-21.2422	14.5424	0.68005	0.0:0.0:0.0:1.0	.	130;165;151	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	V	66;66;66;151;130	ENSP00000229043:F66V;ENSP00000408295:F151V;ENSP00000376325:F130V	ENSP00000229043:F66V	F	+	1	0	RFC5	116947068	1.000000	0.71417	0.995000	0.50966	0.781000	0.44180	7.934000	0.87649	2.071000	0.62044	0.460000	0.39030	TTC		0.438	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370	
TAOK3	51347	broad.mit.edu	37	12	118615027	118615027	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:118615027A>C	ENST00000392533.3	-	16	2164	c.1674T>G	c.(1672-1674)atT>atG	p.I558M	TAOK3_ENST00000537952.1_Missense_Mutation_p.I98M|TAOK3_ENST00000419821.2_Missense_Mutation_p.I558M	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	558					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.I558M(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCCTTACAAATCTTATACT	0.378																																					p.I558M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1674G	12						.						220.0	207.0	211.0					12																	118615027		2203	4300	6503	117099410	SO:0001583	missense	51347	exon16			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.1674T>G	12.37:g.118615027A>C	ENSP00000376317:p.Ile558Met		117099410	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123796	0.37436	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.46451	0.87;0.87;0.87	5.24	4.1	0.47936	.	0.311639	0.35466	N	0.003194	T	0.33352	0.0860	L	0.34521	1.04	0.32216	N	0.575911	B	0.20261	0.043	B	0.24974	0.057	T	0.41413	-0.9510	10	0.59425	D	0.04	.	10.9182	0.47148	0.9269:0.0:0.0731:0.0	.	558	Q9H2K8	TAOK3_HUMAN	M	558;558;98;178	ENSP00000416374:I558M;ENSP00000376317:I558M;ENSP00000443834:I98M	ENSP00000352863:I178M	I	-	3	3	TAOK3	117099410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.434000	0.52841	1.024000	0.39682	0.454000	0.30748	ATT		0.378	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
SRRM4	84530	broad.mit.edu	37	12	119563252	119563252	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:119563252C>A	ENST00000267260.4	+	7	970	c.582C>A	c.(580-582)agC>agA	p.S194R	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	194	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.S194R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGTCCCAGAGCTCGGAGTCCC	0.627																																					p.S194R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C582A	12						.						40.0	51.0	47.0					12																	119563252		2035	4176	6211	118047635	SO:0001583	missense	84530	exon7			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.582C>A	12.37:g.119563252C>A	ENSP00000267260:p.Ser194Arg		118047635	NM_194286	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105904	0.56291	.	.	ENSG00000139767	ENST00000267260	T	0.27256	1.68	5.66	1.7	0.24286	.	0.113583	0.64402	D	0.000012	T	0.42337	0.1198	L	0.61218	1.895	0.34948	D	0.750936	D	0.76494	0.999	D	0.83275	0.996	T	0.48864	-0.8997	10	0.46703	T	0.11	-15.2355	8.6339	0.33936	0.0:0.6826:0.0:0.3174	.	194	A7MD48	SRRM4_HUMAN	R	194	ENSP00000267260:S194R	ENSP00000267260:S194R	S	+	3	2	SRRM4	118047635	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	0.784000	0.26816	0.034000	0.15491	0.655000	0.94253	AGC		0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
SRRM4	84530	broad.mit.edu	37	12	119583193	119583193	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:119583193G>T	ENST00000267260.4	+	9	1167	c.779G>T	c.(778-780)gGg>gTg	p.G260V		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	260	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.G260V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGATCACTGGGTCGGGGTCT	0.542																																					p.G260V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G779T	12						.						26.0	28.0	27.0					12																	119583193		1961	4137	6098	118067576	SO:0001583	missense	84530	exon9			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.779G>T	12.37:g.119583193G>T	ENSP00000267260:p.Gly260Val		118067576	NM_194286	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224999	0.58668	.	.	ENSG00000139767	ENST00000267260	T	0.22945	1.93	5.48	3.63	0.41609	.	0.371326	0.25801	N	0.028214	T	0.18882	0.0453	L	0.44542	1.39	0.52501	D	0.999955	P	0.39216	0.664	B	0.38616	0.277	T	0.01330	-1.1383	9	.	.	.	-16.1623	5.5641	0.17160	0.3287:0.0:0.6713:0.0	.	260	A7MD48	SRRM4_HUMAN	V	260	ENSP00000267260:G260V	.	G	+	2	0	SRRM4	118067576	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.565000	0.53798	2.575000	0.86900	0.655000	0.94253	GGG		0.542	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
CIT	11113	broad.mit.edu	37	12	120260630	120260630	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:120260630G>A	ENST00000261833.7	-	9	1157	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	CIT_ENST00000392521.2_Missense_Mutation_p.R369C	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	369	AGC-kinase C-terminal.				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.R369C(1)|p.R370C(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)		TTACAGTTACGAATGTTGTTC	0.408																																					p.R369C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1105T	12						.						115.0	106.0	109.0					12																	120260630		2203	4300	6503	118745013	SO:0001583	missense	11113	exon9			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.1105C>T	12.37:g.120260630G>A	ENSP00000261833:p.Arg369Cys		118745013	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422639	0.83559	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.41758	0.99;0.99	5.9	5.9	0.94986	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.85777	2.775	0.80722	D	1	D;P	0.89917	1.0;0.674	D;P	0.79108	0.992;0.459	T	0.74070	-0.3783	10	0.87932	D	0	.	20.2556	0.98417	0.0:0.0:1.0:0.0	.	369;369	Q2M5E1;O14578	.;CTRO_HUMAN	C	369	ENSP00000376306:R369C;ENSP00000261833:R369C	ENSP00000261833:R369C	R	-	1	0	CIT	118745013	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	5.893000	0.69798	2.791000	0.96007	0.655000	0.94253	CGT		0.408	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
GCN1L1	10985	broad.mit.edu	37	12	120592799	120592799	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:120592799A>C	ENST00000300648.6	-	31	3688	c.3676T>G	c.(3676-3678)Tct>Gct	p.S1226A	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1226					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.S1226A(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)					TCTGGAGGAGATTCTGAAATA	0.527																																					p.S1226A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3676G	12						.						77.0	87.0	83.0					12																	120592799		1972	4152	6124	119077182	SO:0001583	missense	10985	exon31			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.3676T>G	12.37:g.120592799A>C	ENSP00000300648:p.Ser1226Ala		119077182	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660578	0.29515	.	.	ENSG00000089154	ENST00000300648	T	0.44482	0.92	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.055502	0.64402	D	0.000001	T	0.32793	0.0841	L	0.35542	1.07	0.53005	D	0.999962	B	0.06786	0.001	B	0.04013	0.001	T	0.12528	-1.0544	10	0.13853	T	0.58	.	15.9839	0.80133	1.0:0.0:0.0:0.0	.	1226	Q92616	GCN1L_HUMAN	A	1226	ENSP00000300648:S1226A	ENSP00000300648:S1226A	S	-	1	0	GCN1L1	119077182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.414000	0.52693	2.171000	0.68590	0.482000	0.46254	TCT		0.527	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
GCN1L1	10985	broad.mit.edu	37	12	120606036	120606036	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:120606036A>C	ENST00000300648.6	-	16	1600	c.1588T>G	c.(1588-1590)Ttc>Gtc	p.F530V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	530					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.F530V(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)					ATGACCAGGAATTTCTCAGAA	0.453																																					p.F530V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1588G	12						.						153.0	143.0	146.0					12																	120606036		1892	4135	6027	119090419	SO:0001583	missense	10985	exon16			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.1588T>G	12.37:g.120606036A>C	ENSP00000300648:p.Phe530Val		119090419	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.832314	0.91036	.	.	ENSG00000089154	ENST00000300648	T	0.47177	0.85	5.64	5.64	0.86602	Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	T	0.63752	-0.6566	10	0.08599	T	0.76	-27.9997	15.8553	0.78975	1.0:0.0:0.0:0.0	.	530	Q92616	GCN1L_HUMAN	V	530	ENSP00000300648:F530V	ENSP00000300648:F530V	F	-	1	0	GCN1L1	119090419	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.600000	0.90860	2.151000	0.67156	0.460000	0.39030	TTC		0.453	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
SIRT4	23409	broad.mit.edu	37	12	120750519	120750519	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:120750519C>T	ENST00000202967.4	+	3	817	c.758C>T	c.(757-759)gCc>gTc	p.A253V	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4									p.A253V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTAAAAGAAGCCGACTCCCTC	0.522																																					p.A253V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C758T	12						.						66.0	63.0	64.0					12																	120750519		2203	4300	6503	119234902	SO:0001583	missense	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.758C>T	12.37:g.120750519C>T	ENSP00000202967:p.Ala253Val		119234902	NM_012240		Missense_Mutation	SNP	ENST00000202967.4	37	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209140	0.95069	.	.	ENSG00000089163	ENST00000202967	T	0.45668	0.89	4.59	4.59	0.56863	.	0.109676	0.64402	D	0.000007	T	0.58666	0.2138	M	0.83384	2.64	0.58432	D	0.999992	P	0.45768	0.866	P	0.48770	0.589	T	0.68131	-0.5490	10	0.72032	D	0.01	-23.7192	18.3396	0.90300	0.0:1.0:0.0:0.0	.	253	Q9Y6E7	SIRT4_HUMAN	V	253	ENSP00000202967:A253V	ENSP00000202967:A253V	A	+	2	0	SIRT4	119234902	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.710000	0.68392	2.490000	0.84030	0.650000	0.86243	GCC		0.522	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240	
CABP1	9478	broad.mit.edu	37	12	121088474	121088474	+	Intron	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:121088474C>A	ENST00000316803.3	+	2	788				CABP1_ENST00000351200.2_Missense_Mutation_p.L12I|CABP1_ENST00000288616.3_Missense_Mutation_p.L12I	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)	p.L12I(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGAGAAATCTCTCAAGGAA	0.547																																					p.L12I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C34A	12						.						100.0	102.0	101.0					12																	121088474		2203	4300	6503	119572857	SO:0001627	intron_variant	9478	exon1			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-9207C>A	12.37:g.121088474C>A			119572857	NM_031205	O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127682	0.56721	.	.	ENSG00000157782	ENST00000288616;ENST00000351200	T;T	0.71461	-0.57;-0.57	5.83	5.83	0.93111	.	.	.	.	.	T	0.71945	0.3400	N	0.08118	0	0.80722	D	1	B;D	0.56035	0.007;0.974	B;D	0.67725	0.007;0.953	T	0.76868	-0.2800	9	0.52906	T	0.07	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	12;12	Q9NZU7-2;Q9NZU7-1	.;.	I	12	ENSP00000288616:L12I;ENSP00000288615:L12I	ENSP00000288616:L12I	L	+	1	0	CABP1	119572857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.080000	0.64437	2.769000	0.95229	0.655000	0.94253	CTC		0.547	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677	
KDM2B	84678	broad.mit.edu	37	12	121970784	121970784	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:121970784G>T	ENST00000377071.4	-	8	930	c.858C>A	c.(856-858)atC>atA	p.I286I	KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000536437.1_Silent_p.I169I|KDM2B_ENST00000543852.1_Silent_p.I55I|KDM2B_ENST00000377069.4_Silent_p.I255I	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	286	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.I286I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCCCAGAAAGATGTCACTCT	0.517																																					p.I286I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C858A	12						.						91.0	95.0	94.0					12																	121970784		2060	4212	6272	120455167	SO:0001819	synonymous_variant	84678	exon8			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.858C>A	12.37:g.121970784G>T			120455167	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	CCDS41850.1																																																																																				0.517	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
WDR66	144406	broad.mit.edu	37	12	122398590	122398590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:122398590C>T	ENST00000288912.4	+	14	3087	c.2233C>T	c.(2233-2235)Cga>Tga	p.R745*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.R745*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	745							calcium ion binding (GO:0005509)	p.R745*(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)		CAAAAGCATTCGAAGTCTCCT	0.488																																					p.R745X	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2233T	12						.						129.0	126.0	127.0					12																	122398590		1953	4148	6101	120882973	SO:0001587	stop_gained	144406	exon14			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.2233C>T	12.37:g.122398590C>T	ENSP00000288912:p.Arg745*		120882973	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Nonsense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	39	7.754092	0.98471	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	4.82	3.93	0.45458	.	0.859839	0.10296	N	0.691689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.154	0.59505	0.0:0.9206:0.0:0.0794	.	.	.	.	X	745	.	ENSP00000288912:R745X	R	+	1	2	WDR66	120882973	0.037000	0.19845	0.312000	0.25196	0.919000	0.55068	1.333000	0.33816	1.152000	0.42452	0.655000	0.94253	CGA		0.488	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
WDR66	144406	broad.mit.edu	37	12	122441626	122441626	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:122441626C>A	ENST00000288912.4	+	22	4260	c.3406C>A	c.(3406-3408)Ctt>Att	p.L1136I		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1136							calcium ion binding (GO:0005509)	p.L1136I(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)		GACTGAAATTCTTGGCTTAAC	0.423																																					p.L1136I	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3406A	12						.						114.0	105.0	108.0					12																	122441626		1885	4116	6001	120926009	SO:0001583	missense	144406	exon22			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.3406C>A	12.37:g.122441626C>A	ENSP00000288912:p.Leu1136Ile		120926009	NM_144668	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821630	0.90873	.	.	ENSG00000158023	ENST00000288912	T	0.08546	3.08	5.81	5.81	0.92471	.	0.079610	0.50627	D	0.000106	T	0.20618	0.0496	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.00395	-1.1766	10	0.87932	D	0	.	18.854	0.92244	0.0:1.0:0.0:0.0	.	1136	Q8TBY9	WDR66_HUMAN	I	1136	ENSP00000288912:L1136I	ENSP00000288912:L1136I	L	+	1	0	WDR66	120926009	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.906000	0.63293	2.746000	0.94184	0.655000	0.94253	CTT		0.423	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
CLIP1	6249	broad.mit.edu	37	12	122801300	122801300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:122801300C>A	ENST00000540338.1	-	18	3510	c.3469G>T	c.(3469-3471)Gaa>Taa	p.E1157*	CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E1035*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.E1146*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E1146*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E1111*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E732*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1157					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.E1146*(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)		ACTTACATTTCTTTCCTAAAT	0.274																																					p.E1111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3331T	12						.						62.0	60.0	61.0					12																	122801300		2201	4291	6492	121367253	SO:0001587	stop_gained	6249	exon17				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.3469G>T	12.37:g.122801300C>A	ENSP00000439093:p.Glu1157*		121367253	NM_198240	A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	44	10.760248	0.99462	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	.	.	.	6.03	6.03	0.97812	.	0.249872	0.42682	D	0.000676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	.	.	.	X	732;1146;1146;876;188;1111;1157	.	ENSP00000303585:E1146X	E	-	1	0	CLIP1	121367253	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.979000	0.70508	2.868000	0.98415	0.557000	0.71058	GAA		0.274	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
CLIP1	6249	broad.mit.edu	37	12	122832001	122832001	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:122832001C>T	ENST00000540338.1	-	9	1468	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000358808.2_Missense_Mutation_p.R465H|CLIP1_ENST00000302528.7_Missense_Mutation_p.R465H|CLIP1_ENST00000537178.1_Intron|CLIP1_ENST00000545889.1_Missense_Mutation_p.R166H			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	476					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.R465H(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)		CTCCTTAATGCGGGCATGCTC	0.473																																					p.R465H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1394A	12						.						153.0	134.0	140.0					12																	122832001		2203	4300	6503	121397954	SO:0001583	missense	6249	exon9				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.1427G>A	12.37:g.122832001C>T	ENSP00000439093:p.Arg476His		121397954	NM_002956	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885967	0.51908	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000540338;ENST00000540304	T;T;T;T;T	0.66638	2.57;0.5;0.5;0.56;-0.22	5.41	5.41	0.78517	.	0.057718	0.64402	D	0.000001	T	0.44932	0.1317	N	0.04880	-0.145	0.45867	D	0.998727	P;B	0.38195	0.622;0.349	B;B	0.24269	0.052;0.015	T	0.56780	-0.7922	10	0.72032	D	0.01	-7.4819	19.5669	0.95397	0.0:1.0:0.0:0.0	.	465;476	P30622-1;P30622	.;CLIP1_HUMAN	H	166;465;465;310;476;399	ENSP00000438743:R166H;ENSP00000303585:R465H;ENSP00000351665:R465H;ENSP00000439093:R476H;ENSP00000437786:R399H	ENSP00000303585:R465H	R	-	2	0	CLIP1	121397954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.674000	0.61612	2.700000	0.92200	0.650000	0.86243	CGC		0.473	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
ZCCHC8	55596	broad.mit.edu	37	12	122968028	122968028	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:122968028G>A	ENST00000336229.4	-	6	714	c.584C>T	c.(583-585)tCc>tTc	p.S195F	ZCCHC8_ENST00000536306.1_Intron|ZCCHC8_ENST00000543897.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	195					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CCATCCTTCGGAAAGCTGAGG	0.373																																					p.S195F												.	.	0			c.C584T	12						.						80.0	70.0	73.0					12																	122968028		1822	4079	5901	121533981	SO:0001583	missense	55596	exon6			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.584C>T	12.37:g.122968028G>A	ENSP00000337313:p.Ser195Phe		121533981	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	G	19.31	3.802935	0.70682	.	.	ENSG00000033030	ENST00000336229	T	0.47528	0.84	5.84	5.84	0.93424	.	0.105501	0.64402	D	0.000001	T	0.36413	0.0966	N	0.14661	0.345	0.41804	D	0.989936	B	0.33448	0.412	B	0.31614	0.133	T	0.35076	-0.9803	10	0.87932	D	0	-14.6798	20.1346	0.98019	0.0:0.0:1.0:0.0	.	195	Q6NZY4	ZCHC8_HUMAN	F	195	ENSP00000337313:S195F	ENSP00000337313:S195F	S	-	2	0	ZCCHC8	121533981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.386000	0.97228	2.763000	0.94921	0.557000	0.71058	TCC		0.373	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
ZCCHC8	55596	broad.mit.edu	37	12	122985369	122985369	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:122985369A>C	ENST00000336229.4	-	1	149	c.19T>G	c.(19-21)Ttt>Gtt	p.F7V	ZCCHC8_ENST00000536306.1_5'Flank|ZCCHC8_ENST00000543897.1_5'Flank	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	7					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F7V(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGATCGCCAAAATACACCTCT	0.592																																					p.F7V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T19G	12						.						18.0	20.0	20.0					12																	122985369		1854	4068	5922	121551322	SO:0001583	missense	55596	exon1			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.19T>G	12.37:g.122985369A>C	ENSP00000337313:p.Phe7Val		121551322	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	A	34	5.359969	0.95877	.	.	ENSG00000033030	ENST00000336229	T	0.64618	-0.11	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81134	-0.1071	10	0.87932	D	0	-8.2089	15.8261	0.78709	1.0:0.0:0.0:0.0	.	7	Q6NZY4	ZCHC8_HUMAN	V	7	ENSP00000337313:F7V	ENSP00000337313:F7V	F	-	1	0	ZCCHC8	121551322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.834000	0.86773	2.188000	0.69820	0.529000	0.55759	TTT		0.592	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
RSRC2	65117	broad.mit.edu	37	12	122990090	122990090	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:122990090C>T	ENST00000331738.7	-	10	1434	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	RSRC2_ENST00000354654.2_Missense_Mutation_p.G382E|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	430							poly(A) RNA binding (GO:0044822)	p.G430E(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TGCATCCATTCCTCGCATTGA	0.398																																					p.G430E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1289A	12						.						180.0	149.0	160.0					12																	122990090		2203	4300	6503	121556043	SO:0001583	missense	65117	exon10			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1289G>A	12.37:g.122990090C>T	ENSP00000330188:p.Gly430Glu		121556043	NM_023012	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447000	0.84101	.	.	ENSG00000111011	ENST00000331738;ENST00000354654	T;T	0.56275	0.47;0.53	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.66196	-0.5984	10	0.62326	D	0.03	.	20.6396	0.99537	0.0:1.0:0.0:0.0	.	382;430;199	Q7L4I2-2;Q7L4I2;B3KMH4	.;RSRC2_HUMAN;.	E	430;382	ENSP00000330188:G430E;ENSP00000346678:G382E	ENSP00000330188:G430E	G	-	2	0	RSRC2	121556043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.881000	0.98747	0.650000	0.86243	GGA		0.398	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012	
KNTC1	9735	broad.mit.edu	37	12	123042011	123042011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:123042011G>A	ENST00000333479.7	+	17	1530	c.1353G>A	c.(1351-1353)tgG>tgA	p.W451*	KNTC1_ENST00000450485.2_Nonsense_Mutation_p.W414*	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	451					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.W451*(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)		AGACCGAATGGCAACAACTTG	0.383																																					p.W451X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1353A	12						.						129.0	118.0	121.0					12																	123042011		1889	4126	6015	121607964	SO:0001587	stop_gained	9735	exon17				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.1353G>A	12.37:g.123042011G>A	ENSP00000328236:p.Trp451*		121607964	NM_014708	A7E2C4|B3KSG2	Nonsense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839252	0.91117	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	.	.	.	5.74	4.8	0.61643	.	0.123909	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-8.8947	14.5751	0.68240	0.0:0.0:0.7548:0.2452	.	.	.	.	X	414;451	.	ENSP00000328236:W451X	W	+	3	0	KNTC1	121607964	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	4.648000	0.61425	2.873000	0.98535	0.563000	0.77884	TGG		0.383	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
KNTC1	9735	broad.mit.edu	37	12	123052912	123052912	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:123052912G>A	ENST00000333479.7	+	21	1886	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	KNTC1_ENST00000450485.2_Missense_Mutation_p.R533Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	570					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.R570Q(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)		CTTTGGCTTCGACATCGGGTA	0.343																																					p.R570Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1709A	12						.						152.0	147.0	149.0					12																	123052912		1860	4093	5953	121618865	SO:0001583	missense	9735	exon21				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.1709G>A	12.37:g.123052912G>A	ENSP00000328236:p.Arg570Gln		121618865	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288179	0.80803	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.44881	0.91;1.28	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.68876	-0.5293	10	0.72032	D	0.01	-20.5822	19.0977	0.93260	0.0:0.0:1.0:0.0	.	533;570	E7ES84;P50748	.;KNTC1_HUMAN	Q	533;570	ENSP00000397992:R533Q;ENSP00000328236:R570Q	ENSP00000328236:R570Q	R	+	2	0	KNTC1	121618865	1.000000	0.71417	0.992000	0.48379	0.920000	0.55202	8.867000	0.92314	2.516000	0.84829	0.460000	0.39030	CGA		0.343	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
PITPNM2	57605	broad.mit.edu	37	12	123497161	123497161	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:123497161G>A	ENST00000542749.1	-	3	477	c.414C>T	c.(412-414)atC>atT	p.I138I	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Splice_Site_p.I138I|PITPNM2_ENST00000320201.4_Splice_Site_p.I138I|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Splice_Site_p.I138I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	138					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.I138I(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCTGGTTACCGATTGTCAGCT	0.512																																					p.I138I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	12						.						159.0	166.0	164.0					12																	123497161		2203	4300	6503	122063114	SO:0001630	splice_region_variant	57605	exon4			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.415+1C>T	12.37:g.123497161G>A			122063114	NM_020845	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																				0.512	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	Silent
MPHOSPH9	10198	broad.mit.edu	37	12	123641388	123641388	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:123641388T>G	ENST00000606320.1	-	24	3724	c.3518A>C	c.(3517-3519)aAa>aCa	p.K1173T	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.K1143T|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.K1021T|MPHOSPH9_ENST00000302349.5_Intron			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1173						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K1021T(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AACATGGAATTTCTTTAGCGT	0.358																																					p.K1021T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3062C	12						.						81.0	75.0	77.0					12																	123641388		2203	4300	6503	122207341	SO:0001583	missense	10198	exon20			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3518A>C	12.37:g.123641388T>G	ENSP00000475489:p.Lys1173Thr		122207341	NM_022782	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37		.	.	.	.	.	.	.	.	.	.	T	19.42	3.824980	0.71143	.	.	ENSG00000051825	ENST00000541076;ENST00000545974	T	0.39056	1.1	6.16	4.84	0.62591	.	0.060934	0.64402	D	0.000004	T	0.58352	0.2116	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.61019	-0.7147	10	0.72032	D	0.01	-14.3766	10.9694	0.47431	0.0:0.1091:0.0:0.8909	.	1021	Q99550	MPP9_HUMAN	T	1021;39	ENSP00000445859:K1021T	ENSP00000445859:K1021T	K	-	2	0	MPHOSPH9	122207341	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.721000	0.47260	2.367000	0.80283	0.528000	0.53228	AAA		0.358	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2		
GTF2H3	2967	broad.mit.edu	37	12	124144728	124144728	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:124144728T>G	ENST00000543341.2	+	13	904	c.873T>G	c.(871-873)atT>atG	p.I291M	GTF2H3_ENST00000228955.7_Missense_Mutation_p.I250M	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	291					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)	p.I291M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CCTTTAAAATTTCTCTGCCTC	0.358								Nucleotide excision repair (NER)																													p.I291M	Melanoma(176;111 2022 3038 14733 36962)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T873G	12						.						73.0	76.0	75.0					12																	124144728		2203	4300	6503	122710681	SO:0001583	missense	2967	exon13			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.873T>G	12.37:g.124144728T>G	ENSP00000445162:p.Ile291Met		122710681	NM_001516	B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	T	9.395	1.076411	0.20227	.	.	ENSG00000111358	ENST00000228955;ENST00000543341;ENST00000536375;ENST00000542231;ENST00000543154	.	.	.	5.8	0.622	0.17648	.	0.049771	0.85682	D	0.000000	T	0.22205	0.0535	N	0.13168	0.305	0.44477	D	0.997417	P	0.38788	0.647	B	0.31495	0.131	T	0.03619	-1.1019	9	0.87932	D	0	.	5.0182	0.14347	0.1374:0.3273:0.0:0.5353	.	291	Q13889	TF2H3_HUMAN	M	250;291;248;241;177	.	ENSP00000228955:I250M	I	+	3	3	GTF2H3	122710681	0.901000	0.30685	0.997000	0.53966	0.984000	0.73092	-0.053000	0.11846	-0.103000	0.12175	-0.417000	0.06048	ATT		0.358	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516	
DNAH10	196385	broad.mit.edu	37	12	124333344	124333344	+	Missense_Mutation	SNP	G	G	A	rs369904884		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:124333344G>A	ENST00000409039.3	+	33	5688	c.5663G>A	c.(5662-5664)cGa>cAa	p.R1888Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1888	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.R1888Q(1)|p.R480Q(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)		GAGTTTAATCGAATCGATGCT	0.517																																					p.R1888Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5663A	12						.	G	GLN/ARG	1,4287		0,1,2143	121.0	123.0	122.0		5663	5.8	0.8	12		122	0,8540		0,0,4270	no	missense	DNAH10	NM_207437.3	43	0,1,6413	AA,AG,GG		0.0,0.0233,0.0078	probably-damaging	1888/4472	124333344	1,12827	2144	4270	6414	122899297	SO:0001583	missense	196385	exon33			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.5663G>A	12.37:g.124333344G>A	ENSP00000386770:p.Arg1888Gln		122899297	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885812	0.91814	2.33E-4	0.0	ENSG00000197653	ENST00000409039	T	0.14516	2.5	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.084915	0.49305	U	0.000143	T	0.52773	0.1755	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65109	-0.6248	10	0.87932	D	0	.	20.1386	0.98045	0.0:0.0:1.0:0.0	.	1888	Q8IVF4	DYH10_HUMAN	Q	1888	ENSP00000386770:R1888Q	ENSP00000386770:R1888Q	R	+	2	0	DNAH10	122899297	1.000000	0.71417	0.805000	0.32314	0.288000	0.27193	9.869000	0.99810	2.767000	0.95098	0.561000	0.74099	CGA		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124349227	124349227	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:124349227G>A	ENST00000409039.3	+	39	6665	c.6640G>A	c.(6640-6642)Gcc>Acc	p.A2214T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2214	AAA 2. {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.A2214T(1)|p.A806T(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)		GTTGACATTGGCCAACGGGGA	0.413																																					p.A2214T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6640A	12						.						122.0	121.0	121.0					12																	124349227		2034	4192	6226	122915180	SO:0001583	missense	196385	exon39			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.6640G>A	12.37:g.124349227G>A	ENSP00000386770:p.Ala2214Thr		122915180	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754023	0.89843	.	.	ENSG00000197653	ENST00000409039	T	0.55234	0.53	5.46	5.46	0.80206	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	U	0.000001	T	0.70570	0.3239	M	0.63428	1.95	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.68996	-0.5262	10	0.42905	T	0.14	.	19.3147	0.94207	0.0:0.0:1.0:0.0	.	2214	Q8IVF4	DYH10_HUMAN	T	2214	ENSP00000386770:A2214T	ENSP00000386770:A2214T	A	+	1	0	DNAH10	122915180	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	9.869000	0.99810	2.559000	0.86315	0.563000	0.77884	GCC		0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:124359953C>T	ENST00000409039.3	+	46	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2587	AAA 3. {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.S1179L(1)|p.S2587L(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)		AGATTTATTTCGCTATTCAGT	0.443																																					p.S2587L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7760T	12						.						128.0	119.0	122.0					12																	124359953		1905	4130	6035	122925906	SO:0001583	missense	196385	exon46			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.7760C>T	12.37:g.124359953C>T	ENSP00000386770:p.Ser2587Leu		122925906	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894009	0.72639	.	.	ENSG00000197653	ENST00000409039	T	0.46819	0.86	5.41	5.41	0.78517	ATPase, AAA+ type, core (1);	0.000000	0.64402	U	0.000010	T	0.80121	0.4565	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86066	0.1535	10	0.72032	D	0.01	.	19.6104	0.95604	0.0:1.0:0.0:0.0	.	2587	Q8IVF4	DYH10_HUMAN	L	2587	ENSP00000386770:S2587L	ENSP00000386770:S2587L	S	+	2	0	DNAH10	122925906	1.000000	0.71417	0.081000	0.20488	0.160000	0.22226	7.644000	0.83416	2.702000	0.92279	0.558000	0.71614	TCG		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124414243	124414243	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:124414243G>A	ENST00000409039.3	+	71	12220	c.12195G>A	c.(12193-12195)acG>acA	p.T4065T	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4065					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.T2657T(1)|p.T4065T(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)		CGTACTTAACGAAAGCCTTCC	0.507																																					p.T4065T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G12195A	12						.						47.0	45.0	46.0					12																	124414243		1888	4113	6001	122980196	SO:0001819	synonymous_variant	196385	exon71			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.12195G>A	12.37:g.124414243G>A			122980196	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
CREBL2	1389	broad.mit.edu	37	12	12790516	12790516	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:12790516T>C	ENST00000228865.2	+	3	507	c.226T>C	c.(226-228)Tgc>Cgc	p.C76R		NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	76	bZIP.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C76R(1)		large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		CAAGCAGTGGTGCATGGCAAT	0.348																																					p.C76R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T226C	12						.						51.0	43.0	46.0					12																	12790516		2203	4300	6503	12681783	SO:0001583	missense	1389	exon3			AF039081	CCDS8651.1	12p13.2	2013-01-10			ENSG00000111269	ENSG00000111269		"""basic leucine zipper proteins"""	2350	protein-coding gene	gene with protein product		603476				9693048	Standard	NM_001310		Approved		uc001rap.1	O60519	OTTHUMG00000168704	ENST00000228865.2:c.226T>C	12.37:g.12790516T>C	ENSP00000228865:p.Cys76Arg		12681783	NM_001310	B5BUM5	Missense_Mutation	SNP	ENST00000228865.2	37	CCDS8651.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372203	0.82573	.	.	ENSG00000111269	ENST00000228865	D	0.89746	-2.56	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.89690	0.3897	9	.	.	.	-13.4807	16.5446	0.84426	0.0:0.0:0.0:1.0	.	76	O60519	CRBL2_HUMAN	R	76	ENSP00000228865:C76R	.	C	+	1	0	CREBL2	12681783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.617000	0.83032	2.311000	0.77944	0.533000	0.62120	TGC		0.348	CREBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400660.1	NM_001310	
AACS	65985	broad.mit.edu	37	12	125558467	125558467	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:125558467A>G	ENST00000316519.6	+	2	385	c.179A>G	c.(178-180)gAc>gGc	p.D60G	AACS_ENST00000261686.6_Missense_Mutation_p.D60G	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	60					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.D60G(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCATATTCAGACTTCTGGGCA	0.388																																					p.D60G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A179G	12						.						178.0	165.0	170.0					12																	125558467		2203	4300	6503	124124420	SO:0001583	missense	65985	exon2			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.179A>G	12.37:g.125558467A>G	ENSP00000324842:p.Asp60Gly		124124420	NM_023928	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964886	0.34659	.	.	ENSG00000081760	ENST00000316519;ENST00000536752;ENST00000261686	T;T;T	0.10192	2.9;2.9;2.9	4.56	4.56	0.56223	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.131998	0.56097	D	0.000029	T	0.18800	0.0451	L	0.46157	1.445	0.53688	D	0.999975	P;D	0.53462	0.95;0.96	P;P	0.57244	0.72;0.816	T	0.05007	-1.0912	10	0.15066	T	0.55	.	13.1938	0.59726	1.0:0.0:0.0:0.0	.	60;60	Q86V21-2;Q86V21	.;AACS_HUMAN	G	60	ENSP00000324842:D60G;ENSP00000442691:D60G;ENSP00000261686:D60G	ENSP00000261686:D60G	D	+	2	0	AACS	124124420	1.000000	0.71417	0.989000	0.46669	0.870000	0.49936	7.793000	0.85851	1.826000	0.53198	0.402000	0.26972	GAC		0.388	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
TMEM132D	121256	broad.mit.edu	37	12	129558505	129558505	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:129558505T>C	ENST00000422113.2	-	9	3541	c.3215A>G	c.(3214-3216)gAc>gGc	p.D1072G	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D610G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1072					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.D1072G(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)		CCACTTAATGTCATCCTCGCT	0.502																																					p.D1072G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3215G	12						.						187.0	173.0	178.0					12																	129558505		2203	4300	6503	128124458	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.3215A>G	12.37:g.129558505T>C	ENSP00000408581:p.Asp1072Gly		128124458	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374884	0.61735	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.19105	2.17;2.85	4.44	1.97	0.26223	.	0.177232	0.37261	N	0.002162	T	0.41673	0.1169	M	0.84948	2.725	0.20196	N	0.999924	P;D	0.57571	0.51;0.98	B;P	0.57324	0.107;0.818	T	0.33854	-0.9852	9	.	.	.	-13.576	11.0798	0.48053	0.0:0.0:0.3161:0.6839	.	1072;610	Q14C87;Q14C87-2	T132D_HUMAN;.	G	610;1072	ENSP00000374092:D610G;ENSP00000408581:D1072G	.	D	-	2	0	TMEM132D	128124458	1.000000	0.71417	0.000000	0.03702	0.245000	0.25701	2.413000	0.44618	0.175000	0.19841	0.460000	0.39030	GAC		0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
FZD10	11211	broad.mit.edu	37	12	130648839	130648839	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:130648839A>G	ENST00000229030.4	+	1	1836	c.1352A>G	c.(1351-1353)tAc>tGc	p.Y451C	FZD10_ENST00000539839.1_Silent_p.V418V|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	451					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Y451C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCTGTGCTGTACACCGTGCCG	0.572																																					p.Y451C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1352G	12						.						154.0	148.0	150.0					12																	130648839		2203	4300	6503	129214792	SO:0001583	missense	11211	exon1			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1352A>G	12.37:g.130648839A>G	ENSP00000229030:p.Tyr451Cys		129214792	NM_007197		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528081	0.64860	.	.	ENSG00000111432	ENST00000229030	D	0.83591	-1.74	5.1	5.1	0.69264	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000001	D	0.93815	0.8022	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95657	0.8712	10	0.87932	D	0	.	14.8734	0.70478	1.0:0.0:0.0:0.0	.	451	Q9ULW2	FZD10_HUMAN	C	451	ENSP00000229030:Y451C	ENSP00000229030:Y451C	Y	+	2	0	FZD10	129214792	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.122000	0.94380	1.911000	0.55334	0.459000	0.35465	TAC		0.572	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
RIMBP2	23504	broad.mit.edu	37	12	130890723	130890723	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:130890723A>C	ENST00000261655.4	-	17	3154	c.2991T>G	c.(2989-2991)ttT>ttG	p.F997L		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	997	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F997L(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)		TTACATAATAAAATCCATCTT	0.279																																					p.F997L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2991G	12						.						51.0	54.0	53.0					12																	130890723		2203	4295	6498	129456676	SO:0001583	missense	23504	exon17			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.2991T>G	12.37:g.130890723A>C	ENSP00000261655:p.Phe997Leu		129456676	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147436	0.77888	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.51817	0.69;0.69	5.26	1.6	0.23607	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.85710	2.77	0.80722	D	1	D	0.65815	0.995	D	0.80764	0.994	T	0.66775	-0.5838	10	0.87932	D	0	-6.5241	9.0594	0.36425	0.7903:0.0:0.2097:0.0	.	997	O15034	RIMB2_HUMAN	L	997;134	ENSP00000261655:F997L;ENSP00000439030:F134L	ENSP00000261655:F997L	F	-	3	2	RIMBP2	129456676	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.187000	0.50950	0.090000	0.17273	0.460000	0.39030	TTT		0.279	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GPR133	283383	broad.mit.edu	37	12	131487757	131487757	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:131487757G>A	ENST00000261654.5	+	10	1613	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	GPR133_ENST00000535015.1_Missense_Mutation_p.D384N|GPR133_ENST00000376682.4_Missense_Mutation_p.D38N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	352					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.D352N(1)		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)		GAGTCTCATCGACACTATTGA	0.617																																					p.D352N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1054A	12						.						202.0	165.0	178.0					12																	131487757		2203	4300	6503	130053710	SO:0001583	missense	283383	exon10			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.1054G>A	12.37:g.131487757G>A	ENSP00000261654:p.Asp352Asn		130053710	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	3.392	-0.124086	0.06795	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.44083	0.98;0.97;0.93	4.88	-0.152	0.13407	.	1.093450	0.06837	N	0.795057	T	0.28532	0.0706	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.22556	-1.0213	10	0.37606	T	0.19	.	6.5117	0.22226	0.2309:0.244:0.5251:0.0	.	384;352	B7ZLF7;Q6QNK2	.;GP133_HUMAN	N	352;384;43;48;38	ENSP00000261654:D352N;ENSP00000444425:D384N;ENSP00000365872:D38N	ENSP00000261654:D352N	D	+	1	0	GPR133	130053710	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.060000	0.11712	-0.537000	0.06290	-4.026000	0.00013	GAC		0.617	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
GPR133	283383	broad.mit.edu	37	12	131593323	131593323	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:131593323G>A	ENST00000261654.5	+	18	2501	c.1942G>A	c.(1942-1944)Gca>Aca	p.A648T	GPR133_ENST00000535015.1_Missense_Mutation_p.A680T|GPR133_ENST00000376682.4_Missense_Mutation_p.A334T|GPR133_ENST00000543617.1_Missense_Mutation_p.A167T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	648					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.A648T(1)		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)		GAGTGCCTTCGCATGGATGCT	0.567																																					p.A648T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1942A	12						.						216.0	199.0	205.0					12																	131593323		2203	4300	6503	130159276	SO:0001583	missense	283383	exon18			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.1942G>A	12.37:g.131593323G>A	ENSP00000261654:p.Ala648Thr		130159276	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470098	0.43839	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.43294	1.18;0.95;1.18;1.18	4.91	4.91	0.64330	GPCR, family 2-like (1);	0.053328	0.85682	D	0.000000	T	0.30541	0.0768	N	0.21324	0.655	0.58432	D	0.999999	P;B;B	0.37594	0.601;0.174;0.345	B;B;B	0.35278	0.199;0.064;0.149	T	0.07481	-1.0770	10	0.26408	T	0.33	.	17.0749	0.86583	0.0:0.0:1.0:0.0	.	680;167;648	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	T	648;680;334;167	ENSP00000261654:A648T;ENSP00000444425:A680T;ENSP00000365872:A334T;ENSP00000438021:A167T	ENSP00000261654:A648T	A	+	1	0	GPR133	130159276	1.000000	0.71417	0.990000	0.47175	0.918000	0.54935	3.289000	0.51747	2.258000	0.74832	0.655000	0.94253	GCA		0.567	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
SFSWAP	6433	broad.mit.edu	37	12	132240012	132240012	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:132240012C>T	ENST00000261674.4	+	10	1677	c.1536C>T	c.(1534-1536)ggC>ggT	p.G512G	SFSWAP_ENST00000541286.1_Silent_p.G512G|RP11-495K9.5_ENST00000537032.1_lincRNA	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	512			G -> S (in dbSNP:rs34541796).		mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.G512G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAGAAGGGGGCGATAGCATGC	0.478											OREG0022261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G512G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1536T	12						.						82.0	80.0	81.0					12																	132240012		2203	4300	6503	130805965	SO:0001819	synonymous_variant	6433	exon10			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1536C>T	12.37:g.132240012C>T		1593	130805965	NM_004592	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	5.424	0.263448	0.10294	.	.	ENSG00000061936	ENST00000537164	.	.	.	5.38	-1.28	0.09318	.	.	.	.	.	T	0.21186	0.0510	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	-12.0835	3.1917	0.06619	0.1081:0.3372:0.1061:0.4486	.	.	.	.	V	152	.	.	A	+	2	0	SFSWAP	130805965	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-2.164000	0.01275	-0.611000	0.05709	-0.224000	0.12420	GCG		0.478	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592	
EP400	57634	broad.mit.edu	37	12	132490710	132490710	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:132490710G>A	ENST00000333577.4	+	15	3206	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N	EP400_ENST00000332482.4_Missense_Mutation_p.D960N|EP400_ENST00000389561.2_Missense_Mutation_p.D997N|EP400_ENST00000389562.2_Missense_Mutation_p.D996N|EP400_ENST00000330386.6_Missense_Mutation_p.D997N			Q96L91	EP400_HUMAN	E1A binding protein p400	1033	Interactions with RUVBL1 and RUVBL2.				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.D996N(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)		GGTTCTCATCGACTCGCTTTT	0.517																																					p.D996N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2986A	12						.						90.0	86.0	87.0					12																	132490710		2203	4300	6503	131056663	SO:0001583	missense	57634	exon14			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.3097G>A	12.37:g.132490710G>A	ENSP00000333602:p.Asp1033Asn		131056663	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	14.66	2.600773	0.46423	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90732	-2.72;-2.7;-2.7;-2.7;-2.69	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.68952	2.095	0.48830	D	0.999718	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.917;0.966	D	0.92873	0.6316	10	0.31617	T	0.26	.	19.0592	0.93080	0.0:0.0:1.0:0.0	.	997;997;996	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	N	1033;997;996;960;997;997;997	ENSP00000333602:D1033N;ENSP00000374212:D997N;ENSP00000374213:D996N;ENSP00000331737:D960N;ENSP00000330620:D997N	ENSP00000330620:D997N	D	+	1	0	EP400	131056663	1.000000	0.71417	0.485000	0.27403	0.333000	0.28666	8.872000	0.92352	2.605000	0.88082	0.655000	0.94253	GAC		0.517	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
EP400	57634	broad.mit.edu	37	12	132522524	132522524	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:132522524T>G	ENST00000333577.4	+	33	6307	c.6198T>G	c.(6196-6198)gtT>gtG	p.V2066V	EP400_ENST00000332482.4_Silent_p.V1993V|EP400_ENST00000389561.2_Silent_p.V2030V|EP400_ENST00000389562.2_Silent_p.V2029V|EP400_ENST00000330386.6_Silent_p.V1949V			Q96L91	EP400_HUMAN	E1A binding protein p400	2066					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.V2029V(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)		TGTTTGAAGTTTATTCTCCCA	0.498																																					p.V2029V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6087G	12						.						234.0	212.0	220.0					12																	132522524		2203	4300	6503	131088477	SO:0001819	synonymous_variant	57634	exon32			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.6198T>G	12.37:g.132522524T>G			131088477	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.498	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
GSG1	83445	broad.mit.edu	37	12	13240110	13240110	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:13240110A>G	ENST00000432710.2	-	5	785	c.653T>C	c.(652-654)gTt>gCt	p.V218A	GSG1_ENST00000457134.2_Missense_Mutation_p.V154A|GSG1_ENST00000337630.6_Missense_Mutation_p.V205A|GSG1_ENST00000351606.6_Silent_p.C282C|GSG1_ENST00000396310.2_Missense_Mutation_p.V174A|GSG1_ENST00000396302.3_Silent_p.C246C|GSG1_ENST00000324458.8_Missense_Mutation_p.V241A|GSG1_ENST00000537302.1_Missense_Mutation_p.V177A	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	228						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.C246C(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATAATTCCAAACATGTGGTCT	0.502																																					p.V205A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T614C	12						.						123.0	104.0	110.0					12																	13240110		2203	4300	6503	13131377	SO:0001583	missense	83445	exon5			BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.653T>C	12.37:g.13240110A>G	ENSP00000405032:p.Val218Ala		13131377	NM_153823	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	A	9.735	1.163279	0.21538	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000457134;ENST00000432710;ENST00000537302	T;T;T;T;T;T	0.28666	1.63;1.62;1.64;1.6;1.62;1.64	5.2	2.11	0.27256	.	0.611588	0.16433	N	0.214637	T	0.06826	0.0174	N	0.00368	-1.59	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	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.35748	-0.9776	10	0.18276	T	0.48	.	5.8921	0.18919	0.0762:0.1366:0.6458:0.1413	.	218;228;154;177;205	Q2KHT4-6;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A1	.;GSG1_HUMAN;.;.;.	A	205;241;174;154;218;177	ENSP00000336816:V205A;ENSP00000320838:V241A;ENSP00000379604:V174A;ENSP00000398384:V154A;ENSP00000405032:V218A;ENSP00000441718:V177A	ENSP00000320838:V241A	V	-	2	0	GSG1	13131377	0.776000	0.28616	0.524000	0.27887	0.682000	0.39822	1.050000	0.30404	0.541000	0.28827	-0.375000	0.07067	GTT		0.502	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289	
EP400	57634	broad.mit.edu	37	12	132537749	132537749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:132537749C>T	ENST00000333577.4	+	43	7670	c.7561C>T	c.(7561-7563)Cga>Tga	p.R2521*	EP400_ENST00000332482.4_Nonsense_Mutation_p.R2448*|EP400_ENST00000389561.2_Nonsense_Mutation_p.R2485*|EP400_ENST00000389562.2_Nonsense_Mutation_p.R2484*|EP400_ENST00000330386.6_Nonsense_Mutation_p.R2404*			Q96L91	EP400_HUMAN	E1A binding protein p400	2521					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.R2484*(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)		CCGTGCAGAGCGAATCGCAAA	0.517																																					p.R2484X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7450T	12						.						147.0	143.0	144.0					12																	132537749		2203	4300	6503	131103702	SO:0001587	stop_gained	57634	exon42			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.7561C>T	12.37:g.132537749C>T	ENSP00000333602:p.Arg2521*		131103702	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	49	15.602038	0.99839	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.12	4.22	0.49857	.	0.058507	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9407	0.64052	0.0:0.9254:0.0:0.0746	.	.	.	.	X	2521;2485;2484;2448;2404;2485	.	ENSP00000330620:R2404X	R	+	1	2	EP400	131103702	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	4.634000	0.61325	1.133000	0.42147	0.491000	0.48974	CGA		0.517	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
POLE	5426	broad.mit.edu	37	12	133250289	133250289	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	
CHFR	55743	broad.mit.edu	37	12	133438140	133438140	+	Missense_Mutation	SNP	G	G	A	rs35206714		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:133438140G>A	ENST00000432561.2	-	7	773	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.L222F|CHFR_ENST00000315585.7_Missense_Mutation_p.L193F|CHFR_ENST00000266880.7_Missense_Mutation_p.L234F|CHFR_ENST00000443047.2_Missense_Mutation_p.L142F			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	234					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L193F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTGTCTGGGAGAGCTGAGGCA	0.527																																					p.L193F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577T	12						.						148.0	133.0	138.0					12																	133438140		2203	4300	6503	131948213	SO:0001583	missense	55743	exon7			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.700C>T	12.37:g.133438140G>A	ENSP00000392395:p.Leu234Phe		131948213	NM_018223	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	G	3.626	-0.076613	0.07184	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561;ENST00000541817;ENST00000540963	T;T;T;T;T	0.18657	2.47;2.22;2.46;2.2;2.46	5.49	0.337	0.15966	.	1.006810	0.07964	N	0.982898	T	0.08802	0.0218	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B	0.14805	0.002;0.011;0.006;0.002;0.011	B;B;B;B;B	0.16289	0.005;0.015;0.007;0.009;0.015	T	0.39722	-0.9600	10	0.14252	T	0.57	-17.1553	2.2361	0.04009	0.2264:0.3658:0.2827:0.1251	rs35206714	142;234;234;222;193	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	F	193;142;222;234;34;234;94;222	ENSP00000320557:L193F;ENSP00000416431:L142F;ENSP00000398735:L222F;ENSP00000266880:L234F;ENSP00000392395:L234F	ENSP00000266880:L234F	L	-	1	0	CHFR	131948213	0.008000	0.16893	0.003000	0.11579	0.003000	0.03518	0.307000	0.19296	-0.226000	0.09899	-0.235000	0.12190	CTC		0.527	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2		
ZNF26	7574	broad.mit.edu	37	12	133587333	133587333	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:133587333G>A	ENST00000328654.5	+	4	1245	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	ZNF26_ENST00000534834.1_Missense_Mutation_p.E270K	NM_019591.3	NP_062537.2	P17031	ZNF26_HUMAN	zinc finger protein 26	290					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.E290K(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)		TGAATGCAGCGAATGTGGGAA	0.453																																					p.E290K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	12						.						0.0	1.0	1.0					12																	133587333		0	2	2	132097406	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.868G>A	12.37:g.133587333G>A	ENSP00000333725:p.Glu290Lys		132097406	NM_019591	Q86X57|Q9NWL3	Missense_Mutation	SNP	ENST00000328654.5	37	CCDS31939.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162295	0.57368	.	.	ENSG00000198393	ENST00000328654;ENST00000534834	T;T	0.35605	1.3;1.3	3.97	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32488	N	0.006028	T	0.26122	0.0637	L	0.38692	1.165	0.09310	N	1	B	0.16603	0.018	B	0.12837	0.008	T	0.15093	-1.0449	9	.	.	.	.	10.617	0.45456	0.0987:0.0:0.9013:0.0	.	290	P17031	ZNF26_HUMAN	K	290;270	ENSP00000333725:E290K;ENSP00000437420:E270K	.	E	+	1	0	ZNF26	132097406	0.117000	0.22190	0.306000	0.25113	0.971000	0.66376	2.466000	0.45084	0.995000	0.38917	0.460000	0.39030	GAA		0.453	ZNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397145.2	NM_019591	
SLC6A12	6539	broad.mit.edu	37	12	304440	304440	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:304440G>A	ENST00000428720.1	-	13	2123	c.1380C>T	c.(1378-1380)tgC>tgT	p.C460C	SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000536824.1_Silent_p.C460C|SLC6A12_ENST00000424061.2_Silent_p.C460C|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000397296.2_Silent_p.C460C|SLC6A12_ENST00000359674.4_Silent_p.C460C	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	460					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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:sodium symporter activity (GO:0005328)	p.C460C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAACAGCAGGCATATGCCAC	0.562																																					p.C460C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1380T	12						.						261.0	216.0	231.0					12																	304440		2203	4300	6503	174701	SO:0001819	synonymous_variant	6539	exon13			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1380C>T	12.37:g.304440G>A			174701	NM_001122847	A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	CCDS8501.1																																																																																				0.562	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044	
KDM5A	5927	broad.mit.edu	37	12	402279	402279	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:402279C>T	ENST00000399788.2	-	27	4874	c.4512G>A	c.(4510-4512)aaG>aaA	p.K1504K	KDM5A_ENST00000382815.4_Silent_p.K1504K|KDM5A_ENST00000540838.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1504	Lys-rich.				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.K1509K(1)|p.K1504K(1)		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						GTTTCCGTTTCTTCTCTGAAG	0.353			T	NUP98	AML																																p.K1504K			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4512A	12						.						83.0	77.0	79.0					12																	402279		1843	4076	5919	272540	SO:0001819	synonymous_variant	5927	exon27				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.4512G>A	12.37:g.402279C>T			272540	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	CCDS41736.1																																																																																				0.353	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
KDM5A	5927	broad.mit.edu	37	12	493230	493230	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:493230C>T	ENST00000399788.2	-	3	695	c.333G>A	c.(331-333)gaG>gaA	p.E111E	KDM5A_ENST00000382815.4_Silent_p.E111E	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	111	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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.E111E(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						GGATTTTTCTCTCTACCACAG	0.383			T	NUP98	AML																																p.E111E			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G333A	12						.						138.0	135.0	136.0					12																	493230		1826	4086	5912	363491	SO:0001819	synonymous_variant	5927	exon3				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.333G>A	12.37:g.493230C>T			363491	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	CCDS41736.1																																																																																				0.383	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
CACNA2D4	93589	broad.mit.edu	37	12	1995404	1995404	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:1995404G>A	ENST00000382722.5	-	8	1340	c.978C>T	c.(976-978)ttC>ttT	p.F326F	CACNA2D4_ENST00000588077.1_Silent_p.F262F|CACNA2D4_ENST00000585708.1_Silent_p.F262F|CACNA2D4_ENST00000586184.1_Silent_p.F326F|CACNA2D4_ENST00000587995.1_Silent_p.F326F|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	326	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F326F(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGATATTAATGAAGTCATTCT	0.488																																					p.F326F	Colon(2;101 179 21030 23310 28141)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C978T	12						.						148.0	151.0	150.0					12																	1995404		2086	4208	6294	1865665	SO:0001819	synonymous_variant	93589	exon8			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.978C>T	12.37:g.1995404G>A			1865665	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	CCDS44785.1																																																																																				0.488	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
CACNA1C	775	broad.mit.edu	37	12	2558185	2558185	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:2558185C>T	ENST00000347598.4	+	4	521	c.521C>T	c.(520-522)gCg>gTg	p.A174V	CACNA1C_ENST00000399629.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A174V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A174V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A174V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A174V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A174V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A174V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A174V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	174					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.A174V(1)|p.A204V(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)	ACGGTGGAAGCGTTTTTAAAA	0.398																																					p.A174V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C521T	12						.						91.0	84.0	86.0					12																	2558185		1831	4074	5905	2428446	SO:0001583	missense	775	exon4			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.521C>T	12.37:g.2558185C>T	ENSP00000266376:p.Ala174Val		2428446	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	23.5	4.429283	0.83776	.	.	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	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.86	4.86	0.63082	Ion transport (1);	0.059872	0.64402	D	0.000003	D	0.98248	0.9420	M	0.75264	2.295	0.80722	D	1	D;P;P;D;D;P;D;P;P;D;D;P;P;D;P;D;D;D;D;D	0.89917	0.964;0.801;0.679;0.983;0.99;0.954;0.983;0.882;0.589;0.983;0.991;0.782;0.886;0.983;0.95;0.991;0.983;0.983;1.0;1.0	B;B;B;B;P;B;P;B;B;B;B;B;P;P;B;B;P;P;D;D	0.76071	0.225;0.131;0.311;0.31;0.563;0.173;0.563;0.22;0.22;0.31;0.404;0.237;0.497;0.563;0.3;0.404;0.563;0.563;0.987;0.987	D	0.99104	1.0844	10	0.66056	D	0.02	.	18.2498	0.89998	0.0:1.0:0.0:0.0	.	174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;174;15	ENSP00000336982:A174V;ENSP00000382563:A174V;ENSP00000437936:A174V;ENSP00000382552:A174V;ENSP00000382547:A174V;ENSP00000382506:A174V;ENSP00000382530:A174V;ENSP00000382546:A174V;ENSP00000382500:A174V;ENSP00000382549:A174V;ENSP00000266376:A174V;ENSP00000382515:A174V;ENSP00000382510:A174V;ENSP00000341092:A174V;ENSP00000382537:A174V;ENSP00000329877:A174V;ENSP00000382557:A174V;ENSP00000385724:A174V;ENSP00000382512:A174V;ENSP00000382542:A174V;ENSP00000382526:A174V;ENSP00000385896:A174V;ENSP00000382504:A174V	ENSP00000323129:A15V	A	+	2	0	CACNA1C	2428446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.565000	0.60836	2.540000	0.85666	0.638000	0.83543	GCG		0.398	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
PARP11	57097	broad.mit.edu	37	12	3931093	3931093	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:3931093C>T	ENST00000228820.4	-	6	638	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	PARP11_ENST00000427057.2_Missense_Mutation_p.R84Q|PARP11_ENST00000397096.2_Missense_Mutation_p.R158Q|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000447133.3_Missense_Mutation_p.R84Q	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	158	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R158Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTTTAATTCGGTTGCGATC	0.348																																					p.R165Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494A	12						.						75.0	81.0	79.0					12																	3931093		2203	4300	6503	3801354	SO:0001583	missense	57097	exon6			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.494G>A	12.37:g.3931093C>T	ENSP00000228820:p.Arg165Gln		3801354	NM_020367	B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797256	0.50208	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.3	5.3	0.74995	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.130645	0.53938	D	0.000050	T	0.10852	0.0265	L	0.31664	0.95	0.40591	D	0.981489	B;B;B	0.23854	0.092;0.017;0.022	B;B;B	0.15484	0.013;0.004;0.004	T	0.15925	-1.0420	10	0.13470	T	0.59	.	16.4978	0.84250	0.0:1.0:0.0:0.0	.	84;165;158	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	Q	158;84;165;84	ENSP00000380284:R158Q;ENSP00000397058:R84Q;ENSP00000228820:R165Q;ENSP00000405385:R84Q	ENSP00000228820:R165Q	R	-	2	0	PARP11	3801354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.943000	0.49026	2.750000	0.94351	0.650000	0.86243	CGA		0.348	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1		
PARP11	57097	broad.mit.edu	37	12	3939061	3939061	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:3939061A>G	ENST00000228820.4	-	2	286	c.142T>C	c.(142-144)Ttt>Ctt	p.F48L	PARP11_ENST00000427057.2_Missense_Mutation_p.V7A|PARP11_ENST00000397096.2_Missense_Mutation_p.F41L|PARP11_ENST00000447133.3_Missense_Mutation_p.V7A	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	41	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.F41L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTACCTGAAACATGTGCCAC	0.378																																					p.F48L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T142C	12						.						173.0	158.0	163.0					12																	3939061		2203	4300	6503	3809322	SO:0001583	missense	57097	exon2			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.142T>C	12.37:g.3939061A>G	ENSP00000228820:p.Phe48Leu		3809322	NM_020367	B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	CCDS8523.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.508766|4.508766	0.85282|0.85282	.|.	.|.	ENSG00000111224|ENSG00000111224	ENST00000397096;ENST00000228820|ENST00000427057;ENST00000447133	T;T|T;T	0.37915|0.18174	1.17;1.17|2.23;2.23	5.52|5.52	4.35|4.35	0.52113|0.52113	WWE domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.19644|0.19644	0.0472|0.0472	L|L	0.60455|0.60455	1.87|1.87	0.24104|0.24104	N|N	0.995868|0.995868	B;D|P	0.69078|0.41450	0.395;0.997|0.75	B;D|B	0.80764|0.39562	0.221;0.994|0.303	T|T	0.10245|0.10245	-1.0638|-1.0638	10|9	0.46703|0.72032	T|D	0.11|0.01	.|.	10.0173|10.0173	0.42022|0.42022	0.8489:0.0:0.0:0.1511|0.8489:0.0:0.0:0.1511	.|.	48;41|7	Q9NR21-4;Q9NR21|Q9NR21-2	.;PAR11_HUMAN|.	L|A	41;48|7	ENSP00000380284:F41L;ENSP00000228820:F48L|ENSP00000397058:V7A;ENSP00000405385:V7A	ENSP00000228820:F48L|ENSP00000397058:V7A	F|V	-|-	1|2	0|0	PARP11|PARP11	3809322|3809322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	6.423000|6.423000	0.73361|0.73361	1.068000|1.068000	0.40764|0.40764	0.460000|0.460000	0.39030|0.39030	TTT|GTT		0.378	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1		
FGF6	2251	broad.mit.edu	37	12	4554549	4554549	+	Missense_Mutation	SNP	G	G	A	rs17183529	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:4554549G>A	ENST00000228837.2	-	1	231	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	63			A -> V (in dbSNP:rs17183529). {ECO:0000269|Ref.2}.		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.A63V(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)			AGCTAGCCCGGCGCGAGACCT	0.642													G|||	21	0.00419329	0.0159	0.0	5008	,	,		17319	0.0		0.0	False		,,,				2504	0.0				p.A63V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C188T	12						.	G	VAL/ALA	57,4349	51.6+/-87.1	0,57,2146	88.0	83.0	85.0		188	4.1	0.0	12	dbSNP_123	85	0,8600		0,0,4300	no	missense	FGF6	NM_020996.1	64	0,57,6446	AA,AG,GG		0.0,1.2937,0.4383	benign	63/209	4554549	57,12949	2203	4300	6503	4424810	SO:0001583	missense	2251	exon1			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.188C>T	12.37:g.4554549G>A	ENSP00000228837:p.Ala63Val		4424810	NM_020996	Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	10.67	1.415816	0.25552	0.012937	0.0	ENSG00000111241	ENST00000228837	T	0.26810	1.71	5.0	4.09	0.47781	.	0.553031	0.20578	N	0.089588	T	0.18257	0.0438	L	0.49126	1.545	0.09310	N	0.999998	B	0.30146	0.27	B	0.34991	0.193	T	0.12578	-1.0542	10	0.36615	T	0.2	.	9.216	0.37348	0.0768:0.1473:0.7759:0.0	rs17183529	63	P10767	FGF6_HUMAN	V	63	ENSP00000228837:A63V	ENSP00000228837:A63V	A	-	2	0	FGF6	4424810	0.756000	0.28383	0.004000	0.12327	0.229000	0.25112	3.566000	0.53805	1.215000	0.43411	0.561000	0.74099	GCC		0.642	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996	
C12orf4	57102	broad.mit.edu	37	12	4643373	4643373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:4643373C>A	ENST00000261250.3	-	3	361	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E92*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	92								p.E92*(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		AAATCTACTTCACCTGATTTC	0.403																																					p.E92X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G274T	12						.						91.0	85.0	87.0					12																	4643373		2203	4300	6503	4513634	SO:0001587	stop_gained	57102	exon3			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.274G>T	12.37:g.4643373C>A	ENSP00000261250:p.Glu92*		4513634	NM_020374	D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	ENST00000261250.3	37	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003920	0.93287	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.72	4.78	0.61160	.	0.209241	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	9.8786	0.41220	0.0:0.7851:0.1396:0.0753	.	.	.	.	X	92;92;45	.	ENSP00000261250:E92X	E	-	1	0	C12orf4	4513634	1.000000	0.71417	0.989000	0.46669	0.930000	0.56654	2.714000	0.47202	2.700000	0.92200	0.591000	0.81541	GAA		0.403	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374	
KCNA6	3742	broad.mit.edu	37	12	4919789	4919789	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:4919789G>A	ENST00000280684.3	+	1	1448	c.582G>A	c.(580-582)gaG>gaA	p.E194E	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.E194E			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	194					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.E194E(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TTTGCCTGGAGACCTTACCCC	0.567										HNSCC(72;0.22)																											p.E194E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G582A	12						.						75.0	66.0	69.0					12																	4919789		2203	4300	6503	4790050	SO:0001819	synonymous_variant	3742	exon1			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.582G>A	12.37:g.4919789G>A			4790050	NM_002235		Silent	SNP	ENST00000280684.3	37	CCDS8534.1																																																																																				0.567	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235	
ANO2	57101	broad.mit.edu	37	12	5722101	5722101	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:5722101T>C	ENST00000356134.5	-	20	2026	c.1955A>G	c.(1954-1956)tAc>tGc	p.Y652C	ANO2_ENST00000546188.1_Missense_Mutation_p.Y652C|ANO2_ENST00000327087.8_Missense_Mutation_p.Y651C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	656					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.Y652C(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						TACATAGACGTAGCTTCCAGG	0.527																																					p.Y651C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1952G	12						.						116.0	121.0	119.0					12																	5722101		2051	4196	6247	5592362	SO:0001583	missense	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.1955A>G	12.37:g.5722101T>C	ENSP00000348453:p.Tyr652Cys		5592362	NM_020373	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	T	22.0	4.231419	0.79688	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.71222	-0.55;-0.55;-0.54	4.86	4.86	0.63082	.	0.118284	0.64402	D	0.000013	D	0.86314	0.5903	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88980	0.3407	10	0.72032	D	0.01	.	12.715	0.57109	0.0:0.0:0.0:1.0	.	651	Q9NQ90-3	.	C	651;652;652;656	ENSP00000314048:Y651C;ENSP00000348453:Y652C;ENSP00000440981:Y652C	ENSP00000314048:Y651C	Y	-	2	0	ANO2	5592362	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.613000	0.82986	2.178000	0.69098	0.533000	0.62120	TAC		0.527	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
LTBR	4055	broad.mit.edu	37	12	6494269	6494269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:6494269G>A	ENST00000228918.4	+	3	601	c.275G>A	c.(274-276)tGg>tAg	p.W92*	LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000541102.1_5'Flank|LTBR_ENST00000539925.1_Nonsense_Mutation_p.W73*|LTBR_ENST00000543190.1_5'UTR	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	92					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.W92*(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						AACGAGCACTGGAACTACCTG	0.602																																					p.W92X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G275A	12						.						157.0	146.0	150.0					12																	6494269		2203	4300	6503	6364530	SO:0001587	stop_gained	4055	exon3			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.275G>A	12.37:g.6494269G>A	ENSP00000228918:p.Trp92*		6364530	NM_002342	B7Z1D2|D3DUR2|F5GXE7	Nonsense_Mutation	SNP	ENST00000228918.4	37	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	G	36	5.928356	0.97116	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000536876	.	.	.	4.64	4.64	0.57946	.	0.332724	0.29080	N	0.013209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8549	13.03	0.58837	0.0:0.0:1.0:0.0	.	.	.	.	X	73;92;87	.	ENSP00000228918:W92X	W	+	2	0	LTBR	6364530	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	3.247000	0.51422	2.108000	0.64289	0.561000	0.74099	TGG		0.602	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1		
NCAPD2	9918	broad.mit.edu	37	12	6619272	6619272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:6619272G>T	ENST00000315579.5	+	4	1034	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	NCAPD2_ENST00000545962.1_Intron|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	79	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.E79*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGGCCTCAAAGAAGATACTCT	0.443																																					p.E79X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G235T	12						.						97.0	98.0	98.0					12																	6619272		2203	4300	6503	6489533	SO:0001587	stop_gained	9918	exon4			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.235G>T	12.37:g.6619272G>T	ENSP00000325017:p.Glu79*		6489533	NM_014865	D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	44	10.895451	0.99484	.	.	ENSG00000010292	ENST00000315579;ENST00000539714	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-16.6251	17.1702	0.86827	0.0:0.0:1.0:0.0	.	.	.	.	X	79	.	ENSP00000325017:E79X	E	+	1	0	NCAPD2	6489533	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.516000	0.60496	2.492000	0.84095	0.555000	0.69702	GAA		0.443	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	
NOP2	4839	broad.mit.edu	37	12	6673109	6673109	+	Silent	SNP	G	G	A	rs553965811		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:6673109G>A	ENST00000322166.5	-	6	599	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Silent_p.L160L|NOP2_ENST00000382421.3_Silent_p.L193L|NOP2_ENST00000541778.1_Silent_p.L156L|NOP2_ENST00000545200.1_Silent_p.L156L|NOP2_ENST00000399466.2_Silent_p.L156L	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	160					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)	p.L156L(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TCAATGGGCAGCAACTGAAGA	0.483											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L156L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C466T	12						.						38.0	37.0	37.0					12																	6673109		1852	4108	5960	6543370	SO:0001819	synonymous_variant	4839	exon6				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.478C>T	12.37:g.6673109G>A		635	6543370	NM_006170	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	CCDS58203.1																																																																																				0.483	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
CHD4	1108	broad.mit.edu	37	12	6692411	6692411	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:6692411C>A	ENST00000357008.2	-	26	4176	c.4013G>T	c.(4012-4014)aGa>aTa	p.R1338I	CHD4_ENST00000309577.6_Missense_Mutation_p.R1338I|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Missense_Mutation_p.R1335I|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.R1331I	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1338					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1338I(1)		central_nervous_system(2)	2						TTTACGGATTCTTTTTCCTTT	0.552																																					p.R1338I	Colon(32;586 792 4568 16848 45314)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4013T	12						.						193.0	184.0	187.0					12																	6692411		2203	4300	6503	6562672	SO:0001583	missense	1108	exon26			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4013G>T	12.37:g.6692411C>A	ENSP00000349508:p.Arg1338Ile		6562672	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899955	0.92035	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94576	-3.45;-3.38;-3.46;-3.38	5.96	5.96	0.96718	Domain of unknown function DUF1087 (1);	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.996	D	0.97373	0.9977	10	0.87932	D	0	-6.8823	20.422	0.99049	0.0:1.0:0.0:0.0	.	1338;1338;1331	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	1335;1331;1338;1338;1312	ENSP00000440392:R1335I;ENSP00000440542:R1331I;ENSP00000312419:R1338I;ENSP00000349508:R1338I	ENSP00000312419:R1338I	R	-	2	0	CHD4	6562672	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.461000	0.80834	2.832000	0.97577	0.655000	0.94253	AGA		0.552	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
LPAR5	57121	broad.mit.edu	37	12	6748130	6748130	+	5'Flank	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:6748130C>T	ENST00000329858.4	-	0	0				ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.R467H|ACRBP_ENST00000229243.2_Missense_Mutation_p.R500H	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R500H(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CTTCCGATTGCGGTTTCTCAT	0.537																																					p.R500H	NSCLC(74;891 2312 37538)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499A	12						.						125.0	114.0	118.0					12																	6748130		2203	4300	6503	6618391	SO:0001631	upstream_gene_variant	84519	exon9			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0			12.37:g.6748130C>T	Exception_encountered		6618391	NM_032489		Missense_Mutation	SNP	ENST00000329858.4	37	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.955094	0.34471	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	T;T	0.29397	1.57;1.57	4.84	1.18	0.20946	Proteinase inhibitor I1, Kazal (1);	1.019770	0.07827	N	0.960793	T	0.20941	0.0504	N	0.24115	0.695	0.28306	N	0.922886	B;B	0.16166	0.016;0.016	B;B	0.12156	0.004;0.007	T	0.28650	-1.0037	10	0.56958	D	0.05	-13.1706	7.0021	0.24815	0.0:0.2598:0.0:0.7402	.	467;500	E7EP66;Q8NEB7	.;ACRBP_HUMAN	H	500;467	ENSP00000229243:R500H;ENSP00000402725:R467H	ENSP00000229243:R500H	R	-	2	0	ACRBP	6618391	0.100000	0.21855	0.098000	0.21074	0.860000	0.49131	0.466000	0.22019	0.054000	0.16065	0.561000	0.74099	CGC		0.537	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400	
COPS7A	50813	broad.mit.edu	37	12	6838575	6838575	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:6838575C>T	ENST00000543155.1	+	5	972	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	COPS7A_ENST00000229251.3_Missense_Mutation_p.R164C|COPS7A_ENST00000534877.1_Missense_Mutation_p.R164C|COPS7A_ENST00000534947.1_Missense_Mutation_p.R164C|COPS7A_ENST00000539735.1_Missense_Mutation_p.R164C|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000538410.1_Missense_Mutation_p.R164C	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	164					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.R164C(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						GGACATCCAGCGCCAGGACCT	0.597																																					p.R164C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C490T	12						.						106.0	84.0	91.0					12																	6838575		2203	4300	6503	6708836	SO:0001583	missense	50813	exon4			AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A"", ""COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"""				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.490C>T	12.37:g.6838575C>T	ENSP00000438115:p.Arg164Cys		6708836	NM_001164093	A8K9A6|Q9NVX3|Q9UJW4	Missense_Mutation	SNP	ENST00000543155.1	37	CCDS8558.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402270	0.83230	.	.	ENSG00000111652	ENST00000543155;ENST00000442593;ENST00000229251;ENST00000539735;ENST00000538410;ENST00000534947;ENST00000541866;ENST00000534877;ENST00000538753	.	.	.	5.39	5.39	0.77823	Proteasome component (PCI) domain (1);	0.057268	0.64402	D	0.000002	T	0.63248	0.2495	L	0.34521	1.04	0.52099	D	0.999945	D;D	0.71674	0.998;0.992	D;P	0.64042	0.921;0.731	T	0.65800	-0.6080	9	0.72032	D	0.01	-6.4221	12.3208	0.54983	0.2858:0.7142:0.0:0.0	.	164;164	F5H248;Q9UBW8	.;CSN7A_HUMAN	C	164	.	ENSP00000229251:R164C	R	+	1	0	COPS7A	6708836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.730000	0.55006	2.525000	0.85131	0.655000	0.94253	CGC		0.597	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402740.1		
CD4	920	broad.mit.edu	37	12	6923362	6923362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:6923362G>A	ENST00000011653.4	+	4	527	c.269G>A	c.(268-270)gGa>gAa	p.G90E	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.G35E	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	90	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)	p.G90E(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TGGGACCAAGGAAACTTTCCC	0.502																																					p.G90E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	12						.						140.0	136.0	137.0					12																	6923362		2203	4300	6503	6793623	SO:0001583	missense	920	exon4			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.269G>A	12.37:g.6923362G>A	ENSP00000011653:p.Gly90Glu		6793623	NM_000616	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752739	0.49362	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.68479	-0.33;-0.33	5.43	5.43	0.79202	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.594657	0.16743	N	0.201353	D	0.83445	0.5256	M	0.85542	2.76	0.31152	N	0.705355	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84046	0.0367	10	0.66056	D	0.02	-16.8437	14.7564	0.69567	0.0:0.0:1.0:0.0	.	35;90	F5H480;P01730	.;CD4_HUMAN	E	90;35	ENSP00000011653:G90E;ENSP00000445167:G35E	ENSP00000011653:G90E	G	+	2	0	CD4	6793623	0.979000	0.34478	0.845000	0.33349	0.020000	0.10135	4.489000	0.60309	2.545000	0.85829	0.462000	0.41574	GGA		0.502	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616	
PTPN6	5777	broad.mit.edu	37	12	7061171	7061171	+	Missense_Mutation	SNP	C	C	T	rs370939978		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:7061171C>T	ENST00000318974.9	+	3	401	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	PTPN6_ENST00000447931.2_Missense_Mutation_p.R14W|PTPN6_ENST00000456013.1_Missense_Mutation_p.R53W|PTPN6_ENST00000399448.1_Missense_Mutation_p.R55W	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	53	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R53W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GACCCATATTCGGATCCAGAA	0.597																																					p.R53W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C157T	12						.	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4336		0,0,2168	68.0	79.0	75.0		157,163,157	1.0	0.3	12		75	1,8563		0,1,4281	no	missense,missense,missense	PTPN6	NM_002831.5,NM_080548.4,NM_080549.3	101,101,101	0,1,6449	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging	53/596,55/598,53/625	7061171	1,12899	2168	4282	6450	6931432	SO:0001583	missense	5777	exon3				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.157C>T	12.37:g.7061171C>T	ENSP00000326010:p.Arg53Trp		6931432	NM_002831	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.229971	0.58777	0.0	1.17E-4	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.97138	-2.59;-2.59;-4.26;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.1	0.995	0.19838	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.98751	0.9580	H	0.95539	3.685	0.52099	D	0.999946	D;D;P;P;D	0.89917	1.0;1.0;0.948;0.919;0.958	D;D;B;B;B	0.76575	0.98;0.988;0.3;0.284;0.377	D	0.99529	1.0960	10	0.87932	D	0	.	14.8938	0.70627	0.6291:0.3709:0.0:0.0	.	41;14;53;53;55	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	W	74;55;14;53;53;53;53;53;12	ENSP00000443393:R74W;ENSP00000382376:R55W;ENSP00000415979:R14W;ENSP00000438740:R53W;ENSP00000326010:R53W;ENSP00000391592:R53W;ENSP00000444337:R53W;ENSP00000445646:R53W;ENSP00000440114:R12W	ENSP00000326010:R53W	R	+	1	2	PTPN6	6931432	1.000000	0.71417	0.334000	0.25495	0.991000	0.79684	2.265000	0.43311	-0.090000	0.12462	-0.314000	0.08810	CGG		0.597	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	
C1S	716	broad.mit.edu	37	12	7169821	7169821	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:7169821G>A	ENST00000406697.1	+	6	676	c.48G>A	c.(46-48)gaG>gaA	p.E16E	C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Silent_p.E16E|C1S_ENST00000360817.5_Silent_p.E16E			P09871	C1S_HUMAN	complement component 1, s subcomponent	16	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.E16E(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)	TTTATGCTGAGCCTACCATGT	0.488																																					p.E16E	GBM(156;750 1943 12971 24779 31015)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G48A	12						.						135.0	123.0	127.0					12																	7169821		2203	4300	6503	7040082	SO:0001819	synonymous_variant	716	exon3				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.48G>A	12.37:g.7169821G>A			7040082	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	CCDS31735.1																																																																																				0.488	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
C1R	715	broad.mit.edu	37	12	7242716	7242716	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:7242716G>T	ENST00000542285.1	-	3	506	c.357C>A	c.(355-357)ttC>ttA	p.F119L	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	120	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.F134L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCGTTGGAGAAGTCTGTGT	0.547																																					p.F120L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C360A	12						.						59.0	60.0	60.0					12																	7242716		1950	4137	6087	7133857	SO:0001583	missense	715	exon3			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.357C>A	12.37:g.7242716G>T	ENSP00000438615:p.Phe119Leu		7133857	NM_001733	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.089192	0.94100	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285;ENST00000540610;ENST00000543835;ENST00000541042;ENST00000540242;ENST00000538050	T;T;T;T;T;T	0.33216	2.31;1.42;1.42;1.42;2.31;1.42	5.43	4.54	0.55810	CUB (5);	0.000000	0.85682	D	0.000000	T	0.56543	0.1992	.	.	.	0.80722	D	1	D;D;P	0.76494	0.999;0.987;0.883	D;D;P	0.83275	0.996;0.932;0.688	T	0.62704	-0.6798	9	0.87932	D	0	.	14.148	0.65362	0.072:0.0:0.928:0.0	.	86;134;120	F5H2D0;B4DPQ0;P00736	.;.;C1R_HUMAN	L	120;134;86;134;119;15;95;15;120;15	ENSP00000438615:F119L;ENSP00000439223:F15L;ENSP00000445285:F95L;ENSP00000441601:F15L;ENSP00000442946:F120L;ENSP00000444009:F15L	ENSP00000290575:F134L	F	-	3	2	C1R	7133857	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.093000	0.64517	1.297000	0.44761	0.462000	0.41574	TTC		0.547	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733	
CD163	9332	broad.mit.edu	37	12	7639988	7639988	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:7639988G>A	ENST00000359156.4	-	8	2219	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.P661S|CD163_ENST00000396620.3_Missense_Mutation_p.P706S|CD163_ENST00000432237.2_Missense_Mutation_p.P673S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	673	SRCR 6. {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.P673S(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)	TGCTCTGAAGGACATAATGAA	0.473																																					p.P673S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2017T	12						.						85.0	75.0	79.0					12																	7639988		2203	4300	6503	7531255	SO:0001583	missense	9332	exon8			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.2017C>T	12.37:g.7639988G>A	ENSP00000352071:p.Pro673Ser		7531255	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.094968	0.00364	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.36	-2.77	0.05877	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.234521	0.38217	N	0.001773	T	0.04318	0.0119	N	0.01188	-0.97	0.26710	N	0.970996	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.06405	0.002;0.001;0.002	T	0.29366	-1.0014	10	0.02654	T	1	.	0.8267	0.01122	0.4636:0.1224:0.1749:0.2391	.	706;673;673	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	S	673;661;706;673	ENSP00000352071:P673S;ENSP00000444071:P661S;ENSP00000379863:P706S;ENSP00000403885:P673S	ENSP00000352071:P673S	P	-	1	0	CD163	7531255	0.000000	0.05858	0.291000	0.24904	0.064000	0.16182	-1.522000	0.02237	-0.237000	0.09739	-0.345000	0.07892	CCT		0.473	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	7640147	7640147	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:7640147G>T	ENST00000359156.4	-	8	2060	c.1858C>A	c.(1858-1860)Ctt>Att	p.L620I	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.L608I|CD163_ENST00000396620.3_Missense_Mutation_p.L653I|CD163_ENST00000432237.2_Missense_Mutation_p.L620I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	620	SRCR 6. {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.L620I(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)	TGCTGGCAAAGAACATGGGCA	0.517																																					p.L620I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1858A	12						.						132.0	124.0	127.0					12																	7640147		2203	4300	6503	7531414	SO:0001583	missense	9332	exon8			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.1858C>A	12.37:g.7640147G>T	ENSP00000352071:p.Leu620Ile		7531414	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841678	0.32513	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.21	-5.13	0.02884	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.644375	0.14346	N	0.325394	T	0.16214	0.0390	L	0.31371	0.925	0.09310	N	1	B;B;B	0.31241	0.205;0.015;0.315	B;B;B	0.35312	0.2;0.015;0.2	T	0.15694	-1.0428	10	0.51188	T	0.08	.	1.8702	0.03207	0.4402:0.1031:0.2851:0.1716	.	653;620;620	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	I	620;608;653;620	ENSP00000352071:L620I;ENSP00000444071:L608I;ENSP00000379863:L653I;ENSP00000403885:L620I	ENSP00000352071:L620I	L	-	1	0	CD163	7531414	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-0.621000	0.05559	-1.004000	0.03421	0.655000	0.94253	CTT		0.517	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
GDF3	9573	broad.mit.edu	37	12	7843275	7843275	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:7843275A>C	ENST00000329913.3	-	2	341	c.294T>G	c.(292-294)atT>atG	p.I98M		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	98					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.I98M(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						AAGCTTGGGAAATTTTCTTTG	0.428																																					p.I98M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T294G	12						.						41.0	48.0	46.0					12																	7843275		2199	4297	6496	7734542	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.294T>G	12.37:g.7843275A>C	ENSP00000331745:p.Ile98Met		7734542	NM_020634	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	A	1.068	-0.670685	0.03403	.	.	ENSG00000184344	ENST00000329913	T	0.80738	-1.41	4.09	0.214	0.15249	Transforming growth factor-beta, N-terminal (1);	1.746570	0.02425	N	0.083012	T	0.60637	0.2284	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.51348	-0.8717	10	0.33940	T	0.23	.	1.2128	0.01908	0.409:0.3118:0.1132:0.1661	.	98	Q9NR23	GDF3_HUMAN	M	98	ENSP00000331745:I98M	ENSP00000331745:I98M	I	-	3	3	GDF3	7734542	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.009000	0.12765	0.586000	0.29626	0.454000	0.30748	ATT		0.428	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
CLEC4C	170482	broad.mit.edu	37	12	7883477	7883477	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:7883477G>T	ENST00000542353.1	-	6	903	c.413C>A	c.(412-414)tCt>tAt	p.S138Y	CLEC4C_ENST00000540085.1_Missense_Mutation_p.S107Y|CLEC4C_ENST00000354629.5_Missense_Mutation_p.S107Y|CLEC4C_ENST00000360345.3_Missense_Mutation_p.S138Y	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	138	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S138Y(2)		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)		AAAATAAGAAGAATTTCTTTT	0.463																																					p.S107Y												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C320A	12						.						76.0	77.0	77.0					12																	7883477		2203	4300	6503	7774744	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.413C>A	12.37:g.7883477G>T	ENSP00000440428:p.Ser138Tyr		7774744	NM_203503	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650483	0.00785	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000537530;ENST00000543765	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	1.88	-0.336	0.12658	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.26629	0.0651	L	0.46885	1.475	0.09310	N	1	D;D	0.62365	0.991;0.983	P;P	0.62184	0.899;0.759	T	0.23691	-1.0181	9	0.12103	T	0.63	.	5.8537	0.18708	0.0:0.0:0.4414:0.5586	.	107;138	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	Y	138;107;107;138;60;98	ENSP00000440428:S138Y;ENSP00000346648:S107Y;ENSP00000445338:S107Y;ENSP00000353500:S138Y;ENSP00000438649:S60Y;ENSP00000442457:S98Y	ENSP00000346648:S107Y	S	-	2	0	CLEC4C	7774744	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.505000	0.06367	-0.091000	0.12440	0.561000	0.74099	TCT		0.463	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	
CLEC4D	338339	broad.mit.edu	37	12	8670800	8670800	+	Silent	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:8670800A>T	ENST00000299665.2	+	3	355	c.162A>T	c.(160-162)ggA>ggT	p.G54G		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	54					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G54G(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAGGCACAGGAGTGCACAAGT	0.363																																					p.G54G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A162T	12						.						68.0	60.0	62.0					12																	8670800		2203	4300	6503	8562067	SO:0001819	synonymous_variant	338339	exon3			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.162A>T	12.37:g.8670800A>T			8562067	NM_080387	Q8N5J5	Silent	SNP	ENST00000299665.2	37	CCDS8593.1																																																																																				0.363	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387	
AICDA	57379	broad.mit.edu	37	12	8759562	8759562	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:8759562G>A	ENST00000229335.6	-	2	158	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	AICDA_ENST00000537228.1_Missense_Mutation_p.R19C	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	19	Interaction with SUPT6H.|Nuclear localization signal.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R19C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					TTAGCCCAGCGGACATTTTTG	0.468																																					p.R19C	GBM(62;896 1067 5527 26594 30137)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55T	12						.						55.0	53.0	53.0					12																	8759562		1919	4125	6044	8650829	SO:0001583	missense	57379	exon2			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.55C>T	12.37:g.8759562G>A	ENSP00000229335:p.Arg19Cys		8650829	NM_020661	Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658384	0.67586	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.71103	-0.54;-0.54	5.36	4.38	0.52667	APOBEC-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81470	0.4829	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81814	-0.0760	10	0.48119	T	0.1	-26.3629	15.5288	0.75936	0.0:0.0:0.8524:0.1476	.	19;19;19	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	C	19	ENSP00000229335:R19C;ENSP00000445691:R19C	ENSP00000229335:R19C	R	-	1	0	AICDA	8650829	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.251000	0.78297	2.505000	0.84491	0.467000	0.42956	CGC		0.468	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
RIMKLB	57494	broad.mit.edu	37	12	8866590	8866590	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:8866590C>T	ENST00000538135.1	+	2	953	c.128C>T	c.(127-129)gCt>gTt	p.A43V	RIMKLB_ENST00000357529.3_Missense_Mutation_p.A43V|RIMKLB_ENST00000535829.1_Missense_Mutation_p.A43V|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	43					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.A43V(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GACTTTAGGGCTGTGGTGATG	0.423																																					p.A43V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128T	12						.						126.0	134.0	132.0					12																	8866590		2027	4157	6184	8757857	SO:0001583	missense	57494	exon3			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.128C>T	12.37:g.8866590C>T	ENSP00000440943:p.Ala43Val		8757857	NM_020734	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611718	0.66558	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.64	5.64	0.86602	.	0.269703	0.31031	U	0.008395	T	0.50990	0.1648	L	0.39898	1.24	0.47276	D	0.999373	B;B	0.24823	0.112;0.031	B;B	0.20955	0.032;0.014	T	0.50338	-0.8840	9	0.02654	T	1	.	18.2771	0.90087	0.0:1.0:0.0:0.0	.	43;43	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	V	43;43;104;43;43;43	.	ENSP00000350136:A43V	A	+	2	0	RIMKLB	8757857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.114000	0.64648	2.659000	0.90383	0.650000	0.86243	GCT		0.423	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734	
A2ML1	144568	broad.mit.edu	37	12	8988906	8988906	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:8988906G>C	ENST00000299698.7	+	7	879	c.699G>C	c.(697-699)caG>caC	p.Q233H		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.Q233H(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						CAACGGTGCAGGAATCTTTCT	0.448																																					p.Q233H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699C	12						.						114.0	109.0	111.0					12																	8988906		1888	4108	5996	8880173	SO:0001583	missense	144568	exon7			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.699G>C	12.37:g.8988906G>C	ENSP00000299698:p.Gln233His		8880173	NM_144670		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318292	0.40996	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.30981	1.51	3.44	-0.569	0.11756	.	0.611088	0.13568	N	0.378272	T	0.26122	0.0637	N	0.24115	0.695	0.09310	N	1	P	0.42556	0.783	P	0.53450	0.726	T	0.16247	-1.0409	10	0.72032	D	0.01	.	1.268	0.02015	0.2011:0.3226:0.3111:0.1651	.	233	A8K2U0	A2ML1_HUMAN	H	233	ENSP00000299698:Q233H	ENSP00000299698:Q233H	Q	+	3	2	A2ML1	8880173	0.000000	0.05858	0.013000	0.15412	0.981000	0.71138	-1.830000	0.01699	-0.113000	0.11958	0.655000	0.94253	CAG		0.448	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	9004439	9004439	+	Missense_Mutation	SNP	C	C	T	rs370203983		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:9004439C>T	ENST00000299698.7	+	19	2474	c.2294C>T	c.(2293-2295)gCg>gTg	p.A765V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A274V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.A765V(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						GAGTGGAAGGCGATGAGTTTC	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				p.A765V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2294T	12						.	C	VAL/ALA	1,4051		0,1,2025	108.0	108.0	108.0		2294	3.8	0.9	12		108	1,8357		0,1,4178	no	missense	A2ML1	NM_144670.3	64	0,2,6203	TT,TC,CC		0.012,0.0247,0.0161	possibly-damaging	765/1455	9004439	2,12408	2026	4179	6205	8895706	SO:0001583	missense	144568	exon19			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.2294C>T	12.37:g.9004439C>T	ENSP00000299698:p.Ala765Val		8895706	NM_144670		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464079	0.63513	2.47E-4	1.2E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.22945	1.93;1.93;1.93	3.84	3.84	0.44239	Alpha-2-macroglobulin (1);	0.000000	0.45361	D	0.000368	T	0.35828	0.0945	L	0.31845	0.965	0.48135	D	0.999597	D	0.71674	0.998	P	0.62184	0.899	T	0.11155	-1.0599	10	0.45353	T	0.12	.	14.9352	0.70948	0.0:1.0:0.0:0.0	.	765	A8K2U0	A2ML1_HUMAN	V	765;765;315;274	ENSP00000299698:A765V;ENSP00000443174:A315V;ENSP00000438292:A274V	ENSP00000299698:A765V	A	+	2	0	A2ML1	8895706	0.858000	0.29795	0.932000	0.37286	0.236000	0.25371	1.720000	0.38022	2.163000	0.67991	0.436000	0.28706	GCG		0.537	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	9004502	9004502	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:9004502C>T	ENST00000299698.7	+	19	2537	c.2357C>T	c.(2356-2358)gCt>gTt	p.A786V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A295V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.A786V(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						GGACTAACTGCTTTCAAGCCG	0.507																																					p.A786V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2357T	12						.						153.0	153.0	153.0					12																	9004502		1980	4164	6144	8895769	SO:0001583	missense	144568	exon19			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.2357C>T	12.37:g.9004502C>T	ENSP00000299698:p.Ala786Val		8895769	NM_144670		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	6.411	0.444045	0.12164	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.20881	2.04;2.04;2.04	3.85	2.95	0.34219	Alpha-2-macroglobulin (1);	0.479552	0.17280	N	0.180048	T	0.11153	0.0272	N	0.11201	0.11	0.28118	N	0.930744	B	0.27140	0.169	B	0.34180	0.177	T	0.34875	-0.9811	10	0.14252	T	0.57	.	8.1857	0.31337	0.0:0.7994:0.0:0.2006	.	786	A8K2U0	A2ML1_HUMAN	V	786;786;336;295	ENSP00000299698:A786V;ENSP00000443174:A336V;ENSP00000438292:A295V	ENSP00000299698:A786V	A	+	2	0	A2ML1	8895769	0.010000	0.17322	0.988000	0.46212	0.196000	0.23810	0.244000	0.18124	0.980000	0.38523	0.442000	0.29010	GCT		0.507	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2M	2	broad.mit.edu	37	12	9247596	9247596	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:9247596G>C	ENST00000318602.7	-	17	2405	c.2098C>G	c.(2098-2100)Cct>Gct	p.P700A		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	700	Bait region.				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.P700A(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)	AGACCTTCAGGTCCATGCATT	0.308																																					p.P700A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2098G	12						.						90.0	79.0	82.0					12																	9247596		1842	4081	5923	9138863	SO:0001583	missense	2	exon17			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.2098C>G	12.37:g.9247596G>C	ENSP00000323929:p.Pro700Ala		9138863	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	4.498	0.092446	0.08632	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.28666	1.6	4.34	-5.59	0.02505	.	1.207840	0.06834	U	0.794578	T	0.11750	0.0286	N	0.13003	0.285	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34625	-0.9821	10	0.05721	T	0.95	.	5.0712	0.14608	0.1394:0.6079:0.1331:0.1196	.	700	P01023	A2MG_HUMAN	A	700;715	ENSP00000323929:P700A	ENSP00000323929:P700A	P	-	1	0	A2M	9138863	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.682000	0.01935	-0.967000	0.03582	0.655000	0.94253	CCT		0.308	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
PZP	5858	broad.mit.edu	37	12	9305812	9305812	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:9305812T>A	ENST00000261336.2	-	30	3930	c.3902A>T	c.(3901-3903)aAc>aTc	p.N1301I	PZP_ENST00000381997.2_Missense_Mutation_p.N1087I	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1301					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.N1087I(1)|p.N1301I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TAGGAGGTTGTTGTTGTCTAC	0.458																																					p.N1301I	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3902T	12						.						159.0	158.0	159.0					12																	9305812		2203	4300	6503	9197079	SO:0001583	missense	5858	exon30			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3902A>T	12.37:g.9305812T>A	ENSP00000261336:p.Asn1301Ile		9197079	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	7.824	0.718473	0.15372	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35605	1.5;1.3	3.7	-6.32	0.01995	.	1.106060	0.07072	U	0.835623	T	0.31389	0.0795	M	0.65498	2.005	0.09310	N	1	B;B	0.34103	0.018;0.437	B;B	0.34038	0.037;0.174	T	0.21965	-1.0230	10	0.51188	T	0.08	.	6.7183	0.23316	0.0:0.28:0.3147:0.4052	.	1087;1301	P20742-2;P20742	.;PZP_HUMAN	I	1301;1087	ENSP00000261336:N1301I;ENSP00000371427:N1087I	ENSP00000261336:N1301I	N	-	2	0	PZP	9197079	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.626000	0.00874	-2.040000	0.00916	-2.057000	0.00402	AAC		0.458	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PZP	5858	broad.mit.edu	37	12	9307350	9307350	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:9307350C>T	ENST00000261336.2	-	29	3664	c.3636G>A	c.(3634-3636)gtG>gtA	p.V1212V	PZP_ENST00000381997.2_Silent_p.V998V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1212					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1212V(1)|p.V998V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGTCATCTCCACCTCAGCAG	0.562																																					p.V1212V	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3636A	12						.						87.0	82.0	84.0					12																	9307350		2203	4300	6503	9198617	SO:0001819	synonymous_variant	5858	exon29			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3636G>A	12.37:g.9307350C>T			9198617	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.562	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PZP	5858	broad.mit.edu	37	12	9318650	9318650	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:9318650C>A	ENST00000261336.2	-	18	2284	c.2256G>T	c.(2254-2256)gtG>gtT	p.V752V	PZP_ENST00000381997.2_Silent_p.V621V|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	752					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V752V(1)|p.V621V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTACTTACTTCACTGCCACCA	0.418																																					p.V752V	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2256T	12						.						144.0	135.0	138.0					12																	9318650		2203	4300	6503	9209917	SO:0001819	synonymous_variant	5858	exon18			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2256G>T	12.37:g.9318650C>A			9209917	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.418	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
CLEC2B	9976	broad.mit.edu	37	12	10010172	10010172	+	Silent	SNP	G	G	A	rs566724328		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:10010172G>A	ENST00000228438.2	-	3	1071	c.138C>T	c.(136-138)tgC>tgT	p.C46C	CLEC2B_ENST00000538152.1_5'Flank	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	46	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.C46C(1)		endometrium(1)|large_intestine(3)|lung(1)	5						AGAAATAATAGCATTTGTTTT	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		18833	0.0		0.0	False		,,,				2504	0.001				p.C46C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	12						.						67.0	67.0	67.0					12																	10010172		2203	4296	6499	9901439	SO:0001819	synonymous_variant	9976	exon3			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.138C>T	12.37:g.10010172G>A			9901439	NM_005127	B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Silent	SNP	ENST00000228438.2	37	CCDS8605.1																																																																																				0.333	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399881.1	NM_005127	
ATF7IP	55729	broad.mit.edu	37	12	14589105	14589105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:14589105C>T	ENST00000540793.1	+	3	1866	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R570*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R570*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.R579*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R571*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	571	Glu-rich.|Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.R571*(2)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAAACGTCGTCGATATATGGA	0.358																																					p.R571X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1711T	12						.						120.0	121.0	120.0					12																	14589105		2203	4300	6503	14480372	SO:0001587	stop_gained	55729	exon4			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1711C>T	12.37:g.14589105C>T	ENSP00000444589:p.Arg571*		14480372	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	39	7.746878	0.98468	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.48	4.57	0.56435	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5873	15.4187	0.74995	0.1404:0.8596:0.0:0.0	.	.	.	.	X	571;10;570;570;579;571	.	ENSP00000261168:R571X	R	+	1	2	ATF7IP	14480372	1.000000	0.71417	0.974000	0.42286	0.989000	0.77384	3.412000	0.52679	1.401000	0.46761	0.585000	0.79938	CGA		0.358	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
WBP11	51729	broad.mit.edu	37	12	14942020	14942020	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:14942020G>A	ENST00000261167.2	-	11	1590	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	453	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.P453S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CGGGGTAAGGGCCCTCGGAGT	0.557																																					p.P453S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1357T	12						.						32.0	33.0	33.0					12																	14942020		2203	4300	6503	14833287	SO:0001583	missense	51729	exon11			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1357C>T	12.37:g.14942020G>A	ENSP00000261167:p.Pro453Ser		14833287	NM_016312	Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719134	0.68844	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.90261	-2.64	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94101	0.7362	10	0.62326	D	0.03	-15.4809	15.1335	0.72545	0.0:0.0:1.0:0.0	.	453	Q9Y2W2	WBP11_HUMAN	S	453;419	ENSP00000442868:P419S	ENSP00000261167:P453S	P	-	1	0	WBP11	14833287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.101000	0.94219	2.442000	0.82660	0.585000	0.79938	CCC		0.557	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	
C12orf60	144608	broad.mit.edu	37	12	14975902	14975902	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:14975902A>G	ENST00000330828.2	+	2	237	c.33A>G	c.(31-33)agA>agG	p.R11R	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	11								p.R11R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ATAAAGAGAGACTGATTCAAG	0.353																																					p.R11R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A33G	12						.						90.0	90.0	90.0					12																	14975902		2203	4300	6503	14867169	SO:0001819	synonymous_variant	144608	exon2			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.33A>G	12.37:g.14975902A>G			14867169	NM_175874	A8K1M7|Q5XKK8|Q8IXY2	Silent	SNP	ENST00000330828.2	37	CCDS8667.1																																																																																				0.353	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874	
PTPRO	5800	broad.mit.edu	37	12	15654588	15654588	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:15654588C>T	ENST00000281171.4	+	5	1026	c.696C>T	c.(694-696)atC>atT	p.I232I	PTPRO_ENST00000543886.1_Silent_p.I232I|PTPRO_ENST00000348962.2_Silent_p.I232I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	232					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.I232I(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)				CCGTTCGTATCGTAAACTTGA	0.338																																					p.I232I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C696T	12						.						51.0	52.0	52.0					12																	15654588		2203	4300	6503	15545855	SO:0001819	synonymous_variant	5800	exon5			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.696C>T	12.37:g.15654588C>T			15545855	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																				0.338	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
MGST1	4257	broad.mit.edu	37	12	16510612	16510612	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:16510612A>G	ENST00000396209.1	+	3	343	c.200A>G	c.(199-201)gAc>gGc	p.D67G	MGST1_ENST00000540056.1_Intron|MGST1_ENST00000010404.2_Missense_Mutation_p.D67G|MGST1_ENST00000535309.1_Missense_Mutation_p.D67G|MGST1_ENST00000396210.3_Missense_Mutation_p.D67G|MGST1_ENST00000396207.1_Missense_Mutation_p.D67G	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	67					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.D67G(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	CGAACAGATGACAGAGTAGAA	0.383																																					p.D67G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A200G	12						.						107.0	104.0	105.0					12																	16510612		2203	4300	6503	16401879	SO:0001583	missense	4257	exon3			U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.200A>G	12.37:g.16510612A>G	ENSP00000379512:p.Asp67Gly		16401879	NM_145764	A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537249	0.45176	.	.	ENSG00000008394	ENST00000536371;ENST00000010404;ENST00000543076;ENST00000396210;ENST00000535309;ENST00000396209;ENST00000540126;ENST00000396207	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.22	5.22	0.72569	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.452778	0.24527	N	0.037742	T	0.47021	0.1423	L	0.42245	1.32	0.30494	N	0.771037	B	0.22080	0.064	B	0.30943	0.122	T	0.53542	-0.8424	10	0.59425	D	0.04	-13.5473	9.9076	0.41386	0.7733:0.2266:0.0:0.0	.	67	P10620	MGST1_HUMAN	G	67;67;31;67;67;67;67;67	ENSP00000010404:D67G;ENSP00000442767:D31G;ENSP00000379513:D67G;ENSP00000379512:D67G;ENSP00000379510:D67G	ENSP00000010404:D67G	D	+	2	0	MGST1	16401879	0.996000	0.38824	0.969000	0.41365	0.995000	0.86356	3.673000	0.54591	2.193000	0.70182	0.533000	0.62120	GAC		0.383	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791	
PIK3C2G	5288	broad.mit.edu	37	12	18491360	18491360	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:18491360G>A	ENST00000266497.5	+	8	1311	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	PIK3C2G_ENST00000535651.1_Splice_Site_p.E425K|PIK3C2G_ENST00000433979.1_Splice_Site_p.E425K|PIK3C2G_ENST00000538779.1_Splice_Site_p.E425K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	425					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E425K(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTATCTACAGGAAAACGTGTA	0.318																																					p.E425K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1273A	12						.						76.0	78.0	77.0					12																	18491360		1823	4065	5888	18382627	SO:0001630	splice_region_variant	5288	exon9			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1273-1G>A	12.37:g.18491360G>A			18382627	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	8.588	0.883938	0.17467	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.60171	1.55;0.22;0.22;0.21	4.48	1.58	0.23477	.	1.128570	0.07005	N	0.823976	T	0.40546	0.1121	N	0.24115	0.695	0.30616	N	0.758951	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.37454	-0.9705	9	.	.	.	-2.7351	6.3788	0.21523	0.3215:0.4698:0.2088:0.0	.	424;425;425	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	K	425	ENSP00000443850:E425K;ENSP00000404845:E425K;ENSP00000266497:E425K;ENSP00000445381:E425K	.	E	+	1	0	PIK3C2G	18382627	0.987000	0.35691	0.926000	0.36857	0.955000	0.61496	-0.107000	0.10873	0.352000	0.24053	0.650000	0.86243	GAA		0.318	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	Missense_Mutation
PLCZ1	89869	broad.mit.edu	37	12	18849173	18849173	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:18849173T>G	ENST00000538330.1	-	7	929	c.548A>C	c.(547-549)aAg>aCg	p.K183T	PLCZ1_ENST00000447925.2_Missense_Mutation_p.K399T|PLCZ1_ENST00000541695.1_Missense_Mutation_p.K264T|PLCZ1_ENST00000534932.1_5'Flank|PLCZ1_ENST00000539875.1_Missense_Mutation_p.K208T|PLCZ1_ENST00000266505.7_Missense_Mutation_p.K401T|PLCZ1_ENST00000435379.1_Missense_Mutation_p.K206T|PLCZ1_ENST00000542762.1_5'UTR					phospholipase C, zeta 1									p.K401T(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGTAATGAACTTCCTGGTGTG	0.274																																					p.K401T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1202C	12						.						44.0	47.0	46.0					12																	18849173		2200	4298	6498	18740440	SO:0001583	missense	89869	exon11			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.548A>C	12.37:g.18849173T>G	ENSP00000445880:p.Lys183Thr		18740440	NM_033123		Missense_Mutation	SNP	ENST00000538330.1	37		.	.	.	.	.	.	.	.	.	.	T	10.40	1.340367	0.24339	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.61	-1.74	0.08056	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.758424	0.12350	N	0.476686	T	0.44603	0.1301	L	0.28014	0.82	0.09310	N	1	P;P	0.39920	0.533;0.695	B;B	0.38156	0.266;0.266	T	0.37174	-0.9717	10	0.54805	T	0.06	.	1.5434	0.02559	0.1345:0.3059:0.1462:0.4134	.	401;183	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	T	183;401;399;206;264;208;136	ENSP00000445880:K183T;ENSP00000266505:K401T;ENSP00000402358:K399T;ENSP00000400504:K206T;ENSP00000443349:K264T;ENSP00000445026:K208T;ENSP00000445889:K136T	ENSP00000266505:K401T	K	-	2	0	PLCZ1	18740440	0.000000	0.05858	0.016000	0.15963	0.994000	0.84299	-0.388000	0.07352	-0.173000	0.10761	0.455000	0.32223	AAG		0.274	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123	
PLCZ1	89869	broad.mit.edu	37	12	18876418	18876418	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:18876418C>T	ENST00000266505.7	-	4	457	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	PLCZ1_ENST00000447925.2_Missense_Mutation_p.R63Q|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron					phospholipase C, zeta 1									p.R65Q(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CGTGATAATTCGATAAATTGC	0.343																																					p.R65Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194A	12						.						89.0	90.0	90.0					12																	18876418		2202	4298	6500	18767685	SO:0001583	missense	89869	exon4			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.194G>A	12.37:g.18876418C>T	ENSP00000266505:p.Arg65Gln		18767685	NM_033123		Missense_Mutation	SNP	ENST00000266505.7	37	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663172	0.67700	.	.	ENSG00000139151	ENST00000266505;ENST00000447925	T;T	0.45276	0.9;0.9	5.02	5.02	0.67125	EF-hand-like domain (1);	0.000000	0.46442	D	0.000297	T	0.37489	0.1005	M	0.66939	2.045	0.80722	D	1	D	0.54397	0.966	B	0.35550	0.205	T	0.39981	-0.9587	10	0.28530	T	0.3	.	15.4848	0.75557	0.0:1.0:0.0:0.0	.	65	Q86YW0	PLCZ1_HUMAN	Q	65;63	ENSP00000266505:R65Q;ENSP00000402358:R63Q	ENSP00000266505:R65Q	R	-	2	0	PLCZ1	18767685	0.998000	0.40836	0.998000	0.56505	0.723000	0.41478	4.770000	0.62309	2.325000	0.78763	0.563000	0.77884	CGA		0.343	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123	
PDE3A	5139	broad.mit.edu	37	12	20803484	20803484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:20803484G>T	ENST00000359062.3	+	14	2915	c.2875G>T	c.(2875-2877)Gaa>Taa	p.E959*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	959	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.E959*(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TAAATGTAAAGAACTCCATCT	0.363																																					p.E959X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2875T	12						.						150.0	141.0	144.0					12																	20803484		2203	4300	6503	20694751	SO:0001587	stop_gained	5139	exon14				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2875G>T	12.37:g.20803484G>T	ENSP00000351957:p.Glu959*		20694751	NM_000921	O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	42	9.310732	0.99133	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.73	5.73	0.89815	.	0.292489	0.39083	N	0.001471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.9017	0.96988	0.0:0.0:1.0:0.0	.	.	.	.	X	959	.	ENSP00000351957:E959X	E	+	1	0	PDE3A	20694751	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.414000	0.97362	2.707000	0.92482	0.561000	0.74099	GAA		0.363	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
SLCO1B1	10599	broad.mit.edu	37	12	21355619	21355619	+	Splice_Site	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:21355619G>T	ENST00000256958.2	+	10	1426	c.1330G>T	c.(1330-1332)Gga>Tga	p.G444*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	444					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.G444*(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)	GACCTATGATGGGTTTGTATA	0.303																																					p.G444X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1330T	12						.						58.0	57.0	57.0					12																	21355619		2203	4296	6499	21246886	SO:0001630	splice_region_variant	10599	exon10				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.1331+1G>T	12.37:g.21355619G>T			21246886	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Nonsense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668481	0.88348	.	.	ENSG00000134538	ENST00000256958	.	.	.	2.96	2.96	0.34315	.	0.173284	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.0099	0.19569	0.1481:0.0:0.8519:0.0	.	.	.	.	X	444	.	ENSP00000256958:G444X	G	+	1	0	SLCO1B1	21246886	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	2.554000	0.45845	1.633000	0.50488	0.305000	0.20034	GGA		0.303	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Nonsense_Mutation
SLCO1B1	10599	broad.mit.edu	37	12	21370112	21370112	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:21370112C>A	ENST00000256958.2	+	12	1653	c.1557C>A	c.(1555-1557)gcC>gcA	p.A519A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	519					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.A519A(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)	ATTACTCAGCCCATTTGGGTG	0.358																																					p.A519A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1557A	12						.						130.0	130.0	130.0					12																	21370112		2203	4300	6503	21261379	SO:0001819	synonymous_variant	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.1557C>A	12.37:g.21370112C>A			21261379	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	CCDS8685.1																																																																																				0.358	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
SLCO1A2	6579	broad.mit.edu	37	12	21450405	21450405	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:21450405G>T	ENST00000307378.6	-	10	1728	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	SLCO1A2_ENST00000537524.1_Silent_p.I204I|SLCO1A2_ENST00000452078.1_Silent_p.I336I|SLCO1A2_ENST00000390670.3_Silent_p.I334I|SLCO1A2_ENST00000458504.1_Silent_p.I204I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	336					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.I336I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	GCATGAAGGAGATCATGTTAA	0.348																																					p.I336I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008A	12						.						144.0	133.0	137.0					12																	21450405		2203	4300	6503	21341672	SO:0001819	synonymous_variant	6579	exon10				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1008C>A	12.37:g.21450405G>T			21341672	NM_134431	Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	CCDS8686.1																																																																																				0.348	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094	
PYROXD1	79912	broad.mit.edu	37	12	21620426	21620426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:21620426G>A	ENST00000240651.9	+	11	1182	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*	PYROXD1_ENST00000538582.1_Nonsense_Mutation_p.W305*	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	376							oxidoreductase activity (GO:0016491)	p.W376*(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TGAGGCTGTGGACCCAGGCTA	0.398																																					p.W376X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1128A	12						.						104.0	94.0	97.0					12																	21620426		2203	4300	6503	21511693	SO:0001587	stop_gained	79912	exon11			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.1128G>A	12.37:g.21620426G>A	ENSP00000240651:p.Trp376*		21511693	NM_024854	A6NKI6|B3KWN8|Q9H6P1	Nonsense_Mutation	SNP	ENST00000240651.9	37	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	37	6.431991	0.97564	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.576	0.84648	0.0:0.0:1.0:0.0	.	.	.	.	X	82;376;305	.	ENSP00000240651:W376X	W	+	3	0	PYROXD1	21511693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.267000	0.95665	2.832000	0.97577	0.655000	0.94253	TGG		0.398	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854	
SPX	80763	broad.mit.edu	37	12	21680108	21680108	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:21680108C>A	ENST00000256969.2	+	3	293	c.127C>A	c.(127-129)Ctc>Atc	p.L43I		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		43					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)	p.L43I(1)		endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCAAGCTATGCTCTACCTGAA	0.458																																					p.L43I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C127A	12						.						112.0	109.0	110.0					12																	21680108		2203	4300	6503	21571375	SO:0001583	missense	80763	exon3																														ENST00000256969.2:c.127C>A	12.37:g.21680108C>A	ENSP00000256969:p.Leu43Ile		21571375	NM_030572	B3KND6	Missense_Mutation	SNP	ENST00000256969.2	37	CCDS31757.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.264949	0.80358	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000003	T	0.75989	0.3925	M	0.63843	1.955	0.44055	D	0.996797	D	0.89917	1.0	D	0.83275	0.996	T	0.76228	-0.3036	9	0.46703	T	0.11	-0.0532	15.6966	0.77506	0.0:1.0:0.0:0.0	.	43	Q9BT56	SPXN_HUMAN	I	43	.	ENSP00000256969:L43I	L	+	1	0	C12orf39	21571375	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.151000	0.58105	2.530000	0.85305	0.591000	0.81541	CTC		0.458	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1		
GYS2	2998	broad.mit.edu	37	12	21693417	21693417	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:21693417C>T	ENST00000261195.2	-	14	1990	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	579					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.R579H(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						CCTTTGGCGGCGTGACTGTTT	0.438																																					p.R579H	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1736A	12						.						152.0	156.0	154.0					12																	21693417		2203	4300	6503	21584684	SO:0001583	missense	2998	exon14				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.1736G>A	12.37:g.21693417C>T	ENSP00000261195:p.Arg579His		21584684	NM_021957	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349968	0.95830	.	.	ENSG00000111713	ENST00000261195	T	0.73152	-0.72	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89839	0.4001	10	0.87932	D	0	-15.7599	18.6922	0.91588	0.0:1.0:0.0:0.0	.	579	P54840	GYS2_HUMAN	H	579	ENSP00000261195:R579H	ENSP00000261195:R579H	R	-	2	0	GYS2	21584684	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.638000	0.83328	2.641000	0.89580	0.650000	0.86243	CGC		0.438	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
LDHB	3945	broad.mit.edu	37	12	21799898	21799898	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:21799898C>T	ENST00000396076.1	-	3	514	c.182G>A	c.(181-183)gGa>gAa	p.G61E	LDHB_ENST00000350669.1_Missense_Mutation_p.G61E	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	61					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.G61E(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CATCATTTCTCCTTTAAGCTT	0.398																																					p.G61E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G182A	12						.						137.0	118.0	124.0					12																	21799898		2203	4300	6503	21691165	SO:0001583	missense	3945	exon3				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.182G>A	12.37:g.21799898C>T	ENSP00000379386:p.Gly61Glu		21691165	NM_002300		Missense_Mutation	SNP	ENST00000396076.1	37	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382182	0.82792	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075;ENST00000450584;ENST00000539782	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	4.96	4.03	0.46877	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	H	0.99117	4.435	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.99167	1.0863	10	0.72032	D	0.01	.	15.359	0.74453	0.0:0.8607:0.1393:0.0	.	61	P07195	LDHB_HUMAN	E	61	ENSP00000379386:G61E;ENSP00000229319:G61E;ENSP00000379385:G61E;ENSP00000398015:G61E;ENSP00000442680:G61E	ENSP00000229319:G61E	G	-	2	0	LDHB	21691165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.756000	0.85195	2.289000	0.77006	0.563000	0.77884	GGA		0.398	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300	
ABCC9	10060	broad.mit.edu	37	12	21962813	21962813	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:21962813T>C	ENST00000261201.4	-	35	4287	c.4288A>G	c.(4288-4290)Atg>Gtg	p.M1430V	ABCC9_ENST00000261200.4_Missense_Mutation_p.M1430V|ABCC9_ENST00000345162.2_Missense_Mutation_p.M1394V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1430	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.M1430V(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GATTTGACCATATTCTTCAGC	0.328																																					p.M1430V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4288G	12						.						97.0	100.0	99.0					12																	21962813		2203	4299	6502	21854080	SO:0001583	missense	10060	exon35			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4288A>G	12.37:g.21962813T>C	ENSP00000261201:p.Met1430Val		21854080	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	4.101	0.016847	0.07959	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.29	4.13	0.48395	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.039691	0.85682	D	0.000000	T	0.66117	0.2757	N	0.01188	-0.97	0.43761	D	0.99627	B;B	0.14012	0.001;0.009	B;B	0.10450	0.004;0.005	T	0.62840	-0.6769	10	0.02654	T	1	-18.5984	9.2637	0.37627	0.2871:0.0:0.0:0.7129	.	1430;1430	O60706;O60706-2	ABCC9_HUMAN;.	V	1430;1057;1430;1394	ENSP00000261200:M1430V;ENSP00000440521:M1057V;ENSP00000261201:M1430V;ENSP00000261202:M1394V	ENSP00000261200:M1430V	M	-	1	0	ABCC9	21854080	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.719000	0.54926	1.005000	0.39183	0.528000	0.53228	ATG		0.328	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ETNK1	55500	broad.mit.edu	37	12	22796773	22796773	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:22796773G>T	ENST00000266517.4	+	2	589	c.500G>T	c.(499-501)aGa>aTa	p.R167I	ETNK1_ENST00000335148.3_Missense_Mutation_p.R167I	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	167					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.R167I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCCTGGTGAGAATTTATGGC	0.398																																					p.R167I	Esophageal Squamous(42;87 913 3224 6226 43339)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500T	12						.						134.0	126.0	128.0					12																	22796773		2203	4300	6503	22688040	SO:0001583	missense	55500	exon2			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.500G>T	12.37:g.22796773G>T	ENSP00000266517:p.Arg167Ile		22688040	NM_018638	G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.658468|4.658468	0.88154|0.88154	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000538218;ENST00000541247|ENST00000266517;ENST00000381409;ENST00000335148	.|T;T	.|0.71222	.|-0.55;-0.55	5.26|5.26	4.33|4.33	0.51752|0.51752	.|Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.88276	.|0.6393	H|H	0.94925|0.94925	3.6|3.6	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	.|D	.|0.91798	.|0.5449	.|10	.|0.87932	.|D	.|0	-11.3931|-11.3931	15.7876|15.7876	0.78319|0.78319	0.0:0.1368:0.8632:0.0|0.0:0.1368:0.8632:0.0	.|.	.|167;167;167	.|E9PD44;Q9HBU6;G5E969	.|.;EKI1_HUMAN;.	X|I	158;47|167	.|ENSP00000266517:R167I;ENSP00000334041:R167I	.|ENSP00000266517:R167I	E|R	+|+	1|2	0|0	ETNK1|ETNK1	22688040|22688040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.946000|8.946000	0.92992|0.92992	1.282000|1.282000	0.44496|0.44496	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.398	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638	
LYRM5	144363	broad.mit.edu	37	12	25356907	25356907	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:25356907C>A	ENST00000381356.4	+	2	176	c.17C>A	c.(16-18)tCt>tAt	p.S6Y	LYRM5_ENST00000555711.1_Missense_Mutation_p.S4Y|LYRM5_ENST00000556885.1_Missense_Mutation_p.S4Y|LYRM5_ENST00000554266.1_Missense_Mutation_p.S4Y|LYRM5_ENST00000557540.2_Missense_Mutation_p.S4Y|LYRM5_ENST00000556927.1_Missense_Mutation_p.S4Y|LYRM5_ENST00000553788.1_Missense_Mutation_p.S4Y|LYRM5_ENST00000556402.1_Missense_Mutation_p.S4Y|LYRM5_ENST00000556351.1_Missense_Mutation_p.S4Y	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	6						mitochondrion (GO:0005739)		p.S6Y(1)		large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			ATGGCCAATTCTTTAAGAGGA	0.239																																					p.S6Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17A	12						.						16.0	14.0	15.0					12																	25356907		1736	3957	5693	25248174	SO:0001583	missense	144363	exon2			AK057730	CCDS53764.1	12p12.1	2006-09-19				ENSG00000205707		"""LYR motif containing"""	27052	protein-coding gene	gene with protein product							Standard	NM_001001660		Approved		uc001rgn.3	Q6IPR1		ENST00000381356.4:c.17C>A	12.37:g.25356907C>A	ENSP00000370761:p.Ser6Tyr		25248174	NM_001001660	J3KPI7	Missense_Mutation	SNP	ENST00000381356.4	37	CCDS53764.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598517	0.87055	.	.	ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000555711;ENST00000556885;ENST00000554266;ENST00000556351;ENST00000556927;ENST00000556402;ENST00000553788;ENST00000556198	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.91	5.91	0.95273	.	0.205804	0.52532	D	0.000062	T	0.40932	0.1137	.	.	.	0.49582	D	0.999804	D;P	0.57571	0.98;0.955	P;P	0.50537	0.641;0.643	T	0.14811	-1.0459	9	0.59425	D	0.04	.	19.2939	0.94114	0.0:1.0:0.0:0.0	.	4;4	Q6IPR1;G3V521	LYRM5_HUMAN;.	Y	4;6;4;4;4;4;4;4;4;4	ENSP00000450584:S4Y;ENSP00000370761:S6Y;ENSP00000451494:S4Y;ENSP00000452146:S4Y;ENSP00000450443:S4Y	ENSP00000370761:S6Y	S	+	2	0	LYRM5	25248174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.050000	0.76620	2.791000	0.96007	0.655000	0.94253	TCT		0.239	LYRM5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001001660	
ITPR2	3709	broad.mit.edu	37	12	26752933	26752933	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:26752933A>C	ENST00000381340.3	-	29	4204	c.3788T>G	c.(3787-3789)tTt>tGt	p.F1263C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1263					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.F1263C(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)	TGGAGTTAAAAACAAATTCAG	0.328																																					p.F1263C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3788G	12						.						83.0	77.0	79.0					12																	26752933		1816	4067	5883	26644200	SO:0001583	missense	3709	exon29			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.3788T>G	12.37:g.26752933A>C	ENSP00000370744:p.Phe1263Cys		26644200	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896023	0.72639	.	.	ENSG00000123104	ENST00000381340	D	0.93547	-3.24	4.24	4.24	0.50183	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.96237	0.8773	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96738	0.9544	10	0.87932	D	0	.	13.7902	0.63135	1.0:0.0:0.0:0.0	.	1263	Q14571	ITPR2_HUMAN	C	1263	ENSP00000370744:F1263C	ENSP00000370744:F1263C	F	-	2	0	ITPR2	26644200	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	7.144000	0.77357	1.916000	0.55485	0.528000	0.53228	TTT		0.328	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26775334	26775334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:26775334C>A	ENST00000381340.3	-	25	3543	c.3127G>T	c.(3127-3129)Gaa>Taa	p.E1043*	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1043					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.E1043*(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)	GGATTTTTTTCTTTTCTATAA	0.373																																					p.E1043X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3127T	12						.						70.0	70.0	70.0					12																	26775334		1839	4093	5932	26666601	SO:0001587	stop_gained	3709	exon25			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.3127G>T	12.37:g.26775334C>A	ENSP00000370744:p.Glu1043*		26666601	NM_002223	O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	46	12.766245	0.99694	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.11	5.11	0.69529	.	0.093586	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.7307	0.91734	0.0:1.0:0.0:0.0	.	.	.	.	X	1043	.	ENSP00000370744:E1043X	E	-	1	0	ITPR2	26666601	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.481000	0.81124	2.659000	0.90383	0.650000	0.86243	GAA		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26834835	26834835	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:26834835T>G	ENST00000381340.3	-	13	1797	c.1381A>C	c.(1381-1383)Aac>Cac	p.N461H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	461					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.N461H(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)	ATTGTGCCGTTTTCTAGCTTT	0.383																																					p.N461H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1381C	12						.						195.0	185.0	188.0					12																	26834835		1840	4096	5936	26726102	SO:0001583	missense	3709	exon13			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.1381A>C	12.37:g.26834835T>G	ENSP00000370744:p.Asn461His		26726102	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728407	0.30593	.	.	ENSG00000123104	ENST00000381340	D	0.89746	-2.56	5.09	2.53	0.30540	.	0.453907	0.25140	N	0.032836	T	0.80193	0.4578	N	0.19112	0.55	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.74757	-0.3557	10	0.49607	T	0.09	.	11.9431	0.52913	0.0:0.0:0.2737:0.7262	.	461	Q14571	ITPR2_HUMAN	H	461	ENSP00000370744:N461H	ENSP00000370744:N461H	N	-	1	0	ITPR2	26726102	0.839000	0.29477	0.904000	0.35570	0.910000	0.53928	1.340000	0.33896	0.917000	0.36895	0.528000	0.53228	AAC		0.383	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ASUN	55726	broad.mit.edu	37	12	27066482	27066482	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:27066482C>A	ENST00000261191.7	-	14	2249	c.1713G>T	c.(1711-1713)aaG>aaT	p.K571N	ASUN_ENST00000539625.1_Missense_Mutation_p.K470N	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	571					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K571N(1)									TTCCTCGTTTCTTTCGTTCTT	0.453																																					p.K571N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1713T	12						.						373.0	348.0	356.0					12																	27066482		2203	4300	6503	26957749	SO:0001583	missense	55726	exon14			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1713G>T	12.37:g.27066482C>A	ENSP00000261191:p.Lys571Asn		26957749	NM_018164	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905974	0.72868	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745;ENST00000261190	T;T;T	0.46063	0.88;0.88;0.88	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.51422	1.61	0.58432	D	0.999997	D;P	0.57571	0.98;0.912	P;P	0.57846	0.828;0.6	T	0.42783	-0.9431	10	0.30854	T	0.27	-19.1321	17.5062	0.87746	0.0:1.0:0.0:0.0	.	571;470	Q9NVM9;B4DNK1	M89BB_HUMAN;.	N	218;571;470;158;68	ENSP00000445645:K218N;ENSP00000261191:K571N;ENSP00000443724:K470N	ENSP00000261190:K68N	K	-	3	2	C12orf11	26957749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.073000	0.50057	2.727000	0.93392	0.591000	0.81541	AAG		0.453	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
ARNTL2	56938	broad.mit.edu	37	12	27556443	27556443	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:27556443G>T	ENST00000266503.5	+	14	1573	c.1555G>T	c.(1555-1557)Gat>Tat	p.D519Y	ARNTL2_ENST00000546179.1_Missense_Mutation_p.D482Y|ARNTL2_ENST00000542388.1_Missense_Mutation_p.D434Y|ARNTL2_ENST00000395901.2_Missense_Mutation_p.D482Y|ARNTL2_ENST00000544915.1_Missense_Mutation_p.D485Y|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.D505Y|ARNTL2_ENST00000261178.5_Missense_Mutation_p.D471Y			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	519					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.D519Y(1)		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)					TATTGGAACAGATATTGCAAA	0.313																																					p.D519Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1555T	12						.						138.0	136.0	137.0					12																	27556443		2203	4300	6503	27447710	SO:0001583	missense	56938	exon14			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.1555G>T	12.37:g.27556443G>T	ENSP00000266503:p.Asp519Tyr		27447710	NM_020183	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.793782|2.793782	0.50102|0.50102	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	3.93|3.93	3.93|3.93	0.45458|0.45458	.|.	0.202398|.	0.42964|.	D|.	0.000622|.	T|T	0.63022|0.63022	0.2476|0.2476	M|M	0.63428|0.63428	1.95|1.95	0.35049|0.35049	D|D	0.760426|0.760426	D;P;D;D;D;P|.	0.69078|.	0.997;0.731;0.98;0.98;0.993;0.883|.	P;P;P;P;P;P|.	0.61592|.	0.891;0.477;0.782;0.782;0.878;0.535|.	T|T	0.70605|0.70605	-0.4826|-0.4826	10|5	0.62326|.	D|.	0.03|.	.|.	10.2351|10.2351	0.43277|0.43277	0.092:0.0:0.908:0.0|0.092:0.0:0.908:0.0	.|.	482;485;482;471;505;519|.	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1|.	.;.;.;.;.;BMAL2_HUMAN|.	Y|H	485;482;482;505;471;519;434|470	ENSP00000442438:D485Y;ENSP00000379238:D482Y;ENSP00000438545:D482Y;ENSP00000312247:D505Y;ENSP00000261178:D471Y;ENSP00000266503:D519Y;ENSP00000445836:D434Y|.	ENSP00000261178:D471Y|.	D|Q	+|+	1|3	0|2	ARNTL2|ARNTL2	27447710|27447710	0.987000|0.987000	0.35691|0.35691	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.683000|1.683000	0.37638|0.37638	2.198000|2.198000	0.70561|0.70561	0.563000|0.563000	0.77884|0.77884	GAT|CAG		0.313	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183	
KLHL42	57542	broad.mit.edu	37	12	27944794	27944794	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:27944794T>C	ENST00000381271.2	+	2	1337	c.1026T>C	c.(1024-1026)tgT>tgC	p.C342C		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	342					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.C342C(1)									CCTGTGAGTGTAAGGGAAAAA	0.517																																					p.C342C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1026C	12						.						135.0	135.0	135.0					12																	27944794		2203	4300	6503	27836061	SO:0001819	synonymous_variant	57542	exon2			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1026T>C	12.37:g.27944794T>C			27836061	NM_020782	Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	T	9.601	1.128705	0.21041	.	.	ENSG00000087448	ENST00000543254	.	.	.	4.86	-0.238	0.13055	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0719	0.42339	0.0:0.554:0.0:0.446	.	.	.	.	Q	164	.	.	X	+	1	0	KLHDC5	27836061	0.997000	0.39634	0.993000	0.49108	0.966000	0.64601	0.471000	0.22100	-0.201000	0.10284	-1.167000	0.01749	TAA		0.517	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
CCDC91	55297	broad.mit.edu	37	12	28515376	28515376	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:28515376A>G	ENST00000545336.1	+	10	1001	c.582A>G	c.(580-582)aaA>aaG	p.K194K	CCDC91_ENST00000381259.1_Silent_p.K194K|CCDC91_ENST00000381256.1_Silent_p.K194K|CCDC91_ENST00000539107.1_Silent_p.K194K|CCDC91_ENST00000306172.5_Silent_p.K164K|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	194					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K194K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTCAGGAAAAACATAAACAAG	0.333																																					p.K194K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A582G	12						.						76.0	80.0	79.0					12																	28515376		2203	4298	6501	28406643	SO:0001819	synonymous_variant	55297	exon6			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.582A>G	12.37:g.28515376A>G			28406643	NM_018318	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Silent	SNP	ENST00000545336.1	37	CCDS8716.1																																																																																				0.333	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	
OVCH1	341350	broad.mit.edu	37	12	29598225	29598225	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:29598225A>G	ENST00000318184.5	-	23	2866	c.2867T>C	c.(2866-2868)gTc>gCc	p.V956A	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	956	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V956A(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)					GACTTTCAAGACAATATAGCT	0.358																																					p.V956A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2867C	12						.						97.0	92.0	93.0					12																	29598225		1839	4088	5927	29489492	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.2867T>C	12.37:g.29598225A>G	ENSP00000326708:p.Val956Ala		29489492	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	A	0.298	-0.975719	0.02215	.	.	ENSG00000187950	ENST00000318184	D	0.86297	-2.1	2.44	2.44	0.29823	.	.	.	.	.	T	0.70798	0.3265	N	0.08118	0	0.19575	N	0.999968	.	.	.	.	.	.	T	0.59010	-0.7534	7	0.16896	T	0.51	.	6.8438	0.23977	1.0:0.0:0.0:0.0	.	.	.	.	A	956	ENSP00000326708:V956A	ENSP00000326708:V956A	V	-	2	0	OVCH1	29489492	0.395000	0.25254	0.979000	0.43373	0.197000	0.23852	3.128000	0.50492	1.400000	0.46741	0.533000	0.62120	GTC		0.358	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
OVCH1	341350	broad.mit.edu	37	12	29624802	29624802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:29624802C>T	ENST00000318184.5	-	16	1788	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	597	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.D597N(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)					CATTGGTAATCGCCTAGAAAC	0.522																																					p.D597N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1789A	12						.						60.0	62.0	62.0					12																	29624802		1993	4159	6152	29516069	SO:0001583	missense	341350	exon16			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.1789G>A	12.37:g.29624802C>T	ENSP00000326708:p.Asp597Asn		29516069	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	6.275	0.418919	0.11870	.	.	ENSG00000187950	ENST00000318184	D	0.88431	-2.38	2.31	0.215	0.15253	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.68869	0.3048	N	0.04805	-0.155	0.09310	N	1	B	0.29646	0.253	B	0.13407	0.009	T	0.57551	-0.7792	9	0.16896	T	0.51	.	3.7965	0.08741	0.236:0.5998:0.0:0.1642	.	597	Q7RTY7	OVCH1_HUMAN	N	597	ENSP00000326708:D597N	ENSP00000326708:D597N	D	-	1	0	OVCH1	29516069	0.001000	0.12720	0.009000	0.14445	0.939000	0.58152	1.062000	0.30555	0.034000	0.15491	0.655000	0.94253	GAT		0.522	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
OVCH1	341350	broad.mit.edu	37	12	29639218	29639218	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:29639218G>T	ENST00000318184.5	-	8	955	c.956C>A	c.(955-957)tCt>tAt	p.S319Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	319	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S319Y(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)					TTCTTGGACAGAACTCAGGGC	0.448																																					p.S319Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C956A	12						.						101.0	96.0	97.0					12																	29639218		1835	4091	5926	29530485	SO:0001583	missense	341350	exon8			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.956C>A	12.37:g.29639218G>T	ENSP00000326708:p.Ser319Tyr		29530485	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	10.27	1.303399	0.23736	.	.	ENSG00000187950	ENST00000318184	D	0.86627	-2.15	1.94	1.02	0.19986	.	.	.	.	.	T	0.78355	0.4270	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.53760	0.734	T	0.67488	-0.5658	9	0.39692	T	0.17	.	4.2497	0.10689	0.2089:0.0:0.7911:0.0	.	319	Q7RTY7	OVCH1_HUMAN	Y	319	ENSP00000326708:S319Y	ENSP00000326708:S319Y	S	-	2	0	OVCH1	29530485	0.010000	0.17322	0.007000	0.13788	0.071000	0.16799	-0.107000	0.10873	0.359000	0.24239	0.563000	0.77884	TCT		0.448	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
OVCH1	341350	broad.mit.edu	37	12	29649520	29649520	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:29649520C>A	ENST00000318184.5	-	2	151	c.152G>T	c.(151-153)aGa>aTa	p.R51I		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	51	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R51I(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)					TGTTGAATTTCTCCAACTACT	0.403																																					p.R51I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G152T	12						.						119.0	115.0	116.0					12																	29649520		1871	4094	5965	29540787	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.152G>T	12.37:g.29649520C>A	ENSP00000326708:p.Arg51Ile		29540787	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	15.41	2.825288	0.50739	.	.	ENSG00000187950	ENST00000318184	D	0.92805	-3.11	2.89	1.97	0.26223	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	.	.	.	.	D	0.88764	0.6525	L	0.33293	1	0.09310	N	1	D	0.55172	0.97	P	0.50825	0.651	T	0.79147	-0.1923	9	0.36615	T	0.2	.	7.1236	0.25458	0.2676:0.7324:0.0:0.0	.	51	Q7RTY7	OVCH1_HUMAN	I	51	ENSP00000326708:R51I	ENSP00000326708:R51I	R	-	2	0	OVCH1	29540787	0.096000	0.21769	0.022000	0.16811	0.662000	0.39071	1.971000	0.40530	0.770000	0.33336	0.561000	0.74099	AGA		0.403	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
TMTC1	83857	broad.mit.edu	37	12	29904673	29904673	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:29904673G>A	ENST00000539277.1	-	5	922	c.864C>T	c.(862-864)tgC>tgT	p.C288C	TMTC1_ENST00000381224.2_Silent_p.C180C|TMTC1_ENST00000552618.1_Silent_p.C288C|TMTC1_ENST00000551659.1_Silent_p.C288C|TMTC1_ENST00000256062.5_Silent_p.C180C	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	288						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.C180C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTGGAGAGTGGCAGCCACCCC	0.627																																					p.C288C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	12						.						80.0	75.0	77.0					12																	29904673		2203	4300	6503	29795940	SO:0001819	synonymous_variant	83857	exon5				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.864C>T	12.37:g.29904673G>A			29795940	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	CCDS53772.1																																																																																				0.627	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
IPO8	10526	broad.mit.edu	37	12	30787095	30787095	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:30787095C>T	ENST00000256079.4	-	23	3159	c.2821G>A	c.(2821-2823)Gcg>Acg	p.A941T	IPO8_ENST00000544829.1_Missense_Mutation_p.A736T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	941					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			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)					CCCTCAAGCGCGGTTTCTTCC	0.418																																					p.A941T												.	.	0			c.G2821A	12						.						252.0	195.0	214.0					12																	30787095		2203	4300	6503	30678362	SO:0001583	missense	10526	exon23			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.2821G>A	12.37:g.30787095C>T	ENSP00000256079:p.Ala941Thr		30678362	NM_006390	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939541	0.52972	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.68181	-0.31;-0.31	5.22	4.32	0.51571	Armadillo-type fold (1);	0.155292	0.64402	N	0.000019	T	0.65544	0.2701	M	0.64170	1.965	0.41466	D	0.988072	P;D;P	0.60575	0.944;0.988;0.752	P;P;B	0.46975	0.533;0.51;0.1	T	0.64141	-0.6477	10	0.15499	T	0.54	-7.8189	13.7243	0.62748	0.0:0.9254:0.0:0.0745	.	736;417;941	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	T	941;417;736	ENSP00000256079:A941T;ENSP00000444520:A736T	ENSP00000256079:A941T	A	-	1	0	IPO8	30678362	0.998000	0.40836	0.984000	0.44739	0.723000	0.41478	3.279000	0.51670	1.315000	0.45114	0.655000	0.94253	GCG		0.418	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
IPO8	10526	broad.mit.edu	37	12	30837302	30837302	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:30837302C>T	ENST00000256079.4	-	3	594	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	IPO8_ENST00000538338.1_5'Flank	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	86	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.E86K(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)					CGATCGTTTTCGTGAATGTTG	0.413																																					p.E86K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256A	12						.						311.0	268.0	282.0					12																	30837302		2203	4300	6503	30728569	SO:0001583	missense	10526	exon3			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.256G>A	12.37:g.30837302C>T	ENSP00000256079:p.Glu86Lys		30728569	NM_006390	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410251	0.96072	.	.	ENSG00000133704	ENST00000256079;ENST00000535989;ENST00000543446;ENST00000358724	T;T;T	0.68903	-0.36;-0.36;-0.36	3.71	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.114844	0.64402	D	0.000020	D	0.82678	0.5089	M	0.89353	3.025	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	D	0.85961	0.1470	10	0.49607	T	0.09	-15.844	16.763	0.85517	0.0:1.0:0.0:0.0	.	86	O15397	IPO8_HUMAN	K	86;24;63;24	ENSP00000256079:E86K;ENSP00000440979:E24K;ENSP00000439413:E63K	ENSP00000256079:E86K	E	-	1	0	IPO8	30728569	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.293000	0.78740	2.365000	0.80145	0.585000	0.79938	GAA		0.413	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
CAPRIN2	65981	broad.mit.edu	37	12	30863230	30863230	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:30863230C>T	ENST00000298892.5	-	17	3590	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R997Q|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R663Q|CAPRIN2_ENST00000395805.2_3'UTR	NM_023925.3	NP_076414.2			caprin family member 2									p.R997Q(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)					GAAGGCAACTCGCATCTGCTG	0.502																																					p.R997Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2990A	12						.						160.0	160.0	160.0					12																	30863230		2203	4300	6503	30754497	SO:0001583	missense	65981	exon18			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	ENST00000298892.5:c.2840G>A	12.37:g.30863230C>T	ENSP00000298892:p.Arg947Gln		30754497	NM_001002259		Missense_Mutation	SNP	ENST00000298892.5	37	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549101	0.96488	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	D;D;D	0.85955	-2.05;-2.05;-2.05	5.7	5.7	0.88788	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	N	0.25031	0.7	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.89792	0.3969	10	0.87932	D	0	-9.0489	19.8253	0.96616	0.0:1.0:0.0:0.0	.	997;947	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	Q	947;997;663	ENSP00000298892:R947Q;ENSP00000251071:R997Q;ENSP00000309785:R663Q	ENSP00000251071:R997Q	R	-	2	0	CAPRIN2	30754497	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.619000	0.83057	2.682000	0.91365	0.655000	0.94253	CGA		0.502	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925	
DENND5B	160518	broad.mit.edu	37	12	31605076	31605076	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:31605076G>T	ENST00000389082.5	-	5	1691	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y	DENND5B_ENST00000536562.1_Missense_Mutation_p.S511Y|DENND5B_ENST00000354285.4_Missense_Mutation_p.S498Y|DENND5B_ENST00000306833.6_Missense_Mutation_p.S511Y|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	476					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S476Y(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCACCCAGAGAAGCAGAGAG	0.483																																					p.S476Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1427A	12						.						160.0	161.0	161.0					12																	31605076		1936	4143	6079	31496343	SO:0001583	missense	160518	exon5			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1427C>A	12.37:g.31605076G>T	ENSP00000373734:p.Ser476Tyr		31496343	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956882	0.53293	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.94	2.89	0.33648	.	1.139740	0.06431	N	0.724071	T	0.46171	0.1379	L	0.29908	0.895	0.09310	N	1	P;P;B;P	0.47604	0.676;0.824;0.245;0.898	P;P;B;P	0.46110	0.477;0.504;0.163;0.477	T	0.50533	-0.8817	10	0.51188	T	0.08	-20.4301	14.8227	0.70085	0.0:0.249:0.751:0.0	.	398;498;476;511	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	Y	476;511;511;498;428	ENSP00000373734:S476Y;ENSP00000306482:S511Y;ENSP00000444889:S511Y;ENSP00000346238:S498Y;ENSP00000442938:S428Y	ENSP00000306482:S511Y	S	-	2	0	DENND5B	31496343	0.001000	0.12720	0.020000	0.16555	0.936000	0.57629	1.039000	0.30266	2.267000	0.75376	0.563000	0.77884	TCT		0.483	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
KIAA1551	55196	broad.mit.edu	37	12	32136105	32136105	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:32136105C>T	ENST00000312561.4	+	4	2630	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	739								p.S739L(1)									ACAGCTTTGTCGATGGTAATG	0.388																																					p.S739L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2216T	12						.						70.0	70.0	70.0					12																	32136105		2203	4300	6503	32027372	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.2216C>T	12.37:g.32136105C>T	ENSP00000310338:p.Ser739Leu		32027372	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999450	0.74818	.	.	ENSG00000174718	ENST00000312561	T	0.18338	2.22	5.05	5.05	0.67936	.	0.574639	0.14618	N	0.308612	T	0.32556	0.0833	L	0.60455	1.87	0.09310	N	1	D	0.69078	0.997	P	0.54629	0.757	T	0.09058	-1.0692	9	.	.	.	.	16.5837	0.84722	0.0:1.0:0.0:0.0	.	739	Q9HCM1	CL035_HUMAN	L	739	ENSP00000310338:S739L	.	S	+	2	0	C12orf35	32027372	0.152000	0.22762	0.018000	0.16275	0.008000	0.06430	4.419000	0.59835	2.491000	0.84063	0.557000	0.71058	TCG		0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
BICD1	636	broad.mit.edu	37	12	32480519	32480519	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:32480519C>T	ENST00000281474.5	+	5	1233	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V	BICD1_ENST00000548411.1_Missense_Mutation_p.A377V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	377					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.A377V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CACGTCAATGCCATGAGGGGC	0.617																																					p.A377V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1130T	12						.						52.0	48.0	49.0					12																	32480519		2203	4300	6503	32371786	SO:0001583	missense	636	exon5			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1130C>T	12.37:g.32480519C>T	ENSP00000281474:p.Ala377Val		32371786	NM_001003398	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362425	0.82353	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.49432	0.78;0.78	5.31	5.31	0.75309	.	0.125043	0.53938	D	0.000059	T	0.56396	0.1982	M	0.73217	2.22	0.80722	D	1	P;P	0.49185	0.822;0.92	B;P	0.45712	0.359;0.491	T	0.62034	-0.6939	10	0.56958	D	0.05	.	19.3429	0.94350	0.0:1.0:0.0:0.0	.	377;377	F8W113;Q96G01	.;BICD1_HUMAN	V	377	ENSP00000446793:A377V;ENSP00000281474:A377V	ENSP00000281474:A377V	A	+	2	0	BICD1	32371786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.828000	0.69307	2.649000	0.89929	0.650000	0.86243	GCC		0.617	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
BICD1	636	broad.mit.edu	37	12	32481355	32481355	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:32481355G>T	ENST00000281474.5	+	5	2069	c.1966G>T	c.(1966-1968)Gct>Tct	p.A656S	BICD1_ENST00000548411.1_Missense_Mutation_p.A656S	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	656					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.A656S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAGAGCAGCGGCTCGGGAGCT	0.498																																					p.A656S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1966T	12						.						77.0	82.0	80.0					12																	32481355		2203	4300	6503	32372622	SO:0001583	missense	636	exon5			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1966G>T	12.37:g.32481355G>T	ENSP00000281474:p.Ala656Ser		32372622	NM_001003398	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146379	0.37923	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.48201	0.82;0.82	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	N	0.10972	0.075	0.80722	D	1	P;P	0.48834	0.513;0.916	B;B	0.42555	0.103;0.391	T	0.11275	-1.0594	10	0.09338	T	0.73	.	18.4173	0.90575	0.0:0.0:1.0:0.0	.	656;656	F8W113;Q96G01	.;BICD1_HUMAN	S	656	ENSP00000446793:A656S;ENSP00000281474:A656S	ENSP00000281474:A656S	A	+	1	0	BICD1	32372622	1.000000	0.71417	0.832000	0.32986	0.827000	0.46813	9.611000	0.98342	2.333000	0.79357	0.655000	0.94253	GCT		0.498	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
BICD1	636	broad.mit.edu	37	12	32530522	32530522	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:32530522C>T	ENST00000281474.5	+	10	2992	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C	BICD1_ENST00000548411.1_3'UTR	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	963					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.C963C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCTCCCAGTGCGCCCCTCTCC	0.547																																					p.C963C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2889T	12						.						169.0	143.0	152.0					12																	32530522		2203	4300	6503	32421789	SO:0001819	synonymous_variant	636	exon10			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2889C>T	12.37:g.32530522C>T			32421789	NM_001714	A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	CCDS8726.1																																																																																				0.547	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
FGD4	121512	broad.mit.edu	37	12	32791722	32791722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:32791722C>T	ENST00000427716.2	+	16	2460	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	FGD4_ENST00000525053.1_Missense_Mutation_p.A791V|FGD4_ENST00000534526.2_Missense_Mutation_p.A816V|FGD4_ENST00000531134.1_Missense_Mutation_p.A764V|FGD4_ENST00000546442.1_Missense_Mutation_p.A586V|FGD4_ENST00000266482.3_Missense_Mutation_p.A431V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	679	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ATGTATGGTGCCCCCCAGGTA	0.502																																					p.A679V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2036T	12						.						125.0	111.0	116.0					12																	32791722		2203	4300	6503	32682989	SO:0001583	missense	121512	exon16			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2036C>T	12.37:g.32791722C>T	ENSP00000394487:p.Ala679Val		32682989	NM_139241	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149757	0.94645	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	T;T;T;T;T;T	0.73897	2.68;2.68;2.68;-0.79;2.68;2.68	5.18	5.18	0.71444	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000130	D	0.87752	0.6256	M	0.85197	2.74	0.80722	D	1	P;P;D;D	0.76494	0.899;0.899;0.999;0.999	P;P;D;D	0.71184	0.824;0.824;0.972;0.948	D	0.89771	0.3954	10	0.87932	D	0	-12.2502	18.7193	0.91687	0.0:1.0:0.0:0.0	.	791;764;679;431	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	V	816;764;679;431;586;791	ENSP00000449273:A816V;ENSP00000431323:A764V;ENSP00000394487:A679V;ENSP00000266482:A431V;ENSP00000446695:A586V;ENSP00000433666:A791V	ENSP00000266482:A431V	A	+	2	0	FGD4	32682989	1.000000	0.71417	0.793000	0.32043	0.786000	0.44442	7.288000	0.78691	2.397000	0.81536	0.655000	0.94253	GCC		0.502	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	
KIF21A	55605	broad.mit.edu	37	12	39688263	39688263	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:39688263T>C	ENST00000361418.5	-	38	5003	c.4988A>G	c.(4987-4989)gAc>gGc	p.D1663G	KIF21A_ENST00000395670.3_Missense_Mutation_p.D1664G|KIF21A_ENST00000544797.2_Missense_Mutation_p.D1626G|KIF21A_ENST00000361961.3_Missense_Mutation_p.D1650G|KIF21A_ENST00000541463.2_Missense_Mutation_p.D1610G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1663					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.D1650G(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)				ATCTCCTGTGTCAGAGATCTG	0.363																																					p.D1610G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4829G	12						.						110.0	104.0	106.0					12																	39688263		2203	4300	6503	37974530	SO:0001583	missense	55605	exon34			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.4988A>G	12.37:g.39688263T>C	ENSP00000354878:p.Asp1663Gly		37974530	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.050335|4.050335	0.75846|0.75846	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T;T|.	0.70516|.	-0.49;-0.46;0.36;-0.48;-0.4;-0.46|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.50627|.	D|.	0.000117|.	T|T	0.60869|0.60869	0.2302|0.2302	L|L	0.44542|0.44542	1.39|1.39	0.43489|0.43489	D|D	0.995728|0.995728	P;D;D;D;B;D|.	0.71674|.	0.906;0.996;0.993;0.998;0.015;0.969|.	P;D;P;D;B;P|.	0.78314|.	0.52;0.981;0.793;0.991;0.007;0.71|.	T|T	0.58405|0.58405	-0.7642|-0.7642	10|5	0.72032|.	D|.	0.01|.	.|.	14.9803|14.9803	0.71306|0.71306	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1626;1610;1663;1650;1616;650|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	G|A	1650;1664;1616;650;644;1626;1663;1610|964	ENSP00000354851:D1650G;ENSP00000379029:D1664G;ENSP00000448792:D644G;ENSP00000445606:D1626G;ENSP00000354878:D1663G;ENSP00000438075:D1610G|.	ENSP00000344501:D1616G|.	D|T	-|-	2|1	0|0	KIF21A|KIF21A	37974530|37974530	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.994000|0.994000	0.84299|0.84299	5.671000|5.671000	0.68095|0.68095	1.941000|1.941000	0.56285|0.56285	0.528000|0.528000	0.53228|0.53228	GAC|ACA		0.363	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
ABCD2	225	broad.mit.edu	37	12	39967561	39967561	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:39967561C>T	ENST00000308666.3	-	9	2095	c.1960G>A	c.(1960-1962)Gct>Act	p.A654T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	654	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.A654T(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						GAAATTCCAGCCCCTTTTGCA	0.378																																					p.A654T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1960A	12						.						124.0	110.0	115.0					12																	39967561		2203	4300	6503	38253828	SO:0001583	missense	225	exon9			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.1960G>A	12.37:g.39967561C>T	ENSP00000310688:p.Ala654Thr		38253828	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282030	0.59867	.	.	ENSG00000173208	ENST00000308666	D	0.99848	-7.14	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.128515	0.51477	D	0.000082	D	0.98975	0.9651	L	0.29908	0.895	0.53005	D	0.999967	B	0.32620	0.378	B	0.32677	0.15	D	0.99982	1.2729	9	.	.	.	-3.3759	18.7232	0.91703	0.0:1.0:0.0:0.0	.	654	Q9UBJ2	ABCD2_HUMAN	T	654	ENSP00000310688:A654T	.	A	-	1	0	ABCD2	38253828	0.998000	0.40836	0.996000	0.52242	0.997000	0.91878	3.870000	0.56070	2.482000	0.83794	0.563000	0.77884	GCT		0.378	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
ABCD2	225	broad.mit.edu	37	12	40013210	40013210	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:40013210C>T	ENST00000308666.3	-	1	343	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	70	Interaction with PEX19.				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)			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						CAAATGGTCTCGGTGCAATGC	0.438																																					p.E70K												.	.	0			c.G208A	12						.						138.0	140.0	139.0					12																	40013210		2203	4300	6503	38299477	SO:0001583	missense	225	exon1			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.208G>A	12.37:g.40013210C>T	ENSP00000310688:p.Glu70Lys		38299477	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	7.553	0.663091	0.14710	.	.	ENSG00000173208	ENST00000308666	D	0.94280	-3.39	4.89	4.89	0.63831	.	0.390197	0.28635	N	0.014651	D	0.84705	0.5531	N	0.08118	0	0.32536	N	0.534276	B	0.20052	0.041	B	0.10450	0.005	T	0.81079	-0.1095	9	.	.	.	-17.338	15.4062	0.74881	0.0:1.0:0.0:0.0	.	70	Q9UBJ2	ABCD2_HUMAN	K	70	ENSP00000310688:E70K	.	E	-	1	0	ABCD2	38299477	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	1.586000	0.36611	2.542000	0.85734	0.655000	0.94253	GAG		0.438	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
LRRK2	120892	broad.mit.edu	37	12	40626106	40626106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:40626106G>T	ENST00000298910.7	+	3	326	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.E90*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	90					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.E90*(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)				CAAATTAATAGAAGTCTGTCC	0.373																																					p.E90X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G268T	12						.						129.0	128.0	128.0					12																	40626106		2203	4300	6503	38912373	SO:0001587	stop_gained	120892	exon3			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.268G>T	12.37:g.40626106G>T	ENSP00000298910:p.Glu90*		38912373	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601583	0.96614	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0984	0.93263	0.0:0.0:1.0:0.0	.	.	.	.	X	19;90;90	.	ENSP00000298910:E90X	E	+	1	0	LRRK2	38912373	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.743000	0.85020	2.794000	0.96219	0.650000	0.86243	GAA		0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
CNTN1	1272	broad.mit.edu	37	12	41374852	41374852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:41374852delG	ENST00000551295.2	+	16	2063	c.1946delG	c.(1945-1947)tggfs	p.W649fs	CNTN1_ENST00000347616.1_Frame_Shift_Del_p.W649fs|CNTN1_ENST00000348761.2_Frame_Shift_Del_p.W638fs	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	649	Fibronectin type-III 1. {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.W649fs*1(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)				TCAGATGACTGGAAAGATGCA	0.363																																					p.W638X												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1913delG	12						.						118.0	122.0	121.0					12																	41374852		2203	4300	6503	39661119	SO:0001589	frameshift_variant	1272	exon15			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.1946delG	12.37:g.41374852delG	ENSP00000447006:p.Trp649fs		39661119	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Frame_Shift_Del	DEL	ENST00000551295.2	37	CCDS8737.1																																																																																				0.363	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
PDZRN4	29951	broad.mit.edu	37	12	41966886	41966886	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:41966886A>G	ENST00000402685.2	+	10	2313	c.2305A>G	c.(2305-2307)Aag>Gag	p.K769E	PDZRN4_ENST00000298919.7_Missense_Mutation_p.K509E|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K511E	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	769							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K511E(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)				CCTCACCAATAAGAAAAACCT	0.512																																					p.K769E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2305G	12						.						98.0	97.0	97.0					12																	41966886		2203	4300	6503	40253153	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.2305A>G	12.37:g.41966886A>G	ENSP00000384197:p.Lys769Glu		40253153	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	5.316	0.243568	0.10077	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.71579	-0.58;3.89;3.89	5.34	2.75	0.32379	.	0.496019	0.20619	N	0.088805	T	0.59459	0.2195	L	0.55481	1.735	0.36752	D	0.88283	B;B;B	0.16396	0.017;0.002;0.002	B;B;B	0.15484	0.013;0.008;0.008	T	0.55579	-0.8119	10	0.05436	T	0.98	-27.0096	12.2494	0.54589	0.7328:0.2672:0.0:0.0	.	769;509;511	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	E	769;511;509	ENSP00000384197:K769E;ENSP00000439990:K511E;ENSP00000298919:K509E	ENSP00000298919:K509E	K	+	1	0	PDZRN4	40253153	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.076000	0.50081	1.084000	0.41184	0.528000	0.53228	AAG		0.512	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
ZCRB1	85437	broad.mit.edu	37	12	42707740	42707740	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:42707740G>A	ENST00000266529.3	-	6	565	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.R87C	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	128					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R128C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		GGAGGCTCACGTTCTCCGAGC	0.318																																					p.R128C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C382T	12						.						73.0	72.0	72.0					12																	42707740		2203	4300	6503	40994007	SO:0001583	missense	85437	exon6			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.382C>T	12.37:g.42707740G>A	ENSP00000266529:p.Arg128Cys		40994007	NM_033114	Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	37	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353117	0.82132	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	T;T;T	0.58506	2.2;0.33;0.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.77772	0.4180	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.66084	0.941	T	0.80395	-0.1400	10	0.87932	D	0	-14.9181	19.5768	0.95447	0.0:0.0:1.0:0.0	.	128	Q8TBF4	ZCRB1_HUMAN	C	128;87;87	ENSP00000266529:R128C;ENSP00000446732:R87C;ENSP00000448780:R87C	ENSP00000266529:R128C	R	-	1	0	ZCRB1	40994007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.732000	0.74790	2.644000	0.89710	0.556000	0.70494	CGT		0.318	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114	
PRICKLE1	144165	broad.mit.edu	37	12	42858963	42858963	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:42858963A>G	ENST00000455697.1	-	7	1158	c.873T>C	c.(871-873)tgT>tgC	p.C291C	PRICKLE1_ENST00000552240.1_Silent_p.C291C|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Silent_p.C291C|PRICKLE1_ENST00000548696.1_Silent_p.C291C|PRICKLE1_ENST00000345127.3_Silent_p.C291C	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	291	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C291C(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAGGAAGGGACATCCCAACA	0.522																																					p.C291C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T873C	12						.						84.0	84.0	84.0					12																	42858963		2203	4300	6503	41145230	SO:0001819	synonymous_variant	144165	exon7			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.873T>C	12.37:g.42858963A>G			41145230	NM_001144882	Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	37	CCDS8742.1																																																																																				0.522	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
PRICKLE1	144165	broad.mit.edu	37	12	42860178	42860178	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:42860178A>C	ENST00000455697.1	-	6	878	c.593T>G	c.(592-594)aTt>aGt	p.I198S	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.I198S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.I198S|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.I198S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.I198S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	198	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I198S(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ATCAGCAAAAATTATCTTCAA	0.428																																					p.I198S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T593G	12						.						57.0	55.0	56.0					12																	42860178		2203	4300	6503	41146445	SO:0001583	missense	144165	exon6			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.593T>G	12.37:g.42860178A>C	ENSP00000401060:p.Ile198Ser		41146445	NM_001144882	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472622	0.84640	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0	5.18	5.18	0.71444	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.97993	0.9339	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99655	1.0992	10	0.87932	D	0	-10.2448	15.3353	0.74247	1.0:0.0:0.0:0.0	.	198	Q96MT3	PRIC1_HUMAN	S	198	ENSP00000401060:I198S;ENSP00000398947:I198S;ENSP00000448359:I198S;ENSP00000345064:I198S;ENSP00000449819:I198S	ENSP00000345064:I198S	I	-	2	0	PRICKLE1	41146445	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.287000	0.95975	2.094000	0.63399	0.459000	0.35465	ATT		0.428	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
ADAMTS20	80070	broad.mit.edu	37	12	43833714	43833714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:43833714C>A	ENST00000389420.3	-	17	2448	c.2449G>T	c.(2449-2451)Gaa>Taa	p.E817*	ADAMTS20_ENST00000395541.2_5'Flank|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E817*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	817	Spacer.				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.E817*(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)		AAAATAAGTTCTTTCTCTTGT	0.279																																					p.E817X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2449T	12						.						90.0	84.0	86.0					12																	43833714		2201	4297	6498	42119981	SO:0001587	stop_gained	80070	exon17			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.2449G>T	12.37:g.43833714C>A	ENSP00000374071:p.Glu817*		42119981	NM_025003	A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	40	8.024083	0.98616	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	5.44	3.61	0.41365	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.6337	0.56671	0.0:0.8633:0.0:0.1367	.	.	.	.	X	817	.	ENSP00000374068:E817X	E	-	1	0	ADAMTS20	42119981	1.000000	0.71417	0.607000	0.28956	0.725000	0.41563	5.740000	0.68629	0.930000	0.37217	0.650000	0.86243	GAA		0.279	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
PUS7L	83448	broad.mit.edu	37	12	44148691	44148691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:44148691C>A	ENST00000416848.2	-	2	846	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	PUS7L_ENST00000553166.1_Nonsense_Mutation_p.E120*|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Nonsense_Mutation_p.E120*|PUS7L_ENST00000551923.1_Nonsense_Mutation_p.E120*	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	120					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.E120*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCAGCTTTTTCTTCACATTTG	0.348																																					p.E120X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G358T	12						.						85.0	83.0	84.0					12																	44148691		2203	4300	6503	42434958	SO:0001587	stop_gained	83448	exon2			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.358G>T	12.37:g.44148691C>A	ENSP00000415899:p.Glu120*		42434958	NM_001098615	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Nonsense_Mutation	SNP	ENST00000416848.2	37	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	C	40	8.404329	0.98796	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166;ENST00000549868	.	.	.	5.26	5.26	0.73747	.	0.557126	0.19704	N	0.107980	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.0973	19.3449	0.94359	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000343081:E120X	E	-	1	0	PUS7L	42434958	0.935000	0.31712	0.990000	0.47175	0.848000	0.48234	3.492000	0.53259	2.847000	0.97988	0.591000	0.81541	GAA		0.348	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292	
IRAK4	51135	broad.mit.edu	37	12	44166753	44166753	+	Missense_Mutation	SNP	A	A	G	rs141209982	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:44166753A>G	ENST00000448290.2	+	5	600	c.529A>G	c.(529-531)Aca>Gca	p.T177A	IRAK4_ENST00000440781.2_Missense_Mutation_p.T53A|IRAK4_ENST00000431837.1_Missense_Mutation_p.T53A|IRAK4_ENST00000551736.1_Missense_Mutation_p.T177A	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	177					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T177A(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		GAAGAATGTCACAAATAACTT	0.279																																					p.T177A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A529G	12						.	A	ALA/THR,ALA/THR,ALA/THR,ALA/THR,ALA/THR	2,4404	4.2+/-10.8	0,2,2201	68.0	68.0	68.0		529,157,157,157,529	5.2	1.0	12	dbSNP_134	68	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense	IRAK4	NM_001114182.2,NM_001145256.1,NM_001145257.1,NM_001145258.1,NM_016123.3	58,58,58,58,58	0,6,6497	GG,GA,AA		0.0465,0.0454,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	177/461,53/337,53/337,53/337,177/461	44166753	6,13000	2203	4300	6503	42453020	SO:0001583	missense	51135	exon5			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.529A>G	12.37:g.44166753A>G	ENSP00000390651:p.Thr177Ala		42453020	NM_016123	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501376	0.85176	4.54E-4	4.65E-4	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.17	5.17	0.71159	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96081	0.8723	M	0.78049	2.395	0.80722	D	1	D	0.54397	0.966	P	0.61874	0.895	D	0.96642	0.9475	10	0.87932	D	0	-18.5873	15.3043	0.73979	1.0:0.0:0.0:0.0	.	177	Q9NWZ3	IRAK4_HUMAN	A	53;53;177;177;177	ENSP00000408734:T53A;ENSP00000390327:T53A;ENSP00000390651:T177A;ENSP00000446490:T177A	ENSP00000349096:T177A	T	+	1	0	IRAK4	42453020	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.184000	0.89702	2.080000	0.62538	0.533000	0.62120	ACA		0.279	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1		
IRAK4	51135	broad.mit.edu	37	12	44176244	44176244	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:44176244C>T	ENST00000448290.2	+	9	1147	c.1076C>T	c.(1075-1077)gCt>gTt	p.A359V	IRAK4_ENST00000440781.2_Missense_Mutation_p.A235V|IRAK4_ENST00000431837.1_Missense_Mutation_p.A235V|IRAK4_ENST00000551736.1_Missense_Mutation_p.A359V	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A359V(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		GCACCAGAAGCTTTGCGTGGA	0.388																																					p.A359V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1076T	12						.						74.0	74.0	74.0					12																	44176244		2203	4300	6503	42462511	SO:0001583	missense	51135	exon9			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1076C>T	12.37:g.44176244C>T	ENSP00000390651:p.Ala359Val		42462511	NM_016123	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508869	0.96386	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	L	0.33293	1	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71603	-0.4543	10	0.87932	D	0	-23.5912	19.6622	0.95877	0.0:1.0:0.0:0.0	.	359	Q9NWZ3	IRAK4_HUMAN	V	235;235;359;359	ENSP00000408734:A235V;ENSP00000390327:A235V;ENSP00000390651:A359V;ENSP00000446490:A359V	ENSP00000390327:A235V	A	+	2	0	IRAK4	42462511	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.637000	0.89404	0.585000	0.79938	GCT		0.388	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1		
NELL2	4753	broad.mit.edu	37	12	44902732	44902732	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:44902732G>A	ENST00000429094.2	-	20	2940	c.2436C>T	c.(2434-2436)tgC>tgT	p.C812C	NELL2_ENST00000549027.1_Silent_p.C811C|NELL2_ENST00000333837.4_Silent_p.C835C|NELL2_ENST00000437801.2_Silent_p.C862C|NELL2_ENST00000551601.1_Silent_p.C764C|NELL2_ENST00000452445.2_Silent_p.C812C|NELL2_ENST00000395487.2_Silent_p.C811C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	812						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.C862C(1)|p.C812C(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)		GTTCCTGAAGGCACTGTGGAT	0.328																																					p.C812C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2436T	12						.						54.0	58.0	57.0					12																	44902732		2203	4300	6503	43188999	SO:0001819	synonymous_variant	4753	exon20			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.2436C>T	12.37:g.44902732G>A			43188999	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	CCDS8746.1																																																																																				0.328	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
PLEKHA8P1	51054	broad.mit.edu	37	12	45567976	45567976	+	RNA	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:45567976T>C	ENST00000256692.5	-	0	709					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.N58S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGCTGCATTTGCAATCTG	0.458																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	12						.						232.0	216.0	221.0					12																	45567976		2203	4300	6503	43854243			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.45567976T>C			43854243	.		Missense_Mutation	SNP	ENST00000256692.5	37																																																																																					0.458	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144	
ANO6	196527	broad.mit.edu	37	12	45695863	45695863	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:45695863G>A	ENST00000320560.8	+	2	339	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ANO6_ENST00000426898.2_Intron|ANO6_ENST00000441606.2_Missense_Mutation_p.R28Q|ANO6_ENST00000425752.2_Missense_Mutation_p.R46Q|ANO6_ENST00000435642.1_Missense_Mutation_p.R46Q|ANO6_ENST00000423947.3_Missense_Mutation_p.R67Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	46					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.R46Q(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						CATGATTTTCGAACCCCGGAG	0.328																																					p.R46Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G137A	12						.						151.0	148.0	149.0					12																	45695863		2203	4300	6503	43982130	SO:0001583	missense	196527	exon2			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.137G>A	12.37:g.45695863G>A	ENSP00000320087:p.Arg46Gln		43982130	NM_001025356	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244933	0.59103	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.71341	-0.56;-0.41;-0.56;-0.4;-0.39	4.83	-0.34	0.12643	.	1.747980	0.03427	N	0.207232	T	0.60586	0.2280	L	0.45228	1.405	0.09310	N	1	B;B;B;B	0.16166	0.0;0.011;0.016;0.003	B;B;B;B	0.06405	0.0;0.001;0.001;0.002	T	0.30031	-0.9992	10	0.13470	T	0.59	.	8.1736	0.31268	0.4528:0.0:0.5472:0.0	.	28;67;46;46	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	Q	46;67;46;46;28	ENSP00000391417:R46Q;ENSP00000409126:R67Q;ENSP00000413840:R46Q;ENSP00000320087:R46Q;ENSP00000413137:R28Q	ENSP00000320087:R46Q	R	+	2	0	ANO6	43982130	0.000000	0.05858	0.000000	0.03702	0.977000	0.68977	-0.302000	0.08221	-0.170000	0.10816	-0.152000	0.13540	CGA		0.328	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
ANO6	196527	broad.mit.edu	37	12	45822993	45822993	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:45822993C>A	ENST00000320560.8	+	20	2834	c.2632C>A	c.(2632-2634)Ctt>Att	p.L878I	ANO6_ENST00000441606.2_Missense_Mutation_p.L860I|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000435642.1_Intron|ANO6_ENST00000423947.3_Missense_Mutation_p.L899I	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	878					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.L878I(1)		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						CCAAAAGCTTCTTCATGAGAA	0.373																																					p.L878I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2632A	12						.						59.0	56.0	57.0					12																	45822993		2203	4300	6503	44109260	SO:0001583	missense	196527	exon20			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.2632C>A	12.37:g.45822993C>A	ENSP00000320087:p.Leu878Ile		44109260	NM_001025356	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797730	0.70567	.	.	ENSG00000177119	ENST00000423947;ENST00000320560;ENST00000441606	T;T;T	0.70869	-0.52;-0.52;-0.51	5.45	5.45	0.79879	.	0.146818	0.44902	D	0.000406	T	0.61211	0.2329	N	0.08118	0	0.80722	D	1	D;P;P	0.65815	0.995;0.866;0.796	P;B;B	0.58013	0.831;0.443;0.296	T	0.57051	-0.7877	10	0.20046	T	0.44	.	10.345	0.43901	0.0:0.848:0.0:0.152	.	860;899;878	E9PB30;B9EGG0;Q4KMQ2	.;.;ANO6_HUMAN	I	899;878;860	ENSP00000409126:L899I;ENSP00000320087:L878I;ENSP00000413137:L860I	ENSP00000320087:L878I	L	+	1	0	ANO6	44109260	0.965000	0.33210	0.995000	0.50966	0.903000	0.53119	2.141000	0.42168	2.941000	0.99782	0.655000	0.94253	CTT		0.373	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
SCAF11	9169	broad.mit.edu	37	12	46320854	46320854	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:46320854C>A	ENST00000369367.3	-	11	2863	c.2630G>T	c.(2629-2631)aGa>aTa	p.R877I	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.R685I|SCAF11_ENST00000419565.2_Missense_Mutation_p.R877I|SCAF11_ENST00000465950.1_Missense_Mutation_p.R562I	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	877	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R877I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGATTCAGATCTTCTGCTTTC	0.438																																					p.R877I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2630T	12						.						138.0	137.0	137.0					12																	46320854		2203	4300	6503	44607121	SO:0001583	missense	9169	exon11			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2630G>T	12.37:g.46320854C>A	ENSP00000358374:p.Arg877Ile		44607121	NM_004719	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657379	0.47467	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.59224	1.14;1.88;1.13;1.88;0.28	5.93	1.49	0.22878	.	0.307941	0.32401	N	0.006152	T	0.58836	0.2150	M	0.63843	1.955	0.34264	D	0.680288	D;P	0.53462	0.96;0.779	P;B	0.51918	0.684;0.246	T	0.67356	-0.5691	10	0.62326	D	0.03	-6.444	6.8149	0.23824	0.0:0.5446:0.1283:0.3271	.	685;877	F8VXG7;Q99590	.;SCAFB_HUMAN	I	562;877;685;877;817	ENSP00000449812:R562I;ENSP00000358374:R877I;ENSP00000448864:R685I;ENSP00000413036:R877I;ENSP00000446746:R817I	ENSP00000358374:R877I	R	-	2	0	SCAF11	44607121	0.001000	0.12720	0.977000	0.42913	0.698000	0.40448	-0.001000	0.12947	0.396000	0.25283	0.655000	0.94253	AGA		0.438	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SCAF11	9169	broad.mit.edu	37	12	46325298	46325298	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:46325298C>T	ENST00000369367.3	-	10	1065	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SCAF11_ENST00000549162.1_Missense_Mutation_p.E86K|SCAF11_ENST00000419565.2_Missense_Mutation_p.E278K|SCAF11_ENST00000465950.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	278					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E278K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CCAAAATGTTCGAAAGATATG	0.294																																					p.E278K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G832A	12						.						54.0	48.0	50.0					12																	46325298		1798	4061	5859	44611565	SO:0001583	missense	9169	exon10			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.832G>A	12.37:g.46325298C>T	ENSP00000358374:p.Glu278Lys		44611565	NM_004719	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503407	0.85176	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.44881	0.91;1.12;0.91;0.91	6.17	5.28	0.74379	.	0.000000	0.46145	U	0.000319	T	0.47021	0.1423	L	0.34521	1.04	0.32457	N	0.544581	D;D	0.61697	0.99;0.982	P;P	0.53649	0.731;0.464	T	0.61242	-0.7102	10	0.87932	D	0	-19.5039	15.975	0.80057	0.0:0.8662:0.1338:0.0	.	86;278	F8VXG7;Q99590	.;SCAFB_HUMAN	K	278;86;278;218	ENSP00000358374:E278K;ENSP00000448864:E86K;ENSP00000413036:E278K;ENSP00000446746:E218K	ENSP00000358374:E278K	E	-	1	0	SCAF11	44611565	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	2.440000	0.44855	1.597000	0.50072	0.655000	0.94253	GAA		0.294	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
PCED1B	91523	broad.mit.edu	37	12	47628897	47628897	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:47628897C>T	ENST00000546455.1	+	4	782	c.51C>T	c.(49-51)ttC>ttT	p.F17F	PCED1B_ENST00000432328.1_Silent_p.F17F|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	17							hydrolase activity (GO:0016787)	p.F17F(2)									ACAATAAGTTCGTGGTCATCC	0.592																																					p.F17F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C51T	12						.						66.0	65.0	65.0					12																	47628897		2203	4300	6503	45915164	SO:0001819	synonymous_variant	91523	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	ENST00000546455.1:c.51C>T	12.37:g.47628897C>T			45915164	NM_138371	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																				0.592	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
COL2A1	1280	broad.mit.edu	37	12	48368478	48368478	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:48368478T>C	ENST00000380518.3	-	52	4218	c.4054A>G	c.(4054-4056)Acc>Gcc	p.T1352A	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.T1283A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1352	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.T1352A(1)|p.T1283A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCATTGATGGTTTCTCCAAAC	0.493																																					p.T1283A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3847G	12						.						211.0	201.0	205.0					12																	48368478		2203	4300	6503	46654745	SO:0001583	missense	1280	exon51			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4054A>G	12.37:g.48368478T>C	ENSP00000369889:p.Thr1352Ala		46654745	NM_033150	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696031	0.48202	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.72942	-0.7;-0.7	4.93	4.93	0.64822	Fibrillar collagen, C-terminal (3);	0.062033	0.64402	D	0.000008	T	0.60560	0.2278	L	0.33293	1	0.58432	D	0.999994	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.56986	-0.7888	10	0.37606	T	0.19	.	14.5351	0.67955	0.0:0.0:0.0:1.0	.	1283;1352	P02458-1;P02458	.;CO2A1_HUMAN	A	1352;1283;1283	ENSP00000369889:T1352A;ENSP00000338213:T1283A	ENSP00000338213:T1283A	T	-	1	0	COL2A1	46654745	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.156000	0.58138	1.979000	0.57680	0.459000	0.35465	ACC		0.493	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
SENP1	29843	broad.mit.edu	37	12	48442766	48442766	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:48442766A>C	ENST00000004980.5	-	14	2035	c.1557T>G	c.(1555-1557)ttT>ttG	p.F519L	SENP1_ENST00000549518.1_Missense_Mutation_p.F519L|SENP1_ENST00000448372.1_Missense_Mutation_p.F519L|SENP1_ENST00000549595.1_Missense_Mutation_p.F519L|SENP1_ENST00000551330.1_Missense_Mutation_p.F519L|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	519	Protease.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.F519L(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGTCAACAGAAAATACATCTA	0.383																																					p.F519L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1557G	12						.						92.0	89.0	90.0					12																	48442766		1880	4109	5989	46729033	SO:0001583	missense	29843	exon14			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1557T>G	12.37:g.48442766A>C	ENSP00000004980:p.Phe519Leu		46729033	NM_014554	A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234915	0.79800	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.46063	0.88;1.55;0.88;1.55;0.88	6.03	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56202	-0.8018	10	0.87932	D	0	-14.037	8.9255	0.35637	0.6875:0.0:0.3125:0.0	.	519;519	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	L	519	ENSP00000004980:F519L;ENSP00000394791:F519L;ENSP00000446681:F519L;ENSP00000450076:F519L;ENSP00000447328:F519L	ENSP00000004980:F519L	F	-	3	2	SENP1	46729033	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.065000	0.41442	0.487000	0.27698	0.533000	0.62120	TTT		0.383	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554	
SENP1	29843	broad.mit.edu	37	12	48490179	48490179	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:48490179C>T	ENST00000004980.5	-	4	645	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	SENP1_ENST00000549518.1_Missense_Mutation_p.R56Q|SENP1_ENST00000448372.1_Missense_Mutation_p.R56Q|SENP1_ENST00000549595.1_Missense_Mutation_p.R56Q|SENP1_ENST00000551330.1_Missense_Mutation_p.R56Q|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000339976.6_Missense_Mutation_p.R88Q			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	56	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.R56Q(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGTAAAAGATCGGTCCAAATG	0.353																																					p.R56Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	12						.						101.0	93.0	95.0					12																	48490179		1843	4094	5937	46776446	SO:0001583	missense	29843	exon4			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.167G>A	12.37:g.48490179C>T	ENSP00000004980:p.Arg56Gln		46776446	NM_014554	A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493633	0.44352	.	.	ENSG00000079387	ENST00000004980;ENST00000339976;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	4.79	-1.2	0.09554	.	1.698650	0.03441	N	0.209327	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.38308	-0.9667	10	0.40728	T	0.16	3.7699	10.988	0.47532	0.0:0.2422:0.6676:0.0902	.	56;56	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	Q	56;88;56;56;56;56;49	ENSP00000004980:R56Q;ENSP00000394791:R56Q;ENSP00000446681:R56Q;ENSP00000450076:R56Q;ENSP00000447328:R56Q	ENSP00000004980:R56Q	R	-	2	0	SENP1	46776446	0.033000	0.19621	0.912000	0.35992	0.995000	0.86356	-0.097000	0.11042	-0.016000	0.14127	0.557000	0.71058	CGA		0.353	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554	
C12orf54	121273	broad.mit.edu	37	12	48886750	48886750	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:48886750A>G	ENST00000548364.1	+	6	271	c.214A>G	c.(214-216)Aca>Gca	p.T72A	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000314014.2_Missense_Mutation_p.T72A			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	72								p.T72A(1)		endometrium(1)|large_intestine(4)	5						CTGCTCCATGACACCCATGAC	0.527																																					p.T72A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A214G	12						.						159.0	131.0	140.0					12																	48886750		2203	4300	6503	47173017	SO:0001583	missense	121273	exon7			BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.214A>G	12.37:g.48886750A>G	ENSP00000447109:p.Thr72Ala		47173017	NM_152319	Q6X4S9|Q8N5S2	Missense_Mutation	SNP	ENST00000548364.1	37	CCDS8764.1	.	.	.	.	.	.	.	.	.	.	A	6.767	0.510369	0.12883	.	.	ENSG00000177627	ENST00000314014;ENST00000548364	T;T	0.55413	0.52;0.52	4.75	2.29	0.28610	.	1.133790	0.06723	N	0.775279	T	0.38453	0.1041	N	0.24115	0.695	0.09310	N	1	B	0.27882	0.192	B	0.27170	0.077	T	0.31888	-0.9927	10	0.42905	T	0.14	-0.14	6.4997	0.22162	0.8012:0.0:0.1988:0.0	.	72	Q6X4T0	CL054_HUMAN	A	72	ENSP00000316898:T72A;ENSP00000447109:T72A	ENSP00000316898:T72A	T	+	1	0	C12orf54	47173017	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.042000	0.13949	0.373000	0.24621	0.375000	0.23000	ACA		0.527	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1	NM_152319	
DDX23	9416	broad.mit.edu	37	12	49230566	49230566	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:49230566C>T	ENST00000308025.3	-	10	1101	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	341					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.R341H(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACGAAGTTTGCGGAGTCTTGC	0.537																																					p.R341H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022A	12						.						180.0	182.0	181.0					12																	49230566		2203	4300	6503	47516833	SO:0001583	missense	9416	exon10			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.1022G>A	12.37:g.49230566C>T	ENSP00000310723:p.Arg341His		47516833	NM_004818	B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622087	0.66787	.	.	ENSG00000174243	ENST00000308025	T	0.20332	2.08	5.82	5.82	0.92795	.	0.056142	0.64402	D	0.000001	T	0.22666	0.0547	L	0.43923	1.385	0.50467	D	0.999871	D	0.54772	0.968	B	0.41036	0.346	T	0.00870	-1.1533	10	0.46703	T	0.11	-2.498	18.8567	0.92255	0.0:1.0:0.0:0.0	.	341	Q9BUQ8	DDX23_HUMAN	H	341	ENSP00000310723:R341H	ENSP00000310723:R341H	R	-	2	0	DDX23	47516833	1.000000	0.71417	0.985000	0.45067	0.936000	0.57629	5.620000	0.67736	2.756000	0.94617	0.561000	0.74099	CGC		0.537	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818	
FMNL3	91010	broad.mit.edu	37	12	50044531	50044531	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:50044531C>T	ENST00000293590.5	-	17	2161	c.1928G>A	c.(1927-1929)cGt>cAt	p.R643H	FMNL3_ENST00000335154.5_Missense_Mutation_p.R643H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R643H|FMNL3_ENST00000352151.5_Missense_Mutation_p.R592H			Q8IVF7	FMNL3_HUMAN	formin-like 3	643	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.R643H(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GTTCTTGGCACGATTGGCTTC	0.572																																					p.R643H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1928A	12						.						130.0	123.0	125.0					12																	50044531		2042	4222	6264	48330798	SO:0001583	missense	91010	exon17			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1928G>A	12.37:g.50044531C>T	ENSP00000293590:p.Arg643His		48330798	NM_175736	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	35	5.545624	0.96488	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.54	5.54	0.83059	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.994;0.998	T	0.71616	-0.4539	10	0.87932	D	0	.	18.6265	0.91342	0.0:1.0:0.0:0.0	.	592;643;643	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	H	643;643;592;643	ENSP00000335655:R643H;ENSP00000447479:R643H;ENSP00000344311:R592H;ENSP00000293590:R643H	ENSP00000293590:R643H	R	-	2	0	FMNL3	48330798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.776000	0.95493	0.650000	0.86243	CGT		0.572	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	
FMNL3	91010	broad.mit.edu	37	12	50045069	50045069	+	Missense_Mutation	SNP	C	C	T	rs371568850		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:50045069C>T	ENST00000293590.5	-	16	1912	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	FMNL3_ENST00000335154.5_Missense_Mutation_p.R560Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R560Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R509Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	560					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.R560Q(3)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTTCTTAATTCGAATGGCTAA	0.537																																					p.R560Q												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G1679A	12						.	C	GLN/ARG,GLN/ARG	0,3896		0,0,1948	70.0	73.0	72.0		1679,1526	5.4	1.0	12		72	1,8303		0,1,4151	no	missense,missense	FMNL3	NM_175736.4,NM_198900.2	43,43	0,1,6099	TT,TC,CC		0.012,0.0,0.0082	probably-damaging,probably-damaging	560/1028,509/977	50045069	1,12199	1948	4152	6100	48331336	SO:0001583	missense	91010	exon16			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1679G>A	12.37:g.50045069C>T	ENSP00000293590:p.Arg560Gln		48331336	NM_175736	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	18.17	3.563671	0.65651	0.0	1.2E-4	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.80566	-1.26;-1.26;-1.39;-1.26	5.41	5.41	0.78517	Actin-binding FH2 (1);	0.107611	0.64402	D	0.000007	T	0.81908	0.4922	L	0.40543	1.245	0.54753	D	0.999982	D;P;D	0.59767	0.986;0.876;0.961	P;B;B	0.52710	0.707;0.176;0.242	T	0.81324	-0.0984	10	0.41790	T	0.15	.	18.3387	0.90298	0.0:1.0:0.0:0.0	.	509;560;560	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	Q	560;560;509;560	ENSP00000335655:R560Q;ENSP00000447479:R560Q;ENSP00000344311:R509Q;ENSP00000293590:R560Q	ENSP00000293590:R560Q	R	-	2	0	FMNL3	48331336	0.371000	0.25056	1.000000	0.80357	0.999000	0.98932	1.064000	0.30579	2.699000	0.92147	0.655000	0.94253	CGA		0.537	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	
LIMA1	51474	broad.mit.edu	37	12	50642471	50642471	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:50642471C>A	ENST00000341247.4	-	2	213	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E22*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	22					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.E22*(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						AGAGAAAGTTCTTTGGCTGTT	0.413																																					p.E22X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G64T	12						.						176.0	153.0	161.0					12																	50642471		2203	4300	6503	48928738	SO:0001587	stop_gained	51474	exon2			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.64G>T	12.37:g.50642471C>A	ENSP00000340184:p.Glu22*		48928738	NM_001113546	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280794	0.95489	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	.	.	.	4.7	4.7	0.59300	.	0.057159	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9055	15.3954	0.74787	0.0:1.0:0.0:0.0	.	.	.	.	X	22	.	ENSP00000340184:E22X	E	-	1	0	LIMA1	48928738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.199000	0.58426	2.547000	0.85894	0.655000	0.94253	GAA		0.413	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	51122406	51122406	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:51122406G>A	ENST00000301180.5	+	30	3620	c.3586G>A	c.(3586-3588)Gcc>Acc	p.A1196T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1196						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1196T(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						TCGGCAGATCGCCATCTGCCT	0.522																																					p.A1196T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3586A	12						.						132.0	106.0	115.0					12																	51122406		2203	4300	6503	49408673	SO:0001583	missense	57609	exon30			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.3586G>A	12.37:g.51122406G>A	ENSP00000301180:p.Ala1196Thr		49408673	NM_173602	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271275	0.95429	.	.	ENSG00000066084	ENST00000301180	T	0.41065	1.01	4.78	4.78	0.61160	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.57171	-0.7857	10	0.42905	T	0.14	-14.1848	18.3929	0.90489	0.0:0.0:1.0:0.0	.	1196	Q9P265	DIP2B_HUMAN	T	1196	ENSP00000301180:A1196T	ENSP00000301180:A1196T	A	+	1	0	DIP2B	49408673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.665000	0.90641	0.655000	0.94253	GCC		0.522	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
ATF1	466	broad.mit.edu	37	12	51173993	51173993	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:51173993G>A	ENST00000262053.3	+	2	87	c.65G>A	c.(64-66)gGa>gAa	p.G22E	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	22					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G22R(1)	EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	GCAGTTCAGGGAGCTCACATT	0.418			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																p.G22E			Dom	yes		12	12q13	466	activating transcription factor 1		"""E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G65A	12						.						126.0	129.0	128.0					12																	51173993		2203	4300	6503	49460260	SO:0001583	missense	466	exon2			BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.65G>A	12.37:g.51173993G>A	ENSP00000262053:p.Gly22Glu		49460260	NM_005171	B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291264	0.40494	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	T;T;T	0.76709	-1.04;0.54;0.56	5.56	4.66	0.58398	.	0.297303	0.36972	N	0.002318	T	0.76104	0.3941	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81158	-0.1060	10	0.87932	D	0	2.0397	12.7473	0.57287	0.0:0.165:0.835:0.0	.	22	P18846	ATF1_HUMAN	E	22	ENSP00000448592:G22E;ENSP00000262053:G22E;ENSP00000448921:G22E	ENSP00000262053:G22E	G	+	2	0	ATF1	49460260	1.000000	0.71417	0.996000	0.52242	0.618000	0.37518	2.049000	0.41288	1.474000	0.48178	0.655000	0.94253	GGA		0.418	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171	
TMPRSS12	283471	broad.mit.edu	37	12	51236768	51236768	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:51236768C>T	ENST00000398458.3	+	1	53	c.21C>T	c.(19-21)agC>agT	p.S7S	TMPRSS12_ENST00000551456.1_Silent_p.S7S|RN7SL519P_ENST00000497925.2_RNA	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	7						integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S7S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GGCTCCTGAGCGTGGCGCTGT	0.672																																					p.S7S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C21T	12						.						19.0	22.0	21.0					12																	51236768		2007	4151	6158	49523035	SO:0001819	synonymous_variant	283471	exon1			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.21C>T	12.37:g.51236768C>T			49523035	NM_182559	B9ZVX2	Silent	SNP	ENST00000398458.3	37	CCDS44881.1																																																																																				0.672	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559	
SLC11A2	4891	broad.mit.edu	37	12	51389534	51389534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:51389534G>A	ENST00000262051.7	-	10	955	c.868C>T	c.(868-870)Cga>Tga	p.R290*	SLC11A2_ENST00000262052.5_Nonsense_Mutation_p.R290*|SLC11A2_ENST00000394904.3_Nonsense_Mutation_p.R319*|SLC11A2_ENST00000547198.1_Nonsense_Mutation_p.R290*|SLC11A2_ENST00000546743.1_Nonsense_Mutation_p.R211*|SLC11A2_ENST00000545993.2_Nonsense_Mutation_p.R286*|SLC11A2_ENST00000541174.2_Nonsense_Mutation_p.R290*|SLC11A2_ENST00000547688.1_Nonsense_Mutation_p.R319*	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	290					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R290*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TTGGCTTCTCGAACTTCCTGC	0.373																																					p.R319X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C955T	12						.						186.0	157.0	167.0					12																	51389534		2203	4300	6503	49675801	SO:0001587	stop_gained	4891	exon10			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.868C>T	12.37:g.51389534G>A	ENSP00000262051:p.Arg290*		49675801	NM_001174125	B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Nonsense_Mutation	SNP	ENST00000262051.7	37	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286800	0.95517	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	.	.	.	5.78	5.78	0.91487	.	0.129726	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2264	7.8075	0.29211	0.0806:0.0:0.7566:0.1628	.	.	.	.	X	290;290;290;319;319;290;286;211	.	ENSP00000262051:R290X	R	-	1	2	SLC11A2	49675801	0.072000	0.21174	0.930000	0.37139	0.269000	0.26545	2.609000	0.46317	2.739000	0.93911	0.561000	0.74099	CGA		0.373	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1		
SCN8A	6334	broad.mit.edu	37	12	52159702	52159702	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:52159702G>A	ENST00000354534.6	+	16	2970	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	SCN8A_ENST00000550891.1_Missense_Mutation_p.R931Q|SCN8A_ENST00000545061.1_Missense_Mutation_p.R931Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	931					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.R931L(2)|p.R931Q(1)		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)	ATTGTCTTTCGAGTGTTGTGC	0.498																																					p.R931Q												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G2792A	12						.						227.0	231.0	230.0					12																	52159702		2201	4300	6501	50445969	SO:0001583	missense	6334	exon16			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.2792G>A	12.37:g.52159702G>A	ENSP00000346534:p.Arg931Gln		50445969	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389925	0.95988	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98550	-4.29;-4.99;-4.99;-4.99	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	L	0.55017	1.72	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.964;0.999	D	0.99517	1.0957	10	0.87932	D	0	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	931;931;931	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	Q	931;931;931;931;844	ENSP00000448415:R931Q;ENSP00000346534:R931Q;ENSP00000440360:R931Q;ENSP00000347255:R931Q	ENSP00000346534:R931Q	R	+	2	0	SCN8A	50445969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	CGA		0.498	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
ANKRD33	341405	broad.mit.edu	37	12	52284460	52284460	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:52284460C>T	ENST00000340970.4	+	5	726	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	ANKRD33_ENST00000301190.6_Missense_Mutation_p.R244W|ANKRD33_ENST00000538991.1_Missense_Mutation_p.R50W|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	119					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R244W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GTGGAGGATTCGGCAGCTGCT	0.672																																					p.R119W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C355T	12						.						27.0	29.0	28.0					12																	52284460		2202	4300	6502	50570727	SO:0001583	missense	341405	exon5				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.355C>T	12.37:g.52284460C>T	ENSP00000344690:p.Arg119Trp		50570727	NM_001130015	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428385	0.62844	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.25414	1.9;1.8;2.22	4.8	4.8	0.61643	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.59436	1.845	0.42825	D	0.994005	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.966	T	0.46610	-0.9179	10	0.87932	D	0	-6.2252	15.236	0.73432	0.0:1.0:0.0:0.0	.	119;50;244	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	W	244;50;119	ENSP00000301190:R244W;ENSP00000443722:R50W;ENSP00000344690:R119W	ENSP00000301190:R244W	R	+	1	2	ANKRD33	50570727	0.997000	0.39634	1.000000	0.80357	0.379000	0.30106	2.286000	0.43496	2.649000	0.89929	0.561000	0.74099	CGG		0.672	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608	
KRT82	3888	broad.mit.edu	37	12	52790707	52790707	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:52790707A>G	ENST00000257974.2	-	6	1105	c.1028T>C	c.(1027-1029)aTc>aCc	p.I343T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	343	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.I343T(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGCCGCTGGATCAGTTTATT	0.547																																					p.I343T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1028C	12						.						129.0	116.0	120.0					12																	52790707		2203	4300	6503	51076974	SO:0001583	missense	3888	exon6			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1028T>C	12.37:g.52790707A>G	ENSP00000257974:p.Ile343Thr		51076974	NM_033033		Missense_Mutation	SNP	ENST00000257974.2	37	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993647	0.74703	.	.	ENSG00000161850	ENST00000257974	D	0.90844	-2.74	4.82	4.82	0.62117	Filament (1);	0.000000	0.49305	D	0.000149	D	0.94169	0.8129	M	0.92604	3.325	0.38409	D	0.945871	P	0.48589	0.912	P	0.48982	0.597	D	0.96045	0.9027	10	0.72032	D	0.01	.	13.5322	0.61627	1.0:0.0:0.0:0.0	.	343	Q9NSB4	KRT82_HUMAN	T	343	ENSP00000257974:I343T	ENSP00000257974:I343T	I	-	2	0	KRT82	51076974	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.573000	0.74009	1.952000	0.56665	0.459000	0.35465	ATC		0.547	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033	
KRT6A	3853	broad.mit.edu	37	12	52886516	52886516	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:52886516C>T	ENST00000330722.6	-	1	525	c.457G>A	c.(457-459)Gat>Aat	p.D153N		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	153	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.D153N(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)		ATGGTGGGATCGATTTGCAGG	0.597																																					p.D153N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G457A	12						.						185.0	180.0	182.0					12																	52886516		2203	4300	6503	51172783	SO:0001583	missense	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.457G>A	12.37:g.52886516C>T	ENSP00000369317:p.Asp153Asn		51172783	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428087	0.96131	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.87809	-2.3	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000005	D	0.95265	0.8464	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.96007	0.8998	10	0.87932	D	0	.	19.348	0.94373	0.0:1.0:0.0:0.0	.	153	P02538	K2C6A_HUMAN	N	153;109	ENSP00000369317:D153N	ENSP00000369317:D153N	D	-	1	0	KRT6A	51172783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.683000	0.84093	2.648000	0.89879	0.644000	0.83932	GAT		0.597	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554	
KRT5	3852	broad.mit.edu	37	12	52911507	52911507	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:52911507T>C	ENST00000252242.4	-	5	1349	c.959A>G	c.(958-960)gAc>gGc	p.D320G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	320	Linker 12.|Rod.				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.D320G(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTGAGGTGTCAGAGACATG	0.517																																					p.D320G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A959G	12						.						122.0	116.0	118.0					12																	52911507		2203	4300	6503	51197774	SO:0001583	missense	3852	exon5				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.959A>G	12.37:g.52911507T>C	ENSP00000252242:p.Asp320Gly		51197774	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.078574|5.078574	0.94050|0.94050	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000252242;ENST00000456000|ENST00000548409;ENST00000551188	T|.	0.80033|.	-1.33|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Filament (1);|.	0.096082|.	0.45606|.	D|.	0.000351|.	D|.	0.85256|.	0.5655|.	M|M	0.91768|0.91768	3.24|3.24	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.76494|.	0.999|.	D|.	0.79108|.	0.992|.	D|.	0.88394|.	0.3010|.	10|.	0.87932|.	D|.	0|.	.|.	16.5655|16.5655	0.84588|0.84588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	320|.	P13647|.	K2C5_HUMAN|.	G|W	320;285|27;134	ENSP00000252242:D320G|.	ENSP00000252242:D320G|.	D|X	-|-	2|3	0|0	KRT5|KRT5	51197774|51197774	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.685000|0.685000	0.39939|0.39939	8.040000|8.040000	0.89188|0.89188	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.517	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRT72	140807	broad.mit.edu	37	12	52994910	52994910	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:52994910C>T	ENST00000537672.2	-	1	337	c.327G>A	c.(325-327)ccG>ccA	p.P109P	KRT72_ENST00000293745.2_Silent_p.P109P|KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000354310.4_Silent_p.P109P	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	109	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P109P(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)		CCACGTTGAGCGGGGCCAGGA	0.667																																					p.P109P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G327A	12						.						82.0	76.0	78.0					12																	52994910		2203	4300	6503	51281177	SO:0001819	synonymous_variant	140807	exon1			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.327G>A	12.37:g.52994910C>T			51281177	NM_001146226	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239736	0.39598	.	.	ENSG00000170486	ENST00000549979	.	.	.	4.49	-1.94	0.07571	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27123	-1.0083	4	.	.	.	.	1.5914	0.02655	0.2117:0.371:0.1662:0.2511	.	.	.	.	H	95	.	.	R	-	2	0	KRT72	51281177	0.000000	0.05858	0.947000	0.38551	0.805000	0.45488	-2.331000	0.01110	-0.362000	0.08113	-1.083000	0.02208	CGC		0.667	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747	
KRT2	3849	broad.mit.edu	37	12	53044223	53044223	+	Missense_Mutation	SNP	C	C	T	rs371361222		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:53044223C>T	ENST00000309680.3	-	2	721	c.700G>A	c.(700-702)Gac>Aac	p.D234N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	234	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.D234N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTGAGGCTGTCGATATACCCC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20167	0.0		0.0	False		,,,				2504	0.001				p.D234N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	12						.	C	ASN/ASP	0,4406		0,0,2203	184.0	178.0	180.0		700	-0.4	0.0	12		180	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT2	NM_000423.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	234/640	53044223	1,13005	2203	4300	6503	51330490	SO:0001583	missense	3849	exon2				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.700G>A	12.37:g.53044223C>T	ENSP00000310861:p.Asp234Asn		51330490	NM_000423	Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	9.212	1.031249	0.19590	0.0	1.16E-4	ENSG00000172867	ENST00000309680	D	0.88431	-2.38	5.19	-0.439	0.12264	Filament (1);	.	.	.	.	T	0.56381	0.1981	N	0.00124	-2.055	0.09310	N	1	B	0.28971	0.229	B	0.25140	0.058	T	0.58526	-0.7621	9	0.07175	T	0.84	.	10.3362	0.43852	0.0:0.5077:0.0:0.4923	.	234	P35908	K22E_HUMAN	N	234	ENSP00000310861:D234N	ENSP00000310861:D234N	D	-	1	0	KRT2	51330490	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.435000	0.01020	0.049000	0.15920	0.650000	0.86243	GAC		0.478	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
KRT3	3850	broad.mit.edu	37	12	53185017	53185017	+	Missense_Mutation	SNP	C	C	T	rs60410063		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:53185017C>T	ENST00000417996.2	-	7	1582	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H	KRT3_ENST00000309505.3_Missense_Mutation_p.R503H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	503	Coil 2.|Rod.		R -> P (in MECD; dbSNP:rs60410063). {ECO:0000269|PubMed:16227835}.		epithelial cell differentiation (GO:0030855)|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.R503H(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGCAGCTTGCGGTAGGTGGC	0.607																																					p.R503H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1508A	12	GRCh37	CM056626	KRT3	M	rs60410063	.						97.0	92.0	94.0					12																	53185017		2203	4300	6503	51471284	SO:0001583	missense	3850	exon7				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1508G>A	12.37:g.53185017C>T	ENSP00000413479:p.Arg503His		51471284	NM_057088	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418221	0.96092	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.94687	-3.49;-3.49	4.71	4.71	0.59529	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.35124	N	0.003430	D	0.98239	0.9417	H	0.96430	3.82	0.42229	D	0.991888	D	0.89917	1.0	D	0.87578	0.998	D	0.99758	1.1020	10	0.87932	D	0	.	18.2151	0.89882	0.0:1.0:0.0:0.0	.	503	P12035	K2C3_HUMAN	H	503	ENSP00000413479:R503H;ENSP00000312206:R503H	ENSP00000312206:R503H	R	-	2	0	KRT3	51471284	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.929000	0.56514	2.619000	0.88677	0.561000	0.74099	CGC		0.607	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
TENC1	23371	broad.mit.edu	37	12	53446252	53446252	+	Silent	SNP	G	G	A	rs370897636		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:53446252G>A	ENST00000314250.6	+	3	488	c.198G>A	c.(196-198)gcG>gcA	p.A66A	TENC1_ENST00000314276.3_Silent_p.A76A|TENC1_ENST00000546602.1_Silent_p.A66A|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000549700.1_Silent_p.A66A|TENC1_ENST00000552570.1_Silent_p.A66A|TENC1_ENST00000451358.1_Silent_p.A66A|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_5'UTR|RP11-983P16.4_ENST00000546793.1_RNA	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	66					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.A66A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAAGGTGGCGACGCACAGAA	0.567																																					p.A66A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G198A	12						.	G	,,	0,4406		0,0,2203	242.0	224.0	230.0		228,198,	-11.1	0.0	12		230	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,utr-5	TENC1	NM_015319.2,NM_170754.2,NM_198316.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	76/1420,66/1410,	53446252	1,13005	2203	4300	6503	51732519	SO:0001819	synonymous_variant	23371	exon3			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.198G>A	12.37:g.53446252G>A			51732519	NM_170754	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	CCDS8843.1																																																																																				0.567	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754	
IGFBP6	3489	broad.mit.edu	37	12	53494608	53494608	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:53494608G>A	ENST00000301464.3	+	2	720	c.447G>A	c.(445-447)caG>caA	p.Q149Q	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000548547.1_Silent_p.Q147Q|IGFBP6_ENST00000549628.1_3'UTR	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	149					cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.Q149Q(1)		large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CGCCCTCCCAGCCCAATTCTG	0.592																																					p.Q149Q	Esophageal Squamous(83;1656 1718 30141 34380)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G447A	12						.						97.0	96.0	96.0					12																	53494608		2203	4300	6503	51780875	SO:0001819	synonymous_variant	3489	exon2				CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.447G>A	12.37:g.53494608G>A			51780875	NM_002178	Q14492	Silent	SNP	ENST00000301464.3	37	CCDS8846.1																																																																																				0.592	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1		
ITGB7	3695	broad.mit.edu	37	12	53594136	53594136	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:53594136G>T	ENST00000267082.5	-	3	323	c.92C>A	c.(91-93)gCc>gAc	p.A31D	ITGB7_ENST00000422257.3_Missense_Mutation_p.A31D|ITGB7_ENST00000338737.4_Missense_Mutation_p.A31D|ITGB7_ENST00000550743.2_Missense_Mutation_p.A31D	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	31					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.A31D(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCATTCTGTGGCATCCCCTGT	0.587																																					p.A31D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C92A	12						.						108.0	89.0	96.0					12																	53594136		2203	4300	6503	51880403	SO:0001583	missense	3695	exon3				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.92C>A	12.37:g.53594136G>T	ENSP00000267082:p.Ala31Asp		51880403	NM_000889	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	G	7.725	0.697930	0.15106	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497;ENST00000552972;ENST00000549086	D;D;D;D;D;D	0.95412	-2.79;-2.79;-2.87;-3.7;-2.45;-2.33	5.27	3.43	0.39272	.	0.606594	0.13799	N	0.361967	D	0.90652	0.7068	N	0.19112	0.55	0.09310	N	1	P;B	0.44877	0.845;0.18	B;B	0.43478	0.421;0.076	D	0.83501	0.0075	10	0.54805	T	0.06	.	7.7564	0.28927	0.0881:0.163:0.7488:0.0	.	31;31	B7Z769;P26010	.;ITB7_HUMAN	D	31	ENSP00000408741:A31D;ENSP00000267082:A31D;ENSP00000345501:A31D;ENSP00000437375:A31D;ENSP00000450366:A31D;ENSP00000446703:A31D	ENSP00000267082:A31D	A	-	2	0	ITGB7	51880403	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.593000	0.23999	0.713000	0.32060	-0.176000	0.13171	GCC		0.587	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
RARG	5916	broad.mit.edu	37	12	53609098	53609098	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:53609098C>T	ENST00000425354.2	-	5	941	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.E80K|RARG_ENST00000394426.1_Missense_Mutation_p.E152K|RARG_ENST00000338561.5_Missense_Mutation_p.E141K|RARG_ENST00000543726.1_Missense_Mutation_p.E130K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	152					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|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)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E152K(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATGCCCACTTCGAAGCACTTC	0.557																																					p.E152K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	12						.						182.0	148.0	160.0					12																	53609098		2203	4300	6503	51895365	SO:0001583	missense	5916	exon5			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.454G>A	12.37:g.53609098C>T	ENSP00000388510:p.Glu152Lys		51895365	NM_000966	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144862	0.77888	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32	4.45	4.45	0.53987	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.058480	0.64402	D	0.000003	D	0.93161	0.7822	N	0.04768	-0.165	0.58432	D	0.999994	P;P;D;P	0.63046	0.881;0.909;0.992;0.724	P;B;P;B	0.51895	0.474;0.348;0.683;0.426	D	0.92101	0.5688	10	0.30854	T	0.27	.	12.2977	0.54857	0.0:0.8285:0.1715:0.0	.	189;130;152;141	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	K	152;152;80;141;130;189	ENSP00000388510:E152K;ENSP00000377947:E152K;ENSP00000332695:E80K;ENSP00000343698:E141K;ENSP00000444335:E130K	ENSP00000332695:E80K	E	-	1	0	RARG	51895365	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.726000	0.61986	2.471000	0.83476	0.591000	0.81541	GAA		0.557	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966	
SP7	121340	broad.mit.edu	37	12	53722189	53722189	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:53722189C>T	ENST00000536324.2	-	3	1320	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	SP7_ENST00000537210.2_Missense_Mutation_p.R328H|SP7_ENST00000303846.3_Missense_Mutation_p.R346H	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	346					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R346H(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGTGTGAGTGCGCACATGACG	0.607																																					p.R346H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037A	12						.						57.0	66.0	63.0					12																	53722189		2203	4299	6502	52008456	SO:0001583	missense	121340	exon2			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.1037G>A	12.37:g.53722189C>T	ENSP00000443827:p.Arg346His		52008456	NM_152860	B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446685	0.84101	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210	T;T;T	0.25749	1.78;1.78;1.78	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63265	-0.6676	10	0.87932	D	0	.	16.9848	0.86337	0.0:1.0:0.0:0.0	.	346	Q8TDD2	SP7_HUMAN	H	346;346;328	ENSP00000443827:R346H;ENSP00000302812:R346H;ENSP00000441367:R328H	ENSP00000302812:R346H	R	-	2	0	SP7	52008456	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.776000	0.85560	2.461000	0.83175	0.491000	0.48974	CGC		0.607	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1		
ATF7	11016	broad.mit.edu	37	12	53911100	53911100	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:53911100C>T	ENST00000548446.2	-	12	1418	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000328463.7_Missense_Mutation_p.A436T|ATF7_ENST00000415113.1_Missense_Mutation_p.A404T|RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000456903.4_Missense_Mutation_p.A425T|ATF7_ENST00000420353.2_Missense_Mutation_p.A425T			P17544	ATF7_HUMAN	activating transcription factor 7	436	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A436T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	ATCACAGGGGCTGGAGAACCC	0.562																																					p.A425T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1273A	12						.						65.0	69.0	68.0					12																	53911100		2013	4186	6199	52197367	SO:0001583	missense	11016	exon12			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1306G>A	12.37:g.53911100C>T	ENSP00000449938:p.Ala436Thr		52197367	NM_006856	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37		.	.	.	.	.	.	.	.	.	.	C	13.89	2.372052	0.42003	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.45668	0.89;0.89;0.92;0.89;0.89	4.6	4.6	0.57074	.	0.114632	0.56097	D	0.000023	T	0.25195	0.0612	N	0.19112	0.55	0.51012	D	0.999907	B;P;B	0.41673	0.11;0.759;0.017	B;B;B	0.36464	0.074;0.225;0.016	T	0.08229	-1.0732	10	0.06625	T	0.88	-13.4697	16.792	0.85591	0.0:1.0:0.0:0.0	.	404;425;436	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	T	436;436;249;404;425;425	ENSP00000449938:A436T;ENSP00000329212:A436T;ENSP00000404880:A404T;ENSP00000399465:A425T;ENSP00000387406:A425T	ENSP00000304187:A249T	A	-	1	0	ATF7	52197367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.113000	0.57851	2.582000	0.87167	0.555000	0.69702	GCC		0.562	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059	
HOXC10	3226	broad.mit.edu	37	12	54385592	54385592	+	IGR	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:54385592G>T	ENST00000303460.4	+	0	1936				MIR196A2_ENST00000385189.1_RNA|HOXC-AS2_ENST00000604081.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10						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)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TCGGCAACAAGAAACTGCCTG	0.557																																					.												.	.	0			.	12						.						65.0	58.0	60.0					12																	54385592		1568	3582	5150	52671859	SO:0001628	intergenic_variant	406973	.				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		12.37:g.54385592G>T			52671859	.	O15219|O15220|Q9BVD5	RNA	SNP	ENST00000303460.4	37	CCDS8868.1																																																																																				0.557	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2		
HOXC5	3222	broad.mit.edu	37	12	54428070	54428070	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:54428070G>A	ENST00000312492.2	+	2	733	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|MIR615_ENST00000384839.1_RNA|RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.G59S	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	155					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G155S(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGAGACGGACGGCAAGCGGTC	0.617																																					p.G155S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463A	12						.						80.0	89.0	86.0					12																	54428070		2203	4300	6503	52714337	SO:0001583	missense	3222	exon2				CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.463G>A	12.37:g.54428070G>A	ENSP00000309336:p.Gly155Ser		52714337	NM_018953		Missense_Mutation	SNP	ENST00000312492.2	37	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045717	0.55110	.	.	ENSG00000172789	ENST00000312492	D	0.95518	-3.73	4.13	4.13	0.48395	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.175179	0.27744	N	0.018025	D	0.93452	0.7911	L	0.57536	1.79	0.80722	D	1	B	0.23058	0.079	B	0.12156	0.007	D	0.92011	0.5618	10	0.48119	T	0.1	.	15.6718	0.77283	0.0:0.0:1.0:0.0	.	155	Q00444	HXC5_HUMAN	S	155	ENSP00000309336:G155S	ENSP00000309336:G155S	G	+	1	0	HOXC5	52714337	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.802000	0.85969	2.293000	0.77203	0.561000	0.74099	GGC		0.617	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1		
NCKAP1L	3071	broad.mit.edu	37	12	54920455	54920455	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:54920455G>A	ENST00000293373.6	+	21	2379	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	767					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.R767H(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						AGAGTCATCCGCAACGCCCTC	0.512																																					p.R717H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2150A	12						.						123.0	102.0	109.0					12																	54920455		2203	4300	6503	53206722	SO:0001583	missense	3071	exon21			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.2300G>A	12.37:g.54920455G>A	ENSP00000293373:p.Arg767His		53206722	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992832	0.74703	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35789	1.29;1.29	4.99	4.99	0.66335	.	0.122415	0.53938	D	0.000041	T	0.47655	0.1457	L	0.40543	1.245	0.37591	D	0.920173	D	0.71674	0.998	P	0.59825	0.864	T	0.53180	-0.8475	10	0.56958	D	0.05	-14.0375	16.1445	0.81555	0.0:0.0:1.0:0.0	.	767	P55160	NCKPL_HUMAN	H	767;717	ENSP00000293373:R767H;ENSP00000445596:R717H	ENSP00000293373:R767H	R	+	2	0	NCKAP1L	53206722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	2.479000	0.83701	0.561000	0.74099	CGC		0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
TESPA1	9840	broad.mit.edu	37	12	55356259	55356259	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:55356259G>A	ENST00000449076.1	-	9	1555	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	TESPA1_ENST00000531122.1_Missense_Mutation_p.R337W|TESPA1_ENST00000316577.8_Missense_Mutation_p.R475W|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.R337W|TESPA1_ENST00000524622.1_Missense_Mutation_p.R337W	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	475				R -> Q (in Ref. 7; AAH44578). {ECO:0000305}.	COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R337W(1)									CTTAAAGACCGACGCAGTTCT	0.517																																					p.R475W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1423T	12						.						167.0	170.0	169.0					12																	55356259		1951	4163	6114	53642526	SO:0001583	missense	9840	exon9			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1423C>T	12.37:g.55356259G>A	ENSP00000400892:p.Arg475Trp		53642526	NM_001098815	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517497	0.27123	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.51817	0.69;0.69;0.71;0.71;0.69	4.7	3.8	0.43715	.	1.157010	0.06533	N	0.741787	T	0.47655	0.1457	L	0.27053	0.805	0.09310	N	1	D	0.60160	0.987	P	0.50896	0.653	T	0.43278	-0.9401	10	0.72032	D	0.01	0.3771	11.1064	0.48205	0.0:0.186:0.814:0.0	.	475	A2RU30	K0748_HUMAN	W	337;75;337;475;475;337	ENSP00000435622:R337W;ENSP00000432030:R337W;ENSP00000400892:R475W;ENSP00000312679:R475W;ENSP00000433098:R337W	ENSP00000312679:R475W	R	-	1	2	KIAA0748	53642526	0.004000	0.15560	0.002000	0.10522	0.024000	0.10985	1.394000	0.34509	1.567000	0.49668	0.655000	0.94253	CGG		0.517	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
TESPA1	9840	broad.mit.edu	37	12	55356615	55356615	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:55356615G>A	ENST00000449076.1	-	9	1199	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F	TESPA1_ENST00000531122.1_Missense_Mutation_p.S218F|TESPA1_ENST00000316577.8_Missense_Mutation_p.S356F|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.S218F|TESPA1_ENST00000524622.1_Missense_Mutation_p.S218F	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	356					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S218F(1)									TGGATAGGGAGAAGTGGGCAA	0.517																																					p.S356F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1067T	12						.						53.0	55.0	54.0					12																	55356615		1959	4154	6113	53642882	SO:0001583	missense	9840	exon9			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1067C>T	12.37:g.55356615G>A	ENSP00000400892:p.Ser356Phe		53642882	NM_001098815	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159773	0.57368	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	3.78	3.78	0.43462	.	0.456748	0.18868	N	0.128955	T	0.64778	0.2629	L	0.34521	1.04	0.25024	N	0.991313	D	0.61697	0.99	P	0.60345	0.873	T	0.56547	-0.7961	10	0.72032	D	0.01	-10.5298	11.4217	0.49985	0.0:0.0:1.0:0.0	.	356	A2RU30	K0748_HUMAN	F	218;218;356;356;218	ENSP00000435622:S218F;ENSP00000432030:S218F;ENSP00000400892:S356F;ENSP00000312679:S356F;ENSP00000433098:S218F	ENSP00000312679:S356F	S	-	2	0	KIAA0748	53642882	0.148000	0.22702	0.389000	0.26208	0.209000	0.24338	2.694000	0.47035	2.423000	0.82170	0.655000	0.94253	TCT		0.517	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
OR9K2	441639	broad.mit.edu	37	12	55523706	55523706	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:55523706C>A	ENST00000305377.5	+	1	242	c.154C>A	c.(154-156)Ctc>Atc	p.L52I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L52I(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CCACATTCTCCTCTTCCTGCT	0.453																																					p.L52I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C154A	12						.						176.0	167.0	170.0					12																	55523706		2203	4300	6503	53809973	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.154C>A	12.37:g.55523706C>A	ENSP00000307598:p.Leu52Ile		53809973	NM_001005243	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	C	7.427	0.637939	0.14386	.	.	ENSG00000170605	ENST00000305377	T	0.16457	2.34	4.98	3.12	0.35913	.	0.310878	0.23173	N	0.051115	T	0.14960	0.0361	L	0.49350	1.555	0.09310	N	1	B	0.22080	0.064	B	0.24394	0.053	T	0.22836	-1.0205	10	0.87932	D	0	-10.5232	4.9047	0.13793	0.1533:0.6179:0.0:0.2288	.	52	Q8NGE7	OR9K2_HUMAN	I	52	ENSP00000307598:L52I	ENSP00000307598:L52I	L	+	1	0	OR9K2	53809973	0.000000	0.05858	0.911000	0.35937	0.314000	0.28054	0.018000	0.13422	0.786000	0.33708	-0.133000	0.14855	CTC		0.453	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1		
OR6C76	390326	broad.mit.edu	37	12	55820873	55820873	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:55820873C>T	ENST00000328314.3	+	1	836	c.836C>T	c.(835-837)gCt>gTt	p.A279V		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A279V(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACCTCTGTCGCTCCTATGCTG	0.373																																					p.A279V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C836T	12						.						66.0	62.0	64.0					12																	55820873		2203	4299	6502	54107140	SO:0001583	missense	390326	exon1				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.836C>T	12.37:g.55820873C>T	ENSP00000328402:p.Ala279Val		54107140	NM_001005183		Missense_Mutation	SNP	ENST00000328314.3	37	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	c	11.01	1.513763	0.27123	.	.	ENSG00000185821	ENST00000328314	T	0.36878	1.23	4.02	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.146966	0.31031	U	0.008389	T	0.41858	0.1177	L	0.46885	1.475	0.28320	N	0.922283	P	0.41546	0.754	P	0.49502	0.613	T	0.36138	-0.9760	10	0.59425	D	0.04	.	12.5771	0.56369	0.0:0.8304:0.1696:0.0	.	279	A6NM76	O6C76_HUMAN	V	279	ENSP00000328402:A279V	ENSP00000328402:A279V	A	+	2	0	OR6C76	54107140	0.000000	0.05858	0.031000	0.17742	0.020000	0.10135	0.197000	0.17197	1.007000	0.39238	-0.410000	0.06199	GCT		0.373	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
OR6C2	341416	broad.mit.edu	37	12	55846187	55846187	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:55846187T>G	ENST00000322678.1	+	1	190	c.190T>G	c.(190-192)Ttt>Gtt	p.F64V	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	64					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.F64V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCTCAGAAATTTTTCCTTCTT	0.403																																					p.F64V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T190G	12						.						97.0	100.0	99.0					12																	55846187		2203	4300	6503	54132454	SO:0001583	missense	341416	exon1			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.190T>G	12.37:g.55846187T>G	ENSP00000323606:p.Phe64Val		54132454	NM_054105		Missense_Mutation	SNP	ENST00000322678.1	37	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160033	0.38119	.	.	ENSG00000179695	ENST00000322678	T	0.01446	4.88	5.42	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.100026	0.44483	D	0.000460	T	0.03520	0.0101	M	0.85373	2.75	0.22601	N	0.998947	P	0.44578	0.838	B	0.41917	0.37	T	0.32877	-0.9890	10	0.72032	D	0.01	.	4.4267	0.11507	0.0:0.2186:0.3136:0.4677	.	64	Q9NZP2	OR6C2_HUMAN	V	64	ENSP00000323606:F64V	ENSP00000323606:F64V	F	+	1	0	OR6C2	54132454	0.001000	0.12720	0.009000	0.14445	0.004000	0.04260	-0.087000	0.11215	0.127000	0.18452	-0.321000	0.08615	TTT		0.403	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105	
OR6C2	341416	broad.mit.edu	37	12	55846297	55846297	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:55846297C>A	ENST00000322678.1	+	1	300	c.300C>A	c.(298-300)ttC>ttA	p.F100L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	100					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.F100L(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GTCAAATATTCTTTGTTATTC	0.398																																					p.F100L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C300A	12						.						142.0	141.0	141.0					12																	55846297		2203	4299	6502	54132564	SO:0001583	missense	341416	exon1			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.300C>A	12.37:g.55846297C>A	ENSP00000323606:p.Phe100Leu		54132564	NM_054105		Missense_Mutation	SNP	ENST00000322678.1	37	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372384	0.42003	.	.	ENSG00000179695	ENST00000322678	T	0.05382	3.45	5.42	0.31	0.15825	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.08179	0.0204	M	0.68728	2.09	0.27324	N	0.956952	B	0.30914	0.3	B	0.34489	0.184	T	0.14924	-1.0455	10	0.66056	D	0.02	.	6.3405	0.21321	0.0:0.2198:0.1286:0.6516	.	100	Q9NZP2	OR6C2_HUMAN	L	100	ENSP00000323606:F100L	ENSP00000323606:F100L	F	+	3	2	OR6C2	54132564	0.001000	0.12720	0.714000	0.30535	0.004000	0.04260	-0.898000	0.04105	-0.093000	0.12396	-0.858000	0.03015	TTC		0.398	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105	
OR6C68	403284	broad.mit.edu	37	12	55886399	55886399	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:55886399T>G	ENST00000548615.1	+	1	238	c.238T>G	c.(238-240)Tta>Gta	p.L80V	RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.L85V|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L85V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCCAAGATTCTTATACAGTAT	0.343																																					p.L85V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T253G	12						.						129.0	127.0	127.0					12																	55886399		2203	4300	6503	54172666	SO:0001583	missense	403284	exon1				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.238T>G	12.37:g.55886399T>G	ENSP00000448811:p.Leu80Val		54172666	NM_001005519		Missense_Mutation	SNP	ENST00000548615.1	37	CCDS31826.2	.	.	.	.	.	.	.	.	.	.	T	13.31	2.197776	0.38806	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.00416	7.51;7.51	4.67	-9.34	0.00636	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36200	N	0.002735	T	0.01124	0.0037	M	0.90922	3.16	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.34129	-0.9841	10	0.66056	D	0.02	.	15.7535	0.78005	0.2401:0.6635:0.0:0.0964	.	80	A6NDL8	O6C68_HUMAN	V	85;80	ENSP00000368983:L85V;ENSP00000448811:L80V	ENSP00000368983:L85V	L	+	1	2	OR6C68	54172666	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.480000	0.00983	-3.364000	0.00178	-0.381000	0.06696	TTA		0.343	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1		
ITGA7	3679	broad.mit.edu	37	12	56094925	56094925	+	Missense_Mutation	SNP	C	C	T	rs537937026		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:56094925C>T	ENST00000555728.1	-	4	456	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	ITGA7_ENST00000553804.1_Missense_Mutation_p.R143Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R143Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R143Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R143Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R143Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R46Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R143Q			Q13683	ITA7_HUMAN	integrin, alpha 7	143					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.R143Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCCTCATATCGGTGTGCACA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		23279	0.0		0.0	False		,,,				2504	0.001				p.R46Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137A	12						.						120.0	103.0	109.0					12																	56094925		2203	4300	6503	54381192	SO:0001583	missense	3679	exon4				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.428G>A	12.37:g.56094925C>T	ENSP00000452387:p.Arg143Gln		54381192	NM_001144997	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	C	13.92	2.380975	0.42207	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	4.47	2.47	0.30058	.	0.490245	0.18471	N	0.140214	T	0.66703	0.2816	M	0.85777	2.775	0.34211	D	0.674321	D;P;D;D	0.71674	0.987;0.872;0.998;0.981	P;P;D;B	0.65987	0.847;0.485;0.94;0.439	T	0.77194	-0.2677	10	0.72032	D	0.01	.	9.8796	0.41225	0.4884:0.5116:0.0:0.0	.	46;143;143;206	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	143;143;143;46;143;143;143;143;143	ENSP00000452120:R143Q;ENSP00000257879:R143Q;ENSP00000343009:R143Q;ENSP00000393844:R46Q;ENSP00000257880:R143Q;ENSP00000377777:R143Q;ENSP00000377776:R143Q;ENSP00000452387:R143Q	ENSP00000257879:R143Q	R	-	2	0	ITGA7	54381192	0.253000	0.23982	0.559000	0.28332	0.128000	0.20619	0.936000	0.28938	1.235000	0.43724	-0.324000	0.08512	CGA		0.582	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
CD63	967	broad.mit.edu	37	12	56120004	56120004	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:56120004T>G	ENST00000549117.1	-	6	904	c.468A>C	c.(466-468)aaA>aaC	p.K156N	CD63_ENST00000548160.1_Missense_Mutation_p.K63N|CD63_ENST00000552067.1_Missense_Mutation_p.K63N|CD63_ENST00000548898.1_Missense_Mutation_p.K63N|CD63_ENST00000552692.1_Missense_Mutation_p.K156N|CD63_ENST00000546939.1_Missense_Mutation_p.K74N|CD63_ENST00000552754.1_Missense_Mutation_p.K133N|CD63_ENST00000257857.4_Missense_Mutation_p.K156N|CD63_ENST00000550776.1_Missense_Mutation_p.K74N|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000420846.3_Missense_Mutation_p.K156N	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	156					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.K156N(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						TGGAAGGGATTTTCTCCCAAT	0.468																																					p.K156N	Pancreas(123;1459 1747 6717 18841 37380)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A468C	12						.						107.0	106.0	106.0					12																	56120004		2203	4300	6503	54406271	SO:0001583	missense	967	exon6			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.468A>C	12.37:g.56120004T>G	ENSP00000447730:p.Lys156Asn		54406271	NM_001780	F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	T	8.535	0.871922	0.17322	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	T;T;T;T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.57	-2.06	0.07298	Tetraspanin, EC2 domain (1);	1.887080	0.02380	N	0.078695	T	0.52141	0.1716	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.39583	-0.9607	10	0.13853	T	0.58	.	2.0781	0.03628	0.2294:0.4199:0.2074:0.1433	.	133;156;156	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	N	63;63;156;63;74;156;156;156;133;74;156;156	ENSP00000447938:K63N;ENSP00000449684:K63N;ENSP00000393502:K156N;ENSP00000449654:K63N;ENSP00000447356:K74N;ENSP00000449337:K156N;ENSP00000447730:K156N;ENSP00000257857:K156N;ENSP00000446807:K133N;ENSP00000448091:K74N;ENSP00000449281:K156N;ENSP00000446752:K156N	ENSP00000257857:K156N	K	-	3	2	CD63	54406271	0.001000	0.12720	0.000000	0.03702	0.682000	0.39822	0.257000	0.18369	-0.245000	0.09625	-0.452000	0.05504	AAA		0.468	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1		
RBMS2	5939	broad.mit.edu	37	12	56956281	56956281	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:56956281A>C	ENST00000262031.5	+	2	242	c.147A>C	c.(145-147)ggA>ggC	p.G49G	RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000552247.2_Silent_p.G49G	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	49					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G49G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GAAGCAATGGAAATGACCAGC	0.498																																					p.G49G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A147C	12						.						137.0	114.0	122.0					12																	56956281		2202	4281	6483	55242548	SO:0001819	synonymous_variant	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.147A>C	12.37:g.56956281A>C			55242548	NM_002898		Silent	SNP	ENST00000262031.5	37	CCDS8923.1																																																																																				0.498	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898	
LRP1	4035	broad.mit.edu	37	12	57598195	57598195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:57598195C>T	ENST00000243077.3	+	71	11420	c.10954C>T	c.(10954-10956)Cgg>Tgg	p.R3652W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3652	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R3652W(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACCAGTGCGGACCTGCCC	0.622																																					p.R3652W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10954T	12						.						71.0	68.0	69.0					12																	57598195		2203	4300	6503	55884462	SO:0001583	missense	4035	exon71			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10954C>T	12.37:g.57598195C>T	ENSP00000243077:p.Arg3652Trp		55884462	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761345	0.49468	.	.	ENSG00000123384	ENST00000243077	D	0.90955	-2.76	5.24	0.852	0.18995	.	0.000000	0.64402	D	0.000004	D	0.93429	0.7904	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92033	0.5635	10	0.45353	T	0.12	.	14.529	0.67912	0.6148:0.3852:0.0:0.0	.	3652	Q07954	LRP1_HUMAN	W	3652	ENSP00000243077:R3652W	ENSP00000243077:R3652W	R	+	1	2	LRP1	55884462	0.796000	0.28864	1.000000	0.80357	0.975000	0.68041	0.421000	0.21280	0.275000	0.22094	0.558000	0.71614	CGG		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
ARHGAP9	64333	broad.mit.edu	37	12	57868660	57868660	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:57868660C>A	ENST00000356411.2	-	13	1844	c.1706G>T	c.(1705-1707)aGa>aTa	p.R569I	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R629I|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R550I|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R366I|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R550I|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R640I			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	569	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R569I(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAAATGACCTCTTTTATCCAC	0.527																																					p.R366I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097T	12						.						49.0	48.0	48.0					12																	57868660		2203	4300	6503	56154927	SO:0001583	missense	64333	exon11			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1706G>T	12.37:g.57868660C>A	ENSP00000348782:p.Arg569Ile		56154927	NM_001080156	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.380179|4.380179	0.82682|0.82682	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	.|T;T;T;T;T;T	.|0.21361	.|2.01;2.01;2.01;2.01;2.01;2.01	5.2|5.2	4.3|4.3	0.51218|0.51218	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.164275	.|0.52532	.|D	.|0.000075	.|T	.|0.44138	.|0.1279	M|M	0.75615|0.75615	2.305|2.305	0.51233|0.51233	D|D	0.999915|0.999915	.|D;D;D;D;D	.|0.89917	.|0.988;0.999;0.958;1.0;0.978	.|P;D;P;D;D	.|0.77557	.|0.856;0.972;0.663;0.99;0.936	.|T	.|0.43814	.|-0.9368	.|10	.|0.87932	.|D	.|0	.|.	10.8783|10.8783	0.46923|0.46923	0.0:0.9078:0.0:0.0922|0.0:0.9078:0.0:0.0922	.|.	.|629;569;550;550;366	.|Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.|.;RHG09_HUMAN;.;.;.	X|I	20|550;569;220;550;640;599;366;57	.|ENSP00000377380:R550I;ENSP00000348782:R569I;ENSP00000394307:R550I;ENSP00000377386:R640I;ENSP00000397950:R366I;ENSP00000448423:R57I	.|ENSP00000344852:R599I	E|R	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56154927|56154927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.926000|1.926000	0.40084|0.40084	1.496000|1.496000	0.48567|0.48567	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.527	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
ARHGAP9	64333	broad.mit.edu	37	12	57872374	57872374	+	Silent	SNP	G	G	A	rs145600928	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:57872374G>A	ENST00000356411.2	-	3	621	c.483C>T	c.(481-483)agC>agT	p.S161S	ARHGAP9_ENST00000550288.1_Silent_p.S240S|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Silent_p.S161S|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393791.3_Silent_p.S161S|ARHGAP9_ENST00000393797.2_Silent_p.S232S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	161					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.S161S(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGGATCTTCCGCTTGGTCCTT	0.582													G|||	5	0.000998403	0.003	0.0	5008	,	,		19530	0.001		0.0	False		,,,				2504	0.0				p.S161S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C483T	12						.	G	,	12,4394	20.2+/-43.8	0,12,2191	96.0	89.0	92.0		483,483	-0.0	0.0	12	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ARHGAP9	NM_001080157.1,NM_032496.2	,	0,13,6490	AA,AG,GG		0.0116,0.2724,0.1	,	161/641,161/732	57872374	13,12993	2203	4300	6503	56158641	SO:0001819	synonymous_variant	64333	exon3			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.483C>T	12.37:g.57872374G>A			56158641	NM_032496	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37																																																																																					0.582	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
DCTN2	10540	broad.mit.edu	37	12	57929610	57929610	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:57929610T>G	ENST00000548249.1	-	3	391	c.124A>C	c.(124-126)Agt>Cgt	p.S42R	DCTN2_ENST00000543672.1_Missense_Mutation_p.S47R|DCTN2_ENST00000551400.1_5'UTR|DCTN2_ENST00000434715.3_Missense_Mutation_p.S47R|DCTN2_ENST00000537439.1_Missense_Mutation_p.S19R	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	42					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.S47R(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TGTTCCACACTTGTGCTTGTC	0.493																																					p.K42T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A125C	12						.						63.0	65.0	65.0					12																	57929610		2007	4169	6176	56215877	SO:0001583	missense	10540	exon3			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.124A>C	12.37:g.57929610T>G	ENSP00000447824:p.Ser42Arg		56215877	NM_006400	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.381471	0.82792	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000550086;ENST00000550954;ENST00000546670;ENST00000550750	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.984;0.984;0.99	T	0.74106	-0.3772	9	0.26408	T	0.33	-0.0323	14.4945	0.67678	0.0:0.0:0.0:1.0	.	42;47;42	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	R	42;47;47;19;42;7;56;42;19	.	ENSP00000346785:S42R	S	-	1	0	DCTN2	56215877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.615000	0.83006	2.133000	0.65898	0.533000	0.62120	AGT		0.493	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400	
ARHGEF25	115557	broad.mit.edu	37	12	58009471	58009471	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:58009471A>C	ENST00000286494.4	+	12	1675	c.1215A>C	c.(1213-1215)ggA>ggC	p.G405G	ARHGEF25_ENST00000333972.7_Silent_p.G444G|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	405	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G405G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CACAGCCTGGATATGTATACA	0.552																																					p.G444G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1332C	12						.						87.0	83.0	84.0					12																	58009471		2203	4300	6503	56295738	SO:0001819	synonymous_variant	115557	exon13				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1215A>C	12.37:g.58009471A>C			56295738	NM_001111270	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	ENST00000286494.4	37	CCDS8947.1																																																																																				0.552	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483	
LRIG3	121227	broad.mit.edu	37	12	59280654	59280654	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:59280654T>G	ENST00000320743.3	-	9	1396	c.1110A>C	c.(1108-1110)gaA>gaC	p.E370D	LRIG3_ENST00000379141.4_Missense_Mutation_p.E310D	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	370					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E370D(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)			TCCAGGAAATTTCATTGTTCT	0.398			T	ROS1	NSCLC																																p.E370D			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1110C	12						.						170.0	166.0	168.0					12																	59280654		2203	4300	6503	57566921	SO:0001583	missense	121227	exon9			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.1110A>C	12.37:g.59280654T>G	ENSP00000326759:p.Glu370Asp		57566921	NM_153377	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587742	0.46110	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.57907	0.37;0.37	5.8	3.43	0.39272	.	0.000000	0.38217	N	0.001780	T	0.33556	0.0867	N	0.21448	0.665	0.49915	D	0.999836	B;B	0.31503	0.008;0.326	B;B	0.28139	0.026;0.086	T	0.05370	-1.0889	9	.	.	.	.	9.4023	0.38440	0.0:0.1427:0.0:0.8573	.	310;370	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	D	310;370	ENSP00000368436:E310D;ENSP00000326759:E370D	.	E	-	3	2	LRIG3	57566921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.029000	0.30140	0.455000	0.26910	0.533000	0.62120	GAA		0.398	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
SLC16A7	9194	broad.mit.edu	37	12	60169011	60169011	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:60169011G>A	ENST00000261187.4	+	4	1099	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213Q|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312Q|SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312Q|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312Q	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	312					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.R312Q(1)|p.R312L(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)	ATTCGACCTCGAATTCAGTAC	0.423																																					p.R312Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G935A	12						.						144.0	144.0	144.0					12																	60169011		2203	4300	6503	58455278	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.935G>A	12.37:g.60169011G>A	ENSP00000261187:p.Arg312Gln		58455278	NM_004731	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015228	0.75161	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261657	0.32533	N	0.005972	D	0.89058	0.6607	M	0.73430	2.235	0.39351	D	0.965753	D	0.71674	0.998	D	0.65773	0.938	D	0.89026	0.3438	9	.	.	.	.	11.3564	0.49617	0.1093:0.0:0.8907:0.0	.	312	O60669	MOT2_HUMAN	Q	312;312;312;312;312;213	ENSP00000449547:R312Q;ENSP00000448071:R312Q;ENSP00000448742:R312Q;ENSP00000446722:R312Q;ENSP00000261187:R312Q;ENSP00000443731:R213Q	.	R	+	2	0	SLC16A7	58455278	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.668000	0.54554	2.880000	0.98712	0.650000	0.86243	CGA		0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
SLC16A7	9194	broad.mit.edu	37	12	60173215	60173215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:60173215G>A	ENST00000261187.4	+	5	1356	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	SLC16A7_ENST00000543448.1_Missense_Mutation_p.D299N|SLC16A7_ENST00000552432.1_Missense_Mutation_p.D398N|SLC16A7_ENST00000547379.1_Missense_Mutation_p.D398N|SLC16A7_ENST00000552024.1_Missense_Mutation_p.D398N	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	398					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.D398N(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)	TAAATTGGTGGATTTAACTGG	0.323																																					p.D398N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1192A	12						.						59.0	59.0	59.0					12																	60173215		2203	4299	6502	58459482	SO:0001583	missense	9194	exon5			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.1192G>A	12.37:g.60173215G>A	ENSP00000261187:p.Asp398Asn		58459482	NM_004731	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352207	0.82132	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.84511	2.7	0.80722	D	1	D	0.54964	0.969	P	0.48770	0.589	T	0.69343	-0.5170	9	.	.	.	.	19.205	0.93726	0.0:0.0:1.0:0.0	.	398	O60669	MOT2_HUMAN	N	398;398;398;398;398;299	ENSP00000449547:D398N;ENSP00000448071:D398N;ENSP00000448742:D398N;ENSP00000446722:D398N;ENSP00000261187:D398N;ENSP00000443731:D299N	.	D	+	1	0	SLC16A7	58459482	1.000000	0.71417	0.976000	0.42696	0.391000	0.30476	9.788000	0.99064	2.602000	0.87976	0.591000	0.81541	GAT		0.323	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
SLC16A7	9194	broad.mit.edu	37	12	60173362	60173362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:60173362G>T	ENST00000261187.4	+	5	1503	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	SLC16A7_ENST00000543448.1_Nonsense_Mutation_p.E348*|SLC16A7_ENST00000552432.1_Nonsense_Mutation_p.E447*|SLC16A7_ENST00000547379.1_Nonsense_Mutation_p.E447*|SLC16A7_ENST00000552024.1_Nonsense_Mutation_p.E447*	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	447					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.E447*(2)		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)	GAAGACCAGAGAATCTGAACC	0.413																																					p.E447X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1339T	12						.						96.0	82.0	87.0					12																	60173362		2203	4300	6503	58459629	SO:0001587	stop_gained	9194	exon5			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.1339G>T	12.37:g.60173362G>T	ENSP00000261187:p.Glu447*		58459629	NM_004731	Q8NEM3|Q9UPB3	Nonsense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	39	7.674662	0.98425	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000261187;ENST00000543448	.	.	.	4.59	4.59	0.56863	.	1.098970	0.06692	N	0.769955	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7416	0.88408	0.0:0.0:1.0:0.0	.	.	.	.	X	447;447;447;447;348	.	.	E	+	1	0	SLC16A7	58459629	1.000000	0.71417	0.284000	0.24805	0.084000	0.17831	5.920000	0.70017	2.249000	0.74217	0.467000	0.42956	GAA		0.413	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
MON2	23041	broad.mit.edu	37	12	62954478	62954478	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:62954478G>A	ENST00000393632.2	+	26	4008	c.3617G>A	c.(3616-3618)aGc>aAc	p.S1206N	MON2_ENST00000393629.2_Missense_Mutation_p.S1206N|MON2_ENST00000393630.3_Missense_Mutation_p.S1207N|MON2_ENST00000546600.1_Missense_Mutation_p.S1206N|MON2_ENST00000280379.6_Missense_Mutation_p.S1207N|MON2_ENST00000552738.1_Missense_Mutation_p.S1183N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1206					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.S1206N(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)		TCAGGCATGAGCAGGCCATTT	0.433																																					p.S1206N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3617A	12						.						85.0	80.0	82.0					12																	62954478		2203	4300	6503	61240745	SO:0001583	missense	23041	exon26				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.3617G>A	12.37:g.62954478G>A	ENSP00000377252:p.Ser1206Asn		61240745	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571776	0.13623	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.56103	0.49;0.49;0.48;0.48;0.48;0.49	5.29	1.35	0.21983	.	0.335379	0.34531	N	0.003886	T	0.32164	0.0820	N	0.22421	0.69	0.25840	N	0.984065	B;B;B;B;B	0.30361	0.0;0.0;0.0;0.277;0.0	B;B;B;B;B	0.26310	0.0;0.0;0.001;0.068;0.0	T	0.14117	-1.0484	9	.	.	.	-0.2151	9.4112	0.38494	0.2975:0.0:0.7025:0.0	.	1206;1183;1206;81;1206	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	N	1206;1207;1207;1206;1183;1206	ENSP00000377252:S1206N;ENSP00000377250:S1207N;ENSP00000280379:S1207N;ENSP00000447407:S1206N;ENSP00000449215:S1183N;ENSP00000377249:S1206N	.	S	+	2	0	MON2	61240745	1.000000	0.71417	0.928000	0.36995	0.007000	0.05969	2.867000	0.48428	0.046000	0.15833	-0.145000	0.13849	AGC		0.433	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
DPY19L2	283417	broad.mit.edu	37	12	64062000	64062000	+	Silent	SNP	C	C	T	rs34588711		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:64062000C>T	ENST00000324472.4	-	1	357	c.174G>A	c.(172-174)agG>agA	p.R58R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	58					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.R58R(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)		GACTTTGGATCCTCCCCGGGG	0.627																																					p.R58R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G174A	12						.						57.0	66.0	63.0					12																	64062000		2203	4300	6503	62348267	SO:0001819	synonymous_variant	283417	exon1				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.174G>A	12.37:g.64062000C>T			62348267	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	CCDS31851.1																																																																																				0.627	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	
SRGAP1	57522	broad.mit.edu	37	12	64536267	64536267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:64536267C>T	ENST00000355086.3	+	22	3597	c.3073C>T	c.(3073-3075)Cga>Tga	p.R1025*	SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.R962*|SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.R1002*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1025					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R1025*(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCTCAGATTCGACGTAGCAC	0.562																																					p.R1025X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3073T	12						.						129.0	105.0	113.0					12																	64536267		2203	4300	6503	62822534	SO:0001587	stop_gained	57522	exon22			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3073C>T	12.37:g.64536267C>T	ENSP00000347198:p.Arg1025*		62822534	NM_020762	Q9H8A3|Q9P2P2	Nonsense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	49	15.748010	0.99844	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	.	.	.	6.04	6.04	0.98038	.	0.000000	0.31949	U	0.006805	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1002;962	.	.	R	+	1	2	SRGAP1	62822534	0.999000	0.42202	0.984000	0.44739	0.050000	0.14768	7.539000	0.82063	2.873000	0.98535	0.563000	0.77884	CGA		0.562	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
C12orf56	115749	broad.mit.edu	37	12	64746753	64746753	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:64746753C>A	ENST00000543942.2	-	2	962	c.336G>T	c.(334-336)ttG>ttT	p.L112F	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.L112F|snoU13_ENST00000459220.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	112								p.L112F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACTCTTTTTTCAAAACGGTTG	0.338																																					p.L112F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G336T	12						.						119.0	112.0	114.0					12																	64746753		1832	4078	5910	63033020	SO:0001583	missense	115749	exon2				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.336G>T	12.37:g.64746753C>A	ENSP00000446101:p.Leu112Phe		63033020	NM_001170633		Missense_Mutation	SNP	ENST00000543942.2	37		.	.	.	.	.	.	.	.	.	.	c	9.590	1.125904	0.20959	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716;ENST00000543259	.	.	.	4.05	2.2	0.27929	.	0.949533	0.08556	N	0.928316	T	0.59918	0.2229	M	0.70595	2.14	0.24168	N	0.995639	D	0.76494	0.999	D	0.79108	0.992	T	0.38585	-0.9654	8	.	.	.	-4.9984	6.2638	0.20915	0.0:0.7681:0.0:0.2319	.	112	Q8IXR9-2	.	F	112;112;112;99	.	.	L	-	3	2	C12orf56	63033020	1.000000	0.71417	0.992000	0.48379	0.129000	0.20672	0.494000	0.22467	0.483000	0.27608	0.651000	0.88453	TTG		0.338	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676	
XPOT	11260	broad.mit.edu	37	12	64815202	64815202	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:64815202C>A	ENST00000332707.5	+	9	1560	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	344	Necessary for interaction with Ran, nuclear localization and nuclear import.				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.S344Y(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)		GATGATATTTCTTCTAATATT	0.313																																					p.S344Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1031A	12						.						97.0	102.0	100.0					12																	64815202		2203	4300	6503	63101469	SO:0001583	missense	11260	exon9			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.1031C>A	12.37:g.64815202C>A	ENSP00000327821:p.Ser344Tyr		63101469	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124988	0.56613	.	.	ENSG00000184575	ENST00000332707	T	0.68025	-0.3	4.92	4.92	0.64577	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81819	0.4903	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.81872	-0.0733	9	.	.	.	.	19.0104	0.92871	0.0:1.0:0.0:0.0	.	344	O43592	XPOT_HUMAN	Y	344	ENSP00000327821:S344Y	.	S	+	2	0	XPOT	63101469	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.599000	0.82757	2.664000	0.90586	0.655000	0.94253	TCT		0.313	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
XPOT	11260	broad.mit.edu	37	12	64819643	64819643	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	
GRIP1	23426	broad.mit.edu	37	12	66771051	66771051	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:66771051G>A	ENST00000398016.3	-	20	2548	c.2480C>T	c.(2479-2481)gCc>gTc	p.A827V	GRIP1_ENST00000286445.7_Missense_Mutation_p.A879V|GRIP1_ENST00000359742.4_Missense_Mutation_p.A879V	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.A827V(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)		TGCACTATCGGCAGCCCCTGC	0.478																																					p.A827V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2480T	12						.						123.0	121.0	121.0					12																	66771051		1851	4087	5938	65057318	SO:0001583	missense	23426	exon20			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.2480C>T	12.37:g.66771051G>A	ENSP00000381098:p.Ala827Val		65057318	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.697|1.697	-0.502544|-0.502544	0.04261|0.04261	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.76968|.	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06|.	5.8|5.8	3.75|3.75	0.43078|0.43078	.|.	0.312407|.	0.38778|.	N|.	0.001577|.	T|T	0.33498|0.33498	0.0865|0.0865	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.16396|.	0.009;0.01;0.001;0.017|.	B;B;B;B|.	0.22152|.	0.038;0.013;0.006;0.029|.	T|T	0.19614|0.19614	-1.0300|-1.0300	9|5	.|.	.|.	.|.	-2.1052|-2.1052	12.1571|12.1571	0.54083|0.54083	0.0:0.1066:0.7287:0.1646|0.0:0.1066:0.7287:0.1646	.|.	827;879;827;879|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	V|S	827;879;879;827;771;719|694	ENSP00000381098:A827V;ENSP00000352780:A879V;ENSP00000286445:A879V;ENSP00000446047:A827V;ENSP00000446024:A771V;ENSP00000446011:A719V|.	.|.	A|P	-|-	2|1	0|0	GRIP1|GRIP1	65057318|65057318	0.984000|0.984000	0.35163|0.35163	0.028000|0.028000	0.17463|0.17463	0.001000|0.001000	0.01503|0.01503	1.944000|1.944000	0.40263|0.40263	1.423000|1.423000	0.47198|0.47198	0.650000|0.650000	0.86243|0.86243	GCC|CCG		0.478	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
GRIP1	23426	broad.mit.edu	37	12	66839253	66839253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:66839253G>A	ENST00000398016.3	-	11	1302	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	GRIP1_ENST00000286445.7_Nonsense_Mutation_p.Q464*|GRIP1_ENST00000359742.4_Nonsense_Mutation_p.Q464*	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.Q412*(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)		TGAACAACCTGCCCAGCCAAT	0.498																																					p.Q412X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1234T	12						.						57.0	59.0	59.0					12																	66839253		1938	4143	6081	65125520	SO:0001587	stop_gained	23426	exon11			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.1234C>T	12.37:g.66839253G>A	ENSP00000381098:p.Gln412*		65125520	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Nonsense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.243114|4.243114	0.79912|0.79912	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.73976|.	0.3656|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.74191|.	-0.3745|.	3|.	.|.	.|.	.|.	-10.7949|-10.7949	18.1423|18.1423	0.89643|0.89643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	231|412;464;464;412;356;304	.|.	.|.	A|Q	-|-	2|1	0|0	GRIP1|GRIP1	65125520|65125520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.471000|9.471000	0.97696|0.97696	2.275000|2.275000	0.75901|0.75901	0.442000|0.442000	0.29010|0.29010	GCA|CAG		0.498	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
NUP107	57122	broad.mit.edu	37	12	69126515	69126515	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:69126515C>A	ENST00000229179.4	+	23	2429	c.2097C>A	c.(2095-2097)ttC>ttA	p.F699L	NUP107_ENST00000378905.2_Missense_Mutation_p.F460L|NUP107_ENST00000401003.3_3'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.F670L	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	699					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 complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.F699L(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGAGAAAATTCTTGGGTATAG	0.448																																					p.F699L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2097A	12						.						63.0	72.0	69.0					12																	69126515		2203	4300	6503	67412782	SO:0001583	missense	57122	exon23			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2097C>A	12.37:g.69126515C>A	ENSP00000229179:p.Phe699Leu		67412782	NM_020401	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735233	0.48939	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.1	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.83118	2.625	0.26633	N	0.972428	D;B;D	0.89917	0.999;0.015;1.0	D;B;D	0.79784	0.984;0.026;0.993	T	0.64791	-0.6324	8	.	.	.	-10.556	12.9222	0.58239	0.0:0.9154:0.0:0.0846	.	670;460;699	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	L	699;460;670	.	.	F	+	3	2	NUP107	67412782	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	2.031000	0.41117	1.385000	0.46445	0.655000	0.94253	TTC		0.448	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
SLC35E3	55508	broad.mit.edu	37	12	69141803	69141803	+	Missense_Mutation	SNP	A	A	G	rs267603646		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:69141803A>G	ENST00000398004.2	+	2	768	c.496A>G	c.(496-498)Aca>Gca	p.T166A		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	166						integral component of membrane (GO:0016021)		p.T166A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGTTTTAGTTACATCCCTTTA	0.313																																					p.T166A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A496G	12						.						214.0	201.0	205.0					12																	69141803		1855	4080	5935	67428070	SO:0001583	missense	55508	exon2			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.496A>G	12.37:g.69141803A>G	ENSP00000381089:p.Thr166Ala		67428070	NM_018656	A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	ENST00000398004.2	37	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.817267	0.70912	.	.	ENSG00000175782	ENST00000398004	T	0.63096	-0.02	4.83	4.83	0.62350	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.80616	2.505	0.80722	D	1	P	0.39782	0.688	P	0.45712	0.491	T	0.72956	-0.4134	9	.	.	.	-11.0392	14.7104	0.69225	1.0:0.0:0.0:0.0	.	166	Q7Z769	S35E3_HUMAN	A	166	ENSP00000381089:T166A	.	T	+	1	0	SLC35E3	67428070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.927000	0.92846	1.944000	0.56390	0.528000	0.53228	ACA		0.313	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656	
FRS2	10818	broad.mit.edu	37	12	69968515	69968515	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:69968515A>G	ENST00000550389.1	+	7	1553	c.1307A>G	c.(1306-1308)tAc>tGc	p.Y436C	FRS2_ENST00000397997.2_Missense_Mutation_p.Y436C|FRS2_ENST00000549921.1_Missense_Mutation_p.Y436C|FRS2_ENST00000299293.2_Missense_Mutation_p.Y436C	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	436					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y436C(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGCTTAATTACATACAGGTT	0.473																																					p.Y436C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1307G	12						.						70.0	75.0	74.0					12																	69968515		2074	4217	6291	68254782	SO:0001583	missense	10818	exon10			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1307A>G	12.37:g.69968515A>G	ENSP00000447241:p.Tyr436Cys		68254782	NM_001042555	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475255	0.63737	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	6.17	6.17	0.99709	.	0.105878	0.64402	D	0.000003	T	0.67552	0.2905	M	0.65975	2.015	0.58432	D	0.999997	D	0.76494	0.999	D	0.77557	0.99	T	0.66567	-0.5891	9	.	.	.	-16.4731	16.8222	0.85835	1.0:0.0:0.0:0.0	.	436	Q8WU20	FRS2_HUMAN	C	436	ENSP00000299293:Y436C;ENSP00000450048:Y436C;ENSP00000447241:Y436C;ENSP00000381083:Y436C	.	Y	+	2	0	FRS2	68254782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TAC		0.473	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654	
CNOT2	4848	broad.mit.edu	37	12	70723217	70723217	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:70723217C>T	ENST00000418359.3	+	6	704	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.P85S	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	85					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.P85S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACTAGGCCTTCCAATGAGGGG	0.448																																					p.P85S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C253T	12						.						99.0	88.0	92.0					12																	70723217		2203	4300	6503	69009484	SO:0001583	missense	4848	exon5			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.253C>T	12.37:g.70723217C>T	ENSP00000412091:p.Pro85Ser		69009484	NM_001199303	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628516	0.28978	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000551132;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000550194	T;T;T;T	0.43688	0.94;0.94;0.96;0.94	5.5	5.5	0.81552	.	0.120945	0.64402	D	0.000015	T	0.26484	0.0647	N	0.08118	0	0.38588	D	0.950359	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.27785	T	0.31	-5.3119	17.5881	0.87988	0.0:1.0:0.0:0.0	.	85	Q9NZN8	CNOT2_HUMAN	S	85;85;85;65;85;65;76;85;85;85	ENSP00000229195:P85S;ENSP00000412091:P85S;ENSP00000449659:P76S;ENSP00000449260:P85S	ENSP00000229195:P85S	P	+	1	0	CNOT2	69009484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.698000	0.47068	2.586000	0.87340	0.460000	0.39030	CCA		0.448	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1		
CNOT2	4848	broad.mit.edu	37	12	70724190	70724190	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:70724190G>A	ENST00000418359.3	+	7	961	c.510G>A	c.(508-510)tcG>tcA	p.S170S	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Silent_p.S170S	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	170					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.S170S(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACAGAAGCTCGCCAAGCATAA	0.453																																					p.S170S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G510A	12						.						145.0	137.0	140.0					12																	70724190		2203	4300	6503	69010457	SO:0001819	synonymous_variant	4848	exon6			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.510G>A	12.37:g.70724190G>A			69010457	NM_001199303	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	CCDS31857.1																																																																																				0.453	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1		
PTPRB	5787	broad.mit.edu	37	12	70963549	70963549	+	Silent	SNP	C	C	T	rs372359958		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:70963549C>T	ENST00000261266.5	-	12	2915	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	PTPRB_ENST00000538708.1_Silent_p.T962T|PTPRB_ENST00000334414.6_Silent_p.T1180T|PTPRB_ENST00000550358.1_Silent_p.T1092T|PTPRB_ENST00000551525.1_Silent_p.T1179T|PTPRB_ENST00000550857.1_Silent_p.T872T|PTPRB_ENST00000451516.2_Silent_p.T872T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	962	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T1180T(1)|p.T962T(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCTGTGGAACGTGTGCTCAA	0.542													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16713	0.0		0.0	False		,,,				2504	0.0				p.T1180T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3540A	12						.	T	,,,	4,4240		0,4,2118	89.0	91.0	90.0		3540,2616,2886,2886	-10.9	0.2	12		90	0,8470		0,0,4235	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	,,,	0,4,6353	TT,TC,CC		0.0,0.0943,0.0315	,,,	1180/2216,872/1908,962/1908,962/1998	70963549	4,12710	2122	4235	6357	69249816	SO:0001819	synonymous_variant	5787	exon14			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2886G>A	12.37:g.70963549C>T			69249816	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																				0.542	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
PTPRB	5787	broad.mit.edu	37	12	70965607	70965607	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:70965607T>C	ENST00000261266.5	-	10	2478	c.2449A>G	c.(2449-2451)Aca>Gca	p.T817A	PTPRB_ENST00000538708.1_Missense_Mutation_p.T817A|PTPRB_ENST00000334414.6_Missense_Mutation_p.T1035A|PTPRB_ENST00000550358.1_Missense_Mutation_p.T947A|PTPRB_ENST00000551525.1_Missense_Mutation_p.T1034A|PTPRB_ENST00000550857.1_Missense_Mutation_p.T727A|PTPRB_ENST00000451516.2_Missense_Mutation_p.T727A	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	817	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T817A(1)|p.T1035A(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACTTACTTGTTCTCCCATTC	0.383																																					p.T1035A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3103G	12						.						171.0	170.0	170.0					12																	70965607		1889	4105	5994	69251874	SO:0001583	missense	5787	exon12			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2449A>G	12.37:g.70965607T>C	ENSP00000261266:p.Thr817Ala		69251874	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101458	0.76983	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	M	0.83118	2.625	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.984;1.0;0.998;0.997	D;D;D;D;D;D;D	0.78314	0.987;0.991;0.987;0.932;0.987;0.948;0.97	T	0.01448	-1.1352	10	0.66056	D	0.02	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	727;817;914;1034;1035;817;947	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	A	1035;727;947;817;727;817;1034;914	ENSP00000334928:T1035A;ENSP00000393028:T727A;ENSP00000448058:T947A;ENSP00000438927:T817A;ENSP00000447302:T727A;ENSP00000261266:T817A;ENSP00000448349:T1034A;ENSP00000446982:T914A	ENSP00000261266:T817A	T	-	1	0	PTPRB	69251874	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.693000	0.74582	2.371000	0.80710	0.533000	0.62120	ACA		0.383	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
TPH2	121278	broad.mit.edu	37	12	72425414	72425414	+	Missense_Mutation	SNP	G	G	A	rs138642957		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:72425414G>A	ENST00000333850.3	+	11	1553	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	471					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.R471H(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAGGACCTTCGCAGCGACTTG	0.413																																					p.R471H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1412A	12						.	G	HIS/ARG	0,4406		0,0,2203	172.0	166.0	168.0		1412	5.9	1.0	12	dbSNP_134	168	2,8598	2.2+/-6.3	0,2,4298	no	missense	TPH2	NM_173353.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	471/491	72425414	2,13004	2203	4300	6503	70711681	SO:0001583	missense	121278	exon11			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1412G>A	12.37:g.72425414G>A	ENSP00000329093:p.Arg471His		70711681	NM_173353	A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882661	0.91740	0.0	2.33E-4	ENSG00000139287	ENST00000333850	D	0.99557	-6.16	5.86	5.86	0.93980	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.99250	1.0887	10	0.52906	T	0.07	-18.6858	20.1858	0.98214	0.0:0.0:1.0:0.0	.	471	Q8IWU9	TPH2_HUMAN	H	471	ENSP00000329093:R471H	ENSP00000329093:R471H	R	+	2	0	TPH2	70711681	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	CGC		0.413	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	
ZDHHC17	23390	broad.mit.edu	37	12	77244667	77244667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:77244667C>T	ENST00000426126.2	+	17	2450	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R601*	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	601					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.R601*(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CTTTGAATTTCGATGCTGTGG	0.403																																					p.R601X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1801T	12						.						153.0	152.0	152.0					12																	77244667		1863	4114	5977	75768798	SO:0001587	stop_gained	23390	exon17			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1801C>T	12.37:g.77244667C>T	ENSP00000403397:p.Arg601*		75768798	NM_015336	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Nonsense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	42	9.556370	0.99204	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	.	.	.	5.38	4.43	0.53597	.	0.223980	0.45126	D	0.000391	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9375	11.4809	0.50324	0.3576:0.6424:0.0:0.0	.	.	.	.	X	601	.	ENSP00000334868:R601X	R	+	1	2	ZDHHC17	75768798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.822000	0.55708	2.526000	0.85167	0.563000	0.77884	CGA		0.403	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336	
E2F7	144455	broad.mit.edu	37	12	77427729	77427729	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:77427729G>A	ENST00000322886.7	-	8	1452	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	E2F7_ENST00000416496.2_Missense_Mutation_p.A406V	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	406					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.A406V(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						ACCATGGCGAGCCAGCTTCTG	0.448																																					p.A406V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1217T	12						.						118.0	106.0	110.0					12																	77427729		2203	4300	6503	75951860	SO:0001583	missense	144455	exon8			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.1217C>T	12.37:g.77427729G>A	ENSP00000323246:p.Ala406Val		75951860	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828777	0.50845	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.18338	2.48;2.22;2.22	6.17	5.27	0.74061	.	0.707576	0.15152	N	0.277641	T	0.13970	0.0338	L	0.36672	1.1	0.28290	N	0.923597	B	0.11235	0.004	B	0.08055	0.003	T	0.18840	-1.0324	10	0.17832	T	0.49	-7.3967	11.1889	0.48673	0.1409:0.0:0.8591:0.0	.	406	Q96AV8	E2F7_HUMAN	V	406	ENSP00000323246:A406V;ENSP00000393639:A406V;ENSP00000448245:A406V	ENSP00000323246:A406V	A	-	2	0	E2F7	75951860	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	3.206000	0.51098	1.596000	0.50062	0.655000	0.94253	GCT		0.448	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
NAV3	89795	broad.mit.edu	37	12	78400316	78400316	+	Missense_Mutation	SNP	G	G	A	rs557942798		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:78400316G>A	ENST00000397909.2	+	8	1171	c.998G>A	c.(997-999)cGc>cAc	p.R333H	NAV3_ENST00000536525.2_Missense_Mutation_p.R333H|NAV3_ENST00000228327.6_Missense_Mutation_p.R333H|NAV3_ENST00000266692.7_Missense_Mutation_p.R333H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	333						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R333H(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGCCCTGGCGCAGCAAGTCC	0.552										HNSCC(70;0.22)																											p.R333H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	12						.						58.0	61.0	60.0					12																	78400316		2089	4222	6311	76924447	SO:0001583	missense	89795	exon8			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.998G>A	12.37:g.78400316G>A	ENSP00000381007:p.Arg333His		76924447	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	32	5.127584	0.94473	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.5	5.5	0.81552	.	0.000000	0.41097	U	0.000949	T	0.62829	0.2460	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.64381	-0.6421	10	0.87932	D	0	-13.2715	19.3844	0.94551	0.0:0.0:1.0:0.0	.	333;333	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	333	ENSP00000446628:R333H;ENSP00000446132:R333H;ENSP00000381007:R333H;ENSP00000228327:R333H;ENSP00000266692:R333H	ENSP00000228327:R333H	R	+	2	0	NAV3	76924447	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.619000	0.98369	2.575000	0.86900	0.561000	0.74099	CGC		0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PPFIA2	8499	broad.mit.edu	37	12	81733022	81733022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:81733022C>A	ENST00000549396.1	-	21	2645	c.2485G>T	c.(2485-2487)Gga>Tga	p.G829*	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.G46*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.G396*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.G811*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.G811*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.G676*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.G829*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.G755*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.G730*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.G829*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.G829*	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	829					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.G829*(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						GACTTGATTCCTTTCTTCTTG	0.458																																					p.G829X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2485T	12						.						160.0	156.0	157.0					12																	81733022		1856	4109	5965	80257153	SO:0001587	stop_gained	8499	exon21			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.2485G>T	12.37:g.81733022C>A	ENSP00000450337:p.Gly829*		80257153	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	39	7.497851	0.98322	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-26.7059	19.7201	0.96139	0.0:1.0:0.0:0.0	.	.	.	.	X	829;811;396;46;755;840;811;829;730;829	.	ENSP00000327416:G811X	G	-	1	0	PPFIA2	80257153	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	7.776000	0.85560	2.661000	0.90470	0.561000	0.74099	GGA		0.458	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
PPFIA2	8499	broad.mit.edu	37	12	81769685	81769685	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:81769685T>G	ENST00000549396.1	-	10	1181	c.1021A>C	c.(1021-1023)Aca>Cca	p.T341P	PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T323P|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T323P|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T188P|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T341P|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T267P|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T242P|PPFIA2_ENST00000550584.2_Missense_Mutation_p.T341P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T341P|RP11-315E17.1_ENST00000546936.1_RNA	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	341	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.T341P(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						TCAAGGGTTGTAATTCTTTCT	0.323																																					p.T341P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1021C	12						.						222.0	202.0	208.0					12																	81769685		1878	4139	6017	80293816	SO:0001583	missense	8499	exon10			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.1021A>C	12.37:g.81769685T>G	ENSP00000450337:p.Thr341Pro		80293816	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.39|18.39	3.613161|3.613161	0.66672|0.66672	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000548790|ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.|T;T;T;T;T;T;T	.|0.78246	.|1.24;1.24;1.24;-1.16;1.24;1.24;1.24	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.129904	.|0.52532	.|D	.|0.000067	D|D	0.82623|0.82623	0.5077|0.5077	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|P;D	.|0.55385	.|0.936;0.971	.|P;B	.|0.48227	.|0.571;0.446	D|D	0.85873|0.85873	0.1417|0.1417	5|10	.|0.66056	.|D	.|0.02	-13.4936|-13.4936	15.3154|15.3154	0.74074|0.74074	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|241;341	.|B7Z4H8;O75334	.|.;LIPA2_HUMAN	F|P	158|341;323;267;352;323;341;242;341	.|ENSP00000450337:T341P;ENSP00000450298:T323P;ENSP00000385093:T267P;ENSP00000327416:T323P;ENSP00000449338:T341P;ENSP00000388373:T242P;ENSP00000447868:T341P	.|ENSP00000327416:T323P	L|T	-|-	3|1	2|0	PPFIA2|PPFIA2	80293816|80293816	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	3.241000|3.241000	0.51376|0.51376	2.078000|2.078000	0.62432|0.62432	0.528000|0.528000	0.53228|0.53228	TTA|ACA		0.323	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
CCDC59	29080	broad.mit.edu	37	12	82747002	82747002	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:82747002C>A	ENST00000256151.7	-	4	1065	c.654G>T	c.(652-654)aaG>aaT	p.K218N	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K218N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CCTTTTTAGTCTTTTTGTTCA	0.318																																					p.K218N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G654T	12						.						163.0	151.0	155.0					12																	82747002		2203	4299	6502	81271133	SO:0001583	missense	29080	exon4			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.654G>T	12.37:g.82747002C>A	ENSP00000256151:p.Lys218Asn		81271133	NM_014167	Q9H2V5|Q9NW62	Missense_Mutation	SNP	ENST00000256151.7	37	CCDS9023.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016986	0.75161	.	.	ENSG00000133773	ENST00000256151	.	.	.	5.87	4.03	0.46877	.	0.049581	0.85682	D	0.000000	T	0.76772	0.4034	M	0.86268	2.805	0.52501	D	0.999959	D	0.60575	0.988	D	0.63283	0.913	T	0.79690	-0.1698	9	0.87932	D	0	-29.6919	9.3493	0.38129	0.0:0.7767:0.0:0.2233	.	218	Q9P031	TAP26_HUMAN	N	218	.	ENSP00000256151:K218N	K	-	3	2	CCDC59	81271133	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.127000	0.31357	1.487000	0.48415	0.650000	0.86243	AAG		0.318	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167	
RASSF9	9182	broad.mit.edu	37	12	86198722	86198722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:86198722C>A	ENST00000361228.3	-	2	1434	c.1066G>T	c.(1066-1068)Gaa>Taa	p.E356*		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	356					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.E356*(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTCATATTCTTTTGCTTTC	0.403																																					p.E356X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1066T	12						.						175.0	176.0	176.0					12																	86198722		1852	4099	5951	84722853	SO:0001587	stop_gained	9182	exon2				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1066G>T	12.37:g.86198722C>A	ENSP00000354884:p.Glu356*		84722853	NM_005447	B3KMQ4|Q8N5U8	Nonsense_Mutation	SNP	ENST00000361228.3	37	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	38	6.729916	0.97796	.	.	ENSG00000198774	ENST00000361228	.	.	.	5.2	4.32	0.51571	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.4823	14.3508	0.66699	0.0:0.9279:0.0:0.0721	.	.	.	.	X	356	.	ENSP00000354884:E356X	E	-	1	0	RASSF9	84722853	1.000000	0.71417	0.921000	0.36526	0.866000	0.49608	5.674000	0.68117	1.334000	0.45468	-0.133000	0.14855	GAA		0.403	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1		
MGAT4C	25834	broad.mit.edu	37	12	86373762	86373762	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:86373762A>G	ENST00000604798.1	-	8	1946	c.742T>C	c.(742-744)Tac>Cac	p.Y248H	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.Y248H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.Y248H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.Y277H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.Y248H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.Y248H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	248					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.Y248H(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						GTTACCCAGTAAGTTCCTTCT	0.348																																					p.Y248H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T742C	12						.						69.0	66.0	67.0					12																	86373762		2203	4300	6503	84897893	SO:0001583	missense	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.742T>C	12.37:g.86373762A>G	ENSP00000474896:p.Tyr248His		84897893	NM_013244	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292414	0.23564	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.79	4.61	0.57282	.	0.212371	0.41294	D	0.000918	T	0.78110	0.4232	N	0.24115	0.695	0.40829	D	0.983572	P;P	0.51147	0.942;0.942	P;P	0.47864	0.559;0.478	T	0.78147	-0.2317	10	0.42905	T	0.14	-1.84	8.3793	0.32461	0.733:0.1366:0.0:0.1304	.	277;248	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	248;277;248;248;248;248;248	ENSP00000331664:Y248H;ENSP00000376900:Y277H;ENSP00000449022:Y248H;ENSP00000446647:Y248H;ENSP00000447253:Y248H;ENSP00000449172:Y248H	ENSP00000331664:Y248H	Y	-	1	0	MGAT4C	84897893	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	5.216000	0.65246	2.198000	0.70561	0.533000	0.62120	TAC		0.348	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
CEP290	80184	broad.mit.edu	37	12	88444181	88444181	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:88444181C>A	ENST00000552810.1	-	53	7502	c.7159G>T	c.(7159-7161)Gat>Tat	p.D2387Y	RNA5SP364_ENST00000516938.1_RNA|CEP290_ENST00000309041.7_Missense_Mutation_p.D2389Y|CEP290_ENST00000547691.2_Missense_Mutation_p.D1447Y|CEP290_ENST00000397838.3_Missense_Mutation_p.D1447Y	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2387					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.D2389Y(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						GTCTCTAGATCTTTTATTTTT	0.313																																					p.D2387Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7159T	12						.						93.0	80.0	84.0					12																	88444181		1808	4074	5882	86968312	SO:0001583	missense	80184	exon53			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.7159G>T	12.37:g.88444181C>A	ENSP00000448012:p.Asp2387Tyr		86968312	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392382	0.62066	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66815	0.35;-0.23;-0.23;0.35	5.01	4.06	0.47325	.	0.463226	0.24240	N	0.040266	T	0.72153	0.3425	L	0.51422	1.61	0.09310	N	1	D	0.61080	0.989	P	0.56514	0.8	T	0.65994	-0.6033	10	0.87932	D	0	.	14.0699	0.64854	0.0:0.8339:0.1661:0.0	.	2387	O15078	CE290_HUMAN	Y	1447;2387;2389;1447	ENSP00000446905:D1447Y;ENSP00000448012:D2387Y;ENSP00000308021:D2389Y;ENSP00000380938:D1447Y	ENSP00000308021:D2389Y	D	-	1	0	CEP290	86968312	0.689000	0.27690	0.964000	0.40570	0.998000	0.95712	2.557000	0.45871	2.346000	0.79739	0.655000	0.94253	GAT		0.313	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88471632	88471632	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:88471632T>G	ENST00000552810.1	-	40	5771	c.5428A>C	c.(5428-5430)Aac>Cac	p.N1810H	CEP290_ENST00000309041.7_Missense_Mutation_p.N1812H|CEP290_ENST00000547691.2_Missense_Mutation_p.N870H|CEP290_ENST00000397838.3_Missense_Mutation_p.N870H	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1810					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.N1812H(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						TTTTCTCTGTTTTTACTTGTT	0.254																																					p.N1810H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5428C	12						.						58.0	50.0	52.0					12																	88471632		1759	4010	5769	86995763	SO:0001583	missense	80184	exon40			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.5428A>C	12.37:g.88471632T>G	ENSP00000448012:p.Asn1810His		86995763	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833912	0.50951	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.64260	0.49;-0.09;-0.09;0.49	5.57	5.57	0.84162	.	0.587225	0.20554	N	0.090060	T	0.60741	0.2292	L	0.57536	1.79	0.30719	N	0.748496	P	0.42123	0.771	B	0.42995	0.404	T	0.67248	-0.5718	10	0.48119	T	0.1	.	10.6053	0.45390	0.1436:0.0:0.0:0.8563	.	1810	O15078	CE290_HUMAN	H	870;1810;1812;870	ENSP00000446905:N870H;ENSP00000448012:N1810H;ENSP00000308021:N1812H;ENSP00000380938:N870H	ENSP00000308021:N1812H	N	-	1	0	CEP290	86995763	0.972000	0.33761	0.970000	0.41538	0.939000	0.58152	1.698000	0.37794	2.118000	0.64928	0.377000	0.23210	AAC		0.254	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88487723	88487723	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:88487723T>G	ENST00000552810.1	-	28	3476	c.3133A>C	c.(3133-3135)Aaa>Caa	p.K1045Q	CEP290_ENST00000309041.7_Missense_Mutation_p.K1047Q|CEP290_ENST00000547691.2_Missense_Mutation_p.K105Q|CEP290_ENST00000397838.3_Missense_Mutation_p.K105Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1045					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.K1047Q(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						GTTATTGATTTCTTTGCCTTA	0.313																																					p.K1045Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3133C	12						.						60.0	59.0	59.0					12																	88487723		1835	4093	5928	87011854	SO:0001583	missense	80184	exon28			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.3133A>C	12.37:g.88487723T>G	ENSP00000448012:p.Lys1045Gln		87011854	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.107213	0.77096	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.67523	0.23;-0.27;-0.27;0.23	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.77883	0.4197	M	0.64997	1.995	0.44862	D	0.997876	D	0.76494	0.999	D	0.73708	0.981	T	0.73943	-0.3823	10	0.17832	T	0.49	.	15.8884	0.79273	0.0:0.0:0.0:1.0	.	1045	O15078	CE290_HUMAN	Q	105;1045;1047;105	ENSP00000446905:K105Q;ENSP00000448012:K1045Q;ENSP00000308021:K1047Q;ENSP00000380938:K105Q	ENSP00000308021:K1047Q	K	-	1	0	CEP290	87011854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.694000	0.84235	2.147000	0.66899	0.383000	0.25322	AAA		0.313	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88500575	88500575	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:88500575C>T	ENST00000552810.1	-	25	3037	c.2694G>A	c.(2692-2694)agG>agA	p.R898R	CEP290_ENST00000309041.7_Silent_p.R900R|CEP290_ENST00000547691.2_5'Flank|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	898					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.R900R(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						TTGTATATTGCCTTATAAGTG	0.318																																					p.R898R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2694A	12						.						90.0	79.0	83.0					12																	88500575		1807	4072	5879	87024706	SO:0001819	synonymous_variant	80184	exon25			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.2694G>A	12.37:g.88500575C>T			87024706	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	CCDS55858.1																																																																																				0.318	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88512431	88512431	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:88512431G>T	ENST00000552810.1	-	16	1955	c.1612C>A	c.(1612-1614)Ctt>Att	p.L538I	CEP290_ENST00000309041.7_Missense_Mutation_p.L538I|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	538					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.L538I(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						TCTTTCAAAAGAATCTGGTTT	0.333																																					p.L538I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1612A	12						.						123.0	115.0	118.0					12																	88512431		1818	4074	5892	87036562	SO:0001583	missense	80184	exon16			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.1612C>A	12.37:g.88512431G>T	ENSP00000448012:p.Leu538Ile		87036562	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735642	0.89482	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	D;T	0.83992	-1.79;-0.56	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.90280	0.6960	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.91;0.996	D	0.88129	0.2837	10	0.32370	T	0.25	.	19.4827	0.95016	0.0:0.0:1.0:0.0	.	538;538	Q05BJ6;O15078	.;CE290_HUMAN	I	538;538;538;440	ENSP00000448012:L538I;ENSP00000308021:L538I	ENSP00000308021:L538I	L	-	1	0	CEP290	87036562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.010000	0.93611	2.601000	0.87937	0.585000	0.79938	CTT		0.333	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CCER1	196477	broad.mit.edu	37	12	91348504	91348504	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:91348504C>T	ENST00000358859.2	-	1	449	c.16G>A	c.(16-18)Gac>Aac	p.D6N	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	6								p.D6N(1)									TCCCTTGTGTCGAGGGTCTGA	0.632																																					p.D6N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16A	12						.						9.0	6.0	7.0					12																	91348504		2098	4119	6217	89872635	SO:0001583	missense	196477	exon1			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.16G>A	12.37:g.91348504C>T	ENSP00000351727:p.Asp6Asn		89872635	NM_152638	Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	0.094	-1.162785	0.01673	.	.	ENSG00000197651	ENST00000358859	T	0.29917	1.55	5.08	-10.2	0.00374	.	0.714427	0.11519	N	0.555864	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.14868	-1.0457	10	0.10111	T	0.7	-3.3982	2.0672	0.03605	0.2479:0.1122:0.164:0.4758	.	6	Q8TC90	CL012_HUMAN	N	6	ENSP00000351727:D6N	ENSP00000351727:D6N	D	-	1	0	C12orf12	89872635	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.971000	0.00668	-4.168000	0.00068	-0.672000	0.03802	GAC		0.632	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
PLXNC1	10154	broad.mit.edu	37	12	94580195	94580195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:94580195C>T	ENST00000258526.4	+	4	1634	c.1385C>T	c.(1384-1386)tCg>tTg	p.S462L	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	462					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.S462L(2)		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						AAATCCTGTTCGGAGTGTTTA	0.418																																					p.S462L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1385T	12						.						133.0	116.0	122.0					12																	94580195		2203	4300	6503	93104326	SO:0001583	missense	10154	exon4			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.1385C>T	12.37:g.94580195C>T	ENSP00000258526:p.Ser462Leu		93104326	NM_005761	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423077	0.25639	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.20463	2.07;2.07	5.51	-3.88	0.04205	.	1.955300	0.02302	N	0.071282	T	0.14184	0.0343	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15752	-1.0426	10	0.33940	T	0.23	.	1.7802	0.03030	0.18:0.2594:0.1096:0.4509	.	462	O60486	PLXC1_HUMAN	L	462;78	ENSP00000258526:S462L;ENSP00000447843:S78L	ENSP00000258526:S462L	S	+	2	0	PLXNC1	93104326	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-0.497000	0.06428	-0.789000	0.04498	0.561000	0.74099	TCG		0.418	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
PLXNC1	10154	broad.mit.edu	37	12	94641745	94641745	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:94641745C>T	ENST00000258526.4	+	13	2704	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	819					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.R819C(2)|p.R819G(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						TTCAAAAGTGCGCACGAATGT	0.463																																					p.R819C												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C2455T	12						.						111.0	112.0	111.0					12																	94641745		2203	4300	6503	93165876	SO:0001583	missense	10154	exon13			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.2455C>T	12.37:g.94641745C>T	ENSP00000258526:p.Arg819Cys		93165876	NM_005761	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409414	0.42715	.	.	ENSG00000136040	ENST00000258526	T	0.77620	-1.11	6.16	5.23	0.72850	Cell surface receptor IPT/TIG (2);	0.603397	0.18399	N	0.142409	T	0.75042	0.3796	N	0.24115	0.695	0.37752	D	0.925999	D	0.61697	0.99	P	0.54210	0.745	T	0.77451	-0.2583	10	0.52906	T	0.07	.	13.2798	0.60208	0.0:0.7679:0.2321:0.0	.	819	O60486	PLXC1_HUMAN	C	819	ENSP00000258526:R819C	ENSP00000258526:R819C	R	+	1	0	PLXNC1	93165876	0.000000	0.05858	0.010000	0.14722	0.131000	0.20780	0.649000	0.24843	2.937000	0.99478	0.650000	0.86243	CGC		0.463	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
CEP83	51134	broad.mit.edu	37	12	94727303	94727303	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:94727303C>T	ENST00000397809.5	-	13	2081	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	CCDC41_ENST00000397807.2_Missense_Mutation_p.R478Q|CCDC41_ENST00000339839.5_Missense_Mutation_p.R511Q	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		503					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.R511Q(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCTAAAATTTCGGCATTCTTG	0.353																																					p.R511Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1532A	12						.						132.0	122.0	125.0					12																	94727303		1832	4081	5913	93251434	SO:0001583	missense	51134	exon13																														ENST00000397809.5:c.1532G>A	12.37:g.94727303C>T	ENSP00000380911:p.Arg511Gln		93251434	NM_016122	A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	8.896	0.955195	0.18507	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.47869	2.01;2.01;0.83	5.91	5.01	0.66863	.	.	.	.	.	T	0.30665	0.0772	L	0.31926	0.97	0.34085	D	0.659989	B;B	0.28636	0.218;0.135	B;B	0.17979	0.02;0.012	T	0.31916	-0.9926	9	0.02654	T	1	-4.5037	12.4189	0.55510	0.0:0.8596:0.0:0.1404	.	478;503	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	Q	511;511;478	ENSP00000344655:R511Q;ENSP00000380911:R511Q;ENSP00000380909:R478Q	ENSP00000344655:R511Q	R	-	2	0	CCDC41	93251434	1.000000	0.71417	0.955000	0.39395	0.099000	0.18886	2.260000	0.43267	1.485000	0.48380	0.460000	0.39030	CGA		0.353	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
CEP83	51134	broad.mit.edu	37	12	94796990	94796990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:94796990C>A	ENST00000397809.5	-	5	922	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	CCDC41_ENST00000397807.2_Nonsense_Mutation_p.E92*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.E125*|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Nonsense_Mutation_p.E125*	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		117					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.E125*(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						GTTTCTAATTCTTGTTGTATT	0.294																																					p.E125X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G373T	12						.						167.0	159.0	161.0					12																	94796990		1817	4076	5893	93321121	SO:0001587	stop_gained	51134	exon5																														ENST00000397809.5:c.373G>T	12.37:g.94796990C>A	ENSP00000380911:p.Glu125*		93321121	NM_016122	A4FVB1|Q08AP1	Nonsense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	41	9.106800	0.99068	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-3.6067	16.59	0.84762	0.0:1.0:0.0:0.0	.	.	.	.	X	125;125;92;125	.	ENSP00000344655:E125X	E	-	1	0	CCDC41	93321121	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.975000	0.70475	2.456000	0.83038	0.585000	0.79938	GAA		0.294	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
USP44	84101	broad.mit.edu	37	12	95922631	95922631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:95922631C>A	ENST00000258499.3	-	3	1864	c.1576G>T	c.(1576-1578)Gaa>Taa	p.E526*	USP44_ENST00000552440.1_Intron|USP44_ENST00000393091.2_Nonsense_Mutation_p.E526*|USP44_ENST00000537435.2_Nonsense_Mutation_p.E526*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	526	USP.				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.E526*(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						GCTTCAGTTTCTGTAAATTTG	0.398																																					p.E526X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1576T	12						.						117.0	111.0	113.0					12																	95922631		2203	4300	6503	94446762	SO:0001587	stop_gained	84101	exon3			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.1576G>T	12.37:g.95922631C>A	ENSP00000258499:p.Glu526*		94446762	NM_001042403	B2RDW3	Nonsense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	44	10.547753	0.99425	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	.	.	.	X	526	.	ENSP00000258499:E526X	E	-	1	0	USP44	94446762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.056000	0.71111	2.826000	0.97356	0.561000	0.74099	GAA		0.398	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
CCDC38	120935	broad.mit.edu	37	12	96275317	96275317	+	Silent	SNP	G	G	A	rs375290686		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:96275317G>A	ENST00000344280.3	-	11	1493	c.936C>T	c.(934-936)ttC>ttT	p.F312F	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	312								p.F312F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTCTGAACCGAAACTTTCAG	0.343																																					p.F312F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C936T	12						.	G		10,4396	16.8+/-37.8	0,10,2193	69.0	65.0	66.0		936	-1.5	0.0	12		66	0,8596		0,0,4298	no	coding-synonymous	CCDC38	NM_182496.2		0,10,6491	AA,AG,GG		0.0,0.227,0.0769		312/564	96275317	10,12992	2203	4298	6501	94799448	SO:0001819	synonymous_variant	120935	exon11			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.936C>T	12.37:g.96275317G>A			94799448	NM_182496	Q8N835	Silent	SNP	ENST00000344280.3	37	CCDS9056.1																																																																																				0.343	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496	
AMDHD1	144193	broad.mit.edu	37	12	96346565	96346565	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:96346565G>T	ENST00000266736.2	+	2	314	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	70					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.E70*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AACTTTTGAAGAAATAATTGA	0.323																																					p.E70X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G208T	12						.						75.0	82.0	80.0					12																	96346565		2203	4298	6501	94870696	SO:0001587	stop_gained	144193	exon2			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.208G>T	12.37:g.96346565G>T	ENSP00000266736:p.Glu70*		94870696	NM_152435	A8K463|Q68CI8	Nonsense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	36	5.807219	0.96967	.	.	ENSG00000139344	ENST00000266736	.	.	.	5.83	5.83	0.93111	.	0.327165	0.35903	N	0.002919	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-23.6199	7.6568	0.28379	0.193:0.0:0.807:0.0	.	.	.	.	X	70	.	ENSP00000266736:E70X	E	+	1	0	AMDHD1	94870696	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.034000	0.70933	2.765000	0.95021	0.555000	0.69702	GAA		0.323	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
AMDHD1	144193	broad.mit.edu	37	12	96354336	96354336	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:96354336G>A	ENST00000266736.2	+	5	854	c.748G>A	c.(748-750)Gga>Aga	p.G250R		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	250					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.G250R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCTTCAACGTGGAAAAGATAT	0.433																																					p.G250R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	12						.						125.0	119.0	121.0					12																	96354336		2203	4300	6503	94878467	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.748G>A	12.37:g.96354336G>A	ENSP00000266736:p.Gly250Arg		94878467	NM_152435	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723656	0.68959	.	.	ENSG00000139344	ENST00000266736	T	0.43294	0.95	5.55	5.55	0.83447	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83512	0.0081	10	0.87932	D	0	-0.9645	19.8741	0.96863	0.0:0.0:1.0:0.0	.	250	Q96NU7	HUTI_HUMAN	R	250	ENSP00000266736:G250R	ENSP00000266736:G250R	G	+	1	0	AMDHD1	94878467	1.000000	0.71417	0.982000	0.44146	0.017000	0.09413	9.062000	0.93920	2.761000	0.94854	0.655000	0.94253	GGA		0.433	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
NEDD1	121441	broad.mit.edu	37	12	97339584	97339584	+	Missense_Mutation	SNP	C	C	T	rs200348451		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:97339584C>T	ENST00000266742.4	+	14	2107	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	NEDD1_ENST00000429527.2_Missense_Mutation_p.R590C|NEDD1_ENST00000411739.2_Missense_Mutation_p.R501C|NEDD1_ENST00000557644.1_Missense_Mutation_p.R597C|NEDD1_ENST00000457368.2_Missense_Mutation_p.R501C	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	590					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.R590C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CATTCAAATTCGTTTTATTCA	0.373																																					p.R590C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1768T	12						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	118.0	111.0	113.0		1789,1768,1501,1768	5.9	1.0	12		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	NEDD1	NM_001135175.1,NM_001135176.1,NM_001135177.1,NM_152905.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	597/668,590/661,501/572,590/661	97339584	1,13005	2203	4300	6503	95863715	SO:0001583	missense	121441	exon14				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.1768C>T	12.37:g.97339584C>T	ENSP00000266742:p.Arg590Cys		95863715	NM_152905	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078601	0.36662	0.0	1.16E-4	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.47528	0.84;0.84;1.6;0.84;1.6	5.87	5.87	0.94306	.	0.370184	0.33180	N	0.005194	T	0.43255	0.1239	L	0.29908	0.895	0.39110	D	0.961456	D;D	0.65815	0.995;0.978	P;B	0.46825	0.528;0.328	T	0.47911	-0.9080	10	0.72032	D	0.01	.	14.0902	0.64984	0.2501:0.7499:0.0:0.0	.	597;590	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	C	590;590;501;597;501	ENSP00000266742:R590C;ENSP00000404978:R590C;ENSP00000411307:R501C;ENSP00000451211:R597C;ENSP00000407964:R501C	ENSP00000266742:R590C	R	+	1	0	NEDD1	95863715	0.999000	0.42202	0.966000	0.40874	0.304000	0.27724	2.485000	0.45250	2.780000	0.95670	0.655000	0.94253	CGT		0.373	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		
APAF1	317	broad.mit.edu	37	12	99071221	99071221	+	Silent	SNP	G	G	A	rs144715006		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:99071221G>A	ENST00000551964.1	+	13	2548	c.1812G>A	c.(1810-1812)acG>acA	p.T604T	APAF1_ENST00000547045.1_Silent_p.T604T|APAF1_ENST00000550527.1_Silent_p.T593T|APAF1_ENST00000359972.2_Silent_p.T593T|APAF1_ENST00000549007.1_Silent_p.T604T|APAF1_ENST00000339433.3_Silent_p.T604T|APAF1_ENST00000357310.1_Silent_p.T604T|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	604					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.T604T(2)		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)	AAAACATCACGAATCTTTCCC	0.353																																					p.T593T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1779A	12						.	G	,,,,	1,4405	2.1+/-5.4	0,1,2202	79.0	68.0	72.0		1779,1779,1812,1812,	5.9	1.0	12	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	APAF1	NM_001160.2,NM_013229.2,NM_181861.1,NM_181868.1,NM_181869.1	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	593/1195,593/1238,604/1249,604/1206,	99071221	1,13005	2203	4300	6503	97595352	SO:0001819	synonymous_variant	317	exon13			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.1812G>A	12.37:g.99071221G>A			97595352	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																				0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
ANKS1B	56899	broad.mit.edu	37	12	99192714	99192714	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:99192714G>A	ENST00000547776.2	-	21	3264	c.3265C>T	c.(3265-3267)Cgg>Tgg	p.R1089W	ANKS1B_ENST00000341752.7_Missense_Mutation_p.R95W|ANKS1B_ENST00000547446.1_Missense_Mutation_p.R224W|ANKS1B_ENST00000550693.2_Missense_Mutation_p.R279W|ANKS1B_ENST00000549558.2_Missense_Mutation_p.R255W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R1089W|ANKS1B_ENST00000546960.1_Missense_Mutation_p.R315W|ANKS1B_ENST00000549493.2_Missense_Mutation_p.R339W|ANKS1B_ENST00000549025.2_Missense_Mutation_p.R187W|ANKS1B_ENST00000333732.7_Missense_Mutation_p.R119W|ANKS1B_ENST00000332712.7_Missense_Mutation_p.R279W|ANKS1B_ENST00000546568.1_Missense_Mutation_p.R255W|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R605W	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1089	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.R1089W(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)		AGACTTACCCGCATTTTTGCA	0.338																																					p.R339W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1015T	12						.						108.0	103.0	105.0					12																	99192714		1819	4076	5895	97716845	SO:0001583	missense	56899	exon8			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.3265C>T	12.37:g.99192714G>A	ENSP00000449629:p.Arg1089Trp		97716845	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	21.8	4.205834	0.79127	.	.	ENSG00000185046	ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960	T;T;T;T;T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.93	2.78	0.32641	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000006	T	0.46308	0.1386	M	0.78049	2.395	0.46749	D	0.999184	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	0.87578	0.933;0.967;0.98;0.992;0.989;0.948;0.992;0.988;0.967;0.992;0.983;0.998;0.992	T	0.52653	-0.8547	10	0.87932	D	0	-9.3543	13.7608	0.62966	0.0:0.0:0.3226:0.6774	.	224;119;119;315;279;229;303;255;339;187;605;1089;255	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	W	95;255;1089;605;1089;604;279;187;339;224;119;255;279;180;315	ENSP00000345510:R95W;ENSP00000448993:R255W;ENSP00000449629:R1089W;ENSP00000448512:R605W;ENSP00000331381:R1089W;ENSP00000447999:R279W;ENSP00000447312:R187W;ENSP00000448203:R339W;ENSP00000450015:R224W;ENSP00000331256:R119W;ENSP00000448205:R255W;ENSP00000332683:R279W;ENSP00000447839:R315W	ENSP00000331381:R1089W	R	-	1	2	ANKS1B	97716845	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.114000	0.64648	0.803000	0.34113	0.655000	0.94253	CGG		0.338	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
ANKS1B	56899	broad.mit.edu	37	12	100200381	100200381	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:100200381C>A	ENST00000547776.2	-	4	469	c.470G>T	c.(469-471)aGa>aTa	p.R157I	ANKS1B_ENST00000329257.7_Missense_Mutation_p.R157I|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	157						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.R157I(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)		CTTGCTATTTCTAATTGTCGG	0.448																																					p.R157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470T	12						.						128.0	123.0	124.0					12																	100200381		1957	4156	6113	98724512	SO:0001583	missense	56899	exon4			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.470G>T	12.37:g.100200381C>A	ENSP00000449629:p.Arg157Ile		98724512	NM_152788	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	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461497	0.63513	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.67171	-0.25;-0.25;-0.25	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	L	0.47078	1.49	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.75786	-0.3195	9	.	.	.	-9.1552	18.9275	0.92550	0.0:1.0:0.0:0.0	.	157;157	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	I	157	ENSP00000449629:R157I;ENSP00000331381:R157I;ENSP00000449894:R157I	.	R	-	2	0	ANKS1B	98724512	1.000000	0.71417	0.847000	0.33407	0.004000	0.04260	7.802000	0.85969	2.467000	0.83353	0.557000	0.71058	AGA		0.448	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	100491190	100491190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:100491190G>A	ENST00000279907.7	-	6	834	c.622C>T	c.(622-624)Cga>Tga	p.R208*	UHRF1BP1L_ENST00000356828.3_Nonsense_Mutation_p.R208*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	208								p.R208*(2)		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						GTTATTAATCGAACAGGAGCA	0.343																																					p.R208X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C622T	12						.						158.0	134.0	142.0					12																	100491190		2203	4299	6502	99015321	SO:0001587	stop_gained	23074	exon6				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.622C>T	12.37:g.100491190G>A	ENSP00000279907:p.Arg208*		99015321	NM_001006947	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	38	7.047475	0.98025	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	.	.	.	5.45	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4312	15.9059	0.79430	0.0:0.0:0.8635:0.1365	.	.	.	.	X	208	.	ENSP00000279907:R208X	R	-	1	2	UHRF1BP1L	99015321	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.189000	0.77747	1.411000	0.46957	-0.182000	0.12963	CGA		0.343	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
SCYL2	55681	broad.mit.edu	37	12	100704946	100704946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:100704946C>A	ENST00000360820.2	+	5	1042	c.605C>A	c.(604-606)tCa>tAa	p.S202*		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.S202*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTTTGTGTATCATCAACCAAT	0.343																																					p.S202X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C605A	12						.						97.0	100.0	99.0					12																	100704946		2203	4298	6501	99229077	SO:0001587	stop_gained	55681	exon5			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.605C>A	12.37:g.100704946C>A	ENSP00000354061:p.Ser202*		99229077	NM_017988	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Nonsense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	39	7.806210	0.98501	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	.	.	.	5.18	5.18	0.71444	.	0.241631	0.42548	D	0.000694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2133	13.9085	0.63850	0.1896:0.8104:0.0:0.0	.	.	.	.	X	202;29;29;202	.	ENSP00000258506:S29X	S	+	2	0	SCYL2	99229077	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.142000	0.71750	2.563000	0.86464	0.650000	0.86243	TCA		0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
ANO4	121601	broad.mit.edu	37	12	101336195	101336195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:101336195G>A	ENST00000392977.3	+	5	548	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	ANO4_ENST00000392979.3_Missense_Mutation_p.R78Q|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.R279Q			Q32M45	ANO4_HUMAN	anoctamin 4	113					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R78Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTTTACTTTCGAGATGGAAAG	0.388										HNSCC(74;0.22)																											p.R78Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	12						.						129.0	131.0	130.0					12																	101336195		2203	4300	6503	99860326	SO:0001583	missense	121601	exon4			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.338G>A	12.37:g.101336195G>A	ENSP00000376703:p.Arg113Gln		99860326	NM_178826	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.786441	0.90367	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.42513	0.97;0.97;0.97	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.41079	1.255	0.80722	D	1	P;P	0.47604	0.898;0.792	B;B	0.36845	0.167;0.234	T	0.23013	-1.0200	10	0.66056	D	0.02	.	12.9057	0.58152	0.0744:0.0:0.9256:0.0	.	113;78	Q32M45;Q32M45-2	ANO4_HUMAN;.	Q	279;78;113	ENSP00000443751:R279Q;ENSP00000376705:R78Q;ENSP00000376703:R113Q	ENSP00000376703:R113Q	R	+	2	0	ANO4	99860326	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.910000	0.75741	2.644000	0.89710	0.655000	0.94253	CGA		0.388	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
ZNF140	7699	broad.mit.edu	37	12	133682657	133682657	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr12:133682657G>T	ENST00000355557.2	+	5	2077	c.794G>T	c.(793-795)aGa>aTa	p.R265I	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Missense_Mutation_p.R162I	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	265					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.R265I(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CGACATCAAAGAATTCACATA	0.433																																					p.R265I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794T	12						.						47.0	48.0	48.0					12																	133682657		2203	4300	6503	132192730	SO:0001583	missense	7699	exon5			U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.794G>T	12.37:g.133682657G>T	ENSP00000347755:p.Arg265Ile		132192730	NM_003440	D3DXJ3|Q05CP6|Q8IV75	Missense_Mutation	SNP	ENST00000355557.2	37	CCDS9282.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233128	0.39498	.	.	ENSG00000196387	ENST00000355557;ENST00000544426;ENST00000433577	T;T	0.24908	1.83;1.83	3.14	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.182140	0.26609	N	0.023426	T	0.38427	0.1040	M	0.68728	2.09	0.80722	D	1	D	0.69078	0.997	P	0.52823	0.71	T	0.40213	-0.9575	10	0.49607	T	0.09	.	14.1969	0.65677	0.0:0.0:1.0:0.0	.	265	P52738	ZN140_HUMAN	I	265;162;84	ENSP00000347755:R265I;ENSP00000445411:R162I	ENSP00000347755:R265I	R	+	2	0	ZNF140	132192730	0.617000	0.27043	1.000000	0.80357	0.488000	0.33401	2.085000	0.41634	2.063000	0.61619	0.455000	0.32223	AGA		0.433	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440	
NALCN	259232	broad.mit.edu	37	13	101735172	101735172	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:101735172G>T	ENST00000251127.6	-	33	3834	c.3753C>A	c.(3751-3753)atC>atA	p.I1251I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1251					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.I1251I(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCAGAACAAAGATGAAGGTGA	0.498																																					p.I1251I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3753A	13						.						124.0	116.0	119.0					13																	101735172		2203	4300	6503	100533173	SO:0001819	synonymous_variant	259232	exon33			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3753C>A	13.37:g.101735172G>T			100533173	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.498	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	broad.mit.edu	37	13	101795440	101795440	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:101795440G>A	ENST00000251127.6	-	17	2190	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	703					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.I703I(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468																																					p.I703I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C2109T	13						.						191.0	167.0	175.0					13																	101795440		2203	4300	6503	100593441	SO:0001819	synonymous_variant	259232	exon17			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2109C>T	13.37:g.101795440G>A			100593441	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	broad.mit.edu	37	13	101844285	101844285	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:101844285G>T	ENST00000251127.6	-	14	1828	c.1747C>A	c.(1747-1749)Cat>Aat	p.H583N	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.H583N	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	583					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.H583N(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAAAAAGATGATAGAGAATG	0.403																																					p.H583N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1747A	13						.						103.0	85.0	91.0					13																	101844285		2203	4300	6503	100642286	SO:0001583	missense	259232	exon14			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1747C>A	13.37:g.101844285G>T	ENSP00000251127:p.His583Asn		100642286	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494225	0.85069	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98264	-4.83;-4.3	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98409	0.9471	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.99905	1.1175	10	0.87932	D	0	.	19.3232	0.94250	0.0:0.0:1.0:0.0	.	583;583;583	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	N	583	ENSP00000251127:H583N;ENSP00000365367:H583N	ENSP00000251127:H583N	H	-	1	0	NALCN	100642286	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.301000	0.96167	2.633000	0.89246	0.650000	0.86243	CAT		0.403	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
TEX30	93081	broad.mit.edu	37	13	103419637	103419637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:103419637C>A	ENST00000376032.4	-	5	679	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376019.1_Nonsense_Mutation_p.E123*|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376021.4_Nonsense_Mutation_p.E123*|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376027.1_Intron	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	164								p.E123*(2)		lung(1)|urinary_tract(1)	2						TCACACATTTCATCTGCTGAG	0.413																																					p.E164X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G490T	13						.						89.0	86.0	87.0					13																	103419637		2203	4300	6503	102217638	SO:0001587	stop_gained	93081	exon5			AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.490G>T	13.37:g.103419637C>A	ENSP00000365200:p.Glu164*		102217638	NM_138779	Q5JUR8|Q96KZ8	Nonsense_Mutation	SNP	ENST00000376032.4	37	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	C	37	6.409364	0.97542	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	.	.	.	5.48	5.48	0.80851	.	0.360879	0.34338	N	0.004057	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-27.6592	19.7152	0.96115	0.0:1.0:0.0:0.0	.	.	.	.	X	123;123;164	.	ENSP00000365187:E123X	E	-	1	0	C13orf27	102217638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.032000	0.70918	2.733000	0.93635	0.591000	0.81541	GAA		0.413	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779	
BIVM	54841	broad.mit.edu	37	13	103459854	103459854	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:103459854G>A	ENST00000257336.1	+	3	916	c.237G>A	c.(235-237)gcG>gcA	p.A79A	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.D51N|BIVM_ENST00000419638.1_Silent_p.A79A|BIVM_ENST00000448849.2_Intron	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	79						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A79A(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)					TCAACCAGGCGACCTCAATCT	0.438																																					p.A79A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G237A	13						.						146.0	136.0	139.0					13																	103459854		2203	4300	6503	102257855	SO:0001819	synonymous_variant	2073	exon3			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.237G>A	13.37:g.103459854G>A			102257855	NM_017693	Q2M1J2|Q9NXM4	Silent	SNP	ENST00000257336.1	37	CCDS9505.1																																																																																				0.438	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2		
BIVM	54841	broad.mit.edu	37	13	103468820	103468820	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:103468820A>C	ENST00000257336.1	+	4	1200	c.521A>C	c.(520-522)aAa>aCa	p.K174T	BIVM-ERCC5_ENST00000602836.1_Nonstop_Mutation_p.*145Y|BIVM_ENST00000419638.1_Missense_Mutation_p.K174T|BIVM_ENST00000448849.2_5'UTR	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	174						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.K174T(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)					ACTTCAGATAAAAAGGGAAGA	0.343																																					p.K174T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521C	13						.						99.0	96.0	97.0					13																	103468820		2203	4298	6501	102266821	SO:0001583	missense	2073	exon4			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.521A>C	13.37:g.103468820A>C	ENSP00000257336:p.Lys174Thr		102266821	NM_017693	Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.680979	0.47886	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.88	4.71	0.59529	.	0.113642	0.64402	D	0.000013	T	0.47985	0.1475	L	0.27053	0.805	0.80722	D	1	D;P	0.63880	0.993;0.675	P;B	0.53266	0.722;0.381	T	0.41431	-0.9509	9	0.38643	T	0.18	.	8.9482	0.35771	0.8583:0.0:0.1417:0.0	.	145;174	Q59FZ7;Q86UB2	.;BIVM_HUMAN	T	174;174;145	.	ENSP00000257336:K174T	K	+	2	0	ERCC5;BIVM	102266821	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.851000	0.62896	1.060000	0.40578	0.528000	0.53228	AAA		0.343	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2		
LIG4	3981	broad.mit.edu	37	13	108861205	108861205	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:108861205G>T	ENST00000356922.4	-	2	2684	c.2412C>A	c.(2410-2412)tcC>tcA	p.S804S	LIG4_ENST00000442234.1_Silent_p.S804S|LIG4_ENST00000405925.1_Silent_p.S804S	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	804					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S804S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGCAATCCCAGGAATACCGAT	0.413								Non-homologous end-joining																													p.S804S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2412A	13						.						73.0	71.0	72.0					13																	108861205		2203	4300	6503	107659206	SO:0001819	synonymous_variant	3981	exon2			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2412C>A	13.37:g.108861205G>T			107659206	NM_002312	Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	CCDS9508.1																																																																																				0.413	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
COL4A1	1282	broad.mit.edu	37	13	110827046	110827046	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:110827046T>G	ENST00000375820.4	-	38	3370	c.3249A>C	c.(3247-3249)gaA>gaC	p.E1083D		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1083	Triple-helical region.				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.E1083D(1)|p.E726D(1)		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)			TGCTTCCTTTTTCTCCCTTCT	0.537																																					p.E1083D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3249C	13						.						126.0	137.0	133.0					13																	110827046		2203	4300	6503	109625047	SO:0001583	missense	1282	exon38			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.3249A>C	13.37:g.110827046T>G	ENSP00000364979:p.Glu1083Asp		109625047	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055893	0.36277	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.96491	-4.03	5.8	-0.386	0.12466	.	0.318283	0.33023	N	0.005376	D	0.88987	0.6587	N	0.11023	0.085	0.80722	D	1	P	0.37370	0.592	B	0.43386	0.418	T	0.80084	-0.1530	10	0.18710	T	0.47	.	4.4107	0.11432	0.2786:0.1658:0.0:0.5557	.	1083	P02462	CO4A1_HUMAN	D	726;1083;732	ENSP00000364979:E1083D	ENSP00000364973:E726D	E	-	3	2	COL4A1	109625047	0.739000	0.28196	0.991000	0.47740	0.834000	0.47266	-0.104000	0.10923	0.205000	0.20568	0.533000	0.62120	GAA		0.537	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
COL4A1	1282	broad.mit.edu	37	13	110839607	110839607	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:110839607C>T	ENST00000375820.4	-	25	1727	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	536	Triple-helical region.				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.D536N(1)		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)			AGCCGCAAGTCGAAATAAAAC	0.572																																					p.D536N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1606A	13						.						61.0	62.0	61.0					13																	110839607		2203	4300	6503	109637608	SO:0001583	missense	1282	exon25			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.1606G>A	13.37:g.110839607C>T	ENSP00000364979:p.Asp536Asn		109637608	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011013	0.54361	.	.	ENSG00000187498	ENST00000375820	D	0.93307	-3.2	4.66	4.66	0.58398	.	0.178571	0.48767	D	0.000171	D	0.87672	0.6236	N	0.25647	0.755	0.80722	D	1	P	0.48640	0.913	B	0.38954	0.286	D	0.86491	0.1797	10	0.17832	T	0.49	.	17.9388	0.89021	0.0:1.0:0.0:0.0	.	536	P02462	CO4A1_HUMAN	N	536	ENSP00000364979:D536N	ENSP00000364979:D536N	D	-	1	0	COL4A1	109637608	0.998000	0.40836	0.503000	0.27626	0.928000	0.56348	4.244000	0.58728	2.308000	0.77769	0.563000	0.77884	GAC		0.572	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
COL4A1	1282	broad.mit.edu	37	13	110845183	110845183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:110845183C>A	ENST00000375820.4	-	23	1580	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*	COL4A1_ENST00000543140.1_Nonsense_Mutation_p.E487*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	487	Triple-helical region.				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.E481*(1)|p.E487*(1)		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)			TTACCTATTTCTCCCGGGGGT	0.493																																					p.E487X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1459T	13						.						64.0	64.0	64.0					13																	110845183		2203	4300	6503	109643184	SO:0001587	stop_gained	1282	exon23			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.1459G>T	13.37:g.110845183C>A	ENSP00000364979:p.Glu487*		109643184	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	37	6.413181	0.97546	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	.	.	.	4.87	4.87	0.63330	.	0.374322	0.26658	N	0.023168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	13.4835	0.61351	0.0:0.8311:0.1689:0.0	.	.	.	.	X	481;487;487;487	.	ENSP00000364973:E481X	E	-	1	0	COL4A1	109643184	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	3.565000	0.53798	2.400000	0.81607	0.563000	0.77884	GAA		0.493	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
TUBA3C	7278	broad.mit.edu	37	13	19751395	19751395	+	Missense_Mutation	SNP	C	C	T	rs201024969		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:19751395C>T	ENST00000400113.3	-	4	832	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	243					'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.R243Q(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)		CCCGTCAAATCGCAGGGAGGC	0.597																																					p.R243Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	13						.	C	GLN/ARG	0,4406		0,0,2203	157.0	137.0	144.0		728	-1.0	0.7	13		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBA3C	NM_006001.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	243/451	19751395	1,13005	2203	4300	6503	18649395	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.728G>A	13.37:g.19751395C>T	ENSP00000382982:p.Arg243Gln		18649395	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	8.711	0.911976	0.17907	0.0	1.16E-4	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.74209	-0.82	1.19	-1.02	0.10135	.	0.000000	0.45606	U	0.000346	T	0.68284	0.2984	.	.	.	0.30264	N	0.792877	.	.	.	.	.	.	T	0.65236	-0.6217	7	0.72032	D	0.01	.	3.9351	0.09302	0.0:0.568:0.2469:0.1851	.	.	.	.	Q	243	ENSP00000382982:R243Q	ENSP00000354037:R243Q	R	-	2	0	TUBA3C	18649395	0.027000	0.19231	0.729000	0.30791	0.094000	0.18550	2.853000	0.48317	-0.368000	0.08040	0.175000	0.17021	CGA		0.597	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	20039660	20039660	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:20039660C>A	ENST00000400230.2	-	8	601	c.557G>T	c.(556-558)aGa>aTa	p.R186I	TPTE2_ENST00000382978.1_Missense_Mutation_p.R146I|TPTE2_ENST00000400103.2_Missense_Mutation_p.R75I|TPTE2_ENST00000382977.4_Missense_Mutation_p.R186I|TPTE2_ENST00000382975.4_Missense_Mutation_p.R146I|TPTE2_ENST00000255310.6_Missense_Mutation_p.R109I|TPTE2_ENST00000457266.2_Missense_Mutation_p.R75I|TPTE2_ENST00000390680.2_Missense_Mutation_p.R109I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	186					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.R109I(1)		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)		ATGAAAAATTCTTATCAGAAT	0.299																																					p.R75I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224T	13						.						42.0	41.0	42.0					13																	20039660		2202	4300	6502	18937660	SO:0001583	missense	93492	exon7			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.557G>T	13.37:g.20039660C>A	ENSP00000383089:p.Arg186Ile		18937660	NM_001141968	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	13.39	2.221794	0.39300	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.99637	-5.14;-3.6;-6.29;-5.14;-5.14;-6.29;-5.14;-3.6	2.79	2.79	0.32731	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99324	0.9763	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.987;0.999;1.0	D	0.98150	1.0441	9	.	.	.	-26.9199	9.2507	0.37554	0.0:1.0:0.0:0.0	.	75;109;186	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	I	146;75;186;109;109;186;146;75;186;55	ENSP00000372438:R146I;ENSP00000382974:R75I;ENSP00000383089:R186I;ENSP00000255310:R109I;ENSP00000375098:R109I;ENSP00000372437:R186I;ENSP00000372435:R146I;ENSP00000442218:R75I	.	R	-	2	0	TPTE2	18937660	1.000000	0.71417	0.210000	0.23637	0.216000	0.24613	3.108000	0.50337	1.846000	0.53633	0.467000	0.42956	AGA		0.299	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
ZMYM5	9205	broad.mit.edu	37	13	20399175	20399175	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:20399175C>A	ENST00000337963.4	-	8	1716	c.1452G>T	c.(1450-1452)gaG>gaT	p.E484D		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	484						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E484D(1)		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)		aattcacattctcttggatca	0.388																																					p.E484D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1452T	13						.						96.0	84.0	88.0					13																	20399175		1568	3582	5150	19297175	SO:0001583	missense	9205	exon8			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.1452G>T	13.37:g.20399175C>A	ENSP00000337034:p.Glu484Asp		19297175	NM_001142684	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	C	2.289	-0.362882	0.05103	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.19250	2.16;2.16	2.62	1.76	0.24704	.	0.585766	0.16966	N	0.192293	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.15052	0.012	T	0.30880	-0.9963	10	0.25106	T	0.35	.	5.1403	0.14955	0.0:0.832:0.0:0.168	.	484	Q9UJ78	ZMYM5_HUMAN	D	484;474	ENSP00000337034:E484D;ENSP00000445779:E474D	ENSP00000337034:E484D	E	-	3	2	ZMYM5	19297175	0.000000	0.05858	0.005000	0.12908	0.144000	0.21451	0.094000	0.15107	0.637000	0.30526	0.305000	0.20034	GAG		0.388	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
CRYL1	51084	broad.mit.edu	37	13	20978851	20978851	+	Missense_Mutation	SNP	C	C	T	rs184596127	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:20978851C>T	ENST00000298248.7	-	7	831	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	CRYL1_ENST00000382812.1_Missense_Mutation_p.E235K	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	257					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.E257K(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)		TTTATGCCTTCGCTGTATCTG	0.398													C|||	4	0.000798722	0.0008	0.0	5008	,	,		23720	0.003		0.0	False		,,,				2504	0.0				p.E257K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G769A	13						.	C	LYS/GLU	1,3733		0,1,1866	178.0	180.0	179.0		769	5.6	0.7	13		179	0,8220		0,0,4110	yes	missense	CRYL1	NM_015974.2	56	0,1,5976	TT,TC,CC		0.0,0.0268,0.0084	benign	257/320	20978851	1,11953	1867	4110	5977	19876851	SO:0001583	missense	51084	exon7			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.769G>A	13.37:g.20978851C>T	ENSP00000298248:p.Glu257Lys		19876851	NM_015974	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	CCDS41871.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.54	1.378887	0.24944	2.68E-4	0.0	ENSG00000165475	ENST00000298248;ENST00000382812	D;D	0.90133	-2.62;-2.62	5.56	5.56	0.83823	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.088212	0.85682	D	0.000000	D	0.86867	0.6036	L	0.49571	1.57	0.80722	D	1	B	0.26547	0.152	B	0.19946	0.027	T	0.83060	-0.0148	10	0.08179	T	0.78	-30.7254	18.2885	0.90121	0.0:1.0:0.0:0.0	.	257	Q9Y2S2	CRYL1_HUMAN	K	257;235	ENSP00000298248:E257K;ENSP00000372262:E235K	ENSP00000298248:E257K	E	-	1	0	CRYL1	19876851	0.997000	0.39634	0.738000	0.30950	0.010000	0.07245	3.899000	0.56288	2.608000	0.88229	0.563000	0.77884	GAA		0.398	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974	
XPO4	64328	broad.mit.edu	37	13	21429888	21429888	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:21429888G>A	ENST00000255305.6	-	4	405	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Missense_Mutation_p.R112W			Q9C0E2	XPO4_HUMAN	exportin 4	112					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R85W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATCTGTTCCCGAACATACTTT	0.328																																					p.R112W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C334T	13						.						116.0	108.0	110.0					13																	21429888		1801	4071	5872	20327888	SO:0001583	missense	64328	exon4			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.334C>T	13.37:g.21429888G>A	ENSP00000255305:p.Arg112Trp		20327888	NM_022459	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253403	0.95336	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.74526	-0.85;-0.85	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84916	0.0851	10	0.62326	D	0.03	-12.1368	20.8794	0.99867	0.0:0.0:1.0:0.0	.	112	Q9C0E2	XPO4_HUMAN	W	112	ENSP00000383444:R112W;ENSP00000255305:R112W	ENSP00000255305:R112W	R	-	1	2	XPO4	20327888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.828000	0.69307	2.941000	0.99782	0.655000	0.94253	CGG		0.328	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	
SACS	26278	broad.mit.edu	37	13	23904719	23904719	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:23904719G>T	ENST00000382292.3	-	9	13569	c.13296C>A	c.(13294-13296)ttC>ttA	p.F4432L	SACS_ENST00000382298.3_Missense_Mutation_p.F4432L|SACS_ENST00000402364.1_Missense_Mutation_p.F3682L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4432					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.F4285L(2)|p.F4432L(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)		GAGGAACAAAGAACCTTTGAG	0.478																																					p.F4432L												.	.	3	Substitution - Missense(3)	urinary_tract(2)|large_intestine(1)	c.C13296A	13						.						79.0	84.0	82.0					13																	23904719		2203	4300	6503	22802719	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.13296C>A	13.37:g.23904719G>T	ENSP00000371729:p.Phe4432Leu		22802719	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162546	0.57368	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.21;-2.36;-2.21	5.85	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	L	0.44542	1.39	0.43130	D	0.994867	D	0.60575	0.988	P	0.54544	0.755	D	0.86906	0.2057	10	0.39692	T	0.17	.	9.7894	0.40697	0.2494:0.0:0.7506:0.0	.	4432	Q9NZJ4	SACS_HUMAN	L	4432;3682;4432	ENSP00000371729:F4432L;ENSP00000385844:F3682L;ENSP00000371735:F4432L	ENSP00000371729:F4432L	F	-	3	2	SACS	22802719	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	3.428000	0.52792	1.484000	0.48361	0.563000	0.77884	TTC		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23909780	23909780	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:23909780T>G	ENST00000382292.3	-	9	8508	c.8235A>C	c.(8233-8235)gaA>gaC	p.E2745D	SACS_ENST00000382298.3_Missense_Mutation_p.E2745D|SACS_ENST00000402364.1_Missense_Mutation_p.E1995D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2745					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.E2598D(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)		TAGAAATTTTTTCCATGTGAT	0.378																																					p.E2745D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8235C	13						.						56.0	56.0	56.0					13																	23909780		2203	4298	6501	22807780	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.8235A>C	13.37:g.23909780T>G	ENSP00000371729:p.Glu2745Asp		22807780	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856741	0.71834	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.95103	-3.61;-3.61;-3.61	5.26	-4.62	0.03370	.	0.000000	0.85682	D	0.000000	D	0.93232	0.7844	L	0.46157	1.445	0.33454	D	0.584064	D	0.63880	0.993	P	0.57548	0.823	D	0.92148	0.5726	10	0.51188	T	0.08	.	12.5036	0.55970	0.0:0.4392:0.0:0.5608	.	2745	Q9NZJ4	SACS_HUMAN	D	2745;1995;2745	ENSP00000371729:E2745D;ENSP00000385844:E1995D;ENSP00000371735:E2745D	ENSP00000371729:E2745D	E	-	3	2	SACS	22807780	1.000000	0.71417	0.966000	0.40874	0.993000	0.82548	0.982000	0.29539	-0.774000	0.04590	0.379000	0.24179	GAA		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
PARP4	143	broad.mit.edu	37	13	25044090	25044090	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:25044090T>C	ENST00000381989.3	-	16	2093	c.1988A>G	c.(1987-1989)gAc>gGc	p.D663G		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	663	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D663G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGCGGCCTTGTCATCCAAAGG	0.428																																					p.D663G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1988G	13						.						98.0	72.0	81.0					13																	25044090		2203	4300	6503	23942090	SO:0001583	missense	143	exon16			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1988A>G	13.37:g.25044090T>C	ENSP00000371419:p.Asp663Gly		23942090	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.268188	0.40095	.	.	ENSG00000102699	ENST00000381989	T	0.22743	1.94	3.6	3.6	0.41247	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.238816	0.40728	U	0.001035	T	0.28067	0.0692	M	0.70275	2.135	0.42717	D	0.993664	P	0.51240	0.943	P	0.49421	0.61	T	0.04946	-1.0916	10	0.52906	T	0.07	-20.0093	5.6536	0.17631	0.0:0.1247:0.0:0.8753	.	663	Q9UKK3	PARP4_HUMAN	G	663	ENSP00000371419:D663G	ENSP00000371419:D663G	D	-	2	0	PARP4	23942090	1.000000	0.71417	0.959000	0.39883	0.230000	0.25150	4.149000	0.58091	1.645000	0.50612	0.369000	0.22263	GAC		0.428	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
PARP4	143	broad.mit.edu	37	13	25058855	25058855	+	Missense_Mutation	SNP	G	G	A	rs142799760	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:25058855G>A	ENST00000381989.3	-	12	1489	c.1384C>T	c.(1384-1386)Cgt>Tgt	p.R462C		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	462	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R462C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGCACACCACGATCTTCCACT	0.438													.|||	83	0.0165735	0.0582	0.0086	5008	,	,		19941	0.0		0.0	False		,,,				2504	0.0				p.R462C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1384T	13						.	G	CYS/ARG	191,4215	121.3+/-158.8	3,185,2015	156.0	155.0	155.0		1384	3.5	0.5	13	dbSNP_134	155	0,8594		0,0,4297	no	missense	PARP4	NM_006437.3	180	3,185,6312	AA,AG,GG		0.0,4.335,1.4692	probably-damaging	462/1725	25058855	191,12809	2203	4297	6500	23956855	SO:0001583	missense	143	exon12			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1384C>T	13.37:g.25058855G>A	ENSP00000371419:p.Arg462Cys		23956855	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	27	0.012362637362637362	23	0.046747967479674794	4	0.011049723756906077	0	0.0	0	0.0	G	15.77	2.930909	0.52866	0.04335	0.0	ENSG00000102699	ENST00000381989	T	0.14893	2.47	4.35	3.48	0.39840	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.381500	0.23552	N	0.046944	T	0.02970	0.0088	L	0.46741	1.465	0.34311	D	0.685479	D	0.65815	0.995	P	0.51266	0.664	T	0.06285	-1.0835	10	0.44086	T	0.13	-5.6847	6.2233	0.20693	0.104:0.1894:0.7067:0.0	.	462	Q9UKK3	PARP4_HUMAN	C	462	ENSP00000371419:R462C	ENSP00000371419:R462C	R	-	1	0	PARP4	23956855	1.000000	0.71417	0.460000	0.27093	0.682000	0.39822	4.326000	0.59241	2.229000	0.72834	0.650000	0.86243	CGT		0.438	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
CENPJ	55835	broad.mit.edu	37	13	25458559	25458559	+	Missense_Mutation	SNP	G	G	A	rs148716987	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:25458559G>A	ENST00000381884.4	-	14	3705	c.3520C>T	c.(3520-3522)Ccc>Tcc	p.P1174S	CENPJ_ENST00000493190.1_5'Flank|CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1174					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.P1174S(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)		GTTCCATTGGGAAACAGTATA	0.423																																					p.P1174S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3520T	13						.						136.0	127.0	130.0					13																	25458559		2203	4300	6503	24356559	SO:0001583	missense	55835	exon14			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.3520C>T	13.37:g.25458559G>A	ENSP00000371308:p.Pro1174Ser		24356559	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183444	0.78677	.	.	ENSG00000151849	ENST00000381884	T	0.77098	-1.07	6.07	6.07	0.98685	.	0.145479	0.64402	D	0.000007	T	0.77170	0.4091	L	0.40543	1.245	0.80722	D	1	P	0.36577	0.558	B	0.42112	0.376	T	0.75958	-0.3134	10	0.51188	T	0.08	.	19.4154	0.94694	0.0:0.0:1.0:0.0	.	1174	Q9HC77	CENPJ_HUMAN	S	1174	ENSP00000371308:P1174S	ENSP00000371308:P1174S	P	-	1	0	CENPJ	24356559	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.062000	0.76706	2.884000	0.98904	0.655000	0.94253	CCC		0.423	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
CENPJ	55835	broad.mit.edu	37	13	25481043	25481043	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:25481043C>T	ENST00000381884.4	-	7	1318	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	CENPJ_ENST00000545981.1_Missense_Mutation_p.R378Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	378					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.R378Q(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)		ACCTTCTCCTCGTTTTAAAAA	0.348																																					p.R378Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1133A	13						.						52.0	50.0	50.0					13																	25481043		2203	4300	6503	24379043	SO:0001583	missense	55835	exon7			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.1133G>A	13.37:g.25481043C>T	ENSP00000371308:p.Arg378Gln		24379043	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253553	0.80135	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.19250	2.16;2.16	5.42	4.58	0.56647	.	0.000000	0.64402	D	0.000008	T	0.42675	0.1213	M	0.78637	2.42	0.42774	D	0.993847	D	0.76494	0.999	P	0.60886	0.88	T	0.40270	-0.9572	10	0.44086	T	0.13	.	13.0942	0.59182	0.0:0.9213:0.0:0.0787	.	378	Q9HC77	CENPJ_HUMAN	Q	378	ENSP00000371308:R378Q;ENSP00000441090:R378Q	ENSP00000371308:R378Q	R	-	2	0	CENPJ	24379043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.922000	0.75811	1.294000	0.44707	0.655000	0.94253	CGA		0.348	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
AMER2	219287	broad.mit.edu	37	13	25743937	25743937	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:25743937C>A	ENST00000515384.1	-	1	2488	c.1821G>T	c.(1819-1821)aaG>aaT	p.K607N	AMER2_ENST00000357816.2_Missense_Mutation_p.K488N|AMER2_ENST00000381853.3_Missense_Mutation_p.K488N			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	607					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.K488N(1)|p.K607N(1)									TAATAGGGATCTTAGAGTCCT	0.557																																					p.K607N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1821T	13						.						195.0	167.0	177.0					13																	25743937		2203	4300	6503	24641937	SO:0001583	missense	219287	exon1			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1821G>T	13.37:g.25743937C>A	ENSP00000426528:p.Lys607Asn		24641937	NM_152704	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401513	0.62288	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.51574	0.79;0.79;0.7	5.97	-5.21	0.02815	.	0.051896	0.85682	D	0.000000	T	0.51126	0.1656	L	0.27053	0.805	0.48511	D	0.999669	D;D	0.76494	0.999;0.998	D;D	0.68353	0.957;0.955	T	0.54951	-0.8216	10	0.72032	D	0.01	-0.3188	19.1168	0.93344	0.0:0.8033:0.0:0.1967	.	607;488	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	N	488;488;607	ENSP00000350469:K488N;ENSP00000371277:K488N;ENSP00000426528:K607N	ENSP00000350469:K488N	K	-	3	2	FAM123A	24641937	0.997000	0.39634	0.077000	0.20336	0.920000	0.55202	0.471000	0.22100	-1.220000	0.02594	-0.345000	0.07892	AAG		0.557	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704	
MTMR6	9107	broad.mit.edu	37	13	25835929	25835929	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:25835929A>G	ENST00000381801.5	-	6	1364	c.603T>C	c.(601-603)tgT>tgC	p.C201C	MTMR6_ENST00000482345.1_5'UTR|MTMR6_ENST00000540661.1_Silent_p.C201C	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	201	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.C201C(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GACTACATCGACAAATGGCAG	0.383																																					p.C201C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T603C	13						.						74.0	67.0	70.0					13																	25835929		2203	4300	6503	24733929	SO:0001819	synonymous_variant	9107	exon6			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.603T>C	13.37:g.25835929A>G			24733929	NM_004685	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Silent	SNP	ENST00000381801.5	37	CCDS9313.1																																																																																				0.383	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685	
NUPL1	9818	broad.mit.edu	37	13	25887024	25887024	+	Missense_Mutation	SNP	C	C	T	rs368369763		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:25887024C>T	ENST00000381736.3	+	4	540	c.290C>T	c.(289-291)aCg>aTg	p.T97M	NUPL1_ENST00000381718.3_Missense_Mutation_p.T85M|NUPL1_ENST00000463407.1_Missense_Mutation_p.T97M|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	97	14 X 2 AA repeats of F-G.				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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.T97M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		taAATAGGAACGCCAGCCACT	0.358																																					p.T97M	Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C290T	13						.	C	MET/THR,MET/THR	0,4406		0,0,2203	81.0	69.0	73.0		254,290	3.9	0.0	13		73	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	NUPL1	NM_001008564.1,NM_014089.3	81,81	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	85/588,97/600	25887024	2,13002	2203	4299	6502	24785024	SO:0001583	missense	9818	exon4			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.290C>T	13.37:g.25887024C>T	ENSP00000371155:p.Thr97Met		24785024	NM_014089	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916475	0.33815	0.0	2.33E-4	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.52295	1.31;1.3;1.31;1.27;0.67	5.63	3.91	0.45181	.	0.316464	0.39834	N	0.001252	T	0.47414	0.1444	M	0.72894	2.215	0.43271	D	0.995225	B;B;B	0.15473	0.013;0.013;0.013	B;B;B	0.14023	0.006;0.006;0.01	T	0.43766	-0.9371	10	0.52906	T	0.07	-0.1734	12.0739	0.53632	0.0:0.8611:0.0:0.1389	.	85;97;97	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	M	97;85;74;97;85;97;44	ENSP00000371155:T97M;ENSP00000418555:T97M;ENSP00000371137:T85M;ENSP00000371166:T97M;ENSP00000408147:T44M	ENSP00000318459:T74M	T	+	2	0	NUPL1	24785024	0.991000	0.36638	0.033000	0.17914	0.026000	0.11368	4.053000	0.57427	0.737000	0.32582	-0.136000	0.14681	ACG		0.358	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2		
ATP8A2	51761	broad.mit.edu	37	13	26043168	26043168	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:26043168G>A	ENST00000381655.2	+	2	272	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A4T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	4					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.A44T(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)		GATGTCCCGGGCCACGTCTGT	0.542																																					p.A44T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G130A	13						.						77.0	86.0	83.0					13																	26043168		2039	4190	6229	24941168	SO:0001583	missense	51761	exon2			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.130G>A	13.37:g.26043168G>A	ENSP00000371070:p.Ala44Thr		24941168	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468078	0.43839	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000381648	T;T	0.63744	0.42;-0.06	4.16	2.22	0.28083	.	0.279391	0.34725	N	0.003736	T	0.44159	0.1280	L	0.29908	0.895	0.28747	N	0.901661	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.17979	0.002;0.02;0.005	T	0.26608	-1.0098	10	0.14656	T	0.56	.	9.3551	0.38161	0.2151:0.0:0.7849:0.0	.	4;4;4	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	T	44;4;4	ENSP00000371070:A44T;ENSP00000255283:A4T	ENSP00000255283:A4T	A	+	1	0	ATP8A2	24941168	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.270000	0.43355	0.972000	0.38314	0.400000	0.26472	GCC		0.542	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
GSX1	219409	broad.mit.edu	37	13	28367983	28367983	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:28367983C>T	ENST00000302945.2	+	2	741	c.693C>T	c.(691-693)tgC>tgT	p.C231C		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	231					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	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)	p.C231C(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCTGCAAGTGCGCATCGCTCT	0.657																																					p.C231C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	13						.						33.0	32.0	32.0					13																	28367983		2203	4300	6503	27265983	SO:0001819	synonymous_variant	219409	exon2			AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.693C>T	13.37:g.28367983C>T			27265983	NM_145657	Q9UD62	Silent	SNP	ENST00000302945.2	37	CCDS9326.1																																																																																				0.657	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657	
FLT3	2322	broad.mit.edu	37	13	28597607	28597607	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:28597607A>C	ENST00000241453.7	-	19	2379	c.2298T>G	c.(2296-2298)atT>atG	p.I766M	FLT3_ENST00000380982.4_Missense_Mutation_p.I766M|FLT3_ENST00000537084.1_Missense_Mutation_p.I766M	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	766	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I766M(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTCATATTCAATTTCATCTG	0.368			"""Mis, O"""		"""AML, ALL"""																																p.I766M			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2298G	13						.						113.0	106.0	108.0					13																	28597607		2203	4299	6502	27495607	SO:0001583	missense	2322	exon19			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2298T>G	13.37:g.28597607A>C	ENSP00000241453:p.Ile766Met		27495607	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702062	0.30232	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78924	-1.15;-1.22;-0.94	5.28	-1.77	0.07982	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.711267	0.13805	N	0.361504	T	0.60064	0.2240	L	0.39898	1.24	0.29519	N	0.853613	B;B	0.16802	0.019;0.008	B;B	0.18263	0.013;0.021	T	0.44065	-0.9352	10	0.27082	T	0.32	.	1.5181	0.02510	0.3709:0.2441:0.2672:0.1178	.	766;766	P36888-2;P36888	.;FLT3_HUMAN	M	766	ENSP00000241453:I766M;ENSP00000370369:I766M;ENSP00000438139:I766M	ENSP00000241453:I766M	I	-	3	3	FLT3	27495607	0.993000	0.37304	0.948000	0.38648	0.944000	0.59088	0.374000	0.20501	-0.435000	0.07264	-0.250000	0.11733	ATT		0.368	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
PAN3	255967	broad.mit.edu	37	13	28841237	28841237	+	Missense_Mutation	SNP	C	C	T	rs571420870		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:28841237C>T	ENST00000380958.3	+	11	1731	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	PAN3_ENST00000399613.1_Missense_Mutation_p.R327C|PAN3_ENST00000282391.5_Missense_Mutation_p.R215C	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.R327C(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCCAGGTTTTCGTCTTGTTAA	0.348																																					p.R527C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1579T	13						.						84.0	85.0	84.0					13																	28841237		2203	4300	6503	27739237	SO:0001583	missense	255967	exon11			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1579C>T	13.37:g.28841237C>T	ENSP00000370345:p.Arg527Cys		27739237	NM_175854		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285489	0.80803	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.20332	2.08;2.08;2.08	5.56	5.56	0.83823	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54046	0.1834	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.992;0.988;0.987	T	0.59144	-0.7509	10	0.66056	D	0.02	-8.9005	19.5331	0.95237	0.0:1.0:0.0:0.0	.	527;527;215;473	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	C	527;327;215	ENSP00000370345:R527C;ENSP00000382522:R327C;ENSP00000282391:R215C	ENSP00000282391:R215C	R	+	1	0	PAN3	27739237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.634000	0.61325	2.626000	0.88956	0.650000	0.86243	CGT		0.348	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
USPL1	10208	broad.mit.edu	37	13	31205223	31205223	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:31205223G>A	ENST00000255304.4	+	4	822	c.480G>A	c.(478-480)caG>caA	p.Q160Q	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	160					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.Q160Q(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)		GTGGTCAACAGAATCCAATTA	0.393																																					p.Q160Q	Ovarian(60;318 1180 1554 28110 31601)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G480A	13						.						77.0	77.0	77.0					13																	31205223		2203	4300	6503	30103223	SO:0001819	synonymous_variant	10208	exon4			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.480G>A	13.37:g.31205223G>A			30103223	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	CCDS9336.1																																																																																				0.393	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
RXFP2	122042	broad.mit.edu	37	13	32366097	32366097	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:32366097C>A	ENST00000298386.2	+	15	1371	c.1300C>A	c.(1300-1302)Ctt>Att	p.L434I	RXFP2_ENST00000380314.1_Missense_Mutation_p.L410I	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	434					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.L434I(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTGGAAATCTTTTTGTCAT	0.378																																					p.L410I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1228A	13						.						127.0	115.0	119.0					13																	32366097		2203	4300	6503	31264097	SO:0001583	missense	122042	exon14			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1300C>A	13.37:g.32366097C>A	ENSP00000298386:p.Leu434Ile		31264097	NM_001166058	B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	6.097	0.386234	0.11524	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.39056	1.1;1.1	5.62	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.117767	0.64402	D	0.000015	T	0.20659	0.0497	N	0.13168	0.305	0.41458	D	0.988028	B;B	0.14012	0.009;0.009	B;B	0.24269	0.034;0.052	T	0.11324	-1.0592	10	0.02654	T	1	.	6.7013	0.23227	0.1764:0.7323:0.0:0.0913	.	410;434	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	I	410;434	ENSP00000369670:L410I;ENSP00000298386:L434I	ENSP00000298386:L434I	L	+	1	0	RXFP2	31264097	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.912000	0.28597	1.359000	0.45940	0.655000	0.94253	CTT		0.378	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
FRY	10129	broad.mit.edu	37	13	32828498	32828498	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:32828498C>T	ENST00000380250.3	+	51	7879	c.7383C>T	c.(7381-7383)ttC>ttT	p.F2461F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2461						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F2461F(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)		TCAGAGACTTCGACTTCCTAG	0.468																																					p.F2461F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7383T	13						.						158.0	163.0	161.0					13																	32828498		1964	4149	6113	31726498	SO:0001819	synonymous_variant	10129	exon51			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.7383C>T	13.37:g.32828498C>T			31726498	NM_023037	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.468	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
PDS5B	23047	broad.mit.edu	37	13	33250060	33250060	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:33250060C>A	ENST00000315596.10	+	9	1112	c.926C>A	c.(925-927)tCt>tAt	p.S309Y		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	309					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.S309Y(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)		GAATTGGCTTCTCAAAACAAG	0.358																																					p.S309Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926A	13						.						84.0	88.0	87.0					13																	33250060		1823	4082	5905	32148060	SO:0001583	missense	23047	exon9			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.926C>A	13.37:g.33250060C>A	ENSP00000313851:p.Ser309Tyr		32148060	NM_015032	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940081	0.92526	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.69040	-0.37	5.54	5.54	0.83059	Armadillo-type fold (1);	0.048758	0.85682	D	0.000000	T	0.70996	0.3288	L	0.36672	1.1	0.80722	D	1	P;P	0.50528	0.876;0.936	P;P	0.53102	0.632;0.718	T	0.72821	-0.4177	10	0.66056	D	0.02	-21.0248	19.8499	0.96734	0.0:1.0:0.0:0.0	.	309;309	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	Y	309	ENSP00000313851:S309Y	ENSP00000313851:S309Y	S	+	2	0	PDS5B	32148060	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.904000	0.69886	2.779000	0.95612	0.591000	0.81541	TCT		0.358	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
NBEA	26960	broad.mit.edu	37	13	35730312	35730312	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:35730312A>C	ENST00000400445.3	+	20	3154	c.2620A>C	c.(2620-2622)Aaa>Caa	p.K874Q	NBEA_ENST00000379939.2_Missense_Mutation_p.K874Q|NBEA_ENST00000310336.4_Missense_Mutation_p.K874Q|NBEA_ENST00000540320.1_Missense_Mutation_p.K874Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	874					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.K874Q(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)		TGATATGATAAAACTTTTCAG	0.318																																					p.K874Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2620C	13						.						28.0	26.0	27.0					13																	35730312		1810	4074	5884	34628312	SO:0001583	missense	26960	exon20			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.2620A>C	13.37:g.35730312A>C	ENSP00000383295:p.Lys874Gln		34628312	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357862	0.82243	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.28138	-1.0053	10	0.22706	T	0.39	.	16.2948	0.82765	1.0:0.0:0.0:0.0	.	874	Q5T321	.	Q	874	ENSP00000440951:K874Q;ENSP00000383295:K874Q;ENSP00000369271:K874Q;ENSP00000308534:K874Q	ENSP00000308534:K874Q	K	+	1	0	NBEA	34628312	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.336000	0.96533	2.253000	0.74438	0.456000	0.33151	AAA		0.318	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	36129211	36129211	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:36129211A>G	ENST00000400445.3	+	44	7428	c.6894A>G	c.(6892-6894)gaA>gaG	p.E2298E	NBEA_ENST00000379939.2_Silent_p.E2295E|NBEA_ENST00000310336.4_Silent_p.E2298E|NBEA_ENST00000540320.1_Silent_p.E2298E|NBEA_ENST00000537702.1_Silent_p.E91E	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2298	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.E2298E(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)		CAAACTTCGAATATTTGATGT	0.343																																					p.E2298E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6894G	13						.						85.0	81.0	82.0					13																	36129211		1841	4085	5926	35027211	SO:0001819	synonymous_variant	26960	exon44			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.6894A>G	13.37:g.36129211A>G			35027211	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
ALG5	29880	broad.mit.edu	37	13	37569724	37569724	+	Missense_Mutation	SNP	C	C	T	rs544999445	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:37569724C>T	ENST00000239891.3	-	2	142	c.76G>A	c.(76-78)Gtt>Att	p.V26I	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Missense_Mutation_p.V26I|ALG5_ENST00000443765.1_Missense_Mutation_p.V26I	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	26					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)	p.V26I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTAAATGCAACGATGGAAATC	0.338													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20549	0.0		0.0	False		,,,				2504	0.0				p.V26I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76A	13						.						99.0	98.0	98.0					13																	37569724		2203	4300	6503	36467724	SO:0001583	missense	29880	exon2			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.76G>A	13.37:g.37569724C>T	ENSP00000239891:p.Val26Ile		36467724	NM_001142364	B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	C	8.446	0.851909	0.17034	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.82526	-1.62;-1.05	6.17	1.56	0.23342	.	0.347849	0.32736	N	0.005706	T	0.73931	0.3650	L	0.45051	1.395	0.42567	D	0.993162	B;B	0.18166	0.026;0.006	B;B	0.15870	0.014;0.006	T	0.63251	-0.6679	10	0.25106	T	0.35	.	11.1268	0.48324	0.0:0.6298:0.0:0.3702	.	26;26	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	I	26	ENSP00000239891:V26I;ENSP00000389647:V26I	ENSP00000239891:V26I	V	-	1	0	ALG5	36467724	0.697000	0.27767	0.989000	0.46669	0.259000	0.26198	0.192000	0.17096	0.194000	0.20326	-0.126000	0.14955	GTT		0.338	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338	
POSTN	10631	broad.mit.edu	37	13	38154783	38154783	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:38154783T>G	ENST00000379747.4	-	11	1561	c.1444A>C	c.(1444-1446)Aac>Cac	p.N482H	POSTN_ENST00000379742.4_Missense_Mutation_p.N482H|POSTN_ENST00000541481.1_Missense_Mutation_p.N482H|POSTN_ENST00000541179.1_Missense_Mutation_p.N482H|POSTN_ENST00000379743.4_Missense_Mutation_p.N482H|POSTN_ENST00000379749.4_Missense_Mutation_p.N482H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	482	FAS1 3. {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.N482H(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)		ATCGCACCGTTTCTCCCTTGC	0.423																																					p.N482H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1444C	13						.						279.0	257.0	264.0					13																	38154783		2203	4300	6503	37052783	SO:0001583	missense	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.1444A>C	13.37:g.38154783T>G	ENSP00000369071:p.Asn482His		37052783	NM_001135934	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119171	0.56505	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.03	5.03	0.67393	FAS1 domain (6);	0.089271	0.85682	D	0.000000	D	0.89955	0.6865	M	0.84082	2.675	0.50632	D	0.99988	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.997;0.974;0.997	D	0.91295	0.5062	10	0.62326	D	0.03	-24.0561	15.0479	0.71841	0.0:0.0:0.0:1.0	.	482;482;482;482;482;482;482	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	H	482	ENSP00000437959:N482H;ENSP00000369073:N482H;ENSP00000369071:N482H;ENSP00000369067:N482H;ENSP00000369066:N482H;ENSP00000437953:N482H	ENSP00000369066:N482H	N	-	1	0	POSTN	37052783	1.000000	0.71417	0.962000	0.40283	0.171000	0.22731	7.408000	0.80041	2.004000	0.58718	0.460000	0.39030	AAC		0.423	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
TRPC4	7223	broad.mit.edu	37	13	38320332	38320332	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:38320332G>A	ENST00000379705.3	-	3	1496	c.639C>T	c.(637-639)agC>agT	p.S213S	TRPC4_ENST00000379681.3_Silent_p.S213S|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Silent_p.S213S|TRPC4_ENST00000379673.2_Silent_p.S213S|TRPC4_ENST00000355779.2_Silent_p.S213S|TRPC4_ENST00000358477.2_Silent_p.S213S|TRPC4_ENST00000426868.2_Silent_p.S213S|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	213					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.S213S(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)		AAGGATCTTCGCTTGACAGTG	0.498																																					p.S213S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	13						.						108.0	93.0	98.0					13																	38320332		2203	4300	6503	37218332	SO:0001819	synonymous_variant	7223	exon3			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.639C>T	13.37:g.38320332G>A			37218332	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.498	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
TRPC4	7223	broad.mit.edu	37	13	38357251	38357251	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:38357251G>A	ENST00000379705.3	-	2	1077	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F	TRPC4_ENST00000379681.3_Missense_Mutation_p.L74F|TRPC4_ENST00000379679.1_Missense_Mutation_p.L74F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L74F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L74F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L74F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L74F|TRPC4_ENST00000426868.2_Missense_Mutation_p.L74F|TRPC4_ENST00000338947.5_Missense_Mutation_p.L74F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	74					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.L74I(2)|p.L74F(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)		gcaatgaggagagcagttctt	0.363																																					p.L74F												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.C220T	13						.						87.0	89.0	88.0					13																	38357251		2203	4300	6503	37255251	SO:0001583	missense	7223	exon2			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.220C>T	13.37:g.38357251G>A	ENSP00000369027:p.Leu74Phe		37255251	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521623	0.85600	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.996;0.996;1.0;1.0	D	0.88592	0.3144	10	0.45353	T	0.12	-21.3207	13.6832	0.62499	0.0701:0.0:0.9299:0.0	.	74;74;74;74;74;74	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	F	74	ENSP00000369027:L74F;ENSP00000369003:L74F;ENSP00000342580:L74F;ENSP00000369001:L74F;ENSP00000410133:L74F;ENSP00000348025:L74F;ENSP00000351264:L74F;ENSP00000368995:L74F;ENSP00000414316:L74F	ENSP00000342580:L74F	L	-	1	0	TRPC4	37255251	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	6.799000	0.75160	2.861000	0.98227	0.650000	0.86243	CTC		0.363	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
FREM2	341640	broad.mit.edu	37	13	39265013	39265013	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:39265013T>C	ENST00000280481.7	+	1	3748	c.3532T>C	c.(3532-3534)Ttc>Ctc	p.F1178L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1178					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.F1178L(1)		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)		AGAGAGACAGTTCTTCCCCAT	0.423																																					p.F1178L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3532C	13						.						167.0	163.0	165.0					13																	39265013		2203	4300	6503	38163013	SO:0001583	missense	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.3532T>C	13.37:g.39265013T>C	ENSP00000280481:p.Phe1178Leu		38163013	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	4.410	0.075802	0.08485	.	.	ENSG00000150893	ENST00000280481	T	0.28069	1.63	6.07	0.863	0.19062	.	0.259988	0.44688	N	0.000422	T	0.16342	0.0393	L	0.41573	1.285	0.47698	D	0.999495	B	0.02656	0.0	B	0.10450	0.005	T	0.11817	-1.0572	10	0.10377	T	0.69	.	1.7322	0.02934	0.2284:0.1258:0.1131:0.5326	.	1178	Q5SZK8	FREM2_HUMAN	L	1178	ENSP00000280481:F1178L	ENSP00000280481:F1178L	F	+	1	0	FREM2	38163013	0.926000	0.31397	0.586000	0.28679	0.750000	0.42670	1.482000	0.35486	0.147000	0.19030	-1.172000	0.01736	TTC		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
ELF1	1997	broad.mit.edu	37	13	41533125	41533125	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:41533125C>T	ENST00000239882.3	-	3	414	c.100G>A	c.(100-102)Gta>Ata	p.V34I	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.V34I	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	34					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|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.V34I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TCCACAATTACGGCAGGAAAA	0.418																																					p.V34I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100A	13						.						102.0	90.0	94.0					13																	41533125		2203	4300	6503	40431125	SO:0001583	missense	1997	exon3			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.100G>A	13.37:g.41533125C>T	ENSP00000239882:p.Val34Ile		40431125	NM_172373	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809415	0.70797	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.65732	-0.17;-0.17	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	T	0.63022	0.2476	M	0.76170	2.325	0.44316	D	0.99719	P;P	0.37441	0.536;0.595	B;B	0.29077	0.072;0.098	T	0.68150	-0.5485	10	0.62326	D	0.03	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	34;34	E9PDQ9;P32519	.;ELF1_HUMAN	I	34	ENSP00000405580:V34I;ENSP00000239882:V34I	ENSP00000239882:V34I	V	-	1	0	ELF1	40431125	1.000000	0.71417	0.444000	0.26895	0.341000	0.28922	5.485000	0.66850	2.780000	0.95670	0.655000	0.94253	GTA		0.418	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	
KBTBD6	89890	broad.mit.edu	37	13	41705852	41705852	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:41705852G>A	ENST00000379485.1	-	1	1030	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R200C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	266								p.R266C(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TGCATCCAGCGCACGCACTTG	0.567																																					p.R266C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C796T	13						.						47.0	49.0	48.0					13																	41705852		2203	4298	6501	40603852	SO:0001583	missense	89890	exon1			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.796C>T	13.37:g.41705852G>A	ENSP00000368799:p.Arg266Cys		40603852	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	17.65	3.441352	0.63067	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.81163	-1.46;-1.46	3.69	3.69	0.42338	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92050	0.5647	10	0.87932	D	0	.	13.2826	0.60224	0.0:0.0:1.0:0.0	.	200;266	F5GZN7;Q86V97	.;KBTB6_HUMAN	C	266;200	ENSP00000368799:R266C;ENSP00000444326:R200C	ENSP00000368799:R266C	R	-	1	0	KBTBD6	40603852	1.000000	0.71417	0.998000	0.56505	0.733000	0.41908	4.978000	0.63799	2.065000	0.61736	0.462000	0.41574	CGC		0.567	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
NAA16	79612	broad.mit.edu	37	13	41943328	41943328	+	Missense_Mutation	SNP	G	G	A	rs142294170		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:41943328G>A	ENST00000379406.3	+	15	2180	c.1856G>A	c.(1855-1857)cGt>cAt	p.R619H	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	619					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.R619H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						gaaagagaacgtcaacagaaa	0.368																																					p.R619H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856A	13						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	79.0	78.0		1856	3.8	1.0	13	dbSNP_134	78	0,8600		0,0,4300	no	missense	NAA16	NM_024561.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	619/865	41943328	1,13005	2203	4300	6503	40841328	SO:0001583	missense	79612	exon15			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1856G>A	13.37:g.41943328G>A	ENSP00000368716:p.Arg619His		40841328	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866800	0.51588	2.27E-4	0.0	ENSG00000172766	ENST00000379406	T	0.42900	0.96	5.58	3.85	0.44370	.	0.303958	0.28360	N	0.015632	T	0.24774	0.0601	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.04029	-1.0983	10	0.52906	T	0.07	-5.5967	9.3505	0.38136	0.2181:0.0:0.7819:0.0	.	619	Q6N069	NAA16_HUMAN	H	619	ENSP00000368716:R619H	ENSP00000368716:R619H	R	+	2	0	NAA16	40841328	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	4.409000	0.59768	0.714000	0.32081	0.655000	0.94253	CGT		0.368	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
VWA8	23078	broad.mit.edu	37	13	42263620	42263620	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:42263620T>G	ENST00000379310.3	-	34	4069	c.4001A>C	c.(4000-4002)aAa>aCa	p.K1334T	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1334						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K1334T(1)									ACTGGAAATTTTATGAGGTAT	0.353																																					p.K1334T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4001C	13						.						87.0	80.0	82.0					13																	42263620		1825	4087	5912	41161620	SO:0001583	missense	23078	exon34			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.4001A>C	13.37:g.42263620T>G	ENSP00000368612:p.Lys1334Thr		41161620	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829445	0.32329	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000478987	T	0.10192	2.9	5.21	1.32	0.21799	.	0.243434	0.41823	N	0.000801	T	0.05914	0.0154	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40869	-0.9540	10	0.18276	T	0.48	.	6.8289	0.23898	0.0:0.1549:0.4079:0.4372	.	1334	A3KMH1	K0564_HUMAN	T	1238;1334;105	ENSP00000368612:K1334T	ENSP00000251030:K1238T	K	-	2	0	KIAA0564	41161620	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.032000	0.30178	0.066000	0.16515	0.528000	0.53228	AAA		0.353	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
VWA8	23078	broad.mit.edu	37	13	42385433	42385433	+	Missense_Mutation	SNP	C	C	T	rs149571852		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:42385433C>T	ENST00000379310.3	-	17	2059	c.1991G>A	c.(1990-1992)cGa>cAa	p.R664Q	VWA8_ENST00000281496.6_Missense_Mutation_p.R664Q	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	664						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R664Q(1)									ACGAGAAATTCGCAACAGTTG	0.403																																					p.R664Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1991A	13						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	130.0	133.0	132.0		1991,1991	5.3	1.0	13	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense	KIAA0564	NM_001009814.1,NM_015058.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	664/1040,664/1906	42385433	1,13005	2203	4300	6503	41283433	SO:0001583	missense	23078	exon17			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.1991G>A	13.37:g.42385433C>T	ENSP00000368612:p.Arg664Gln		41283433	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198202	0.79015	2.27E-4	0.0	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.46451	0.87;0.87	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.85542	2.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.73905	-0.3835	10	0.56958	D	0.05	.	18.4783	0.90800	0.0:1.0:0.0:0.0	.	664	A3KMH1	K0564_HUMAN	Q	568;664;664	ENSP00000368612:R664Q;ENSP00000281496:R664Q	ENSP00000251030:R568Q	R	-	2	0	KIAA0564	41283433	0.984000	0.35163	0.986000	0.45419	0.289000	0.27227	6.600000	0.74132	2.457000	0.83068	0.585000	0.79938	CGA		0.403	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
AKAP11	11215	broad.mit.edu	37	13	42877281	42877281	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:42877281A>C	ENST00000025301.2	+	8	4574	c.4399A>C	c.(4399-4401)Aaa>Caa	p.K1467Q		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1467				LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117). {ECO:0000305}.	intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.K1467Q(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAGCATAACAAAAGATGCTAA	0.373																																					p.K1467Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4399C	13						.						74.0	80.0	78.0					13																	42877281		2202	4300	6502	41775281	SO:0001583	missense	11215	exon8			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4399A>C	13.37:g.42877281A>C	ENSP00000025301:p.Lys1467Gln		41775281	NM_016248	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	1.878	-0.458483	0.04508	.	.	ENSG00000023516	ENST00000025301	T	0.47177	0.85	5.75	2.06	0.26882	.	0.330321	0.30338	N	0.009842	T	0.18635	0.0447	N	0.02539	-0.55	0.09310	N	0.999997	B	0.12630	0.006	B	0.10450	0.005	T	0.21827	-1.0234	10	0.17832	T	0.49	.	8.03	0.30459	0.399:0.4227:0.0:0.1783	.	1467	Q9UKA4	AKA11_HUMAN	Q	1467	ENSP00000025301:K1467Q	ENSP00000025301:K1467Q	K	+	1	0	AKAP11	41775281	0.990000	0.36364	0.998000	0.56505	0.533000	0.34776	1.703000	0.37846	0.416000	0.25844	0.533000	0.62120	AAA		0.373	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
ENOX1	55068	broad.mit.edu	37	13	43896530	43896530	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:43896530G>A	ENST00000261488.6	-	11	1828	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	ENOX1_ENST00000412891.1_Silent_p.V417V|ENOX1_ENST00000540032.1_Silent_p.V230V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	417					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.V417V(1)		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)		CTGATTCATCGACTCTCATTT	0.448																																					p.V417V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1251T	13						.						179.0	164.0	169.0					13																	43896530		2203	4300	6503	42794530	SO:0001819	synonymous_variant	55068	exon11			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.1251C>T	13.37:g.43896530G>A			42794530	NM_001127615	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	ENST00000261488.6	37	CCDS9389.1																																																																																				0.448	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	
ENOX1	55068	broad.mit.edu	37	13	43935431	43935431	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:43935431A>C	ENST00000261488.6	-	6	943	c.366T>G	c.(364-366)ctT>ctG	p.L122L	ENOX1_ENST00000412891.1_Silent_p.L122L|ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	122	Pro-rich.				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.L122L(1)		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)		TTTGAGGAAAAAGAGTACAGC	0.373																																					p.L122L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T366G	13						.						85.0	90.0	88.0					13																	43935431		2203	4300	6503	42833431	SO:0001819	synonymous_variant	55068	exon6			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.366T>G	13.37:g.43935431A>C			42833431	NM_001127615	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	ENST00000261488.6	37	CCDS9389.1																																																																																				0.373	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	
SLC25A30	253512	broad.mit.edu	37	13	45970148	45970148	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:45970148G>T	ENST00000539591.1	-	9	847	c.684C>A	c.(682-684)ttC>ttA	p.F228L				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	279					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.F279L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ATGTCACAAAGAACTGTGGTT	0.393																																					p.F279L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C837A	13						.						189.0	163.0	172.0					13																	45970148		2203	4300	6503	44868148	SO:0001583	missense	253512	exon10			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.684C>A	13.37:g.45970148G>T	ENSP00000443542:p.Phe228Leu		44868148	NM_001010875	B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	37		.	.	.	.	.	.	.	.	.	.	.	17.45	3.392599	0.62066	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591	T;T	0.77229	-1.08;-1.08	5.55	3.82	0.43975	Mitochondrial carrier domain (2);	0.050843	0.85682	D	0.000000	T	0.69169	0.3081	L	0.35341	1.055	0.54753	D	0.999984	B	0.28378	0.209	B	0.37387	0.248	T	0.59364	-0.7468	10	0.17369	T	0.5	-15.5939	11.2323	0.48920	0.15:0.0:0.85:0.0	.	279	Q5SVS4	KMCP1_HUMAN	L	279;204;228	ENSP00000429168:F279L;ENSP00000443542:F228L	ENSP00000429168:F279L	F	-	3	2	SLC25A30	44868148	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.725000	0.68507	0.824000	0.34613	0.651000	0.88453	TTC		0.393	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736	
ZC3H13	23091	broad.mit.edu	37	13	46563175	46563175	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:46563175A>C	ENST00000242848.4	-	9	1350	c.1002T>G	c.(1000-1002)tcT>tcG	p.S334S	ZC3H13_ENST00000282007.3_Silent_p.S334S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	334	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S334S(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)		ATTGTGAGGAAGATGAGTGAT	0.408																																					p.S334S	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1002G	13						.						165.0	151.0	156.0					13																	46563175		2203	4300	6503	45461176	SO:0001819	synonymous_variant	23091	exon9			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.1002T>G	13.37:g.46563175A>C			45461176	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37																																																																																					0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
KIAA0226L	80183	broad.mit.edu	37	13	46918917	46918917	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:46918917A>G	ENST00000429979.1	-	14	2439	c.1835T>C	c.(1834-1836)gTc>gCc	p.V612A	KIAA0226L_ENST00000322896.6_Missense_Mutation_p.V455A|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.V545A|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.V477A|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S561P|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S561P|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.V612A|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.V455A	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	612								p.V612A(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGGGAAGATGACAGTCGTATT	0.323																																					p.V612A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1835C	13						.						90.0	80.0	84.0					13																	46918917		2203	4300	6503	45816918	SO:0001583	missense	80183	exon14			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.1835T>C	13.37:g.46918917A>G	ENSP00000396935:p.Val612Ala		45816918	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.16|18.16	3.561904|3.561904	0.65538|0.65538	.|.	.|.	ENSG00000102445|ENSG00000102445	ENST00000378797;ENST00000378787|ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T|T;T;T;T	0.47177|0.50813	0.85;0.85|0.73;0.73;0.73;0.76	6.03|6.03	4.85|4.85	0.62838|0.62838	.|.	2.686710|.	0.01355|.	N|.	0.012037|.	T|T	0.60625|0.60625	0.2283|0.2283	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	B|P;P;P;B;B	0.24368|0.46952	0.102|0.616;0.887;0.87;0.444;0.39	B|P;P;P;B;B	0.25759|0.54026	0.063|0.673;0.74;0.673;0.374;0.257	T|T	0.63157|0.63157	-0.6700|-0.6700	10|9	0.34782|0.59425	T|D	0.22|0.04	-12.7448|-12.7448	11.3472|11.3472	0.49567|0.49567	0.9298:0.0:0.0702:0.0|0.9298:0.0:0.0702:0.0	.|.	561|455;455;612;477;545	Q9H714-4|B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.|.;.;K226L_HUMAN;.;.	P|A	561|612;545;612;455;455;477	ENSP00000368074:S561P;ENSP00000368064:S561P|ENSP00000396935:V612A;ENSP00000368061:V545A;ENSP00000374558:V612A;ENSP00000437501:V477A	ENSP00000368064:S561P|ENSP00000315633:V455A	S|V	-|-	1|2	0|0	KIAA0226L|KIAA0226L	45816918|45816918	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.650000|0.650000	0.38633|0.38633	8.810000|8.810000	0.91950|0.91950	1.109000|1.109000	0.41680|0.41680	-0.250000|-0.250000	0.11733|0.11733	TCA|GTC		0.323	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	
KIAA0226L	80183	broad.mit.edu	37	13	46942290	46942290	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:46942290C>A	ENST00000429979.1	-	5	1317	c.713G>T	c.(712-714)aGt>aTt	p.S238I	KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S81I|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S171I|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S103I|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S238I|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S238I|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.S238I|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S238I|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S81I	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	238								p.S238I(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GACTTCTTTACTCCAGCTCTC	0.408																																					p.S238I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713T	13						.						144.0	125.0	131.0					13																	46942290		2203	4300	6503	45840291	SO:0001583	missense	80183	exon5			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.713G>T	13.37:g.46942290C>A	ENSP00000396935:p.Ser238Ile		45840291	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.820091	0.32145	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925;ENST00000417405	T;T;T;T;T;T;T;T	0.47869	0.83;0.87;0.86;0.86;0.87;0.86;0.88;0.84	5.92	-2.1	0.07210	.	1.453810	0.03553	N	0.225770	T	0.34424	0.0897	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.23854	0.006;0.092;0.006;0.003;0.004;0.052	B;B;B;B;B;B	0.20184	0.003;0.028;0.003;0.003;0.007;0.021	T	0.14699	-1.0463	10	0.39692	T	0.17	0.0269	3.4108	0.07357	0.1049:0.4567:0.103:0.3353	.	81;238;81;238;171;238	B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;Q9H714-3;Q9H714-4	.;.;.;K226L_HUMAN;.;.	I	238;238;238;171;238;238;81;81;103;103	ENSP00000368057:S238I;ENSP00000396935:S238I;ENSP00000368074:S238I;ENSP00000368061:S171I;ENSP00000374558:S238I;ENSP00000368064:S238I;ENSP00000437501:S103I;ENSP00000402357:S103I	ENSP00000315633:S81I	S	-	2	0	KIAA0226L	45840291	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	0.066000	0.14489	-0.353000	0.08224	0.650000	0.86243	AGT		0.408	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	
HTR2A	3356	broad.mit.edu	37	13	47466613	47466613	+	Silent	SNP	G	G	A	rs112426939		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:47466613G>A	ENST00000378688.4	-	2	656	c.525C>T	c.(523-525)gtC>gtT	p.V175V	HTR2A_ENST00000542664.1_Silent_p.V175V|HTR2A_ENST00000543956.1_Silent_p.V91V			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	175					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.V175V(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)	TCTGGATGGCGACGTAGCGGT	0.532																																					p.V91V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273T	13						.						247.0	238.0	241.0					13																	47466613		2203	4300	6503	46364614	SO:0001819	synonymous_variant	3356	exon2			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.525C>T	13.37:g.47466613G>A			46364614	NM_001165947	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																				0.532	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
NUDT15	55270	broad.mit.edu	37	13	48615145	48615145	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:48615145C>A	ENST00000258662.2	+	2	428	c.248C>A	c.(247-249)tCt>tAt	p.S83Y		NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	83	Interaction with PCNA.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)	p.S83Y(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GTTGTGAATTCTTTCATTGAG	0.388																																					p.S83Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C248A	13						.						73.0	70.0	71.0					13																	48615145		2203	4300	6503	47513146	SO:0001583	missense	55270	exon2				CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"""Nudix motif containing"""	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.248C>A	13.37:g.48615145C>A	ENSP00000258662:p.Ser83Tyr		47513146	NM_018283	A2RUR6|Q32Q27|Q6P2C9	Missense_Mutation	SNP	ENST00000258662.2	37	CCDS9407.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192240	0.78902	.	.	ENSG00000136159	ENST00000258662	T	0.12147	2.71	5.66	5.66	0.87406	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.052886	0.85682	D	0.000000	T	0.23289	0.0563	L	0.41027	1.25	0.58432	D	0.999997	D	0.55800	0.973	P	0.54174	0.744	T	0.00107	-1.2052	10	0.44086	T	0.13	-12.6931	17.2999	0.87180	0.0:1.0:0.0:0.0	.	83	Q9NV35	NUD15_HUMAN	Y	83	ENSP00000258662:S83Y	ENSP00000258662:S83Y	S	+	2	0	NUDT15	47513146	1.000000	0.71417	0.990000	0.47175	0.819000	0.46315	3.693000	0.54735	2.676000	0.91093	0.555000	0.69702	TCT		0.388	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3	NM_018283	
RB1	5925	broad.mit.edu	37	13	48937018	48937018	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:48937018G>A	ENST00000267163.4	+	8	924	c.786G>A	c.(784-786)cgG>cgA	p.R262R		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	262					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.R262R(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGAGTGCACGGATAGCAAAAC	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.R262R		yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	.	22	Whole gene deletion(15)|Unknown(6)|Substitution - coding silent(1)	bone(11)|breast(5)|large_intestine(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.G786A	13						.						108.0	114.0	112.0					13																	48937018		2203	4300	6503	47835019	SO:0001819	synonymous_variant	5925	exon8	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.786G>A	13.37:g.48937018G>A			47835019	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
KPNA3	3839	broad.mit.edu	37	13	50280284	50280284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:50280284C>A	ENST00000261667.3	-	14	1573	c.1159G>T	c.(1159-1161)Gaa>Taa	p.E387*		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	387	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.E387*(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-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;1.42e-09)		CAAGCAGCTTCTTTTTGTGTT	0.373																																					p.E387X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1159T	13						.						143.0	145.0	144.0					13																	50280284		2203	4300	6503	49178285	SO:0001587	stop_gained	3839	exon14			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1159G>T	13.37:g.50280284C>A	ENSP00000261667:p.Glu387*		49178285	NM_002267	O00191|O43195|Q5JVM9|Q96AA7	Nonsense_Mutation	SNP	ENST00000261667.3	37	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	C	43	10.056862	0.99326	.	.	ENSG00000102753	ENST00000261667	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.754	20.3011	0.98612	0.0:1.0:0.0:0.0	.	.	.	.	X	387	.	ENSP00000261667:E387X	E	-	1	0	KPNA3	49178285	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.771000	0.85420	2.804000	0.96469	0.650000	0.86243	GAA		0.373	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267	
TRIM13	10206	broad.mit.edu	37	13	50587063	50587063	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:50587063C>T	ENST00000378182.3	+	2	1725	c.987C>T	c.(985-987)gtC>gtT	p.V329V	TRIM13_ENST00000298772.5_Silent_p.V332V|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000356017.4_Silent_p.V332V|TRIM13_ENST00000420995.2_Silent_p.V329V|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000457662.2_Silent_p.V329V	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	329					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V329V(1)		large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		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;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTGTCATTGTCTTTGGTCCTA	0.408																																					p.V329V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987T	13						.						213.0	221.0	218.0					13																	50587063		2203	4300	6503	49485064	SO:0001819	synonymous_variant	10206	exon3			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.987C>T	13.37:g.50587063C>T			49485064	NM_005798	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Silent	SNP	ENST00000378182.3	37	CCDS9423.1																																																																																				0.408	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278	
KCNRG	283518	broad.mit.edu	37	13	50594584	50594584	+	Missense_Mutation	SNP	G	G	T	rs180865044	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:50594584G>T	ENST00000312942.1	+	2	1053	c.813G>T	c.(811-813)aaG>aaT	p.K271N	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	271					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)	p.K271N(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)		CTCAGATAAAGAAATGAAGTT	0.358													G|||	3	0.000599042	0.0	0.0	5008	,	,		20331	0.001		0.002	False		,,,				2504	0.0				p.K271N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G813T	13						.						62.0	58.0	60.0					13																	50594584		2203	4300	6503	49492585	SO:0001583	missense	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.813G>T	13.37:g.50594584G>T	ENSP00000324191:p.Lys271Asn		49492585	NM_173605	A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	CCDS9424.1	3	0.0013736263736263737	0	0.0	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	G	13.55	2.270832	0.40194	.	.	ENSG00000198553	ENST00000312942	T	0.56611	0.45	4.48	0.348	0.16026	.	0.935002	0.09015	N	0.860958	T	0.35740	0.0942	N	0.24115	0.695	0.23809	N	0.996785	B	0.02656	0.0	B	0.04013	0.001	T	0.27938	-1.0059	10	0.72032	D	0.01	.	5.6201	0.17453	0.0746:0.3074:0.4908:0.1273	.	271	Q8N5I3	KCNRG_HUMAN	N	271	ENSP00000324191:K271N	ENSP00000324191:K271N	K	+	3	2	KCNRG	49492585	1.000000	0.71417	0.979000	0.43373	0.886000	0.51366	1.078000	0.30754	-0.351000	0.08249	-0.270000	0.10280	AAG		0.358	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1		
INTS6	26512	broad.mit.edu	37	13	51952511	51952511	+	Missense_Mutation	SNP	C	C	T	rs373162022		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:51952511C>T	ENST00000311234.4	-	12	1938	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	INTS6_ENST00000490542.1_Missense_Mutation_p.R173Q|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.R311Q|INTS6_ENST00000425000.1_Missense_Mutation_p.R57Q|INTS6_ENST00000398119.2_Missense_Mutation_p.R476Q	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	489					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.R489Q(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)		ACCATGTGATCGGCTCCGGAC	0.398																																					p.R489Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1466A	13						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	121.0	117.0	118.0		1427,1466	5.2	1.0	13		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	INTS6	NM_001039937.1,NM_012141.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	476/875,489/888	51952511	1,13005	2203	4300	6503	50850512	SO:0001583	missense	26512	exon12			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.1466G>A	13.37:g.51952511C>T	ENSP00000310260:p.Arg489Gln		50850512	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960636	0.74016	0.0	1.16E-4	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.18	5.18	0.71444	.	0.062437	0.64402	D	0.000005	T	0.28134	0.0694	L	0.44542	1.39	0.80722	D	1	B	0.24721	0.11	B	0.25614	0.062	T	0.06789	-1.0807	10	0.13108	T	0.6	-8.72	17.6972	0.88285	0.0:1.0:0.0:0.0	.	489	Q9UL03	INT6_HUMAN	Q	489;476;311;57;173	ENSP00000310260:R489Q;ENSP00000381187:R476Q;ENSP00000419871:R311Q;ENSP00000406915:R57Q;ENSP00000419984:R173Q	ENSP00000310260:R489Q	R	-	2	0	INTS6	50850512	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	2.537000	0.45702	2.413000	0.81919	0.563000	0.77884	CGA		0.398	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
ATP7B	540	broad.mit.edu	37	13	52509101	52509101	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:52509101C>T	ENST00000242839.4	-	21	4345	c.4189G>A	c.(4189-4191)Gca>Aca	p.A1397T	ATP7B_ENST00000344297.5_Missense_Mutation_p.A1190T|ATP7B_ENST00000448424.2_Missense_Mutation_p.A1319T|ATP7B_ENST00000400366.3_Missense_Mutation_p.A1286T|ATP7B_ENST00000418097.2_Missense_Mutation_p.A1332T|ATP7B_ENST00000417240.2_Missense_Mutation_p.A608T|ATP7B_ENST00000400370.3_Missense_Mutation_p.A967T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1397					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.A1397T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACCTGGGATGCCGTCAGGGGC	0.592									Wilson disease																												p.A1397T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4189A	13						.						65.0	70.0	68.0					13																	52509101		2127	4241	6368	51407102	SO:0001583	missense	540	exon21	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.4189G>A	13.37:g.52509101C>T	ENSP00000242839:p.Ala1397Thr		51407102	NM_000053	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411238	0.25465	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.55	3.78	0.43462	.	0.318961	0.33916	N	0.004421	T	0.57330	0.2046	N	0.08118	0	0.54753	D	0.999983	P;B;P;B;B;B;B;B	0.45594	0.862;0.024;0.634;0.032;0.435;0.198;0.435;0.049	B;B;B;B;B;B;B;B	0.44278	0.445;0.027;0.085;0.044;0.085;0.257;0.085;0.011	T	0.55866	-0.8073	10	0.17369	T	0.5	-6.2367	14.6061	0.68481	0.0:0.4:0.6:0.0	.	1319;1349;1332;608;967;1286;1190;1397	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	T	1397;1286;1190;608;1319;967;1332	ENSP00000242839:A1397T;ENSP00000383217:A1286T;ENSP00000342559:A1190T;ENSP00000390360:A608T;ENSP00000416738:A1319T;ENSP00000383221:A967T;ENSP00000393343:A1332T	ENSP00000242839:A1397T	A	-	1	0	ATP7B	51407102	0.943000	0.32029	0.097000	0.21041	0.137000	0.21094	2.204000	0.42761	1.341000	0.45600	0.561000	0.74099	GCA		0.592	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
ALG11	440138	broad.mit.edu	37	13	52602541	52602541	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:52602541G>C	ENST00000521508.1	+	4	1299	c.1294G>C	c.(1294-1296)Gga>Cga	p.G432R	ALG11_ENST00000523764.1_3'UTR|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	432					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)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.G432R(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TCCTCACGAAGGAGATATAAC	0.448																																					p.G432R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1294C	13						.						125.0	113.0	117.0					13																	52602541		2203	4300	6503	51500542	SO:0001583	missense	9724	exon4			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.1294G>C	13.37:g.52602541G>C	ENSP00000430236:p.Gly432Arg		51500542	NM_001004127	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162850	0.57368	.	.	ENSG00000253710	ENST00000521508	T	0.80566	-1.39	5.82	4.98	0.66077	Glycosyl transferase, family 1 (1);	0.198087	0.43579	N	0.000547	D	0.87501	0.6193	H	0.94264	3.515	0.80722	D	1	B	0.24043	0.096	B	0.32624	0.149	D	0.87248	0.2271	10	0.87932	D	0	.	15.0613	0.71955	0.0681:0.0:0.9319:0.0	.	432	Q2TAA5	ALG11_HUMAN	R	432	ENSP00000430236:G432R	ENSP00000430236:G432R	G	+	1	0	ALG11	51500542	1.000000	0.71417	0.871000	0.34182	0.673000	0.39480	7.598000	0.82745	1.468000	0.48064	0.563000	0.77884	GGA		0.448	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127	
UTP14C	9724	broad.mit.edu	37	13	52604116	52604116	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:52604116G>A	ENST00000521776.2	+	2	1909	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	392					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.E392E(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGACCCTGAGCAAGTGCCAG	0.507																																					p.E392E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1176A	13						.						89.0	82.0	84.0					13																	52604116		2203	4300	6503	51502117	SO:0001819	synonymous_variant	9724	exon2			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1176G>A	13.37:g.52604116G>A			51502117	NM_021645	Q5FWG3|Q92555	Silent	SNP	ENST00000521776.2	37	CCDS31978.1																																																																																				0.507	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
NEK3	4752	broad.mit.edu	37	13	52728307	52728307	+	Splice_Site	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:52728307G>T	ENST00000400357.2	-	2	1412	c.119C>A	c.(118-120)tCt>tAt	p.S40Y	NEK3_ENST00000339406.3_Splice_Site_p.S40Y|NEK3_ENST00000378101.2_Splice_Site_p.S40Y|NEK3_ENST00000452082.2_Splice_Site_p.S61Y			P51956	NEK3_HUMAN	NIMA-related kinase 3	40	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.S40Y(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)		ATTAGAGAAAGACTAGAAAAA	0.289																																					p.S40Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119A	13						.						28.0	27.0	27.0					13																	52728307		1794	4067	5861	51626308	SO:0001630	splice_region_variant	4752	exon3			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	ENST00000400357.2:c.118-1C>A	13.37:g.52728307G>T			51626308	NM_001146099	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133185	0.56828	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000550841	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.9	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.389995	0.31392	N	0.007726	T	0.77671	0.4165	.	.	.	0.45005	D	0.998028	P;P	0.49862	0.899;0.929	P;P	0.55222	0.771;0.714	T	0.80699	-0.1266	9	0.66056	D	0.02	.	15.3218	0.74126	0.0674:0.0:0.9326:0.0	.	40;61	P51956;Q6ZN64	NEK3_HUMAN;.	Y	40;40;40;61;40	ENSP00000339429:S40Y;ENSP00000367341:S40Y;ENSP00000383210:S40Y;ENSP00000404197:S61Y;ENSP00000449679:S40Y	ENSP00000448782:S40Y	S	-	2	0	NEK3	51626308	1.000000	0.71417	0.788000	0.31933	0.591000	0.36615	3.393000	0.52544	1.496000	0.48567	0.591000	0.81541	TCT		0.289	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		Missense_Mutation
VPS36	51028	broad.mit.edu	37	13	52997720	52997720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:52997720G>A	ENST00000378060.4	-	10	856	c.829C>T	c.(829-831)Cga>Tga	p.R277*		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	277					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R277*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		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;3.14e-08)		TCCATTCCTCGAGCTCGGTTT	0.323																																					p.R277X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C829T	13						.						112.0	115.0	114.0					13																	52997720		2203	4300	6503	51895721	SO:0001587	stop_gained	51028	exon10			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.829C>T	13.37:g.52997720G>A	ENSP00000367299:p.Arg277*		51895721	NM_016075	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	ENST00000378060.4	37	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	34	5.335969	0.95758	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.91	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1025	9.4917	0.38965	0.0723:0.0:0.7879:0.1398	.	.	.	.	X	277	.	ENSP00000367299:R277X	R	-	1	2	VPS36	51895721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.090000	0.50191	2.793000	0.96121	0.655000	0.94253	CGA		0.323	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3		
SUGT1	10910	broad.mit.edu	37	13	53232568	53232568	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:53232568C>A	ENST00000343788.6	+	4	304	c.222C>A	c.(220-222)ctC>ctA	p.L74L	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Silent_p.L74L|SUGT1_ENST00000535397.1_Silent_p.L18L	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	74					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.L74L(1)		kidney(3)|large_intestine(3)|lung(2)	8		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;3.25e-08)		CTCTAGAACTCAATCCAAATA	0.358																																					p.L74L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222A	13						.						120.0	118.0	118.0					13																	53232568		2203	4300	6503	52130569	SO:0001819	synonymous_variant	10910	exon4			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.222C>A	13.37:g.53232568C>A			52130569	NM_001130912	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Silent	SNP	ENST00000343788.6	37	CCDS45050.1																																																																																				0.358	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2		
OLFM4	10562	broad.mit.edu	37	13	53616083	53616083	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:53616083G>T	ENST00000219022.2	+	3	474	c.396G>T	c.(394-396)aaG>aaT	p.K132N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	132					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.K132N(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGTATGAAAAGAAACTGTTAA	0.393																																					p.K132N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G396T	13						.						108.0	102.0	104.0					13																	53616083		2203	4300	6503	52514084	SO:0001583	missense	10562	exon3			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.396G>T	13.37:g.53616083G>T	ENSP00000219022:p.Lys132Asn		52514084	NM_006418	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	4.486	0.090020	0.08632	.	.	ENSG00000102837	ENST00000219022	D	0.90261	-2.64	5.71	3.04	0.35103	.	0.367428	0.30611	N	0.009258	D	0.84397	0.5463	L	0.48362	1.52	0.33722	D	0.617054	B	0.13145	0.007	B	0.14023	0.01	T	0.79371	-0.1831	10	0.25751	T	0.34	.	7.133	0.25512	0.2036:0.1297:0.6668:0.0	.	132	Q6UX06	OLFM4_HUMAN	N	132	ENSP00000219022:K132N	ENSP00000219022:K132N	K	+	3	2	OLFM4	52514084	0.986000	0.35501	0.965000	0.40720	0.032000	0.12392	1.684000	0.37649	0.771000	0.33359	-0.165000	0.13383	AAG		0.393	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
PCDH17	27253	broad.mit.edu	37	13	58207546	58207546	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:58207546G>A	ENST00000377918.3	+	1	892	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	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.R289H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTGCCTGACCGCGTGCGGGAG	0.577																																					p.R289H	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G866A	13						.						55.0	52.0	53.0					13																	58207546		2203	4300	6503	57105547	SO:0001583	missense	27253	exon1			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.866G>A	13.37:g.58207546G>A	ENSP00000367151:p.Arg289His		57105547	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577291	0.45902	.	.	ENSG00000118946	ENST00000377918	T	0.60920	0.15	4.73	4.73	0.59995	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	L	0.28400	0.85	0.52501	D	0.999953	P;P	0.45827	0.839;0.867	B;B	0.39971	0.211;0.315	T	0.44847	-0.9301	9	.	.	.	.	17.8954	0.88886	0.0:0.0:1.0:0.0	.	289;289	O14917-2;O14917	.;PCD17_HUMAN	H	289	ENSP00000367151:R289H	.	R	+	2	0	PCDH17	57105547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.213000	0.65230	2.470000	0.83445	0.650000	0.86243	CGC		0.577	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
DIAPH3	81624	broad.mit.edu	37	13	60565310	60565310	+	Missense_Mutation	SNP	C	C	T	rs145827856	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:60565310C>T	ENST00000400324.4	-	12	1563	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	DIAPH3_ENST00000400319.1_Missense_Mutation_p.R378Q|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R448Q|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R448Q|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R402Q|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R437Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	448	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R448Q(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATAATCATTTCGAATCAGCAA	0.299																																					p.R185Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G554A	13						.						65.0	65.0	65.0					13																	60565310		1799	4056	5855	59463311	SO:0001583	missense	81624	exon6			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1343G>A	13.37:g.60565310C>T	ENSP00000383178:p.Arg448Gln		59463311	NM_030932	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155917	0.94686	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-1.82;-2.26	5.63	5.63	0.86233	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	M	0.87038	2.855	0.44207	D	0.997034	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.989;0.949	D	0.94651	0.7839	10	0.59425	D	0.04	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	185;185;448	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	Q	448;448;437;402;378;437;378;402;448;185;448	ENSP00000383178:R448Q;ENSP00000383184:R448Q;ENSP00000367141:R437Q;ENSP00000383173:R378Q;ENSP00000383174:R402Q;ENSP00000267215:R448Q	ENSP00000267214:R185Q	R	-	2	0	DIAPH3	59463311	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.993000	0.76245	2.635000	0.89317	0.655000	0.94253	CGA		0.299	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
DIAPH3	81624	broad.mit.edu	37	13	60590270	60590270	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:60590270T>G	ENST00000400324.4	-	6	856	c.636A>C	c.(634-636)gaA>gaC	p.E212D	DIAPH3_ENST00000400319.1_Missense_Mutation_p.E142D|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000465066.1_5'Flank|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E212D|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E212D|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E166D|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E201D|DIAPH3-AS1_ENST00000432995.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	212	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E212D(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTCCAAAGCTTTCCACCCAAC	0.299																																					p.E212D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A636C	13						.						63.0	55.0	57.0					13																	60590270		1815	4070	5885	59488271	SO:0001583	missense	81624	exon6			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.636A>C	13.37:g.60590270T>G	ENSP00000383178:p.Glu212Asp		59488271	NM_001042517	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962316	0.53400	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	6.17	0.916	0.19373	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.163817	0.56097	D	0.000038	D	0.87637	0.6227	M	0.68952	2.095	0.26291	N	0.978127	P;P;P;B	0.41420	0.749;0.676;0.676;0.174	P;P;P;B	0.48454	0.578;0.454;0.454;0.171	T	0.77504	-0.2563	10	0.26408	T	0.33	.	6.3448	0.21343	0.0:0.2574:0.1195:0.6231	.	142;166;201;212	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	D	212;212;201;166;142;201;142;166;212;212	ENSP00000383178:E212D;ENSP00000383184:E212D;ENSP00000367141:E201D;ENSP00000383173:E142D;ENSP00000383174:E166D;ENSP00000267215:E212D	ENSP00000267215:E212D	E	-	3	2	DIAPH3	59488271	0.997000	0.39634	0.951000	0.38953	0.952000	0.60782	0.334000	0.19787	-0.038000	0.13624	0.533000	0.62120	GAA		0.299	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
TDRD3	81550	broad.mit.edu	37	13	61102911	61102911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:61102911G>T	ENST00000196169.3	+	11	2061	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	TDRD3_ENST00000535286.1_Nonsense_Mutation_p.E518*|TDRD3_ENST00000377894.2_Nonsense_Mutation_p.E425*|TDRD3_ENST00000377881.2_Nonsense_Mutation_p.E425*	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	425					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.E425*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGAGGCAAAAGAAAATCCACT	0.353																																					p.E425X	Colon(36;164 906 35820 50723)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1273T	13						.						59.0	67.0	64.0					13																	61102911		2203	4300	6503	60000912	SO:0001587	stop_gained	81550	exon11			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1273G>T	13.37:g.61102911G>T	ENSP00000196169:p.Glu425*		60000912	NM_001146071	B2MWP9|Q53XA6|Q6P992	Nonsense_Mutation	SNP	ENST00000196169.3	37	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	39	7.302980	0.98200	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	.	.	.	6.16	6.16	0.99307	.	0.178707	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-20.8889	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	425;425;425;518	.	ENSP00000196169:E425X	E	+	1	0	TDRD3	60000912	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.650000	0.67944	2.937000	0.99478	0.650000	0.86243	GAA		0.353	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
TDRD3	81550	broad.mit.edu	37	13	61103095	61103095	+	Missense_Mutation	SNP	G	G	A	rs144284013	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:61103095G>A	ENST00000196169.3	+	11	2245	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	TDRD3_ENST00000535286.1_Missense_Mutation_p.R579Q|TDRD3_ENST00000377894.2_Missense_Mutation_p.R486Q|TDRD3_ENST00000377881.2_Missense_Mutation_p.R486Q	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	486					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.R486Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AATCCAGTTCGAAGTAATAGT	0.338																																					p.R486Q	Colon(36;164 906 35820 50723)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1457A	13						.						41.0	41.0	41.0					13																	61103095		2203	4300	6503	60001096	SO:0001583	missense	81550	exon11			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1457G>A	13.37:g.61103095G>A	ENSP00000196169:p.Arg486Gln		60001096	NM_001146071	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	6.853	0.526587	0.13066	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93604	-3.22;-3.22;-3.22;-3.25	5.84	4.07	0.47477	.	0.498207	0.23883	N	0.043637	D	0.86138	0.5861	L	0.31294	0.92	0.30930	N	0.727049	B;B;B	0.22346	0.04;0.068;0.024	B;B;B	0.12837	0.008;0.007;0.002	T	0.78471	-0.2191	9	.	.	.	-4.5306	6.9852	0.24725	0.1427:0.0:0.7155:0.1418	.	579;485;486	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	Q	486;486;486;579	ENSP00000196169:R486Q;ENSP00000367113:R486Q;ENSP00000367126:R486Q;ENSP00000440190:R579Q	.	R	+	2	0	TDRD3	60001096	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	2.308000	0.43690	0.899000	0.36444	-0.188000	0.12872	CGA		0.338	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
PCDH9	5101	broad.mit.edu	37	13	67801793	67801793	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:67801793A>G	ENST00000377865.2	-	1	914	c.780T>C	c.(778-780)caT>caC	p.H260H	PCDH9_ENST00000456367.1_Silent_p.H260H|PCDH9_ENST00000377861.3_Silent_p.H260H|PCDH9_ENST00000544246.1_Silent_p.H260H|PCDH9_ENST00000328454.5_Silent_p.H260H			Q9HC56	PCDH9_HUMAN	protocadherin 9	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.H260H(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)		TCTCTGGAATATGCACCTCCA	0.478																																					p.H260H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T780C	13						.						124.0	113.0	116.0					13																	67801793		2203	4300	6503	66699794	SO:0001819	synonymous_variant	5101	exon2			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.780T>C	13.37:g.67801793A>G			66699794	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																				0.478	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
DIS3	22894	broad.mit.edu	37	13	73350083	73350083	+	Missense_Mutation	SNP	C	C	T	rs373230191		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:73350083C>T	ENST00000377767.4	-	5	902	c.802G>A	c.(802-804)Gac>Aac	p.D268N	DIS3_ENST00000545453.1_Missense_Mutation_p.D106N|DIS3_ENST00000377780.4_Missense_Mutation_p.D238N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	268					CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.D268N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCTTCATTGTCGCCATGAATC	0.303										Multiple Myeloma(4;0.011)																											p.D238N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	13						.	C	ASN/ASP,ASN/ASP	1,4403	2.1+/-5.4	0,1,2201	77.0	72.0	73.0		712,802	5.7	1.0	13		73	0,8596		0,0,4298	no	missense,missense	DIS3	NM_001128226.1,NM_014953.3	23,23	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	238/929,268/959	73350083	1,12999	2202	4298	6500	72248084	SO:0001583	missense	22894	exon5			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.802G>A	13.37:g.73350083C>T	ENSP00000366997:p.Asp268Asn		72248084	NM_001128226	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447213	0.84101	2.27E-4	0.0	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.32753	1.44;1.44;1.44	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.49350	1.555	0.80722	D	1	D;D	0.76494	0.999;0.957	P;B	0.59825	0.864;0.357	T	0.21861	-1.0233	10	0.38643	T	0.18	.	19.7458	0.96251	0.0:1.0:0.0:0.0	.	238;268	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	N	268;238;106	ENSP00000366997:D268N;ENSP00000367011:D238N;ENSP00000440058:D106N	ENSP00000366997:D268N	D	-	1	0	DIS3	72248084	1.000000	0.71417	0.962000	0.40283	0.665000	0.39181	7.776000	0.85560	2.654000	0.90174	0.650000	0.86243	GAC		0.303	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
TBC1D4	9882	broad.mit.edu	37	13	75886940	75886940	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:75886940G>A	ENST00000377636.3	-	13	2663	c.2317C>T	c.(2317-2319)Cgg>Tgg	p.R773W	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R710W|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R765W|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	773					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.R773W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATGCGCTGCCGCCAGGAGATC	0.522																																					p.R773W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2317T	13						.						77.0	80.0	79.0					13																	75886940		1959	4152	6111	74784941	SO:0001583	missense	9882	exon13			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2317C>T	13.37:g.75886940G>A	ENSP00000366863:p.Arg773Trp		74784941	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983598	0.74474	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.53	0.134	0.14771	.	0.000000	0.64402	D	0.000005	T	0.64875	0.2638	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.70673	-0.4807	10	0.87932	D	0	-25.4868	17.6735	0.88224	0.0:0.0:0.3699:0.6301	.	710;765;773	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	W	773;765;710;222	ENSP00000366863:R773W;ENSP00000395986:R765W;ENSP00000366852:R710W;ENSP00000396932:R222W	ENSP00000366852:R710W	R	-	1	2	TBC1D4	74784941	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	1.543000	0.36147	0.050000	0.15949	-0.182000	0.12963	CGG		0.522	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
TBC1D4	9882	broad.mit.edu	37	13	75900509	75900509	+	Silent	SNP	C	C	T	rs143268388		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:75900509C>T	ENST00000377636.3	-	10	2203	c.1857G>A	c.(1855-1857)ccG>ccA	p.P619P	TBC1D4_ENST00000377625.2_Silent_p.P619P|TBC1D4_ENST00000431480.2_Silent_p.P619P|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	619			P -> L (in dbSNP:rs56223054).		cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P619P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAGCTGAGGACGGTGGGGACG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20245	0.0		0.0	False		,,,				2504	0.0				p.P619P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1857A	13						.						82.0	86.0	85.0					13																	75900509		2020	4178	6198	74798510	SO:0001819	synonymous_variant	9882	exon10			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1857G>A	13.37:g.75900509C>T			74798510	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	CCDS41901.1																																																																																				0.577	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
TBC1D4	9882	broad.mit.edu	37	13	75911171	75911171	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:75911171A>C	ENST00000377636.3	-	8	1963	c.1617T>G	c.(1615-1617)atT>atG	p.I539M	TBC1D4_ENST00000377625.2_Missense_Mutation_p.I539M|TBC1D4_ENST00000431480.2_Missense_Mutation_p.I539M|TBC1D4_ENST00000425511.1_De_novo_Start_InFrame	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	539					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.I539M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACTATTTGAAATAGTCTAAA	0.303																																					p.I539M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1617G	13						.						73.0	67.0	69.0					13																	75911171		1796	4070	5866	74809172	SO:0001583	missense	9882	exon8			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1617T>G	13.37:g.75911171A>C	ENSP00000366863:p.Ile539Met		74809172	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265432	0.40095	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.24350	3.94;3.93;3.95;1.86	5.15	1.03	0.20045	.	0.843245	0.10373	N	0.682498	T	0.10680	0.0261	N	0.14661	0.345	0.33665	D	0.610144	P;B;B	0.47191	0.891;0.006;0.006	B;B;B	0.36378	0.223;0.007;0.005	T	0.29579	-1.0007	10	0.48119	T	0.1	-2.3724	1.9518	0.03368	0.5084:0.2322:0.1431:0.1163	.	539;539;539	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	M	539;539;539;51	ENSP00000366863:I539M;ENSP00000395986:I539M;ENSP00000366852:I539M;ENSP00000396932:I51M	ENSP00000366852:I539M	I	-	3	3	TBC1D4	74809172	0.877000	0.30153	0.994000	0.49952	0.716000	0.41182	1.050000	0.30404	0.362000	0.24319	0.460000	0.39030	ATT		0.303	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
FBXL3	26224	broad.mit.edu	37	13	77589590	77589590	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:77589590T>G	ENST00000355619.5	-	4	921	c.597A>C	c.(595-597)acA>acC	p.T199T	FBXL3_ENST00000477982.1_5'UTR	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	199					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.T199T(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)		ACAGCTTGAGTGTATCACTAT	0.393																																					p.T199T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A597C	13						.						148.0	130.0	136.0					13																	77589590		2203	4299	6502	76487591	SO:0001819	synonymous_variant	26224	exon4			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.597A>C	13.37:g.77589590T>G			76487591	NM_012158	B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	CCDS9457.1																																																																																				0.393	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3		
MYCBP2	23077	broad.mit.edu	37	13	77730270	77730270	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:77730270G>A	ENST00000544440.2	-	46	6741	c.6724C>T	c.(6724-6726)Cgt>Tgt	p.R2242C	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R2242C|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R2280C					MYC binding protein 2, E3 ubiquitin protein ligase									p.R2242C(2)|p.R2280C(2)		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)		CAACCACAACGAATATCATCC	0.373																																					p.R2280C												.	.	4	Substitution - Missense(4)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	c.C6838T	13						.						123.0	106.0	112.0					13																	77730270		2203	4300	6503	76628271	SO:0001583	missense	23077	exon46			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.6724C>T	13.37:g.77730270G>A	ENSP00000444596:p.Arg2242Cys		76628271	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	25.6	4.650690	0.87958	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.51817	0.69;0.69;0.69	5.6	5.6	0.85130	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.65315	-0.6198	10	0.87932	D	0	.	14.4557	0.67416	0.0:0.0:0.8528:0.1472	.	2242	O75592	MYCB2_HUMAN	C	2242;2280;2242	ENSP00000349892:R2242C;ENSP00000384288:R2280C;ENSP00000444596:R2242C	ENSP00000349892:R2242C	R	-	1	0	MYCBP2	76628271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.596000	0.61055	2.630000	0.89119	0.655000	0.94253	CGT		0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
MYCBP2	23077	broad.mit.edu	37	13	77780956	77780956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:77780956G>A	ENST00000544440.2	-	24	3324	c.3307C>T	c.(3307-3309)Cga>Tga	p.R1103*	MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.R1103*|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.R1141*					MYC binding protein 2, E3 ubiquitin protein ligase									p.R1103*(1)|p.R1141*(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)		GTATTTGGTCGAAACCTTTAA	0.373																																					p.R1141X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3421T	13						.						74.0	63.0	67.0					13																	77780956		2203	4300	6503	76678957	SO:0001587	stop_gained	23077	exon24			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.3307C>T	13.37:g.77780956G>A	ENSP00000444596:p.Arg1103*		76678957	NM_015057		Nonsense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	43	10.281328	0.99375	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.71	5.71	0.89125	.	0.192245	0.36893	N	0.002348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	19.846	0.96707	0.0:0.0:1.0:0.0	.	.	.	.	X	1103;1141;1103	.	ENSP00000349892:R1103X	R	-	1	2	MYCBP2	76678957	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.279000	0.72620	2.683000	0.91414	0.563000	0.77884	CGA		0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
MYCBP2	23077	broad.mit.edu	37	13	77817968	77817968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:77817968C>A	ENST00000544440.2	-	16	2403	c.2386G>T	c.(2386-2388)Gaa>Taa	p.E796*	MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E796*|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.E834*					MYC binding protein 2, E3 ubiquitin protein ligase									p.E796*(1)|p.E834*(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)		GGTATCATTTCTTTCACTGCA	0.388																																					p.E834X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2500T	13						.						123.0	99.0	107.0					13																	77817968		2203	4300	6503	76715969	SO:0001587	stop_gained	23077	exon16			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.2386G>T	13.37:g.77817968C>A	ENSP00000444596:p.Glu796*		76715969	NM_015057		Nonsense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	41	8.993657	0.99029	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.5546	0.95338	0.0:1.0:0.0:0.0	.	.	.	.	X	796;834;796	.	ENSP00000349892:E796X	E	-	1	0	MYCBP2	76715969	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.622000	0.88805	0.655000	0.94253	GAA		0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
SLITRK6	84189	broad.mit.edu	37	13	86368179	86368179	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:86368179T>G	ENST00000400286.2	-	2	3063	c.2465A>C	c.(2464-2466)gAa>gCa	p.E822A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	822					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.E822A(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)		AGCTTTAAGTTCAAAATACTC	0.398																																					p.E822A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2465C	13						.						110.0	103.0	105.0					13																	86368179		1875	4085	5960	85266180	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.2465A>C	13.37:g.86368179T>G	ENSP00000383143:p.Glu822Ala		85266180	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656611	0.67586	.	.	ENSG00000184564	ENST00000400286	T	0.62941	-0.01	5.81	5.81	0.92471	.	0.000000	0.64402	U	0.000002	T	0.74329	0.3702	L	0.52011	1.625	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.75872	-0.3164	10	0.59425	D	0.04	-10.7882	15.0043	0.71498	0.0:0.0:0.0:1.0	.	822	Q9H5Y7	SLIK6_HUMAN	A	822	ENSP00000383143:E822A	ENSP00000383143:E822A	E	-	2	0	SLITRK6	85266180	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.665000	0.83852	2.217000	0.71921	0.519000	0.50382	GAA		0.398	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
DCT	1638	broad.mit.edu	37	13	95095788	95095788	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:95095788C>T	ENST00000377028.5	-	7	1696	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	DCT_ENST00000446125.1_Missense_Mutation_p.R461Q	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	428					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.R428Q(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)		GTTGTACATCCGATTGTGACC	0.463																																					p.R428Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1283A	13						.						111.0	103.0	106.0					13																	95095788		2203	4300	6503	93893789	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.1283G>A	13.37:g.95095788C>T	ENSP00000366227:p.Arg428Gln		93893789	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046789	0.55110	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	D;D	0.99311	-5.14;-5.73	5.86	4.11	0.48088	Uncharacterised domain, di-copper centre (2);	0.054407	0.64402	D	0.000001	D	0.98585	0.9527	M	0.88640	2.97	0.53005	D	0.999966	P;P	0.50819	0.939;0.612	B;B	0.41440	0.357;0.078	D	0.97919	1.0313	10	0.56958	D	0.05	-16.7575	11.1176	0.48270	0.0:0.8003:0.0:0.1997	.	461;428	Q09GT4;P40126	.;TYRP2_HUMAN	Q	35;428;461	ENSP00000366227:R428Q;ENSP00000392762:R461Q	ENSP00000366220:R35Q	R	-	2	0	DCT	93893789	0.995000	0.38212	1.000000	0.80357	0.574000	0.36063	3.237000	0.51344	1.473000	0.48159	0.650000	0.86243	CGG		0.463	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DCT	1638	broad.mit.edu	37	13	95121132	95121132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:95121132C>T	ENST00000377028.5	-	2	876	c.463G>A	c.(463-465)Gac>Aac	p.D155N	DCT_ENST00000446125.1_Missense_Mutation_p.D155N|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	155					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.D155N(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)		ATCACGTAGTCGGGGTGTACT	0.522																																					p.D155N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463A	13						.						224.0	220.0	222.0					13																	95121132		2203	4300	6503	93919133	SO:0001583	missense	1638	exon2			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.463G>A	13.37:g.95121132C>T	ENSP00000366227:p.Asp155Asn		93919133	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478678	0.84747	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99070	-5.39;-5.39	5.69	5.69	0.88448	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.63283	0.913;0.704	D	0.99425	1.0934	9	.	.	.	-34.7077	19.8199	0.96589	0.0:1.0:0.0:0.0	.	155;155	Q09GT4;P40126	.;TYRP2_HUMAN	N	155	ENSP00000366227:D155N;ENSP00000392762:D155N	.	D	-	1	0	DCT	93919133	1.000000	0.71417	0.992000	0.48379	0.236000	0.25371	7.487000	0.81328	2.677000	0.91161	0.655000	0.94253	GAC		0.522	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
ABCC4	10257	broad.mit.edu	37	13	95673844	95673844	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:95673844G>A	ENST00000376887.4	-	31	4077	c.3963C>T	c.(3961-3963)ttC>ttT	p.F1321F	RNU6-62P_ENST00000516526.1_RNA|ABCC4_ENST00000412704.1_Silent_p.F1274F	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1321					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.F1321F(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)	GTGCTGTCTCGAAAATAGTTA	0.378																																					p.F1321F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3963T	13						.						139.0	123.0	128.0					13																	95673844		2203	4300	6503	94471845	SO:0001819	synonymous_variant	10257	exon31			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.3963C>T	13.37:g.95673844G>A			94471845	NM_005845	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	CCDS9474.1																																																																																				0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
ABCC4	10257	broad.mit.edu	37	13	95858796	95858796	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:95858796C>T	ENST00000376887.4	-	8	1265	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	ABCC4_ENST00000431522.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000536256.1_Missense_Mutation_p.R309Q|ABCC4_ENST00000412704.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					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.R384Q(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)	CTGGATTCTTCGGATGCTGAC	0.478																																					p.R384Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1151A	13						.						92.0	88.0	89.0					13																	95858796		2203	4300	6503	94656797	SO:0001583	missense	10257	exon8			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.1151G>A	13.37:g.95858796C>T	ENSP00000366084:p.Arg384Gln		94656797	NM_001105515	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757812	0.31137	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.94417	-2.89;-2.89;-3.42;-2.89	5.34	2.21	0.28008	ABC transporter, transmembrane domain, type 1 (1);	0.398379	0.25848	N	0.027915	D	0.88665	0.6498	N	0.25485	0.75	0.21386	N	0.999704	B;B;B;B;B	0.22080	0.02;0.029;0.005;0.064;0.001	B;B;B;B;B	0.18561	0.006;0.006;0.022;0.006;0.006	T	0.79047	-0.1963	10	0.39692	T	0.17	.	11.4336	0.50056	0.0:0.762:0.0:0.238	.	309;384;384;384;384	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	Q	384;384;309;384	ENSP00000388657:R384Q;ENSP00000366084:R384Q;ENSP00000442024:R309Q;ENSP00000398562:R384Q	ENSP00000366084:R384Q	R	-	2	0	ABCC4	94656797	0.000000	0.05858	0.991000	0.47740	0.988000	0.76386	0.466000	0.22019	0.621000	0.30232	0.655000	0.94253	CGA		0.478	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
DZIP1	22873	broad.mit.edu	37	13	96234559	96234559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:96234559C>A	ENST00000376829.2	-	23	3384	c.2533G>T	c.(2533-2535)Gaa>Taa	p.E845*	DZIP1_ENST00000347108.3_Nonsense_Mutation_p.E845*|DZIP1_ENST00000361156.3_Nonsense_Mutation_p.E826*|DZIP1_ENST00000361396.2_Nonsense_Mutation_p.E826*	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	845					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.E826*(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)			GATTCATTTTCTTGAAGTCCT	0.378																																					p.E826X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2476T	13						.						188.0	159.0	168.0					13																	96234559		2203	4300	6503	95032560	SO:0001587	stop_gained	22873	exon22			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.2533G>T	13.37:g.96234559C>A	ENSP00000366025:p.Glu845*		95032560	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Nonsense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	46	12.825221	0.99699	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	.	.	.	5.24	5.24	0.73138	.	0.436525	0.23547	N	0.047018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-2.7333	17.3858	0.87415	0.0:1.0:0.0:0.0	.	.	.	.	X	845;826;826;845	.	ENSP00000257312:E845X	E	-	1	0	DZIP1	95032560	1.000000	0.71417	0.806000	0.32338	0.762000	0.43233	4.399000	0.59703	2.605000	0.88082	0.591000	0.81541	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	96242540	96242540	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:96242540G>A	ENST00000376829.2	-	17	2687	c.1836C>T	c.(1834-1836)ctC>ctT	p.L612L	DZIP1_ENST00000347108.3_Silent_p.L612L|DZIP1_ENST00000361156.3_Silent_p.L593L|DZIP1_ENST00000361396.2_Silent_p.L593L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	612					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.L593L(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)			TACCTGAAGAGAGTAGTGCTT	0.328																																					p.L593L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1779T	13						.						184.0	167.0	173.0					13																	96242540		2203	4300	6503	95040541	SO:0001819	synonymous_variant	22873	exon16			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.1836C>T	13.37:g.96242540G>A			95040541	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.328	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
UGGT2	55757	broad.mit.edu	37	13	96665656	96665656	+	Missense_Mutation	SNP	C	C	T	rs142967468		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:96665656C>T	ENST00000376747.3	-	5	635	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	UGGT2_ENST00000376712.4_Missense_Mutation_p.E189K|UGGT2_ENST00000397618.3_Missense_Mutation_p.E189K|UGGT2_ENST00000376714.3_Missense_Mutation_p.E189K|UGGT2_ENST00000467305.1_5'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	189					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.E189K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTACCCATTTCGGCATAGAGA	0.343																																					p.E189K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G565A	13						.	C	LYS/GLU	0,4404		0,0,2202	101.0	96.0	98.0		565	5.5	1.0	13	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	UGGT2	NM_020121.3	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	189/1517	96665656	1,13003	2202	4300	6502	95463657	SO:0001583	missense	55757	exon5			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.565G>A	13.37:g.96665656C>T	ENSP00000365938:p.Glu189Lys		95463657	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198700	0.94997	0.0	1.16E-4	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.31247	3.1;1.5	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.91635	0.999;0.999;0.892	T	0.71609	-0.4541	10	0.87932	D	0	-27.2447	19.3752	0.94505	0.0:1.0:0.0:0.0	.	189;189;189	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	K	189	ENSP00000365938:E189K;ENSP00000380743:E189K	ENSP00000365902:E189K	E	-	1	0	UGGT2	95463657	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.369000	0.66138	2.576000	0.86940	0.591000	0.81541	GAA		0.343	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
UGGT2	55757	broad.mit.edu	37	13	96675374	96675374	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:96675374A>G	ENST00000376747.3	-	4	475	c.405T>C	c.(403-405)tgT>tgC	p.C135C	UGGT2_ENST00000376712.4_Silent_p.C135C|UGGT2_ENST00000397618.3_Silent_p.C135C|UGGT2_ENST00000376714.3_Silent_p.C135C	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	135					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.C135C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAAATGCATTACAACCATCTG	0.328																																					p.C135C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T405C	13						.						77.0	80.0	79.0					13																	96675374		2202	4299	6501	95473375	SO:0001819	synonymous_variant	55757	exon4			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.405T>C	13.37:g.96675374A>G			95473375	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	CCDS9480.1																																																																																				0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
HS6ST3	266722	broad.mit.edu	37	13	97485255	97485255	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:97485255C>A	ENST00000376705.2	+	2	1243	c.1219C>A	c.(1219-1221)Ctt>Att	p.L407I		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	407					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.L407I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GGACATGCAGCTTTACGAGTA	0.572																																					p.L407I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1219A	13						.						102.0	94.0	97.0					13																	97485255		2203	4300	6503	96283256	SO:0001583	missense	266722	exon2			AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1219C>A	13.37:g.97485255C>A	ENSP00000365895:p.Leu407Ile		96283256	NM_153456	Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445297	0.83993	.	.	ENSG00000185352	ENST00000376705	T	0.80393	-1.37	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	D	0.91030	0.7178	M	0.90369	3.11	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	D	0.92139	0.5719	10	0.87932	D	0	-7.1175	13.4516	0.61174	0.0:0.9288:0.0:0.0712	.	407	Q8IZP7	H6ST3_HUMAN	I	407	ENSP00000365895:L407I	ENSP00000365895:L407I	L	+	1	0	HS6ST3	96283256	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.091000	0.71406	2.793000	0.96121	0.561000	0.74099	CTT		0.572	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456	
OXGR1	27199	broad.mit.edu	37	13	97639025	97639025	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:97639025T>G	ENST00000298440.1	-	4	1232	c.989A>C	c.(988-990)aAa>aCa	p.K330T	OXGR1_ENST00000543457.1_Missense_Mutation_p.K330T	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	330					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.K330T(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GTAACTAATTTTCTTTGCTTG	0.393																																					p.K330T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A989C	13						.						107.0	109.0	109.0					13																	97639025		2203	4300	6503	96437026	SO:0001583	missense	27199	exon4			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.989A>C	13.37:g.97639025T>G	ENSP00000298440:p.Lys330Thr		96437026	NM_080818	Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	T	4.609	0.113195	0.08831	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.36699	1.24;1.24	5.87	3.49	0.39957	.	1.282020	0.05047	N	0.477491	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.19148	0.024	T	0.22103	-1.0226	10	0.21540	T	0.41	.	5.8691	0.18793	0.0:0.2766:0.0:0.7234	.	330	Q96P68	OXGR1_HUMAN	T	330	ENSP00000298440:K330T;ENSP00000438800:K330T	ENSP00000298440:K330T	K	-	2	0	OXGR1	96437026	0.003000	0.15002	0.029000	0.17559	0.062000	0.15995	0.784000	0.26816	1.166000	0.42689	0.533000	0.62120	AAA		0.393	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818	
RAP2A	5911	broad.mit.edu	37	13	98116607	98116607	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:98116607G>A	ENST00000245304.4	+	2	712	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	155					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E155K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			AATGGTGGACGAACTCTTTGC	0.463																																					p.E155K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463A	13						.						116.0	114.0	115.0					13																	98116607		2203	4300	6503	96914608	SO:0001583	missense	5911	exon2			AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.463G>A	13.37:g.98116607G>A	ENSP00000245304:p.Glu155Lys		96914608	NM_021033	B2RCJ1|Q5JSC1|Q5JSC2	Missense_Mutation	SNP	ENST00000245304.4	37	CCDS9485.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760836	0.69763	.	.	ENSG00000125249	ENST00000245304	D	0.82081	-1.57	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	M	0.62723	1.935	0.80722	D	1	B	0.21452	0.056	B	0.26770	0.073	T	0.79137	-0.1927	10	0.48119	T	0.1	.	19.8536	0.96748	0.0:0.0:1.0:0.0	.	155	P10114	RAP2A_HUMAN	K	155	ENSP00000245304:E155K	ENSP00000245304:E155K	E	+	1	0	RAP2A	96914608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.694000	0.91930	0.558000	0.71614	GAA		0.463	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4		
STK24	8428	broad.mit.edu	37	13	99116018	99116018	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:99116018C>T	ENST00000376547.3	-	7	1037	c.892G>A	c.(892-894)Gag>Aag	p.E298K	STK24_ENST00000539966.1_Missense_Mutation_p.E267K|STK24_ENST00000397517.2_Missense_Mutation_p.E286K	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	298					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.E298K(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)			TCGATGAGCTCGGTCAAGTAG	0.498																																					p.E298K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G892A	13						.						143.0	131.0	135.0					13																	99116018		2203	4300	6503	97914019	SO:0001583	missense	8428	exon7			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.892G>A	13.37:g.99116018C>T	ENSP00000365730:p.Glu298Lys		97914019	NM_003576	O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.19|19.19	3.780032|3.780032	0.70222|0.70222	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376554;ENST00000376547;ENST00000376541;ENST00000539966;ENST00000418038;ENST00000376533;ENST00000543110|ENST00000444574	T;T;T;T;T|.	0.42900|.	1.86;1.86;1.86;1.86;0.96|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Protein kinase-like domain (1);|.	0.000000|.	0.56097|.	U|.	0.000027|.	D|D	0.85665|0.85665	0.5749|0.5749	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	B;D;D|.	0.54601|.	0.443;0.967;0.962|.	B;B;P|.	0.45276|.	0.046;0.398;0.475|.	D|D	0.88615|0.88615	0.3159|0.3159	10|5	0.87932|.	D|.	0|.	.|.	18.8262|18.8262	0.92121|0.92121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	267;286;298|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	K|Q	286;87;298;101;267;8;274;286|203	ENSP00000380651:E286K;ENSP00000365737:E87K;ENSP00000365730:E298K;ENSP00000442539:E267K;ENSP00000402810:E8K|.	ENSP00000365716:E274K|.	E|R	-|-	1|2	0|0	STK24|STK24	97914019|97914019	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.421000|0.421000	0.31385|0.31385	7.711000|7.711000	0.84669|0.84669	2.441000|2.441000	0.82636|0.82636	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.498	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576	
SLC15A1	6564	broad.mit.edu	37	13	99374149	99374149	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:99374149G>T	ENST00000376503.5	-	6	429	c.374C>A	c.(373-375)tCc>tAc	p.S125Y		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	125					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.S125Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCCGATCAAGGACAGCACCCT	0.557																																					p.S125Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C374A	13						.						89.0	85.0	86.0					13																	99374149		2203	4300	6503	98172150	SO:0001583	missense	6564	exon6			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.374C>A	13.37:g.99374149G>T	ENSP00000365686:p.Ser125Tyr		98172150	NM_005073	Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331434	0.60853	.	.	ENSG00000088386	ENST00000376503;ENST00000376494;ENST00000313260	T	0.58060	0.36	5.67	2.93	0.34026	Major facilitator superfamily domain, general substrate transporter (1);	0.168936	0.53938	D	0.000041	T	0.75744	0.3891	M	0.87328	2.875	0.47441	D	0.999422	P;D	0.89917	0.845;1.0	P;D	0.76575	0.746;0.988	T	0.80585	-0.1317	10	0.72032	D	0.01	-28.5927	16.8161	0.85734	0.0:0.3898:0.6102:0.0	.	93;125	Q9BZ22;P46059	.;S15A1_HUMAN	Y	125;93;135	ENSP00000365686:S125Y	ENSP00000318937:S135Y	S	-	2	0	SLC15A1	98172150	1.000000	0.71417	0.956000	0.39512	0.535000	0.34838	5.633000	0.67825	0.295000	0.22570	0.655000	0.94253	TCC		0.557	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
GPR183	1880	broad.mit.edu	37	13	99947429	99947429	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:99947429T>G	ENST00000376414.4	-	2	1054	c.971A>C	c.(970-972)aAa>aCa	p.K324T	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	324					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.K324T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GACTTGCCGTTTCAGCATCCT	0.408																																					p.K324T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A971C	13						.						135.0	125.0	128.0					13																	99947429		2203	4300	6503	98745430	SO:0001583	missense	1880	exon2			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.971A>C	13.37:g.99947429T>G	ENSP00000365596:p.Lys324Thr		98745430	NM_004951	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394825	0.62066	.	.	ENSG00000169508	ENST00000376414	T	0.38077	1.16	5.91	3.5	0.40072	.	0.100454	0.64402	D	0.000002	T	0.41073	0.1143	L	0.32530	0.975	0.47659	D	0.999486	D	0.69078	0.997	D	0.64042	0.921	T	0.10314	-1.0635	9	.	.	.	.	8.0646	0.30652	0.0:0.2773:0.0:0.7227	.	324	P32249	GP183_HUMAN	T	324	ENSP00000365596:K324T	.	K	-	2	0	GPR183	98745430	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.172000	0.31908	0.500000	0.27991	0.533000	0.62120	AAA		0.408	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951	
UBAC2	337867	broad.mit.edu	37	13	100037484	100037484	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:100037484C>T	ENST00000403766.3	+	9	1065	c.930C>T	c.(928-930)gtC>gtT	p.V310V	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000376440.2_Silent_p.V275V	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	310	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V275V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCTGCAGGTCGCCCGGCTCA	0.542																																					p.V310V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C930T	13						.						65.0	62.0	63.0					13																	100037484		2203	4300	6503	98835485	SO:0001819	synonymous_variant	337867	exon9			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.930C>T	13.37:g.100037484C>T			98835485	NM_001144072	B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Silent	SNP	ENST00000403766.3	37	CCDS45064.1																																																																																				0.542	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967	
PCCA	5095	broad.mit.edu	37	13	100955220	100955220	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:100955220T>C	ENST00000376285.1	+	14	1290	c.1252T>C	c.(1252-1254)Tct>Cct	p.S418P	PCCA_ENST00000376279.3_Missense_Mutation_p.S418P|PCCA_ENST00000376286.4_Missense_Mutation_p.S392P	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	418	Biotin carboxylation.				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.S418P(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)	TGGGAGATTGTCTCAGTACCA	0.373																																					p.S418P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1252C	13						.						172.0	161.0	165.0					13																	100955220		2203	4300	6503	99753221	SO:0001583	missense	5095	exon14			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.1252T>C	13.37:g.100955220T>C	ENSP00000365462:p.Ser418Pro		99753221	NM_001178004	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947553	0.73787	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.81996	-1.56;-1.56;-1.56	5.49	5.49	0.81192	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87002	0.6069	L	0.52011	1.625	0.58432	D	0.999993	D;D;D	0.64830	0.983;0.979;0.994	P;P;P	0.60886	0.88;0.725;0.88	D	0.86015	0.1503	10	0.36615	T	0.2	.	15.8722	0.79129	0.0:0.0:0.0:1.0	.	418;392;418	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	P	392;418;418	ENSP00000365463:S392P;ENSP00000365456:S418P;ENSP00000365462:S418P	ENSP00000365456:S418P	S	+	1	0	PCCA	99753221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.595000	0.67563	2.205000	0.71048	0.528000	0.53228	TCT		0.373	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
SPACA7	122258	broad.mit.edu	37	13	113052412	113052412	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr13:113052412C>T	ENST00000283550.3	+	3	268	c.201C>T	c.(199-201)agC>agT	p.S67S	SPACA7_ENST00000375699.3_Silent_p.S36S	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	67						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)		p.S67S(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						CAACACCGAGCGAAATGCCAA	0.468																																					p.S67S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201T	13						.						168.0	151.0	157.0					13																	113052412		2203	4300	6503	112100413	SO:0001819	synonymous_variant	122258	exon3			BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.201C>T	13.37:g.113052412C>T			112100413	NM_145248	Q5T8L1	Silent	SNP	ENST00000283550.3	37	CCDS9524.1																																																																																				0.468	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248	
PPP2R5C	5527	broad.mit.edu	37	14	102359423	102359423	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:102359423C>A	ENST00000334743.5	+	7	824	c.776C>A	c.(775-777)tCt>tAt	p.S259Y	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.S259Y|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.S259Y|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.S314Y|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.S290Y|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.S259Y	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	259					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.S259Y(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AAAGTGAAATCTCTGAGTGTC	0.413																																					p.S259Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C776A	14						.						86.0	79.0	82.0					14																	102359423		2203	4300	6503	101429176	SO:0001583	missense	5527	exon7			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.776C>A	14.37:g.102359423C>A	ENSP00000333905:p.Ser259Tyr		101429176	NM_178587	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296661	0.95574	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.51574	0.71;0.71;0.7;0.76;0.7	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	M	0.91510	3.215	0.80722	D	1	D;P;D;D;D;D	0.89917	0.998;0.936;1.0;1.0;0.962;1.0	P;B;D;D;P;D	0.85130	0.865;0.439;0.992;0.995;0.785;0.997	T	0.82039	-0.0655	10	0.72032	D	0.01	-18.1777	19.3508	0.94384	0.0:1.0:0.0:0.0	.	290;157;259;259;259;314	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	Y	290;314;288;259;157;259;259;259;55	ENSP00000412324:S290Y;ENSP00000329009:S314Y;ENSP00000450931:S288Y;ENSP00000262239:S259Y;ENSP00000333905:S259Y	ENSP00000329009:S314Y	S	+	2	0	PPP2R5C	101429176	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	7.776000	0.85560	2.567000	0.86603	0.591000	0.81541	TCT		0.413	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719	
POTEG	404785	broad.mit.edu	37	14	19574195	19574195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:19574195G>T	ENST00000409832.3	+	9	1304	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	418								p.E418*(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTTGAAGAAGAAATGAAGAA	0.353																																					p.E418X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1252T	14						.						37.0	53.0	48.0					14																	19574195		1392	3122	4514	18644195	SO:0001587	stop_gained	404785	exon9				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1252G>T	14.37:g.19574195G>T	ENSP00000386971:p.Glu418*		18644195	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Nonsense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833496	0.50951	.	.	ENSG00000222036	ENST00000409832	.	.	.	1.39	0.451	0.16629	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	3.5704	0.07916	0.2653:0.0:0.7347:0.0	.	.	.	.	X	418	.	ENSP00000386971:E418X	E	+	1	0	POTEG	18644195	0.957000	0.32711	0.021000	0.16686	0.063000	0.16089	0.323000	0.19593	0.159000	0.19401	0.184000	0.17185	GAA		0.353	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
OR4K2	390431	broad.mit.edu	37	14	20344608	20344608	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:20344608T>G	ENST00000298642.2	+	1	218	c.182T>G	c.(181-183)tTc>tGc	p.F61C		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F61C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTATGTATTTCCTGCTTACC	0.398																																					p.F61C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T182G	14						.						378.0	363.0	368.0					14																	20344608		2203	4300	6503	19414448	SO:0001583	missense	390431	exon1				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.182T>G	14.37:g.20344608T>G	ENSP00000298642:p.Phe61Cys		19414448	NM_001005501	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	19.15	3.771849	0.69992	.	.	ENSG00000165762	ENST00000298642	T	0.00560	6.6	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.125172	0.36167	N	0.002756	T	0.03477	0.0100	H	0.96398	3.815	0.41751	D	0.989665	D	0.57571	0.98	P	0.61874	0.895	T	0.00896	-1.1523	10	0.87932	D	0	.	13.1857	0.59680	0.0:0.0:0.0:1.0	.	61	Q8NGD2	OR4K2_HUMAN	C	61	ENSP00000298642:F61C	ENSP00000298642:F61C	F	+	2	0	OR4K2	19414448	0.986000	0.35501	0.998000	0.56505	0.915000	0.54546	4.631000	0.61304	2.211000	0.71520	0.460000	0.39030	TTC		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
OR4K2	390431	broad.mit.edu	37	14	20345241	20345241	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:20345241C>A	ENST00000298642.2	+	1	851	c.815C>A	c.(814-816)tCt>tAt	p.S272Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S272Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGATTCTGTCTGTGTTTTAT	0.383																																					p.S272Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C815A	14						.						144.0	145.0	145.0					14																	20345241		2203	4300	6503	19415081	SO:0001583	missense	390431	exon1				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.815C>A	14.37:g.20345241C>A	ENSP00000298642:p.Ser272Tyr		19415081	NM_001005501	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453779	0.63290	.	.	ENSG00000165762	ENST00000298642	T	0.00274	8.35	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.141255	0.32901	N	0.005512	T	0.01092	0.0036	H	0.94462	3.54	0.37709	D	0.924502	D	0.89917	1.0	D	0.81914	0.995	T	0.50931	-0.8769	10	0.87932	D	0	.	16.183	0.81925	0.0:1.0:0.0:0.0	.	272	Q8NGD2	OR4K2_HUMAN	Y	272	ENSP00000298642:S272Y	ENSP00000298642:S272Y	S	+	2	0	OR4K2	19415081	0.001000	0.12720	1.000000	0.80357	0.918000	0.54935	0.843000	0.27640	2.681000	0.91329	0.591000	0.81541	TCT		0.383	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
OR4K1	79544	broad.mit.edu	37	14	20404025	20404025	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:20404025C>A	ENST00000285600.4	+	1	259	c.200C>A	c.(199-201)tCt>tAt	p.S67Y		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67Y(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)		AGTAATCTTTCTTTCATTGAT	0.398																																					p.S67Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C200A	14						.						263.0	276.0	272.0					14																	20404025		2203	4300	6503	19473865	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.200C>A	14.37:g.20404025C>A	ENSP00000285600:p.Ser67Tyr		19473865	NM_001004063	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	17.94	3.512125	0.64522	.	.	ENSG00000155249	ENST00000285600	T	0.12361	2.69	4.77	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.54854	0.1884	H	0.99425	4.56	0.35824	D	0.824777	D	0.89917	1.0	D	0.79108	0.992	T	0.76873	-0.2798	10	0.87932	D	0	.	10.9586	0.47372	0.0:0.9073:0.0:0.0927	.	67	Q8NGD4	OR4K1_HUMAN	Y	67	ENSP00000285600:S67Y	ENSP00000285600:S67Y	S	+	2	0	OR4K1	19473865	0.004000	0.15560	1.000000	0.80357	0.995000	0.86356	2.060000	0.41394	1.219000	0.43474	0.655000	0.94253	TCT		0.398	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		
OR4K17	390436	broad.mit.edu	37	14	20586306	20586306	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:20586306C>T	ENST00000315543.4	+	1	741	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I247I(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTGCTTATCTCCTACAGTC	0.418																																					p.I247I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741T	14						.						151.0	146.0	148.0					14																	20586306		2203	4300	6503	19656146	SO:0001819	synonymous_variant	390436	exon1				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.741C>T	14.37:g.20586306C>T			19656146	NM_001004715	Q6IF12	Silent	SNP	ENST00000315543.4	37	CCDS32030.1																																																																																				0.418	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1		
OR11G2	390439	broad.mit.edu	37	14	20666271	20666271	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:20666271C>T	ENST00000357366.3	+	1	777	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V259V(2)		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)		ATGCTCTGGTCGTGAGAGCTG	0.507																																					p.V259V												.	.	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C777T	14						.						199.0	195.0	196.0					14																	20666271		2203	4300	6503	19736111	SO:0001819	synonymous_variant	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.777C>T	14.37:g.20666271C>T			19736111	NM_001005503	Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	CCDS32032.1																																																																																				0.507	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
CCNB1IP1	57820	broad.mit.edu	37	14	20781828	20781828	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:20781828T>C	ENST00000398169.3	-	6	1046	c.430A>G	c.(430-432)Acc>Gcc	p.T144A	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.T144A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.T144A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.T144A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.T144A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.T144A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	144					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T144A(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TTCATGGAGGTAACCTCCCCT	0.413			T	HMGA2	leiomyoma																																p.T144A			Dom	yes		14	14q11.2	57820	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A430G	14						.						113.0	101.0	105.0					14																	20781828		2203	4300	6503	19851668	SO:0001583	missense	57820	exon5			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.430A>G	14.37:g.20781828T>C	ENSP00000381235:p.Thr144Ala		19851668	NM_182849		Missense_Mutation	SNP	ENST00000398169.3	37	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	T	9.539	1.112966	0.20795	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	5.14	5.14	0.70334	.	0.166981	0.52532	D	0.000069	T	0.15955	0.0384	N	0.04508	-0.205	0.18873	N	0.999986	B	0.02656	0.0	B	0.04013	0.001	T	0.18555	-1.0333	9	0.13470	T	0.59	-7.0516	10.0545	0.42237	0.1507:0.0:0.0:0.8493	.	144	Q9NPC3	CIP1_HUMAN	A	144	.	ENSP00000337396:T144A	T	-	1	0	CCNB1IP1	19851668	0.993000	0.37304	0.874000	0.34290	0.990000	0.78478	0.867000	0.27968	2.065000	0.61736	0.459000	0.35465	ACC		0.413	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852	
ANG	283	broad.mit.edu	37	14	21162079	21162079	+	Missense_Mutation	SNP	G	G	A	rs141398857		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:21162079G>A	ENST00000336811.6	+	2	956	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555597.1_Intron|AL163636.6_ENST00000553909.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.R119Q	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	119					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)	p.R119Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TGCCAGTACCGAGCCACAGCG	0.522																																					p.R119Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	14						.						100.0	98.0	99.0					14																	21162079		2203	4300	6503	20231919	SO:0001583	missense	283	exon2				CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"""Ribonucleases, RNase A"""	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.356G>A	14.37:g.21162079G>A	ENSP00000336762:p.Arg119Gln		20231919	NM_001097577	Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Missense_Mutation	SNP	ENST00000336811.6	37	CCDS9554.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074438	0.36566	.	.	ENSG00000214274	ENST00000336811;ENST00000397990	T;T	0.72615	-0.67;-0.67	4.97	4.08	0.47627	Ribonuclease A, domain (4);	0.692432	0.10438	U	0.674666	T	0.66886	0.2835	M	0.63843	1.955	0.80722	D	1	D	0.54601	0.967	B	0.41332	0.354	T	0.65421	-0.6172	10	0.49607	T	0.09	.	9.2348	0.37459	0.0976:0.0:0.9024:0.0	.	119	P03950	ANGI_HUMAN	Q	119	ENSP00000336762:R119Q;ENSP00000381077:R119Q	ENSP00000336762:R119Q	R	+	2	0	ANG	20231919	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	1.238000	0.32707	1.314000	0.45095	0.591000	0.81541	CGA		0.522	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073731.3	NM_001097577	
METTL17	64745	broad.mit.edu	37	14	21464794	21464794	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:21464794C>T	ENST00000339374.6	+	13	1422	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	METTL17_ENST00000382985.4_Missense_Mutation_p.R397C|SLC39A2_ENST00000298681.4_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.R397C|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	397					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.R397C(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TAAACGGCCTCGCCATGTGCA	0.572																																					p.R397C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1189T	14						.						72.0	61.0	65.0					14																	21464794		2203	4300	6503	20534634	SO:0001583	missense	64745	exon13			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1189C>T	14.37:g.21464794C>T	ENSP00000343041:p.Arg397Cys		20534634	NM_022734	Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	CCDS9562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.84|16.84	3.233947|3.233947	0.58886|0.58886	.|.	.|.	ENSG00000165792|ENSG00000165792	ENST00000339374;ENST00000382985|ENST00000556733	T;T|.	0.31247|.	1.5;1.5|.	5.34|5.34	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71796|0.71796	0.3382|0.3382	M|M	0.72894|0.72894	2.215|2.215	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|.	1.0;1.0;1.0|.	T|T	0.71909|0.71909	-0.4450|-0.4450	10|5	0.62326|.	D|.	0.03|.	.|.	13.2357|13.2357	0.59969|0.59969	0.1601:0.8399:0.0:0.0|0.1601:0.8399:0.0:0.0	.|.	397;397;397|.	Q9H7H0-3;Q9H7H0;Q9H7H0-2|.	.;MET17_HUMAN;.|.	C|L	397|72	ENSP00000343041:R397C;ENSP00000372445:R397C|.	ENSP00000343041:R397C|.	R|S	+|+	1|2	0|0	METTL17|METTL17	20534634|20534634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.408000|0.408000	0.30992|0.30992	4.549000|4.549000	0.60726|0.60726	1.246000|1.246000	0.43901|0.43901	-0.169000|-0.169000	0.13324|0.13324	CGC|TCG		0.572	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734	
RPGRIP1	57096	broad.mit.edu	37	14	21770698	21770698	+	Missense_Mutation	SNP	C	C	T	rs186266220	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:21770698C>T	ENST00000400017.2	+	4	542	c.542C>T	c.(541-543)gCg>gTg	p.A181V	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.A181V|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.A181V|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.A181V	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	181					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.A181V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGGAGCATGCGACAAATGAA	0.463																																					p.A181V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C542T	14						.						53.0	53.0	53.0					14																	21770698		1927	4138	6065	20840538	SO:0001583	missense	57096	exon4			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.542C>T	14.37:g.21770698C>T	ENSP00000382895:p.Ala181Val		20840538	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	1.568	-0.535004	0.04082	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.96	-1.57	0.08506	.	0.796445	0.11230	N	0.585766	T	0.11196	0.0273	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27020	-1.0086	10	0.25751	T	0.34	-1.656	4.5023	0.11870	0.145:0.346:0.0:0.509	.	181	Q96KN7	RPGR1_HUMAN	V	181	ENSP00000450445:A181V;ENSP00000451219:A181V;ENSP00000382895:A181V;ENSP00000206660:A181V	ENSP00000206660:A181V	A	+	2	0	RPGRIP1	20840538	0.000000	0.05858	0.001000	0.08648	0.245000	0.25701	-0.112000	0.10791	-0.448000	0.07128	-0.312000	0.09012	GCG		0.463	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
CHD8	57680	broad.mit.edu	37	14	21867787	21867787	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:21867787G>A	ENST00000557364.1	-	26	5158	c.4895C>T	c.(4894-4896)tCg>tTg	p.S1632L	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.S1353L|CHD8_ENST00000399982.2_Missense_Mutation_p.S1632L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1632					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.S1632L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATGAGCAGCGACTTGTCAGC	0.438																																					p.S1353L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4058T	14						.						116.0	113.0	114.0					14																	21867787		1980	4145	6125	20937627	SO:0001583	missense	57680	exon26			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4895C>T	14.37:g.21867787G>A	ENSP00000451601:p.Ser1632Leu		20937627	NM_020920	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308736	0.81247	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88277	-2.36;-2.36;-2.36	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.83953	2.67	0.53005	D	0.999966	D	0.69078	0.997	D	0.66196	0.942	D	0.94191	0.7441	10	0.52906	T	0.07	-3.5679	18.199	0.89832	0.0:0.0:1.0:0.0	.	1353	Q9HCK8-2	.	L	1353;1632;1352;1632	ENSP00000406288:S1353L;ENSP00000382863:S1632L;ENSP00000451601:S1632L	ENSP00000262707:S1352L	S	-	2	0	CHD8	20937627	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.340000	0.72973	2.828000	0.97474	0.655000	0.94253	TCG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
TOX4	9878	broad.mit.edu	37	14	21960829	21960829	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:21960829G>A	ENST00000405508.1	+	8	1330	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	TOX4_ENST00000262709.3_Missense_Mutation_p.A352T|TOX4_ENST00000448790.2_Missense_Mutation_p.A329T			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	352						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A352T(2)		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)		ATCCTATGTGGCAAACCAGGC	0.488																																					p.A352T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1054A	14						.						111.0	115.0	114.0					14																	21960829		2203	4300	6503	21030669	SO:0001583	missense	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.1054G>A	14.37:g.21960829G>A	ENSP00000385102:p.Ala352Thr		21030669	NM_014828	B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	5.164	0.215867	0.09810	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12569	2.67;2.67;2.67	4.89	3.99	0.46301	.	0.340046	0.31041	N	0.008361	T	0.06050	0.0157	N	0.08118	0	0.35077	D	0.763013	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29822	-0.9999	10	0.17832	T	0.49	.	8.4183	0.32685	0.0874:0.1601:0.7525:0.0	.	329;352	B4DPY8;O94842	.;TOX4_HUMAN	T	352;352;329;280	ENSP00000385102:A352T;ENSP00000262709:A352T;ENSP00000393080:A329T	ENSP00000262709:A352T	A	+	1	0	TOX4	21030669	0.977000	0.34250	1.000000	0.80357	0.995000	0.86356	0.765000	0.26546	2.703000	0.92315	0.555000	0.69702	GCA		0.488	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828	
SLC7A7	9056	broad.mit.edu	37	14	23239777	23239777	+	IGR	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:23239777C>A	ENST00000397532.3	-	0	2447				OXA1L_ENST00000604262.1_Silent_p.S259S|OXA1L_ENST00000358043.5_Silent_p.S243S|OXA1L_ENST00000285848.5_Silent_p.S319S|OXA1L_ENST00000412791.1_Silent_p.S259S|SLC7A7_ENST00000554061.1_5'Flank			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.S319S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TCACGGTATCCGATCCCATCT	0.527																																					p.S319S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C957A	14						.						97.0	84.0	88.0					14																	23239777		2203	4300	6503	22309617	SO:0001628	intergenic_variant	5018	exon6			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23239777C>A			22309617	NM_005015	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	CCDS9574.1																																																																																				0.527	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3		
SLC7A7	9056	broad.mit.edu	37	14	23242878	23242878	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:23242878C>A	ENST00000397532.3	-	10	2002	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*	SLC7A7_ENST00000397529.2_Nonsense_Mutation_p.E493*|SLC7A7_ENST00000555702.1_Nonsense_Mutation_p.E493*|SLC7A7_ENST00000554517.1_Nonsense_Mutation_p.E227*|SLC7A7_ENST00000397528.4_Nonsense_Mutation_p.E493*|SLC7A7_ENST00000285850.7_Nonsense_Mutation_p.E493*|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	493					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.E493*(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AAATCCATTTCTGCAGCAACT	0.488																																					p.E493X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1477T	14						.						146.0	125.0	132.0					14																	23242878		2203	4300	6503	22312718	SO:0001587	stop_gained	9056	exon11			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1477G>T	14.37:g.23242878C>A	ENSP00000380666:p.Glu493*		22312718	NM_001126106	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Nonsense_Mutation	SNP	ENST00000397532.3	37	CCDS9574.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.171887|7.171887	0.98111|0.98111	.|.	.|.	ENSG00000155465|ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517|ENST00000556350	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73434	.|0.3586	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71886	.|-0.4457	.|4	0.62326|.	D|.	0.03|.	.|.	16.9422|16.9422	0.86221|0.86221	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	493;493;493;466;493;493;227|157	.|.	ENSP00000285850:E493X|.	E|Q	-|-	1|3	0|2	SLC7A7|SLC7A7	22312718|22312718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.423000|4.423000	0.59861|0.59861	2.595000|2.595000	0.87683|0.87683	0.563000|0.563000	0.77884|0.77884	GAA|CAG		0.488	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3		
MYH6	4624	broad.mit.edu	37	14	23855568	23855568	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:23855568C>T	ENST00000356287.3	-	32	4944	c.4915G>A	c.(4915-4917)Gcc>Acc	p.A1639T	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.A1639T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1639					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.A1639T(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGGCCTCGGCAGCCATGCGG	0.607																																					p.A1639T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4915A	14						.						78.0	76.0	77.0					14																	23855568		2203	4300	6503	22925408	SO:0001583	missense	4624	exon33			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4915G>A	14.37:g.23855568C>T	ENSP00000348634:p.Ala1639Thr		22925408	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	13.34	2.208479	0.39003	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83992	-1.79;-1.79	4.5	-3.2	0.05156	Myosin tail (1);	.	.	.	.	T	0.80783	0.4689	M	0.64997	1.995	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.67321	-0.5700	9	0.44086	T	0.13	.	18.2732	0.90074	0.283:0.717:0.0:0.0	.	1639	P13533	MYH6_HUMAN	T	1639	ENSP00000386041:A1639T;ENSP00000348634:A1639T	ENSP00000348634:A1639T	A	-	1	0	MYH6	22925408	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.727000	0.04931	-0.372000	0.07992	0.561000	0.74099	GCC		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH7	4625	broad.mit.edu	37	14	23900159	23900159	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:23900159A>T	ENST00000355349.3	-	10	1008	c.846T>A	c.(844-846)gaT>gaA	p.D282E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	282	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.D282E(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)		AAATGTGATAATCTCTCTCTG	0.463																																					p.D282E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T846A	14						.						114.0	123.0	120.0					14																	23900159		2203	4300	6503	22969999	SO:0001583	missense	4625	exon10			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.846T>A	14.37:g.23900159A>T	ENSP00000347507:p.Asp282Glu		22969999	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.251735	0.39797	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95171	-3.63	3.62	2.46	0.29980	Myosin head, motor domain (2);	.	.	.	.	D	0.92237	0.7538	M	0.64997	1.995	0.42354	D	0.992385	B	0.17667	0.023	B	0.32211	0.142	D	0.87601	0.2497	9	0.66056	D	0.02	.	5.1079	0.14794	0.5737:0.0:0.4263:0.0	.	282	P12883	MYH7_HUMAN	E	282	ENSP00000347507:D282E	ENSP00000347507:D282E	D	-	3	2	MYH7	22969999	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	1.344000	0.33941	0.467000	0.27218	0.254000	0.18369	GAT		0.463	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
GMPR2	51292	broad.mit.edu	37	14	24707797	24707797	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:24707797C>T	ENST00000355299.4	+	10	1321	c.860C>T	c.(859-861)gCc>gTc	p.A287V	GMPR2_ENST00000557854.1_Missense_Mutation_p.A366V|GMPR2_ENST00000559910.1_Missense_Mutation_p.A254V|GMPR2_ENST00000559104.1_Missense_Mutation_p.A272V|GMPR2_ENST00000456667.3_Missense_Mutation_p.A259V|GMPR2_ENST00000399440.2_Missense_Mutation_p.A287V|GMPR2_ENST00000559836.1_Missense_Mutation_p.A287V|GMPR2_ENST00000348719.7_Missense_Mutation_p.A348V|GMPR2_ENST00000420554.2_Missense_Mutation_p.A305V	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	287	GMP binding.				GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|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.A287V(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ACTTTAAGAGCCTCAGAGGGA	0.473																																					p.A305V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C914T	14						.						94.0	87.0	89.0					14																	24707797		1945	4161	6106	23777637	SO:0001583	missense	51292	exon9				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.860C>T	14.37:g.24707797C>T	ENSP00000347449:p.Ala287Val		23777637	NM_016576	D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880340	0.91740	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.76;-0.89	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.049859	0.85682	D	0.000000	T	0.80088	0.4559	L	0.56340	1.77	0.41014	D	0.985028	P;P;P;P;P;P	0.44380	0.482;0.529;0.834;0.585;0.639;0.639	B;B;P;B;B;B	0.50896	0.154;0.35;0.653;0.212;0.318;0.268	T	0.78904	-0.2020	10	0.49607	T	0.09	-9.9551	19.3923	0.94587	0.0:1.0:0.0:0.0	.	124;259;348;305;289;287	Q86SZ5;Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;.;GMPR2_HUMAN	V	287;287;305;287;348;259	ENSP00000347449:A287V;ENSP00000392859:A305V;ENSP00000382369:A287V;ENSP00000334409:A348V;ENSP00000405743:A259V	ENSP00000334409:A348V	A	+	2	0	GMPR2	23777637	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.663000	0.83820	2.882000	0.98803	0.655000	0.94253	GCC		0.473	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	
ADCY4	196883	broad.mit.edu	37	14	24787668	24787668	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:24787668T>C	ENST00000310677.4	-	26	3301	c.3188A>G	c.(3187-3189)aAc>aGc	p.N1063S	ADCY4_ENST00000554068.2_Missense_Mutation_p.N1063S|ADCY4_ENST00000418030.2_Missense_Mutation_p.N1063S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1063					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.N1063S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAAGTCTGTGTTCAGGAAGTA	0.552																																					p.N1063S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3188G	14						.						150.0	136.0	141.0					14																	24787668		2203	4300	6503	23857508	SO:0001583	missense	196883	exon26			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3188A>G	14.37:g.24787668T>C	ENSP00000312126:p.Asn1063Ser		23857508	NM_001198592	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	T	9.912	1.209791	0.22289	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.80994	-1.44;-1.44;-1.44	5.52	4.41	0.53225	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.278980	0.25894	N	0.027602	T	0.61590	0.2359	N	0.16037	0.36	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.55528	-0.8127	10	0.11485	T	0.65	.	9.4104	0.38489	0.0:0.0:0.3265:0.6735	.	1063	Q8NFM4	ADCY4_HUMAN	S	1063	ENSP00000312126:N1063S;ENSP00000452250:N1063S;ENSP00000393177:N1063S	ENSP00000312126:N1063S	N	-	2	0	ADCY4	23857508	0.888000	0.30383	1.000000	0.80357	0.991000	0.79684	0.883000	0.28200	2.075000	0.62263	0.533000	0.62120	AAC		0.552	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
NFATC4	4776	broad.mit.edu	37	14	24844891	24844891	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:24844891G>A	ENST00000250373.4	+	7	2040	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E	NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000422617.3_Silent_p.E621E|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000555590.1_Silent_p.E646E|NFATC4_ENST00000554661.1_Silent_p.E563E|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000553469.1_Silent_p.E665E|NFATC4_ENST00000539237.2_Silent_p.E665E|NFATC4_ENST00000556279.1_Silent_p.E665E|NFATC4_ENST00000413692.2_Silent_p.E696E|NFATC4_ENST00000556169.1_Silent_p.E621E|NFATC4_ENST00000554473.1_Silent_p.E168E|NFATC4_ENST00000556759.1_Silent_p.E168E|NFATC4_ENST00000554050.1_Silent_p.E633E|NFATC4_ENST00000555167.1_Silent_p.E168E|NFATC4_ENST00000553708.1_Silent_p.E633E|NFATC4_ENST00000554966.1_Silent_p.E646E|NFATC4_ENST00000424781.2_Silent_p.E646E|NFATC4_ENST00000554591.1_Silent_p.E696E|NFATC4_ENST00000557451.1_Silent_p.E563E|NFATC4_ENST00000555453.1_Silent_p.E621E|NFATC4_ENST00000554344.1_Silent_p.E563E|NFATC4_ENST00000553879.1_Silent_p.E563E	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	633	IPT/TIG.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.E633E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GGGAGGAGGAGGCCACAGTGA	0.622																																					p.E696E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2088A	14						.						52.0	36.0	42.0					14																	24844891		2192	4286	6478	23914731	SO:0001819	synonymous_variant	4776	exon8			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1899G>A	14.37:g.24844891G>A			23914731	NM_001136022	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	CCDS9629.1																																																																																				0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554	
PRKD1	5587	broad.mit.edu	37	14	30046660	30046660	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:30046660G>T	ENST00000331968.5	-	18	2752	c.2523C>A	c.(2521-2523)gaC>gaA	p.D841E	PRKD1_ENST00000415220.2_Missense_Mutation_p.D849E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	841					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.D841E(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)		AGGTCTGATAGTCCTGAAGAA	0.423																																					p.D841E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2523A	14						.						76.0	72.0	73.0					14																	30046660		2203	4300	6503	29116411	SO:0001583	missense	5587	exon18				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.2523C>A	14.37:g.30046660G>T	ENSP00000333568:p.Asp841Glu		29116411	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341692	0.24339	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.82433	-1.61;-1.61	6.17	1.88	0.25563	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	L	0.46157	1.445	0.58432	D	0.99999	B	0.15473	0.013	B	0.17979	0.02	T	0.67436	-0.5671	10	0.33940	T	0.23	-32.4131	9.5008	0.39017	0.4388:0.0:0.5612:0.0	.	841	Q15139	KPCD1_HUMAN	E	841;849	ENSP00000333568:D841E;ENSP00000390535:D849E	ENSP00000333568:D841E	D	-	3	2	PRKD1	29116411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.570000	0.45981	0.725000	0.32318	0.655000	0.94253	GAC		0.423	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
HECTD1	25831	broad.mit.edu	37	14	31597902	31597902	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:31597902T>G	ENST00000399332.1	-	25	5163	c.4675A>C	c.(4675-4677)Aat>Cat	p.N1559H	HECTD1_ENST00000553700.1_Missense_Mutation_p.N1559H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1559	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.N1559H(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCGTGGCATTAGTCCGTGCT	0.458																																					p.N1559H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4675C	14						.						160.0	146.0	151.0					14																	31597902		2040	4197	6237	30667653	SO:0001583	missense	25831	exon25			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4675A>C	14.37:g.31597902T>G	ENSP00000382269:p.Asn1559His		30667653	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.517944	0.44763	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.42900	0.96;0.96;2.99	6.16	6.16	0.99307	.	0.000000	0.85682	U	0.000000	T	0.51415	0.1673	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.75484	0.986;0.986	T	0.54990	-0.8210	10	0.56958	D	0.05	-17.4049	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1559;1559	D3DS86;Q9ULT8	.;HECD1_HUMAN	H	1559;1561;1559;986	ENSP00000450697:N1559H;ENSP00000382269:N1559H;ENSP00000451860:N986H	ENSP00000261312:N1561H	N	-	1	0	HECTD1	30667653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	AAT		0.458	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
AKAP6	9472	broad.mit.edu	37	14	33292049	33292049	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:33292049C>T	ENST00000280979.4	+	13	5200	c.5030C>T	c.(5029-5031)gCa>gTa	p.A1677V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1677	Ser-rich.				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.A1677V(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)		TTGGACATAGCATCTTCTATC	0.428																																					p.A1677V	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5030T	14						.						84.0	81.0	82.0					14																	33292049		2203	4300	6503	32361800	SO:0001583	missense	9472	exon13			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.5030C>T	14.37:g.33292049C>T	ENSP00000280979:p.Ala1677Val		32361800	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569734	0.65765	.	.	ENSG00000151320	ENST00000280979	T	0.09255	3.0	5.89	5.89	0.94794	.	0.053759	0.64402	D	0.000001	T	0.36082	0.0954	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.01834	-1.1264	10	0.87932	D	0	-14.3321	20.2488	0.98402	0.0:1.0:0.0:0.0	.	1677	Q13023	AKAP6_HUMAN	V	1677	ENSP00000280979:A1677V	ENSP00000280979:A1677V	A	+	2	0	AKAP6	32361800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.122000	0.64697	2.796000	0.96246	0.585000	0.79938	GCA		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
RALGAPA1	253959	broad.mit.edu	37	14	36217850	36217850	+	Missense_Mutation	SNP	G	G	A	rs368011492		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:36217850G>A	ENST00000389698.3	-	10	1582	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R398C|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R398C|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R398C|RALGAPA1_ENST00000554704.1_5'UTR	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	398					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.R398C(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						AAAACTCTGCGAACTATTTCA	0.368																																					p.R398C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1192T	14						.						29.0	29.0	29.0					14																	36217850		2201	4292	6493	35287601	SO:0001583	missense	253959	exon10			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.1192C>T	14.37:g.36217850G>A	ENSP00000374348:p.Arg398Cys		35287601	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332062	0.81801	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	L	0.59436	1.845	0.80722	D	1	D;D;B;D;D	0.89917	1.0;1.0;0.061;1.0;1.0	D;D;B;D;D	0.91635	0.999;0.997;0.063;0.995;0.965	D	0.87137	0.2200	10	0.72032	D	0.01	-5.7891	20.1162	0.97934	0.0:0.0:1.0:0.0	.	398;398;398;398;398	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	C	398	ENSP00000374348:R398C;ENSP00000302647:R398C;ENSP00000258840:R398C;ENSP00000371803:R398C;ENSP00000451877:R398C	ENSP00000258840:R398C	R	-	1	0	RALGAPA1	35287601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.348000	0.52209	2.756000	0.94617	0.655000	0.94253	CGC		0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
TRAPPC6B	122553	broad.mit.edu	37	14	39620985	39620985	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:39620985C>A	ENST00000330149.5	-	5	636	c.410G>T	c.(409-411)aGt>aTt	p.S137I	TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.S109I|TRAPPC6B_ENST00000557764.1_5'UTR	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	137					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.S137I(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TGTTACAATACTTTTTATTCC	0.299																																					p.S109I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G326T	14						.						102.0	104.0	103.0					14																	39620985		2202	4297	6499	38690736	SO:0001583	missense	122553	exon4			AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.410G>T	14.37:g.39620985C>A	ENSP00000330289:p.Ser137Ile		38690736	NM_177452	B3KPS2|Q5JPD6|Q86U35|Q86X35	Missense_Mutation	SNP	ENST00000330149.5	37	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254542	0.95336	.	.	ENSG00000182400	ENST00000330149;ENST00000347691	T;T	0.46451	0.87;0.87	5.96	5.96	0.96718	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.75020	0.97;0.985;0.951	T	0.77125	-0.2703	10	0.72032	D	0.01	-13.5832	20.422	0.99049	0.0:1.0:0.0:0.0	.	75;109;137	B4DFZ8;Q86SZ2-2;Q86SZ2	.;.;TPC6B_HUMAN	I	137;109	ENSP00000330289:S137I;ENSP00000335171:S109I	ENSP00000330289:S137I	S	-	2	0	TRAPPC6B	38690736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.279000	0.78599	2.832000	0.97577	0.655000	0.94253	AGT		0.299	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452	
FAM179B	23116	broad.mit.edu	37	14	45432729	45432729	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:45432729A>G	ENST00000361577.3	+	1	1319	c.1105A>G	c.(1105-1107)Acc>Gcc	p.T369A	FAM179B_ENST00000361462.2_Missense_Mutation_p.T369A|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.T369A|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	369								p.T369A(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TAAGAACCGGACCCAGGCCGT	0.418																																					p.T369A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1105G	14						.						75.0	83.0	80.0					14																	45432729		2203	4300	6503	44502479	SO:0001583	missense	23116	exon1			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1105A>G	14.37:g.45432729A>G	ENSP00000355045:p.Thr369Ala		44502479	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	9.827	1.187338	0.21870	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.53640	0.61;0.61;0.61	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.079290	0.48767	D	0.000166	T	0.41511	0.1162	N	0.12182	0.205	0.28512	N	0.913476	B;D;B;B	0.61697	0.068;0.99;0.083;0.068	B;P;B;B	0.58928	0.06;0.848;0.093;0.06	T	0.24440	-1.0160	10	0.37606	T	0.19	-14.7609	8.2904	0.31954	0.9065:0.0:0.0935:0.0	.	369;369;369;369	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	A	369	ENSP00000355045:T369A;ENSP00000354917:T369A;ENSP00000371668:T369A	ENSP00000354917:T369A	T	+	1	0	FAM179B	44502479	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	4.414000	0.59802	1.917000	0.55516	0.454000	0.30748	ACC		0.418	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
MDGA2	161357	broad.mit.edu	37	14	47389341	47389341	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:47389341G>T	ENST00000399232.2	-	10	2269	c.1905C>A	c.(1903-1905)ttC>ttA	p.F635L	MDGA2_ENST00000426342.1_Missense_Mutation_p.F406L|MDGA2_ENST00000439988.3_Missense_Mutation_p.F704L|MDGA2_ENST00000357362.3_Missense_Mutation_p.F406L	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	635					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.F406L(1)|p.F704L(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						TATCATAATAGAATTCTGGAG	0.393																																					p.F406L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1218A	14						.						138.0	131.0	133.0					14																	47389341		1876	4108	5984	46459091	SO:0001583	missense	161357	exon10			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.1905C>A	14.37:g.47389341G>T	ENSP00000382178:p.Phe635Leu		46459091	NM_182830	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	15.47	2.843996	0.51164	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.63913	0.08;0.28;-0.07;0.28	5.39	2.58	0.30949	.	0.000000	0.53938	U	0.000043	T	0.67524	0.2902	M	0.65498	2.005	0.80722	D	1	P;P	0.38473	0.633;0.499	P;B	0.50405	0.64;0.358	T	0.62859	-0.6765	10	0.39692	T	0.17	.	9.0553	0.36401	0.244:0.0:0.756:0.0	.	406;635	F6W3S7;Q7Z553	.;MDGA2_HUMAN	L	635;406;704;406	ENSP00000400011:F635L;ENSP00000405456:F406L;ENSP00000382178:F704L;ENSP00000349925:F406L	ENSP00000349925:F406L	F	-	3	2	MDGA2	46459091	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.243000	0.32767	0.350000	0.24002	0.591000	0.81541	TTC		0.393	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
DNAAF2	55172	broad.mit.edu	37	14	50100069	50100069	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:50100069T>G	ENST00000298292.8	-	1	1879	c.1799A>C	c.(1798-1800)aAa>aCa	p.K600T	DNAAF2_ENST00000406043.3_Missense_Mutation_p.K600T	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	600					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)		p.K91T(1)		kidney(1)|lung(4)	5						CTCTGGAGATTTTGCCAGTTC	0.378																																					p.K600T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1799C	14						.						97.0	93.0	94.0					14																	50100069		2203	4300	6503	49169819	SO:0001583	missense	55172	exon1			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1799A>C	14.37:g.50100069T>G	ENSP00000298292:p.Lys600Thr		49169819	NM_001083908	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160679	0.78226	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.15256	2.44;2.44	5.24	5.24	0.73138	.	0.077361	0.49916	D	0.000122	T	0.40398	0.1115	M	0.65498	2.005	0.41080	D	0.985518	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.30966	-0.9960	10	0.87932	D	0	.	14.0413	0.64676	0.0:0.0:0.0:1.0	.	600;600	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	T	600	ENSP00000298292:K600T;ENSP00000384862:K600T	ENSP00000298292:K600T	K	-	2	0	DNAAF2	49169819	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.799000	0.62517	2.111000	0.64477	0.454000	0.30748	AAA		0.378	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1		
CDKL1	8814	broad.mit.edu	37	14	50799081	50799081	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:50799081T>G	ENST00000395834.1	-	8	895	c.868A>C	c.(868-870)Aac>Cac	p.N290H	CDKL1_ENST00000216378.2_3'UTR|ATP5S_ENST00000358473.1_Intron	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	289					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.N290H(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TCTCTGATGTTTTCAAAATAT	0.413																																					p.N290H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A868C	14						.						201.0	193.0	196.0					14																	50799081		2203	4300	6503	49868831	SO:0001583	missense	8814	exon8			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	ENST00000395834.1:c.868A>C	14.37:g.50799081T>G	ENSP00000379176:p.Asn290His		49868831	NM_004196	Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000395834.1	37	CCDS9699.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.46|16.46	3.129887|3.129887	0.56721|0.56721	.|.	.|.	ENSG00000100490|ENSG00000100490	ENST00000534267|ENST00000395834	.|T	.|0.46063	.|0.88	5.73|5.73	3.38|3.38	0.38709|0.38709	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.22936|0.22936	0.0554|0.0554	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.10450	.|0.005	T|T	0.03673|0.03673	-1.1014|-1.1014	5|9	.|0.52906	.|T	.|0.07	.|.	9.0757|9.0757	0.36519|0.36519	0.0:0.2115:0.0:0.7885|0.0:0.2115:0.0:0.7885	.|.	.|289	.|Q00532	.|CDKL1_HUMAN	T|H	103|290	.|ENSP00000379176:N290H	.|ENSP00000379176:N290H	K|N	-|-	2|1	0|0	CDKL1|CDKL1	49868831|49868831	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.719000|0.719000	0.41307|0.41307	2.829000|2.829000	0.48128|0.48128	0.531000|0.531000	0.28639|0.28639	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.413	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2		
TRIM9	114088	broad.mit.edu	37	14	51446149	51446149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:51446149C>A	ENST00000298355.3	-	9	3147	c.2026G>T	c.(2026-2028)Gag>Tag	p.E676*	TRIM9_ENST00000338969.5_Nonsense_Mutation_p.E757*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	676	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E676*(1)|p.E757*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AAGAGGCCCTCCACGTTATCA	0.488																																					p.E676X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2026T	14						.						146.0	153.0	151.0					14																	51446149		2203	4300	6503	50515899	SO:0001587	stop_gained	114088	exon9			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.2026G>T	14.37:g.51446149C>A	ENSP00000298355:p.Glu676*		50515899	NM_015163	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Nonsense_Mutation	SNP	ENST00000298355.3	37	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	C	48	14.818198	0.99811	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	.	.	.	5.89	5.89	0.94794	.	0.047585	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.2409	0.93883	0.0:1.0:0.0:0.0	.	.	.	.	X	676;757	.	ENSP00000298355:E676X	E	-	1	0	TRIM9	50515899	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.999000	0.70665	2.788000	0.95919	0.557000	0.71058	GAG		0.488	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163	
FERMT2	10979	broad.mit.edu	37	14	53325157	53325157	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:53325157T>G	ENST00000395631.2	-	15	2197	c.1981A>C	c.(1981-1983)Aaa>Caa	p.K661Q	FERMT2_ENST00000343279.4_Missense_Mutation_p.K668Q|FERMT2_ENST00000553373.1_Missense_Mutation_p.K668Q|FERMT2_ENST00000341590.3_Missense_Mutation_p.K661Q|FERMT2_ENST00000557255.1_5'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2	661	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.K661Q(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTTTGGTCTTTTGCACGTGTT	0.388																																					p.K668Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2002C	14						.						215.0	183.0	194.0					14																	53325157		2203	4300	6503	52394907	SO:0001583	missense	10979	exon16			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1981A>C	14.37:g.53325157T>G	ENSP00000378993:p.Lys661Gln		52394907	NM_001134999	B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763439	0.69763	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	6.16	5.0	0.66597	.	0.087837	0.85682	D	0.000000	T	0.64136	0.2571	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69194	-0.5209	10	0.59425	D	0.04	.	12.8356	0.57771	0.1225:0.0:0.0:0.8775	.	661;668	Q96AC1;B5TJY2	FERM2_HUMAN;.	Q	661;661;621;668;668	ENSP00000378993:K661Q;ENSP00000340391:K661Q;ENSP00000450741:K621Q;ENSP00000342858:K668Q;ENSP00000451084:K668Q	ENSP00000340391:K661Q	K	-	1	0	FERMT2	52394907	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.018000	0.88722	1.124000	0.41980	0.528000	0.53228	AAA		0.388	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832	
WDHD1	11169	broad.mit.edu	37	14	55477174	55477174	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:55477174C>A	ENST00000360586.3	-	4	259	c.194G>T	c.(193-195)gGa>gTa	p.G65V	WDHD1_ENST00000420358.2_5'UTR|WDHD1_ENST00000421192.1_5'UTR	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	65					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.G65V(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GACCAGTTTTCCACTCTAAAA	0.348																																					p.G65V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194T	14						.						45.0	46.0	46.0					14																	55477174		2203	4300	6503	54546924	SO:0001583	missense	11169	exon4			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.194G>T	14.37:g.55477174C>A	ENSP00000353793:p.Gly65Val		54546924	NM_007086	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577194	0.65878	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	T;D	0.81499	4.98;-1.5	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049628	0.85682	D	0.000000	D	0.84151	0.5409	M	0.73598	2.24	0.80722	D	1	P	0.49961	0.93	P	0.50896	0.653	D	0.85108	0.0961	10	0.51188	T	0.08	.	12.3984	0.55399	0.0:0.923:0.0:0.077	.	65	O75717	WDHD1_HUMAN	V	65	ENSP00000353793:G65V;ENSP00000413435:G65V	ENSP00000353793:G65V	G	-	2	0	WDHD1	54546924	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	5.509000	0.67012	2.483000	0.83821	0.467000	0.42956	GGA		0.348	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
DLGAP5	9787	broad.mit.edu	37	14	55625286	55625286	+	Silent	SNP	G	G	A	rs139031197	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:55625286G>A	ENST00000247191.2	-	14	2043	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	DLGAP5_ENST00000395425.2_Silent_p.F609F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	609					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.F609F(2)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATCCAGCATCGAACACTATTT	0.333																																					p.F609F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1827T	14						.	G	,	0,4404		0,0,2202	100.0	95.0	97.0		1827,1827	0.0	1.0	14	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	DLGAP5	NM_001146015.1,NM_014750.4	,	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	,	609/843,609/847	55625286	3,13001	2202	4300	6502	54695039	SO:0001819	synonymous_variant	9787	exon14			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1827C>T	14.37:g.55625286G>A			54695039	NM_001146015	A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	CCDS9723.1																																																																																				0.333	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	
TBPL2	387332	broad.mit.edu	37	14	55890952	55890952	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:55890952G>A	ENST00000247219.5	-	6	1046	c.976C>T	c.(976-978)Cct>Tct	p.P326S		NM_199047.2	NP_950248.1			TATA box binding protein like 2									p.P326S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						ATAAGACCAGGAAACAGTTCA	0.343																																					p.P326S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C976T	14						.						104.0	96.0	99.0					14																	55890952		2203	4297	6500	54960705	SO:0001583	missense	387332	exon6			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.976C>T	14.37:g.55890952G>A	ENSP00000247219:p.Pro326Ser		54960705	NM_199047		Missense_Mutation	SNP	ENST00000247219.5	37	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702614	0.88924	.	.	ENSG00000182521	ENST00000247219	T	0.61742	0.08	5.29	5.29	0.74685	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.92649	3.33	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	D	0.86031	0.1513	10	0.87932	D	0	-15.5842	17.9105	0.88932	0.0:0.0:1.0:0.0	.	326	Q6SJ96	TBPL2_HUMAN	S	326	ENSP00000247219:P326S	ENSP00000247219:P326S	P	-	1	0	TBPL2	54960705	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.763000	0.85283	2.466000	0.83321	0.557000	0.71058	CCT		0.343	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047	
OTX2	5015	broad.mit.edu	37	14	57269042	57269042	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:57269042C>T	ENST00000555006.1	-	4	689	c.281G>A	c.(280-282)cGc>cAc	p.R94H	OTX2_ENST00000408990.3_Missense_Mutation_p.R94H|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.R102H			P32243	OTX2_HUMAN	orthodenticle homeobox 2	94					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R102H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CTGTTGTTGGCGGCACTTAGC	0.438																																					p.R102H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305A	14						.						112.0	117.0	115.0					14																	57269042		2203	4300	6503	56338795	SO:0001583	missense	5015	exon5			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.281G>A	14.37:g.57269042C>T	ENSP00000452336:p.Arg94His		56338795	NM_021728	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218488	0.58560	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47	5.78	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.46442	D	0.000289	D	0.99296	0.9754	H	0.99897	4.91	0.80722	D	1	D;P	0.89917	1.0;0.646	D;B	0.97110	1.0;0.258	D	0.97965	1.0340	10	0.87932	D	0	.	13.9378	0.64036	0.0:0.9272:0.0:0.0728	.	102;94	F1T0D1;P32243	.;OTX2_HUMAN	H	102;94;94;102;94	ENSP00000343819:R102H;ENSP00000386185:R94H;ENSP00000452336:R94H;ENSP00000451357:R102H;ENSP00000451272:R94H	ENSP00000343819:R102H	R	-	2	0	OTX2	56338795	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.798000	0.85924	1.455000	0.47813	0.455000	0.32223	CGC		0.438	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.	
OTX2	5015	broad.mit.edu	37	14	57270953	57270953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:57270953G>A	ENST00000555006.1	-	3	610	c.202C>T	c.(202-204)Cga>Tga	p.R68*	OTX2_ENST00000408990.3_Nonsense_Mutation_p.R68*|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000339475.5_Nonsense_Mutation_p.R76*			P32243	OTX2_HUMAN	orthodenticle homeobox 2	68					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R76*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCTCCTCTCGCATGAAGATG	0.597																																					p.R76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C226T	14						.						92.0	75.0	81.0					14																	57270953		2203	4300	6503	56340706	SO:0001587	stop_gained	5015	exon4			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.202C>T	14.37:g.57270953G>A	ENSP00000452336:p.Arg68*		56340706	NM_021728	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Nonsense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	38	6.960437	0.97964	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	.	.	.	5.73	3.84	0.44239	.	0.000000	0.40064	N	0.001188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0722	0.53624	0.0:0.0:0.5502:0.4498	.	.	.	.	X	76;68;68;76;68	.	ENSP00000343819:R76X	R	-	1	2	OTX2	56340706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.649000	0.61433	0.711000	0.32018	0.655000	0.94253	CGA		0.597	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.	
AP5M1	55745	broad.mit.edu	37	14	57741091	57741091	+	Silent	SNP	C	C	T	rs148346858		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:57741091C>T	ENST00000261558.3	+	2	610	c.204C>T	c.(202-204)ttC>ttT	p.F68F	AP5M1_ENST00000431972.2_Silent_p.F82F	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	68					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)		p.F68F(1)									ATAAAGACTTCGTTGAGAGTC	0.413																																					p.F68F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204T	14						.	C		0,4406		0,0,2203	107.0	98.0	101.0		204	-4.4	0.0	14	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MUDENG	NM_018229.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		68/491	57741091	1,13005	2203	4300	6503	56810844	SO:0001819	synonymous_variant	55745	exon2			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.204C>T	14.37:g.57741091C>T			56810844	NM_018229	O95354|Q6ZMD7|Q96DX3|Q9NVC5	Silent	SNP	ENST00000261558.3	37	CCDS9729.1																																																																																				0.413	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229	
PSMA3	5684	broad.mit.edu	37	14	58718946	58718946	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:58718946C>T	ENST00000216455.4	+	3	304	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	PSMA3_ENST00000557508.1_5'UTR|PSMA3_ENST00000412908.2_Missense_Mutation_p.R72W	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	72					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)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.R72W(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						TAATGTTGATCGGCATGTTGG	0.348																																					p.R72W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C214T	14						.						105.0	101.0	102.0					14																	58718946		2203	4300	6503	57788699	SO:0001583	missense	5684	exon3				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.214C>T	14.37:g.58718946C>T	ENSP00000216455:p.Arg72Trp		57788699	NM_002788	B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	ENST00000216455.4	37	CCDS9731.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259277	0.59321	.	.	ENSG00000100567	ENST00000216455;ENST00000412908	T;T	0.23348	1.91;1.91	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	M	0.91038	3.17	0.80722	D	1	P;P	0.38504	0.581;0.634	B;B	0.29598	0.063;0.104	T	0.55698	-0.8100	10	0.72032	D	0.01	-15.0362	20.0545	0.97645	0.0:1.0:0.0:0.0	.	72;72	P25788-2;P25788	.;PSA3_HUMAN	W	72	ENSP00000216455:R72W;ENSP00000390491:R72W	ENSP00000216455:R72W	R	+	1	2	PSMA3	57788699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.692000	0.61746	2.748000	0.94277	0.655000	0.94253	CGG		0.348	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788	
ARID4A	5926	broad.mit.edu	37	14	58785494	58785494	+	Silent	SNP	G	G	A	rs373980107		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:58785494G>A	ENST00000355431.3	+	7	793	c.420G>A	c.(418-420)acG>acA	p.T140T	ARID4A_ENST00000395168.3_Silent_p.T140T|ARID4A_ENST00000431317.2_Silent_p.T140T|ARID4A_ENST00000348476.3_Silent_p.T140T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	140					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.T140T(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						CAAAGAAGACGAACAGAGGAA	0.313																																					p.T140T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G420A	14						.						73.0	75.0	74.0					14																	58785494		2203	4300	6503	57855247	SO:0001819	synonymous_variant	5926	exon7			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.420G>A	14.37:g.58785494G>A			57855247	NM_023000	Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	CCDS9732.1																																																																																				0.313	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
KIAA0586	9786	broad.mit.edu	37	14	58924670	58924670	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:58924670C>T	ENST00000556134.1	+	12	1785	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Missense_Mutation_p.S475L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S572L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S519L	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	504	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.S519L(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCATGTATTCGCTTATCAAT	0.368																																					p.S519L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1556T	14						.						54.0	52.0	53.0					14																	58924670		1848	4096	5944	57994423	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.1511C>T	14.37:g.58924670C>T	ENSP00000452351:p.Ser504Leu		57994423	NM_014749	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614854	0.87359	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.99	5.99	0.97316	.	0.107190	0.42172	D	0.000749	T	0.71937	0.3399	M	0.63843	1.955	0.33202	D	0.552243	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;P;D;D;D	0.69824	0.954;0.954;0.886;0.966;0.966;0.966	T	0.76375	-0.2982	10	0.66056	D	0.02	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	379;379;572;519;504;475	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	L	572;504;475;519;379	ENSP00000346359:S572L;ENSP00000452351:S504L;ENSP00000399427:S475L;ENSP00000261244:S519L	ENSP00000261244:S519L	S	+	2	0	KIAA0586	57994423	0.924000	0.31332	0.977000	0.42913	0.731000	0.41821	4.034000	0.57289	2.840000	0.97914	0.655000	0.94253	TCG		0.368	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
DACT1	51339	broad.mit.edu	37	14	59112099	59112099	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:59112099A>C	ENST00000335867.4	+	4	782	c.758A>C	c.(757-759)aAg>aCg	p.K253T	DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_5'UTR|DACT1_ENST00000395153.3_Missense_Mutation_p.K216T			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	253					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.K253T(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGAATCCCAAGTACCAGTGT	0.483																																					p.K216T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A647C	14						.						166.0	152.0	157.0					14																	59112099		2203	4300	6503	58181852	SO:0001583	missense	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.758A>C	14.37:g.59112099A>C	ENSP00000337439:p.Lys253Thr		58181852	NM_001079520	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295245	0.81025	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.60797	0.16;0.16	5.71	5.71	0.89125	.	0.167003	0.51477	D	0.000082	T	0.75539	0.3863	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	0.78507	-0.2177	10	0.87932	D	0	-26.7201	15.979	0.80091	1.0:0.0:0.0:0.0	.	216;253	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	T	216;253	ENSP00000378582:K216T;ENSP00000337439:K253T	ENSP00000337439:K253T	K	+	2	0	DACT1	58181852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.182000	0.69389	0.460000	0.39030	AAG		0.483	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
DACT1	51339	broad.mit.edu	37	14	59112352	59112352	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:59112352A>C	ENST00000335867.4	+	4	1035	c.1011A>C	c.(1009-1011)aaA>aaC	p.K337N	DACT1_ENST00000541264.2_Missense_Mutation_p.K56N|DACT1_ENST00000556859.1_Missense_Mutation_p.K56N|DACT1_ENST00000395153.3_Missense_Mutation_p.K300N			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	337					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.K337N(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCAGCAAGAAAATGGATGGCT	0.507																																					p.K300N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A900C	14						.						81.0	62.0	69.0					14																	59112352		2203	4300	6503	58182105	SO:0001583	missense	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.1011A>C	14.37:g.59112352A>C	ENSP00000337439:p.Lys337Asn		58182105	NM_001079520	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342660	0.61073	.	.	ENSG00000165617	ENST00000556859;ENST00000421793;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.61	0.665	0.17896	.	0.250937	0.42172	D	0.000744	T	0.59059	0.2166	M	0.62723	1.935	0.40011	D	0.97528	D;D	0.54601	0.967;0.967	P;P	0.56127	0.777;0.792	T	0.60880	-0.7175	10	0.72032	D	0.01	-10.9381	9.7463	0.40448	0.5978:0.0:0.4022:0.0	.	300;337	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	N	56;56;56;300;337;56	ENSP00000451598:K56N;ENSP00000404297:K56N;ENSP00000378581:K56N;ENSP00000378582:K300N;ENSP00000337439:K337N;ENSP00000442850:K56N	ENSP00000337439:K337N	K	+	3	2	DACT1	58182105	0.964000	0.33143	0.999000	0.59377	0.961000	0.63080	0.218000	0.17622	0.091000	0.17302	0.460000	0.39030	AAA		0.507	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
RTN1	6252	broad.mit.edu	37	14	60212466	60212466	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:60212466G>A	ENST00000267484.5	-	2	1310	c.975C>T	c.(973-975)gaC>gaT	p.D325D		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	325					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.D325D(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGGGCTGTCGTCTTCAGGCT	0.483																																					p.D325D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C975T	14						.						113.0	115.0	115.0					14																	60212466		2203	4300	6503	59282219	SO:0001819	synonymous_variant	6252	exon2			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.975C>T	14.37:g.60212466G>A			59282219	NM_021136	Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	CCDS9740.1																																																																																				0.483	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
RTN1	6252	broad.mit.edu	37	14	60213048	60213048	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:60213048A>C	ENST00000267484.5	-	2	728	c.393T>G	c.(391-393)aaT>aaG	p.N131K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	131					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.N131K(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGACGTGGCCATTTTCCTTCT	0.483																																					p.N131K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T393G	14						.						54.0	48.0	50.0					14																	60213048		2203	4300	6503	59282801	SO:0001583	missense	6252	exon2			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.393T>G	14.37:g.60213048A>C	ENSP00000267484:p.Asn131Lys		59282801	NM_021136	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002359	0.35320	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.23147	1.92	5.7	2.05	0.26809	.	0.322761	0.36303	N	0.002662	T	0.20981	0.0505	M	0.65975	2.015	0.20489	N	0.999896	B	0.31581	0.329	B	0.25987	0.065	T	0.15607	-1.0431	10	0.20519	T	0.43	.	7.0883	0.25270	0.5152:0.0:0.4848:0.0	.	131	Q16799	RTN1_HUMAN	K	131;57	ENSP00000267484:N131K	ENSP00000267484:N131K	N	-	3	2	RTN1	59282801	0.866000	0.29940	0.994000	0.49952	0.750000	0.42670	-0.075000	0.11431	0.440000	0.26502	0.455000	0.32223	AAT		0.483	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
SIX4	51804	broad.mit.edu	37	14	61180304	61180304	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:61180304C>T	ENST00000216513.4	-	3	2226	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	723					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E723K(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AAGAAATTCTCTTTCATGTTA	0.423																																					p.E723K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2167A	14						.						109.0	105.0	106.0					14																	61180304		2203	4300	6503	60250057	SO:0001583	missense	51804	exon3			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2167G>A	14.37:g.61180304C>T	ENSP00000216513:p.Glu723Lys		60250057	NM_017420	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909048	0.72868	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.94000	-3.33;0.32	5.63	5.63	0.86233	.	0.125415	0.36066	N	0.002808	D	0.92632	0.7659	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.54759	0.76	D	0.93619	0.6946	10	0.87932	D	0	.	20.0396	0.97574	0.0:1.0:0.0:0.0	.	723	Q9UIU6	SIX4_HUMAN	K	723;396	ENSP00000216513:E723K;ENSP00000451537:E396K	ENSP00000216513:E723K	E	-	1	0	SIX4	60250057	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.312000	0.59154	2.814000	0.96858	0.563000	0.77884	GAG		0.423	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
SLC38A6	145389	broad.mit.edu	37	14	61497195	61497195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:61497195G>A	ENST00000267488.4	+	6	552	c.436G>A	c.(436-438)Gag>Aag	p.E146K	SLC38A6_ENST00000456840.2_Missense_Mutation_p.E123K|SLC38A6_ENST00000354886.2_Missense_Mutation_p.E146K	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	146					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.E146K(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)		TATTAAAACAGAGCTTCCTGC	0.284																																					p.E146K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G436A	14						.						67.0	69.0	68.0					14																	61497195		2202	4300	6502	60566948	SO:0001583	missense	145389	exon6			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	ENST00000267488.4:c.436G>A	14.37:g.61497195G>A	ENSP00000267488:p.Glu146Lys		60566948	NM_153811	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061183	0.93846	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105	T;T;T;T;T	0.02301	4.35;4.35;4.35;4.35;4.35	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.87682	2.9	0.58432	D	0.99999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.987;0.986;1.0	T	0.00248	-1.1880	10	0.87932	D	0	-1.5605	19.6604	0.95864	0.0:0.0:1.0:0.0	.	123;146;146	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	K	146;146;141;123;92	ENSP00000346959:E146K;ENSP00000267488:E146K;ENSP00000395851:E141K;ENSP00000413863:E123K;ENSP00000451244:E92K	ENSP00000267488:E146K	E	+	1	0	SLC38A6	60566948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.553000	0.82203	2.721000	0.93114	0.655000	0.94253	GAG		0.284	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1		
PRKCH	5583	broad.mit.edu	37	14	62014486	62014486	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:62014486G>A	ENST00000332981.5	+	13	2172	c.1787G>A	c.(1786-1788)cGc>cAc	p.R596H	RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.A101T|PRKCH_ENST00000555082.1_Missense_Mutation_p.R435H|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.1_ENST00000556543.1_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.R596H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCCACCATGCGCTTGGGCAGC	0.512																																					p.R596H	Melanoma(135;863 1779 8064 14443 26348)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1787A	14						.						265.0	267.0	266.0					14																	62014486		2203	4300	6503	61084239	SO:0001583	missense	5583	exon13			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1787G>A	14.37:g.62014486G>A	ENSP00000329127:p.Arg596His		61084239	NM_006255	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	CCDS9752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.225337|5.225337	0.95173|0.95173	.|.	.|.	ENSG00000258989|ENSG00000027075	ENST00000556347|ENST00000332981;ENST00000555082	.|T;T	.|0.71934	.|-0.61;-0.61	5.99|5.99	5.1|5.1	0.69264|0.69264	.|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	.|0.000004	D|D	0.90645|0.90645	0.7066|0.7066	H|H	0.98936|0.98936	4.375|4.375	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.94364|0.94364	0.7590|0.7590	5|10	.|0.87932	.|D	.|0	.|.	15.4334|15.4334	0.75121|0.75121	0.0664:0.0:0.9336:0.0|0.0664:0.0:0.9336:0.0	.|.	.|596	.|P24723	.|KPCL_HUMAN	T|H	101|596;435	.|ENSP00000329127:R596H;ENSP00000450981:R435H	.|ENSP00000329127:R596H	A|R	+|+	1|2	0|0	RP11-47I22.4|PRKCH	61084239|61084239	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.972000|0.972000	0.66771|0.66771	9.805000|9.805000	0.99149|0.99149	1.540000|1.540000	0.49301|0.49301	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.512	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255	
SYT16	83851	broad.mit.edu	37	14	62567220	62567220	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:62567220T>C	ENST00000430451.2	+	6	1930	c.1733T>C	c.(1732-1734)gTt>gCt	p.V578A	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	578	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)			p.V558A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGACCTTTGTTTTCCAGGTG	0.478																																					p.V578A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1733C	14						.						82.0	80.0	80.0					14																	62567220		1963	4144	6107	61636973	SO:0001583	missense	83851	exon6			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1733T>C	14.37:g.62567220T>C	ENSP00000394700:p.Val578Ala		61636973	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278314	0.80692	.	.	ENSG00000139973	ENST00000430451	T	0.69561	-0.41	5.61	5.61	0.85477	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.230692	0.37304	N	0.002144	T	0.66327	0.2778	L	0.33245	0.995	0.80722	D	1	P	0.42123	0.771	P	0.48488	0.579	T	0.68712	-0.5336	10	0.54805	T	0.06	-6.6941	15.8067	0.78520	0.0:0.0:0.0:1.0	.	578	Q17RD7	SYT16_HUMAN	A	578	ENSP00000394700:V578A	ENSP00000394700:V578A	V	+	2	0	SYT16	61636973	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	5.955000	0.70306	2.131000	0.65755	0.533000	0.62120	GTT		0.478	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
SYNE2	23224	broad.mit.edu	37	14	64520073	64520073	+	Missense_Mutation	SNP	G	G	A	rs371734893		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:64520073G>A	ENST00000344113.4	+	48	9654	c.9442G>A	c.(9442-9444)Gaa>Aaa	p.E3148K	SYNE2_ENST00000358025.3_Missense_Mutation_p.E3148K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3181K|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3148					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.E3148K(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)		CTCACCAAAAGAATTGGATGA	0.299																																					p.E3148K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9442A	14						.						48.0	47.0	47.0					14																	64520073		1810	4070	5880	63589826	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.9442G>A	14.37:g.64520073G>A	ENSP00000341781:p.Glu3148Lys		63589826	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617889	0.28801	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57595	0.75;0.75;0.39	5.39	3.38	0.38709	.	0.579854	0.15816	N	0.243258	T	0.29684	0.0741	L	0.27053	0.805	0.19300	N	0.999973	B;B	0.11235	0.002;0.004	B;B	0.15052	0.005;0.012	T	0.25710	-1.0124	10	0.06494	T	0.89	.	3.1664	0.06538	0.2541:0.0:0.4784:0.2675	.	3148;3148	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	3148;3148;3181;3181	ENSP00000350719:E3148K;ENSP00000341781:E3148K;ENSP00000452570:E3181K	ENSP00000261678:E3181K	E	+	1	0	SYNE2	63589826	0.021000	0.18746	0.933000	0.37362	0.693000	0.40251	1.482000	0.35486	1.279000	0.44446	0.462000	0.41574	GAA		0.299	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64596828	64596828	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:64596828C>T	ENST00000344113.4	+	76	14414	c.14202C>T	c.(14200-14202)ttC>ttT	p.F4734F	SYNE2_ENST00000358025.3_Silent_p.F4734F|SYNE2_ENST00000554584.1_Silent_p.F4651F|SYNE2_ENST00000555002.1_Silent_p.F1368F|SYNE2_ENST00000357395.3_Silent_p.F1119F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.F1119F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4734					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.F4734F(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)		GCAGCCCTTTCGTCACTGAGA	0.463																																					p.F4734F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14202T	14						.						100.0	87.0	91.0					14																	64596828		2203	4300	6503	63666581	SO:0001819	synonymous_variant	23224	exon76			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.14202C>T	14.37:g.64596828C>T			63666581	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.463	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
ESR2	2100	broad.mit.edu	37	14	64735613	64735613	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:64735613A>C	ENST00000341099.4	-	4	969	c.552T>G	c.(550-552)atT>atG	p.I184M	ESR2_ENST00000554572.1_Missense_Mutation_p.I184M|ESR2_ENST00000557772.1_Missense_Mutation_p.I184M|ESR2_ENST00000267525.6_Missense_Mutation_p.I184M|ESR2_ENST00000555278.1_Missense_Mutation_p.I184M|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.I184M|ESR2_ENST00000353772.3_Missense_Mutation_p.I184M|ESR2_ENST00000357782.2_Missense_Mutation_p.I184M|ESR2_ENST00000358599.5_Missense_Mutation_p.I184M|ESR2_ENST00000553796.1_Missense_Mutation_p.I184M	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	184					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)	p.I184M(1)		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)	TAGCTGGACAAATATAATCAT	0.423																																					p.I184M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T552G	14						.						108.0	113.0	111.0					14																	64735613		2203	4300	6503	63805366	SO:0001583	missense	2100	exon4			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.552T>G	14.37:g.64735613A>C	ENSP00000343925:p.Ile184Met		63805366	NM_001437	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916666	0.33815	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.45	-0.885	0.10593	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.93844	0.8031	N	0.16037	0.36	0.58432	D	0.999998	P;P;P;P;D	0.59767	0.92;0.877;0.851;0.918;0.986	P;P;P;P;P	0.62014	0.71;0.74;0.525;0.835;0.897	D	0.88729	0.3235	10	0.23302	T	0.38	.	6.0668	0.19868	0.2914:0.0:0.5426:0.166	.	184;184;184;184;184	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	M	184	ENSP00000452485:I184M;ENSP00000441792:I184M;ENSP00000450699:I184M;ENSP00000335551:I184M;ENSP00000351412:I184M;ENSP00000450488:I184M;ENSP00000452426:I184M;ENSP00000350427:I184M;ENSP00000451582:I184M;ENSP00000343925:I184M;ENSP00000267525:I184M	ENSP00000267525:I184M	I	-	3	3	ESR2	63805366	0.998000	0.40836	0.997000	0.53966	0.994000	0.84299	0.417000	0.21214	-0.160000	0.11002	0.454000	0.30748	ATT		0.423	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1		
RAB15	376267	broad.mit.edu	37	14	65417071	65417071	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:65417071C>T	ENST00000533601.2	-	5	723	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_3'UTR|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Missense_Mutation_p.G173S|RAB15_ENST00000426039.3_Missense_Mutation_p.R83Q			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	129					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.G173S(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TCCCACCTGCCGTTTCTGCTC	0.587																																					p.G173S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	14						.						306.0	266.0	280.0					14																	65417071		2203	4300	6503	64486824	SO:0001583	missense	376267	exon5			BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.386G>A	14.37:g.65417071C>T	ENSP00000434103:p.Arg129Gln		64486824	NM_198686	G5EMR7|Q86TX7|Q8IW89	Missense_Mutation	SNP	ENST00000533601.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.864815|5.864815	0.97043|0.97043	.|.	.|.	ENSG00000139998|ENSG00000139998	ENST00000267512|ENST00000533601;ENST00000426039;ENST00000554593	T|T;T;T	0.65178|0.79749	-0.14|-1.3;-1.3;-1.3	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.33253|.	N|.	0.005114|.	T|T	0.75503|0.75503	0.3858|0.3858	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.55508|.	0.777|.	T|T	0.79778|0.79778	-0.1660|-0.1660	10|7	0.09338|0.72032	T|D	0.73|0.01	.|.	18.9094|18.9094	0.92477|0.92477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173|.	P59190-2|.	.|.	S|Q	173|129;83;83	ENSP00000267512:G173S|ENSP00000434103:R129Q;ENSP00000433485:R83Q;ENSP00000452195:R83Q	ENSP00000267512:G173S|ENSP00000434103:R129Q	G|R	-|-	1|2	0|0	RAB15|RAB15	64486824|64486824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.999000|6.999000	0.76283|0.76283	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.587	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686	
MPP5	64398	broad.mit.edu	37	14	67746042	67746042	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:67746042G>A	ENST00000261681.4	+	3	816	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	MPP5_ENST00000555925.1_Missense_Mutation_p.R18Q|MPP5_ENST00000556345.1_Missense_Mutation_p.R52Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	52	Interaction with PARD6B. {ECO:0000250}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.R52Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CCAATACGTCGAAGTGCACAG	0.483																																					p.R52Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G155A	14						.						125.0	110.0	115.0					14																	67746042		2203	4300	6503	66815795	SO:0001583	missense	64398	exon3			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.155G>A	14.37:g.67746042G>A	ENSP00000261681:p.Arg52Gln		66815795	NM_022474	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308287	0.81247	.	.	ENSG00000072415	ENST00000261681;ENST00000556345;ENST00000555925;ENST00000557783	T;T	0.09350	2.99;3.06	5.66	4.75	0.60458	.	0.059871	0.64402	D	0.000002	T	0.24198	0.0586	L	0.43152	1.355	0.80722	D	1	D;D	0.69078	0.964;0.997	B;D	0.66847	0.289;0.947	T	0.00809	-1.1557	10	0.37606	T	0.19	.	15.6876	0.77424	0.0:0.0:0.8619:0.1381	.	52;52	Q8N3R9;G3V2B0	MPP5_HUMAN;.	Q	52;52;18;18	ENSP00000261681:R52Q;ENSP00000451488:R18Q	ENSP00000261681:R52Q	R	+	2	0	MPP5	66815795	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.229000	0.78088	1.334000	0.45468	0.563000	0.77884	CGA		0.483	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474	
VTI1B	10490	broad.mit.edu	37	14	68118113	68118113	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:68118113G>A	ENST00000554659.1	-	6	1029	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	230					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)	p.R230C(1)		endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CAATGGCTGCGAAAGAATTTG	0.443																																					p.R230C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C688T	14						.						69.0	70.0	69.0					14																	68118113		2203	4300	6503	67187866	SO:0001583	missense	10490	exon6			AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.688C>T	14.37:g.68118113G>A	ENSP00000450731:p.Arg230Cys		67187866	NM_006370	O43547|Q96J28	Missense_Mutation	SNP	ENST00000554659.1	37	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500378	0.64298	.	.	ENSG00000100568	ENST00000554659	.	.	.	6.17	5.29	0.74685	.	0.503297	0.24666	N	0.036582	T	0.60805	0.2297	L	0.59436	1.845	0.58432	D	0.999991	D;P	0.62365	0.991;0.804	P;B	0.50231	0.635;0.133	T	0.65071	-0.6257	9	0.87932	D	0	.	9.6117	0.39668	0.206:0.0:0.794:0.0	.	230;230	A8K6M4;Q9UEU0	.;VTI1B_HUMAN	C	230	.	ENSP00000216456:R230C	R	-	1	0	VTI1B	67187866	1.000000	0.71417	0.307000	0.25127	0.618000	0.37518	5.320000	0.65841	1.633000	0.50488	0.655000	0.94253	CGC		0.443	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2		
ZFYVE26	23503	broad.mit.edu	37	14	68251899	68251899	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:68251899G>T	ENST00000347230.4	-	19	3538	c.3400C>A	c.(3400-3402)Ctc>Atc	p.L1134I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1134I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1134					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.L1134I(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)		TTCTTCTGGAGGAGCTGAGTC	0.592																																					p.L1134I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3400A	14						.						90.0	87.0	88.0					14																	68251899		2203	4300	6503	67321652	SO:0001583	missense	23503	exon19			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.3400C>A	14.37:g.68251899G>T	ENSP00000251119:p.Leu1134Ile		67321652	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366987	0.82463	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.36520	1.43;1.25	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.71581	2.175	0.45330	D	0.998322	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.57791	-0.7750	10	0.54805	T	0.06	-12.8278	10.5295	0.44969	0.0882:0.0:0.9118:0.0	.	1134;1134	G3V2D8;Q68DK2	.;ZFY26_HUMAN	I	1134;1113;1134	ENSP00000251119:L1134I;ENSP00000450603:L1134I	ENSP00000251119:L1134I	L	-	1	0	ZFYVE26	67321652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.398000	0.66308	2.595000	0.87683	0.655000	0.94253	CTC		0.592	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
SLC10A1	6554	broad.mit.edu	37	14	70243064	70243064	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:70243064T>C	ENST00000216540.4	-	5	1118	c.985A>G	c.(985-987)Aca>Gca	p.T329A		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	329					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.T329A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	CCTGGAATTGTTTCTTCAGTT	0.478																																					p.T329A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A985G	14						.						128.0	120.0	123.0					14																	70243064		2203	4300	6503	69312817	SO:0001583	missense	6554	exon5			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.985A>G	14.37:g.70243064T>C	ENSP00000216540:p.Thr329Ala		69312817	NM_003049	B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451940	0.26074	.	.	ENSG00000100652	ENST00000216540	T	0.07327	3.2	4.36	-0.608	0.11611	.	0.909560	0.09066	N	0.853597	T	0.03739	0.0106	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46498	-0.9187	10	0.07325	T	0.83	-1.5818	3.464	0.07543	0.2153:0.4589:0.0:0.3258	.	329	Q14973	NTCP_HUMAN	A	329	ENSP00000216540:T329A	ENSP00000216540:T329A	T	-	1	0	SLC10A1	69312817	0.022000	0.18835	0.039000	0.18376	0.359000	0.29487	-0.182000	0.09726	0.024000	0.15214	0.482000	0.46254	ACA		0.478	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1		
COX16	51241	broad.mit.edu	37	14	70795916	70795916	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:70795916T>G	ENST00000389912.6	-	3	322	c.179A>C	c.(178-180)aAa>aCa	p.K60T	SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	60						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)		p.K60T(1)		large_intestine(1)|lung(2)	3						TAAAGATATTTTATTCTCTTT	0.294																																					p.K60T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A179C	14						.						61.0	66.0	64.0					14																	70795916		2197	4286	6483	69865669	SO:0001583	missense	51241	exon3			AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.179A>C	14.37:g.70795916T>G	ENSP00000374562:p.Lys60Thr		69865669	NM_016468	A6NDT5|A8K3X8	Missense_Mutation	SNP	ENST00000389912.6	37	CCDS9802.1	.	.	.	.	.	.	.	.	.	.	T	8.754	0.922038	0.17982	.	.	ENSG00000133983	ENST00000389912	.	.	.	3.65	3.65	0.41850	.	0.177923	0.32987	U	0.005408	T	0.49830	0.1580	M	0.71206	2.165	0.31766	N	0.632701	B	0.25904	0.137	B	0.28465	0.09	T	0.59166	-0.7505	9	0.46703	T	0.11	.	8.9964	0.36055	0.0:0.0:0.0:1.0	.	60	Q9P0S2	COX16_HUMAN	T	60	.	ENSP00000374562:K60T	K	-	2	0	COX16	69865669	1.000000	0.71417	0.992000	0.48379	0.168000	0.22595	2.140000	0.42159	1.910000	0.55303	0.383000	0.25322	AAA		0.294	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2	NM_016468	
ADAM21	8747	broad.mit.edu	37	14	70925425	70925425	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:70925425C>T	ENST00000603540.1	+	2	1467	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	ADAM21_ENST00000267499.3_Silent_p.I403I|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	403					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.I403I(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)		TGGGGGAAATCTTTATGCTAA	0.458																																					p.I403I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1209T	14						.						89.0	86.0	87.0					14																	70925425		2203	4300	6503	69995178	SO:0001819	synonymous_variant	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.1209C>T	14.37:g.70925425C>T			69995178	NM_003813	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	CCDS9804.1																																																																																				0.458	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
PCNX	22990	broad.mit.edu	37	14	71540387	71540387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:71540387C>T	ENST00000304743.2	+	27	5424	c.4978C>T	c.(4978-4980)Cga>Tga	p.R1660*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.R1549*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.R1588*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1660						integral component of membrane (GO:0016021)		p.R1660*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTAGCCAGCGATGGCTAGC	0.438																																					p.R1660X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4978T	14						.						237.0	208.0	218.0					14																	71540387		2203	4300	6503	70610140	SO:0001587	stop_gained	22990	exon27			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4978C>T	14.37:g.71540387C>T	ENSP00000304192:p.Arg1660*		70610140	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	36	5.848689	0.97023	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	4.97	4.08	0.47627	.	0.044134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5025	0.61465	0.0:0.9248:0.0:0.0752	.	.	.	.	X	1660;1588;1549	.	ENSP00000238570:R1588X	R	+	1	2	PCNX	70610140	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.278000	0.78587	1.457000	0.47850	0.650000	0.86243	CGA		0.438	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
RGS6	9628	broad.mit.edu	37	14	72985128	72985128	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:72985128C>A	ENST00000553530.1	+	15	1368	c.1161C>A	c.(1159-1161)atC>atA	p.I387I	RGS6_ENST00000343854.6_Silent_p.I350I|RGS6_ENST00000407322.4_Silent_p.I387I|RGS6_ENST00000402788.2_Silent_p.I387I|RGS6_ENST00000406236.4_Silent_p.I387I|RGS6_ENST00000556437.1_Silent_p.I387I|RGS6_ENST00000355512.6_Silent_p.I387I|RGS6_ENST00000555571.1_Silent_p.I387I|RGS6_ENST00000434263.2_Silent_p.I318I|RGS6_ENST00000553525.1_Silent_p.I387I|RGS6_ENST00000554782.1_Silent_p.I248I|RGS6_ENST00000404301.2_Silent_p.I387I	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	387	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)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.I387I(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TAGAAGAAATCTGGCAAGAGT	0.478																																					p.I387I	Ovarian(143;1926 2468 21071 48641)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1161A	14						.						75.0	77.0	76.0					14																	72985128		2203	4300	6503	72054881	SO:0001819	synonymous_variant	9628	exon15			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1161C>A	14.37:g.72985128C>A			72054881	NM_004296	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	CCDS9808.1																																																																																				0.478	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2		
RBM25	58517	broad.mit.edu	37	14	73586446	73586446	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:73586446T>G	ENST00000261973.7	+	19	2750	c.2465T>G	c.(2464-2466)tTt>tGt	p.F822C	RBM25_ENST00000527432.1_Missense_Mutation_p.F822C	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	822	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F822C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GCAGAAGTTTTTATAGTCAAA	0.323																																					p.F822C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2465G	14						.						128.0	136.0	133.0					14																	73586446		2203	4300	6503	72656199	SO:0001583	missense	58517	exon19			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2465T>G	14.37:g.73586446T>G	ENSP00000261973:p.Phe822Cys		72656199	NM_021239	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710646	0.68730	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.80909	-1.43;-1.43	5.43	5.43	0.79202	Splicing factor PWI (5);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93847	0.7142	10	0.87932	D	0	.	15.7748	0.78204	0.0:0.0:0.0:1.0	.	822	P49756	RBM25_HUMAN	C	822	ENSP00000261973:F822C;ENSP00000431150:F822C	ENSP00000261973:F822C	F	+	2	0	RBM25	72656199	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.179000	0.69175	0.482000	0.46254	TTT		0.323	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
YLPM1	56252	broad.mit.edu	37	14	75245228	75245228	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:75245228A>C	ENST00000552421.1	+	2	1076	c.952A>C	c.(952-954)Aag>Cag	p.K318Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.K318Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.K318Q			P49750	YLPM1_HUMAN	YLP motif containing 1	318					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.K318Q(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGACACAAAAAGGGTCCTGT	0.448																																					p.K318Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A952C	14						.						65.0	66.0	66.0					14																	75245228		1881	4103	5984	74314981	SO:0001583	missense	56252	exon2			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.952A>C	14.37:g.75245228A>C	ENSP00000447921:p.Lys318Gln		74314981	NM_019589	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	A	11.83	1.755830	0.31046	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	T;T;T	0.23348	1.91;1.91;1.91	5.42	4.21	0.49690	.	0.084750	0.50627	D	0.000108	T	0.11537	0.0281	N	0.14661	0.345	0.26028	N	0.981778	B	0.29988	0.264	B	0.24006	0.05	T	0.19451	-1.0305	10	0.15499	T	0.54	-13.9357	6.9943	0.24774	0.7003:0.1529:0.0:0.1468	.	318	P49750-4	.	Q	318;318;318;31	ENSP00000447921:K318Q;ENSP00000324463:K318Q;ENSP00000238571:K318Q	ENSP00000238571:K318Q	K	+	1	0	YLPM1	74314981	0.998000	0.40836	0.999000	0.59377	0.980000	0.70556	1.174000	0.31932	2.050000	0.60909	0.482000	0.46254	AAG		0.448	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
PROX2	283571	broad.mit.edu	37	14	75330462	75330462	+	Missense_Mutation	SNP	C	C	T	rs201978225		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:75330462C>T	ENST00000445876.1	-	1	75	c.76G>A	c.(76-78)Gag>Aag	p.E26K	PROX2_ENST00000556489.2_Missense_Mutation_p.E26K|PROX2_ENST00000556084.2_Missense_Mutation_p.E26K			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	26					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E26K(1)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GAGCTTCTCTCGCCTTCCGTA	0.567																																					p.E26K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76A	14						.	C	LYS/GLU	0,3942		0,0,1971	65.0	66.0	65.0		76	4.7	0.0	14		65	1,8305		0,1,4152	yes	missense	PROX2	NM_001080408.2	56	0,1,6123	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging	26/593	75330462	1,12247	1971	4153	6124	74400215	SO:0001583	missense	283571	exon1				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.76G>A	14.37:g.75330462C>T	ENSP00000405932:p.Glu26Lys		74400215	NM_001080408	C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	C	8.798	0.932258	0.18131	0.0	1.2E-4	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	T;T	0.44482	0.92;0.92	5.59	4.7	0.59300	.	0.633712	0.15102	N	0.280441	T	0.30262	0.0759	L	0.51422	1.61	0.09310	N	1	P	0.38280	0.625	B	0.25614	0.062	T	0.22521	-1.0214	10	0.40728	T	0.16	.	7.3967	0.26939	0.0:0.7725:0.0:0.2275	.	26	G3V3G0	.	K	26	ENSP00000451223:E26K;ENSP00000405932:E26K	ENSP00000374315:E26K	E	-	1	0	PROX2	74400215	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.738000	0.26158	1.377000	0.46286	0.561000	0.74099	GAG		0.567	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
MLH3	27030	broad.mit.edu	37	14	75513894	75513894	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:75513894C>T	ENST00000556740.1	-	1	2500	c.2465G>A	c.(2464-2466)aGc>aAc	p.S822N	MLH3_ENST00000238662.7_Missense_Mutation_p.S822N|MLH3_ENST00000355774.2_Missense_Mutation_p.S822N|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.S822N			Q9UHC1	MLH3_HUMAN	mutL homolog 3	822					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.S822N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AAGGATGTGGCTTGCTGGTTG	0.413								Mismatch excision repair (MMR)																													p.S822N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2465A	14						.						90.0	92.0	91.0					14																	75513894		2203	4300	6503	74583647	SO:0001583	missense	27030	exon2			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2465G>A	14.37:g.75513894C>T	ENSP00000452316:p.Ser822Asn		74583647	NM_001040108	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	2.747	-0.260891	0.05791	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;D;D;T	0.82081	-1.48;-1.51;-1.57;-1.48	5.93	5.04	0.67666	.	0.756266	0.13007	N	0.421182	T	0.70850	0.3271	N	0.25380	0.74	0.20074	N	0.999935	B;B	0.12013	0.005;0.003	B;B	0.13407	0.009;0.002	T	0.56068	-0.8040	10	0.21014	T	0.42	-0.6204	7.1156	0.25414	0.1398:0.716:0.0:0.1441	.	822;822	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	N	822	ENSP00000348020:S822N;ENSP00000238662:S822N;ENSP00000451540:S822N;ENSP00000452316:S822N	ENSP00000238662:S822N	S	-	2	0	MLH3	74583647	0.301000	0.24444	0.085000	0.20634	0.005000	0.04900	0.536000	0.23129	1.517000	0.48917	0.655000	0.94253	AGC		0.413	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
NEK9	91754	broad.mit.edu	37	14	75567726	75567726	+	Silent	SNP	G	G	A	rs193018616		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:75567726G>A	ENST00000238616.5	-	16	2129	c.1971C>T	c.(1969-1971)tgC>tgT	p.C657C		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	657					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.C657C(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)		ACTCATCACCGCAGGAGACCC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		16127	0.0		0.001	False		,,,				2504	0.0				p.C657C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1971T	14						.						96.0	90.0	92.0					14																	75567726		2203	4300	6503	74637479	SO:0001819	synonymous_variant	91754	exon16			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.1971C>T	14.37:g.75567726G>A			74637479	NM_033116	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	CCDS9839.1																																																																																				0.517	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116	
GPATCH2L	55668	broad.mit.edu	37	14	76644334	76644334	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:76644334G>T	ENST00000261530.7	+	7	1122	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	GPATCH2L_ENST00000553588.1_5'Flank|GPATCH2L_ENST00000312858.5_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	352								p.K352N(1)									TCTTTAGAAAGAATAAAGCGT	0.348																																					p.K352N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1056T	14						.						167.0	176.0	173.0					14																	76644334		2203	4300	6503	75714087	SO:0001583	missense	55668	exon7			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1056G>T	14.37:g.76644334G>T	ENSP00000261530:p.Lys352Asn		75714087	NM_017926	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821017	0.71028	.	.	ENSG00000089916	ENST00000261530	T	0.44881	0.91	5.2	5.2	0.72013	.	0.168402	0.37437	N	0.002087	T	0.44767	0.1309	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.49184	-0.8966	10	0.32370	T	0.25	-26.0039	17.2851	0.87139	0.0:0.0:1.0:0.0	.	352	Q9NWQ4	CN118_HUMAN	N	352	ENSP00000261530:K352N	ENSP00000261530:K352N	K	+	3	2	C14orf118	75714087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.008000	0.70739	2.575000	0.86900	0.655000	0.94253	AAG		0.348	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926	
TMEM63C	57156	broad.mit.edu	37	14	77709270	77709270	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:77709270C>A	ENST00000298351.4	+	15	1356	c.1212C>A	c.(1210-1212)ttC>ttA	p.F404L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	404					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.F404L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCGCCGCTTCTTTTGGTGGG	0.507																																					p.F404L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1212A	14						.						104.0	112.0	110.0					14																	77709270		2034	4186	6220	76779023	SO:0001583	missense	57156	exon15				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1212C>A	14.37:g.77709270C>A	ENSP00000298351:p.Phe404Leu		76779023	NM_020431	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747662	0.30955	.	.	ENSG00000165548	ENST00000298351	T	0.27890	1.64	5.06	2.95	0.34219	Domain of unknown function DUF221 (1);	0.541770	0.20733	N	0.086680	T	0.17109	0.0411	L	0.33485	1.01	0.26322	N	0.97765	B	0.15473	0.013	B	0.21708	0.036	T	0.19647	-1.0299	10	0.11485	T	0.65	-19.4803	2.6975	0.05139	0.3898:0.3143:0.0:0.2959	.	404	Q9P1W3	TM63C_HUMAN	L	404	ENSP00000298351:F404L	ENSP00000298351:F404L	F	+	3	2	TMEM63C	76779023	0.014000	0.17966	0.806000	0.32338	0.995000	0.86356	0.278000	0.18753	1.132000	0.42129	0.561000	0.74099	TTC		0.507	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		
TMED8	283578	broad.mit.edu	37	14	77809650	77809650	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:77809650C>T	ENST00000216468.7	-	5	686	c.631G>A	c.(631-633)Gat>Aat	p.D211N		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	211	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.D211N(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)		TCATAGTCATCGGTCGCAAAC	0.517																																					p.D211N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	14						.						110.0	87.0	95.0					14																	77809650		2203	4300	6503	76879403	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.631G>A	14.37:g.77809650C>T	ENSP00000216468:p.Asp211Asn		76879403	NM_213601	B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659111	0.96734	.	.	ENSG00000100580	ENST00000216468	T	0.47177	0.85	5.98	5.98	0.97165	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.80132	-0.1510	10	0.87932	D	0	-19.0488	20.4293	0.99080	0.0:1.0:0.0:0.0	.	211	Q6PL24	TMED8_HUMAN	N	211	ENSP00000216468:D211N	ENSP00000216468:D211N	D	-	1	0	TMED8	76879403	1.000000	0.71417	0.920000	0.36463	0.897000	0.52465	7.487000	0.81328	2.833000	0.97629	0.655000	0.94253	GAT		0.517	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601	
C14orf178	283579	broad.mit.edu	37	14	78235896	78235896	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:78235896G>T	ENST00000355883.3	+	3	453	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	C14orf178_ENST00000556047.1_3'UTR|C14orf178_ENST00000557011.1_3'UTR|C14orf178_ENST00000439131.2_Missense_Mutation_p.D52Y	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	82								p.D82Y(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCAAGTGAAAGATTCTACCTT	0.502																																					p.D82Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244T	14						.						76.0	66.0	69.0					14																	78235896		2203	4300	6503	77305649	SO:0001583	missense	283579	exon3			AK098842	CCDS9868.1, CCDS53906.1	14q24.3	2012-03-13			ENSG00000197734	ENSG00000197734			26385	protein-coding gene	gene with protein product						12477932	Standard	NM_001173978		Approved	FLJ25976	uc021rwv.1	Q8N769	OTTHUMG00000171528	ENST00000355883.3:c.244G>T	14.37:g.78235896G>T	ENSP00000348145:p.Asp82Tyr		77305649	NM_174943	Q2HIX2|Q3KNR7	Missense_Mutation	SNP	ENST00000355883.3	37	CCDS9868.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316614	0.40996	.	.	ENSG00000197734	ENST00000439131;ENST00000355883	T;T	0.49139	0.79;1.37	2.14	-0.829	0.10796	.	.	.	.	.	T	0.47469	0.1447	L	0.28400	0.85	0.09310	N	1	D	0.62365	0.991	D	0.65684	0.937	T	0.34925	-0.9809	9	0.46703	T	0.11	.	5.0261	0.14385	0.5066:0.0:0.4934:0.0	.	82	Q8N769	CN178_HUMAN	Y	52;82	ENSP00000407405:D52Y;ENSP00000348145:D82Y	ENSP00000348145:D82Y	D	+	1	0	C14orf178	77305649	0.000000	0.05858	0.003000	0.11579	0.526000	0.34562	-0.266000	0.08631	-0.223000	0.09943	0.448000	0.29417	GAT		0.502	C14orf178-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413920.1	NM_174943	
NRXN3	9369	broad.mit.edu	37	14	79117586	79117586	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:79117586T>G	ENST00000554719.1	+	3	510	c.19T>G	c.(19-21)Ttc>Gtc	p.F7V	NRXN3_ENST00000335750.5_Missense_Mutation_p.F7V	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.F7V(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)		CTCGGACGACTTCTTCTATGT	0.522																																					p.F7V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T19G	14						.						186.0	171.0	176.0					14																	79117586		2203	4300	6503	78187339	SO:0001583	missense	9369	exon3			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.19T>G	14.37:g.79117586T>G	ENSP00000451648:p.Phe7Val		78187339	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.728232|4.728232	0.89390|0.89390	.|.	.|.	ENSG00000021645|ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750|ENST00000553363	T;T|.	0.78595|.	-1.19;-1.19|.	6.01|6.01	6.01|6.01	0.97437|0.97437	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73466|0.73466	0.3590|0.3590	.|.	.|.	.|.	0.53005|0.53005	D|D	0.999966|0.999966	D;P|.	0.61697|.	0.99;0.6|.	D;B|.	0.74023|.	0.982;0.238|.	T|T	0.72276|0.72276	-0.4341|-0.4341	8|4	.|.	.|.	.|.	.|.	16.5206|16.5206	0.84315|0.84315	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	380;7|.	Q9Y4C0;Q9Y4C0-3|.	NRX3A_HUMAN;.|.	V|R	380;378;7;7|152	ENSP00000451648:F7V;ENSP00000338349:F7V|.	.|.	F|L	+|+	1|2	0|0	NRXN3|NRXN3	78187339|78187339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	8.040000|8.040000	0.89188|0.89188	2.299000|2.299000	0.77371|0.77371	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
CEP128	145508	broad.mit.edu	37	14	81227947	81227947	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:81227947A>G	ENST00000555265.1	-	17	2762	c.2387T>C	c.(2386-2388)aTa>aCa	p.I796T	CEP128_ENST00000281129.3_Missense_Mutation_p.I796T			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	796						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.I796T(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						TTCAATGCTTATATGTTTTTC	0.388																																					p.I796T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2387C	14						.						99.0	87.0	91.0					14																	81227947		2203	4300	6503	80297700	SO:0001583	missense	145508	exon16			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.2387T>C	14.37:g.81227947A>G	ENSP00000451162:p.Ile796Thr		80297700	NM_152446	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340633	0.24339	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.32753	1.44;1.44	5.06	3.89	0.44902	.	0.572753	0.16800	N	0.199025	T	0.30166	0.0756	L	0.54323	1.7	0.33889	D	0.637048	P	0.38504	0.634	B	0.39258	0.295	T	0.39187	-0.9626	10	0.32370	T	0.25	.	10.9056	0.47078	0.8424:0.1576:0.0:0.0	.	796	Q6ZU80	CE128_HUMAN	T	796	ENSP00000281129:I796T;ENSP00000451162:I796T	ENSP00000281129:I796T	I	-	2	0	CEP128	80297700	1.000000	0.71417	0.764000	0.31436	0.473000	0.32948	6.016000	0.70798	0.857000	0.35407	-0.435000	0.05868	ATA		0.388	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
CEP128	145508	broad.mit.edu	37	14	81302676	81302676	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:81302676T>C	ENST00000555265.1	-	12	1305	c.930A>G	c.(928-930)gaA>gaG	p.E310E	CEP128_ENST00000216517.6_Silent_p.E310E|CEP128_ENST00000281129.3_Silent_p.E310E			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	310						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.E310E(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						TACGCAGTTCTTCTACCTAAC	0.388																																					p.E310E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A930G	14						.						232.0	196.0	208.0					14																	81302676		2203	4300	6503	80372429	SO:0001819	synonymous_variant	145508	exon11			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.930A>G	14.37:g.81302676T>C			80372429	NM_152446	B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	4.973	0.180748	0.09443	.	.	ENSG00000100629	ENST00000554827	.	.	.	5.26	4.1	0.47936	.	.	.	.	.	T	0.55924	0.1951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51639	-0.8680	4	.	.	.	.	6.6063	0.22727	0.0:0.2319:0.0:0.7681	.	.	.	.	R	189	.	.	K	-	2	0	CEP128	80372429	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	0.831000	0.27476	0.932000	0.37266	0.533000	0.62120	AAG		0.388	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
GTF2A1	2957	broad.mit.edu	37	14	81667943	81667943	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:81667943T>G	ENST00000553612.1	-	4	800	c.397A>C	c.(397-399)Aac>Cac	p.N133H	GTF2A1_ENST00000434192.2_Missense_Mutation_p.N94H|SNORA79_ENST00000408376.1_RNA	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	133					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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.N133H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CTTACCATGTTTGATGCATTC	0.358																																					p.N133H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A397C	14						.						158.0	129.0	139.0					14																	81667943		2203	4300	6503	80737696	SO:0001583	missense	2957	exon4			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.397A>C	14.37:g.81667943T>G	ENSP00000452454:p.Asn133His		80737696	NM_015859	Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602032	0.66445	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.43688	0.94;0.94	6.16	5.03	0.67393	.	0.132610	0.64402	D	0.000001	T	0.24160	0.0585	N	0.08118	0	0.30043	N	0.812469	B;B	0.31351	0.32;0.14	B;B	0.38264	0.192;0.269	T	0.11275	-1.0594	10	0.45353	T	0.12	-5.1951	4.9986	0.14253	0.0:0.2415:0.0:0.7585	.	94;133	P52655-2;P52655	.;TF2AA_HUMAN	H	133;94;94	ENSP00000452454:N133H;ENSP00000409492:N94H	ENSP00000298173:N133H	N	-	1	0	GTF2A1	80737696	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.188000	0.65093	2.367000	0.80283	0.528000	0.53228	AAC		0.358	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859	
STON2	85439	broad.mit.edu	37	14	81744549	81744549	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:81744549A>C	ENST00000267540.2	-	4	1306	c.1106T>G	c.(1105-1107)tTt>tGt	p.F369C	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.F369C	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	369					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.F369C(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)		TGAATCATCAAAACTGATGGC	0.463																																					p.F369C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1106G	14						.						105.0	107.0	107.0					14																	81744549		2203	4300	6503	80814302	SO:0001583	missense	85439	exon4			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.1106T>G	14.37:g.81744549A>C	ENSP00000267540:p.Phe369Cys		80814302	NM_033104	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478132	0.44044	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.13538	2.58;2.59	6.17	5.02	0.67125	.	0.120811	0.56097	D	0.000023	T	0.32556	0.0833	L	0.57536	1.79	0.33019	D	0.528551	D;D	0.89917	1.0;1.0	D;D	0.78314	0.98;0.991	T	0.46359	-0.9197	10	0.54805	T	0.06	-19.5835	12.9304	0.58284	0.8784:0.0:0.0:0.1216	.	369;369	Q8WXE9;G3V2T7	STON2_HUMAN;.	C	369;381;369	ENSP00000450857:F369C;ENSP00000267540:F369C	ENSP00000267540:F369C	F	-	2	0	STON2	80814302	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.032000	0.57274	1.131000	0.42111	0.533000	0.62120	TTT		0.463	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
FLRT2	23768	broad.mit.edu	37	14	86088904	86088904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:86088904C>T	ENST00000330753.4	+	2	1813	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	FLRT2_ENST00000554746.1_Missense_Mutation_p.A349V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	349	LRRCT.				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.A349V(1)		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)		CGGGGGATGGCCGTCAGGGAA	0.527																																					p.A349V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1046T	14						.						103.0	114.0	110.0					14																	86088904		2203	4300	6503	85158657	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.1046C>T	14.37:g.86088904C>T	ENSP00000332879:p.Ala349Val		85158657	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499576	0.44455	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.02395	4.31;4.31	6.07	6.07	0.98685	Cysteine-rich flanking region, C-terminal (1);	0.050733	0.85682	D	0.000000	T	0.05044	0.0135	L	0.46819	1.47	0.48696	D	0.999692	B	0.18310	0.027	B	0.12837	0.008	T	0.50110	-0.8866	10	0.27785	T	0.31	-16.5787	20.6439	0.99570	0.0:1.0:0.0:0.0	.	349	O43155	FLRT2_HUMAN	V	349;349;2	ENSP00000332879:A349V;ENSP00000451050:A349V	ENSP00000332879:A349V	A	+	2	0	FLRT2	85158657	0.998000	0.40836	0.992000	0.48379	0.987000	0.75469	3.725000	0.54970	2.884000	0.98904	0.655000	0.94253	GCC		0.527	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
ZC3H14	79882	broad.mit.edu	37	14	89061269	89061269	+	Intron	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:89061269C>A	ENST00000251038.5	+	10	1504				ZC3H14_ENST00000555900.1_Missense_Mutation_p.L67I|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Missense_Mutation_p.L67I|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000318308.6_Missense_Mutation_p.L67I	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							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L67I(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGAAGCAAATCTTTTTGATCT	0.313																																					p.L67I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C199A	14						.						51.0	50.0	50.0					14																	89061269		2202	4300	6502	88131022	SO:0001627	intron_variant	79882	exon1			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.1280-1809C>A	14.37:g.89061269C>A			88131022	NM_207662	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181394	0.38511	.	.	ENSG00000100722	ENST00000318308;ENST00000555900;ENST00000406216;ENST00000557737	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.61	1.42	0.22433	.	.	.	.	.	T	0.71736	0.3375	L	0.40543	1.245	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.24848	0.031;0.056	T	0.63580	-0.6605	9	0.44086	T	0.13	.	9.6833	0.40082	0.152:0.4055:0.4425:0.0	.	67;67	Q6PJT7-8;Q6PJT7-6	.;.	I	67	ENSP00000327176:L67I;ENSP00000451530:L67I;ENSP00000384682:L67I;ENSP00000451941:L67I	ENSP00000327176:L67I	L	+	1	0	ZC3H14	88131022	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	1.326000	0.33735	0.290000	0.22444	-0.175000	0.13238	CTT		0.313	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	
EML5	161436	broad.mit.edu	37	14	89192995	89192995	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:89192995T>G	ENST00000380664.5	-	8	1076	c.1077A>C	c.(1075-1077)ttA>ttC	p.L359F	EML5_ENST00000352093.5_Missense_Mutation_p.L359F|EML5_ENST00000554922.1_Missense_Mutation_p.L359F			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	359						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.L359F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCTTGCTATTAATGCATGAT	0.333																																					p.L359F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1077C	14						.						111.0	93.0	99.0					14																	89192995		1867	4093	5960	88262748	SO:0001583	missense	161436	exon8			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1077A>C	14.37:g.89192995T>G	ENSP00000370039:p.Leu359Phe		88262748	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.498101	0.64186	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.19806	2.12;2.12;4.89	4.95	2.55	0.30701	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000014	T	0.43809	0.1264	M	0.88775	2.98	0.45490	D	0.99845	D	0.89917	1.0	D	0.91635	0.999	T	0.43637	-0.9379	10	0.21014	T	0.42	-8.7312	6.1102	0.20096	0.0:0.4015:0.0:0.5985	.	359	Q05BV3	EMAL5_HUMAN	F	359	ENSP00000451998:L359F;ENSP00000298315:L359F;ENSP00000370039:L359F	ENSP00000298315:L359F	L	-	3	2	EML5	88262748	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.455000	0.21843	0.924000	0.37069	0.379000	0.24179	TTA		0.333	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
TDP1	55775	broad.mit.edu	37	14	90450886	90450886	+	Missense_Mutation	SNP	G	G	A	rs34452707	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:90450886G>A	ENST00000335725.4	+	9	1161	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	TDP1_ENST00000393454.2_Missense_Mutation_p.R304Q|TDP1_ENST00000393452.3_Missense_Mutation_p.R304Q|TDP1_ENST00000357382.3_Missense_Mutation_p.R65Q|TDP1_ENST00000555880.1_Missense_Mutation_p.R304Q	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	304			R -> Q (in dbSNP:rs34452707). {ECO:0000269|Ref.3}.		cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.R304Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTATACCCACGAATTGCTGAT	0.403								Repair of DNA-protein crosslinks					G|||	43	0.00858626	0.0325	0.0	5008	,	,		21468	0.0		0.0	False		,,,				2504	0.0				p.R304Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G911A	14						.	G	GLN/ARG,GLN/ARG	80,4326	70.9+/-108.8	0,80,2123	165.0	160.0	161.0		911,911	3.7	0.9	14	dbSNP_126	161	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TDP1	NM_001008744.1,NM_018319.3	43,43	0,81,6422	AA,AG,GG		0.0116,1.8157,0.6228	probably-damaging,probably-damaging	304/609,304/609	90450886	81,12925	2203	4300	6503	89520639	SO:0001583	missense	55775	exon8			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.911G>A	14.37:g.90450886G>A	ENSP00000337353:p.Arg304Gln		89520639	NM_001008744	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	CCDS9888.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	17.48	3.401028	0.62288	0.018157	1.16E-4	ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000357382;ENST00000555880	T;T;T;T;T;T	0.46063	1.47;1.47;1.47;1.47;0.88;1.47	5.47	3.66	0.41972	.	0.065355	0.64402	N	0.000012	T	0.38054	0.1026	M	0.68952	2.095	0.58432	D	0.999996	D;D;D;D	0.76494	0.999;0.999;0.989;0.999	P;P;P;P	0.59948	0.749;0.837;0.51;0.866	T	0.39143	-0.9628	10	0.23302	T	0.38	-6.3094	11.9049	0.52705	0.1422:0.0:0.8578:0.0	rs34452707;rs35385637	304;304;65;304	G3V2F4;E7EPD8;Q86TV8;Q9NUW8	.;.;.;TYDP1_HUMAN	Q	304;304;205;304;65;304	ENSP00000377098:R304Q;ENSP00000377099:R304Q;ENSP00000450708:R205Q;ENSP00000337353:R304Q;ENSP00000349952:R65Q;ENSP00000450628:R304Q	ENSP00000337353:R304Q	R	+	2	0	TDP1	89520639	1.000000	0.71417	0.903000	0.35520	0.286000	0.27126	4.349000	0.59385	0.700000	0.31782	-0.749000	0.03505	CGA		0.403	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319	
KCNK13	56659	broad.mit.edu	37	14	90650504	90650504	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:90650504C>T	ENST00000282146.4	+	2	825	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	128					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.I128I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCTTTCTGATCTTTTACGGCC	0.478																																					p.I128I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C384T	14						.						112.0	120.0	117.0					14																	90650504		2203	4300	6503	89720257	SO:0001819	synonymous_variant	56659	exon2			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.384C>T	14.37:g.90650504C>T			89720257	NM_022054	B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	CCDS9889.1																																																																																				0.478	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
CATSPERB	79820	broad.mit.edu	37	14	92126304	92126304	+	Missense_Mutation	SNP	C	C	T	rs147058492	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:92126304C>T	ENST00000256343.3	-	15	1465	c.1309G>A	c.(1309-1311)Ggc>Agc	p.G437S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	437					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.G437S(1)		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)				AAGGTGTTGCCGCCATCAACT	0.358																																					p.G437S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1309A	14						.	C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	80.0	80.0	80.0		1309	4.6	1.0	14	dbSNP_134	80	5,8595	3.7+/-12.6	0,5,4295	yes	missense	CATSPERB	NM_024764.2	56	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging	437/1117	92126304	6,13000	2203	4300	6503	91196057	SO:0001583	missense	79820	exon15			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.1309G>A	14.37:g.92126304C>T	ENSP00000256343:p.Gly437Ser		91196057	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837079	0.50951	2.27E-4	5.81E-4	ENSG00000133962	ENST00000256343	T	0.61627	0.09	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000047	T	0.71333	0.3327	L	0.58101	1.795	0.37009	D	0.895654	D	0.89917	1.0	D	0.91635	0.999	T	0.77943	-0.2398	10	0.87932	D	0	-9.6013	13.332	0.60492	0.0:1.0:0.0:0.0	.	437	Q9H7T0	CTSRB_HUMAN	S	437	ENSP00000256343:G437S	ENSP00000256343:G437S	G	-	1	0	CATSPERB	91196057	1.000000	0.71417	0.957000	0.39632	0.192000	0.23643	3.716000	0.54904	2.258000	0.74832	0.555000	0.69702	GGC		0.358	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
TRIP11	9321	broad.mit.edu	37	14	92472006	92472006	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:92472006C>A	ENST00000267622.4	-	11	2687	c.2314G>T	c.(2314-2316)Gac>Tac	p.D772Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	772					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.D772Y(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)		ATTTCCATGTCTTTCTTTTGA	0.343			T	PDGFRB	AML																																p.D772Y	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.G2314T	14						.						170.0	173.0	172.0					14																	92472006		2203	4298	6501	91541759	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.2314G>T	14.37:g.92472006C>A	ENSP00000267622:p.Asp772Tyr		91541759	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.51|14.51	2.558149|2.558149	0.45590|0.45590	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.09911|.	2.93|.	5.82|5.82	4.94|4.94	0.65067|0.65067	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71651|0.71651	0.3365|0.3365	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.961;1.0|.	T|T	0.71504|0.71504	-0.4573|-0.4573	10|5	0.72032|.	D|.	0.01|.	.|.	14.764|14.764	0.69626|0.69626	0.0:0.9308:0.0:0.0692|0.0:0.9308:0.0:0.0692	.|.	508;772|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Y|I	772;508|487	ENSP00000267622:D772Y|.	ENSP00000267622:D772Y|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91541759|91541759	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.375000|0.375000	0.29983|0.29983	4.706000|4.706000	0.61845|0.61845	1.463000|1.463000	0.47967|0.47967	0.484000|0.484000	0.47621|0.47621	GAC|AGA		0.343	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
TRIP11	9321	broad.mit.edu	37	14	92480762	92480762	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:92480762T>C	ENST00000267622.4	-	7	1356	c.983A>G	c.(982-984)gAc>gGc	p.D328G		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	328					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.D328G(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)		AATATCTCTGTCATTTTCTGC	0.294			T	PDGFRB	AML																																p.D328G	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.A983G	14						.						84.0	75.0	78.0					14																	92480762		2203	4300	6503	91550515	SO:0001583	missense	9321	exon7			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.983A>G	14.37:g.92480762T>C	ENSP00000267622:p.Asp328Gly		91550515	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.25|19.25	3.791921|3.791921	0.70452|0.70452	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.61392|.	0.11|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.208916|.	0.42682|.	D|.	0.000674|.	T|.	0.67942|.	0.2947|.	M|M	0.67953|0.67953	2.075|2.075	0.35624|0.35624	D|D	0.80969|0.80969	P;P|.	0.43885|.	0.59;0.82|.	B;P|.	0.44990|.	0.202;0.466|.	T|.	0.75605|.	-0.3260|.	10|.	0.62326|.	D|.	0.03|.	.|.	14.6345|14.6345	0.68678|0.68678	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	93;328|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	G|W	328;93|72	ENSP00000267622:D328G|.	ENSP00000267622:D328G|.	D|X	-|-	2|3	0|0	TRIP11|TRIP11	91550515|91550515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	3.588000|3.588000	0.53964|0.53964	1.988000|1.988000	0.58038|0.58038	0.459000|0.459000	0.35465|0.35465	GAC|TGA		0.294	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
SLC24A4	123041	broad.mit.edu	37	14	92909064	92909064	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:92909064C>T	ENST00000532405.1	+	6	712	c.486C>T	c.(484-486)ttC>ttT	p.F162F	SLC24A4_ENST00000531433.1_Silent_p.F162F|SLC24A4_ENST00000351924.5_Silent_p.F145F|SLC24A4_ENST00000298877.1_Silent_p.F145F|SLC24A4_ENST00000393265.2_Silent_p.F98F			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	162					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.F145F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CAGGGGTGTTCATCACCCATG	0.592																																					p.F162F	NSCLC(10;315 435 10383 28450 38798)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486T	14						.						147.0	128.0	135.0					14																	92909064		2203	4300	6503	91978817	SO:0001819	synonymous_variant	123041	exon6			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.486C>T	14.37:g.92909064C>T			91978817	NM_153646	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280235	0.23392	.	.	ENSG00000140090	ENST00000525557	.	.	.	4.89	4.0	0.46444	.	.	.	.	.	T	0.55625	0.1932	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52313	-0.8592	4	.	.	.	.	6.3205	0.21215	0.0:0.6741:0.0:0.3259	.	.	.	.	Y	47	.	.	H	+	1	0	SLC24A4	91978817	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.719000	0.54926	1.203000	0.43233	0.655000	0.94253	CAT		0.592	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
RIN3	79890	broad.mit.edu	37	14	93125602	93125602	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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		
BTBD7	55727	broad.mit.edu	37	14	93730195	93730195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:93730195G>A	ENST00000334746.5	-	4	1614	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.S85L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	436	BACK.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.S436L(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAAACATCCGAAGTCATGAC	0.423																																					p.S436L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1307T	14						.						127.0	118.0	121.0					14																	93730195		2203	4300	6503	92799948	SO:0001583	missense	55727	exon4			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1307C>T	14.37:g.93730195G>A	ENSP00000335615:p.Ser436Leu		92799948	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160683	0.94727	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	T;T	0.70516	-0.49;-0.49	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81903	0.4921	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.992	D	0.83950	0.0316	10	0.87932	D	0	.	18.3233	0.90246	0.0:0.0:1.0:0.0	.	85;436	Q9P203-5;Q9P203	.;BTBD7_HUMAN	L	436;85	ENSP00000335615:S436L;ENSP00000451010:S85L	ENSP00000335615:S436L	S	-	2	0	BTBD7	92799948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.351000	0.79841	0.558000	0.71614	TCG		0.423	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
BTBD7	55727	broad.mit.edu	37	14	93754985	93754985	+	Intron	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:93754985A>G	ENST00000334746.5	-	3	1470				BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000298896.3_Nonstop_Mutation_p.*411Q|BTBD7_ENST00000555525.1_Silent_p.L418L|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7						multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.*411Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		tttcatatttaagattgaggc	0.438																																					p.X411Q												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T1231C	14						.						121.0	124.0	123.0					14																	93754985		2203	4300	6503	92824738	SO:0001627	intron_variant	55727	exon4			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1162+5218T>C	14.37:g.93754985A>G			92824738	NM_018167	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonstop_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	1.077	-0.668250	0.03428	.	.	ENSG00000011114	ENST00000298896	.	.	.	2.73	0.201	0.15186	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7379	0.12997	0.695:0.0:0.305:0.0	.	.	.	.	Q	411	.	.	X	-	1	0	BTBD7	92824738	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.384000	0.20668	0.034000	0.15491	0.260000	0.18958	TAA		0.438	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
UNC79	57578	broad.mit.edu	37	14	94083572	94083572	+	Silent	SNP	G	G	A	rs576790566		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:94083572G>A	ENST00000393151.2	+	28	4146	c.4146G>A	c.(4144-4146)ccG>ccA	p.P1382P	UNC79_ENST00000555664.1_Silent_p.P1382P|UNC79_ENST00000256339.4_Silent_p.P1205P|UNC79_ENST00000553484.1_Silent_p.P1404P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1382					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.P1205P(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						TCCAACAGCCGCCTCGTTGCT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		16964	0.0		0.0	False		,,,				2504	0.001				p.P1205P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3615A	14						.						101.0	95.0	97.0					14																	94083572		2203	4300	6503	93153325	SO:0001819	synonymous_variant	57578	exon28			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.4146G>A	14.37:g.94083572G>A			93153325	NM_020818	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
PPP4R4	57718	broad.mit.edu	37	14	94674892	94674892	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:94674892C>T	ENST00000304338.3	+	3	437	c.283C>T	c.(283-285)Cca>Tca	p.P95S	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.P95S	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	95					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.P95S(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GAGAGTGTTGCCAAAAGTCAG	0.418																																					p.P95S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283T	14						.						72.0	70.0	71.0					14																	94674892		2203	4300	6503	93744645	SO:0001583	missense	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.283C>T	14.37:g.94674892C>T	ENSP00000305924:p.Pro95Ser		93744645	NM_020958	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223317	0.79464	.	.	ENSG00000119698	ENST00000556884;ENST00000304338;ENST00000328839;ENST00000553661;ENST00000556470	T;T	0.36878	1.23;1.26	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.061993	0.64402	D	0.000003	T	0.62295	0.2416	M	0.77820	2.39	0.46061	D	0.998843	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66512	-0.5905	10	0.72032	D	0.01	-12.5956	16.338	0.83073	0.0:1.0:0.0:0.0	.	95;95	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	S	14;95;95;14;14	ENSP00000305924:P95S;ENSP00000451556:P14S	ENSP00000305924:P95S	P	+	1	0	PPP4R4	93744645	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.231000	0.72307	2.470000	0.83445	0.491000	0.48974	CCA		0.418	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
PPP4R4	57718	broad.mit.edu	37	14	94718127	94718127	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:94718127T>G	ENST00000304338.3	+	16	1913	c.1759T>G	c.(1759-1761)Ttg>Gtg	p.L587V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	587					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.L587V(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACTTCGATTTTTGGATACCTG	0.284																																					p.L587V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1759G	14						.						54.0	60.0	58.0					14																	94718127		2200	4290	6490	93787880	SO:0001583	missense	57718	exon16			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.1759T>G	14.37:g.94718127T>G	ENSP00000305924:p.Leu587Val		93787880	NM_058237	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.981012	0.34942	.	.	ENSG00000119698	ENST00000304338	T	0.35236	1.32	5.72	4.57	0.56435	Armadillo-like helical (1);Armadillo-type fold (1);	0.063748	0.64402	D	0.000014	T	0.27205	0.0667	L	0.33792	1.035	0.80722	D	1	P	0.43607	0.812	B	0.41374	0.355	T	0.02238	-1.1190	10	0.17369	T	0.5	-7.5683	11.4951	0.50404	0.0:0.0705:0.0:0.9295	.	587	Q6NUP7	PP4R4_HUMAN	V	587	ENSP00000305924:L587V	ENSP00000305924:L587V	L	+	1	2	PPP4R4	93787880	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.166000	0.42406	0.987000	0.38709	0.379000	0.24179	TTG		0.284	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
DICER1	23405	broad.mit.edu	37	14	95569832	95569832	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:95569832A>T	ENST00000526495.1	-	23	4192	c.3901T>A	c.(3901-3903)Ttg>Atg	p.L1301M	DICER1_ENST00000343455.3_Missense_Mutation_p.L1301M|DICER1_ENST00000541352.1_Missense_Mutation_p.L1301M|DICER1_ENST00000527414.1_Missense_Mutation_p.L1301M|DICER1_ENST00000556045.1_Missense_Mutation_p.L199M|DICER1_ENST00000393063.1_Missense_Mutation_p.L1301M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1301	RNase III 1. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.L1301M(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GACAGAGTCAAAGCCTGAAGA	0.468			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.L1301M		yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3901A	14						.						82.0	80.0	80.0					14																	95569832		2203	4300	6503	94639585	SO:0001583	missense	23405	exon20	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3901T>A	14.37:g.95569832A>T	ENSP00000437256:p.Leu1301Met		94639585	NM_001195573	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.514978	0.64634	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92	5.33	-1.23	0.09465	Ribonuclease III (4);	0.000000	0.64402	D	0.000001	D	0.92941	0.7754	L	0.49256	1.55	0.48452	D	0.999655	D;D;P	0.76494	0.999;0.976;0.893	D;P;P	0.83275	0.996;0.894;0.8	D	0.89987	0.4105	10	0.46703	T	0.11	-10.9906	11.0259	0.47744	0.5717:0.0:0.4283:0.0	.	199;1301;1301	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	M	1301;1301;1301;1301;199;1301	ENSP00000343745:L1301M;ENSP00000437256:L1301M;ENSP00000376783:L1301M;ENSP00000435681:L1301M;ENSP00000451041:L199M;ENSP00000444719:L1301M	ENSP00000343745:L1301M	L	-	1	2	DICER1	94639585	0.099000	0.21834	0.993000	0.49108	0.995000	0.86356	-0.307000	0.08167	-0.166000	0.10890	0.402000	0.26972	TTG		0.468	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
DICER1	23405	broad.mit.edu	37	14	95577681	95577681	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:95577681C>T	ENST00000526495.1	-	16	2520	c.2229G>A	c.(2227-2229)acG>acA	p.T743T	DICER1_ENST00000343455.3_Silent_p.T743T|DICER1_ENST00000541352.1_Silent_p.T743T|DICER1_ENST00000527414.1_Silent_p.T743T|DICER1_ENST00000393063.1_Silent_p.T743T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	743					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.T743T(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCCTTCGTTTCGTGGAACCTG	0.418			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.T743T		yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2229A	14						.						307.0	278.0	288.0					14																	95577681		2203	4300	6503	94647434	SO:0001819	synonymous_variant	23405	exon13	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2229G>A	14.37:g.95577681C>T			94647434	NM_001195573	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.418	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
ATG2B	55102	broad.mit.edu	37	14	96779454	96779454	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:96779454T>C	ENST00000359933.4	-	25	4683	c.3790A>G	c.(3790-3792)Aca>Gca	p.T1264A	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1264					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.T1264A(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)		ACACTGAATGTTTCCACGGTA	0.383																																					p.T1264A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3790G	14						.						117.0	114.0	115.0					14																	96779454		2203	4300	6503	95849207	SO:0001583	missense	55102	exon25			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.3790A>G	14.37:g.96779454T>C	ENSP00000353010:p.Thr1264Ala		95849207	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876718	0.72180	.	.	ENSG00000066739	ENST00000359933	T	0.10192	2.9	6.01	6.01	0.97437	.	0.049335	0.85682	D	0.000000	T	0.19967	0.0480	M	0.63843	1.955	0.58432	D	0.999998	P	0.41710	0.76	P	0.45538	0.484	T	0.00317	-1.1822	10	0.44086	T	0.13	.	16.5237	0.84324	0.0:0.0:0.0:1.0	.	1264	Q96BY7	ATG2B_HUMAN	A	1264	ENSP00000353010:T1264A	ENSP00000353010:T1264A	T	-	1	0	ATG2B	95849207	1.000000	0.71417	0.903000	0.35520	0.079000	0.17450	7.449000	0.80643	2.306000	0.77630	0.533000	0.62120	ACA		0.383	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
ATG2B	55102	broad.mit.edu	37	14	96782958	96782958	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:96782958A>G	ENST00000359933.4	-	21	4166	c.3273T>C	c.(3271-3273)ggT>ggC	p.G1091G		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1091					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.G1091G(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)		AAAATAATGAACCACTATTGA	0.343																																					p.G1091G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3273C	14						.						105.0	98.0	101.0					14																	96782958		1848	4097	5945	95852711	SO:0001819	synonymous_variant	55102	exon21			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.3273T>C	14.37:g.96782958A>G			95852711	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	CCDS9944.2																																																																																				0.343	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
VRK1	7443	broad.mit.edu	37	14	97321648	97321648	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:97321648G>A	ENST00000216639.3	+	8	813	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D222N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AAGATGTCACGATGGCACTAT	0.423																																					p.D222N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664A	14						.						158.0	143.0	148.0					14																	97321648		2203	4300	6503	96391401	SO:0001583	missense	7443	exon8			AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.664G>A	14.37:g.97321648G>A	ENSP00000216639:p.Asp222Asn		96391401	NM_003384	Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	CCDS9947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.940491|1.940491	0.34283|0.34283	.|.	.|.	ENSG00000100749|ENSG00000100749	ENST00000216639|ENST00000557222;ENST00000557352	T|.	0.11604|.	2.76|.	6.05|6.05	6.05|6.05	0.98169|0.98169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.044592|.	0.85682|.	D|.	0.000000|.	T|T	0.17280|0.17280	0.0415|0.0415	N|N	0.00405|0.00405	-1.535|-1.535	0.80722|0.80722	D|D	1|1	P|.	0.46142|.	0.873|.	B|.	0.40506|.	0.331|.	T|T	0.38308|0.38308	-0.9667|-0.9667	10|5	0.05833|.	T|.	0.94|.	-30.7007|-30.7007	13.7612|13.7612	0.62968|0.62968	0.0697:0.0:0.9303:0.0|0.0697:0.0:0.9303:0.0	.|.	222|.	Q99986|.	VRK1_HUMAN|.	N|Q	222|78;3	ENSP00000216639:D222N|.	ENSP00000216639:D222N|.	D|R	+|+	1|2	0|0	VRK1|VRK1	96391401|96391401	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.980000|0.980000	0.70556|0.70556	6.812000|6.812000	0.75226|0.75226	2.866000|2.866000	0.98385|0.98385	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.423	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384	
EML1	2009	broad.mit.edu	37	14	100387145	100387145	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:100387145G>A	ENST00000262233.6	+	17	1979	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	EML1_ENST00000334192.4_Missense_Mutation_p.E633K|EML1_ENST00000327921.9_Missense_Mutation_p.E602K	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	614	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.E633K(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)				GTTTGACACAGAAACAAAAGA	0.348																																					p.E633K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1897A	14						.						128.0	120.0	122.0					14																	100387145		2203	4300	6503	99456898	SO:0001583	missense	2009	exon18			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.1840G>A	14.37:g.100387145G>A	ENSP00000262233:p.Glu614Lys		99456898	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115630	0.77323	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.39592	1.07;1.07;1.07	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.099244	0.64402	D	0.000002	T	0.54631	0.1870	M	0.66939	2.045	0.80722	D	1	P;B;P	0.50943	0.94;0.017;0.9	P;B;B	0.50440	0.641;0.016;0.39	T	0.61327	-0.7085	10	0.72032	D	0.01	-25.8371	18.4242	0.90604	0.0:0.0:1.0:0.0	.	602;614;633	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	K	602;614;633;633	ENSP00000327384:E602K;ENSP00000262233:E614K;ENSP00000334314:E633K	ENSP00000262233:E614K	E	+	1	0	EML1	99456898	1.000000	0.71417	0.911000	0.35937	0.996000	0.88848	9.250000	0.95477	2.415000	0.81967	0.655000	0.94253	GAA		0.348	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
MIR654	724024	broad.mit.edu	37	14	101507132	101507132	+	RNA	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:101507132C>A	ENST00000385199.1	+	0	81				MIR376C_ENST00000607441.1_RNA|MIR300_ENST00000401138.1_RNA|MIR1185-1_ENST00000408598.1_RNA|AL132709.2_ENST00000579587.1_RNA|MIR376A1_ENST00000584362.1_RNA	NR_030390.1				microRNA 654																		AAGGTAGATTCTCCTTCTATG	0.413																																					.												.	.	0			.	14						.						81.0	74.0	76.0					14																	101507132		1568	3582	5150	100576885			494325	.					14q32.31	2011-09-12		2008-12-18	ENSG00000207934	ENSG00000207934		"""ncRNAs / Micro RNAs"""	32910	non-coding RNA	RNA, micro				MIRN654			Standard	NR_030390		Approved	hsa-mir-654	uc021sda.1				14.37:g.101507132C>A			100576885	.		RNA	SNP	ENST00000385199.1	37																																																																																					0.413	MIR654-201	KNOWN	basic	miRNA	miRNA		NR_030390	
TECPR2	9895	broad.mit.edu	37	14	102900786	102900786	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr14:102900786C>T	ENST00000359520.7	+	9	1858	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P	TECPR2_ENST00000558678.1_Silent_p.P544P	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	544					autophagy (GO:0006914)|cell death (GO:0008219)			p.P544P(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						ATACTGACCCCGAAACGTTTA	0.493																																					p.P544P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1632T	14						.						91.0	94.0	93.0					14																	102900786		2203	4300	6503	101970539	SO:0001819	synonymous_variant	9895	exon9			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.1632C>T	14.37:g.102900786C>T			101970539	NM_014844	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	CCDS32162.1																																																																																				0.493	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
TUBGCP5	114791	broad.mit.edu	37	15	22842086	22842086	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:22842086G>A	ENST00000283645.4	+	6	655	c.525G>A	c.(523-525)caG>caA	p.Q175Q	TUBGCP5_ENST00000453949.2_Silent_p.Q175Q	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	175					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.Q175Q(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATGATCAACAGCCCTTAAGCA	0.363																																					p.Q175Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G525A	15						.						103.0	99.0	100.0					15																	22842086		2203	4300	6503	20393527	SO:0001819	synonymous_variant	114791	exon6			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.525G>A	15.37:g.22842086G>A			20393527	NM_052903	E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	CCDS10008.1																																																																																				0.363	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
TUBGCP5	114791	broad.mit.edu	37	15	22848960	22848960	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:22848960G>A	ENST00000283645.4	+	10	1137	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.G336E	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	336					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.G336E(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GAAGTCATGGGACACAGTTCT	0.483																																					p.G336E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007A	15						.						152.0	137.0	142.0					15																	22848960		2203	4300	6503	20400401	SO:0001583	missense	114791	exon10			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1007G>A	15.37:g.22848960G>A	ENSP00000283645:p.Gly336Glu		20400401	NM_052903	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	14.64	2.594642	0.46214	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.07327	3.2;3.2	5.55	3.63	0.41609	.	0.053889	0.64402	D	0.000001	T	0.19208	0.0461	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.01087	-1.1456	10	0.28530	T	0.3	-15.6472	10.6717	0.45762	0.0688:0.0:0.7989:0.1323	.	336;336	Q96RT8;E9PB12	GCP5_HUMAN;.	E	336	ENSP00000283645:G336E;ENSP00000409217:G336E	ENSP00000283645:G336E	G	+	2	0	TUBGCP5	20400401	1.000000	0.71417	0.647000	0.29507	0.433000	0.31745	9.249000	0.95470	0.771000	0.33359	0.655000	0.94253	GGA		0.483	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
UBE3A	7337	broad.mit.edu	37	15	25616577	25616577	+	Missense_Mutation	SNP	T	T	G	rs367996463		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:25616577T>G	ENST00000397954.2	-	4	752	c.753A>C	c.(751-753)aaA>aaC	p.K251N	UBE3A_ENST00000428984.2_Missense_Mutation_p.K228N|UBE3A_ENST00000232165.3_Missense_Mutation_p.K248N|UBE3A_ENST00000438097.1_Missense_Mutation_p.K228N|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.K228N			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	251					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.K251N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CAGTTTCAATTTTTTCATTAG	0.388																																					p.K248N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A744C	15						.						113.0	112.0	113.0					15																	25616577		2203	4300	6503	23167670	SO:0001583	missense	7337	exon6			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.753A>C	15.37:g.25616577T>G	ENSP00000381045:p.Lys251Asn		23167670	NM_130839	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	9.432	1.085897	0.20390	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.18016	2.24;2.24;2.25;2.25	5.84	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.25647	0.755	0.58432	D	0.999992	B;B	0.27732	0.187;0.003	B;B	0.29716	0.106;0.005	T	0.12837	-1.0532	10	0.12103	T	0.63	.	9.1142	0.36746	0.0:0.1579:0.0:0.8421	.	248;251	Q05086-3;Q05086	.;UBE3A_HUMAN	N	248;248;251;228;228	ENSP00000232165:K248N;ENSP00000381045:K251N;ENSP00000411258:K228N;ENSP00000401265:K228N	ENSP00000232165:K248N	K	-	3	2	UBE3A	23167670	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.726000	0.47302	0.989000	0.38761	0.482000	0.46254	AAA		0.388	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
ATP10A	57194	broad.mit.edu	37	15	26026211	26026211	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:26026211C>T	ENST00000356865.6	-	2	720	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	203					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.E203E(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)		TCAGGTTGGTCTCTCCATCCA	0.607																																					p.E203E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G609A	15						.						82.0	82.0	82.0					15																	26026211		2203	4300	6503	23577304	SO:0001819	synonymous_variant	57194	exon2			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.609G>A	15.37:g.26026211C>T			23577304	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
GABRG3	2567	broad.mit.edu	37	15	27725865	27725865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:27725865C>A	ENST00000333743.6	+	6	898	c.644C>A	c.(643-645)tCa>tAa	p.S215*	RP11-100M12.3_ENST00000556642.1_RNA|GABRG3_ENST00000555083.1_Nonsense_Mutation_p.S215*	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	215					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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.S215*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	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)|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)	GACCAGAAATCATGGCGGCTT	0.423																																					p.S215X	NSCLC(114;800 1656 7410 37729 45293)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C644A	15						.						45.0	49.0	48.0					15																	27725865		1885	4110	5995	25399460	SO:0001587	stop_gained	2567	exon6				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.644C>A	15.37:g.27725865C>A	ENSP00000331912:p.Ser215*		25399460	NM_033223	G3V594|Q9HD46|Q9NYT2	Nonsense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537124	0.85812	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	.	.	.	5.55	5.55	0.83447	.	0.259072	0.39985	N	0.001207	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.5368	0.91013	0.0:1.0:0.0:0.0	.	.	.	.	X	215;215;157	.	ENSP00000331912:S215X	S	+	2	0	GABRG3	25399460	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	4.566000	0.60843	2.621000	0.88768	0.558000	0.71614	TCA		0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		
OCA2	4948	broad.mit.edu	37	15	28117030	28117030	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:28117030T>C	ENST00000354638.3	-	20	2273	c.2118A>G	c.(2116-2118)gaA>gaG	p.E706E	OCA2_ENST00000353809.5_Silent_p.E682E	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	706					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.E706E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAGCAGTTTGTTCTCCAACAT	0.318									Oculocutaneous Albinism																												p.E706E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2118G	15						.						114.0	119.0	117.0					15																	28117030		2203	4300	6503	25790625	SO:0001819	synonymous_variant	4948	exon20	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2118A>G	15.37:g.28117030T>C			25790625	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	CCDS10020.1																																																																																				0.318	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
HERC2	8924	broad.mit.edu	37	15	28525289	28525289	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:28525289C>A	ENST00000261609.7	-	5	575	c.467G>T	c.(466-468)aGa>aTa	p.R156I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R156I(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)		AAAAACGGTTCTATTCAAGGC	0.493																																					p.R156I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G467T	15						.						119.0	113.0	115.0					15																	28525289		2203	4300	6503	26198884	SO:0001583	missense	8924	exon5			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.467G>T	15.37:g.28525289C>A	ENSP00000261609:p.Arg156Ile		26198884	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042209	0.75732	.	.	ENSG00000128731	ENST00000261609	T	0.46063	0.88	5.46	5.46	0.80206	.	0.134583	0.49305	D	0.000141	T	0.46814	0.1412	M	0.67397	2.05	0.58432	D	0.99999	P	0.41041	0.736	B	0.38803	0.282	T	0.52056	-0.8626	10	0.54805	T	0.06	.	19.3152	0.94208	0.0:1.0:0.0:0.0	.	156	O95714	HERC2_HUMAN	I	156	ENSP00000261609:R156I	ENSP00000261609:R156I	R	-	2	0	HERC2	26198884	1.000000	0.71417	0.904000	0.35570	0.980000	0.70556	5.578000	0.67450	2.561000	0.86390	0.650000	0.86243	AGA		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
CHRFAM7A	89832	broad.mit.edu	37	15	30659720	30659720	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:30659720G>A	ENST00000299847.2	-	9	1074	c.621C>T	c.(619-621)ttC>ttT	p.F207F	CHRFAM7A_ENST00000397827.3_Silent_p.F116F|CHRFAM7A_ENST00000401522.3_Silent_p.F116F	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	207						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)	p.F207F(1)		large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGGTGCTGGCGAAGTACTGGG	0.622																																					p.F207F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	15						.						110.0	91.0	98.0					15																	30659720		2190	4286	6476	28447012	SO:0001819	synonymous_variant	89832	exon9			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.621C>T	15.37:g.30659720G>A			28447012	NM_139320	A8KAB9	Silent	SNP	ENST00000299847.2	37	CCDS32184.1																																																																																				0.622	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911	
TRPM1	4308	broad.mit.edu	37	15	31294401	31294401	+	Missense_Mutation	SNP	C	C	T	rs111649153	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:31294401C>T	ENST00000256552.6	-	28	4649	c.4502G>A	c.(4501-4503)cGc>cAc	p.R1501H	TRPM1_ENST00000397795.2_Missense_Mutation_p.R1479H|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1518H|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R1479H(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)		GCTATGAGAGCGCGTGATCTT	0.473													C|||	13	0.00259585	0.0098	0.0	5008	,	,		22571	0.0		0.0	False		,,,				2504	0.0				p.R1479H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4436A	15						.	C	HIS/ARG	39,4011		0,39,1986	227.0	209.0	214.0		4436	4.2	0.2	15	dbSNP_132	214	0,8364		0,0,4182	yes	missense	TRPM1	NM_002420.4	29	0,39,6168	TT,TC,CC		0.0,0.963,0.3142	possibly-damaging	1479/1604	31294401	39,12375	2025	4182	6207	29081693	SO:0001583	missense	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.4502G>A	15.37:g.31294401C>T	ENSP00000256552:p.Arg1501His		29081693	NM_002420		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	13.20	2.165301	0.38217	0.00963	0.0	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.55930	0.5;0.49;0.51	5.13	4.2	0.49525	.	0.821862	0.10789	N	0.633920	T	0.44095	0.1277	L	0.29908	0.895	0.19945	N	0.999941	D;P	0.54207	0.965;0.941	P;P	0.54100	0.742;0.454	T	0.33266	-0.9875	10	0.56958	D	0.05	-15.0094	8.9071	0.35530	0.0:0.7727:0.1471:0.0802	.	1473;1479	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	1479;1518;1501;1479	ENSP00000380897:R1479H;ENSP00000437849:R1518H;ENSP00000256552:R1501H	ENSP00000256552:R1501H	R	-	2	0	TRPM1	29081693	0.049000	0.20398	0.153000	0.22517	0.866000	0.49608	0.448000	0.21726	2.396000	0.81511	0.558000	0.71614	CGC		0.473	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
TRPM1	4308	broad.mit.edu	37	15	31294996	31294996	+	Nonsense_Mutation	SNP	C	C	A	rs117855013	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:31294996C>A	ENST00000256552.6	-	28	4054	c.3907G>T	c.(3907-3909)Gag>Tag	p.E1303*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E1281*|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.E1320*|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.E1281*(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)		AATAATAACTCTTCTCCGTTA	0.453																																					p.E1281X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3841T	15						.						80.0	77.0	78.0					15																	31294996		1973	4168	6141	29082288	SO:0001587	stop_gained	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.3907G>T	15.37:g.31294996C>A	ENSP00000256552:p.Glu1303*		29082288	NM_002420		Nonsense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	43	10.450519	0.99407	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.9845	18.2341	0.89944	0.0:1.0:0.0:0.0	.	.	.	.	X	1281;1320;1303;1281	.	ENSP00000256552:E1303X	E	-	1	0	TRPM1	29082288	1.000000	0.71417	0.183000	0.23137	0.957000	0.61999	7.284000	0.78650	2.293000	0.77203	0.650000	0.86243	GAG		0.453	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
TRPM1	4308	broad.mit.edu	37	15	31329943	31329943	+	Missense_Mutation	SNP	C	C	T	rs376766834		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:31329943C>T	ENST00000256552.6	-	20	2689	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	TRPM1_ENST00000397795.2_Missense_Mutation_p.A826T|TRPM1_ENST00000542188.1_Missense_Mutation_p.A865T|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.A826T(2)|p.A826S(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)		ACAATGGGCGCGTTATAGAAT	0.408																																					p.A826T												.	.	3	Substitution - Missense(3)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	c.G2476A	15						.	C	THR/ALA	0,3804		0,0,1902	162.0	148.0	153.0		2476	4.9	0.5	15		153	1,8247		0,1,4123	no	missense	TRPM1	NM_002420.4	58	0,1,6025	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	826/1604	31329943	1,12051	1902	4124	6026	29117235	SO:0001583	missense	4308	exon19			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.2542G>A	15.37:g.31329943C>T	ENSP00000256552:p.Ala848Thr		29117235	NM_002420		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560965	0.65538	0.0	1.21E-4	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.75050	-0.9;-0.9;-0.9	4.88	4.88	0.63580	.	0.054439	0.64402	D	0.000001	D	0.89343	0.6688	M	0.91038	3.17	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.91873	0.5509	10	0.87932	D	0	-22.2577	18.4281	0.90615	0.0:1.0:0.0:0.0	.	820;826	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	T	826;865;848;826	ENSP00000380897:A826T;ENSP00000437849:A865T;ENSP00000256552:A848T	ENSP00000256552:A848T	A	-	1	0	TRPM1	29117235	1.000000	0.71417	0.520000	0.27837	0.230000	0.25150	6.039000	0.70972	2.420000	0.82092	0.655000	0.94253	GCG		0.408	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
TRPM1	4308	broad.mit.edu	37	15	31341662	31341662	+	Silent	SNP	G	G	A	rs373134893		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:31341662G>A	ENST00000256552.6	-	13	1635	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	TRPM1_ENST00000397795.2_Silent_p.V474V|TRPM1_ENST00000542188.1_Silent_p.V513V	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.V474V(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)		TCACAAAGTCGACACGATCTA	0.502																																					p.V474V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1422T	15						.	G		2,3920		0,2,1959	124.0	118.0	120.0		1422	-10.3	0.2	15		120	0,8326		0,0,4163	no	coding-synonymous	TRPM1	NM_002420.4		0,2,6122	AA,AG,GG		0.0,0.051,0.0163		474/1604	31341662	2,12246	1961	4163	6124	29128954	SO:0001819	synonymous_variant	4308	exon12			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.1488C>T	15.37:g.31341662G>A			29128954	NM_002420		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.502	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
TRPM1	4308	broad.mit.edu	37	15	31354787	31354787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:31354787C>A	ENST00000256552.6	-	9	1231	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E340*|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.E379*|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.E340*(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)		CTTACGAGTTCTTTCTTCTTC	0.368																																					p.E340X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1018T	15						.						142.0	129.0	133.0					15																	31354787		1843	4093	5936	29142079	SO:0001587	stop_gained	4308	exon8			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.1084G>T	15.37:g.31354787C>A	ENSP00000256552:p.Glu362*		29142079	NM_002420		Nonsense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	40	8.452253	0.98817	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	5.72	5.72	0.89469	.	0.349090	0.35407	N	0.003233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-18.6014	19.8968	0.96969	0.0:1.0:0.0:0.0	.	.	.	.	X	340;379;362;340	.	ENSP00000256552:E362X	E	-	1	0	TRPM1	29142079	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	GAA		0.368	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
ARHGAP11A	9824	broad.mit.edu	37	15	32928050	32928050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:32928050C>T	ENST00000361627.3	+	11	2139	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.R284*|ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.R473*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.R445*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.R284*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	473					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.R473*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTTAAAAAATCGAATTGAATC	0.313																																					p.R473X	Colon(45;757 1134 30003 36652)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1417T	15						.						68.0	67.0	67.0					15																	32928050		2201	4298	6499	30715342	SO:0001587	stop_gained	9824	exon11			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1417C>T	15.37:g.32928050C>T	ENSP00000355090:p.Arg473*		30715342	NM_199357	B4DZN9|Q6PI96|Q9Y3S6	Nonsense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	40	8.363373	0.98779	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	.	.	.	6.06	2.5	0.30297	.	0.391477	0.24796	N	0.035522	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4595	0.16610	0.4561:0.2615:0.2824:0.0	.	.	.	.	X	473;284	.	ENSP00000355090:R473X	R	+	1	2	ARHGAP11A	30715342	0.007000	0.16637	0.326000	0.25389	0.574000	0.36063	0.426000	0.21363	0.187000	0.20147	-0.275000	0.10095	CGA		0.313	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
FMN1	342184	broad.mit.edu	37	15	33091137	33091137	+	Missense_Mutation	SNP	C	C	T	rs374934202		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:33091137C>T	ENST00000559047.1	-	16	3997	c.3998G>A	c.(3997-3999)cGa>cAa	p.R1333Q	FMN1_ENST00000334528.9_Missense_Mutation_p.R1110Q|FMN1_ENST00000561249.1_Missense_Mutation_p.R1235Q			Q68DA7	FMN1_HUMAN	formin 1	1333	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1110Q(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)		CCCAAAATATCGTACTGTTGT	0.453																																					p.R1110Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3329A	15						.	C	GLN/ARG	0,3752		0,0,1876	73.0	65.0	68.0		3329	4.0	0.8	15		68	1,8243		0,1,4121	no	missense	FMN1	NM_001103184.2	43	0,1,5997	TT,TC,CC		0.0121,0.0,0.0083	benign	1110/1197	33091137	1,11995	1876	4122	5998	30878429	SO:0001583	missense	342184	exon15			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.3998G>A	15.37:g.33091137C>T	ENSP00000454047:p.Arg1333Gln		30878429	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	9.548	1.115273	0.20795	0.0	1.21E-4	ENSG00000248905	ENST00000334528	T	0.17370	2.28	5.86	3.99	0.46301	.	0.550760	0.21334	N	0.076259	T	0.12689	0.0308	L	0.32530	0.975	.	.	.	B	0.24258	0.1	B	0.09377	0.004	T	0.09773	-1.0659	9	0.36615	T	0.2	.	10.4573	0.44559	0.0:0.7928:0.0:0.2072	.	1110	Q68DA7-5	.	Q	1110	ENSP00000333950:R1110Q	ENSP00000333950:R1110Q	R	-	2	0	FMN1	30878429	0.143000	0.22626	0.832000	0.32986	0.987000	0.75469	0.336000	0.19823	0.825000	0.34637	-0.150000	0.13652	CGA		0.453	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
RYR3	6263	broad.mit.edu	37	15	33916126	33916126	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:33916126G>T	ENST00000389232.4	+	20	2546	c.2476G>T	c.(2476-2478)Gaa>Taa	p.E826*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E826*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	826					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.E826*(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)		GCCTGTCAAAGAATATAAACG	0.493																																					p.E826X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2476T	15						.						166.0	161.0	163.0					15																	33916126		1886	4123	6009	31703418	SO:0001587	stop_gained	6263	exon20				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.2476G>T	15.37:g.33916126G>T	ENSP00000373884:p.Glu826*		31703418	NM_001036	O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	42	9.468595	0.99180	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	4.86	4.86	0.63082	.	0.062950	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.1617	0.89710	0.0:0.0:1.0:0.0	.	.	.	.	X	826	.	ENSP00000354735:E826X	E	+	1	0	RYR3	31703418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.548000	0.98103	2.521000	0.84997	0.563000	0.77884	GAA		0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34064243	34064243	+	Missense_Mutation	SNP	G	G	A	rs200346049		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:34064243G>A	ENST00000389232.4	+	63	9009	c.8939G>A	c.(8938-8940)cGa>cAa	p.R2980Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R2980Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2980					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.R2980Q(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)		ACCCATTCCCGAACGCAGATT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19794	0.001		0.0	False		,,,				2504	0.0				p.R2980Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8939A	15						.						89.0	82.0	84.0					15																	34064243		1887	4112	5999	31851535	SO:0001583	missense	6263	exon63				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.8939G>A	15.37:g.34064243G>A	ENSP00000373884:p.Arg2980Gln		31851535	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.5	4.533505	0.85812	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97553	-4.43;-4.43	5.65	5.65	0.86999	.	0.129520	0.52532	D	0.000066	D	0.98375	0.9460	M	0.75615	2.305	0.54753	D	0.999982	D;D	0.89917	0.998;1.0	P;D	0.87578	0.857;0.998	D	0.98718	1.0707	10	0.66056	D	0.02	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	2980;2980	Q15413-2;Q15413	.;RYR3_HUMAN	Q	2980	ENSP00000373884:R2980Q;ENSP00000399610:R2980Q	ENSP00000354735:R2980Q	R	+	2	0	RYR3	31851535	1.000000	0.71417	0.999000	0.59377	0.685000	0.39939	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	CGA		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34135746	34135746	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:34135746G>A	ENST00000389232.4	+	92	13337	c.13267G>A	c.(13267-13269)Gct>Act	p.A4423T	RYR3_ENST00000415757.3_Missense_Mutation_p.A4418T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4423					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.A4422T(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)		TGTAGCCTTCGCTATCAACTT	0.398																																					p.A4423T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13267A	15						.						115.0	100.0	105.0					15																	34135746		1842	4105	5947	31923038	SO:0001583	missense	6263	exon92				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.13267G>A	15.37:g.34135746G>A	ENSP00000373884:p.Ala4423Thr		31923038	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376465	0.95945	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.95205	-3.64	5.08	5.08	0.68730	Ryanodine Receptor TM 4-6 (1);	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.96415	0.9307	10	0.45353	T	0.12	.	19.0333	0.92967	0.0:0.0:1.0:0.0	.	4418;4423	Q15413-2;Q15413	.;RYR3_HUMAN	T	4423;4419	ENSP00000373884:A4423T	ENSP00000354735:A4419T	A	+	1	0	RYR3	31923038	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.507000	0.97996	2.793000	0.96121	0.655000	0.94253	GCT		0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34145777	34145777	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:34145777C>A	ENST00000389232.4	+	96	13763	c.13693C>A	c.(13693-13695)Ctc>Atc	p.L4565I	RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.L4560I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4565					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.L4564I(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)		GTATGGAGATCTCTACGGAGC	0.488																																					p.L4565I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13693A	15						.						69.0	70.0	70.0					15																	34145777		1961	4164	6125	31933069	SO:0001583	missense	6263	exon96				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.13693C>A	15.37:g.34145777C>A	ENSP00000373884:p.Leu4565Ile		31933069	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728812	0.48833	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.91894	-2.93	4.61	4.61	0.57282	.	0.079348	0.51477	D	0.000098	D	0.89979	0.6872	N	0.17082	0.46	0.40982	D	0.984784	D;D	0.67145	0.996;0.972	D;P	0.71656	0.974;0.867	D	0.86197	0.1616	10	0.19147	T	0.46	.	9.1455	0.36930	0.0:0.8655:0.0:0.1345	.	4560;4565	Q15413-2;Q15413	.;RYR3_HUMAN	I	4565;4561	ENSP00000373884:L4565I	ENSP00000354735:L4561I	L	+	1	0	RYR3	31933069	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	2.300000	0.43620	2.538000	0.85594	0.655000	0.94253	CTC		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
EMC7	56851	broad.mit.edu	37	15	34376568	34376568	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:34376568T>G	ENST00000256545.4	-	5	804	c.696A>C	c.(694-696)aaA>aaC	p.K232N		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	232						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.K232N(1)									TTTTGCCTGTTTTACTGCTGC	0.478																																					p.K232N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A696C	15						.						121.0	101.0	108.0					15																	34376568		2201	4298	6499	32163860	SO:0001583	missense	56851	exon5			AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.696A>C	15.37:g.34376568T>G	ENSP00000256545:p.Lys232Asn		32163860	NM_020154	B2RC00|Q96ED5	Missense_Mutation	SNP	ENST00000256545.4	37	CCDS10032.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	15.84|15.84|15.84	2.951735|2.951735|2.951735	0.53186|0.53186|0.53186	.|.|.	.|.|.	ENSG00000134153|ENSG00000134153|ENSG00000134153	ENST00000256545|ENST00000528949|ENST00000527822	.|.|.	.|.|.	.|.|.	5.19|5.19|5.19	4.05|4.05|4.05	0.47172|0.47172|0.47172	.|.|.	0.143577|0.143577|.	0.64402|0.64402|.	D|D|.	0.000006|0.000006|.	T|T|T	0.62636|0.62636|0.62636	0.2444|0.2444|0.2444	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.49213|0.49213|0.49213	D|D|D	0.999763|0.999763|0.999763	P|.|.	0.41313|.|.	0.745|.|.	B|.|.	0.38056|.|.	0.264|.|.	T|T|T	0.61207|0.61207|0.61207	-0.7109|-0.7109|-0.7109	9|7|5	0.29301|0.41790|.	T|T|.	0.29|0.15|.	-8.4673|-8.4673|-8.4673	11.1935|11.1935|11.1935	0.48698|0.48698|0.48698	0.0:0.0823:0.0:0.9177|0.0:0.0823:0.0:0.9177|0.0:0.0823:0.0:0.9177	.|.|.	232|.|.	Q9NPA0|.|.	CO024_HUMAN|.|.	N|T|H	232|168|182	.|.|.	ENSP00000256545:K232N|ENSP00000434496:K168T|.	K|K|N	-|-|-	3|2|1	2|0|0	C15orf24|C15orf24|C15orf24	32163860|32163860|32163860	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	4.092000|4.092000|4.092000	0.57707|0.57707|0.57707	2.176000|2.176000|2.176000	0.68965|0.68965|0.68965	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	AAA|AAA|AAC		0.478	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154	
AQR	9716	broad.mit.edu	37	15	35236512	35236512	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:35236512G>T	ENST00000156471.5	-	6	673	c.448C>A	c.(448-450)Ctt>Att	p.L150I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	150					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L150I(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAATGATCAAGAAAAAGTAGT	0.328																																					p.L150I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C448A	15						.						198.0	192.0	194.0					15																	35236512		1813	4087	5900	33023804	SO:0001583	missense	9716	exon6			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.448C>A	15.37:g.35236512G>T	ENSP00000156471:p.Leu150Ile		33023804	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499706	0.64298	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.95690	-3.78	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	L	0.52905	1.665	0.54753	D	0.99998	B	0.29766	0.256	B	0.28553	0.091	D	0.90009	0.4120	10	0.26408	T	0.33	-16.7519	12.35	0.55143	0.0768:0.0:0.9232:0.0	.	150	O60306	AQR_HUMAN	I	150	ENSP00000156471:L150I	ENSP00000156471:L150I	L	-	1	0	AQR	33023804	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.913000	0.63341	2.471000	0.83476	0.655000	0.94253	CTT		0.328	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
RASGRP1	10125	broad.mit.edu	37	15	38791088	38791088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:38791088G>A	ENST00000310803.5	-	15	1957	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.R546*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.R559*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.R645*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.R559*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	594					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.R594*(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)		TTCTTGGCTCGCTTCTTACAC	0.478																																					p.R594X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1780T	15						.						243.0	237.0	239.0					15																	38791088		1900	4122	6022	36578380	SO:0001587	stop_gained	10125	exon15			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.1780C>T	15.37:g.38791088G>A	ENSP00000310244:p.Arg594*		36578380	NM_005739	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Nonsense_Mutation	SNP	ENST00000310803.5	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500032	0.96355	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000539159	.	.	.	5.09	3.03	0.35002	.	0.111428	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3742	11.7464	0.51821	0.0:0.0:0.4653:0.5347	.	.	.	.	X	594;559;559;546	.	ENSP00000310244:R594X	R	-	1	2	RASGRP1	36578380	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.868000	0.48436	1.461000	0.47929	0.655000	0.94253	CGA		0.478	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	
BUB1B	701	broad.mit.edu	37	15	40512795	40512795	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:40512795C>A	ENST00000287598.6	+	23	3183	c.2988C>A	c.(2986-2988)ttC>ttA	p.F996L	PAK6_ENST00000453867.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.F1010L|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	996	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|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)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F996L(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGAATAAATTCTTTGTGCGGA	0.358			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																												p.F996L		yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2988A	15						.						109.0	111.0	111.0					15																	40512795		2203	4300	6503	38300087	SO:0001583	missense	701	exon23	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2988C>A	15.37:g.40512795C>A	ENSP00000287598:p.Phe996Leu		38300087	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301630	0.60195	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.14144	2.54;2.53	5.96	5.04	0.67666	.	0.063133	0.64402	N	0.000003	T	0.09598	0.0236	L	0.41824	1.3	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.08680	-1.0710	10	0.02654	T	1	-8.1168	9.8247	0.40905	0.0:0.8582:0.0:0.1418	.	996	O60566	BUB1B_HUMAN	L	996;1010;879	ENSP00000287598:F996L;ENSP00000398470:F1010L	ENSP00000287598:F996L	F	+	3	2	BUB1B	38300087	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.467000	0.35321	2.832000	0.97577	0.655000	0.94253	TTC		0.358	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		
CASC5	57082	broad.mit.edu	37	15	40907561	40907561	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:40907561T>C	ENST00000346991.5	+	9	775	c.385T>C	c.(385-387)Tac>Cac	p.Y129H	CASC5_ENST00000527044.1_Missense_Mutation_p.Y101H|RN7SL376P_ENST00000578594.1_RNA|CASC5_ENST00000399668.2_Missense_Mutation_p.Y103H			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	129	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Y129H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGAAGATAATTACTGTGAAAT	0.274																																					p.Y129H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T385C	15						.						27.0	26.0	26.0					15																	40907561		1772	4044	5816	38694853	SO:0001583	missense	57082	exon9			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.385T>C	15.37:g.40907561T>C	ENSP00000335463:p.Tyr129His		38694853	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	T	2.079	-0.411078	0.04799	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000527044;ENST00000399668	T;T;T	0.45276	3.48;1.49;0.9	4.71	1.08	0.20341	.	1.045460	0.07576	N	0.919369	T	0.23370	0.0565	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.002;0.003	T	0.25745	-1.0123	10	0.14656	T	0.56	.	2.119	0.03721	0.4786:0.2404:0.0:0.281	.	103;129;103	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	H	129;103;101;103	ENSP00000335463:Y129H;ENSP00000432654:Y101H;ENSP00000382576:Y103H	ENSP00000260369:Y103H	Y	+	1	0	CASC5	38694853	0.480000	0.25933	0.269000	0.24586	0.511000	0.34104	0.422000	0.21296	-0.079000	0.12707	-0.757000	0.03467	TAC		0.274	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
RAD51	5888	broad.mit.edu	37	15	41023337	41023337	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:41023337C>T	ENST00000267868.3	+	10	1249	c.981C>T	c.(979-981)ttC>ttT	p.F327F	RAD51_ENST00000382643.3_Silent_p.F328F|RAD51_ENST00000557850.1_Silent_p.F230F|RAD51_ENST00000530766.1_3'UTR|RAD51_ENST00000532743.1_Silent_p.F328F|RAD51_ENST00000423169.2_3'UTR	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	327					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.F327F(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AAGCTATGTTCGCCATTAATG	0.453								Homologous recombination																													p.F327F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C981T	15						.						142.0	129.0	133.0					15																	41023337		2203	4300	6503	38810629	SO:0001819	synonymous_variant	5888	exon10			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.981C>T	15.37:g.41023337C>T			38810629	NM_002875	B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Silent	SNP	ENST00000267868.3	37	CCDS10062.1																																																																																				0.453	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487	
EXD1	161829	broad.mit.edu	37	15	41476307	41476307	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:41476307T>G	ENST00000314992.5	-	10	1557	c.1367A>C	c.(1366-1368)aAg>aCg	p.K456T	EXD1_ENST00000458580.2_Missense_Mutation_p.K514T	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	456							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.K456T(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TAAATCTTCCTTGTTTTCCAC	0.373																																					p.K456T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1367C	15						.						180.0	163.0	169.0					15																	41476307		2203	4300	6503	39263599	SO:0001583	missense	161829	exon10			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1367A>C	15.37:g.41476307T>G	ENSP00000321029:p.Lys456Thr		39263599	NM_152596	A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.538118	0.27475	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.55052	0.54;0.58	5.35	4.21	0.49690	.	0.197262	0.42548	D	0.000695	T	0.46639	0.1403	L	0.56769	1.78	0.09310	N	1	B;B;P	0.34724	0.001;0.006;0.465	B;B;B	0.32583	0.003;0.007;0.148	T	0.49303	-0.8954	10	0.87932	D	0	-18.0844	9.4954	0.38984	0.0:0.0:0.178:0.822	.	514;456;254	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	T	456;514	ENSP00000321029:K456T;ENSP00000415056:K514T	ENSP00000321029:K456T	K	-	2	0	EXD1	39263599	0.107000	0.21998	0.009000	0.14445	0.486000	0.33341	1.489000	0.35562	1.137000	0.42214	0.533000	0.62120	AAG		0.373	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	
MGA	23269	broad.mit.edu	37	15	42021423	42021423	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:42021423G>A	ENST00000570161.1	+	10	3719	c.3719G>A	c.(3718-3720)cGa>cAa	p.R1240Q	MGA_ENST00000566586.1_Missense_Mutation_p.R1240Q|MGA_ENST00000219905.7_Missense_Mutation_p.R1240Q|MGA_ENST00000389936.4_Missense_Mutation_p.R1240Q|MGA_ENST00000545763.1_Missense_Mutation_p.R1240Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1240Q(1)		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)	ACTTGTGCTCGAGTTCGAGTA	0.413																																					p.R1240Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3719A	15						.						94.0	95.0	95.0					15																	42021423		1906	4123	6029	39808715	SO:0001583	missense	23269	exon11			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.3719G>A	15.37:g.42021423G>A	ENSP00000457035:p.Arg1240Gln		39808715	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384142	0.95967	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.90133	-2.56;-2.62;-2.42	5.65	5.65	0.86999	.	0.256160	0.25604	N	0.029527	D	0.93122	0.7810	L	0.32530	0.975	0.38666	D	0.952193	D;D	0.89917	0.999;1.0	D;D	0.79108	0.99;0.992	D	0.94115	0.7374	10	0.87932	D	0	.	20.0781	0.97751	0.0:0.0:1.0:0.0	.	1240;1240	F5H7K2;E7ENI0	.;.	Q	1240	ENSP00000219905:R1240Q;ENSP00000374586:R1240Q;ENSP00000442467:R1240Q	ENSP00000219905:R1240Q	R	+	2	0	MGA	39808715	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.527000	0.81931	2.817000	0.96982	0.563000	0.77884	CGA		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MGA	23269	broad.mit.edu	37	15	42028648	42028648	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:42028648A>G	ENST00000570161.1	+	12	4186	c.4186A>G	c.(4186-4188)Aaa>Gaa	p.K1396E	MGA_ENST00000566586.1_Missense_Mutation_p.K1396E|MGA_ENST00000219905.7_Missense_Mutation_p.K1396E|MGA_ENST00000389936.4_Missense_Mutation_p.K1396E|MGA_ENST00000545763.1_Missense_Mutation_p.K1396E			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.K1396E(1)		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)	TTCTCGTGTGAAAATCTCTAT	0.468																																					p.K1396E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4186G	15						.						66.0	65.0	65.0					15																	42028648		1882	4110	5992	39815940	SO:0001583	missense	23269	exon13			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.4186A>G	15.37:g.42028648A>G	ENSP00000457035:p.Lys1396Glu		39815940	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540677	0.85917	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;D	0.88354	2.34;2.34;-2.37	5.82	5.82	0.92795	.	0.966831	0.08517	N	0.934026	D	0.91606	0.7348	N	0.24115	0.695	0.36304	D	0.857196	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.985	D	0.89163	0.3531	10	0.87932	D	0	.	16.1758	0.81851	1.0:0.0:0.0:0.0	.	1396;1396	F5H7K2;E7ENI0	.;.	E	1396	ENSP00000219905:K1396E;ENSP00000374586:K1396E;ENSP00000442467:K1396E	ENSP00000219905:K1396E	K	+	1	0	MGA	39815940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.860000	0.75473	2.225000	0.72522	0.477000	0.44152	AAA		0.468	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MAPKBP1	23005	broad.mit.edu	37	15	42106899	42106899	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:42106899T>G	ENST00000456763.2	+	11	1346	c.1150T>G	c.(1150-1152)Tcg>Gcg	p.S384A	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S378A|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.S266A|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.S378A	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	384								p.S378A(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)		CAAGGTGTACTCGGCTCTGTA	0.517																																					p.S378A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1132G	15						.						274.0	241.0	252.0					15																	42106899		2203	4300	6503	39894191	SO:0001583	missense	23005	exon10			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.1150T>G	15.37:g.42106899T>G	ENSP00000393099:p.Ser384Ala		39894191	NM_014994	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	t	35	5.479773	0.96307	.	.	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.54279	0.83;0.58;4.97;4.97	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054356	0.85682	D	0.000000	T	0.69646	0.3134	L	0.58810	1.83	0.58432	D	0.999999	D;P;P;P	0.67145	0.996;0.923;0.76;0.741	D;P;P;P	0.77557	0.99;0.69;0.573;0.621	T	0.69840	-0.5036	10	0.51188	T	0.08	-9.0591	16.6165	0.84917	0.0:0.0:0.0:1.0	.	266;378;384;378	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	A	378;266;384;378	ENSP00000397570:S378A;ENSP00000260357:S266A;ENSP00000393099:S384A;ENSP00000426154:S378A	ENSP00000260357:S266A	S	+	1	0	MAPKBP1	39894191	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.019000	0.88732	2.323000	0.78572	0.529000	0.55759	TCG		0.517	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
EHD4	30844	broad.mit.edu	37	15	42201933	42201933	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:42201933A>C	ENST00000220325.4	-	5	1136	c.1053T>G	c.(1051-1053)atT>atG	p.I351M		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	351					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.I351M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCCCTGCAGAAATCTGGTATT	0.507																																					p.I351M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1053G	15						.						206.0	193.0	197.0					15																	42201933		2203	4299	6502	39989225	SO:0001583	missense	30844	exon5			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1053T>G	15.37:g.42201933A>C	ENSP00000220325:p.Ile351Met		39989225	NM_139265	Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414901	0.83449	.	.	ENSG00000103966	ENST00000220325	T	0.23348	1.91	6.04	-6.34	0.01982	.	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	M	0.85197	2.74	0.58432	D	0.999999	P	0.47545	0.897	P	0.45681	0.49	T	0.37384	-0.9708	10	0.49607	T	0.09	-8.8433	7.0481	0.25056	0.3499:0.0893:0.4731:0.0877	.	351	Q9H223	EHD4_HUMAN	M	351	ENSP00000220325:I351M	ENSP00000220325:I351M	I	-	3	3	EHD4	39989225	0.997000	0.39634	0.920000	0.36463	0.995000	0.86356	0.481000	0.22260	-0.978000	0.03533	0.459000	0.35465	ATT		0.507	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
VPS39	23339	broad.mit.edu	37	15	42454281	42454281	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:42454281C>A	ENST00000348544.4	-	24	2441	c.2442G>T	c.(2440-2442)aaG>aaT	p.K814N	VPS39_ENST00000318006.5_Missense_Mutation_p.K803N			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	814					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.K803N(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAACCGTTTCTTTTGTGCAT	0.453																																					p.K803N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2409T	15						.						189.0	169.0	176.0					15																	42454281		2203	4299	6502	40241573	SO:0001583	missense	23339	exon23			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2442G>T	15.37:g.42454281C>A	ENSP00000335193:p.Lys814Asn		40241573	NM_015289	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406141	0.42715	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.43688	0.94;0.94	5.1	3.22	0.36961	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.161352	0.56097	D	0.000026	T	0.30135	0.0755	L	0.38531	1.155	0.44048	D	0.996786	B;B	0.22541	0.071;0.021	B;B	0.26310	0.053;0.068	T	0.05053	-1.0909	10	0.17369	T	0.5	-12.4798	9.1756	0.37109	0.0:0.776:0.0:0.224	.	814;803	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	N	803;814	ENSP00000326534:K803N;ENSP00000335193:K814N	ENSP00000326534:K803N	K	-	3	2	VPS39	40241573	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.481000	0.35476	0.668000	0.31126	-0.258000	0.10820	AAG		0.453	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289	
TTBK2	146057	broad.mit.edu	37	15	43069361	43069361	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:43069361A>G	ENST00000267890.6	-	12	1385	c.1277T>C	c.(1276-1278)gTc>gCc	p.V426A	TTBK2_ENST00000567274.1_Missense_Mutation_p.V391A|TTBK2_ENST00000567840.1_Missense_Mutation_p.V426A	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	426					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V426A(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTCTGAGCGGACACGAATTGG	0.473																																					p.V426A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1277C	15						.						83.0	83.0	83.0					15																	43069361		1937	4147	6084	40856653	SO:0001583	missense	146057	exon12			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1277T>C	15.37:g.43069361A>G	ENSP00000267890:p.Val426Ala		40856653	NM_173500	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573152	0.65765	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.50277	0.75	5.61	5.61	0.85477	.	0.187205	0.40385	N	0.001110	T	0.53206	0.1782	N	0.20685	0.6	0.58432	D	0.999996	B;D;P;D	0.56521	0.231;0.976;0.787;0.959	B;D;B;P	0.63957	0.055;0.92;0.295;0.771	T	0.59621	-0.7420	10	0.87932	D	0	.	15.8056	0.78506	1.0:0.0:0.0:0.0	.	831;357;426;426	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	A	426;356;831	ENSP00000267890:V426A	ENSP00000263802:V831A	V	-	2	0	TTBK2	40856653	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	6.831000	0.75324	2.127000	0.65507	0.533000	0.62120	GTC		0.473	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
TMEM62	80021	broad.mit.edu	37	15	43476645	43476645	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:43476645G>A	ENST00000260403.2	+	14	2072	c.1793G>A	c.(1792-1794)gGc>gAc	p.G598D	RP11-473C18.3_ENST00000565685.1_RNA|CCNDBP1_ENST00000356633.5_5'Flank|CCNDBP1_ENST00000300213.4_5'Flank|EPB42_ENST00000563128.1_Intron	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	598						integral component of membrane (GO:0016021)		p.G598D(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GCAACATACGGCACCCTAGCT	0.428																																					p.G598D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1793A	15						.						256.0	249.0	252.0					15																	43476645		2203	4299	6502	41263937	SO:0001583	missense	80021	exon14			BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1793G>A	15.37:g.43476645G>A	ENSP00000260403:p.Gly598Asp		41263937	NM_024956	Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641344	0.87859	.	.	ENSG00000137842	ENST00000260403	.	.	.	5.13	5.13	0.70059	.	0.048168	0.85682	D	0.000000	D	0.83202	0.5203	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84986	0.0891	9	0.66056	D	0.02	-8.2035	18.7746	0.91907	0.0:0.0:1.0:0.0	.	598	Q0P6H9	TMM62_HUMAN	D	598	.	ENSP00000260403:G598D	G	+	2	0	TMEM62	41263937	1.000000	0.71417	0.977000	0.42913	0.694000	0.40290	8.552000	0.90682	2.665000	0.90641	0.561000	0.74099	GGC		0.428	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956	
TGM5	9333	broad.mit.edu	37	15	43531044	43531044	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:43531044T>C	ENST00000220420.5	-	9	1323	c.1316A>G	c.(1315-1317)gAc>gGc	p.D439G	TGM5_ENST00000349114.4_Missense_Mutation_p.D357G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	439					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D439G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCTGTGATGTCATCCCGCTC	0.542																																					p.D357G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1070G	15						.						170.0	137.0	148.0					15																	43531044		2203	4299	6502	41318336	SO:0001583	missense	9333	exon8			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1316A>G	15.37:g.43531044T>C	ENSP00000220420:p.Asp439Gly		41318336	NM_004245	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176339	0.78564	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.70282	-0.47;-0.47	5.79	5.79	0.91817	.	0.108240	0.64402	D	0.000009	D	0.85716	0.5761	M	0.90705	3.14	0.51012	D	0.999903	D;D	0.61697	0.984;0.99	D;D	0.65233	0.933;0.917	D	0.88634	0.3171	10	0.87932	D	0	-35.158	14.0831	0.64937	0.0:0.0:0.0:1.0	.	357;439	O43548-2;O43548	.;TGM5_HUMAN	G	439;357;438	ENSP00000220420:D439G;ENSP00000220419:D357G	ENSP00000220420:D439G	D	-	2	0	TGM5	41318336	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	6.256000	0.72473	2.208000	0.71279	0.460000	0.39030	GAC		0.542	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
TUBGCP4	27229	broad.mit.edu	37	15	43668391	43668391	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:43668391C>A	ENST00000260383.7	+	2	428	c.174C>A	c.(172-174)ttC>ttA	p.F58L	TUBGCP4_ENST00000564079.1_Missense_Mutation_p.F58L|TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000399460.3_5'Flank			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	58					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.F58L(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TCACTGAGTTCATTGAACAGT	0.542											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F58L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C174A	15						.						104.0	104.0	104.0					15																	43668391		1981	4167	6148	41455683	SO:0001583	missense	27229	exon2			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.174C>A	15.37:g.43668391C>A	ENSP00000260383:p.Phe58Leu	918	41455683	NM_014444	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		.	.	.	.	.	.	.	.	.	.	C	28.1	4.893253	0.91889	.	.	ENSG00000137822	ENST00000260383	T	0.11712	2.75	5.64	5.64	0.86602	.	0.042775	0.85682	D	0.000000	T	0.34193	0.0889	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.02917	-1.1094	10	0.72032	D	0.01	-20.1539	12.3902	0.55355	0.0:0.9232:0.0:0.0768	.	58;58	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	L	58	ENSP00000260383:F58L	ENSP00000260383:F58L	F	+	3	2	TUBGCP4	41455683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.726000	0.47302	2.807000	0.96579	0.591000	0.81541	TTC		0.542	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444	
PDIA3	2923	broad.mit.edu	37	15	44057758	44057758	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:44057758A>G	ENST00000300289.5	+	6	861	c.713A>G	c.(712-714)gAa>gGa	p.E238G	PDIA3_ENST00000538521.1_Missense_Mutation_p.E218G	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	238				E -> G (in Ref. 4; CAA89996). {ECO:0000305}.	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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.E238G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TTTATCCAGGAAAACATGTGA	0.348																																					p.E238G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A713G	15						.						122.0	119.0	120.0					15																	44057758		2198	4298	6496	41845050	SO:0001583	missense	2923	exon6				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.713A>G	15.37:g.44057758A>G	ENSP00000300289:p.Glu238Gly		41845050	NM_005313	Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861604	0.71949	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.32988	1.43;1.43	5.69	5.69	0.88448	Thioredoxin-like fold (3);	0.139045	0.64402	D	0.000003	T	0.33673	0.0871	M	0.62723	1.935	0.58432	D	0.999996	B;B	0.34200	0.441;0.079	B;B	0.31016	0.123;0.048	T	0.17077	-1.0381	10	0.62326	D	0.03	.	15.9499	0.79827	1.0:0.0:0.0:0.0	.	218;238	G5EA52;P30101	.;PDIA3_HUMAN	G	238;213;12;218	ENSP00000300289:E238G;ENSP00000438260:E218G	ENSP00000300289:E238G	E	+	2	0	PDIA3	41845050	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.860000	0.92272	2.178000	0.69098	0.519000	0.50382	GAA		0.348	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313	
WDR76	79968	broad.mit.edu	37	15	44131850	44131850	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:44131850G>A	ENST00000263795.6	+	5	726	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	WDR76_ENST00000381246.2_Missense_Mutation_p.R155Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	219								p.R219Q(1)		breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AGGTCAATGCGATTACTAAAA	0.373																																					p.R155Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G464A	15						.						135.0	138.0	137.0					15																	44131850		2198	4298	6496	41919142	SO:0001583	missense	79968	exon5			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.656G>A	15.37:g.44131850G>A	ENSP00000263795:p.Arg219Gln		41919142	NM_001167941	A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667514	0.88348	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	T;T;T	0.63580	-0.05;-0.05;-0.05	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.81531	0.4842	M	0.86740	2.835	0.42803	D	0.993932	D	0.89917	1.0	D	0.91635	0.999	D	0.85246	0.1041	10	0.87932	D	0	-2.7991	15.6201	0.76799	0.0:0.0:1.0:0.0	.	219	Q9H967	WDR76_HUMAN	Q	219;155;155	ENSP00000263795:R219Q;ENSP00000370645:R155Q;ENSP00000404665:R155Q	ENSP00000263795:R219Q	R	+	2	0	WDR76	41919142	1.000000	0.71417	0.999000	0.59377	0.713000	0.41058	5.746000	0.68681	2.516000	0.84829	0.557000	0.71058	CGA		0.373	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908	
SPG11	80208	broad.mit.edu	37	15	44864905	44864905	+	Missense_Mutation	SNP	C	C	T	rs115970214	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:44864905C>T	ENST00000261866.7	-	33	6335	c.6319G>A	c.(6319-6321)Gtt>Att	p.V2107I	SPG11_ENST00000535302.2_Missense_Mutation_p.V1994I|SPG11_ENST00000427534.2_Missense_Mutation_p.V2107I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2107					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.V2107I(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)		CCATGGGGAACGGAGGAAATC	0.448													C|||	38	0.00758786	0.028	0.0014	5008	,	,		20037	0.0		0.0	False		,,,				2504	0.0				p.V2107I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6319A	15						.	C	ILE/VAL,ILE/VAL	122,4274	91.6+/-130.3	4,114,2080	172.0	133.0	146.0		5980,6319	5.7	1.0	15	dbSNP_132	146	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense	SPG11	NM_001160227.1,NM_025137.3	29,29	4,115,6377	TT,TC,CC		0.0116,2.7753,0.9467	probably-damaging,probably-damaging	1994/2331,2107/2444	44864905	123,12869	2198	4298	6496	42652197	SO:0001583	missense	80208	exon33				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.6319G>A	15.37:g.44864905C>T	ENSP00000261866:p.Val2107Ile		42652197	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	C	21.3	4.122414	0.77436	0.027753	1.16E-4	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77877	-1.13;-0.82;-0.87	5.65	5.65	0.86999	.	0.060344	0.64402	D	0.000003	T	0.73697	0.3620	M	0.76002	2.32	0.80722	D	1	P;D;P	0.89917	0.794;1.0;0.794	B;D;B	0.66847	0.237;0.947;0.237	T	0.80607	-0.1307	10	0.45353	T	0.12	.	17.869	0.88806	0.0:1.0:0.0:0.0	.	2107;1994;2107	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	I	2107;1994;2107	ENSP00000261866:V2107I;ENSP00000445278:V1994I;ENSP00000396110:V2107I	ENSP00000261866:V2107I	V	-	1	0	SPG11	42652197	0.993000	0.37304	0.995000	0.50966	0.995000	0.86356	3.515000	0.53429	2.824000	0.97209	0.655000	0.94253	GTT		0.448	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
C15orf43	145645	broad.mit.edu	37	15	45250614	45250614	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:45250614T>G	ENST00000340827.3	+	3	207	c.190T>G	c.(190-192)Ttt>Gtt	p.F64V		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	64								p.F64V(1)		NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TGCTACAGTTTTTCATGCCTA	0.363																																					p.F64V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T190G	15						.						95.0	98.0	97.0					15																	45250614		2197	4298	6495	43037906	SO:0001583	missense	145645	exon3			BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.190T>G	15.37:g.45250614T>G	ENSP00000340644:p.Phe64Val		43037906	NM_152448		Missense_Mutation	SNP	ENST00000340827.3	37	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	t	19.17	3.776189	0.70107	.	.	ENSG00000167014	ENST00000340827	T	0.65732	-0.17	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000006	T	0.67468	0.2896	L	0.34521	1.04	0.37517	D	0.917364	D	0.76494	0.999	D	0.78314	0.991	T	0.73388	-0.3998	10	0.87932	D	0	.	10.2784	0.43523	0.0:0.0:0.0:1.0	.	64	Q8NHR7	CO043_HUMAN	V	64	ENSP00000340644:F64V	ENSP00000340644:F64V	F	+	1	0	C15orf43	43037906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.549000	0.60726	2.006000	0.58801	0.523000	0.50628	TTT		0.363	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448	
SHF	90525	broad.mit.edu	37	15	45464172	45464172	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:45464172C>T	ENST00000290894.8	-	7	1488	c.994G>A	c.(994-996)Gac>Aac	p.D332N	SHF_ENST00000560471.1_Missense_Mutation_p.R396Q|SHF_ENST00000560734.1_Intron|SHF_ENST00000561091.1_5'Flank|SHF_ENST00000560540.1_Missense_Mutation_p.R349Q|SHF_ENST00000318390.6_Missense_Mutation_p.D342N|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000458022.2_Missense_Mutation_p.D148N	NM_138356.2	NP_612365			Src homology 2 domain containing F									p.D332N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TTCTCGGCGTCGGTTCGGCTG	0.612																																					p.D332N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G994A	15						.						58.0	47.0	51.0					15																	45464172		2198	4298	6496	43251464	SO:0001583	missense	90525	exon7			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.994G>A	15.37:g.45464172C>T	ENSP00000290894:p.Asp332Asn		43251464	NM_138356		Missense_Mutation	SNP	ENST00000290894.8	37	CCDS10120.2	.	.	.	.	.	.	.	.	.	.	C	33	5.210123	0.95069	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.37584	1.19;1.19;1.19	4.94	4.94	0.65067	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.67569	2.06	0.80722	D	1	P	0.51240	0.943	P	0.50708	0.648	T	0.54689	-0.8256	10	0.72032	D	0.01	-21.8162	15.689	0.77436	0.0:1.0:0.0:0.0	.	332	Q7M4L6	SHF_HUMAN	N	332;332;342;148;275	ENSP00000290894:D332N;ENSP00000315978:D342N;ENSP00000411530:D148N	ENSP00000290894:D332N	D	-	1	0	SHF	43251464	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.087000	0.71362	2.286000	0.76751	0.655000	0.94253	GAC		0.612	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254141.2	NM_138356	
SQRDL	58472	broad.mit.edu	37	15	45983200	45983200	+	Missense_Mutation	SNP	G	G	A	rs138050047	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:45983200G>A	ENST00000260324.7	+	10	1711	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	SQRDL_ENST00000568606.1_Missense_Mutation_p.R442H	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	442					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)	p.R442H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GCGTTTCTGCGCAAGTTGTTT	0.488													G|||	16	0.00319489	0.0121	0.0	5008	,	,		19990	0.0		0.0	False		,,,				2504	0.0				p.R442H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1325A	15						.	G	HIS/ARG	60,4336	56.2+/-92.4	0,60,2138	279.0	253.0	262.0		1325	5.6	1.0	15	dbSNP_134	262	1,8593	1.2+/-3.3	0,1,4296	yes	missense	SQRDL	NM_021199.2	29	0,61,6434	AA,AG,GG		0.0116,1.3649,0.4696	probably-damaging	442/451	45983200	61,12929	2198	4297	6495	43770492	SO:0001583	missense	58472	exon10			AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.1325G>A	15.37:g.45983200G>A	ENSP00000260324:p.Arg442His		43770492	NM_021199	Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	CCDS10127.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	32	5.187623	0.94923	0.013649	1.16E-4	ENSG00000137767	ENST00000260324	T	0.52295	0.67	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.74106	-0.3772	10	0.87932	D	0	.	18.1349	0.89616	0.0:0.0:1.0:0.0	.	442	Q9Y6N5	SQRD_HUMAN	H	442	ENSP00000260324:R442H	ENSP00000260324:R442H	R	+	2	0	SQRDL	43770492	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.023000	0.88764	2.635000	0.89317	0.655000	0.94253	CGC		0.488	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2		
SLC24A5	283652	broad.mit.edu	37	15	48414091	48414091	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:48414091G>A	ENST00000341459.3	+	2	232	c.159G>A	c.(157-159)gaG>gaA	p.E53E	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000482911.2_Silent_p.E53E	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	53					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.E53E(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CATCATCGGAGTTTCCCGAAG	0.423																																					p.E53E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G159A	15						.						127.0	129.0	129.0					15																	48414091		2198	4297	6495	46201383	SO:0001819	synonymous_variant	283652	exon2			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.159G>A	15.37:g.48414091G>A			46201383	NM_205850	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	CCDS10128.1																																																																																				0.423	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	
MYEF2	50804	broad.mit.edu	37	15	48458201	48458201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:48458201C>A	ENST00000324324.7	-	5	733	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	MYEF2_ENST00000267836.6_Nonsense_Mutation_p.E152*	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	152	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E152*(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTTACAAATTCTTCATCTTTG	0.264																																					p.E152X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G454T	15						.						57.0	70.0	66.0					15																	48458201		2181	4245	6426	46245493	SO:0001587	stop_gained	50804	exon5			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.454G>T	15.37:g.48458201C>A	ENSP00000316950:p.Glu152*		46245493	NM_016132	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Nonsense_Mutation	SNP	ENST00000324324.7	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	39	7.498957	0.98322	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	.	.	.	5.88	5.88	0.94601	.	0.045766	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.9327	20.2165	0.98299	0.0:1.0:0.0:0.0	.	.	.	.	X	152	.	ENSP00000267836:E152X	E	-	1	0	MYEF2	46245493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.486000	0.81215	2.787000	0.95880	0.585000	0.79938	GAA		0.264	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132	
FBN1	2200	broad.mit.edu	37	15	48703477	48703477	+	Nonsense_Mutation	SNP	G	G	A	rs137854466		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:48703477G>A	ENST00000316623.5	-	66	8781	c.8326C>T	c.(8326-8328)Cga>Tga	p.R2776*	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2776					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.R2776*(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)		TCTAGGATTCGAACCTTGTTA	0.413																																					p.R2776X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C8326T	15	GRCh37	CM940772	FBN1	M	rs137854466	.						149.0	141.0	143.0					15																	48703477		2198	4297	6495	46490769	SO:0001587	stop_gained	2200	exon66			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.8326C>T	15.37:g.48703477G>A	ENSP00000325527:p.Arg2776*		46490769	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	51	17.547265	0.99888	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.46	5.46	0.80206	.	0.054824	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2661	0.93985	0.0:0.0:1.0:0.0	.	.	.	.	X	2776	.	ENSP00000325527:R2776X	R	-	1	2	FBN1	46490769	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.897000	0.87356	2.727000	0.93392	0.650000	0.86243	CGA		0.413	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48726809	48726809	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:48726809G>A	ENST00000316623.5	-	54	7053	c.6598C>T	c.(6598-6600)Cca>Tca	p.P2200S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2200	EGF-like 37; 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.P2200S(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)		GTCATCATTGGACCGGGCTCA	0.408																																					p.P2200S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6598T	15						.						143.0	119.0	127.0					15																	48726809		2198	4296	6494	46514101	SO:0001583	missense	2200	exon54			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.6598C>T	15.37:g.48726809G>A	ENSP00000325527:p.Pro2200Ser		46514101	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601671	0.87055	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.87029	-2.2	6.07	6.07	0.98685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.047581	0.85682	D	0.000000	D	0.84042	0.5385	L	0.33485	1.01	0.80722	D	1	B	0.22746	0.074	B	0.27170	0.077	T	0.77566	-0.2540	10	0.39692	T	0.17	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	2200	P35555	FBN1_HUMAN	S	2200;768;1090	ENSP00000325527:P2200S	ENSP00000325527:P2200S	P	-	1	0	FBN1	46514101	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.971000	0.88012	2.885000	0.99019	0.655000	0.94253	CCA		0.408	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48829905	48829905	+	Silent	SNP	G	G	A	rs543984363		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:48829905G>A	ENST00000316623.5	-	7	1094	c.639C>T	c.(637-639)gtC>gtT	p.V213V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	213	TB 1.				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.V213V(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)		AGGCTCGGCCGACTGTGGCAC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		16225	0.0		0.0	False		,,,				2504	0.001				p.V213V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	15						.						72.0	74.0	73.0					15																	48829905		2197	4296	6493	46617197	SO:0001819	synonymous_variant	2200	exon7			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.639C>T	15.37:g.48829905G>A			46617197	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.577	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
SECISBP2L	9728	broad.mit.edu	37	15	49309088	49309088	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:49309088G>T	ENST00000559471.1	-	10	1639	c.1376C>A	c.(1375-1377)gCt>gAt	p.A459D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.A414D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	459							poly(A) RNA binding (GO:0044822)	p.A414D(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATACTCTTGAGCTGTGGCAAG	0.363																																					p.A414D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1241A	15						.						120.0	116.0	118.0					15																	49309088		2197	4295	6492	47096380	SO:0001583	missense	9728	exon9			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1376C>A	15.37:g.49309088G>T	ENSP00000453854:p.Ala459Asp		47096380	NM_014701	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928008	0.92389	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89617	-2.54	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.66351	0.879;0.943	D	0.93042	0.6458	10	0.56958	D	0.05	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	459;414	Q93073;Q93073-2	SBP2L_HUMAN;.	D	414;459	ENSP00000261847:A414D	ENSP00000261847:A414D	A	-	2	0	SECISBP2L	47096380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.816000	0.91979	2.671000	0.90904	0.650000	0.86243	GCT		0.363	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
SECISBP2L	9728	broad.mit.edu	37	15	49320862	49320862	+	Missense_Mutation	SNP	C	C	T	rs371138651		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:49320862C>T	ENST00000559471.1	-	5	945	c.682G>A	c.(682-684)Gct>Act	p.A228T	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.A228T	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	228							poly(A) RNA binding (GO:0044822)	p.A228T(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GACTTGTTAGCGATATCTGAT	0.398																																					p.A228T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	15						.	C	THR/ALA,THR/ALA	0,4394		0,0,2197	101.0	100.0	101.0		682,682	5.8	1.0	15		101	2,8588	1.2+/-3.3	0,2,4293	no	missense,missense	SECISBP2L	NM_001193489.1,NM_014701.3	58,58	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	228/1102,228/1057	49320862	2,12982	2197	4295	6492	47108154	SO:0001583	missense	9728	exon5			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.682G>A	15.37:g.49320862C>T	ENSP00000453854:p.Ala228Thr		47108154	NM_014701	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457262	0.84317	0.0	2.33E-4	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.90133	-2.62	5.78	5.78	0.91487	.	0.110876	0.64402	D	0.000006	D	0.88599	0.6480	L	0.29908	0.895	0.45995	D	0.9988	D;D	0.61697	0.983;0.99	B;P	0.49332	0.403;0.607	D	0.85289	0.1066	10	0.15066	T	0.55	.	20.0278	0.97529	0.0:1.0:0.0:0.0	.	228;228	Q93073;Q93073-2	SBP2L_HUMAN;.	T	228	ENSP00000261847:A228T	ENSP00000261847:A228T	A	-	1	0	SECISBP2L	47108154	0.999000	0.42202	0.995000	0.50966	0.966000	0.64601	3.830000	0.55768	2.732000	0.93576	0.655000	0.94253	GCT		0.398	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
ATP8B4	79895	broad.mit.edu	37	15	50168617	50168617	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:50168617C>T	ENST00000284509.6	-	25	3026	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G962E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	962						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.G962E(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)		GGTGTAGATTCCATGCAACAC	0.463																																					p.G962E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2885A	15						.						137.0	123.0	128.0					15																	50168617		2196	4295	6491	47955909	SO:0001583	missense	79895	exon25			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.2885G>A	15.37:g.50168617C>T	ENSP00000284509:p.Gly962Glu		47955909	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962509	0.92791	.	.	ENSG00000104043	ENST00000284509	T	0.75589	-0.95	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.971	D	0.93924	0.7208	10	0.87932	D	0	.	17.6957	0.88281	0.0:1.0:0.0:0.0	.	40;962	Q6PG43;Q8TF62	.;AT8B4_HUMAN	E	962	ENSP00000284509:G962E	ENSP00000284509:G962E	G	-	2	0	ATP8B4	47955909	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.770000	0.85390	2.776000	0.95493	0.655000	0.94253	GGA		0.463	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
ATP8B4	79895	broad.mit.edu	37	15	50339641	50339641	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:50339641C>T	ENST00000284509.6	-	4	249	c.108G>A	c.(106-108)tcG>tcA	p.S36S	ATP8B4_ENST00000558959.1_5'Flank|ATP8B4_ENST00000559829.1_Silent_p.S36S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	36						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.S36S(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)		TATTATATTTCGATGTGTGGA	0.358																																					p.S36S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G108A	15						.						100.0	103.0	102.0					15																	50339641		2196	4295	6491	48126933	SO:0001819	synonymous_variant	79895	exon4			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.108G>A	15.37:g.50339641C>T			48126933	NM_024837	Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																				0.358	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
SLC27A2	11001	broad.mit.edu	37	15	50474987	50474987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:50474987G>A	ENST00000267842.5	+	1	595	c.363G>A	c.(361-363)tgG>tgA	p.W121*	SLC27A2_ENST00000380902.4_Nonsense_Mutation_p.W121*	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	121					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.W121*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGTGGCTGTGGCTGGGGCTGG	0.662																																					p.W121X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G363A	15						.						75.0	84.0	81.0					15																	50474987		2196	4295	6491	48262279	SO:0001587	stop_gained	11001	exon1			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.363G>A	15.37:g.50474987G>A	ENSP00000267842:p.Trp121*		48262279	NM_001159629	A8K2J7|Q53FY6|Q6PF09	Nonsense_Mutation	SNP	ENST00000267842.5	37	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	40	8.439690	0.98813	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	.	.	.	4.94	3.96	0.45880	.	0.074915	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7558	0.57335	0.0:0.1665:0.8334:0.0	.	.	.	.	X	121	.	ENSP00000267842:W121X	W	+	3	0	SLC27A2	48262279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.060000	0.64312	2.446000	0.82766	0.561000	0.74099	TGG		0.662	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	
TRPM7	54822	broad.mit.edu	37	15	50884761	50884761	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:50884761G>T	ENST00000313478.7	-	26	3952	c.3671C>A	c.(3670-3672)tCa>tAa	p.S1224*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.S1224*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1224					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.S1224*(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)		TGATTGTAATGATCTTTTTAT	0.373																																					p.S1224X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3671A	15						.						122.0	111.0	114.0					15																	50884761		1848	4084	5932	48672053	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.3671C>A	15.37:g.50884761G>T	ENSP00000320239:p.Ser1224*		48672053	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Nonsense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	44	10.844366	0.99477	.	.	ENSG00000092439	ENST00000313478	.	.	.	5.3	5.3	0.74995	.	0.132088	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3398	19.2142	0.93768	0.0:0.0:1.0:0.0	.	.	.	.	X	1224	.	ENSP00000320239:S1224X	S	-	2	0	TRPM7	48672053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.771000	0.95319	0.644000	0.83932	TCA		0.373	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TRPM7	54822	broad.mit.edu	37	15	50901830	50901830	+	Missense_Mutation	SNP	C	C	T	rs377252016		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:50901830C>T	ENST00000313478.7	-	19	2809	c.2528G>A	c.(2527-2529)cGa>cAa	p.R843Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.R843Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	843					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.R843Q(2)		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)		ATAAAACTTTCGCGTAATTGG	0.299																																					p.R843Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2528A	15						.	C	GLN/ARG	1,3651		0,1,1825	177.0	165.0	169.0		2528	5.6	1.0	15		169	0,8140		0,0,4070	no	missense	TRPM7	NM_017672.4	43	0,1,5895	TT,TC,CC		0.0,0.0274,0.0085	benign	843/1866	50901830	1,11791	1826	4070	5896	48689122	SO:0001583	missense	54822	exon19			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.2528G>A	15.37:g.50901830C>T	ENSP00000320239:p.Arg843Gln		48689122	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259084	0.59321	2.74E-4	0.0	ENSG00000092439	ENST00000313478	D	0.83914	-1.78	5.59	5.59	0.84812	.	0.060945	0.64402	D	0.000005	T	0.75004	0.3791	L	0.41710	1.295	0.42123	D	0.991433	B	0.21071	0.051	B	0.09377	0.004	T	0.71490	-0.4577	10	0.51188	T	0.08	-10.1931	9.8132	0.40835	0.0:0.8419:0.0:0.1581	.	843	Q96QT4	TRPM7_HUMAN	Q	843	ENSP00000320239:R843Q	ENSP00000320239:R843Q	R	-	2	0	TRPM7	48689122	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.738000	0.62073	2.645000	0.89757	0.467000	0.42956	CGA		0.299	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
GLDN	342035	broad.mit.edu	37	15	51696661	51696661	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:51696661A>G	ENST00000335449.6	+	10	1422	c.1366A>G	c.(1366-1368)Aca>Gca	p.T456A	GLDN_ENST00000396399.2_Missense_Mutation_p.T332A	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	456	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T456A(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGATGAGAGGACATTCTCAGT	0.473																																					p.T456A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1366G	15						.						169.0	153.0	159.0					15																	51696661		2196	4293	6489	49483953	SO:0001583	missense	342035	exon10			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1366A>G	15.37:g.51696661A>G	ENSP00000335196:p.Thr456Ala		49483953	NM_181789	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842808	0.71488	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.90620	-2.7;-2.7	5.71	5.71	0.89125	Olfactomedin-like (3);	0.000000	0.44688	D	0.000435	D	0.93546	0.7940	M	0.76574	2.34	0.80722	D	1	D	0.58970	0.984	P	0.59948	0.866	D	0.93537	0.6874	10	0.54805	T	0.06	.	11.0823	0.48068	0.9282:0.0:0.0718:0.0	.	456	Q6ZMI3	GLDN_HUMAN	A	456;332;332	ENSP00000335196:T456A;ENSP00000379681:T332A	ENSP00000335196:T456A	T	+	1	0	GLDN	49483953	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	4.766000	0.62279	2.189000	0.69895	0.460000	0.39030	ACA		0.473	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789	
DMXL2	23312	broad.mit.edu	37	15	51792098	51792098	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:51792098T>G	ENST00000251076.5	-	18	3610	c.3323A>C	c.(3322-3324)gAa>gCa	p.E1108A	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E1108A	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1108						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.E1108A(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)		AGATTCACATTCAAATATACA	0.398																																					p.E1108A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3323C	15						.						71.0	65.0	67.0					15																	51792098		2195	4293	6488	49579390	SO:0001583	missense	23312	exon18			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.3323A>C	15.37:g.51792098T>G	ENSP00000251076:p.Glu1108Ala		49579390	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.491466	0.64074	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.35605	1.3;1.3	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.986	T	0.67405	-0.5679	10	0.87932	D	0	.	15.3456	0.74334	0.0:0.0:0.0:1.0	.	1108;1108	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	A	1108	ENSP00000251076:E1108A;ENSP00000441858:E1108A	ENSP00000251076:E1108A	E	-	2	0	DMXL2	49579390	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.671000	0.83941	2.021000	0.59480	0.482000	0.46254	GAA		0.398	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	52011632	52011632	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:52011632T>C	ENST00000220478.3	+	12	1719	c.1316T>C	c.(1315-1317)tTc>tCc	p.F439S	SCG3_ENST00000542355.2_Missense_Mutation_p.F207S	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	439					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.F439S(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)		ATGAGAGACTTCATCAATAAA	0.393																																					p.F439S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1316C	15						.						71.0	69.0	70.0					15																	52011632		2195	4293	6488	49798924	SO:0001583	missense	29106	exon12			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.1316T>C	15.37:g.52011632T>C	ENSP00000220478:p.Phe439Ser		49798924	NM_013243	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531190	0.85706	.	.	ENSG00000104112	ENST00000220478;ENST00000542355	T;T	0.36878	1.23;1.23	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53034	-0.8495	10	0.87932	D	0	-18.9858	15.302	0.73958	0.0:0.0:0.0:1.0	.	439	Q8WXD2	SCG3_HUMAN	S	439;207	ENSP00000220478:F439S;ENSP00000445205:F207S	ENSP00000220478:F439S	F	+	2	0	SCG3	49798924	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.513000	0.81739	2.191000	0.70037	0.533000	0.62120	TTC		0.393	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243	
MYO5C	55930	broad.mit.edu	37	15	52567844	52567844	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:52567844G>A	ENST00000261839.7	-	5	682	c.521C>T	c.(520-522)gCc>gTc	p.A174V	MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Missense_Mutation_p.A117V	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	174	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A174V(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)		GTACCTCATGGCATAGCGAGC	0.488																																					p.A174V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C521T	15						.						126.0	128.0	127.0					15																	52567844		2126	4230	6356	50355136	SO:0001583	missense	55930	exon5			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.521C>T	15.37:g.52567844G>A	ENSP00000261839:p.Ala174Val		50355136	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081268	0.55753	.	.	ENSG00000128833	ENST00000261839;ENST00000443683;ENST00000541028	D;D	0.94280	-3.39;-1.82	5.32	5.32	0.75619	Myosin head, motor domain (3);	0.058908	0.64402	D	0.000002	D	0.84741	0.5539	N	0.11673	0.155	0.52501	D	0.999951	B;P	0.36354	0.173;0.549	B;B	0.34779	0.091;0.189	D	0.84219	0.0460	10	0.02654	T	1	.	19.0034	0.92842	0.0:0.0:1.0:0.0	.	137;174	F5H231;Q9NQX4	.;MYO5C_HUMAN	V	174;117;137	ENSP00000261839:A174V;ENSP00000410582:A117V	ENSP00000261839:A174V	A	-	2	0	MYO5C	50355136	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.748000	0.74877	2.484000	0.83849	0.467000	0.42956	GCC		0.488	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
MYO5A	4644	broad.mit.edu	37	15	52659253	52659253	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:52659253G>A	ENST00000399231.3	-	23	3378	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	MYO5A_ENST00000553916.1_Silent_p.I1045I|MYO5A_ENST00000399233.2_Silent_p.I1045I|MYO5A_ENST00000356338.6_Silent_p.I1045I|MYO5A_ENST00000358212.6_Silent_p.I1045I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1045					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.I1045I(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)		CCTGCTGCACGATGCGGTGAT	0.408																																					p.I1045I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3135T	15						.						210.0	198.0	202.0					15																	52659253		1998	4167	6165	50446545	SO:0001819	synonymous_variant	4644	exon23				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.3135C>T	15.37:g.52659253G>A			50446545	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																				0.408	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
MYO5A	4644	broad.mit.edu	37	15	52668596	52668596	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:52668596G>A	ENST00000399231.3	-	19	2611	c.2368C>T	c.(2368-2370)Cgg>Tgg	p.R790W	MYO5A_ENST00000553916.1_Missense_Mutation_p.R790W|MYO5A_ENST00000399233.2_Missense_Mutation_p.R790W|MYO5A_ENST00000356338.6_Missense_Mutation_p.R790W|MYO5A_ENST00000358212.6_Missense_Mutation_p.R790W	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	790	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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.R790W(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)		GCTGCCTTCCGCATGCGTAGG	0.542																																					p.R790W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2368T	15						.						77.0	75.0	75.0					15																	52668596		1947	4164	6111	50455888	SO:0001583	missense	4644	exon19				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.2368C>T	15.37:g.52668596G>A	ENSP00000382177:p.Arg790Trp		50455888	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677805	0.68042	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.43	3.4	0.38934	.	0.233910	0.40064	N	0.001186	T	0.49609	0.1567	M	0.87456	2.885	0.54753	D	0.999989	B;D	0.61697	0.147;0.99	B;P	0.51833	0.223;0.681	T	0.63686	-0.6581	10	0.87932	D	0	.	13.5473	0.61711	0.0:0.0:0.6028:0.3972	.	790;790	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	W	790;324;790;790;790;420;790	ENSP00000382177:R790W;ENSP00000382179:R790W;ENSP00000348693:R790W;ENSP00000350945:R790W;ENSP00000451109:R790W	ENSP00000348693:R790W	R	-	1	2	MYO5A	50455888	0.992000	0.36948	1.000000	0.80357	0.938000	0.57974	0.970000	0.29383	1.502000	0.48669	0.655000	0.94253	CGG		0.542	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
WDR72	256764	broad.mit.edu	37	15	53907819	53907819	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:53907819A>C	ENST00000396328.1	-	15	2823	c.2584T>G	c.(2584-2586)Tta>Gta	p.L862V	WDR72_ENST00000559418.1_Missense_Mutation_p.L872V|WDR72_ENST00000557913.1_Missense_Mutation_p.L859V|WDR72_ENST00000360509.5_Missense_Mutation_p.L862V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	862								p.L862V(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)		CTGGAAAATAAATTTACTCCT	0.338																																					p.L862V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2584G	15						.						54.0	56.0	55.0					15																	53907819		2191	4289	6480	51695111	SO:0001583	missense	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.2584T>G	15.37:g.53907819A>C	ENSP00000379619:p.Leu862Val		51695111	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141173	0.56936	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.51817	0.69;0.69	5.72	1.58	0.23477	.	0.122489	0.36555	N	0.002532	T	0.46132	0.1377	L	0.36672	1.1	0.26681	N	0.971548	D	0.67145	0.996	P	0.60473	0.875	T	0.28427	-1.0044	10	0.30078	T	0.28	.	5.1357	0.14934	0.6546:0.1473:0.1981:0.0	.	862	Q3MJ13	WDR72_HUMAN	V	862	ENSP00000379619:L862V;ENSP00000353699:L862V	ENSP00000353699:L862V	L	-	1	2	WDR72	51695111	1.000000	0.71417	0.892000	0.35008	0.895000	0.52256	2.431000	0.44775	0.272000	0.22027	0.533000	0.62120	TTA		0.338	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
UNC13C	440279	broad.mit.edu	37	15	54305645	54305645	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:54305645G>A	ENST00000260323.11	+	1	545	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	UNC13C_ENST00000545554.1_Missense_Mutation_p.R182Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R182Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	182					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.R182Q(1)		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)		GGAGCTTTACGAAAACTGAGA	0.458																																					p.R182Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G545A	15						.						106.0	104.0	105.0					15																	54305645		1905	4106	6011	52092937	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.545G>A	15.37:g.54305645G>A	ENSP00000260323:p.Arg182Gln		52092937	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750905	0.49257	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82803	-1.65;-1.65;-1.65	4.98	4.07	0.47477	.	.	.	.	.	T	0.73969	0.3655	L	0.29908	0.895	0.35756	D	0.819809	B	0.20550	0.046	B	0.11329	0.006	T	0.74150	-0.3758	9	0.49607	T	0.09	.	12.2085	0.54365	0.0823:0.0:0.9177:0.0	.	182	Q8NB66	UN13C_HUMAN	Q	182	ENSP00000260323:R182Q;ENSP00000438156:R182Q;ENSP00000442569:R182Q	ENSP00000260323:R182Q	R	+	2	0	UNC13C	52092937	0.994000	0.37717	0.985000	0.45067	0.888000	0.51559	4.614000	0.61183	1.078000	0.41014	0.655000	0.94253	CGA		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UNC13C	440279	broad.mit.edu	37	15	54919261	54919261	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:54919261G>T	ENST00000260323.11	+	32	6595	c.6595G>T	c.(6595-6597)Gaa>Taa	p.E2199*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E2199*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E2197*|UNC13C_ENST00000539562.2_Nonsense_Mutation_p.E120*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2199					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.E2199*(1)		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)		TGTGGCTAAAGAATTTGTAAG	0.363																																					p.E2199X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6595T	15						.						86.0	81.0	83.0					15																	54919261		1885	4109	5994	52706553	SO:0001587	stop_gained	440279	exon31			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.6595G>T	15.37:g.54919261G>T	ENSP00000260323:p.Glu2199*		52706553	NM_001080534	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	47	12.975817	0.99710	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900;ENST00000539562	.	.	.	5.72	5.72	0.89469	.	0.103566	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8767	0.92341	0.0:0.0:1.0:0.0	.	.	.	.	X	2199;2199;2197;120	.	ENSP00000260323:E2199X	E	+	1	0	UNC13C	52706553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.700000	0.92200	0.563000	0.77884	GAA		0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
RFX7	64864	broad.mit.edu	37	15	56535334	56535334	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:56535334C>A	ENST00000423270.1	-	1	149	c.150G>T	c.(148-150)aaG>aaT	p.K50N	RFX7_ENST00000317318.6_Missense_Mutation_p.K50N|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	0					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K50N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGATGGAGTTCTTGATCTTGT	0.667																																					p.K50N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G150T	15						.						17.0	18.0	18.0					15																	56535334		1891	4115	6006	54322626	SO:0001583	missense	64864	exon1					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000423270.1:c.150G>T	15.37:g.56535334C>A	ENSP00000397644:p.Lys50Asn		54322626	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000423270.1	37		.	.	.	.	.	.	.	.	.	.	C	18.09	3.546980	0.65198	.	.	ENSG00000181827	ENST00000317318;ENST00000423270	T;T	0.55413	0.52;0.52	3.28	3.28	0.37604	.	.	.	.	.	T	0.63165	0.2488	.	.	.	0.51482	D	0.999922	.	.	.	.	.	.	T	0.67534	-0.5646	6	0.62326	D	0.03	.	12.4254	0.55544	0.0:1.0:0.0:0.0	.	.	.	.	N	50	ENSP00000313299:K50N;ENSP00000397644:K50N	ENSP00000313299:K50N	K	-	3	2	RFX7	54322626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.742000	0.47434	1.859000	0.53934	0.460000	0.39030	AAG		0.667	RFX7-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022841	
MNS1	55329	broad.mit.edu	37	15	56739117	56739117	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:56739117C>A	ENST00000260453.3	-	4	542	c.378G>T	c.(376-378)aaG>aaT	p.K126N		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	126	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.K126N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTTTTAATTTCTTCTCCAATT	0.318																																					p.K126N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G378T	15						.						85.0	82.0	83.0					15																	56739117		2190	4290	6480	54526409	SO:0001583	missense	55329	exon4			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.378G>T	15.37:g.56739117C>A	ENSP00000260453:p.Lys126Asn		54526409	NM_018365	Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888407	0.52014	.	.	ENSG00000138587	ENST00000260453	T	0.10099	2.91	5.65	4.63	0.57726	.	0.480102	0.25283	N	0.031791	T	0.08758	0.0217	L	0.47716	1.5	0.30728	N	0.747486	B	0.33318	0.408	B	0.34489	0.184	T	0.06625	-1.0816	10	0.21014	T	0.42	-12.3068	4.5108	0.11910	0.0:0.7194:0.0:0.2806	.	126	Q8NEH6	MNS1_HUMAN	N	126	ENSP00000260453:K126N	ENSP00000260453:K126N	K	-	3	2	MNS1	54526409	0.917000	0.31117	1.000000	0.80357	0.998000	0.95712	0.011000	0.13264	2.645000	0.89757	0.557000	0.71058	AAG		0.318	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365	
TCF12	6938	broad.mit.edu	37	15	57544625	57544625	+	Intron	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:57544625C>T	ENST00000267811.5	+	15	1492				TCF12_ENST00000438423.2_Nonsense_Mutation_p.R399*|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000557843.1_Intron|TCF12_ENST00000452095.2_Nonsense_Mutation_p.R395*|TCF12_ENST00000343827.3_Intron|TCF12_ENST00000543579.1_Nonsense_Mutation_p.R229*|TCF12_ENST00000559703.1_Nonsense_Mutation_p.R33*|TCF12_ENST00000333725.5_Nonsense_Mutation_p.R399*|TCF12_ENST00000559710.1_Intron	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R395*(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCAGAAAAATCGAGTTGAGCA	0.398			T	TEC	extraskeletal myxoid chondrosarcoma																																p.R399X			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1195T	15						.						125.0	104.0	111.0					15																	57544625		2192	4292	6484	55331917	SO:0001627	intron_variant	6938	exon15			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1189-835C>T	15.37:g.57544625C>T			55331917	NM_207037	Q7Z3D9|Q86TC1|Q86VM2	Nonsense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937444	0.92458	.	.	ENSG00000140262	ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-7.913	19.9601	0.97247	0.0:1.0:0.0:0.0	.	.	.	.	X	399;395;399;229	.	ENSP00000331057:R399X	R	+	1	2	TCF12	55331917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.100000	0.71473	2.720000	0.93068	0.655000	0.94253	CGA		0.398	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
MYZAP	100820829	broad.mit.edu	37	15	57953710	57953710	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:57953710G>T	ENST00000267853.5	+	11	1276	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	GCOM1_ENST00000396180.1_Missense_Mutation_p.K363N|GCOM1_ENST00000587652.1_Missense_Mutation_p.K394N|GCOM1_ENST00000574161.1_Missense_Mutation_p.K394N|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380560.2_Missense_Mutation_p.K325N|GCOM1_ENST00000572390.1_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.K394N|MYZAP_ENST00000380565.4_Intron|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.K394N			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	394					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.K394N(1)									TTTTAGAAAAGATATCTTTCT	0.333																																					p.K394N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1182T	15						.						58.0	56.0	57.0					15																	57953710		2191	4291	6482	55741002	SO:0001583	missense	145781	exon11			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.1182G>T	15.37:g.57953710G>T	ENSP00000267853:p.Lys394Asn		55741002	NM_001018100	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	17.26	3.344541	0.61073	.	.	ENSG00000137878	ENST00000380569;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380568;ENST00000461709	T;T;T;T;T;T	0.45668	1.18;1.15;1.11;1.12;1.13;0.89	5.88	2.95	0.34219	.	0.046236	0.85682	D	0.000000	T	0.59074	0.2167	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.996	D;D;D	0.76071	0.959;0.987;0.921	T	0.59123	-0.7513	10	0.62326	D	0.03	-42.3574	7.9115	0.29793	0.2663:0.0:0.7337:0.0	.	394;394;394	P0CAP1-2;P0CAP1-11;P0CAP1	.;.;GCOM1_HUMAN	N	394;363;325;394;394;109	ENSP00000369943:K394N;ENSP00000379483:K363N;ENSP00000369933:K325N;ENSP00000267853:K394N;ENSP00000369942:K394N;ENSP00000431396:K109N	ENSP00000267853:K394N	K	+	3	2	GCOM1	55741002	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	1.086000	0.30853	0.811000	0.34303	0.655000	0.94253	AAG		0.333	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100	
LDHAL6B	92483	broad.mit.edu	37	15	59500058	59500058	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:59500058G>A	ENST00000307144.4	+	1	1017	c.919G>A	c.(919-921)Gat>Aat	p.D307N	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	307					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.D307N(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						ATCTGTGGCCGATTTAACAGA	0.373																																					p.D307N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G919A	15						.						68.0	71.0	70.0					15																	59500058		2191	4290	6481	57287350	SO:0001583	missense	92483	exon1			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.919G>A	15.37:g.59500058G>A	ENSP00000302393:p.Asp307Asn		57287350	NM_033195	Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845406	0.71603	.	.	ENSG00000171989	ENST00000307144	T	0.68331	-0.32	1.47	1.47	0.22746	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000002	T	0.70124	0.3188	M	0.75447	2.3	0.43439	D	0.995619	D	0.56287	0.975	P	0.51945	0.685	T	0.70296	-0.4911	10	0.51188	T	0.08	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	307	Q9BYZ2	LDH6B_HUMAN	N	307	ENSP00000302393:D307N	ENSP00000302393:D307N	D	+	1	0	LDHAL6B	57287350	1.000000	0.71417	0.004000	0.12327	0.639000	0.38242	6.111000	0.71541	0.784000	0.33661	0.305000	0.20034	GAT		0.373	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195	
VPS13C	54832	broad.mit.edu	37	15	62273579	62273579	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:62273579T>G	ENST00000261517.5	-	22	2201	c.2128A>C	c.(2128-2130)Aag>Cag	p.K710Q	VPS13C_ENST00000249837.3_Missense_Mutation_p.K667Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.K667Q|VPS13C_ENST00000395896.4_Missense_Mutation_p.K710Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.K710Q(1)		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						AGATCTGACTTTTCATGGTGG	0.373																																					p.K667Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1999C	15						.						86.0	80.0	82.0					15																	62273579		2203	4300	6503	60060871	SO:0001583	missense	54832	exon20			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.2128A>C	15.37:g.62273579T>G	ENSP00000261517:p.Lys710Gln		60060871	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.758890	0.49468	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.42900	0.96;0.96;0.96	5.92	4.77	0.60923	.	0.696787	0.14843	N	0.295154	T	0.32224	0.0822	L	0.29908	0.895	0.33465	D	0.585414	B;B;B;B	0.22276	0.059;0.059;0.035;0.067	B;B;B;B	0.25506	0.061;0.061;0.026;0.022	T	0.39014	-0.9634	10	0.51188	T	0.08	.	8.8449	0.35164	0.1262:0.0:0.1322:0.7415	.	667;710;667;710	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Q	667;710;710;710	ENSP00000249837:K667Q;ENSP00000261517:K710Q;ENSP00000379233:K710Q	ENSP00000249837:K667Q	K	-	1	0	VPS13C	60060871	0.972000	0.33761	0.999000	0.59377	0.982000	0.71751	2.459000	0.45023	1.036000	0.39998	0.533000	0.62120	AAG		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
TLN2	83660	broad.mit.edu	37	15	63063182	63063182	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:63063182A>C	ENST00000561311.1	+	41	5446	c.5216A>C	c.(5215-5217)tAt>tCt	p.Y1739S	TLN2_ENST00000306829.6_Missense_Mutation_p.Y1739S|TLN2_ENST00000472902.1_Missense_Mutation_p.Y132S			Q9Y4G6	TLN2_HUMAN	talin 2	1739					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Y1739S(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGGCAAGCTATTTTGAGCCC	0.488																																					p.Y1739S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5216C	15						.						117.0	108.0	111.0					15																	63063182		2203	4300	6503	60850474	SO:0001583	missense	83660	exon39			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5216A>C	15.37:g.63063182A>C	ENSP00000453508:p.Tyr1739Ser		60850474	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246361	0.59103	.	.	ENSG00000171914	ENST00000306829	T	0.12569	2.67	5.39	5.39	0.77823	.	0.052243	0.85682	D	0.000000	T	0.17662	0.0424	L	0.55213	1.73	0.80722	D	1	B;B	0.14805	0.011;0.005	B;B	0.23574	0.047;0.035	T	0.01853	-1.1260	10	0.42905	T	0.14	-16.028	15.5825	0.76455	1.0:0.0:0.0:0.0	.	783;1739	G1UI21;Q9Y4G6	.;TLN2_HUMAN	S	1739	ENSP00000303476:Y1739S	ENSP00000303476:Y1739S	Y	+	2	0	TLN2	60850474	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.087000	0.94110	2.263000	0.75096	0.533000	0.62120	TAT		0.488	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
TPM1	7168	broad.mit.edu	37	15	63353119	63353119	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:63353119C>T	ENST00000403994.3	+	5	624	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	TPM1_ENST00000334895.5_Missense_Mutation_p.R146W|TPM1_ENST00000560959.1_Missense_Mutation_p.R146W|TPM1_ENST00000559281.1_Missense_Mutation_p.R146W|TPM1_ENST00000559556.1_Missense_Mutation_p.R182W|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000357980.4_Missense_Mutation_p.R224W|TPM1_ENST00000317516.7_Missense_Mutation_p.R146W|TPM1_ENST00000559397.1_Missense_Mutation_p.R182W|TPM1_ENST00000404484.4_Missense_Mutation_p.R146W|TPM1_ENST00000288398.6_Missense_Mutation_p.R182W|TPM1_ENST00000358278.3_Missense_Mutation_p.R182W|TPM1_ENST00000267996.7_Missense_Mutation_p.R182W	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	182					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.R182W(1)		endometrium(1)|large_intestine(1)|lung(2)	4						TGCAGAGGAGCGGGCTGAGCT	0.592																																					p.R182W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C544T	15						.						80.0	72.0	75.0					15																	63353119		2203	4300	6503	61140172	SO:0001583	missense	7168	exon5			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.544C>T	15.37:g.63353119C>T	ENSP00000385107:p.Arg182Trp		61140172	NM_001018007	B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755509	0.49362	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	D;D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	5.8	2.71	0.32032	.	0.000000	0.48286	D	0.000195	D	0.99450	0.9805	H	0.97940	4.11	0.80722	D	1	B;P;D;B;D;B;P;D;P;D;P;D;B;P	0.89917	0.279;0.907;1.0;0.393;0.988;0.156;0.92;1.0;0.939;0.998;0.864;0.997;0.361;0.92	B;P;D;B;D;B;P;D;P;D;P;D;B;P	0.97110	0.289;0.785;1.0;0.134;0.912;0.097;0.826;0.999;0.846;0.947;0.782;0.927;0.421;0.826	D	0.98760	1.0724	10	0.87932	D	0	-9.8568	14.6036	0.68460	0.3977:0.6023:0.0:0.0	.	146;146;182;148;146;146;182;224;182;182;182;182;182;182	B7Z722;B7Z596;P09493-6;F5H7S3;D9YZV7;Q1ZYL5;D9YZV4;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3;D9YZV2;P09493	.;.;.;.;.;.;.;.;.;.;.;.;.;TPM1_HUMAN	W	182;182;182;182;224;204;146;148	ENSP00000288398:R182W;ENSP00000267996:R182W;ENSP00000351022:R182W;ENSP00000385107:R182W;ENSP00000350667:R224W;ENSP00000334624:R146W	ENSP00000267996:R182W	R	+	1	2	TPM1	61140172	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.710000	0.47169	0.280000	0.22209	0.491000	0.48974	CGG		0.592	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004	
USP3	9960	broad.mit.edu	37	15	63882927	63882927	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:63882927A>G	ENST00000380324.3	+	15	1594	c.1465A>G	c.(1465-1467)Act>Gct	p.T489A	USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.T472A|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.T240A|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.T400A|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.T445A|USP3-AS1_ENST00000561191.1_RNA|USP3_ENST00000268049.7_Missense_Mutation_p.T467A	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	489	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.T489A(1)		endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CAATGACAGTACTGTAACACT	0.468																																					p.T489A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1465G	15						.						183.0	166.0	172.0					15																	63882927		2203	4300	6503	61669980	SO:0001583	missense	9960	exon15			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.1465A>G	15.37:g.63882927A>G	ENSP00000369681:p.Thr489Ala		61669980	NM_006537	B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	A	32	5.143537	0.94603	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	6.07	6.07	0.98685	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.52364	1.645	0.58432	D	0.999999	D;D;P;D	0.54397	0.958;0.966;0.93;0.966	P;P;P;P	0.55577	0.671;0.779;0.718;0.779	T	0.14980	-1.0453	10	0.07325	T	0.83	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	445;445;467;489	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	A	445;489;467;240	ENSP00000445828:T445A;ENSP00000369681:T489A;ENSP00000268049:T467A;ENSP00000445642:T240A	ENSP00000268049:T467A	T	+	1	0	USP3	61669980	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	9.305000	0.96197	2.326000	0.78906	0.533000	0.62120	ACT		0.468	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1		
HERC1	8925	broad.mit.edu	37	15	63944671	63944671	+	Missense_Mutation	SNP	C	C	T	rs373098342		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:63944671C>T	ENST00000443617.2	-	52	10447	c.10360G>A	c.(10360-10362)Gta>Ata	p.V3454I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3454					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.V3454I(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						ACATTCCATACGCGGATGGTG	0.373																																					p.V3454I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10360A	15						.						114.0	111.0	112.0					15																	63944671		1948	4140	6088	61731724	SO:0001583	missense	8925	exon52			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.10360G>A	15.37:g.63944671C>T	ENSP00000390158:p.Val3454Ile		61731724	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614974	0.87359	.	.	ENSG00000103657	ENST00000443617	T	0.59772	0.24	5.98	5.98	0.97165	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	0.64402	D	0.000003	T	0.40619	0.1124	N	0.05608	-0.01	0.54753	D	0.999983	B	0.30104	0.268	B	0.24006	0.05	T	0.25710	-1.0124	10	0.33940	T	0.23	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	3454	Q15751	HERC1_HUMAN	I	3454	ENSP00000390158:V3454I	ENSP00000390158:V3454I	V	-	1	0	HERC1	61731724	0.999000	0.42202	0.894000	0.35097	0.994000	0.84299	4.031000	0.57267	2.838000	0.97847	0.655000	0.94253	GTA		0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	63946356	63946356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:63946356T>A	ENST00000443617.2	-	51	10339	c.10252A>T	c.(10252-10254)Aaa>Taa	p.K3418*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3418					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.K3418*(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						AAGGAGCATTTTCTAAGATCT	0.438																																					p.K3418X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.A10252T	15						.						141.0	134.0	136.0					15																	63946356		1943	4144	6087	61733409	SO:0001587	stop_gained	8925	exon51			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.10252A>T	15.37:g.63946356T>A	ENSP00000390158:p.Lys3418*		61733409	NM_003922	Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	52	19.504553	0.99920	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.6	5.6	0.85130	.	0.134965	0.46758	U	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8283	0.78730	0.0:0.0:0.0:1.0	.	.	.	.	X	3418	.	ENSP00000390158:K3418X	K	-	1	0	HERC1	61733409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.018000	0.88722	2.148000	0.66965	0.477000	0.44152	AAA		0.438	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
PPIB	5479	broad.mit.edu	37	15	64448279	64448279	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:64448279G>T	ENST00000300026.3	-	5	812	c.594C>A	c.(592-594)atC>atA	p.I198I	SNX22_ENST00000325881.4_3'UTR|PPIB_ENST00000558492.1_5'Flank	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	198	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)	p.I198I(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	AGTCTGCGATGATCACATCCT	0.572																																					p.I198I	GBM(105;399 1481 32889 33051 36637)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594A	15						.						182.0	132.0	149.0					15																	64448279		2203	4300	6503	62235332	SO:0001819	synonymous_variant	5479	exon5				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.594C>A	15.37:g.64448279G>T			62235332	NM_000942	A8K534|Q6IBH5|Q9BVK5	Silent	SNP	ENST00000300026.3	37	CCDS10191.1																																																																																				0.572	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1		
RBPMS2	348093	broad.mit.edu	37	15	65041331	65041331	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:65041331C>T	ENST00000300069.4	-	5	553	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RBPMS2_ENST00000560606.1_5'UTR	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	96	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)	p.E96K(1)		breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						TGTGGATTTTCGGGATCAAAG	0.517																																					p.E96K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	15						.						154.0	140.0	145.0					15																	65041331		2202	4299	6501	62828384	SO:0001583	missense	348093	exon5			AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"""RNA binding motif (RRM) containing"""	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.286G>A	15.37:g.65041331C>T	ENSP00000300069:p.Glu96Lys		62828384	NM_194272	A2RRG0	Missense_Mutation	SNP	ENST00000300069.4	37	CCDS32271.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081286	0.76528	.	.	ENSG00000166831	ENST00000300069	T	0.35236	1.32	5.08	5.08	0.68730	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	L	0.55481	1.735	0.80722	D	1	P	0.51147	0.942	P	0.51415	0.669	T	0.46748	-0.9169	10	0.56958	D	0.05	-0.1181	17.4471	0.87581	0.0:1.0:0.0:0.0	.	96	Q6ZRY4	RBPS2_HUMAN	K	96	ENSP00000300069:E96K	ENSP00000300069:E96K	E	-	1	0	RBPMS2	62828384	1.000000	0.71417	0.968000	0.41197	0.115000	0.19883	6.073000	0.71245	2.524000	0.85096	0.563000	0.77884	GAA		0.517	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1		
CILP	8483	broad.mit.edu	37	15	65489134	65489134	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:65489134G>A	ENST00000261883.4	-	9	3656	c.3490C>T	c.(3490-3492)Cgc>Tgc	p.R1164C		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1164					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)		p.R1164C(1)		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						CCACCCTGGCGCTGGCCACCC	0.592																																					p.R1164C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3490T	15						.						39.0	38.0	38.0					15																	65489134		2202	4299	6501	63276187	SO:0001583	missense	8483	exon9			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.3490C>T	15.37:g.65489134G>A	ENSP00000261883:p.Arg1164Cys		63276187	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714031	0.30413	.	.	ENSG00000138615	ENST00000261883	T	0.39997	1.05	5.44	1.15	0.20763	.	0.306943	0.29355	N	0.012392	T	0.29817	0.0745	L	0.46157	1.445	0.19945	N	0.999949	P	0.50617	0.937	B	0.40565	0.333	T	0.22626	-1.0211	10	0.66056	D	0.02	-0.7745	4.9779	0.14149	0.0711:0.1203:0.3151:0.4934	.	1164	O75339	CILP1_HUMAN	C	1164	ENSP00000261883:R1164C	ENSP00000261883:R1164C	R	-	1	0	CILP	63276187	0.001000	0.12720	0.818000	0.32626	0.211000	0.24417	0.475000	0.22164	0.239000	0.21243	0.561000	0.74099	CGC		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
DPP8	54878	broad.mit.edu	37	15	65759140	65759140	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:65759140G>T	ENST00000341861.5	-	14	3329	c.1749C>A	c.(1747-1749)ttC>ttA	p.F583L	DPP8_ENST00000321118.7_Missense_Mutation_p.F583L|DPP8_ENST00000300141.6_Missense_Mutation_p.F567L|DPP8_ENST00000358939.4_Missense_Mutation_p.F567L|DPP8_ENST00000339244.5_Missense_Mutation_p.F410L|DPP8_ENST00000321147.6_Missense_Mutation_p.F583L|DPP8_ENST00000559233.1_Missense_Mutation_p.F583L	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	583					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.F567L(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACTTATAAAGAAGTCACAGT	0.363																																					p.F567L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1701A	15						.						77.0	77.0	77.0					15																	65759140		2201	4299	6500	63546193	SO:0001583	missense	54878	exon14			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1749C>A	15.37:g.65759140G>T	ENSP00000339208:p.Phe583Leu		63546193	NM_017743	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	G	5.715	0.316510	0.10845	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.48	2.39	0.29439	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.154913	0.42548	D	0.000692	T	0.10423	0.0255	N	0.04508	-0.205	0.31304	N	0.687917	B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.001;0.0;0.0	T	0.15009	-1.0452	10	0.13853	T	0.58	-14.6786	3.929	0.09276	0.0929:0.3507:0.4254:0.131	.	410;567;567;583;583	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	L	583;567;567;583;583;410;583	ENSP00000339208:F583L;ENSP00000351817:F567L;ENSP00000300141:F567L;ENSP00000318111:F583L;ENSP00000316373:F583L;ENSP00000341230:F410L;ENSP00000379013:F583L	ENSP00000300141:F567L	F	-	3	2	DPP8	63546193	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.395000	0.44459	1.333000	0.45449	0.298000	0.19748	TTC		0.363	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743	
DENND4A	10260	broad.mit.edu	37	15	65962360	65962360	+	Missense_Mutation	SNP	C	C	T	rs369909860		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:65962360C>T	ENST00000431932.2	-	25	4707	c.4499G>A	c.(4498-4500)cGa>cAa	p.R1500Q	DENND4A_ENST00000443035.3_Missense_Mutation_p.R1543Q	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1500					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.R1502Q(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						CCTTCCAGGTCGTCTTAAATC	0.353																																					p.R1543Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4628A	15						.	C	GLN/ARG,GLN/ARG	0,3662		0,0,1831	71.0	69.0	70.0		4628,4499	5.9	1.0	15		70	1,8167		0,1,4083	no	missense,missense	DENND4A	NM_001144823.1,NM_005848.3	43,43	0,1,5914	TT,TC,CC		0.0122,0.0,0.0085	probably-damaging,probably-damaging	1543/1907,1500/1864	65962360	1,11829	1831	4084	5915	63749414	SO:0001583	missense	10260	exon26			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.4499G>A	15.37:g.65962360C>T	ENSP00000396830:p.Arg1500Gln		63749414	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337271	0.41398	0.0	1.22E-4	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04809	3.55;3.55	5.94	5.94	0.96194	.	0.183822	0.37857	N	0.001904	T	0.07098	0.0180	L	0.35414	1.06	0.39007	D	0.959467	D;D	0.60160	0.987;0.984	P;B	0.45119	0.47;0.389	T	0.49341	-0.8950	10	0.21014	T	0.42	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	1543;1500	E7EPL3;Q7Z401	.;MYCPP_HUMAN	Q	1543;1500	ENSP00000391167:R1543Q;ENSP00000396830:R1500Q	ENSP00000396830:R1500Q	R	-	2	0	DENND4A	63749414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.063000	0.57499	2.820000	0.97059	0.650000	0.86243	CGA		0.353	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DENND4A	10260	broad.mit.edu	37	15	66025127	66025127	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:66025127G>T	ENST00000431932.2	-	8	1278	c.1070C>A	c.(1069-1071)cCt>cAt	p.P357H	DENND4A_ENST00000443035.3_Missense_Mutation_p.P357H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	357	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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.P357H(2)		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						AGATGGAAAAGGAACTTTATG	0.353																																					p.P357H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1070A	15						.						75.0	67.0	70.0					15																	66025127		1839	4079	5918	63812181	SO:0001583	missense	10260	exon8			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.1070C>A	15.37:g.66025127G>T	ENSP00000396830:p.Pro357His		63812181	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894842	0.91962	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.13778	2.56;2.56	5.33	5.33	0.75918	DENN (3);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.58561	-0.7615	10	0.87932	D	0	.	19.0016	0.92836	0.0:0.0:1.0:0.0	.	357;357;357	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	H	357	ENSP00000391167:P357H;ENSP00000396830:P357H	ENSP00000396830:P357H	P	-	2	0	DENND4A	63812181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.539000	0.98076	2.492000	0.84095	0.484000	0.47621	CCT		0.353	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DIS3L	115752	broad.mit.edu	37	15	66599179	66599179	+	Missense_Mutation	SNP	G	G	A	rs200836203		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:66599179G>A	ENST00000319212.4	+	3	361	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319194.5_Missense_Mutation_p.R21Q	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	104					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.R104Q(1)|p.R21Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACAAACTGCGAAACCTGCTG	0.448													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21736	0.0		0.0	False		,,,				2504	0.0				p.R104Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G311A	15						.						143.0	116.0	125.0					15																	66599179		2201	4299	6500	64386233	SO:0001583	missense	115752	exon3				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.311G>A	15.37:g.66599179G>A	ENSP00000321711:p.Arg104Gln		64386233	NM_001143688	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	CCDS45286.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	32	5.165866	0.94768	.	.	ENSG00000166938	ENST00000319194;ENST00000525134;ENST00000319212;ENST00000532580;ENST00000530615	T;T	0.26518	1.73;1.73	5.76	5.76	0.90799	.	0.795993	0.11819	N	0.526413	T	0.51753	0.1693	M	0.81802	2.56	0.80722	D	1	D;D	0.69078	0.995;0.997	P;P	0.57371	0.712;0.819	T	0.43163	-0.9408	10	0.36615	T	0.2	-12.6829	18.9695	0.92709	0.0:0.0:1.0:0.0	.	104;104	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	Q	21;21;104;21;21	ENSP00000321583:R21Q;ENSP00000321711:R104Q	ENSP00000321583:R21Q	R	+	2	0	DIS3L	64386233	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	5.860000	0.69546	2.726000	0.93360	0.655000	0.94253	CGA		0.448	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	
DIS3L	115752	broad.mit.edu	37	15	66618493	66618493	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:66618493G>T	ENST00000319212.4	+	12	2042	c.1992G>T	c.(1990-1992)aaG>aaT	p.K664N	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Missense_Mutation_p.K581N	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	664					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.K664N(1)|p.K581N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGACAAAAAGAACATTCACG	0.542																																					p.K664N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1992T	15						.						93.0	84.0	87.0					15																	66618493		2201	4299	6500	64405547	SO:0001583	missense	115752	exon12				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1992G>T	15.37:g.66618493G>T	ENSP00000321711:p.Lys664Asn		64405547	NM_001143688	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	3.158	-0.172810	0.06421	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.41065	1.01;1.01	5.31	0.82	0.18793	Ribonuclease II/R (2);	0.508870	0.24431	N	0.038581	T	0.25044	0.0608	N	0.20807	0.61	0.52501	D	0.999951	B;B;B	0.12630	0.006;0.005;0.002	B;B;B	0.18871	0.023;0.015;0.006	T	0.05131	-1.0904	10	0.27785	T	0.31	-10.0655	10.1776	0.42948	0.1419:0.4677:0.3904:0.0	.	664;530;664	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	N	581;664	ENSP00000321583:K581N;ENSP00000321711:K664N	ENSP00000321583:K581N	K	+	3	2	DIS3L	64405547	1.000000	0.71417	0.159000	0.22649	0.037000	0.13140	0.961000	0.29267	-0.042000	0.13535	-1.598000	0.00824	AAG		0.542	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	
ZWILCH	55055	broad.mit.edu	37	15	66812982	66812982	+	Missense_Mutation	SNP	G	G	T	rs562042882		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:66812982G>T	ENST00000307897.5	+	6	955	c.575G>T	c.(574-576)aGa>aTa	p.R192I	ZWILCH_ENST00000446801.2_Missense_Mutation_p.R78I|ZWILCH_ENST00000565627.1_Missense_Mutation_p.R78I|RPL4_ENST00000568588.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.R78I|ZWILCH_ENST00000565960.1_3'UTR	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	192					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.R192I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CACAAGAAAAGACATCACTTG	0.294													g|||	1	0.000199681	0.0	0.0	5008	,	,		16392	0.001		0.0	False		,,,				2504	0.0				p.R192I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G575T	15						.						37.0	37.0	37.0					15																	66812982		2186	4285	6471	64600036	SO:0001583	missense	55055	exon6			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.575G>T	15.37:g.66812982G>T	ENSP00000311429:p.Arg192Ile		64600036	NM_017975	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.197024	0.79015	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.55413	0.52;0.52;0.52	5.45	5.45	0.79879	.	0.042755	0.85682	D	0.000000	T	0.69762	0.3147	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72431	-0.4296	10	0.72032	D	0.01	-25.6728	12.2823	0.54771	0.0822:0.0:0.9178:0.0	.	192	Q9H900	ZWILC_HUMAN	I	192;78;78	ENSP00000311429:R192I;ENSP00000402217:R78I;ENSP00000437749:R78I	ENSP00000311429:R192I	R	+	2	0	ZWILCH	64600036	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.900000	0.48687	2.564000	0.86499	0.650000	0.86243	AGA		0.294	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975	
SMAD3	4088	broad.mit.edu	37	15	67457330	67457330	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:67457330G>A	ENST00000327367.4	+	2	614	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SMAD3_ENST00000540846.2_5'UTR|SMAD3_ENST00000537194.2_5'Flank|SMAD3_ENST00000559092.1_Silent_p.T83T|SMAD3_ENST00000439724.3_Missense_Mutation_p.E58K	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	102	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				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)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E102K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAGCCACCACGAGCTACGGGC	0.587																																					p.E58K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172A	15						.						101.0	105.0	103.0					15																	67457330		2201	4299	6500	65244384	SO:0001583	missense	4088	exon2			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.304G>A	15.37:g.67457330G>A	ENSP00000332973:p.Glu102Lys		65244384	NM_001145103	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603091	0.96614	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000439724	T;T	0.75260	-0.92;-0.92	4.39	4.39	0.52855	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.90490	0.7021	H	0.97103	3.94	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.68621	0.959;0.907	D	0.94040	0.7308	10	0.87932	D	0	.	17.1514	0.86779	0.0:0.0:1.0:0.0	.	58;102	B7Z4Z5;P84022	.;SMAD3_HUMAN	K	102;102;58	ENSP00000332973:E102K;ENSP00000401133:E58K	ENSP00000332973:E102K	E	+	1	0	SMAD3	65244384	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.421000	0.97455	2.270000	0.75569	0.561000	0.74099	GAG		0.587	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	
SMAD3	4088	broad.mit.edu	37	15	67477167	67477167	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:67477167G>A	ENST00000327367.4	+	7	1284	c.974G>A	c.(973-975)gGc>gAc	p.G325D	SMAD3_ENST00000540846.2_Missense_Mutation_p.G220D|SMAD3_ENST00000537194.2_Missense_Mutation_p.G130D|SMAD3_ENST00000439724.3_Missense_Mutation_p.G281D	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	325	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				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)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G325D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAGCGCTATGGCTGGCACCCG	0.607																																					p.G281D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G842A	15						.						106.0	92.0	97.0					15																	67477167		2201	4299	6500	65264221	SO:0001583	missense	4088	exon7			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.974G>A	15.37:g.67477167G>A	ENSP00000332973:p.Gly325Asp		65264221	NM_001145103	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640110	0.87760	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29	5.19	5.19	0.71726	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.048586	0.85682	D	0.000000	D	0.98950	0.9643	M	0.87180	2.865	0.80722	D	1	B;B	0.24426	0.095;0.103	B;B	0.38156	0.213;0.266	D	0.99821	1.1047	10	0.72032	D	0.01	.	18.7296	0.91730	0.0:0.0:1.0:0.0	.	281;325	B7Z4Z5;P84022	.;SMAD3_HUMAN	D	325;325;220;281;130	ENSP00000332973:G325D;ENSP00000437757:G220D;ENSP00000401133:G281D;ENSP00000445348:G130D	ENSP00000332973:G325D	G	+	2	0	SMAD3	65264221	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.633000	0.98432	2.412000	0.81896	0.650000	0.86243	GGC		0.607	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	
IQCH	64799	broad.mit.edu	37	15	67636404	67636404	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:67636404T>G	ENST00000335894.4	+	6	578	c.512T>G	c.(511-513)aTt>aGt	p.I171S	IQCH_ENST00000546225.1_De_novo_Start_InFrame|IQCH_ENST00000358767.3_De_novo_Start_InFrame	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	171								p.I171S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTTTTAGGGATTTTAAGTATG	0.373																																					p.I171S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T512G	15						.						78.0	78.0	78.0					15																	67636404		2201	4299	6500	65423458	SO:0001583	missense	64799	exon6			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.512T>G	15.37:g.67636404T>G	ENSP00000336861:p.Ile171Ser		65423458	NM_001031715	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.53|12.53	1.964614|1.964614	0.34659|0.34659	.|.	.|.	ENSG00000103599|ENSG00000103599	ENST00000535744|ENST00000335894	.|T	.|0.58797	.|0.31	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.571606	.|0.18239	.|N	.|0.147318	T|T	0.66509|0.66509	0.2796|0.2796	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D	.|0.54964	.|0.969	.|P	.|0.51615	.|0.675	T|T	0.70389|0.70389	-0.4885|-0.4885	6|10	0.87932|0.87932	D|D	0|0	-0.1294|-0.1294	13.3255|13.3255	0.60457|0.60457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|171	.|Q86VS3	.|IQCH_HUMAN	V|S	170|171	.|ENSP00000336861:I171S	ENSP00000421223:F60V|ENSP00000336861:I171S	F|I	+|+	1|2	0|0	IQCH|IQCH	65423458|65423458	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.818000|0.818000	0.46254|0.46254	4.130000|4.130000	0.57964|0.57964	2.171000|2.171000	0.68590|0.68590	0.459000|0.459000	0.35465|0.35465	TTT|ATT		0.373	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
IQCH	64799	broad.mit.edu	37	15	67665727	67665727	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:67665727G>A	ENST00000335894.4	+	10	1394	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	IQCH_ENST00000360277.4_Missense_Mutation_p.R195H|IQCH_ENST00000546225.1_Missense_Mutation_p.R191H|IQCH_ENST00000358767.3_Missense_Mutation_p.R270H	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	443								p.R443H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AACTGGAATCGCATCAGGACC	0.423																																					p.R443H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1328A	15						.						151.0	129.0	136.0					15																	67665727		2201	4299	6500	65452781	SO:0001583	missense	64799	exon10			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1328G>A	15.37:g.67665727G>A	ENSP00000336861:p.Arg443His		65452781	NM_001031715	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726389	0.48833	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.48522	0.81;0.84;0.81;0.83	5.95	5.95	0.96441	.	0.103913	0.64402	D	0.000002	T	0.57975	0.2090	L	0.58925	1.835	0.30399	N	0.780209	D;D;P;D	0.63046	0.972;0.972;0.841;0.992	B;B;B;P	0.56278	0.375;0.375;0.224;0.795	T	0.59952	-0.7357	10	0.38643	T	0.18	-8.7666	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	191;195;443;270	Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;IQCH_HUMAN;.	H	270;191;443;195	ENSP00000351617:R270H;ENSP00000444118:R191H;ENSP00000336861:R443H;ENSP00000353419:R195H	ENSP00000336861:R443H	R	+	2	0	IQCH	65452781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.347000	0.59373	2.824000	0.97209	0.655000	0.94253	CGC		0.423	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
MAP2K5	5607	broad.mit.edu	37	15	67855642	67855642	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:67855642G>A	ENST00000178640.5	+	3	833	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	MAP2K5_ENST00000395476.2_Missense_Mutation_p.R69Q|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Missense_Mutation_p.R33Q	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	69	OPR.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R69Q(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GATGGTGATCGAATTACAGTG	0.323																																					p.R69Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G206A	15						.						228.0	222.0	224.0					15																	67855642		2201	4298	6499	65642696	SO:0001583	missense	5607	exon3			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.206G>A	15.37:g.67855642G>A	ENSP00000178640:p.Arg69Gln		65642696	NM_145160	B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508257	0.85282	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000439036	T;T;T;T	0.65549	1.98;1.98;1.98;-0.16	5.95	5.95	0.96441	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.77557	0.942;0.983;0.939;0.99	T	0.73936	-0.3825	10	0.87932	D	0	-9.2505	19.9882	0.97356	0.0:0.0:1.0:0.0	.	33;69;69;69	B4DE43;Q13163-2;Q13163;B2RD76	.;.;MP2K5_HUMAN;.	Q	69;69;69;33;2	ENSP00000378859:R69Q;ENSP00000178640:R69Q;ENSP00000346493:R33Q;ENSP00000390196:R2Q	ENSP00000178640:R69Q	R	+	2	0	MAP2K5	65642696	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.055000	0.93873	2.824000	0.97209	0.655000	0.94253	CGA		0.323	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162	
NOX5	79400	broad.mit.edu	37	15	69349006	69349006	+	Silent	SNP	C	C	T	rs373378260		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:69349006C>T	ENST00000388866.3	+	16	2309	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	NOX5_ENST00000448182.3_Silent_p.F710F|NOX5_ENST00000455873.3_Silent_p.F721F|NOX5_ENST00000260364.5_Silent_p.F738F|NOX5_ENST00000530406.2_Silent_p.F728F	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	756					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.F738F(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTGAGAAGTTCGGCTTCAGAT	0.517																																					p.F728F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2184T	15						.						81.0	77.0	79.0					15																	69349006		2200	4298	6498	67136060	SO:0001819	synonymous_variant	79400	exon16			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2268C>T	15.37:g.69349006C>T			67136060	NM_001184779	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																				0.517	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
GLCE	26035	broad.mit.edu	37	15	69548687	69548687	+	Missense_Mutation	SNP	A	A	G	rs561898890		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:69548687A>G	ENST00000261858.2	+	3	770	c.542A>G	c.(541-543)aAt>aGt	p.N181S	GLCE_ENST00000559420.2_Missense_Mutation_p.N117S	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	181					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.N181S(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GAAGGCTACAATGTGGAAGTC	0.438													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19797	0.0		0.0	False		,,,				2504	0.0				p.N181S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A542G	15						.						109.0	109.0	109.0					15																	69548687		2200	4298	6498	67335741	SO:0001583	missense	26035	exon3			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.542A>G	15.37:g.69548687A>G	ENSP00000261858:p.Asn181Ser		67335741	NM_015554	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124032	0.56613	.	.	ENSG00000138604	ENST00000261858	T	0.32272	1.46	5.2	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.52206	1.635	0.58432	D	0.999991	D	0.76494	0.999	D	0.76071	0.987	T	0.41395	-0.9511	10	0.72032	D	0.01	-12.5395	10.6425	0.45600	0.8562:0.0:0.0:0.1438	.	181	O94923	GLCE_HUMAN	S	181	ENSP00000261858:N181S	ENSP00000261858:N181S	N	+	2	0	GLCE	67335741	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	7.282000	0.78630	0.888000	0.36160	0.533000	0.62120	AAT		0.438	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554	
UACA	55075	broad.mit.edu	37	15	70961015	70961015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:70961015C>T	ENST00000322954.6	-	16	2193	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	UACA_ENST00000379983.2_Missense_Mutation_p.E657K|UACA_ENST00000560441.1_Missense_Mutation_p.E655K|UACA_ENST00000539319.1_Missense_Mutation_p.E561K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	670					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.E657K(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCTCAAGTTCTCTCTTTAAC	0.363																																					p.E670K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2008A	15						.						111.0	111.0	111.0					15																	70961015		2199	4297	6496	68748069	SO:0001583	missense	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.2008G>A	15.37:g.70961015C>T	ENSP00000314556:p.Glu670Lys		68748069	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747508	0.49257	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34275	1.37;1.39;1.87	5.61	4.7	0.59300	.	0.376195	0.25517	N	0.030134	T	0.39200	0.1069	L	0.48362	1.52	0.36675	D	0.878745	P;P;P;P	0.48162	0.906;0.842;0.749;0.902	P;B;B;B	0.47430	0.547;0.237;0.172;0.416	T	0.41910	-0.9482	10	0.30078	T	0.28	-13.9969	14.5309	0.67926	0.0:0.9295:0.0:0.0705	.	561;670;670;657	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	670;657;561	ENSP00000314556:E670K;ENSP00000369319:E657K;ENSP00000438667:E561K	ENSP00000314556:E670K	E	-	1	0	UACA	68748069	0.999000	0.42202	0.658000	0.29665	0.997000	0.91878	3.607000	0.54102	1.387000	0.46486	0.491000	0.48974	GAA		0.363	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
UACA	55075	broad.mit.edu	37	15	70976696	70976696	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:70976696G>A	ENST00000322954.6	-	8	877	c.692C>T	c.(691-693)gCg>gTg	p.A231V	UACA_ENST00000379983.2_Missense_Mutation_p.A218V|UACA_ENST00000560441.1_Missense_Mutation_p.A218V|UACA_ENST00000559183.1_5'Flank|UACA_ENST00000539319.1_Intron	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	231					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.A218V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATGGCCAAGCGCATCCAGCAA	0.408																																					p.A231V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692T	15						.						192.0	181.0	185.0					15																	70976696		2199	4297	6496	68763750	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.692C>T	15.37:g.70976696G>A	ENSP00000314556:p.Ala231Val		68763750	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255354	0.80135	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362	T;T	0.52983	0.64;0.64	5.4	4.48	0.54585	Ankyrin repeat-containing domain (3);	0.119029	0.37955	N	0.001868	T	0.43211	0.1237	N	0.12182	0.205	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	P;P;P	0.60117	0.743;0.743;0.869	T	0.35301	-0.9794	10	0.34782	T	0.22	-11.5689	10.1704	0.42906	0.0774:0.1459:0.7767:0.0	.	231;231;218	B7ZKM6;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	V	231;218;218	ENSP00000314556:A231V;ENSP00000369319:A218V	ENSP00000314556:A231V	A	-	2	0	UACA	68763750	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.570000	0.36439	1.416000	0.47057	0.462000	0.41574	GCG		0.408	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
LRRC49	54839	broad.mit.edu	37	15	71341894	71341894	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:71341894T>G	ENST00000260382.5	+	16	2264	c.2004T>G	c.(2002-2004)atT>atG	p.I668M	LRRC49_ENST00000560158.2_Missense_Mutation_p.I356M|LRRC49_ENST00000443425.2_Missense_Mutation_p.I624M|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.I673M|LRRC49_ENST00000560691.1_Missense_Mutation_p.I374M|LRRC49_ENST00000544974.2_Missense_Mutation_p.I658M	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	668						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.I668M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TCATAGAAATTCGCAATAAAA	0.363																																					p.I668M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2004G	15						.						100.0	107.0	104.0					15																	71341894		2199	4297	6496	69128948	SO:0001583	missense	54839	exon16				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.2004T>G	15.37:g.71341894T>G	ENSP00000260382:p.Ile668Met		69128948	NM_017691	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	t	9.086	1.000455	0.19121	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33216	1.43;1.42;1.45	5.33	2.23	0.28157	.	0.226114	0.44483	D	0.000443	T	0.18467	0.0443	N	0.24115	0.695	0.29053	N	0.884381	B;B;B;B;B	0.13594	0.004;0.008;0.008;0.004;0.007	B;B;B;B;B	0.20384	0.013;0.017;0.029;0.008;0.023	T	0.12192	-1.0557	10	0.33940	T	0.23	-5.5517	8.0735	0.30704	0.0:0.7005:0.0:0.2995	.	673;640;624;668;658	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	M	658;668;624;640	ENSP00000439600:I658M;ENSP00000260382:I668M;ENSP00000414065:I624M	ENSP00000260382:I668M	I	+	3	3	LRRC49	69128948	0.878000	0.30173	0.309000	0.25155	0.902000	0.53008	-0.217000	0.09253	0.803000	0.34113	-0.242000	0.12053	ATT		0.363	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	
MYO9A	4649	broad.mit.edu	37	15	72122637	72122637	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:72122637G>A	ENST00000356056.5	-	40	7325	c.6853C>T	c.(6853-6855)Cgt>Tgt	p.R2285C	MYO9A_ENST00000424560.1_Missense_Mutation_p.R2356C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2266C|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2285C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2285	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.R2285C(2)		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						TTTCCTCGACGAATACGCCCC	0.443																																					p.R2285C												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C6853T	15						.						89.0	89.0	89.0					15																	72122637		2199	4297	6496	69909691	SO:0001583	missense	4649	exon40			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.6853C>T	15.37:g.72122637G>A	ENSP00000348349:p.Arg2285Cys		69909691	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325818	0.81580	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85088	-1.93;-1.94;-1.93	4.73	4.73	0.59995	.	.	.	.	.	T	0.80486	0.4632	L	0.41236	1.265	0.42217	D	0.991834	D;P	0.61697	0.99;0.956	B;B	0.39660	0.306;0.257	D	0.84759	0.0761	9	0.72032	D	0.01	.	18.2369	0.89952	0.0:0.0:1.0:0.0	.	2285;2049	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	C	2285;2356;2266	ENSP00000348349:R2285C;ENSP00000399162:R2356C;ENSP00000398250:R2266C	ENSP00000348349:R2285C	R	-	1	0	MYO9A	69909691	0.425000	0.25498	0.781000	0.31783	0.997000	0.91878	3.406000	0.52637	2.615000	0.88500	0.655000	0.94253	CGT		0.443	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72144598	72144598	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:72144598G>A	ENST00000356056.5	-	36	6822	c.6350C>T	c.(6349-6351)gCt>gTt	p.A2117V	MYO9A_ENST00000424560.1_Missense_Mutation_p.A2188V|MYO9A_ENST00000444904.1_Missense_Mutation_p.A2098V|MYO9A_ENST00000564571.1_Missense_Mutation_p.A2117V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2117	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|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.A2117V(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						TACACTCTCAGCATCTATTTA	0.353																																					p.A2117V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6350T	15						.						70.0	66.0	67.0					15																	72144598		2199	4297	6496	69931652	SO:0001583	missense	4649	exon36			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.6350C>T	15.37:g.72144598G>A	ENSP00000348349:p.Ala2117Val		69931652	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008535	0.35415	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.19105	2.17;2.17;2.17	5.93	3.84	0.44239	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.08582	0.0213	N	0.12637	0.245	0.29469	N	0.857203	B;B	0.09022	0.002;0.0	B;B	0.12837	0.008;0.0	T	0.37009	-0.9724	9	0.02654	T	1	.	4.3191	0.11007	0.4417:0.0:0.5583:0.0	.	2117;1881	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	V	2117;2188;2098	ENSP00000348349:A2117V;ENSP00000399162:A2188V;ENSP00000398250:A2098V	ENSP00000348349:A2117V	A	-	2	0	MYO9A	69931652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.452000	0.73485	1.493000	0.48517	0.650000	0.86243	GCT		0.353	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72146846	72146846	+	Missense_Mutation	SNP	C	C	T	rs143713074	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:72146846C>T	ENST00000356056.5	-	35	6690	c.6218G>A	c.(6217-6219)cGa>cAa	p.R2073Q	MYO9A_ENST00000424560.1_Missense_Mutation_p.R2144Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2054Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2073Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2073	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|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.R2073Q(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						AGGAACAGTTCGGTCTTCACT	0.368													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18301	0.0		0.0	False		,,,				2504	0.0				p.R2073Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6218A	15						.	C	GLN/ARG	3,4395	6.2+/-15.9	0,3,2196	127.0	116.0	120.0		6218	6.0	1.0	15	dbSNP_134	120	0,8594		0,0,4297	yes	missense	MYO9A	NM_006901.2	43	0,3,6493	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging	2073/2549	72146846	3,12989	2199	4297	6496	69933900	SO:0001583	missense	4649	exon35			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.6218G>A	15.37:g.72146846C>T	ENSP00000348349:p.Arg2073Gln		69933900	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019266	0.93462	6.82E-4	0.0	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.44083	0.93;0.93;0.93	5.99	5.99	0.97316	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	.	.	.	.	T	0.50017	0.1591	N	0.16066	0.365	0.50171	D	0.999857	D	0.89917	1.0	D	0.80764	0.994	T	0.46748	-0.9169	9	0.31617	T	0.26	.	20.4574	0.99148	0.0:1.0:0.0:0.0	.	2073	B2RTY4	MYO9A_HUMAN	Q	2073;2144;2054	ENSP00000348349:R2073Q;ENSP00000399162:R2144Q;ENSP00000398250:R2054Q	ENSP00000348349:R2073Q	R	-	2	0	MYO9A	69933900	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.050000	0.71063	2.843000	0.97960	0.591000	0.81541	CGA		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72338405	72338405	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:72338405C>T	ENST00000356056.5	-	2	972	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	MYO9A_ENST00000424560.1_Missense_Mutation_p.R167Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R167Q|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.R167Q|MYO9A_ENST00000563542.1_5'UTR|RNU2-65P_ENST00000410162.1_RNA	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	167	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.R167Q(2)		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						AAAGCGATTTCGTAGGTTTTC	0.333																																					p.R167Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G500A	15						.						66.0	71.0	69.0					15																	72338405		2199	4297	6496	70125459	SO:0001583	missense	4649	exon2			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.500G>A	15.37:g.72338405C>T	ENSP00000348349:p.Arg167Gln		70125459	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	27.8	4.861996	0.91433	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87571	-2.27;-2.27;-2.27	5.79	5.79	0.91817	Myosin head, motor domain (2);	.	.	.	.	D	0.88618	0.6485	L	0.31476	0.935	0.80722	D	1	P;P;D	0.56035	0.941;0.941;0.974	B;P;P	0.56865	0.241;0.541;0.808	D	0.88159	0.2856	9	0.46703	T	0.11	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	167;167;167	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Q	167	ENSP00000348349:R167Q;ENSP00000399162:R167Q;ENSP00000398250:R167Q	ENSP00000261864:R167Q	R	-	2	0	MYO9A	70125459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.017000	0.70805	2.745000	0.94114	0.644000	0.83932	CGA		0.333	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
REC114	283677	broad.mit.edu	37	15	73766191	73766191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:73766191G>T	ENST00000331090.6	+	2	206	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	C15orf60_ENST00000560581.1_Nonsense_Mutation_p.E60*	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		60					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.E60*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TTCCAATGAAGAATCTGGATA	0.318																																					p.E60X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G178T	15						.						97.0	85.0	89.0					15																	73766191		1812	4064	5876	71553244	SO:0001587	stop_gained	283677	exon2																														ENST00000331090.6:c.178G>T	15.37:g.73766191G>T	ENSP00000328423:p.Glu60*		71553244	NM_001042367		Nonsense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381281	0.95945	.	.	ENSG00000183324	ENST00000331090	.	.	.	5.69	4.77	0.60923	.	0.252421	0.40469	N	0.001095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-0.2928	10.9639	0.47401	0.0882:0.0:0.9118:0.0	.	.	.	.	X	60	.	ENSP00000328423:E60X	E	+	1	0	C15orf60	71553244	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.078000	0.50096	2.687000	0.91594	0.650000	0.86243	GAA		0.318	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		
PML	5371	broad.mit.edu	37	15	74327802	74327802	+	Intron	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:74327802G>A	ENST00000268058.3	+	7	1806				PML_ENST00000563500.1_3'UTR|PML_ENST00000569477.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.R619H|PML_ENST00000268059.6_Missense_Mutation_p.R667H|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000569965.1_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R667H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGAGCCATCCGCCTTCGCCAT	0.632			T	"""RARA, PAX5"""	"""APL, ALL"""																																p.R619H			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856A	15						.						88.0	80.0	83.0					15																	74327802		2198	4297	6495	72114855	SO:0001627	intron_variant	5371	exon7			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+931G>A	15.37:g.74327802G>A			72114855	NM_033250	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779547	0.31502	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.51	1.59	0.23543	.	.	.	.	.	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	B;B	0.34290	0.447;0.447	B;B	0.19946	0.027;0.027	T	0.15009	-1.0452	8	0.56958	D	0.05	.	4.4689	0.11703	0.1181:0.0:0.6641:0.2178	.	619;667	P29590-13;P29590-8	.;.	H	667;619	.	ENSP00000268059:R667H	R	+	2	0	PML	72114855	0.000000	0.05858	0.008000	0.14137	0.032000	0.12392	-0.661000	0.05311	0.446000	0.26666	-0.258000	0.10820	CGC		0.632	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675	
ISLR2	57611	broad.mit.edu	37	15	74425315	74425315	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:74425315G>A	ENST00000361742.3	+	4	989	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	ISLR2_ENST00000445793.1_Missense_Mutation_p.V74I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.V74I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V74I|ISLR2_ENST00000453268.2_Missense_Mutation_p.V74I|ISLR2_ENST00000565540.1_Missense_Mutation_p.V74I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V74I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	74					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V74I(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTTCGCCGACGTCACACAGGT	0.637																																					p.V74I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	15						.						56.0	49.0	51.0					15																	74425315		2197	4297	6494	72212368	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.220G>A	15.37:g.74425315G>A	ENSP00000355402:p.Val74Ile		72212368	NM_020851	A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057304	0.55325	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	4.66	4.66	0.58398	.	0.078632	0.51477	D	0.000092	T	0.49490	0.1560	N	0.13168	0.305	0.46701	D	0.999165	D	0.63880	0.993	P	0.53722	0.733	T	0.55309	-0.8161	10	0.45353	T	0.12	.	17.5608	0.87906	0.0:0.0:1.0:0.0	.	74	Q6UXK2	ISLR2_HUMAN	I	74	ENSP00000403244:V74I;ENSP00000355402:V74I;ENSP00000411443:V74I;ENSP00000411834:V74I;ENSP00000408872:V74I	ENSP00000355402:V74I	V	+	1	0	ISLR2	72212368	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	6.428000	0.73383	2.151000	0.67156	0.407000	0.27541	GTC		0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
CSK	1445	broad.mit.edu	37	15	75093390	75093390	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:75093390G>A	ENST00000220003.9	+	9	1489	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	CSK_ENST00000439220.2_Missense_Mutation_p.V254M|CSK_ENST00000309470.9_Missense_Mutation_p.V254M|CSK_ENST00000567571.1_Missense_Mutation_p.V254M	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.V254M(1)		central_nervous_system(1)|lung(2)	3						GCTCCTGGGCGTGATCGTGGA	0.627																																					p.V254M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G760A	15						.						97.0	100.0	99.0					15																	75093390		2197	4296	6493	72880443	SO:0001583	missense	1445	exon9				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.760G>A	15.37:g.75093390G>A	ENSP00000220003:p.Val254Met		72880443	NM_004383	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753177	0.89753	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	D;D;D	0.84730	-1.89;-1.89;-1.89	5.4	5.4	0.78164	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.138146	0.47093	D	0.000255	D	0.93103	0.7804	M	0.90425	3.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.67725	0.953	D	0.94225	0.7471	10	0.87932	D	0	-24.9144	14.7423	0.69464	0.0:0.0:0.8546:0.1454	.	254	P41240	CSK_HUMAN	M	254;254;203;254	ENSP00000220003:V254M;ENSP00000414764:V254M;ENSP00000438808:V254M	ENSP00000220003:V254M	V	+	1	0	CSK	72880443	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	9.291000	0.96070	2.527000	0.85204	0.591000	0.81541	GTG		0.627	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383	
CPLX3	594855	broad.mit.edu	37	15	75122506	75122506	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:75122506T>C	ENST00000395018.4	+	3	445	c.288T>C	c.(286-288)ggT>ggC	p.G96G	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	96					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)	p.G96G(1)		large_intestine(2)|lung(2)	4						AGATGGCAGGTGGAGACGTGG	0.612																																					p.G96G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T288C	15						.						60.0	58.0	59.0					15																	75122506		2197	4295	6492	72909559	SO:0001819	synonymous_variant	594855	exon3			BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.288T>C	15.37:g.75122506T>C			72909559	NM_001030005	D3DW66|Q8TEM6|Q9H818	Silent	SNP	ENST00000395018.4	37	CCDS32294.1																																																																																				0.612	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005	
SIN3A	25942	broad.mit.edu	37	15	75699432	75699432	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:75699432T>C	ENST00000394947.3	-	9	1685	c.1371A>G	c.(1369-1371)aaA>aaG	p.K457K	SIN3A_ENST00000360439.4_Silent_p.K457K|SIN3A_ENST00000394949.4_Silent_p.K457K	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.K457K(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						CACCACCATGTTTGCTGGCAT	0.378																																					p.K457K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1371G	15						.						129.0	117.0	121.0					15																	75699432		2197	4294	6491	73486485	SO:0001819	synonymous_variant	25942	exon9			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.1371A>G	15.37:g.75699432T>C			73486485	NM_001145358		Silent	SNP	ENST00000394947.3	37	CCDS10279.1																																																																																				0.378	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
TBC1D2B	23102	broad.mit.edu	37	15	78316614	78316614	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:78316614C>T	ENST00000300584.3	-	6	1353	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.E452K	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	452							Rab GTPase activator activity (GO:0005097)	p.E452K(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ATGATGACCTCGTCCTTGGCT	0.612																																					p.E452K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1354A	15						.						98.0	75.0	83.0					15																	78316614		2196	4293	6489	76103669	SO:0001583	missense	23102	exon6			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.1354G>A	15.37:g.78316614C>T	ENSP00000300584:p.Glu452Lys		76103669	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687255	0.96784	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.11604	2.76;2.76	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.64877	0.93;0.854	T	0.03121	-1.1070	10	0.59425	D	0.04	.	18.0644	0.89386	0.0:1.0:0.0:0.0	.	452;452	Q9UPU7-2;Q9UPU7	.;TBD2B_HUMAN	K	452	ENSP00000387165:E452K;ENSP00000300584:E452K	ENSP00000300584:E452K	E	-	1	0	TBC1D2B	76103669	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.585000	0.67497	2.513000	0.84729	0.491000	0.48974	GAG		0.612	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	
RASGRF1	5923	broad.mit.edu	37	15	79324549	79324549	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:79324549G>A	ENST00000419573.3	-	7	1342	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	RASGRF1_ENST00000558480.2_Silent_p.F356F|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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.F356F(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						GCAGCTTGTCGAAGTCACGGT	0.592																																					p.F356F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1068T	15						.						194.0	113.0	141.0					15																	79324549		2196	4293	6489	77111604	SO:0001819	synonymous_variant	5923	exon7			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.1068C>T	15.37:g.79324549G>A			77111604	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																				0.592	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
TMED3	23423	broad.mit.edu	37	15	79614463	79614463	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:79614463G>A	ENST00000299705.5	+	3	749	c.561G>A	c.(559-561)acG>acA	p.T187T	TMED3_ENST00000558562.1_3'UTR|TMED3_ENST00000424155.2_Intron|TMED3_ENST00000536821.1_Intron	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	187					protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T187T(1)		large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						TTGGCGAGACGATTGCCCTGT	0.572																																					p.T187T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G561A	15						.						102.0	89.0	93.0					15																	79614463		2196	4293	6489	77401518	SO:0001819	synonymous_variant	23423	exon3			BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 22"", ""transmembrane emp24 domain containing 3"""	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.561G>A	15.37:g.79614463G>A			77401518	NM_007364	A8K069|B4DN05|Q2T9F8	Silent	SNP	ENST00000299705.5	37	CCDS10310.1																																																																																				0.572	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364	
ARNT2	9915	broad.mit.edu	37	15	80845042	80845042	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:80845042C>T	ENST00000303329.4	+	10	1181	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Missense_Mutation_p.S328F|ARNT2_ENST00000533983.1_Missense_Mutation_p.S328F	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	339	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|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)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S339F(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GAGTTCTTATCCCGGCATAAC	0.493																																					p.S339F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1016T	15						.						171.0	143.0	152.0					15																	80845042		2203	4300	6503	78632097	SO:0001583	missense	9915	exon10			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1016C>T	15.37:g.80845042C>T	ENSP00000307479:p.Ser339Phe		78632097	NM_014862	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971595	0.92919	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.16457	2.34	5.45	5.45	0.79879	PAS (1);	0.061104	0.64402	D	0.000002	T	0.41858	0.1177	M	0.65320	2	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.21930	-1.0231	10	0.87932	D	0	.	19.2807	0.94051	0.0:1.0:0.0:0.0	.	339	Q9HBZ2	ARNT2_HUMAN	F	328;339;339	ENSP00000307479:S339F	ENSP00000307479:S339F	S	+	2	0	ARNT2	78632097	1.000000	0.71417	0.189000	0.23252	0.995000	0.86356	7.124000	0.77185	2.547000	0.85894	0.467000	0.42956	TCC		0.493	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
TMC3	342125	broad.mit.edu	37	15	81637183	81637183	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:81637183G>T	ENST00000359440.5	-	13	1577	c.1442C>A	c.(1441-1443)cCt>cAt	p.P481H	RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.P482H|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.P481H(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTTTATAAGAGGCATGGTATA	0.498																																					p.P481H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1442A	15						.						100.0	98.0	98.0					15																	81637183		1967	4159	6126	79424238	SO:0001583	missense	342125	exon13			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1442C>A	15.37:g.81637183G>T	ENSP00000352413:p.Pro481His		79424238	NM_001080532		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566861	0.45694	.	.	ENSG00000188869	ENST00000359440	T	0.63580	-0.05	4.37	4.37	0.52481	.	0.314915	0.31210	N	0.008060	T	0.64338	0.2589	M	0.67953	2.075	0.09310	N	1	D;P	0.54397	0.966;0.943	P;P	0.50136	0.632;0.525	T	0.57335	-0.7829	10	0.22706	T	0.39	-16.588	11.0726	0.48012	0.0:0.0:0.8152:0.1848	.	481;481	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	H	481	ENSP00000352413:P481H	ENSP00000352413:P481H	P	-	2	0	TMC3	79424238	0.004000	0.15560	0.353000	0.25747	0.027000	0.11550	1.192000	0.32150	2.244000	0.73946	0.655000	0.94253	CCT		0.498	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
CPEB1	64506	broad.mit.edu	37	15	83224763	83224763	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:83224763G>T	ENST00000562019.1	-	5	1032	c.716C>A	c.(715-717)gCt>gAt	p.A239D	RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000450751.2_Missense_Mutation_p.A164D|CPEB1_ENST00000568757.1_Missense_Mutation_p.A164D|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000563800.1_Missense_Mutation_p.A266D|CPEB1_ENST00000568128.1_Missense_Mutation_p.A239D|CPEB1_ENST00000564522.1_Missense_Mutation_p.A164D|CPEB1_ENST00000423133.2_Missense_Mutation_p.A164D|CPEB1_ENST00000398592.2_Missense_Mutation_p.A13D|CPEB1_ENST00000261723.6_Missense_Mutation_p.A242D|CPEB1_ENST00000398591.2_Missense_Mutation_p.A164D			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	239					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A164D(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCAGCAAGAGCAGCTTGCTC	0.592																																					p.A164D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491A	15						.						48.0	49.0	49.0					15																	83224763		1957	4134	6091	81021818	SO:0001583	missense	64506	exon3			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.716C>A	15.37:g.83224763G>T	ENSP00000457836:p.Ala239Asp		81021818	NM_001079535	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.487278	0.98316	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T	0.07567	3.18;3.18;3.18	5.81	5.81	0.92471	.	0.199317	0.43110	U	0.000607	T	0.12092	0.0294	N	0.22421	0.69	0.54753	D	0.99998	D;P;D;D	0.57571	0.96;0.763;0.96;0.98	P;B;P;P	0.51229	0.572;0.229;0.663;0.663	T	0.18903	-1.0322	10	0.23891	T	0.37	-3.9037	20.0736	0.97735	0.0:0.0:1.0:0.0	.	242;239;239;239	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	D	239;239;164;164;242;13	ENSP00000397526:A164D;ENSP00000381591:A164D;ENSP00000261723:A242D	ENSP00000261723:A242D	A	-	2	0	CPEB1	81021818	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.204000	0.95041	2.748000	0.94277	0.655000	0.94253	GCT		0.592	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594	
AP3B2	8120	broad.mit.edu	37	15	83328419	83328419	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:83328419T>C	ENST00000261722.3	-	26	3349	c.3142A>G	c.(3142-3144)Acc>Gcc	p.T1048A	AP3B2_ENST00000535348.1_Missense_Mutation_p.T1016A|AP3B2_ENST00000535359.1_Missense_Mutation_p.T1067A|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1048					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.T1047A(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCATCCAGGGTCAGCAGAACG	0.557																																					p.X1047W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3141G	15						.						50.0	49.0	49.0					15																	83328419		2018	4180	6198	81125474	SO:0001583	missense	8120	exon26			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3142A>G	15.37:g.83328419T>C	ENSP00000261722:p.Thr1048Ala		81125474	NM_004644	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277384	0.80580	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.57436	0.41;0.4;0.4	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.74647	2.275	0.80722	D	1	D;P;P	0.69078	0.997;0.765;0.765	D;B;B	0.75020	0.985;0.352;0.352	T	0.74200	-0.3742	10	0.52906	T	0.07	-25.1712	14.8796	0.70522	0.0:0.0:0.0:1.0	.	1016;1067;1048	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	A	1048;1016;1067	ENSP00000261722:T1048A;ENSP00000438721:T1016A;ENSP00000440984:T1067A	ENSP00000261722:T1048A	T	-	1	0	AP3B2	81125474	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	6.087000	0.71362	1.982000	0.57802	0.379000	0.24179	ACC		0.557	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		
FSD2	123722	broad.mit.edu	37	15	83456048	83456048	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:83456048C>T	ENST00000334574.8	-	2	276	c.95G>A	c.(94-96)aGa>aAa	p.R32K	FSD2_ENST00000541889.1_Missense_Mutation_p.R32K			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	32								p.R32K(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GAGGTGCAGTCTGTCTTCAGA	0.498																																					p.R32K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G95A	15						.						132.0	126.0	128.0					15																	83456048		1965	4151	6116	81253102	SO:0001583	missense	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.95G>A	15.37:g.83456048C>T	ENSP00000335651:p.Arg32Lys		81253102	NM_001007122	B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415103	0.25552	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.49720	0.77;0.77	4.74	4.74	0.60224	.	0.107365	0.41938	D	0.000784	T	0.38026	0.1025	L	0.47716	1.5	0.28449	N	0.916433	B;B	0.25772	0.134;0.028	B;B	0.15052	0.012;0.012	T	0.25328	-1.0135	10	0.36615	T	0.2	-12.8426	10.4946	0.44770	0.0:0.9126:0.0:0.0874	.	32;32	B7ZM02;A1L4K1	.;FSD2_HUMAN	K	32	ENSP00000335651:R32K;ENSP00000444078:R32K	ENSP00000335651:R32K	R	-	2	0	FSD2	81253102	0.993000	0.37304	0.913000	0.36048	0.090000	0.18270	2.738000	0.47401	2.465000	0.83290	0.655000	0.94253	AGA		0.498	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122	
BNC1	646	broad.mit.edu	37	15	83926833	83926833	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:83926833T>G	ENST00000345382.2	-	5	2431	c.2346A>C	c.(2344-2346)gaA>gaC	p.E782D	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E775D	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	782					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.E782D(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						TCTCCAATGCTTCCTGGCTCA	0.448																																					p.E782D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2346C	15						.						153.0	138.0	143.0					15																	83926833		2203	4300	6503	81717837	SO:0001583	missense	646	exon5			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.2346A>C	15.37:g.83926833T>G	ENSP00000307041:p.Glu782Asp		81717837	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	T	6.259	0.415832	0.11870	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.73	0.525	0.17072	.	0.105185	0.64402	D	0.000004	T	0.14830	0.0358	N	0.03948	-0.315	0.29824	N	0.830626	B;B	0.14012	0.003;0.009	B;B	0.11329	0.006;0.005	T	0.14504	-1.0470	10	0.18710	T	0.47	-24.0479	4.944	0.13980	0.1767:0.2437:0.0:0.5796	.	775;782	F5GY04;Q01954	.;BNC1_HUMAN	D	782;775	ENSP00000307041:E782D	ENSP00000307041:E782D	E	-	3	2	BNC1	81717837	0.948000	0.32251	0.229000	0.23960	0.019000	0.09904	0.759000	0.26461	0.446000	0.26666	-0.376000	0.06991	GAA		0.448	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
SH3GL3	6457	broad.mit.edu	37	15	84245410	84245410	+	Missense_Mutation	SNP	G	G	A	rs149232982		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:84245410G>A	ENST00000427482.2	+	6	847	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	SH3GL3_ENST00000324537.5_Missense_Mutation_p.E189K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.E181K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E189K	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	181	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E189K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GATACCAGACGAAGAAGTCAG	0.383																																					p.E181K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G541A	15						.	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	59.0	62.0	61.0		541	4.1	0.9	15	dbSNP_134	61	0,8600		0,0,4300	no	missense	SH3GL3	NM_003027.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	181/348	84245410	1,13005	2203	4300	6503	82036414	SO:0001583	missense	6457	exon6			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.541G>A	15.37:g.84245410G>A	ENSP00000391372:p.Glu181Lys		82036414	NM_003027	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737331	0.89482	2.27E-4	0.0	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.05	4.14	0.48551	BAR (3);	0.203538	0.50627	D	0.000119	T	0.48333	0.1494	M	0.85945	2.785	0.58432	D	0.999999	P;P;P	0.51933	0.794;0.949;0.844	B;P;B	0.46110	0.083;0.504;0.267	T	0.59736	-0.7398	10	0.72032	D	0.01	-12.9364	12.8835	0.58030	0.0786:0.0:0.9214:0.0	.	181;181;189	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	K	181;181;189;189	ENSP00000391372:E181K;ENSP00000439239:E181K;ENSP00000320092:E189K;ENSP00000397871:E189K	ENSP00000320092:E189K	E	+	1	0	SH3GL3	82036414	1.000000	0.71417	0.948000	0.38648	0.985000	0.73830	6.108000	0.71522	1.255000	0.44051	0.591000	0.81541	GAA		0.383	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
ADAMTSL3	57188	broad.mit.edu	37	15	84539705	84539705	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:84539705C>A	ENST00000286744.5	+	9	1178	c.954C>A	c.(952-954)atC>atA	p.I318I	ADAMTSL3_ENST00000567476.1_Silent_p.I318I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	318						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I318I(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGATTTCATCTTCAAGGTAG	0.423																																					p.I318I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C954A	15						.						71.0	78.0	76.0					15																	84539705		2203	4300	6503	82330709	SO:0001819	synonymous_variant	57188	exon9			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.954C>A	15.37:g.84539705C>A			82330709	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																				0.423	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ADAMTSL3	57188	broad.mit.edu	37	15	84582093	84582093	+	Silent	SNP	C	C	T	rs146658465	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:84582093C>T	ENST00000286744.5	+	16	2174	c.1950C>T	c.(1948-1950)taC>taT	p.Y650Y	ADAMTSL3_ENST00000567476.1_Silent_p.Y650Y	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	650						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y650Y(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTGGGAGTACGCTGGGTTCA	0.532																																					p.Y650Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1950T	15						.	C		1,4405	2.1+/-5.4	0,1,2202	44.0	47.0	46.0		1950	-8.8	0.1	15	dbSNP_134	46	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADAMTSL3	NM_207517.2		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		650/1692	84582093	4,13002	2203	4300	6503	82373097	SO:0001819	synonymous_variant	57188	exon16			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1950C>T	15.37:g.84582093C>T			82373097	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																				0.532	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ADAMTSL3	57188	broad.mit.edu	37	15	84694009	84694009	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:84694009T>G	ENST00000286744.5	+	27	4701	c.4477T>G	c.(4477-4479)Tca>Gca	p.S1493A	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1493A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1493	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1493A(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGTGTGTGGTCACAGTGCTC	0.507																																					p.S1493A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4477G	15						.						170.0	136.0	148.0					15																	84694009		2203	4299	6502	82485013	SO:0001583	missense	57188	exon27			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4477T>G	15.37:g.84694009T>G	ENSP00000286744:p.Ser1493Ala		82485013	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504464	0.64410	.	.	ENSG00000156218	ENST00000286744	T	0.62639	0.01	5.15	5.15	0.70609	.	0.000000	0.31404	N	0.007711	T	0.81168	0.4766	M	0.89968	3.075	0.35996	D	0.837053	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.994	D	0.85850	0.1403	10	0.34782	T	0.22	.	12.8459	0.57829	0.0:0.0:0.0:1.0	.	1493;1493	P82987-2;P82987	.;ATL3_HUMAN	A	1493	ENSP00000286744:S1493A	ENSP00000286744:S1493A	S	+	1	0	ADAMTSL3	82485013	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	4.464000	0.60134	2.150000	0.67090	0.533000	0.62120	TCA		0.507	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ZSCAN2	54993	broad.mit.edu	37	15	85163836	85163836	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:85163836T>G	ENST00000448803.2	+	3	702	c.410T>G	c.(409-411)tTt>tGt	p.F137C	ZSCAN2_ENST00000541040.1_Missense_Mutation_p.F137C|ZSCAN2_ENST00000358472.3_5'UTR|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.F136C|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.F137C|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.F137C|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.F137C	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	137					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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.F137C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTTTCAGATTTTGAGATACAG	0.358																																					p.F137C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T410G	15						.						91.0	101.0	98.0					15																	85163836		2202	4299	6501	82964840	SO:0001583	missense	54993	exon3			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.410T>G	15.37:g.85163836T>G	ENSP00000410198:p.Phe137Cys		82964840	NM_181877	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	CCDS10329.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.04|18.04	3.535283|3.535283	0.64972|0.64972	.|.	.|.	ENSG00000176371|ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000327179;ENST00000541040;ENST00000538076;ENST00000485222;ENST00000379353|ENST00000540936	T;T;T;T;T;T|T	0.06528|0.32272	3.29;3.29;3.29;3.44;3.41;3.43|1.46	4.79|4.79	4.79|4.79	0.61399|0.61399	Transcription regulator SCAN (1);|.	0.217716|.	0.33075|.	N|.	0.005306|.	T|T	0.42337|0.42337	0.1198|0.1198	L|L	0.55481|0.55481	1.735|1.735	0.43965|0.43965	D|D	0.996648|0.996648	D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.999;0.999|.	D;D;D;D;D|.	0.87578|.	0.951;0.998;0.912;0.957;0.957|.	T|T	0.34004|0.34004	-0.9846|-0.9846	10|7	0.38643|0.62326	T|D	0.18|0.03	-11.6382|-11.6382	12.3133|12.3133	0.54940|0.54940	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	137;137;137;137;137|.	F5H3F3;F5GY18;F5GZ04;A8K5A9;Q7Z7L9|.	.;.;.;.;ZSCA2_HUMAN|.	C|V	137;137;136;137;137;137;118|93	ENSP00000410198:F137C;ENSP00000445451:F137C;ENSP00000325123:F136C;ENSP00000441342:F137C;ENSP00000439132:F137C;ENSP00000440004:F137C|ENSP00000446041:L93V	ENSP00000325123:F136C|ENSP00000446041:L93V	F|L	+|+	2|1	0|2	ZSCAN2|ZSCAN2	82964840|82964840	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	2.389000|2.389000	0.44407|0.44407	2.000000|2.000000	0.58554|0.58554	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.358	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894	
ZSCAN2	54993	broad.mit.edu	37	15	85165243	85165243	+	Missense_Mutation	SNP	G	G	T	rs566014594	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:85165243G>T	ENST00000448803.2	+	3	2109	c.1817G>T	c.(1816-1818)aGa>aTa	p.R606I	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.R456I|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.R605I|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.R606I|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	606					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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.R606I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACACATCAGAGAACTCACATG	0.483																																					p.R606I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1817T	15						.						57.0	63.0	61.0					15																	85165243		2203	4299	6502	82966247	SO:0001583	missense	54993	exon3			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1817G>T	15.37:g.85165243G>T	ENSP00000410198:p.Arg606Ile		82966247	NM_181877	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275482	0.80580	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	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	0.56097	D	0.000024	T	0.51584	0.1683	M	0.71920	2.185	0.80722	D	1	D;D	0.61697	0.99;0.986	P;P	0.61477	0.889;0.737	T	0.51568	-0.8689	9	.	.	.	-31.129	15.8723	0.79129	0.0:0.0:1.0:0.0	.	606;606	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	I	606;606;456;605;587	ENSP00000410198:R606I;ENSP00000445451:R606I;ENSP00000351257:R456I;ENSP00000325123:R605I	.	R	+	2	0	ZSCAN2	82966247	0.125000	0.22332	1.000000	0.80357	0.994000	0.84299	2.129000	0.42055	2.346000	0.79739	0.655000	0.94253	AGA		0.483	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894	
ZNF592	9640	broad.mit.edu	37	15	85326514	85326514	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:85326514A>C	ENST00000560079.2	+	4	896	c.608A>C	c.(607-609)aAa>aCa	p.K203T	ZNF592_ENST00000299927.3_Missense_Mutation_p.K203T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	203					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.K203T(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)			TTTTGTAAGAAAGAACCCAAG	0.572																																					p.K203T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A608C	15						.						56.0	70.0	66.0					15																	85326514		2200	4296	6496	83127518	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.608A>C	15.37:g.85326514A>C	ENSP00000452877:p.Lys203Thr		83127518	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.231812	0.39399	.	.	ENSG00000166716	ENST00000299927	T	0.00634	6.07	5.87	4.75	0.60458	.	0.397652	0.29396	N	0.012278	T	0.01061	0.0035	N	0.08118	0	0.34998	D	0.755658	D	0.89917	1.0	D	0.85130	0.997	T	0.77890	-0.2419	10	0.25106	T	0.35	-3.8106	9.9806	0.41811	0.9205:0.0:0.0795:0.0	.	203	Q92610	ZN592_HUMAN	T	203	ENSP00000299927:K203T	ENSP00000299927:K203T	K	+	2	0	ZNF592	83127518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.218000	0.58554	1.055000	0.40461	0.533000	0.62120	AAA		0.572	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
ALPK3	57538	broad.mit.edu	37	15	85407867	85407867	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:85407867A>C	ENST00000258888.5	+	12	5467	c.5300A>C	c.(5299-5301)aAt>aCt	p.N1767T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1767	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N1767T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGTGGACAAATGGCAGCTTC	0.562																																					p.N1767T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5300C	15						.						122.0	97.0	105.0					15																	85407867		2203	4299	6502	83208871	SO:0001583	missense	57538	exon12			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5300A>C	15.37:g.85407867A>C	ENSP00000258888:p.Asn1767Thr		83208871	NM_020778	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119019	0.77323	.	.	ENSG00000136383	ENST00000258888	T	0.08282	3.11	5.62	5.62	0.85841	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.060703	0.64402	D	0.000003	T	0.23926	0.0579	L	0.53249	1.67	0.36623	D	0.87587	D;D	0.69078	0.996;0.997	D;D	0.72625	0.951;0.978	T	0.05321	-1.0892	10	0.72032	D	0.01	-20.53	13.7891	0.63128	1.0:0.0:0.0:0.0	.	68;1767	B4DU37;Q96L96	.;ALPK3_HUMAN	T	1767	ENSP00000258888:N1767T	ENSP00000258888:N1767T	N	+	2	0	ALPK3	83208871	1.000000	0.71417	0.522000	0.27862	0.994000	0.84299	8.826000	0.92034	2.140000	0.66376	0.460000	0.39030	AAT		0.562	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
PDE8A	5151	broad.mit.edu	37	15	85664166	85664166	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:85664166C>T	ENST00000310298.4	+	19	2125	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	PDE8A_ENST00000557957.1_Silent_p.L553L|PDE8A_ENST00000394553.1_Silent_p.L625L|PDE8A_ENST00000339708.5_Silent_p.L579L			O60658	PDE8A_HUMAN	phosphodiesterase 8A	625	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.L625L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CACTGCTGTGCTGGAGAGCCA	0.483																																					p.L625L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1873T	15						.						119.0	96.0	104.0					15																	85664166		2203	4299	6502	83465170	SO:0001819	synonymous_variant	5151	exon18			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1873C>T	15.37:g.85664166C>T			83465170	NM_002605	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	CCDS10336.1																																																																																				0.483	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	
MRPS11	64963	broad.mit.edu	37	15	89018411	89018411	+	Missense_Mutation	SNP	C	C	T	rs149047976		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:89018411C>T	ENST00000325844.4	+	4	617	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	118					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R118W(1)		large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGAGGGATTTCGGAATGCCAA	0.517																																					p.R118W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C352T	15						.	C	TRP/ARG,TRP/ARG	3,4399	4.2+/-10.8	0,3,2198	120.0	103.0	109.0		352,253	4.3	1.0	15	dbSNP_134	109	0,8598		0,0,4299	yes	missense,missense	MRPS11	NM_022839.3,NM_176805.2	101,101	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging,probably-damaging	118/195,85/162	89018411	3,12997	2201	4299	6500	86819415	SO:0001583	missense	64963	exon4			AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"""Mitochondrial ribosomal proteins / small subunits"""	14050	protein-coding gene	gene with protein product	"""cervical cancer proto-oncogene 2"""	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.352C>T	15.37:g.89018411C>T	ENSP00000317376:p.Arg118Trp		86819415	NM_022839	B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	ENST00000325844.4	37	CCDS10342.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049306	0.36181	6.82E-4	0.0	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.37235	1.32;1.21	5.31	4.32	0.51571	.	0.113323	0.56097	D	0.000033	T	0.62780	0.2456	M	0.87269	2.87	0.40465	D	0.980286	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.971;0.99;0.983	T	0.70200	-0.4937	10	0.87932	D	0	-14.4484	12.2988	0.54862	0.2645:0.7355:0.0:0.0	.	117;85;118	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	W	118;85	ENSP00000317376:R118W;ENSP00000318054:R85W	ENSP00000317376:R118W	R	+	1	2	MRPS11	86819415	0.976000	0.34144	0.989000	0.46669	0.900000	0.52787	1.300000	0.33436	2.479000	0.83701	0.655000	0.94253	CGG		0.517	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839	
ACAN	176	broad.mit.edu	37	15	89401981	89401982	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:89401981_89401982CC>TT	ENST00000561243.1	+	11	6165_6166	c.6165_6166CC>TT	c.(6163-6168)ggCCaa>ggTTaa	p.Q2056*	ACAN_ENST00000439576.2_Nonsense_Mutation_p.Q2056*|ACAN_ENST00000352105.7_Nonsense_Mutation_p.Q2056*|ACAN_ENST00000559004.1_Nonsense_Mutation_p.Q2056*			P16112	PGCA_HUMAN	aggrecan	2064	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.G1941>?(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)			AGGAACTAGGCCAAAGGCCCCC	0.53																																					.												.	.	1	Complex(1)	large_intestine(1)	c.6165_6166TT	15						.																																			87202986	SO:0001587	stop_gained	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	Exception_encountered	15.37:g.89401981_89401982delinsTT	ENSP00000453342:p.Gln2056*		87202985	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Nonsense_Mutation	DNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.530	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
RLBP1	6017	broad.mit.edu	37	15	89758308	89758308	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:89758308C>A	ENST00000268125.5	-	6	947	c.508G>T	c.(508-510)Gaa>Taa	p.E170*		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	170	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.E170*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AAGGTGATTTCTTGACTTTGC	0.577																																					p.E170X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G508T	15						.						114.0	108.0	110.0					15																	89758308		2200	4299	6499	87559312	SO:0001587	stop_gained	6017	exon6			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.508G>T	15.37:g.89758308C>A	ENSP00000268125:p.Glu170*		87559312	NM_000326	B2R667	Nonsense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	C	39	7.666349	0.98422	.	.	ENSG00000140522	ENST00000268125	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7287	17.8642	0.88791	0.0:1.0:0.0:0.0	.	.	.	.	X	170	.	ENSP00000268125:E170X	E	-	1	0	RLBP1	87559312	1.000000	0.71417	0.844000	0.33320	0.587000	0.36485	7.273000	0.78527	2.229000	0.72834	0.561000	0.74099	GAA		0.577	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326	
WDR93	56964	broad.mit.edu	37	15	90281451	90281451	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:90281451C>T	ENST00000268130.7	+	16	2046	c.1945C>T	c.(1945-1947)Cgt>Tgt	p.R649C	WDR93_ENST00000560294.1_Missense_Mutation_p.R621C|WDR93_ENST00000444934.2_Missense_Mutation_p.R366C	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	649					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.R649C(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)			GAGATGTGAGCGTTTCCTCCA	0.473																																					p.R649C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1945T	15						.						171.0	173.0	172.0					15																	90281451		2200	4299	6499	88082455	SO:0001583	missense	56964	exon16				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.1945C>T	15.37:g.90281451C>T	ENSP00000268130:p.Arg649Cys		88082455	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387827	0.42308	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.43688	1.94;0.94	5.27	-2.13	0.07144	.	3.609450	0.00520	N	0.000193	T	0.33118	0.0852	N	0.22421	0.69	0.09310	N	0.999998	P;D	0.57571	0.949;0.98	P;P	0.47744	0.458;0.556	T	0.25537	-1.0129	10	0.52906	T	0.07	3.3554	3.3844	0.07266	0.3135:0.3969:0.2051:0.0845	.	621;649	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	C	649;366	ENSP00000268130:R649C;ENSP00000403871:R366C	ENSP00000268130:R649C	R	+	1	0	WDR93	88082455	0.001000	0.12720	0.027000	0.17364	0.009000	0.06853	-0.480000	0.06559	-0.076000	0.12775	0.650000	0.86243	CGT		0.473	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212	
PRC1	9055	broad.mit.edu	37	15	91510388	91510388	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:91510388G>A	ENST00000361188.5	-	14	3005	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_3'UTR|PRC1_ENST00000394249.3_Silent_p.I612I|PRC1_ENST00000442656.2_3'UTR					protein regulator of cytokinesis 1									p.I612I(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)					TTGAATTGAGGATTCCAGAAG	0.458																																					p.I612I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1836T	15						.						141.0	135.0	137.0					15																	91510388		2198	4298	6496	89311392	SO:0001819	synonymous_variant	9055	exon15			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.1794C>T	15.37:g.91510388G>A			89311392	NM_003981		Silent	SNP	ENST00000361188.5	37	CCDS45352.1																																																																																				0.458	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	
SV2B	9899	broad.mit.edu	37	15	91827399	91827399	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:91827399G>T	ENST00000394232.1	+	11	2126	c.1656G>T	c.(1654-1656)ggG>ggT	p.G552G	SV2B_ENST00000545111.2_Silent_p.G401G|SV2B_ENST00000330276.4_Silent_p.G552G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	552					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.G552G(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)			TCTTACCCGGGAACATCATTT	0.537																																					p.G552G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1656T	15						.						122.0	110.0	114.0					15																	91827399		2198	4298	6496	89628403	SO:0001819	synonymous_variant	9899	exon12			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.1656G>T	15.37:g.91827399G>T			89628403	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																				0.537	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
CHD2	1106	broad.mit.edu	37	15	93492217	93492217	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:93492217G>T	ENST00000394196.4	+	13	2481	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N	CHD2_ENST00000557381.1_Missense_Mutation_p.K471N|CHD2_ENST00000420239.2_Missense_Mutation_p.K471N|CHD2_ENST00000536619.1_Missense_Mutation_p.K484N	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	471					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.K471N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAGCTTTAAAGAAACAACCTG	0.423																																					p.K471N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1413T	15						.						102.0	97.0	99.0					15																	93492217		2197	4298	6495	91293221	SO:0001583	missense	1106	exon13			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1413G>T	15.37:g.93492217G>T	ENSP00000377747:p.Lys471Asn		91293221	NM_001042572	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930322	0.73327	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.93488	-3.23;-3.23;0.74;0.73	5.66	2.18	0.27775	.	0.000000	0.35495	U	0.003172	D	0.93288	0.7861	M	0.81341	2.54	0.58432	D	0.999995	P;B;B	0.37824	0.609;0.146;0.34	B;B;B	0.43916	0.436;0.076;0.155	D	0.91164	0.4963	10	0.46703	T	0.11	-8.8468	9.7427	0.40429	0.3305:0.0:0.6695:0.0	.	484;471;471	B7Z3I4;O14647;O14647-2	.;CHD2_HUMAN;.	N	471;471;471;484	ENSP00000377747:K471N;ENSP00000451366:K471N;ENSP00000406581:K471N;ENSP00000443618:K484N	ENSP00000377747:K471N	K	+	3	2	CHD2	91293221	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.026000	0.49689	0.686000	0.31488	0.650000	0.86243	AAG		0.423	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
SYNM	23336	broad.mit.edu	37	15	99669621	99669621	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:99669621A>C	ENST00000560674.1	+	4	667	c.198A>C	c.(196-198)gaA>gaC	p.E66D	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.E351D|SYNM_ENST00000336292.6_Missense_Mutation_p.E351D			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	352	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E351D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TACAGAGGGAAAATGAAAGGA	0.398																																					p.K352T	Pancreas(125;1071 1762 21750 40003 40381)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1055C	15						.						118.0	117.0	118.0					15																	99669621		1870	4105	5975	97487144	SO:0001583	missense	23336	exon4			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.198A>C	15.37:g.99669621A>C	ENSP00000453040:p.Glu66Asp		97487144	NM_015286	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	A	12.77	2.036721	0.35893	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.84146	-1.81;-1.81	5.43	0.371	0.16168	.	.	.	.	.	T	0.78214	0.4248	.	.	.	0.25107	N	0.990741	P;P	0.43094	0.799;0.651	B;B	0.38378	0.272;0.272	T	0.66984	-0.5785	8	0.87932	D	0	.	8.2819	0.31906	0.6862:0.0:0.3138:0.0	.	352;351	O15061;C9JIE4	SYNEM_HUMAN;.	D	351	ENSP00000336775:E351D;ENSP00000330469:E351D	ENSP00000330469:E351D	E	+	3	2	SYNM	97487144	0.999000	0.42202	0.908000	0.35775	0.247000	0.25773	0.751000	0.26348	-0.179000	0.10654	0.477000	0.44152	GAA		0.398	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
MEF2A	4205	broad.mit.edu	37	15	100252748	100252748	+	Silent	SNP	G	G	A	rs541112324	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:100252748G>A	ENST00000557785.1	+	11	1615	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	MEF2A_ENST00000453228.2_Silent_p.P422P|MEF2A_ENST00000449277.2_Silent_p.P354P|MEF2A_ENST00000354410.5_Silent_p.P424P|MEF2A_ENST00000558812.1_Silent_p.P362P|MEF2A_ENST00000557942.1_Silent_p.P430P|MEF2A_ENST00000338042.6_Silent_p.P431P	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	432	Gln/Pro-rich.				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.P422P(3)|p.P424P(3)|p.P432P(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)			agcagcCGCCGCCACCACCGC	0.642													G|||	176	0.0351438	0.0204	0.049	5008	,	,		8872	0.0347		0.0368	False		,,,				2504	0.044				p.P424P												.	.	7	Substitution - coding silent(7)	large_intestine(4)|endometrium(3)	c.G1272A	15	GRCh37	CD068109	MEF2A	D		.																																			98070271	SO:0001819	synonymous_variant	4205	exon11				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.1266G>A	15.37:g.100252748G>A			98070271	NM_005587	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Silent	SNP	ENST00000557785.1	37	CCDS53978.1																																																																																				0.642	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		
ADAMTS17	170691	broad.mit.edu	37	15	100589186	100589186	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:100589186T>C	ENST00000268070.4	-	18	2572	c.2467A>G	c.(2467-2469)Acc>Gcc	p.T823A		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	823	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T823A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GAGACGATGGTTCTGCGCTCC	0.577																																					p.T823A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2467G	15						.						129.0	97.0	108.0					15																	100589186		2203	4300	6503	98406709	SO:0001583	missense	170691	exon18			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2467A>G	15.37:g.100589186T>C	ENSP00000268070:p.Thr823Ala		98406709	NM_139057	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.430826	0.43122	.	.	ENSG00000140470	ENST00000268070	T	0.60548	0.18	4.59	4.59	0.56863	.	0.068617	0.56097	D	0.000039	T	0.45418	0.1341	L	0.39020	1.185	0.54753	D	0.999989	P	0.43287	0.802	B	0.38616	0.277	T	0.36335	-0.9752	10	0.17832	T	0.49	.	14.2784	0.66196	0.0:0.0:0.0:1.0	.	823	Q8TE56	ATS17_HUMAN	A	823	ENSP00000268070:T823A	ENSP00000268070:T823A	T	-	1	0	ADAMTS17	98406709	1.000000	0.71417	0.995000	0.50966	0.494000	0.33585	7.275000	0.78548	1.826000	0.53198	0.533000	0.62120	ACC		0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
ALDH1A3	220	broad.mit.edu	37	15	101434258	101434258	+	Missense_Mutation	SNP	G	G	A	rs371736673		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:101434258G>A	ENST00000329841.5	+	6	1169	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	213					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.A213T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACCTCTCACCGCCCTTTATCT	0.547																																					p.A213T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G637A	15						.	G	THR/ALA	0,4406		0,0,2203	128.0	126.0	127.0		637	4.7	0.9	15		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALDH1A3	NM_000693.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	213/513	101434258	1,13005	2203	4300	6503	99251781	SO:0001583	missense	220	exon6			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.637G>A	15.37:g.101434258G>A	ENSP00000332256:p.Ala213Thr		99251781	NM_000693	Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599009	0.66332	0.0	1.16E-4	ENSG00000184254	ENST00000329841	T	0.19250	2.16	5.69	4.69	0.59074	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.165528	0.53938	D	0.000049	T	0.25531	0.0621	L	0.42008	1.315	0.39756	D	0.971965	D	0.53312	0.959	P	0.48166	0.569	T	0.02424	-1.1161	10	0.87932	D	0	.	13.3899	0.60818	0.0:0.0:0.7297:0.2703	.	213	P47895	AL1A3_HUMAN	T	213	ENSP00000332256:A213T	ENSP00000332256:A213T	A	+	1	0	ALDH1A3	99251781	0.160000	0.22878	0.856000	0.33681	0.563000	0.35712	0.879000	0.28146	2.664000	0.90586	0.655000	0.94253	GCC		0.547	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		
LRRK1	79705	broad.mit.edu	37	15	101550751	101550751	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:101550751T>G	ENST00000388948.3	+	8	1445	c.1086T>G	c.(1084-1086)aaT>aaG	p.N362K	LRRK1_ENST00000284395.5_Missense_Mutation_p.N359K	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.N335K(1)|p.N362K(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTCAAAAAATTGTTTAGAAA	0.358																																					p.N362K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1086G	15						.						63.0	61.0	62.0					15																	101550751		1809	4075	5884	99368274	SO:0001583	missense	79705	exon8			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1086T>G	15.37:g.101550751T>G	ENSP00000373600:p.Asn362Lys		99368274	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.549638	0.65311	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.37915	1.17;1.17	5.87	-5.28	0.02755	.	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	H	0.98407	4.225	0.43457	D	0.995657	D	0.89917	1.0	D	0.83275	0.996	T	0.81760	-0.0785	10	0.72032	D	0.01	.	19.9722	0.97289	0.0:0.7579:0.0:0.2421	.	362	Q38SD2	LRRK1_HUMAN	K	362;359	ENSP00000373600:N362K;ENSP00000284395:N359K	ENSP00000284395:N359K	N	+	3	2	LRRK1	99368274	0.105000	0.21958	0.047000	0.18901	0.954000	0.61252	-0.807000	0.04520	-1.375000	0.02129	-0.993000	0.02533	AAT		0.358	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
CHSY1	22856	broad.mit.edu	37	15	101718211	101718211	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:101718211G>A	ENST00000254190.3	-	3	2266	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	597					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)	p.A597A(1)		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)			TCTGCATGTCGGCTTTAGGGT	0.468																																					p.A597A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1791T	15						.						64.0	59.0	61.0					15																	101718211		2203	4300	6503	99535734	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.1791C>T	15.37:g.101718211G>A			99535734	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	CCDS10390.1																																																																																				0.468	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
CHSY1	22856	broad.mit.edu	37	15	101718369	101718369	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:101718369C>T	ENST00000254190.3	-	3	2108	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	545					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)	p.D545N(1)		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)			ACAAACATGTCGAAACGCCCA	0.448																																					p.D545N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1633A	15						.						87.0	87.0	87.0					15																	101718369		2203	4300	6503	99535892	SO:0001583	missense	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.1633G>A	15.37:g.101718369C>T	ENSP00000254190:p.Asp545Asn		99535892	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131017	0.77549	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.36340	1.26	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	M	0.64997	1.995	0.58432	D	0.999999	P	0.42039	0.769	B	0.39379	0.298	T	0.34179	-0.9839	10	0.48119	T	0.1	-62.8727	20.063	0.97692	0.0:1.0:0.0:0.0	.	545	Q86X52	CHSS1_HUMAN	N	545;273	ENSP00000254190:D545N	ENSP00000254190:D545N	D	-	1	0	CHSY1	99535892	1.000000	0.71417	0.976000	0.42696	0.989000	0.77384	5.909000	0.69923	2.735000	0.93741	0.655000	0.94253	GAC		0.448	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
PCSK6	5046	broad.mit.edu	37	15	101972253	101972253	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr15:101972253C>T	ENST00000348070.1	-	4	451	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	PCSK6_ENST00000344273.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000331826.7_5'Flank|PCSK6_ENST00000358417.3_Missense_Mutation_p.R151Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	152					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.R151Q(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGGTCACTTCGCACCTGTCT	0.483																																					p.A151A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G453A	15						.						97.0	114.0	109.0					15																	101972253		1943	4128	6071	99789776	SO:0001583	missense	5046	exon3				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.452G>A	15.37:g.101972253C>T	ENSP00000305056:p.Arg151Gln		99789776	NM_138322	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37		.	.	.	.	.	.	.	.	.	.	C	14.18	2.457088	0.43634	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.64	3.71	0.42584	.	0.391386	0.23508	N	0.047431	T	0.30759	0.0775	L	0.37561	1.115	0.26164	N	0.979957	B;B;B;B;B;B;B;B;B	0.26363	0.014;0.008;0.013;0.147;0.051;0.091;0.043;0.068;0.024	B;B;B;B;B;B;B;B;B	0.18263	0.002;0.002;0.011;0.021;0.004;0.009;0.008;0.013;0.004	T	0.16808	-1.0390	10	0.38643	T	0.18	-11.3901	10.7966	0.46464	0.0:0.7979:0.1303:0.0719	.	152;57;151;152;151;151;152;152;151	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Q	151;151;56;151;151	ENSP00000305056:R151Q;ENSP00000351193:R151Q;ENSP00000344410:R151Q;ENSP00000381243:R151Q	ENSP00000344410:R151Q	R	-	2	0	PCSK6	99789776	0.968000	0.33430	0.828000	0.32881	0.962000	0.63368	2.360000	0.44151	1.355000	0.45865	0.555000	0.69702	CGA		0.483	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
PPL	5493	broad.mit.edu	37	16	4934479	4934480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:4934479_4934480insC	ENST00000345988.2	-	22	4265_4266	c.4176_4177insG	c.(4174-4179)ctgcagfs	p.Q1393fs	PPL_ENST00000590782.2_Frame_Shift_Ins_p.Q1391fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1393					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.Q1393fs*8(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						CGCCGGCGCTGCAGCCGCCGCA	0.718																																					p.Q1393fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.4177_4178insG	16						.																																			4874481	SO:0001589	frameshift_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.4177dupG	16.37:g.4934480_4934480dupC	ENSP00000340510:p.Gln1393fs		4874480	NM_002705	O60314|O60454|Q14C98	Frame_Shift_Ins	INS	ENST00000345988.2	37	CCDS10526.1																																																																																				0.718	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
CIITA	4261	broad.mit.edu	37	16	11004091	11004091	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:11004091C>T	ENST00000324288.8	+	13	2996	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.R371W	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	955			Missing (in BLS2). {ECO:0000269|PubMed:8402893}.		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.R955W(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCTGCTGTTCGGGACCTAAA	0.557			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																p.R955W			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2863T	16						.						96.0	71.0	79.0					16																	11004091		2197	4300	6497	10911592	SO:0001583	missense	4261	exon13			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2863C>T	16.37:g.11004091C>T	ENSP00000316328:p.Arg955Trp		10911592	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554312	0.65425	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.74632	-0.86;1.55	4.95	1.14	0.20703	.	0.095778	0.41823	D	0.000802	T	0.82190	0.4983	M	0.66939	2.045	0.30561	N	0.764454	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.984;0.998;0.973	T	0.80089	-0.1528	10	0.87932	D	0	.	11.0522	0.47896	0.6335:0.3665:0.0:0.0	.	371;955;955	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	W	955;371	ENSP00000316328:R955W;ENSP00000371257:R371W	ENSP00000316328:R955W	R	+	1	2	CIITA	10911592	1.000000	0.71417	0.855000	0.33649	0.682000	0.39822	2.763000	0.47605	0.535000	0.28714	0.561000	0.74099	CGG		0.557	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
CLEC16A	23274	broad.mit.edu	37	16	11051751	11051751	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:11051751G>T	ENST00000409790.1	+	2	423	c.193G>T	c.(193-195)Gac>Tac	p.D65Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.D65Y	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.D65Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGATCAAAATGACAGCTCTGT	0.398																																					p.D65Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193T	16						.						132.0	129.0	130.0					16																	11051751		1882	4124	6006	10959252	SO:0001583	missense	23274	exon2			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.193G>T	16.37:g.11051751G>T	ENSP00000387122:p.Asp65Tyr		10959252	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952433	0.73787	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.54479	0.57	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80183	-0.1488	10	0.87932	D	0	-28.7859	16.7262	0.85422	0.0:0.0:1.0:0.0	.	65;65	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	Y	65	ENSP00000387122:D65Y	ENSP00000386495:D65Y	D	+	1	0	CLEC16A	10959252	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.695000	0.98691	2.244000	0.73946	0.650000	0.86243	GAC		0.398	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
CLEC16A	23274	broad.mit.edu	37	16	11063123	11063123	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:11063123C>T	ENST00000409790.1	+	4	679	c.449C>T	c.(448-450)tCg>tTg	p.S150L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S150L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.S150L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAAACACTTTCGTTAAAACTC	0.363																																					p.S150L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C449T	16						.						88.0	79.0	82.0					16																	11063123		1833	4075	5908	10970624	SO:0001583	missense	23274	exon4			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.449C>T	16.37:g.11063123C>T	ENSP00000387122:p.Ser150Leu		10970624	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010782	0.93346	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.69926	-0.44	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	D	0.89525	0.3781	10	0.87932	D	0	-10.6638	18.3811	0.90451	0.0:1.0:0.0:0.0	.	150;150	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	150	ENSP00000387122:S150L	ENSP00000386495:S150L	S	+	2	0	CLEC16A	10970624	1.000000	0.71417	0.270000	0.24601	0.872000	0.50106	7.714000	0.84703	2.583000	0.87209	0.655000	0.94253	TCG		0.363	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	C	T	rs148779363	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:14340860C>T	ENST00000341243.5	+	10	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	MKL2_ENST00000571589.1_Silent_p.I581I|MKL2_ENST00000574045.1_Silent_p.I581I|MKL2_ENST00000318282.5_Silent_p.I581I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	570	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I581I(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGCAAATCGAAGAGCTGA	0.507																																					p.I581I												.	.	3	Substitution - coding silent(3)	large_intestine(2)|lung(1)	c.C1743T	16						.	C		0,4394		0,0,2197	37.0	39.0	38.0		1743	-5.9	0.8	16	dbSNP_134	38	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MKL2	NM_014048.3		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		581/1050	14340860	3,12991	2197	4300	6497	14248361	SO:0001819	synonymous_variant	57496	exon12			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1710C>T	16.37:g.14340860C>T			14248361	NM_014048	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37																																																																																					0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048	
MYH11	4629	broad.mit.edu	37	16	15876242	15876242	+	Splice_Site	SNP	G	G	T	rs375302438		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:15876242G>T	ENST00000300036.5	-	6	835	c.726C>A	c.(724-726)ttC>ttA	p.F242L	MYH11_ENST00000396324.3_Splice_Site_p.F249L|MYH11_ENST00000452625.2_Splice_Site_p.F249L|MYH11_ENST00000576790.2_Splice_Site_p.F242L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	242	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.F242L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCTACTTACGAATCGTGAGG	0.502			T	CBFB	AML																																p.F249L			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C747A	16						.						157.0	142.0	147.0					16																	15876242		2197	4300	6497	15783743	SO:0001630	splice_region_variant	4629	exon7			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.726+1C>A	16.37:g.15876242G>T			15783743	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335039	0.81801	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.33	-5.86	0.02304	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	H	0.98333	4.205	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;1.0;1.0;1.0	D	0.91271	0.5044	9	.	.	.	.	15.0822	0.72122	0.8086:0.0:0.1914:0.0	.	249;242;249;242;249	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	L	242;242;249;249;249	ENSP00000300036:F242L;ENSP00000345136:F242L;ENSP00000379616:F249L;ENSP00000407821:F249L	.	F	-	3	2	MYH11	15783743	0.471000	0.25862	0.503000	0.27626	0.975000	0.68041	-0.118000	0.10692	-1.028000	0.03321	-0.258000	0.10820	TTC		0.502	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	Missense_Mutation
ABCC1	4363	broad.mit.edu	37	16	16205239	16205239	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:16205239T>G	ENST00000399410.3	+	22	3054	c.2879T>G	c.(2878-2880)cTt>cGt	p.L960R	ABCC1_ENST00000345148.5_Missense_Mutation_p.L960R|ABCC1_ENST00000349029.5_Missense_Mutation_p.L845R|ABCC1_ENST00000346370.5_Missense_Mutation_p.L904R|ABCC1_ENST00000351154.5_Missense_Mutation_p.L901R|ABCC1_ENST00000399408.2_Missense_Mutation_p.L970R	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	960					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L960R(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CAGGTCAAGCTTTCCGTGTAC	0.567																																					p.L901R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2702G	16						.						175.0	184.0	181.0					16																	16205239		2116	4229	6345	16112740	SO:0001583	missense	4363	exon21			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2879T>G	16.37:g.16205239T>G	ENSP00000382342:p.Leu960Arg		16112740	NM_019862	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090939	0.55968	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.33;-2.47;-2.66;-2.53	5.66	5.66	0.87406	ABC transporter, transmembrane domain, type 1 (1);	0.279620	0.35407	N	0.003234	D	0.93099	0.7803	L	0.61387	1.9	0.29986	N	0.817313	D;D;P;D;P;D	0.63880	0.993;0.993;0.951;0.967;0.919;0.977	P;D;P;P;P;P	0.65987	0.879;0.94;0.859;0.587;0.726;0.894	D	0.90435	0.4427	10	0.62326	D	0.03	-19.2947	9.4342	0.38628	0.0:0.0864:0.0:0.9136	.	845;960;904;901;960;970	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	R	960;970;904;901;960;845;644	ENSP00000382342:L960R;ENSP00000382340:L970R;ENSP00000263019:L904R;ENSP00000263017:L901R;ENSP00000263014:L960R;ENSP00000263016:L845R	ENSP00000263014:L960R	L	+	2	0	ABCC1	16112740	1.000000	0.71417	0.940000	0.37924	0.297000	0.27493	4.006000	0.57083	2.160000	0.67779	0.528000	0.53228	CTT		0.567	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
XYLT1	64131	broad.mit.edu	37	16	17228570	17228570	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:17228570A>C	ENST00000261381.6	-	9	1871	c.1787T>G	c.(1786-1788)tTt>tGt	p.F596C	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	596					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.F596C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGCGGGCAAAGAAGGTAGG	0.552																																					p.F596C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1787G	16						.						123.0	125.0	124.0					16																	17228570		2197	4300	6497	17136071	SO:0001583	missense	64131	exon9			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1787T>G	16.37:g.17228570A>C	ENSP00000261381:p.Phe596Cys		17136071	NM_022166	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381483	0.82792	.	.	ENSG00000103489	ENST00000261381	T	0.20332	2.08	5.03	5.03	0.67393	.	0.097805	0.64402	D	0.000001	T	0.48277	0.1491	M	0.89414	3.03	0.80722	D	1	D	0.71674	0.998	P	0.58873	0.847	T	0.59674	-0.7410	10	0.87932	D	0	-9.8293	14.2488	0.66007	1.0:0.0:0.0:0.0	.	596	Q86Y38	XYLT1_HUMAN	C	596	ENSP00000261381:F596C	ENSP00000261381:F596C	F	-	2	0	XYLT1	17136071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.249000	0.95470	2.012000	0.59069	0.459000	0.35465	TTT		0.552	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
COQ7	10229	broad.mit.edu	37	16	19087139	19087139	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:19087139C>T	ENST00000321998.5	+	4	530	c.464C>T	c.(463-465)aCg>aTg	p.T155M	COQ7_ENST00000544894.2_Missense_Mutation_p.T117M|COQ7_ENST00000569127.1_Missense_Mutation_p.T132M|COQ7_ENST00000568985.1_Missense_Mutation_p.T155M	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	155	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T155M(1)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CAGATCAGGACGCTGATGGAG	0.552																																					p.T117M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	16						.						125.0	112.0	117.0					16																	19087139		2197	4300	6497	18994640	SO:0001583	missense	10229	exon4			U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.464C>T	16.37:g.19087139C>T	ENSP00000322316:p.Thr155Met		18994640	NM_001190983	B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270863	0.23221	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.44083	0.93;0.93	5.69	-0.747	0.11091	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.335346	0.39274	N	0.001417	T	0.28034	0.0691	L	0.45285	1.41	0.32850	D	0.506549	B;B	0.18310	0.015;0.027	B;B	0.17098	0.017;0.017	T	0.06917	-1.0800	10	0.44086	T	0.13	-42.8686	4.6493	0.12587	0.1023:0.5708:0.0986:0.2284	.	132;155	Q49A71;Q99807	.;COQ7_HUMAN	M	155;117	ENSP00000322316:T155M;ENSP00000442923:T117M	ENSP00000322316:T155M	T	+	2	0	COQ7	18994640	0.827000	0.29292	0.303000	0.25071	0.570000	0.35934	0.829000	0.27449	-0.662000	0.05338	-2.225000	0.00294	ACG		0.552	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138	
TMC5	79838	broad.mit.edu	37	16	19455414	19455414	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:19455414G>T	ENST00000396229.2	+	4	1549	c.800G>T	c.(799-801)aGa>aTa	p.R267I	TMC5_ENST00000541464.1_Missense_Mutation_p.R267I|TMC5_ENST00000542583.2_Missense_Mutation_p.R267I|TMC5_ENST00000381414.4_Missense_Mutation_p.R267I	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	267					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R267I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTGCTCAGCAGAACATCTTCA	0.458																																					p.R267I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G800T	16						.						122.0	124.0	123.0					16																	19455414		2000	4168	6168	19362915	SO:0001583	missense	79838	exon4			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.800G>T	16.37:g.19455414G>T	ENSP00000379531:p.Arg267Ile		19362915	NM_001105248	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600431	0.46423	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	4.46	1.45	0.22620	.	14.329000	0.00550	U	0.000258	T	0.55657	0.1934	L	0.54323	1.7	0.32789	N	0.501448	P;P;B	0.47677	0.899;0.483;0.225	P;B;B	0.51355	0.667;0.122;0.048	T	0.46359	-0.9197	10	0.62326	D	0.03	-2.4297	6.3144	0.21182	0.3024:0.0:0.6976:0.0	.	267;267;267	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	I	267	ENSP00000441227:R267I;ENSP00000370822:R267I;ENSP00000379531:R267I;ENSP00000446274:R267I	ENSP00000370822:R267I	R	+	2	0	TMC5	19362915	0.942000	0.31987	0.446000	0.26920	0.431000	0.31685	1.020000	0.30027	0.383000	0.24910	0.655000	0.94253	AGA		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	
GPR139	124274	broad.mit.edu	37	16	20043519	20043519	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:20043519G>T	ENST00000570682.1	-	2	900	c.600C>A	c.(598-600)ttC>ttA	p.F200L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	200					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.F200L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGTTCAAGATGAAGAAGATGG	0.507																																					p.F200L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C600A	16						.						84.0	79.0	81.0					16																	20043519		2203	4300	6503	19951020	SO:0001583	missense	124274	exon2			AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.600C>A	16.37:g.20043519G>T	ENSP00000458791:p.Phe200Leu		19951020	NM_001002911	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	2.668	-0.278259	0.05679	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	N	0.08118	0	0.49051	D	0.999749	B	0.22080	0.064	B	0.24701	0.055	T	0.12192	-1.0557	9	0.05833	T	0.94	-57.4346	10.2845	0.43558	0.1494:0.0:0.8506:0.0	.	200	Q6DWJ6	GP139_HUMAN	L	200	.	ENSP00000370779:F200L	F	-	3	2	GPR139	19951020	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.652000	0.46682	1.444000	0.47605	-0.119000	0.15052	TTC		0.507	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911	
DNAH3	55567	broad.mit.edu	37	16	21011658	21011658	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:21011658G>A	ENST00000261383.3	-	43	6308	c.6309C>T	c.(6307-6309)ttC>ttT	p.F2103F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2103	AAA 3. {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.F2103F(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)		TTCTGGCAGAGAAATTGATGC	0.522																																					p.F2103F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6309T	16						.						177.0	140.0	152.0					16																	21011658		2201	4300	6501	20919159	SO:0001819	synonymous_variant	55567	exon43			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.6309C>T	16.37:g.21011658G>A			20919159	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21147736	21147736	+	Silent	SNP	C	C	T	rs368240270		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:21147736C>T	ENST00000261383.3	-	6	794	c.795G>A	c.(793-795)acG>acA	p.T265T	DNAH3_ENST00000415178.1_Silent_p.T265T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	265	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.T265T(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)		TCGTCAGCAGCGTGTTAGAAA	0.483																																					p.T265T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G795A	16						.	C		1,4401	2.1+/-5.4	0,1,2200	176.0	161.0	166.0		795	-9.4	0.0	16		166	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		265/4117	21147736	1,13001	2201	4300	6501	21055237	SO:0001819	synonymous_variant	55567	exon6			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.795G>A	16.37:g.21147736C>T			21055237	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	
METTL9	51108	broad.mit.edu	37	16	21624076	21624076	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:21624076G>A	ENST00000358154.3	+	2	534	c.276G>A	c.(274-276)tcG>tcA	p.S92S	METTL9_ENST00000396014.4_Silent_p.S92S	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	92								p.S92S(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		TTGAGAAATCGGGCTGGCTAT	0.373																																					p.S92S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G276A	16						.						212.0	188.0	197.0					16																	21624076		2199	4300	6499	21531577	SO:0001819	synonymous_variant	51108	exon2			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.276G>A	16.37:g.21624076G>A			21531577	NM_016025	Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Silent	SNP	ENST00000358154.3	37	CCDS10598.2																																																																																				0.373	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025	
VWA3A	146177	broad.mit.edu	37	16	22142527	22142527	+	Splice_Site	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:22142527T>C	ENST00000389398.5	+	18	1750	c.1654T>C	c.(1654-1656)Ttt>Ctt	p.F552L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	552	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)		p.F552L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTCTTAAAGGTTTGGAAGCAC	0.507																																					p.F552L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1654C	16						.						64.0	62.0	63.0					16																	22142527		1890	4112	6002	22050028	SO:0001630	splice_region_variant	146177	exon18			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.1653-1T>C	16.37:g.22142527T>C			22050028	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839085	0.91117	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.41400	1.0	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.68504	0.3008	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.75204	-0.3400	10	0.87932	D	0	.	13.8858	0.63708	0.0:0.0:0.0:1.0	.	552;176	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	L	552;175	ENSP00000374049:F552L	ENSP00000299840:F175L	F	+	1	0	VWA3A	22050028	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.018000	0.64054	1.955000	0.56771	0.456000	0.33151	TTT		0.507	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		Missense_Mutation
USP31	57478	broad.mit.edu	37	16	23113703	23113703	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:23113703C>T	ENST00000219689.7	-	6	1170	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.D391N(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)		AAAATGCAGTCGCTTTCATGG	0.413																																					p.D391N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1171A	16						.						90.0	83.0	86.0					16																	23113703		2197	4300	6497	23021204	SO:0001583	missense	57478	exon6			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.1171G>A	16.37:g.23113703C>T	ENSP00000219689:p.Asp391Asn		23021204	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	35	5.414134	0.96092	.	.	ENSG00000103404	ENST00000219689	T	0.12039	2.72	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.147682	0.48286	D	0.000191	T	0.41282	0.1152	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30534	-0.9975	10	0.66056	D	0.02	-18.0205	18.0889	0.89468	0.0:1.0:0.0:0.0	.	391	Q70CQ4	UBP31_HUMAN	N	391	ENSP00000219689:D391N	ENSP00000219689:D391N	D	-	1	0	USP31	23021204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.458000	0.80787	2.504000	0.84457	0.655000	0.94253	GAC		0.413	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
SCNN1B	6338	broad.mit.edu	37	16	23391449	23391449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:23391449G>T	ENST00000343070.2	+	12	1677	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	SCNN1B_ENST00000568923.1_Nonsense_Mutation_p.E474*|SCNN1B_ENST00000568085.1_Nonsense_Mutation_p.E465*|SCNN1B_ENST00000307331.5_Nonsense_Mutation_p.E546*	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	501					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.E501*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTACTTCCAAGAATTTAACTA	0.522																																					p.E501X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1501T	16						.						97.0	94.0	95.0					16																	23391449		2197	4300	6497	23298950	SO:0001587	stop_gained	6338	exon12			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1501G>T	16.37:g.23391449G>T	ENSP00000345751:p.Glu501*		23298950	NM_000336	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Nonsense_Mutation	SNP	ENST00000343070.2	37	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	37	6.389891	0.97529	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	5.18	5.18	0.71444	.	0.235594	0.36665	N	0.002474	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.5644	17.7056	0.88308	0.0:0.0:1.0:0.0	.	.	.	.	X	501;546	.	ENSP00000302874:E546X	E	+	1	0	SCNN1B	23298950	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.337000	0.65941	2.415000	0.81967	0.643000	0.83706	GAA		0.522	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		
COG7	91949	broad.mit.edu	37	16	23456399	23456399	+	Silent	SNP	G	G	A	rs143571247	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:23456399G>A	ENST00000307149.5	-	3	590	c.405C>T	c.(403-405)agC>agT	p.S135S	CTD-2270L9.2_ENST00000561624.2_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	135					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.S135S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAATATCGGCGCTCAACGTGC	0.433																																					p.S135S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C405T	16						.	G		4,4390	9.9+/-24.2	0,4,2193	191.0	172.0	179.0		405	-5.4	0.1	16	dbSNP_134	179	0,8600		0,0,4300	no	coding-synonymous	COG7	NM_153603.3		0,4,6493	AA,AG,GG		0.0,0.091,0.0308		135/771	23456399	4,12990	2197	4300	6497	23363900	SO:0001819	synonymous_variant	91949	exon3			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.405C>T	16.37:g.23456399G>A			23363900	NM_153603	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																				0.433	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1		
GGA2	23062	broad.mit.edu	37	16	23503028	23503028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:23503028G>A	ENST00000309859.4	-	5	527	c.445C>T	c.(445-447)Cga>Tga	p.R149*	GGA2_ENST00000567468.1_Nonsense_Mutation_p.R149*	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	149	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.R149*(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)		TAAGCGTCTCGAATCTTGATG	0.443																																					p.R149X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C445T	16						.						182.0	160.0	167.0					16																	23503028		2197	4300	6497	23410529	SO:0001587	stop_gained	23062	exon5			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.445C>T	16.37:g.23503028G>A	ENSP00000311962:p.Arg149*		23410529	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Nonsense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084554	0.55861	.	.	ENSG00000103365	ENST00000309859	.	.	.	5.48	4.49	0.54785	.	0.141960	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.57	11.491	0.50381	0.0:0.0:0.689:0.311	.	.	.	.	X	149	.	ENSP00000311962:R149X	R	-	1	2	GGA2	23410529	0.999000	0.42202	1.000000	0.80357	0.802000	0.45316	1.149000	0.31626	2.568000	0.86640	0.643000	0.83706	CGA		0.443	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
PLK1	5347	broad.mit.edu	37	16	23692347	23692347	+	Silent	SNP	C	C	T	rs11645497		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:23692347C>T	ENST00000300093.4	+	3	801	c.690C>T	c.(688-690)ttC>ttT	p.F230F	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	230	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.F230F(2)|p.F230L(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)		GGCACAGTTTCGAGGTGGATG	0.527																																					p.F230F	Colon(12;240 564 27038 33155)											.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	c.C690T	16						.						229.0	204.0	213.0					16																	23692347		2197	4300	6497	23599848	SO:0001819	synonymous_variant	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.690C>T	16.37:g.23692347C>T			23599848	NM_005030	Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	CCDS10616.1																																																																																				0.527	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
ERN2	10595	broad.mit.edu	37	16	23707271	23707271	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:23707271A>C	ENST00000457008.2	-	13	1436	c.1398T>G	c.(1396-1398)atT>atG	p.I466M	ERN2_ENST00000256797.4_Missense_Mutation_p.I566M					endoplasmic reticulum to nucleus signaling 2									p.I566M(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATTGAAGGAAATCTTCCCCA	0.637																																					p.I566M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1698G	16						.						50.0	47.0	48.0					16																	23707271		2197	4300	6497	23614772	SO:0001583	missense	10595	exon14			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1398T>G	16.37:g.23707271A>C	ENSP00000413812:p.Ile466Met		23614772	NM_033266		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	A	19.32	3.804861	0.70682	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.61040	0.14;0.18	5.95	-1.87	0.07737	.	0.052799	0.64402	D	0.000001	T	0.60894	0.2304	L	0.32530	0.975	0.48236	D	0.999614	D;D	0.63046	0.992;0.979	D;D	0.87578	0.998;0.975	T	0.58487	-0.7628	10	0.49607	T	0.09	.	12.3	0.54868	0.3324:0.0:0.6676:0.0	.	466;518	E7ETG2;A5YM65	.;.	M	566;466	ENSP00000256797:I566M;ENSP00000413812:I466M	ENSP00000256797:I566M	I	-	3	3	ERN2	23614772	0.891000	0.30450	0.992000	0.48379	0.868000	0.49771	0.014000	0.13333	-0.283000	0.09115	-0.250000	0.11733	ATT		0.637	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
ERN2	10595	broad.mit.edu	37	16	23718387	23718387	+	Missense_Mutation	SNP	G	G	A	rs141088910		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:23718387G>A	ENST00000457008.2	-	5	358	c.320C>T	c.(319-321)aCc>aTc	p.T107I	ERN2_ENST00000256797.4_Missense_Mutation_p.T155I					endoplasmic reticulum to nucleus signaling 2									p.T155I(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTCAGGGATGGTGAATGGCAG	0.542																																					p.T155I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	16						.	G	ILE/THR	1,4393	2.1+/-5.4	0,1,2196	89.0	81.0	84.0		464	4.4	1.0	16	dbSNP_134	84	0,8600		0,0,4300	no	missense	ERN2	NM_033266.3	89	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	155/975	23718387	1,12993	2197	4300	6497	23625888	SO:0001583	missense	10595	exon5			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.320C>T	16.37:g.23718387G>A	ENSP00000413812:p.Thr107Ile		23625888	NM_033266		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.086770	0.76642	2.28E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.19669	2.13;2.13	5.36	4.38	0.52667	.	0.046611	0.85682	D	0.000000	T	0.51193	0.1660	M	0.87456	2.885	0.58432	D	0.999993	D;D	0.89917	0.993;1.0	P;D	0.87578	0.881;0.998	T	0.60444	-0.7262	10	0.87932	D	0	.	13.7166	0.62700	0.0:0.1558:0.8442:0.0	.	107;107	E7ETG2;A5YM65	.;.	I	155;107	ENSP00000256797:T155I;ENSP00000413812:T107I	ENSP00000256797:T155I	T	-	2	0	ERN2	23625888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.661000	0.74422	1.216000	0.43427	0.557000	0.71058	ACC		0.542	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
PRKCB	5579	broad.mit.edu	37	16	24105602	24105602	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:24105602G>A	ENST00000321728.7	+	7	980	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.A269T	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	269					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.A269T(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ACTTCAGAAAGCCAGTGTTGA	0.428																																					p.A269T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G805A	16						.						152.0	139.0	143.0					16																	24105602		2197	4300	6497	24013103	SO:0001583	missense	5579	exon7			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.805G>A	16.37:g.24105602G>A	ENSP00000318315:p.Ala269Thr		24013103	NM_212535	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007839	0.35415	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.41758	0.99;0.99	5.52	5.52	0.82312	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.291863	0.33253	N	0.005105	T	0.39682	0.1087	M	0.62723	1.935	0.37766	D	0.926499	B;B	0.12630	0.006;0.003	B;B	0.13407	0.009;0.006	T	0.33059	-0.9883	10	0.14656	T	0.56	.	13.9934	0.64380	0.0:0.0:0.8391:0.1609	.	269;269	P05771-2;P05771	.;KPCB_HUMAN	T	269	ENSP00000318315:A269T;ENSP00000305355:A269T	ENSP00000305355:A269T	A	+	1	0	PRKCB	24013103	0.999000	0.42202	1.000000	0.80357	0.941000	0.58515	2.620000	0.46410	2.581000	0.87130	0.655000	0.94253	GCC		0.428	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
TBC1D24	57465	broad.mit.edu	37	16	2549914	2549914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:2549914G>T	ENST00000293970.5	+	6	1418	c.1285G>T	c.(1285-1287)Gaa>Taa	p.E429*	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000567020.1_Nonsense_Mutation_p.E423*|TBC1D24_ENST00000434757.2_Nonsense_Mutation_p.E429*	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	429	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)	p.E423*(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TGGGACCGGAGAATGCTTTGT	0.582																																					p.E429X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1285T	16						.						228.0	246.0	240.0					16																	2549914		2014	4170	6184	2489915	SO:0001587	stop_gained	57465	exon6			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1285G>T	16.37:g.2549914G>T	ENSP00000293970:p.Glu429*		2489915	NM_001199107	A0JNW3|B9A6M6|Q2KJ08	Nonsense_Mutation	SNP	ENST00000293970.5	37	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	39	7.717066	0.98450	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-33.9276	18.2983	0.90154	0.0:0.0:1.0:0.0	.	.	.	.	X	423;429	.	ENSP00000293970:E423X	E	+	1	0	TBC1D24	2489915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.034000	0.93747	2.660000	0.90430	0.555000	0.69702	GAA		0.582	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705	
PRKCB	5579	broad.mit.edu	37	16	24226095	24226095	+	Intron	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:24226095C>A	ENST00000321728.7	+	17	2038				PRKCB_ENST00000303531.7_Silent_p.S660S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.S660S(1)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAGGATTTTCCTTTGTTAACT	0.428																																					p.S660S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1980A	16						.						93.0	94.0	93.0					16																	24226095		2197	4300	6497	24133596	SO:0001627	intron_variant	5579	exon17			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1864-5187C>A	16.37:g.24226095C>A			24133596	NM_002738	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1																																																																																				0.428	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
PRSS21	10942	broad.mit.edu	37	16	2868786	2868786	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:2868786G>A	ENST00000005995.3	+	4	408	c.366G>A	c.(364-366)tcG>tcA	p.S122S	PRSS21_ENST00000450020.3_Silent_p.S122S|PRSS21_ENST00000455114.1_Silent_p.S120S			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	122	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S122S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ACTTCGTATCGAATATCTATC	0.532																																					p.S122S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G366A	16						.						186.0	150.0	162.0					16																	2868786		2198	4300	6498	2808787	SO:0001819	synonymous_variant	10942	exon4			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.366G>A	16.37:g.2868786G>A			2808787	NM_006799	Q9NS34|Q9P2V6	Silent	SNP	ENST00000005995.3	37	CCDS10478.1																																																																																				0.532	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799	
KIAA0556	23247	broad.mit.edu	37	16	27772846	27772846	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:27772846C>A	ENST00000261588.4	+	19	3763	c.3744C>A	c.(3742-3744)atC>atA	p.I1248I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1248						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I1248I(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						TGCACCAGATCTCTGCTTCCC	0.577																																					p.I1248I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3744A	16						.						67.0	66.0	66.0					16																	27772846		2197	4300	6497	27680347	SO:0001819	synonymous_variant	23247	exon19			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.3744C>A	16.37:g.27772846C>A			27680347	NM_015202	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.577	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
CLN3	1201	broad.mit.edu	37	16	28495334	28495334	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:28495334C>T	ENST00000569430.1	-	11	1602	c.783G>A	c.(781-783)tcG>tcA	p.S261S	CLN3_ENST00000357076.5_Intron|CLN3_ENST00000333496.9_Silent_p.S237S|CLN3_ENST00000360019.2_Silent_p.S261S|CLN3_ENST00000395653.4_Silent_p.S161S|CLN3_ENST00000357857.9_Silent_p.S207S|CLN3_ENST00000355477.5_Silent_p.S213S|CLN3_ENST00000567963.1_Silent_p.S261S|CLN3_ENST00000568224.1_Silent_p.S183S|CLN3_ENST00000357806.7_Silent_p.S162S|CLN3_ENST00000565316.1_Silent_p.S261S|CLN3_ENST00000535392.1_Silent_p.S183S|CLN3_ENST00000359984.7_Silent_p.S261S|CLN3_ENST00000354630.5_Silent_p.S261S			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	261					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)	p.S261S(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TACCTGGCTTCGACTCCGGGG	0.562																																					p.S261S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G783A	16						.						42.0	40.0	41.0					16																	28495334		2197	4300	6497	28402835	SO:0001819	synonymous_variant	1201	exon10			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.783G>A	16.37:g.28495334C>T			28402835	NM_001042432	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Silent	SNP	ENST00000569430.1	37	CCDS10632.1																																																																																				0.562	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2		
ATXN2L	11273	broad.mit.edu	37	16	28841994	28841994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:28841994C>T	ENST00000336783.4	+	9	1260	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	365					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.R365*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGAGGAGTTCGATGCAGCAG	0.612																																					p.R365X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1093T	16						.						43.0	43.0	43.0					16																	28841994		2197	4300	6497	28749495	SO:0001587	stop_gained	11273	exon9				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.1093C>T	16.37:g.28841994C>T	ENSP00000338718:p.Arg365*		28749495	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	6.843414	0.97881	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.4591	13.743	0.62860	0.154:0.8459:0.0:0.0	.	.	.	.	X	365	.	ENSP00000315650:R365X	R	+	1	2	ATXN2L	28749495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.657000	0.46724	2.750000	0.94351	0.563000	0.77884	CGA		0.612	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
ITGAX	3687	broad.mit.edu	37	16	31390960	31390960	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:31390960G>A	ENST00000268296.4	+	24	2982	c.2861G>A	c.(2860-2862)aGa>aAa	p.R954K	ITGAX_ENST00000562522.1_Missense_Mutation_p.R954K	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	954					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R954K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCATGCACAGATACCAGGCA	0.577																																					p.R954K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G2861A	16						.						37.0	29.0	32.0					16																	31390960		2190	4296	6486	31298461	SO:0001583	missense	3687	exon24			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2861G>A	16.37:g.31390960G>A	ENSP00000268296:p.Arg954Lys		31298461	NM_000887	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461542	0.26248	.	.	ENSG00000140678	ENST00000268296	T	0.42513	0.97	4.58	2.6	0.31112	Integrin alpha-2 (1);	.	.	.	.	T	0.42810	0.1219	L	0.29908	0.895	0.09310	N	1	D;B	0.62365	0.991;0.074	P;B	0.61874	0.895;0.046	T	0.16541	-1.0399	9	0.25751	T	0.34	.	6.3778	0.21517	0.2188:0.0:0.7812:0.0	.	954;139	P20702;Q8TES5	ITAX_HUMAN;.	K	954	ENSP00000268296:R954K	ENSP00000268296:R954K	R	+	2	0	ITGAX	31298461	0.902000	0.30710	0.029000	0.17559	0.237000	0.25408	1.009000	0.29886	1.274000	0.44362	0.313000	0.20887	AGA		0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
ITGAD	3681	broad.mit.edu	37	16	31425861	31425861	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:31425861A>G	ENST00000389202.2	+	17	2135	c.2086A>G	c.(2086-2088)Act>Gct	p.T696A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	696					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T696A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAAGAACCCCACTTTGACTCG	0.517																																					p.T696A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2086G	16						.						201.0	224.0	216.0					16																	31425861		2197	4300	6497	31333362	SO:0001583	missense	3681	exon17			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2086A>G	16.37:g.31425861A>G	ENSP00000373854:p.Thr696Ala		31333362	NM_005353	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	A	9.749	1.166948	0.21621	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.50813	0.73	4.7	4.7	0.59300	Integrin alpha-2 (1);	.	.	.	.	T	0.47655	0.1457	M	0.64997	1.995	0.31436	N	0.672561	B;B	0.28026	0.198;0.198	B;B	0.34931	0.192;0.192	T	0.53802	-0.8387	9	0.31617	T	0.26	.	10.5429	0.45043	1.0:0.0:0.0:0.0	.	712;696	Q59H14;Q13349	.;ITAD_HUMAN	A	712;696	ENSP00000373854:T696A	ENSP00000373854:T696A	T	+	1	0	ITGAD	31333362	0.171000	0.23029	0.689000	0.30133	0.060000	0.15804	2.557000	0.45871	1.763000	0.52060	0.416000	0.27883	ACT		0.517	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
SLC5A2	6524	broad.mit.edu	37	16	31497104	31497104	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:31497104G>A	ENST00000330498.3	+	4	377	c.358G>A	c.(358-360)Gcg>Acg	p.A120T	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	120					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.A120T(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GTACCTGACAGCGGGGGTCAT	0.632																																					p.A120T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358A	16						.						80.0	76.0	77.0					16																	31497104		2197	4300	6497	31404605	SO:0001583	missense	6524	exon4				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.358G>A	16.37:g.31497104G>A	ENSP00000327943:p.Ala120Thr		31404605	NM_003041	A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334313	0.60853	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.88277	-2.36;-2.36	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.92519	0.7624	L	0.53729	1.69	0.52501	D	0.999954	D	0.89917	1.0	D	0.91635	0.999	D	0.92573	0.6068	10	0.52906	T	0.07	.	14.9493	0.71060	0.0:0.0:1.0:0.0	.	120	P31639	SC5A2_HUMAN	T	120	ENSP00000327943:A120T;ENSP00000410601:A120T	ENSP00000327943:A120T	A	+	1	0	SLC5A2	31404605	0.998000	0.40836	0.964000	0.40570	0.184000	0.23303	4.882000	0.63121	2.407000	0.81776	0.313000	0.20887	GCG		0.632	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2		
ZNF200	7752	broad.mit.edu	37	16	3274189	3274189	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:3274189T>C	ENST00000431561.3	-	5	1503	c.891A>G	c.(889-891)aaA>aaG	p.K297K	ZNF200_ENST00000575948.1_Silent_p.K296K|ZNF200_ENST00000396870.4_Silent_p.K296K|ZNF200_ENST00000396868.3_Silent_p.K296K|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Silent_p.K297K|ZNF200_ENST00000396871.4_Silent_p.K296K	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	297					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)	p.K297K(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TTCGCTCATGTTTATTGAGGT	0.413																																					p.K297K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A891G	16						.						106.0	100.0	102.0					16																	3274189		2197	4300	6497	3214190	SO:0001819	synonymous_variant	7752	exon5			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.891A>G	16.37:g.3274189T>C			3214190	NM_003454	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Silent	SNP	ENST00000431561.3	37	CCDS10497.1																																																																																				0.413	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1		
ZNF200	7752	broad.mit.edu	37	16	3274538	3274538	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:3274538G>A	ENST00000431561.3	-	5	1154	c.542C>T	c.(541-543)tCt>tTt	p.S181F	ZNF200_ENST00000575948.1_Missense_Mutation_p.S180F|ZNF200_ENST00000396870.4_Missense_Mutation_p.S180F|ZNF200_ENST00000396868.3_Missense_Mutation_p.S180F|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.S181F|ZNF200_ENST00000396871.4_Missense_Mutation_p.S180F	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	181					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)	p.S181F(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ATCATCTGAAGACTTTTCTCT	0.393																																					p.S181F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C542T	16						.						106.0	104.0	105.0					16																	3274538		2197	4300	6497	3214539	SO:0001583	missense	7752	exon5			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.542C>T	16.37:g.3274538G>A	ENSP00000395723:p.Ser181Phe		3214539	NM_003454	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	G	1.117	-0.656485	0.03480	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T	0.07327	3.23;3.24;3.2;3.3	5.29	2.28	0.28536	.	0.635159	0.13352	N	0.394379	T	0.04318	0.0119	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.47005	-0.9150	10	0.08837	T	0.75	-12.3251	4.7027	0.12835	0.1782:0.0:0.6495:0.1723	.	180;181;180	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	F	181;180;180;180;181	ENSP00000380079:S181F;ENSP00000380077:S180F;ENSP00000380080:S180F;ENSP00000395723:S181F	ENSP00000380077:S180F	S	-	2	0	ZNF200	3214539	0.288000	0.24324	0.122000	0.21767	0.146000	0.21551	1.714000	0.37961	0.379000	0.24794	0.455000	0.32223	TCT		0.393	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1		
OR2C1	4993	broad.mit.edu	37	16	3406317	3406317	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:3406317T>C	ENST00000304936.2	+	1	429	c.377T>C	c.(376-378)gTg>gCg	p.V126A		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	126					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V126A(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TACGTGGCAGTGTGCCGGCCC	0.612																																					p.V126A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T377C	16						.						44.0	38.0	40.0					16																	3406317		2197	4300	6497	3346318	SO:0001583	missense	4993	exon1			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.377T>C	16.37:g.3406317T>C	ENSP00000307726:p.Val126Ala		3346318	NM_012368	A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	t	10.68	1.417385	0.25552	.	.	ENSG00000168158	ENST00000304936	T	0.49139	0.79	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.424150	0.17295	N	0.179498	T	0.61048	0.2316	M	0.87269	2.87	0.32849	D	0.506361	P	0.48089	0.905	P	0.48089	0.566	T	0.76534	-0.2924	10	0.87932	D	0	.	12.0482	0.53491	0.0:0.0:0.0:1.0	.	126	O95371	OR2C1_HUMAN	A	126	ENSP00000307726:V126A	ENSP00000307726:V126A	V	+	2	0	OR2C1	3346318	1.000000	0.71417	0.010000	0.14722	0.009000	0.06853	7.577000	0.82486	1.947000	0.56498	0.416000	0.27883	GTG		0.612	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3		
ZNF174	7727	broad.mit.edu	37	16	3458832	3458832	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:3458832G>A	ENST00000268655.4	+	3	1722	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	ZNF174_ENST00000571936.1_Silent_p.E379E	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	379					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.E379E(1)		endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						ACACTGGAGAGAAGCCATACC	0.557																																					p.E379E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1137A	16						.						48.0	55.0	52.0					16																	3458832		2197	4300	6497	3398833	SO:0001819	synonymous_variant	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.1137G>A	16.37:g.3458832G>A			3398833	NM_003450	Q53Y68|Q9BQ34	Silent	SNP	ENST00000268655.4	37	CCDS10504.1																																																																																				0.557	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450	
CREBBP	1387	broad.mit.edu	37	16	3828175	3828175	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:3828175A>C	ENST00000262367.5	-	10	2759	c.1950T>G	c.(1948-1950)taT>taG	p.Y650*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Y612*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	650	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y650*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATAAGTGATAATATTCATCCT	0.338			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.Y650X			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1950G	16						.						67.0	76.0	73.0					16																	3828175		2196	4299	6495	3768176	SO:0001587	stop_gained	1387	exon10			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1950T>G	16.37:g.3828175A>C	ENSP00000262367:p.Tyr650*		3768176	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	48	14.188489	0.99783	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.73	1.63	0.23807	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1696	9.2688	0.37659	0.4025:0.0:0.5975:0.0	.	.	.	.	X	650;680;612	.	ENSP00000262367:Y650X	Y	-	3	2	CREBBP	3768176	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.023000	0.30065	0.148000	0.19059	-0.379000	0.06801	TAT		0.338	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3841993	3841993	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:3841993C>T	ENST00000262367.5	-	5	2128	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	CREBBP_ENST00000382070.3_Intron	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	440					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R440Q(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGTTGGTTTCGCTTGTCACT	0.463			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.R440Q			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1319A	16						.						152.0	136.0	142.0					16																	3841993		2197	4300	6497	3781994	SO:0001583	missense	1387	exon5			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1319G>A	16.37:g.3841993C>T	ENSP00000262367:p.Arg440Gln		3781994	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756115	0.89843	.	.	ENSG00000005339	ENST00000262367	D	0.84442	-1.85	5.76	5.76	0.90799	.	.	.	.	.	D	0.89784	0.6815	M	0.72353	2.195	0.80722	D	1	D	0.63046	0.992	P	0.55508	0.777	D	0.86567	0.1845	9	0.21540	T	0.41	-4.8154	19.976	0.97309	0.0:1.0:0.0:0.0	.	440	Q92793	CBP_HUMAN	Q	440	ENSP00000262367:R440Q	ENSP00000262367:R440Q	R	-	2	0	CREBBP	3781994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.013000	0.70776	2.713000	0.92767	0.655000	0.94253	CGA		0.463	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3900435	3900435	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:3900435C>T	ENST00000262367.5	-	2	1470	c.661G>A	c.(661-663)Gga>Aga	p.G221R	CREBBP_ENST00000382070.3_Missense_Mutation_p.G221R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	221					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G221R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATTCCAGCTCCCCTTCCTCTG	0.572			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.G221R			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661A	16						.						94.0	87.0	89.0					16																	3900435		2197	4300	6497	3840436	SO:0001583	missense	1387	exon2			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.661G>A	16.37:g.3900435C>T	ENSP00000262367:p.Gly221Arg		3840436	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263336	0.59431	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83250	-1.7;-1.65	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.84977	0.5592	N	0.19112	0.55	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.975	T	0.80248	-0.1461	10	0.16420	T	0.52	-16.0713	20.5211	0.99222	0.0:1.0:0.0:0.0	.	289;221	Q4LE28;Q92793	.;CBP_HUMAN	R	221;289;221	ENSP00000262367:G221R;ENSP00000371502:G221R	ENSP00000262367:G221R	G	-	1	0	CREBBP	3840436	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	2.104000	0.41815	2.861000	0.98227	0.650000	0.86243	GGA		0.572	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ZNF267	10308	broad.mit.edu	37	16	31927105	31927105	+	Missense_Mutation	SNP	A	A	C	rs556332192		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:31927105A>C	ENST00000300870.10	+	4	1744	c.1535A>C	c.(1534-1536)aAa>aCa	p.K512T		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	512					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.K512T(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CAACATCGGAAAATTCATACT	0.353																																					p.K512T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1535C	16						.						40.0	44.0	42.0					16																	31927105		2197	4299	6496	31834606	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.1535A>C	16.37:g.31927105A>C	ENSP00000300870:p.Lys512Thr		31834606	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	14.16	2.451867	0.43531	.	.	ENSG00000185947	ENST00000300870	T	0.24908	1.83	0.225	0.225	0.15325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26702	0.0653	M	0.69358	2.11	0.80722	D	1	D	0.56521	0.976	P	0.47470	0.548	T	0.17167	-1.0378	9	0.72032	D	0.01	.	2.6097	0.04887	0.5591:0.0:0.4409:0.0	.	512	Q14586	ZN267_HUMAN	T	512	ENSP00000300870:K512T	ENSP00000300870:K512T	K	+	2	0	ZNF267	31834606	0.000000	0.05858	0.824000	0.32777	0.805000	0.45488	-0.195000	0.09546	0.257000	0.21650	0.254000	0.18369	AAA		0.353	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
C16orf87	388272	broad.mit.edu	37	16	46836877	46836877	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:46836877C>A	ENST00000285697.4	-	4	713	c.452G>T	c.(451-453)aGa>aTa	p.R151I	C16orf87_ENST00000394806.2_Missense_Mutation_p.R90I|C16orf87_ENST00000564250.1_5'Flank	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	151								p.R151I(2)		large_intestine(4)|urinary_tract(1)	5						GAGAATAAGTCTTTGATTGAT	0.368																																					p.R151I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G452T	16						.						81.0	80.0	81.0					16																	46836877		2203	4298	6501	45394378	SO:0001583	missense	388272	exon4				CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.452G>T	16.37:g.46836877C>A	ENSP00000285697:p.Arg151Ile		45394378	NM_001001436	Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248337	0.80024	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.8	5.8	0.92144	.	0.042064	0.85682	D	0.000000	T	0.49372	0.1553	N	0.19112	0.55	0.80722	D	1	D	0.59357	0.985	P	0.47827	0.558	T	0.54931	-0.8219	9	0.87932	D	0	.	20.051	0.97627	0.0:1.0:0.0:0.0	.	151	Q6PH81	CP087_HUMAN	I	151;90	.	ENSP00000285697:R151I	R	-	2	0	C16orf87	45394378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.506000	0.66993	2.740000	0.93945	0.650000	0.86243	AGA		0.368	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436	
NETO2	81831	broad.mit.edu	37	16	47117618	47117618	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:47117618A>C	ENST00000562435.1	-	9	1476	c.1092T>G	c.(1090-1092)atT>atG	p.I364M	NETO2_ENST00000303155.5_Missense_Mutation_p.I357M	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	364					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.I364M(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTAAAATAGAAATAATGAGAA	0.373										HNSCC(25;0.065)																											p.I364M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1092G	16						.						78.0	84.0	82.0					16																	47117618		2202	4300	6502	45675119	SO:0001583	missense	81831	exon9			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1092T>G	16.37:g.47117618A>C	ENSP00000455169:p.Ile364Met		45675119	NM_018092	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305506	0.60305	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.78	3.51	0.40186	.	0.049918	0.85682	D	0.000000	T	0.61800	0.2376	L	0.58101	1.795	0.58432	D	0.999995	P;P;D	0.53745	0.865;0.578;0.962	P;B;P	0.53062	0.646;0.3;0.717	T	0.61574	-0.7035	9	0.87932	D	0	.	8.5547	0.33474	0.8015:0.1313:0.0673:0.0	.	221;364;40	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	M	364	.	ENSP00000306726:I364M	I	-	3	3	NETO2	45675119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.085000	0.41634	0.443000	0.26582	0.533000	0.62120	ATT		0.373	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	
C16orf71	146562	broad.mit.edu	37	16	4786556	4786556	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:4786556C>A	ENST00000299320.5	+	2	519	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	ANKS3_ENST00000304283.4_5'Flank|ANKS3_ENST00000592711.1_5'Flank|ANKS3_ENST00000450067.2_5'Flank|C16orf71_ENST00000590191.1_Missense_Mutation_p.S14Y|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000585773.1_5'Flank	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	14								p.S14Y(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCGCTGGGCTCTCCCTGGGCC	0.602																																					p.S14Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C41A	16						.						62.0	64.0	63.0					16																	4786556		2197	4300	6497	4726557	SO:0001583	missense	146562	exon2			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.41C>A	16.37:g.4786556C>A	ENSP00000299320:p.Ser14Tyr		4726557	NM_139170	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504957	0.44558	.	.	ENSG00000166246	ENST00000299320	T	0.12984	2.63	3.95	1.88	0.25563	.	0.793825	0.10939	N	0.617494	T	0.25457	0.0619	L	0.40543	1.245	0.09310	N	1	D	0.71674	0.998	D	0.68943	0.961	T	0.13602	-1.0503	10	0.52906	T	0.07	-1.5258	10.1291	0.42667	0.3818:0.6182:0.0:0.0	.	14	Q8IYS4	CP071_HUMAN	Y	14	ENSP00000299320:S14Y	ENSP00000299320:S14Y	S	+	2	0	C16orf71	4726557	0.004000	0.15560	0.012000	0.15200	0.077000	0.17291	0.510000	0.22723	0.578000	0.29487	0.561000	0.74099	TCT		0.602	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170	
ITFG1	81533	broad.mit.edu	37	16	47485380	47485380	+	Splice_Site	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:47485380A>C	ENST00000320640.6	-	5	715	c.487T>G	c.(487-489)Ttc>Gtc	p.F163V	RNA5SP424_ENST00000390988.1_RNA|ITFG1_ENST00000544001.2_Splice_Site_p.F50V	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	163						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F163V(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TCACCATTGAAACTGAAAAAA	0.303																																					p.F163V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T487G	16						.						63.0	61.0	62.0					16																	47485380		2201	4292	6493	46042881	SO:0001630	splice_region_variant	81533	exon5			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.486-1T>G	16.37:g.47485380A>C			46042881	NM_030790	Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.490330	0.64074	.	.	ENSG00000129636	ENST00000320640;ENST00000544001	T;T	0.22945	1.93;1.97	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.52759	1.655	0.80722	D	1	B;B;B	0.33637	0.291;0.291;0.42	B;B;B	0.25506	0.061;0.061;0.061	T	0.03887	-1.0995	10	0.19147	T	0.46	-21.626	15.9632	0.79948	1.0:0.0:0.0:0.0	.	50;50;163	F5GXC5;B4DXC2;Q8TB96	.;.;TIP_HUMAN	V	163;50	ENSP00000319918:F163V;ENSP00000441062:F50V	ENSP00000319918:F163V	F	-	1	0	ITFG1	46042881	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.405000	0.80007	2.250000	0.74265	0.482000	0.46254	TTC		0.303	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790	Missense_Mutation
BRD7	29117	broad.mit.edu	37	16	50353864	50353864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:50353864G>A	ENST00000394688.3	-	16	1993	c.1834C>T	c.(1834-1836)Cga>Tga	p.R612*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.R613*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	612					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R612*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATTGCTTTTCGAACTCCATAC	0.418																																					p.R612X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1834T	16						.						104.0	91.0	96.0					16																	50353864		2198	4300	6498	48911365	SO:0001587	stop_gained	29117	exon16			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1834C>T	16.37:g.50353864G>A	ENSP00000378180:p.Arg612*		48911365	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	42	9.258548	0.99117	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9653	20.3241	0.98686	0.0:0.0:1.0:0.0	.	.	.	.	X	612;613	.	ENSP00000378180:R612X	R	-	1	2	BRD7	48911365	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.385000	0.59613	2.798000	0.96311	0.557000	0.71058	CGA		0.418	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	
SNX20	124460	broad.mit.edu	37	16	50707908	50707908	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:50707908G>A	ENST00000330943.4	-	4	531	c.360C>T	c.(358-360)ttC>ttT	p.F120F	RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	120	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.F120F(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGAGCTTCGCGAAGTCGGAAT	0.552																																					p.F120F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C360T	16						.						75.0	69.0	71.0					16																	50707908		2198	4300	6498	49265409	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.360C>T	16.37:g.50707908G>A			49265409	NM_182854	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	ENST00000330943.4	37	CCDS10745.1																																																																																				0.552	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337	
SALL1	6299	broad.mit.edu	37	16	51175799	51175799	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:51175799C>T	ENST00000251020.4	-	2	367	c.334G>A	c.(334-336)Gac>Aac	p.D112N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Missense_Mutation_p.D15N|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	112					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.D112N(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)			TCTGAAAGGTCGCTGCAGTCC	0.552																																					p.D112N	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	16						.						112.0	116.0	114.0					16																	51175799		2198	4300	6498	49733300	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.334G>A	16.37:g.51175799C>T	ENSP00000251020:p.Asp112Asn		49733300	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242012	0.39598	.	.	ENSG00000103449	ENST00000251020;ENST00000440970	T;T	0.08896	3.06;3.04	5.21	3.23	0.37069	.	0.129848	0.64402	N	0.000001	T	0.07143	0.0181	L	0.35414	1.06	0.50467	D	0.999874	B	0.06786	0.001	B	0.04013	0.001	T	0.25117	-1.0141	10	0.34782	T	0.22	.	10.8693	0.46875	0.0:0.7979:0.1306:0.0715	.	112	Q9NSC2	SALL1_HUMAN	N	112;15	ENSP00000251020:D112N;ENSP00000407914:D15N	ENSP00000251020:D112N	D	-	1	0	SALL1	49733300	1.000000	0.71417	0.913000	0.36048	0.959000	0.62525	3.286000	0.51724	0.560000	0.29169	0.555000	0.69702	GAC		0.552	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
CHD9	80205	broad.mit.edu	37	16	53308165	53308165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:53308165G>T	ENST00000398510.3	+	23	5005	c.4918G>T	c.(4918-4920)Gaa>Taa	p.E1640*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.E1640*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.E1640*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.E1640*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1640					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.E1640*(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)				TCTAAAGCAAGAAGTTATTGG	0.323																																					p.E1640X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4918T	16						.						127.0	110.0	116.0					16																	53308165		1826	4090	5916	51865666	SO:0001587	stop_gained	80205	exon24			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.4918G>T	16.37:g.53308165G>T	ENSP00000381522:p.Glu1640*		51865666	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	G	47	13.110387	0.99720	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6572	19.2099	0.93749	0.0:0.0:1.0:0.0	.	.	.	.	X	1640;1640;8	.	ENSP00000381522:E1640X	E	+	1	0	CHD9	51865666	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.366000	0.97143	2.644000	0.89710	0.563000	0.77884	GAA		0.323	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
RPGRIP1L	23322	broad.mit.edu	37	16	53653105	53653105	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:53653105G>A	ENST00000379925.3	-	24	3498	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R1070W|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1116W|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1104W	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1150					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.R1150W(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)				ATCTCAATCCGAATTTTTTCT	0.338																																					p.R1070W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3208T	16						.						89.0	90.0	90.0					16																	53653105		2198	4300	6498	52210606	SO:0001583	missense	23322	exon22				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.3448C>T	16.37:g.53653105G>A	ENSP00000369257:p.Arg1150Trp		52210606	NM_001127897	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766863	0.49574	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.79454	-1.04;-1.27	6.08	5.11	0.69529	.	0.130287	0.52532	D	0.000071	D	0.84946	0.5585	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.71414	0.973;0.973;0.973;0.821	D	0.86218	0.1629	10	0.87932	D	0	-4.1156	11.7456	0.51817	0.0647:0.0:0.8109:0.1244	.	1104;1104;1150;1070	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	W	1150;1070	ENSP00000369257:R1150W;ENSP00000262135:R1070W	ENSP00000262135:R1070W	R	-	1	2	RPGRIP1L	52210606	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	2.985000	0.49362	1.561000	0.49584	0.655000	0.94253	CGG		0.338	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
IRX3	79191	broad.mit.edu	37	16	54319132	54319132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:54319132C>T	ENST00000329734.3	-	2	1373	c.661G>A	c.(661-663)Gac>Aac	p.D221N		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	221	Asp/Glu-rich (acidic).				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D221N(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CGTTTGCCGtcctcctcgtcc	0.652																																					p.D221N	GBM(143;1830 1866 4487 4646 37383)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661A	16						.						67.0	44.0	52.0					16																	54319132		2197	4300	6497	52876633	SO:0001583	missense	79191	exon2			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.661G>A	16.37:g.54319132C>T	ENSP00000331608:p.Asp221Asn		52876633	NM_024336	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288592	0.23478	.	.	ENSG00000177508	ENST00000329734	T	0.56941	0.43	4.44	4.44	0.53790	.	0.154096	0.40640	N	0.001045	T	0.33118	0.0852	N	0.22421	0.69	0.29248	N	0.872175	P	0.34934	0.476	B	0.30251	0.113	T	0.28522	-1.0041	10	0.40728	T	0.16	-10.1707	8.2551	0.31751	0.0:0.8933:0.0:0.1067	.	221	P78415	IRX3_HUMAN	N	221	ENSP00000331608:D221N	ENSP00000331608:D221N	D	-	1	0	IRX3	52876633	1.000000	0.71417	0.092000	0.20876	0.001000	0.01503	5.642000	0.67888	2.295000	0.77249	0.563000	0.77884	GAC		0.652	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2		
MMP2	4313	broad.mit.edu	37	16	55516892	55516892	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:55516892G>T	ENST00000219070.4	+	2	734	c.225G>T	c.(223-225)aaG>aaT	p.K75N	MMP2_ENST00000570308.1_5'UTR|MMP2_ENST00000437642.2_Missense_Mutation_p.K25N|MMP2_ENST00000543485.1_5'UTR	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	75					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.K75N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ACACACTAAAGAAGATGCAGA	0.522																																					p.K75N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	16						.						109.0	102.0	105.0					16																	55516892		2198	4300	6498	54074393	SO:0001583	missense	4313	exon2				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.225G>T	16.37:g.55516892G>T	ENSP00000219070:p.Lys75Asn		54074393	NM_004530	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151178	0.78001	.	.	ENSG00000087245	ENST00000219070;ENST00000437642	T;T	0.41400	1.0;1.0	5.05	5.05	0.67936	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.70016	0.964;0.967	T	0.78974	-0.1992	10	0.56958	D	0.05	.	18.4152	0.90567	0.0:0.0:1.0:0.0	.	25;75	E9PE45;P08253	.;MMP2_HUMAN	N	75;25	ENSP00000219070:K75N;ENSP00000394237:K25N	ENSP00000219070:K75N	K	+	3	2	MMP2	54074393	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.786000	0.62425	2.354000	0.79902	0.460000	0.39030	AAG		0.522	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		
SLC6A2	6530	broad.mit.edu	37	16	55725862	55725862	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:55725862C>T	ENST00000379906.2	+	5	1071	c.816C>T	c.(814-816)ttC>ttT	p.F272F	SLC6A2_ENST00000414754.3_Silent_p.F272F|SLC6A2_ENST00000219833.8_Silent_p.F272F|SLC6A2_ENST00000568943.1_Silent_p.F272F|SLC6A2_ENST00000561820.1_Silent_p.F272F|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000567238.1_Silent_p.F167F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	272					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.F272F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCCTTACTTCGTGCTGTTCG	0.607																																					p.F272F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C816T	16						.						139.0	89.0	106.0					16																	55725862		2198	4300	6498	54283363	SO:0001819	synonymous_variant	6530	exon5				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.816C>T	16.37:g.55725862C>T			54283363	NM_001172504	B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.607	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
BBS2	583	broad.mit.edu	37	16	56518695	56518695	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:56518695C>T	ENST00000245157.5	-	17	2564	c.2144G>A	c.(2143-2145)cGa>cAa	p.R715Q	BBS2_ENST00000568104.1_Missense_Mutation_p.R669Q	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	715					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.R715Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGTCCCCACTCGCATGATTTT	0.423									Bardet-Biedl syndrome																												p.R715Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2144A	16						.						147.0	117.0	127.0					16																	56518695		2198	4300	6498	55076196	SO:0001583	missense	583	exon17	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.2144G>A	16.37:g.56518695C>T	ENSP00000245157:p.Arg715Gln		55076196	NM_031885	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859071	0.51376	.	.	ENSG00000125124	ENST00000245157	D	0.90788	-2.73	5.3	5.3	0.74995	.	0.100647	0.64402	D	0.000004	D	0.84406	0.5465	L	0.34521	1.04	0.54753	D	0.999987	P	0.34743	0.466	B	0.23018	0.043	T	0.82418	-0.0467	10	0.23302	T	0.38	-12.637	19.3223	0.94246	0.0:1.0:0.0:0.0	.	715	Q9BXC9	BBS2_HUMAN	Q	715	ENSP00000245157:R715Q	ENSP00000245157:R715Q	R	-	2	0	BBS2	55076196	0.998000	0.40836	0.996000	0.52242	0.970000	0.65996	4.205000	0.58466	2.629000	0.89072	0.591000	0.81541	CGA		0.423	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	
BBS2	583	broad.mit.edu	37	16	56539946	56539946	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:56539946C>T	ENST00000245157.5	-	7	1140	c.720G>A	c.(718-720)tcG>tcA	p.S240S	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Silent_p.S240S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	240					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.S240S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CATGATTTTTCGACTGAAAAA	0.343									Bardet-Biedl syndrome																												p.S240S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	16						.						76.0	76.0	76.0					16																	56539946		2198	4300	6498	55097447	SO:0001819	synonymous_variant	583	exon7	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.720G>A	16.37:g.56539946C>T			55097447	NM_031885	Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	CCDS32451.1																																																																																				0.343	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	
CETP	1071	broad.mit.edu	37	16	57003557	57003557	+	Missense_Mutation	SNP	G	G	A	rs138898516		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:57003557G>A	ENST00000566128.1	+	4	475	c.208G>A	c.(208-210)Gac>Aac	p.D70N	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000200676.3_Missense_Mutation_p.D135N|CETP_ENST00000379780.2_Missense_Mutation_p.D135N					cholesteryl ester transfer protein, plasma									p.D135N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTTCGAGATCGACTCTGCCAT	0.587																																					p.D135N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G403A	16						.	G	ASN/ASP	1,4395	2.1+/-5.4	0,1,2197	152.0	122.0	132.0		403	3.1	0.0	16	dbSNP_134	132	0,8600		0,0,4300	no	missense	CETP	NM_000078.2	23	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	135/494	57003557	1,12995	2198	4300	6498	55561058	SO:0001583	missense	1071	exon4			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.208G>A	16.37:g.57003557G>A	ENSP00000456276:p.Asp70Asn		55561058	NM_000078		Missense_Mutation	SNP	ENST00000566128.1	37		.	.	.	.	.	.	.	.	.	.	G	11.75	1.732909	0.30684	2.27E-4	0.0	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.04809	3.55;3.55	4.08	3.12	0.35913	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.296671	0.30949	U	0.008558	T	0.06508	0.0167	L	0.27053	0.805	0.09310	N	1	D;B	0.69078	0.997;0.391	P;B	0.55455	0.776;0.039	T	0.27297	-1.0078	10	0.38643	T	0.18	-9.1401	5.7687	0.18241	0.1112:0.1982:0.6906:0.0	.	135;135	P11597-2;P11597	.;CETP_HUMAN	N	135	ENSP00000200676:D135N;ENSP00000369106:D135N	ENSP00000200676:D135N	D	+	1	0	CETP	55561058	0.251000	0.23961	0.004000	0.12327	0.001000	0.01503	0.935000	0.28924	0.691000	0.31592	0.655000	0.94253	GAC		0.587	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078	
NLRC5	84166	broad.mit.edu	37	16	57110758	57110758	+	Silent	SNP	C	C	T	rs113401504	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:57110758C>T	ENST00000262510.6	+	40	5004	c.4779C>T	c.(4777-4779)gtC>gtT	p.V1593V	NLRC5_ENST00000539144.1_Silent_p.V1564V|NLRC5_ENST00000308149.7_Silent_p.V1564V|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1593					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.V1593V(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCGGTGATGTCGGTTGCTGCC	0.547																																					p.V1593V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4779T	16						.	C		1,4395	2.1+/-5.4	0,1,2197	84.0	75.0	78.0		4779	-8.5	0.0	16	dbSNP_132	78	0,8600		0,0,4300	no	coding-synonymous	NLRC5	NM_032206.3		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		1593/1867	57110758	1,12995	2198	4300	6498	55668259	SO:0001819	synonymous_variant	84166	exon40			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4779C>T	16.37:g.57110758C>T			55668259	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	CCDS10773.1																																																																																				0.547	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
CNGB1	1258	broad.mit.edu	37	16	57938672	57938672	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:57938672G>A	ENST00000251102.8	-	26	2660	c.2600C>T	c.(2599-2601)aCg>aTg	p.T867M	CNGB1_ENST00000564448.1_Missense_Mutation_p.T861M	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	867					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.T867M(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AAAGACGCCCGTGAAATAATT	0.562																																					p.T867M	Colon(156;1293 1853 16336 28962 38659)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2600T	16						.						104.0	111.0	109.0					16																	57938672		1853	4085	5938	56496173	SO:0001583	missense	1258	exon26			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2600C>T	16.37:g.57938672G>A	ENSP00000251102:p.Thr867Met		56496173	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965850	0.34659	.	.	ENSG00000070729	ENST00000251102	D	0.97505	-4.41	5.06	5.06	0.68205	.	0.288214	0.33732	N	0.004603	D	0.89522	0.6739	N	0.05230	-0.09	0.80722	D	1	B;B	0.31655	0.334;0.253	B;B	0.24848	0.024;0.056	D	0.87980	0.2742	10	0.14656	T	0.56	.	11.3068	0.49340	0.0834:0.0:0.9166:0.0	.	239;867	Q14028-2;Q14028	.;CNGB1_HUMAN	M	867	ENSP00000251102:T867M	ENSP00000251102:T867M	T	-	2	0	CNGB1	56496173	1.000000	0.71417	0.951000	0.38953	0.791000	0.44710	4.114000	0.57858	2.517000	0.84864	0.655000	0.94253	ACG		0.562	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
CNGB1	1258	broad.mit.edu	37	16	57954316	57954316	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:57954316G>T	ENST00000251102.8	-	19	1836	c.1776C>A	c.(1774-1776)acC>acA	p.T592T	CNGB1_ENST00000564448.1_Silent_p.T586T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	592					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.T592T(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTCATCAGAGGTGACGTCAG	0.572																																					p.T592T	Colon(156;1293 1853 16336 28962 38659)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1776A	16						.						82.0	84.0	83.0					16																	57954316		1952	4143	6095	56511817	SO:0001819	synonymous_variant	1258	exon19			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1776C>A	16.37:g.57954316G>T			56511817	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																				0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
CNOT1	23019	broad.mit.edu	37	16	58612691	58612691	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:58612691C>T	ENST00000317147.5	-	13	1828	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	CNOT1_ENST00000569240.1_Missense_Mutation_p.R499H|CNOT1_ENST00000441024.2_Missense_Mutation_p.R499H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	499					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.R499H(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)		AAGTTCATGGCGCAAGGTATG	0.438																																					p.R499H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1496A	16						.						235.0	210.0	218.0					16																	58612691		2198	4300	6498	57170192	SO:0001583	missense	23019	exon13			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.1496G>A	16.37:g.58612691C>T	ENSP00000320949:p.Arg499His		57170192	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520616	0.96416	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.19532	2.14;2.14	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.69248	2.105	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.989;0.997;0.999	T	0.25916	-1.0118	9	.	.	.	0.4983	19.7214	0.96144	0.0:1.0:0.0:0.0	.	499;499;499	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	499	ENSP00000320949:R499H;ENSP00000413113:R499H	.	R	-	2	0	CNOT1	57170192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.805000	0.86005	2.666000	0.90696	0.555000	0.69702	CGC		0.438	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CDH11	1009	broad.mit.edu	37	16	65038593	65038593	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:65038593G>T	ENST00000268603.4	-	3	795	c.180C>A	c.(178-180)ttC>ttA	p.F60L	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000394156.3_Missense_Mutation_p.F60L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	60	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.F60L(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)		CTATCACGAAGAACTGGTTCC	0.617			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.F60L			Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C180A	16						.						62.0	49.0	53.0					16																	65038593		2202	4300	6502	63596094	SO:0001583	missense	1009	exon3			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.180C>A	16.37:g.65038593G>T	ENSP00000268603:p.Phe60Leu		63596094	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970799	0.74246	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.00567	6.54;6.54	5.62	2.27	0.28462	Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.01092	0.0036	L	0.48260	1.515	0.80722	D	1	D;P	0.76494	0.999;0.941	D;B	0.67231	0.95;0.395	T	0.73566	-0.3942	10	0.54805	T	0.06	.	7.8501	0.29448	0.3837:0.0:0.6163:0.0	.	60;60	P55287-2;P55287	.;CAD11_HUMAN	L	60	ENSP00000268603:F60L;ENSP00000377711:F60L	ENSP00000268603:F60L	F	-	3	2	CDH11	63596094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.814000	0.55643	0.747000	0.32809	0.591000	0.81541	TTC		0.617	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
CBFB	865	broad.mit.edu	37	16	67116170	67116170	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:67116170G>A	ENST00000290858.6	+	5	715	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	CBFB_ENST00000412916.2_Missense_Mutation_p.E152K|CBFB_ENST00000561924.2_Missense_Mutation_p.E52K	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	
KIAA0895L	653319	broad.mit.edu	37	16	67213391	67213391	+	Silent	SNP	C	C	T	rs370277873		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:67213391C>T	ENST00000290881.7	-	5	1715	c.789G>A	c.(787-789)gcG>gcA	p.A263A	KIAA0895L_ENST00000561621.1_Silent_p.A263A|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Silent_p.A263A			Q68EN5	K895L_HUMAN	KIAA0895-like	263								p.A263A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TCAGGTTGATCGCCAATGTGG	0.607																																					p.A263A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G789A	16						.	C		0,4176		0,0,2088	57.0	62.0	61.0		789	2.5	1.0	16		61	1,8419		0,1,4209	no	coding-synonymous	KIAA0895L	NM_001040715.1		0,1,6297	TT,TC,CC		0.0119,0.0,0.0079		263/472	67213391	1,12595	2088	4210	6298	65770892	SO:0001819	synonymous_variant	653319	exon4			AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.789G>A	16.37:g.67213391C>T			65770892	NM_001040715	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	CCDS42177.1																																																																																				0.607	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715	
RLTPR	146206	broad.mit.edu	37	16	67688297	67688297	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:67688297G>A	ENST00000334583.6	+	31	3612	c.3284G>A	c.(3283-3285)cGa>cAa	p.R1095Q	RLTPR_ENST00000545661.1_Missense_Mutation_p.R1059Q	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1095					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.R1095Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGTACACTGCGAAAGAAGCTG	0.657																																					p.R1095Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3284A	16						.						21.0	23.0	22.0					16																	67688297		1975	4110	6085	66245798	SO:0001583	missense	146206	exon31			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3284G>A	16.37:g.67688297G>A	ENSP00000334958:p.Arg1095Gln		66245798	NM_001013838	B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800202	0.90538	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.20200	2.09;2.14	5.25	5.25	0.73442	.	0.000000	0.47093	D	0.000248	T	0.24736	0.0600	N	0.19112	0.55	0.31889	N	0.617489	D;D	0.76494	0.999;0.999	P;P	0.61275	0.886;0.886	T	0.12760	-1.0535	10	0.62326	D	0.03	-7.1694	8.1093	0.30905	0.1347:0.0:0.8653:0.0	.	1059;1095	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	Q	1095;192;1059	ENSP00000334958:R1095Q;ENSP00000441481:R1059Q	ENSP00000334958:R1095Q	R	+	2	0	RLTPR	66245798	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.204000	0.58460	2.744000	0.94065	0.563000	0.77884	CGA		0.657	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	
TANGO6	79613	broad.mit.edu	37	16	68894133	68894133	+	Silent	SNP	C	C	T	rs374959238		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:68894133C>T	ENST00000261778.1	+	2	453	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	147						integral component of membrane (GO:0016021)		p.F147F(1)									CTGTCCAGTTCGTTTTGCAGT	0.483																																					p.F147F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C441T	16						.	T		0,3934		0,0,1967	217.0	204.0	208.0		441	-10.5	0.0	16		208	1,8347		0,1,4173	no	coding-synonymous	TMCO7	NM_024562.1		0,1,6140	TT,TC,CC		0.012,0.0,0.0081		147/1095	68894133	1,12281	1967	4174	6141	67451634	SO:0001819	synonymous_variant	79613	exon2				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.441C>T	16.37:g.68894133C>T			67451634	NM_024562	Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	CCDS45516.1																																																																																				0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	
WWP2	11060	broad.mit.edu	37	16	69921977	69921977	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:69921977G>T	ENST00000359154.2	+	8	840	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	WWP2_ENST00000542271.1_Nonsense_Mutation_p.E131*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.E247*|WWP2_ENST00000569174.1_Nonsense_Mutation_p.E247*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.E247*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	247					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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 transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|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 potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.E247*(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGATCCCGAAGAACCTTCCGT	0.483																																					p.E247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G739T	16						.						148.0	126.0	133.0					16																	69921977		2198	4300	6498	68479478	SO:0001587	stop_gained	11060	exon9			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.739G>T	16.37:g.69921977G>T	ENSP00000352069:p.Glu247*		68479478	NM_199423	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Nonsense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288532	0.40494	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	6.07	6.07	0.98685	.	0.740552	0.13832	N	0.359678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7999	0.88584	0.0:0.0:1.0:0.0	.	.	.	.	X	247;247;247;134;131	.	.	E	+	1	0	WWP2	68479478	1.000000	0.71417	0.994000	0.49952	0.043000	0.13939	5.429000	0.66495	2.884000	0.98904	0.655000	0.94253	GAA		0.483	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
COG4	25839	broad.mit.edu	37	16	70542337	70542337	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:70542337T>C	ENST00000323786.5	-	8	1054	c.1033A>G	c.(1033-1035)Aat>Gat	p.N345D		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	341					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)		p.N345D(1)		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)				GTTGTAGAATTTCTCATCAGG	0.413																																					p.N345D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1033G	16						.						192.0	179.0	184.0					16																	70542337		2198	4300	6498	69099838	SO:0001583	missense	25839	exon8			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.1033A>G	16.37:g.70542337T>C	ENSP00000315775:p.Asn345Asp		69099838	NM_015386	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629803	0.46944	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.46451	0.87	5.8	5.8	0.92144	Conserved oligomeric Golgi complex, subunit 4 (2);	0.163396	0.64402	D	0.000002	T	0.32645	0.0836	L	0.34521	1.04	0.80722	D	1	B;B;B	0.22746	0.074;0.002;0.011	B;B;B	0.23852	0.049;0.03;0.049	T	0.11966	-1.0566	10	0.40728	T	0.16	-17.1492	10.4901	0.44746	0.0:0.072:0.0:0.928	.	251;340;341	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	D	345;341;3	ENSP00000315775:N345D	ENSP00000315775:N345D	N	-	1	0	COG4	69099838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.390000	0.52523	2.216000	0.71823	0.533000	0.62120	AAT		0.413	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3		
HYDIN	54768	broad.mit.edu	37	16	70884488	70884488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:70884488C>A	ENST00000393567.2	-	74	12664	c.12514G>T	c.(12514-12516)Gaa>Taa	p.E4172*	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4172					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.E4171*(1)|p.E4123*(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)				ACTTTCTTTTCCACATTGCAG	0.438																																					p.E4171X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G12511T	16						.						52.0	47.0	49.0					16																	70884488		1838	4094	5932	69441989	SO:0001587	stop_gained	54768	exon74			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.12514G>T	16.37:g.70884488C>A	ENSP00000377197:p.Glu4172*		69441989	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	54	22.496035	0.99948	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.56	3.24	0.37175	.	0.221597	0.20892	U	0.083816	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	5.9721	0.19359	0.0:0.1454:0.1376:0.717	.	.	.	.	X	4172;4171	.	ENSP00000313052:E4171X	E	-	1	0	HYDIN	69441989	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.929000	0.40114	0.389000	0.25086	-0.416000	0.06073	GAA		0.438	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	70894600	70894600	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:70894600C>T	ENST00000393567.2	-	70	12132	c.11982G>A	c.(11980-11982)aaG>aaA	p.K3994K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3994					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.K3945K(1)|p.K3993K(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)				ACCGGAGATTCTTCCCTCCTA	0.488																																					p.K3993K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G11979A	16						.						1.0	1.0	1.0					16																	70894600		336	769	1105	69452101	SO:0001819	synonymous_variant	54768	exon70			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.11982G>A	16.37:g.70894600C>T			69452101	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.488	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	70897082	70897082	+	Silent	SNP	G	G	A	rs367684762		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:70897082G>A	ENST00000393567.2	-	68	11625	c.11475C>T	c.(11473-11475)ttC>ttT	p.F3825F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3825					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.F3776F(1)|p.F3824F(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)				TAATCACATCGAACCTGCAAA	0.448																																					p.F3824F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C11472T	16						.	G		4,3706		0,4,1851	38.0	36.0	36.0		11472	-5.0	0.0	16		36	5,8151		0,5,4073	no	coding-synonymous	HYDIN	NM_032821.2		0,9,5924	AA,AG,GG		0.0613,0.1078,0.0758		3824/5121	70897082	9,11857	1855	4078	5933	69454583	SO:0001819	synonymous_variant	54768	exon68			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.11475C>T	16.37:g.70897082G>A			69454583	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	70908754	70908754	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:70908754G>A	ENST00000393567.2	-	63	10776	c.10626C>T	c.(10624-10626)atC>atT	p.I3542I	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3542					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.I3493I(1)|p.I3541I(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)				CTGTGATGTAGATATACGCGG	0.512																																					p.I3541I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C10623T	16						.						67.0	61.0	63.0					16																	70908754		1884	4115	5999	69466255	SO:0001819	synonymous_variant	54768	exon63			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.10626C>T	16.37:g.70908754G>A			69466255	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.512	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
ZNF23	7571	broad.mit.edu	37	16	71483711	71483711	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:71483711C>T	ENST00000393539.2	-	6	1030	c.217G>A	c.(217-219)Gac>Aac	p.D73N	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.D15N|ZNF23_ENST00000357254.4_Missense_Mutation_p.D73N|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.D15N|ZNF23_ENST00000417828.1_Missense_Mutation_p.D73N	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	73					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.D73N(1)|p.D73>?(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGGGAAAAGTCTCTTTGAAGT	0.348																																					p.D73N												.	.	2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|central_nervous_system(1)	c.G217A	16						.						82.0	84.0	84.0					16																	71483711		2198	4300	6498	70041212	SO:0001583	missense	7571	exon6			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.217G>A	16.37:g.71483711C>T	ENSP00000377171:p.Asp73Asn		70041212	NM_145911	Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	6.775	0.511873	0.12944	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.16	0.957	0.19613	.	0.653408	0.13528	N	0.381184	T	0.12689	0.0308	N	0.04746	-0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29366	-1.0014	10	0.23302	T	0.38	-4.3483	6.5873	0.22628	0.0:0.5669:0.0:0.4331	.	73;73	B3KR55;P17027	.;ZNF23_HUMAN	N	73;73;73;15;15	ENSP00000377171:D73N;ENSP00000349796:D73N;ENSP00000395712:D73N;ENSP00000387673:D15N	ENSP00000349796:D73N	D	-	1	0	ZNF23	70041212	0.000000	0.05858	0.010000	0.14722	0.298000	0.27526	-0.305000	0.08188	0.258000	0.21686	-0.136000	0.14681	GAC		0.348	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911	
ZNF23	7571	broad.mit.edu	37	16	71487250	71487250	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:71487250A>G	ENST00000393539.2	-	5	851	c.38T>C	c.(37-39)tTt>tCt	p.F13S	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_5'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.F13S|ZNF23_ENST00000497160.1_Missense_Mutation_p.F13S|ZNF23_ENST00000358700.2_Missense_Mutation_p.F13S|ZNF23_ENST00000539742.1_Intron|ZNF23_ENST00000428724.2_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.F13S	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	13	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.F13S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAGAAGTGGAAATCCTGGTTT	0.527																																					p.F13S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T38C	16						.						30.0	26.0	27.0					16																	71487250		2198	4300	6498	70044751	SO:0001583	missense	7571	exon5			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.38T>C	16.37:g.71487250A>G	ENSP00000377171:p.Phe13Ser		70044751	NM_145911	Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961666	0.53400	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828	T;T;T	0.26957	1.7;1.7;1.7	4.84	3.66	0.41972	Krueppel-associated box (2);	0.000000	0.41001	D	0.000962	T	0.23249	0.0562	M	0.62016	1.91	0.80722	D	1	P;P	0.37466	0.596;0.596	B;B	0.31751	0.135;0.135	T	0.09037	-1.0693	10	0.59425	D	0.04	-7.6393	9.7403	0.40413	0.8267:0.1733:0.0:0.0	.	13;13	B3KR55;P17027	.;ZNF23_HUMAN	S	13	ENSP00000377171:F13S;ENSP00000349796:F13S;ENSP00000395712:F13S	ENSP00000349796:F13S	F	-	2	0	ZNF23	70044751	0.038000	0.19896	1.000000	0.80357	0.977000	0.68977	1.882000	0.39648	2.126000	0.65437	0.533000	0.62120	TTT		0.527	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911	
TAT	6898	broad.mit.edu	37	16	71609879	71609879	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:71609879C>T	ENST00000355962.4	-	3	419	c.286G>A	c.(286-288)Gca>Aca	p.A96T	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	96					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.A96T(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)	TCTTTCATTGCCTGGGTAACT	0.488																																					p.A96T	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	16						.						132.0	131.0	131.0					16																	71609879		2198	4300	6498	70167380	SO:0001583	missense	6898	exon3				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.286G>A	16.37:g.71609879C>T	ENSP00000348234:p.Ala96Thr		70167380	NM_000353	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	36	5.709291	0.96821	.	.	ENSG00000198650	ENST00000355962	D	0.92495	-3.05	5.86	5.86	0.93980	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	D	0.97306	0.9934	10	0.45353	T	0.12	-15.6123	20.1754	0.98177	0.0:1.0:0.0:0.0	.	96;96	A1L4G7;P17735	.;ATTY_HUMAN	T	96	ENSP00000348234:A96T	ENSP00000348234:A96T	A	-	1	0	TAT	70167380	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.487000	0.81328	2.774000	0.95407	0.655000	0.94253	GCA		0.488	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
AP1G1	164	broad.mit.edu	37	16	71805085	71805085	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:71805085T>G	ENST00000299980.4	-	5	980	c.539A>C	c.(538-540)aAa>aCa	p.K180T	AP1G1_ENST00000569748.1_Missense_Mutation_p.K180T|AP1G1_ENST00000423132.2_Missense_Mutation_p.K180T|AP1G1_ENST00000393512.3_Missense_Mutation_p.K180T|AP1G1_ENST00000433195.2_Missense_Mutation_p.K203T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	180					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.K180T(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CAATAAATTTTTTGTTGCTGG	0.343																																					p.K180T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A539C	16						.						94.0	87.0	89.0					16																	71805085		2198	4300	6498	70362586	SO:0001583	missense	164	exon5			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.539A>C	16.37:g.71805085T>G	ENSP00000299980:p.Lys180Thr		70362586	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621601	0.46736	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.48	5.48	0.80851	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.129389	0.64402	D	0.000003	T	0.24586	0.0596	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.12630	0.006;0.0;0.0;0.001	B;B;B;B	0.17979	0.02;0.004;0.004;0.005	T	0.06427	-1.0827	10	0.14252	T	0.57	-14.3945	15.5822	0.76452	0.0:0.0:0.0:1.0	.	262;180;203;180	B4DS96;O43747;B3KXW5;O43747-2	.;AP1G1_HUMAN;.;.	T	180;180;180;203;51;262	ENSP00000299980:K180T;ENSP00000377148:K180T;ENSP00000409153:K180T;ENSP00000403259:K203T	ENSP00000299980:K180T	K	-	2	0	AP1G1	70362586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.080000	0.62538	0.533000	0.62120	AAA		0.343	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
HPR	3250	broad.mit.edu	37	16	72110830	72110830	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:72110830T>C	ENST00000540303.2	+	5	929	c.897T>C	c.(895-897)agT>agC	p.S299S	HPR_ENST00000228226.8_Silent_p.S336S|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Silent_p.S299S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	299	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.S299S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				ATGCGGGCAGTGCCTTTGCCG	0.557																																					p.S299S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T897C	16						.						235.0	161.0	186.0					16																	72110830		2108	4215	6323	70668331	SO:0001819	synonymous_variant	3250	exon5			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.897T>C	16.37:g.72110830T>C			70668331	NM_020995	Q7LE20|Q92658|Q92659|Q9ULB0	Silent	SNP	ENST00000540303.2	37	CCDS42193.1																																																																																				0.557	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995	
PMFBP1	83449	broad.mit.edu	37	16	72156815	72156815	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:72156815C>A	ENST00000537792.1	-	3	263	c.264G>T	c.(262-264)aaG>aaT	p.K88N	PMFBP1_ENST00000537465.1_Missense_Mutation_p.K927N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K777N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K922N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	927						cytoplasm (GO:0005737)		p.K922N(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)				TGACTTACTCCTTTTCGCCAC	0.517																																					p.K777N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2331T	16						.						80.0	77.0	78.0					16																	72156815		2198	4300	6498	70714316	SO:0001583	missense	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.264G>T	16.37:g.72156815C>A	ENSP00000443366:p.Lys88Asn		70714316	NM_001160213	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537792.1	37		.	.	.	.	.	.	.	.	.	.	C	16.38	3.106117	0.56291	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	T;T;T;T	0.58358	0.34;2.0;1.99;2.04	4.22	0.135	0.14775	.	0.000000	0.49916	D	0.000123	T	0.62841	0.2461	M	0.70595	2.14	0.28658	N	0.906319	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.994	T	0.54899	-0.8224	10	0.31617	T	0.26	-16.9355	6.3918	0.21591	0.0:0.5816:0.0:0.4184	.	927;922;927	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	N	88;927;922;777	ENSP00000443366:K88N;ENSP00000443817:K927N;ENSP00000237353:K922N;ENSP00000347854:K777N	ENSP00000237353:K922N	K	-	3	2	PMFBP1	70714316	0.995000	0.38212	0.999000	0.59377	0.732000	0.41865	-0.005000	0.12855	0.062000	0.16340	0.585000	0.79938	AAG		0.517	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293	
ZFHX3	463	broad.mit.edu	37	16	72829380	72829380	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:72829380T>G	ENST00000268489.5	-	9	7873	c.7201A>C	c.(7201-7203)Aca>Cca	p.T2401P	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1487P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2401					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.T2401P(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)				GAGGAAGCTGTATTATTGGCT	0.547																																					p.T2401P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7201C	16						.						88.0	84.0	86.0					16																	72829380		2198	4300	6498	71386881	SO:0001583	missense	463	exon9			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.7201A>C	16.37:g.72829380T>G	ENSP00000268489:p.Thr2401Pro		71386881	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	6.271	0.418090	0.11870	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.79	5.45	1.95	0.26073	.	0.173901	0.30686	N	0.009097	T	0.49949	0.1587	N	0.14661	0.345	0.29751	N	0.836309	B	0.23058	0.079	B	0.22601	0.04	T	0.33599	-0.9862	10	0.22109	T	0.4	.	4.6584	0.12630	0.0:0.1752:0.1847:0.6401	.	2401	Q15911	ZFHX3_HUMAN	P	2401;1487	ENSP00000268489:T2401P;ENSP00000438926:T1487P	ENSP00000268489:T2401P	T	-	1	0	ZFHX3	71386881	0.968000	0.33430	0.771000	0.31576	0.784000	0.44337	1.832000	0.39151	0.867000	0.35654	0.459000	0.35465	ACA		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
WDR59	79726	broad.mit.edu	37	16	74955897	74955897	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:74955897G>A	ENST00000262144.6	-	10	964	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	278								p.F278F(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATGCCCCACGAAGGTGTGGA	0.552																																					p.F278F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C834T	16						.						109.0	83.0	92.0					16																	74955897		2198	4300	6498	73513398	SO:0001819	synonymous_variant	79726	exon10			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.834C>T	16.37:g.74955897G>A			73513398	NM_030581	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.552	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	
CNTNAP4	85445	broad.mit.edu	37	16	76555105	76555105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:76555105G>T	ENST00000476707.1	+	15	2582	c.2443G>T	c.(2443-2445)Gaa>Taa	p.E815*	CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.E763*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.E811*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.E739*			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	812	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.E739*(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						CTTCCACGGAGAACTTAGCGC	0.363																																					p.E739X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2215T	16						.						234.0	220.0	224.0					16																	76555105		1819	4078	5897	75112606	SO:0001587	stop_gained	85445	exon15			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.2443G>T	16.37:g.76555105G>T	ENSP00000417628:p.Glu815*		75112606	NM_138994	E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.772723	0.98480	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	4.99	4.99	0.66335	.	0.000000	0.42294	D	0.000735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.4567	0.90722	0.0:0.0:1.0:0.0	.	.	.	.	X	811;763;739;815	.	ENSP00000306893:E811X	E	+	1	0	CNTNAP4	75112606	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	9.618000	0.98365	2.610000	0.88304	0.561000	0.74099	GAA		0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
CENPN	55839	broad.mit.edu	37	16	81051405	81051405	+	Missense_Mutation	SNP	C	C	T	rs528102999	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:81051405C>T	ENST00000305850.5	+	5	1110	c.320C>T	c.(319-321)tCg>tTg	p.S107L	CENPN_ENST00000428963.2_Missense_Mutation_p.S107L|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000569461.1_Intron|CENPN_ENST00000439957.3_Missense_Mutation_p.S87L|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000299572.5_Missense_Mutation_p.S107L|CENPN_ENST00000393335.3_Missense_Mutation_p.S107L	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	107					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.S107L(1)		breast(1)|large_intestine(5)|lung(4)	10						TTTAAAAATTCGTTCAAGAAA	0.279													c|||	2	0.000399361	0.0015	0.0	5008	,	,		17516	0.0		0.0	False		,,,				2504	0.0				p.S107L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C320T	16						.						24.0	27.0	26.0					16																	81051405		2169	4265	6434	79608906	SO:0001583	missense	55839	exon5			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.320C>T	16.37:g.81051405C>T	ENSP00000305608:p.Ser107Leu		79608906	NM_018455	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000305850.5	37	CCDS42200.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046004	0.36085	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.42	4.46	0.54185	.	0.381500	0.26369	N	0.024772	T	0.21801	0.0525	M	0.62723	1.935	0.09310	N	1	B;B;B;B;B	0.30511	0.039;0.039;0.039;0.039;0.282	B;B;B;B;B	0.17979	0.007;0.011;0.011;0.011;0.02	T	0.15723	-1.0427	10	0.62326	D	0.03	0.004	12.4821	0.55850	0.4524:0.5476:0.0:0.0	.	87;107;107;107;107	E7ETS3;E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;.;CENPN_HUMAN;.	L	107;107;87;107;107	ENSP00000305608:S107L;ENSP00000299572:S107L;ENSP00000395235:S87L;ENSP00000377007:S107L;ENSP00000393991:S107L	ENSP00000299572:S107L	S	+	2	0	CENPN	79608906	0.010000	0.17322	0.949000	0.38748	0.860000	0.49131	0.904000	0.28491	1.283000	0.44513	0.591000	0.81541	TCG		0.279	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455	
PKD1L2	114780	broad.mit.edu	37	16	81187916	81187916	+	RNA	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:81187916C>A	ENST00000525539.1	-	0	4152				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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)			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						GCAAAGGGATCATTGTCTTCC	0.542																																					p.D1385Y												.	.	0			c.G4153T	16						.						126.0	119.0	121.0					16																	81187916		2065	4221	6286	79745417			114780	exon25			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.81187916C>A			79745417	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37																																																																																					0.542	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
PKD1L2	114780	broad.mit.edu	37	16	81214839	81214839	+	RNA	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:81214839C>A	ENST00000527937.1	-	0	93				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_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.D679Y(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						AGCAGAATGTCTTTGCTGGCA	0.532																																					p.D679Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2035T	16						.						133.0	127.0	129.0					16																	81214839		2052	4210	6262	79772340			114780	exon12			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.81214839C>A			79772340	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.42|19.42	3.823965|3.823965	0.71143|0.71143	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000337114|ENST00000526632	T|.	0.70045|.	-0.45|.	4.9|4.9	3.94|3.94	0.45596|0.45596	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.640222|.	0.15780|.	N|.	0.244996|.	T|T	0.39682|0.39682	0.1087|0.1087	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;0.991|.	D;P|.	0.68943|.	0.961;0.873|.	T|T	0.22487|0.22487	-1.0215|-1.0215	9|4	0.87932|.	D|.	0|.	-13.4541|-13.4541	10.6677|10.6677	0.45741|0.45741	0.0:0.9087:0.0:0.0913|0.0:0.9087:0.0:0.0913	.|.	679;679|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	Y|I	679|206	ENSP00000337397:D679Y|.	ENSP00000337397:D679Y|.	D|R	-|-	1|2	0|0	PKD1L2|PKD1L2	79772340|79772340	0.066000|0.066000	0.20996|0.20996	0.004000|0.004000	0.12327|0.12327	0.599000|0.599000	0.36880|0.36880	1.669000|1.669000	0.37492|0.37492	1.190000|1.190000	0.43042|0.43042	0.563000|0.563000	0.77884|0.77884	GAC|AGA		0.532	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1		
CDH13	1012	broad.mit.edu	37	16	83520244	83520244	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:83520244C>T	ENST00000566620.1	+	7	1234	c.944C>T	c.(943-945)gCg>gTg	p.A315V	CDH13_ENST00000428848.3_Missense_Mutation_p.A276V|CDH13_ENST00000268613.10_Missense_Mutation_p.A362V|CDH13_ENST00000569454.1_3'UTR	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	315	Cadherin 2. {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.A315V(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGTCACCTGCGCTGCTGGAC	0.488																																					p.A315V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C944T	16						.						85.0	82.0	83.0					16																	83520244		2033	4207	6240	82077745	SO:0001583	missense	1012	exon7			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.944C>T	16.37:g.83520244C>T	ENSP00000454435:p.Ala315Val		82077745	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311949	0.40895	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.59502	0.26	5.64	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42017	0.1184	N	0.19112	0.55	0.41228	D	0.98655	B;B;B	0.28900	0.011;0.227;0.089	B;B;B	0.26310	0.003;0.068;0.005	T	0.40194	-0.9576	9	0.54805	T	0.06	.	11.6244	0.51136	0.0:0.8526:0.0:0.1474	.	276;362;315	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	V	362;315;276;17;5	ENSP00000268613:A362V	ENSP00000268613:A362V	A	+	2	0	CDH13	82077745	0.027000	0.19231	0.844000	0.33320	0.883000	0.51084	1.213000	0.32407	1.396000	0.46663	0.655000	0.94253	GCG		0.488	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
DNAAF1	123872	broad.mit.edu	37	16	84205903	84205903	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:84205903C>T	ENST00000378553.5	+	9	1690	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	522					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.F522F(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGGGTGTATTCGTTACAGAAC	0.448																																					p.F522F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1566T	16						.						97.0	86.0	90.0					16																	84205903		2200	4300	6500	82763404	SO:0001819	synonymous_variant	123872	exon9			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1566C>T	16.37:g.84205903C>T			82763404	NM_178452	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	CCDS10943.2																																																																																				0.448	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
ZDHHC7	55625	broad.mit.edu	37	16	85010004	85010004	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:85010004C>T	ENST00000313732.4	-	8	1224	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.R328Q|ZDHHC7_ENST00000569488.1_5'Flank	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	291					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R291Q(1)		large_intestine(6)|lung(4)	10						TCGCCTAAATCGGAAGCCCAC	0.577																																					p.R291Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G872A	16						.						58.0	69.0	65.0					16																	85010004		2199	4300	6499	83567505	SO:0001583	missense	55625	exon8			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.872G>A	16.37:g.85010004C>T	ENSP00000315604:p.Arg291Gln		83567505	NM_017740	D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894129	0.52121	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.58358	1.3;0.34	5.62	4.67	0.58626	.	0.054807	0.85682	D	0.000000	T	0.34395	0.0896	N	0.22421	0.69	0.43719	D	0.996191	B;B	0.12013	0.002;0.005	B;B	0.06405	0.002;0.001	T	0.12451	-1.0547	10	0.13108	T	0.6	-20.252	10.3865	0.44143	0.0:0.8501:0.0:0.1499	.	328;291	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	Q	291;328	ENSP00000315604:R291Q;ENSP00000341681:R328Q	ENSP00000315604:R291Q	R	-	2	0	ZDHHC7	83567505	0.475000	0.25894	0.882000	0.34594	0.696000	0.40369	1.107000	0.31110	1.517000	0.48917	-0.254000	0.11334	CGA		0.577	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740	
FAM92B	339145	broad.mit.edu	37	16	85141455	85141455	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:85141455C>A	ENST00000539556.1	-	4	578	c.423G>T	c.(421-423)atG>atT	p.M141I		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	141								p.M141I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGGATACGATCATTTGCTGAT	0.517																																					p.M141I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G423T	16						.						149.0	148.0	148.0					16																	85141455		2198	4300	6498	83698956	SO:0001583	missense	339145	exon4				CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.423G>T	16.37:g.85141455C>A	ENSP00000443411:p.Met141Ile		83698956	NM_198491		Missense_Mutation	SNP	ENST00000539556.1	37	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.478371	0.01035	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.58358	0.34	5.71	1.3	0.21679	.	0.424304	0.24930	N	0.034461	T	0.28699	0.0711	L	0.28014	0.82	0.18873	N	0.999986	B	0.14012	0.009	B	0.17098	0.017	T	0.09885	-1.0654	10	0.09338	T	0.73	-21.7995	3.0938	0.06302	0.1266:0.4494:0.269:0.1549	.	141	Q6ZTR7	FA92B_HUMAN	I	141	ENSP00000443411:M141I	ENSP00000376937:M141I	M	-	3	0	FAM92B	83698956	0.084000	0.21492	0.125000	0.21846	0.052000	0.14988	0.345000	0.19979	0.746000	0.32786	0.498000	0.49722	ATG		0.517	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491	
ABAT	18	broad.mit.edu	37	16	8862715	8862715	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:8862715A>G	ENST00000396600.2	+	11	1639	c.701A>G	c.(700-702)cAc>cGc	p.H234R	ABAT_ENST00000567812.1_Missense_Mutation_p.H249R|ABAT_ENST00000268251.8_Missense_Mutation_p.H234R|ABAT_ENST00000569156.1_Missense_Mutation_p.H234R|ABAT_ENST00000425191.2_Missense_Mutation_p.H234R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	234					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.H234R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AAAGCCATTCACAAGATCGAC	0.517																																					p.H234R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A701G	16						.						241.0	234.0	236.0					16																	8862715		2197	4300	6497	8770216	SO:0001583	missense	18	exon11			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.701A>G	16.37:g.8862715A>G	ENSP00000379845:p.His234Arg		8770216	NM_000663	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.911064	0.92178	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.75704	-0.96;-0.96;-0.96	5.79	5.79	0.91817	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.71581	2.175	0.80722	D	1	D	0.58620	0.983	D	0.67231	0.95	D	0.86482	0.1792	10	0.87932	D	0	-17.2333	15.3674	0.74535	1.0:0.0:0.0:0.0	.	234	P80404	GABT_HUMAN	R	234	ENSP00000268251:H234R;ENSP00000379845:H234R;ENSP00000411916:H234R	ENSP00000268251:H234R	H	+	2	0	ABAT	8770216	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.189000	0.94928	2.227000	0.72691	0.454000	0.30748	CAC		0.517	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	
ZC3H18	124245	broad.mit.edu	37	16	88666313	88666313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:88666313C>T	ENST00000301011.5	+	6	1245	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R373*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	349						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R349*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAAGTTTTTCGAGATTGGAA	0.488																																					p.R349X	Ovarian(121;375 2276 20373 38669)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1045T	16						.						114.0	128.0	123.0					16																	88666313		2198	4300	6498	87193814	SO:0001587	stop_gained	124245	exon6			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1045C>T	16.37:g.88666313C>T	ENSP00000301011:p.Arg349*		87193814	NM_144604	Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	39	7.301061	0.98196	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	.	.	.	5.16	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5262	14.7222	0.69314	0.1543:0.8457:0.0:0.0	.	.	.	.	X	349;373;373;232	.	ENSP00000289509:R373X	R	+	1	2	ZC3H18	87193814	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.781000	0.38644	2.390000	0.81377	0.561000	0.74099	CGA		0.488	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
ZNF778	197320	broad.mit.edu	37	16	89293416	89293416	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:89293416T>C	ENST00000433976.2	+	6	968	c.636T>C	c.(634-636)ctT>ctC	p.L212L	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.L170L	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	212					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.L212L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGTCATACCTTCAGGCACGTG	0.507																																					p.L212L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T636C	16						.						150.0	148.0	148.0					16																	89293416		2032	4185	6217	87820917	SO:0001819	synonymous_variant	197320	exon6			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.636T>C	16.37:g.89293416T>C			87820917	NM_182531	Q08AG0	Silent	SNP	ENST00000433976.2	37	CCDS45550.1																																																																																				0.507	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531	
ANKRD11	29123	broad.mit.edu	37	16	89350432	89350432	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:89350432G>A	ENST00000301030.4	-	9	2978	c.2518C>T	c.(2518-2520)Cgg>Tgg	p.R840W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R840W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	840	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R840W(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAAAACCACCGATCTCGCTGA	0.443																																					p.R840W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2518T	16						.						65.0	65.0	65.0					16																	89350432		2198	4300	6498	87877933	SO:0001583	missense	29123	exon9			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2518C>T	16.37:g.89350432G>A	ENSP00000301030:p.Arg840Trp		87877933	NM_013275	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085475	0.36758	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.53206	0.63;0.63	5.51	-6.53	0.01866	.	0.000000	0.64402	D	0.000003	T	0.65112	0.2660	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.71437	-0.4593	10	0.72032	D	0.01	.	24.2678	0.99989	0.0:0.0:0.8325:0.1675	.	459;840	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	W	840;840;459	ENSP00000301030:R840W;ENSP00000367581:R840W	ENSP00000301030:R840W	R	-	1	2	ANKRD11	87877933	0.002000	0.14202	0.005000	0.12908	0.459000	0.32528	-0.128000	0.10531	-0.957000	0.03627	-0.397000	0.06425	CGG		0.443	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
SPG7	6687	broad.mit.edu	37	16	89579362	89579362	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:89579362C>T	ENST00000268704.2	+	3	308	c.293C>T	c.(292-294)aCt>aTt	p.T98I	SPG7_ENST00000341316.2_Missense_Mutation_p.T98I	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	98					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.T98I(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ATAGGTGGTACTTTCTATTTT	0.403																																					p.T98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C293T	16						.						125.0	125.0	125.0					16																	89579362		2198	4300	6498	88106863	SO:0001583	missense	6687	exon3			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.293C>T	16.37:g.89579362C>T	ENSP00000268704:p.Thr98Ile		88106863	NM_003119	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	5.010	0.187535	0.09547	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.93547	-3.05;-3.24	4.69	2.69	0.31865	Peptidase M41, FtsH (1);	0.418744	0.26727	N	0.022808	D	0.83723	0.5316	N	0.12746	0.255	0.30765	N	0.743635	B;B	0.09022	0.0;0.002	B;B	0.14023	0.001;0.01	T	0.77264	-0.2652	10	0.33141	T	0.24	0.1419	7.6192	0.28175	0.0:0.7896:0.0:0.2104	.	98;98	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	I	98	ENSP00000268704:T98I;ENSP00000341157:T98I	ENSP00000268704:T98I	T	+	2	0	SPG7	88106863	0.111000	0.22076	0.396000	0.26296	0.026000	0.11368	0.709000	0.25734	1.098000	0.41479	0.655000	0.94253	ACT		0.403	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119	
USP7	7874	broad.mit.edu	37	16	8997212	8997212	+	Silent	SNP	G	G	A	rs374321309		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:8997212G>A	ENST00000344836.4	-	16	1950	c.1752C>T	c.(1750-1752)taC>taT	p.Y584Y	USP7_ENST00000381886.4_Silent_p.Y568Y|USP7_ENST00000535863.1_Silent_p.Y485Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	584					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.Y584Y(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						TTTCTTCATCGTACATGTCAT	0.428																																					p.Y584Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1752T	16						.	A		0,4394		0,0,2197	144.0	120.0	128.0		1752	-5.5	0.9	16		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP7	NM_003470.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		584/1103	8997212	1,12993	2197	4300	6497	8904713	SO:0001819	synonymous_variant	7874	exon16			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.1752C>T	16.37:g.8997212G>A			8904713	NM_003470	A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	CCDS32385.1																																																																																				0.428	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
USP7	7874	broad.mit.edu	37	16	8998399	8998399	+	Missense_Mutation	SNP	C	C	T	rs374207468		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:8998399C>T	ENST00000344836.4	-	15	1795	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	USP7_ENST00000381886.4_Missense_Mutation_p.D517N|USP7_ENST00000535863.1_Missense_Mutation_p.D434N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	533					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.D533N(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						ATATCATGGTCGGTGACCGCC	0.512																																					p.D533N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1597A	16						.	C	ASN/ASP	0,4394		0,0,2197	100.0	86.0	91.0		1597	5.2	1.0	16		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP7	NM_003470.2	23	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	533/1103	8998399	1,12993	2197	4300	6497	8905900	SO:0001583	missense	7874	exon15			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.1597G>A	16.37:g.8998399C>T	ENSP00000343535:p.Asp533Asn		8905900	NM_003470	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265814	0.80358	0.0	1.16E-4	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.05513	3.43;3.43	5.2	5.2	0.72013	Peptidase C19  domain (1);	0.000000	0.85682	D	0.000000	T	0.06096	0.0158	N	0.26042	0.785	0.80722	D	1	B;B	0.33266	0.141;0.404	B;B	0.26770	0.06;0.073	T	0.45396	-0.9264	10	0.33940	T	0.23	.	18.7259	0.91713	0.0:1.0:0.0:0.0	.	533;517	Q93009;B7Z815	UBP7_HUMAN;.	N	533;541;434;434	ENSP00000343535:D533N;ENSP00000443646:D434N	ENSP00000343535:D533N	D	-	1	0	USP7	8905900	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.726000	0.84824	2.423000	0.82170	0.455000	0.32223	GAC		0.512	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
GRIN2A	2903	broad.mit.edu	37	16	10032142	10032142	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:10032142G>T	ENST00000396573.2	-	4	990	c.681C>A	c.(679-681)atC>atA	p.I227I	GRIN2A_ENST00000404927.2_Silent_p.I227I|GRIN2A_ENST00000562109.1_Silent_p.I227I|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000330684.3_Silent_p.I227I|GRIN2A_ENST00000396575.2_Silent_p.I227I|GRIN2A_ENST00000535259.1_Silent_p.I70I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	227					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.I227I(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)	AGTAGAGCAAGATGACAGAAG	0.512																																					p.I227I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681A	16						.						104.0	94.0	97.0					16																	10032142		2197	4300	6497	9939643	SO:0001819	synonymous_variant	2903	exon3				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.681C>A	16.37:g.10032142G>T			9939643	NM_001134408	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																				0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
DOK4	55715	broad.mit.edu	37	16	57507649	57507649	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:57507649C>T	ENST00000340099.4	-	8	1110		c.e8-1		DOK4_ENST00000566936.1_Splice_Site|DOK4_ENST00000569548.1_Splice_Site|DOK4_ENST00000561918.1_5'Flank	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4						MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.?(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						TGTTCAGCAGCTGTGGGGCAA	0.582																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						155.0	137.0	143.0					16																	57507649		2198	4300	6498	56065150	SO:0001630	splice_region_variant	55715	.			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.739-1G>A	16.37:g.57507649C>T			56065150	.	O75209|Q9BTP2|Q9NVV3	Splice_Site	SNP	ENST00000340099.4	37	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667362	0.67814	.	.	ENSG00000125170	ENST00000340099	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.044	0.80704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOK4	56065150	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.948000	0.75965	2.531000	0.85337	0.655000	0.94253	.		0.582	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3		Intron
SPIRE2	84501	broad.mit.edu	37	16	89925748	89925748	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr16:89925748G>A	ENST00000378247.3	+	9	1491	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	SPIRE2_ENST00000393062.2_Missense_Mutation_p.G483D	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	483					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.G483D(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGGAGGCCCGGCTCCCGAGAC	0.697																																					p.G483D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1448A	16						.						20.0	23.0	22.0					16																	89925748		2196	4294	6490	88453249	SO:0001583	missense	84501	exon9			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1448G>A	16.37:g.89925748G>A	ENSP00000367494:p.Gly483Asp		88453249	NM_032451	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	5.747	0.322173	0.10900	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.41758	0.99;1.0	5.19	-1.37	0.09056	.	1.261650	0.04654	N	0.407574	T	0.17704	0.0425	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.0;0.003;0.001;0.001	T	0.14504	-1.0470	10	0.19147	T	0.46	-5.9458	4.1184	0.10094	0.3308:0.3327:0.3366:0.0	.	350;483;435;483	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	D	483	ENSP00000367494:G483D;ENSP00000376782:G483D	ENSP00000367494:G483D	G	+	2	0	SPIRE2	88453249	0.014000	0.17966	0.000000	0.03702	0.001000	0.01503	1.902000	0.39848	-0.012000	0.14223	0.555000	0.69702	GGC		0.697	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)ccafs	p.P540fs	SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						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.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609																																					p.P540fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.1620_1621insC	17						.																																			7436847	SO:0001589	frameshift_variant	9513	exon14			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.1620dupC	17.37:g.7496129_7496129dupG	ENSP00000250113:p.Pro540fs		7436846	NM_004860	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Ins	INS	ENST00000250113.7	37	CCDS45604.1																																																																																				0.609	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		
MYH13	8735	broad.mit.edu	37	17	10214472	10214472	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10214472T>G	ENST00000418404.3	-	32	4767	c.4604A>C	c.(4603-4605)aAg>aCg	p.K1535T	MYH13_ENST00000252172.4_Missense_Mutation_p.K1535T|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1535					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.K1535T(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						CTCCACTAGCTTCTTGGTCTT	0.458																																					p.K1535T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4604C	17						.						139.0	129.0	132.0					17																	10214472		1907	4125	6032	10155197	SO:0001583	missense	8735	exon33			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.4604A>C	17.37:g.10214472T>G	ENSP00000404570:p.Lys1535Thr		10155197	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998777	0.74818	.	.	ENSG00000006788	ENST00000252172	D	0.85629	-2.01	3.98	3.98	0.46160	Myosin tail (1);	.	.	.	.	D	0.93900	0.8048	H	0.94423	3.535	0.42098	D	0.991329	D	0.62365	0.991	D	0.78314	0.991	D	0.95297	0.8400	9	0.66056	D	0.02	.	13.3453	0.60569	0.0:0.0:0.0:1.0	.	1535	Q9UKX3	MYH13_HUMAN	T	1535	ENSP00000252172:K1535T	ENSP00000252172:K1535T	K	-	2	0	MYH13	10155197	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.622000	0.83099	1.801000	0.52704	0.379000	0.24179	AAG		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	10216011	10216011	+	Silent	SNP	G	G	A	rs368930513		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10216011G>A	ENST00000418404.3	-	30	4408	c.4245C>T	c.(4243-4245)tgC>tgT	p.C1415C	MYH13_ENST00000252172.4_Silent_p.C1415C|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1415					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.C1415C(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						CCAACGATGCGCACTTGGAGT	0.552																																					p.C1415C												.	.	4	Substitution - coding silent(4)	large_intestine(2)|endometrium(2)	c.C4245T	17						.						50.0	54.0	53.0					17																	10216011		2195	4298	6493	10156736	SO:0001819	synonymous_variant	8735	exon31			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.4245C>T	17.37:g.10216011G>A			10156736	NM_003802	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.552	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	10222461	10222461	+	Silent	SNP	C	C	T	rs373348807		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10222461C>T	ENST00000418404.3	-	26	3547	c.3384G>A	c.(3382-3384)gcG>gcA	p.A1128A	MYH13_ENST00000252172.4_Silent_p.A1128A|RP11-401O9.3_ENST00000577743.1_RNA|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1128					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.A1128A(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						GCGTGTGTTCCGCTTCAATTT	0.557																																					p.A1128A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3384A	17						.	C		0,4396		0,0,2198	42.0	45.0	44.0		3384	-3.5	0.8	17		44	1,8589		0,1,4294	no	coding-synonymous	MYH13	NM_003802.2		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		1128/1939	10222461	1,12985	2198	4295	6493	10163186	SO:0001819	synonymous_variant	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.3384G>A	17.37:g.10222461C>T			10163186	NM_003802	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.557	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	10223711	10223711	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10223711C>T	ENST00000418404.3	-	24	3377	c.3214G>A	c.(3214-3216)Gat>Aat	p.D1072N	MYH13_ENST00000252172.4_Missense_Mutation_p.D1072N|RP11-401O9.3_ENST00000577743.1_RNA|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1072					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)			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						TTTTCTAGATCCATAATGGAT	0.443																																					p.D1072N												.	.	0			c.G3214A	17						.						79.0	78.0	78.0					17																	10223711		1867	4094	5961	10164436	SO:0001583	missense	8735	exon25			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.3214G>A	17.37:g.10223711C>T	ENSP00000404570:p.Asp1072Asn		10164436	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692742	0.88735	.	.	ENSG00000006788	ENST00000252172	D	0.85339	-1.97	3.68	3.68	0.42216	Myosin tail (1);	.	.	.	.	D	0.93625	0.7964	M	0.92412	3.305	0.46222	D	0.998939	D	0.67145	0.996	D	0.81914	0.995	D	0.94666	0.7852	9	0.49607	T	0.09	.	15.9467	0.79799	0.0:1.0:0.0:0.0	.	1072	Q9UKX3	MYH13_HUMAN	N	1072	ENSP00000252172:D1072N	ENSP00000252172:D1072N	D	-	1	0	MYH13	10164436	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.495000	0.81514	2.044000	0.60594	0.655000	0.94253	GAT		0.443	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	
MYH8	4626	broad.mit.edu	37	17	10296504	10296504	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10296504C>A	ENST00000403437.2	-	36	5284	c.5190G>T	c.(5188-5190)aaG>aaT	p.K1730N	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1730					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.K1730N(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTAATTTCTTCTTGGTGTTAA	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.K1730N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5190T	17						.						234.0	215.0	221.0					17																	10296504		2203	4300	6503	10237229	SO:0001583	missense	4626	exon36	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5190G>T	17.37:g.10296504C>A	ENSP00000384330:p.Lys1730Asn		10237229	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024091	0.75390	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90004	-2.6	5.21	2.11	0.27256	Myosin tail (1);	0.000000	0.41097	U	0.000954	D	0.93605	0.7958	H	0.97540	4.025	0.47276	D	0.999374	P	0.46395	0.877	P	0.47827	0.558	D	0.93142	0.6542	10	0.87932	D	0	.	10.5708	0.45198	0.0:0.7888:0.0:0.2112	.	1730	P13535	MYH8_HUMAN	N	1730	ENSP00000384330:K1730N	ENSP00000252173:K1730N	K	-	3	2	MYH8	10237229	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.528000	0.45624	0.340000	0.23745	0.585000	0.79938	AAG		0.388	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	broad.mit.edu	37	17	10304474	10304474	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10304474C>T	ENST00000403437.2	-	25	3237	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1048					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1048Q(3)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGATCCATTCGAAGCTTCTT	0.348									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R1048Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3143A	17						.						117.0	103.0	108.0					17																	10304474		2203	4300	6503	10245199	SO:0001583	missense	4626	exon25	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3143G>A	17.37:g.10304474C>T	ENSP00000384330:p.Arg1048Gln		10245199	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987772	0.93106	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.95756	-3.8	5.48	5.48	0.80851	.	0.000000	0.38381	U	0.001703	D	0.98356	0.9454	H	0.97918	4.105	0.58432	D	0.999998	D	0.53885	0.963	P	0.54401	0.751	D	0.99357	1.0916	10	0.87932	D	0	.	19.5559	0.95347	0.0:1.0:0.0:0.0	.	1048	P13535	MYH8_HUMAN	Q	1048	ENSP00000384330:R1048Q	ENSP00000252173:R1048Q	R	-	2	0	MYH8	10245199	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.447000	0.80620	2.861000	0.98227	0.650000	0.86243	CGA		0.348	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH4	4622	broad.mit.edu	37	17	10357057	10357057	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10357057T>G	ENST00000255381.2	-	23	2947	c.2837A>C	c.(2836-2838)aAa>aCa	p.K946T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	946					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.K946T(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						ATCCTCCAGTTTCCTCTTCTT	0.438																																					p.K946T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2837C	17						.						377.0	350.0	359.0					17																	10357057		2203	4300	6503	10297782	SO:0001583	missense	4622	exon23				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.2837A>C	17.37:g.10357057T>G	ENSP00000255381:p.Lys946Thr		10297782	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.025021	0.54683	.	.	ENSG00000141048	ENST00000255381	D	0.93953	-3.32	5.38	5.38	0.77491	.	0.000000	0.39544	U	0.001321	D	0.96153	0.8746	H	0.98388	4.22	0.58432	D	0.999992	B	0.33171	0.4	B	0.33042	0.157	D	0.96444	0.9329	10	0.87932	D	0	.	15.7004	0.77538	0.0:0.0:0.0:1.0	.	946	Q9Y623	MYH4_HUMAN	T	946	ENSP00000255381:K946T	ENSP00000255381:K946T	K	-	2	0	MYH4	10297782	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	7.895000	0.87343	2.173000	0.68751	0.533000	0.62120	AAA		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH1	4619	broad.mit.edu	37	17	10399748	10399748	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10399748C>T	ENST00000226207.5	-	34	4869	c.4775G>A	c.(4774-4776)aGa>aAa	p.R1592K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1592					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1592K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTGGTTTCTCTTCATCTG	0.463																																					p.R1592K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4775A	17						.						235.0	213.0	221.0					17																	10399748		2203	4300	6503	10340473	SO:0001583	missense	4619	exon34				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4775G>A	17.37:g.10399748C>T	ENSP00000226207:p.Arg1592Lys		10340473	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726142	0.69074	.	.	ENSG00000109061	ENST00000226207	T	0.74106	-0.81	5.42	5.42	0.78866	Myosin tail (1);	0.000000	0.47093	U	0.000247	T	0.68860	0.3047	L	0.37630	1.12	0.58432	D	0.999992	B	0.15473	0.013	B	0.24269	0.052	T	0.61744	-0.7000	10	0.27785	T	0.31	.	19.573	0.95428	0.0:1.0:0.0:0.0	.	1592	P12882	MYH1_HUMAN	K	1592	ENSP00000226207:R1592K	ENSP00000226207:R1592K	R	-	2	0	MYH1	10340473	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.725000	0.61979	2.687000	0.91594	0.655000	0.94253	AGA		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10400674	10400674	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10400674C>A	ENST00000226207.5	-	32	4555	c.4461G>T	c.(4459-4461)aaG>aaT	p.K1487N	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1487					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1487N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATTCTTAATCTTAAATAGTT	0.368																																					p.K1487N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4461T	17						.						81.0	79.0	80.0					17																	10400674		2203	4300	6503	10341399	SO:0001583	missense	4619	exon32				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4461G>T	17.37:g.10400674C>A	ENSP00000226207:p.Lys1487Asn		10341399	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291983	0.59976	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.80393	-1.37	5.76	3.73	0.42828	Myosin tail (1);	0.000000	0.45361	U	0.000378	D	0.91002	0.7170	H	0.95079	3.62	0.49213	D	0.999762	D	0.59767	0.986	D	0.68192	0.956	D	0.90748	0.4655	10	0.87932	D	0	.	8.5118	0.33222	0.0:0.7538:0.0:0.2462	.	1487	P12882	MYH1_HUMAN	N	1487;576	ENSP00000226207:K1487N	ENSP00000226207:K1487N	K	-	3	2	MYH1	10341399	0.138000	0.22547	0.894000	0.35097	0.991000	0.79684	0.711000	0.25764	0.818000	0.34468	0.655000	0.94253	AAG		0.368	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH3	4621	broad.mit.edu	37	17	10536097	10536097	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10536097G>T	ENST00000583535.1	-	34	4739	c.4652C>A	c.(4651-4653)gCt>gAt	p.A1551D	MYH3_ENST00000226209.7_Missense_Mutation_p.A1551D	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1551					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.A1551D(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						ATGCTCAAGAGCAGCCTTTAA	0.418																																					p.A1551D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4652A	17						.						115.0	117.0	116.0					17																	10536097		2203	4300	6503	10476822	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.4652C>A	17.37:g.10536097G>T	ENSP00000464317:p.Ala1551Asp		10476822	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903116	0.92035	.	.	ENSG00000109063	ENST00000226209	D	0.82526	-1.62	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.90445	0.7008	M	0.89287	3.02	0.46521	D	0.999087	P	0.35192	0.489	P	0.45794	0.493	D	0.90442	0.4432	9	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	1551	P11055	MYH3_HUMAN	D	1551	ENSP00000226209:A1551D	ENSP00000226209:A1551D	A	-	2	0	MYH3	10476822	1.000000	0.71417	0.953000	0.39169	0.928000	0.56348	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GCT		0.418	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
MYH3	4621	broad.mit.edu	37	17	10541230	10541230	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10541230C>T	ENST00000583535.1	-	28	3839	c.3752G>A	c.(3751-3753)cGa>cAa	p.R1251Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R1251Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1251					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.R1251Q(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						CTCCAGGGTTCGGCAGATTTT	0.502																																					p.R1251Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3752A	17						.						64.0	59.0	61.0					17																	10541230		2203	4300	6503	10481955	SO:0001583	missense	4621	exon27				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.3752G>A	17.37:g.10541230C>T	ENSP00000464317:p.Arg1251Gln		10481955	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055823	0.93793	.	.	ENSG00000109063	ENST00000226209	T	0.78364	-1.17	5.36	5.36	0.76844	Myosin tail (1);	.	.	.	.	D	0.91680	0.7370	H	0.96365	3.81	0.44728	D	0.997729	D	0.63880	0.993	P	0.62649	0.905	D	0.93964	0.7243	9	0.87932	D	0	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	1251	P11055	MYH3_HUMAN	Q	1251	ENSP00000226209:R1251Q	ENSP00000226209:R1251Q	R	-	2	0	MYH3	10481955	1.000000	0.71417	0.947000	0.38551	0.607000	0.37147	7.818000	0.86416	2.665000	0.90641	0.655000	0.94253	CGA		0.502	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
MYH3	4621	broad.mit.edu	37	17	10542942	10542942	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:10542942C>A	ENST00000583535.1	-	23	2947	c.2860G>T	c.(2860-2862)Gac>Tac	p.D954Y	MYH3_ENST00000226209.7_Missense_Mutation_p.D954Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	954					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.D954Y(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						TCATCAATGTCTTTCTTGAGC	0.473																																					p.D954Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2860T	17						.						342.0	318.0	326.0					17																	10542942		2203	4300	6503	10483667	SO:0001583	missense	4621	exon22				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.2860G>T	17.37:g.10542942C>A	ENSP00000464317:p.Asp954Tyr		10483667	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830893	0.71258	.	.	ENSG00000109063	ENST00000226209	D	0.94723	-3.5	4.58	4.58	0.56647	.	.	.	.	.	D	0.98143	0.9387	H	0.95745	3.715	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	D	0.99406	1.0929	9	0.87932	D	0	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	954	P11055	MYH3_HUMAN	Y	954	ENSP00000226209:D954Y	ENSP00000226209:D954Y	D	-	1	0	MYH3	10483667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.907000	0.69908	2.522000	0.85027	0.655000	0.94253	GAC		0.473	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
DNAH9	1770	broad.mit.edu	37	17	11568222	11568222	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:11568222T>G	ENST00000262442.4	+	15	2736	c.2668T>G	c.(2668-2670)Ttg>Gtg	p.L890V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L890V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	890	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.L890V(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)		TATTGACAATTTGTTGCTGAA	0.373																																					p.L890V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2668G	17						.						135.0	135.0	135.0					17																	11568222		2203	4300	6503	11508947	SO:0001583	missense	1770	exon15			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.2668T>G	17.37:g.11568222T>G	ENSP00000262442:p.Leu890Val		11508947	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	7.811	0.715644	0.15306	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26067	1.8;1.76	5.56	4.48	0.54585	.	0.297667	0.37261	N	0.002167	T	0.17492	0.0420	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.03662	-1.1015	10	0.29301	T	0.29	.	12.1198	0.53885	0.8711:0.0:0.0:0.1289	.	890	Q9NYC9	DYH9_HUMAN	V	890	ENSP00000262442:L890V;ENSP00000414874:L890V	ENSP00000262442:L890V	L	+	1	2	DNAH9	11508947	1.000000	0.71417	0.755000	0.31263	0.074000	0.17049	4.697000	0.61782	0.933000	0.37291	-0.383000	0.06682	TTG		0.373	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11738129	11738129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:11738129C>T	ENST00000262442.4	+	49	9489	c.9421C>T	c.(9421-9423)Cag>Tag	p.Q3141*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q3141*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3141	Stalk. {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.Q3141*(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)		AGAGGTGAAACAGAAGCAGAA	0.552																																					p.Q3141X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C9421T	17						.						150.0	105.0	121.0					17																	11738129		2203	4300	6503	11678854	SO:0001587	stop_gained	1770	exon49			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.9421C>T	17.37:g.11738129C>T	ENSP00000262442:p.Gln3141*		11678854	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	51	17.567551	0.99889	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.17	5.17	0.71159	.	0.337202	0.29806	N	0.011157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	17.0449	0.86499	0.0:1.0:0.0:0.0	.	.	.	.	X	3141;3141;1723	.	ENSP00000262442:Q3141X	Q	+	1	0	DNAH9	11678854	0.779000	0.28652	0.971000	0.41717	0.927000	0.56198	0.916000	0.28651	2.683000	0.91414	0.655000	0.94253	CAG		0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
MYOCD	93649	broad.mit.edu	37	17	12639564	12639564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:12639564C>T	ENST00000343344.4	+	6	502	c.502C>T	c.(502-504)Cga>Tga	p.R168*	MYOCD_ENST00000425538.1_Nonsense_Mutation_p.R168*|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Nonsense_Mutation_p.R72*			Q8IZQ8	MYCD_HUMAN	myocardin	168	HDAC5-binding. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R168*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGATCAGACTCGAAGTGAAGA	0.527																																					p.R168X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C502T	17						.						127.0	133.0	131.0					17																	12639564		2203	4300	6503	12580289	SO:0001587	stop_gained	93649	exon6			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.502C>T	17.37:g.12639564C>T	ENSP00000341835:p.Arg168*		12580289	NM_001146312	Q5UBU5|Q8N7Q1	Nonsense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	37	6.093613	0.97276	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	.	.	.	6.03	5.06	0.68205	.	0.310968	0.31370	N	0.007780	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-16.1062	15.8558	0.78977	0.1364:0.8635:0.0:0.0	.	.	.	.	X	168;168;72	.	ENSP00000341835:R168X	R	+	1	2	MYOCD	12580289	0.000000	0.05858	0.966000	0.40874	0.886000	0.51366	-0.090000	0.11163	1.526000	0.49068	0.655000	0.94253	CGA		0.527	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
MYOCD	93649	broad.mit.edu	37	17	12649281	12649281	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:12649281G>A	ENST00000343344.4	+	9	1017	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	MYOCD_ENST00000425538.1_Silent_p.T339T|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.T243T			Q8IZQ8	MYCD_HUMAN	myocardin	339					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.T339T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCTTCAACGCCACTGAGCA	0.423																																					p.T339T												MYOCD,central_nervous_system,brain,Substitution - coding silent,0 	.	2	Substitution - coding silent(2)	large_intestine(1)|central_nervous_system(1)	c.G1017A	17						.						168.0	162.0	164.0					17																	12649281		2203	4300	6503	12590006	SO:0001819	synonymous_variant	93649	exon9			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1017G>A	17.37:g.12649281G>A			12590006	NM_001146312	Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	CCDS11163.1																																																																																				0.423	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
MYOCD	93649	broad.mit.edu	37	17	12666581	12666581	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:12666581T>C	ENST00000343344.4	+	13	2437	c.2437T>C	c.(2437-2439)Tcc>Ccc	p.S813P	MYOCD_ENST00000425538.1_Missense_Mutation_p.S861P|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	813					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.S813P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTATTAAATTCCCAGAGCCC	0.493																																					p.S861P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2581C	17						.						85.0	85.0	85.0					17																	12666581		2203	4300	6503	12607306	SO:0001583	missense	93649	exon14			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2437T>C	17.37:g.12666581T>C	ENSP00000341835:p.Ser813Pro		12607306	NM_001146312	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063872	0.55432	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.52057	0.73;0.68	6.08	5.01	0.66863	.	0.125811	0.52532	N	0.000062	T	0.42585	0.1209	L	0.51422	1.61	0.80722	D	1	B;B;B	0.14805	0.007;0.011;0.007	B;B;B	0.17433	0.008;0.018;0.008	T	0.25813	-1.0121	10	0.44086	T	0.13	-18.0283	11.2742	0.49157	0.0:0.0719:0.0:0.9281	.	537;861;813	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	P	537;861;813;523	ENSP00000341835:S813P;ENSP00000400148:S523P	ENSP00000341835:S813P	S	+	1	0	MYOCD	12607306	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	1.161000	0.31773	1.132000	0.42129	0.533000	0.62120	TCC		0.493	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
ARHGAP44	9912	broad.mit.edu	37	17	12893374	12893374	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:12893374G>A	ENST00000379672.5	+	21	2643	c.2343G>A	c.(2341-2343)tcG>tcA	p.S781S	ARHGAP44_ENST00000262444.9_3'UTR|ARHGAP44_ENST00000340825.3_Silent_p.S775S|RP11-597M12.1_ENST00000582915.1_RNA	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	781	Interaction with BST2.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.S781S(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ATATTCCCTCGATCCACATAG	0.542																																					p.S781S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2343A	17						.						98.0	97.0	98.0					17																	12893374		2002	4179	6181	12834099	SO:0001819	synonymous_variant	9912	exon21				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.2343G>A	17.37:g.12893374G>A			12834099	NM_014859	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	CCDS45616.1																																																																																				0.542	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
HS3ST3B1	9953	broad.mit.edu	37	17	14248946	14248946	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:14248946G>A	ENST00000360954.2	+	2	1592	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	386					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)	p.D386N(1)		large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GACCGGGCACGACTTTGGCTG	0.512																																					p.D386N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156A	17						.						81.0	89.0	86.0					17																	14248946		2203	4300	6503	14189671	SO:0001583	missense	9953	exon2			AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.1156G>A	17.37:g.14248946G>A	ENSP00000354213:p.Asp386Asn		14189671	NM_006041	B3KN58|D3DTS6	Missense_Mutation	SNP	ENST00000360954.2	37	CCDS11167.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469843	0.43839	.	.	ENSG00000125430	ENST00000360954	T	0.49432	0.78	4.85	4.85	0.62838	.	0.218966	0.36932	U	0.002324	T	0.44808	0.1311	L	0.52823	1.66	0.48236	D	0.999611	B	0.26577	0.153	B	0.15484	0.013	T	0.34527	-0.9825	10	0.30078	T	0.28	.	18.8545	0.92246	0.0:0.0:1.0:0.0	.	386	Q9Y662	HS3SB_HUMAN	N	386	ENSP00000354213:D386N	ENSP00000354213:D386N	D	+	1	0	HS3ST3B1	14189671	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	3.571000	0.53841	2.621000	0.88768	0.557000	0.71058	GAC		0.512	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	NM_006041	
TEKT3	64518	broad.mit.edu	37	17	15234876	15234876	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:15234876C>T	ENST00000395930.1	-	3	213	c.27G>A	c.(25-27)acG>acA	p.T9T	TEKT3_ENST00000338696.2_Silent_p.T9T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	9					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.T9T(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)		CGTAAGTTGTCGTTAAAGTAC	0.403																																					p.T9T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G27A	17						.						85.0	80.0	82.0					17																	15234876		2203	4300	6503	15175601	SO:0001819	synonymous_variant	64518	exon3			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.27G>A	17.37:g.15234876C>T			15175601	NM_031898	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	CCDS11169.1																																																																																				0.403	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898	
CDRT1	374286	broad.mit.edu	37	17	15522450	15522450	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:15522450G>A	ENST00000395906.3	-	1	376	c.377C>T	c.(376-378)gCg>gTg	p.A126V	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	126								p.A126V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GGTGCTGTTCGCAAACCAATA	0.453																																					p.A126V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C377T	17						.						155.0	159.0	158.0					17																	15522450		2203	4299	6502	15463175	SO:0001583	missense	374286	exon1			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.377C>T	17.37:g.15522450G>A	ENSP00000379242:p.Ala126Val		15463175	NM_006382	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	.	3.127	-0.179227	0.06380	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	T;T	0.26223	1.75;1.89	4.77	-4.22	0.03800	.	.	.	.	.	T	0.09113	0.0225	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27872	-1.0061	9	0.51188	T	0.08	.	1.4935	0.02461	0.2095:0.1821:0.3789:0.2295	.	126	O95170	CDRT1_HUMAN	V	126	ENSP00000261644:A126V;ENSP00000379242:A126V	ENSP00000261644:A126V	A	-	2	0	RP11-385D13.1	15463175	0.000000	0.05858	0.026000	0.17262	0.103000	0.19146	-2.501000	0.00966	-0.295000	0.08960	-1.912000	0.00520	GCG		0.453	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	
ZNF286A	57335	broad.mit.edu	37	17	15619817	15619817	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:15619817G>A	ENST00000464847.2	+	5	1332	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	ZNF286A_ENST00000593105.1_Missense_Mutation_p.R250Q|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R260Q|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R260Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R260Q|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	260					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.R260Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GTGCTTATTCGACACCAGAGA	0.363																																					p.R260Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G779A	17						.						56.0	56.0	56.0					17																	15619817		2203	4300	6503	15560542	SO:0001583	missense	57335	exon6			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.779G>A	17.37:g.15619817G>A	ENSP00000464218:p.Arg260Gln		15560542	NM_001130842	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	2.708	-0.269374	0.05716	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.26223	1.75;1.75	4.38	3.39	0.38822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33670	N	0.004679	T	0.16300	0.0392	L	0.48218	1.51	0.19575	N	0.999962	B	0.22909	0.077	B	0.11329	0.006	T	0.32771	-0.9894	10	0.02654	T	1	-9.6042	8.3403	0.32239	0.1114:0.0:0.8886:0.0	.	260	Q9HBT8	Z286A_HUMAN	Q	260;250;260	ENSP00000397163:R260Q;ENSP00000408168:R250Q	ENSP00000435872:R260Q	R	+	2	0	ZNF286A	15560542	0.000000	0.05858	0.996000	0.52242	0.949000	0.60115	-1.394000	0.02518	2.253000	0.74438	0.650000	0.86243	CGA		0.363	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652	
NCOR1	9611	broad.mit.edu	37	17	16024540	16024540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:16024540C>A	ENST00000268712.3	-	16	1935	c.1678G>T	c.(1678-1680)Gaa>Taa	p.E560*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.E560*|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.E451*|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	560					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|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)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E560*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCTCAGTTTCTTCTGCTGTA	0.483																																					p.E560X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1678T	17						.						99.0	97.0	98.0					17																	16024540		2203	4300	6503	15965265	SO:0001587	stop_gained	9611	exon15			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1678G>T	17.37:g.16024540C>A	ENSP00000268712:p.Glu560*		15965265	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	39	7.676283	0.98428	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	.	.	.	5.8	5.8	0.92144	.	0.090399	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.1607	19.0512	0.93046	0.0:1.0:0.0:0.0	.	.	.	.	X	560;560;451;451	.	ENSP00000268712:E560X	E	-	1	0	NCOR1	15965265	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.629000	0.83207	2.735000	0.93741	0.655000	0.94253	GAA		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
NCOR1	9611	broad.mit.edu	37	17	16029503	16029503	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:16029503C>T	ENST00000268712.3	-	15	1784	c.1527G>A	c.(1525-1527)tcG>tcA	p.S509S	NCOR1_ENST00000395851.1_Silent_p.S509S|NCOR1_ENST00000395848.1_Silent_p.S400S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	509					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|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)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S509S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		tttcttcttGCGAGGGTCGAG	0.313																																					p.S509S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1527A	17						.						40.0	41.0	41.0					17																	16029503		2199	4292	6491	15970228	SO:0001819	synonymous_variant	9611	exon14			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1527G>A	17.37:g.16029503C>T			15970228	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.313	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
MED9	55090	broad.mit.edu	37	17	17394791	17394791	+	Silent	SNP	C	C	T	rs200340000	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:17394791C>T	ENST00000268711.3	+	2	479	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	141						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.F141F(1)		cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCTGCATGTTCGAAATCCCCA	0.567													C|||	3	0.000599042	0.0	0.0	5008	,	,		18493	0.003		0.0	False		,,,				2504	0.0				p.F141F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	17						.						58.0	59.0	59.0					17																	17394791		2203	4300	6503	17335516	SO:0001819	synonymous_variant	55090	exon2			BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.423C>T	17.37:g.17394791C>T			17335516	NM_018019		Silent	SNP	ENST00000268711.3	37	CCDS11184.1																																																																																				0.567	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019	
LRRC48	83450	broad.mit.edu	37	17	17907769	17907769	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:17907769G>A	ENST00000399187.1	+	10	1310	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	LRRC48_ENST00000313838.8_Silent_p.A364A|LRRC48_ENST00000584166.1_Silent_p.A364A|LRRC48_ENST00000399182.1_Silent_p.A364A|LRRC48_ENST00000411504.2_Silent_p.A364A	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	364			A -> V (in dbSNP:rs11656629).			cytoplasm (GO:0005737)		p.A364A(1)		breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TGTTCGATGCGCTCATGACGC	0.527																																					p.A364A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1092A	17						.						84.0	84.0	84.0					17																	17907769		2144	4268	6412	17848494	SO:0001819	synonymous_variant	83450	exon10			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1092G>A	17.37:g.17907769G>A			17848494	NM_031294	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	ENST00000399187.1	37	CCDS45622.1																																																																																				0.527	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294	
ALDH3A2	224	broad.mit.edu	37	17	19575079	19575079	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:19575079C>T	ENST00000176643.6	+	9	1699	c.1253C>T	c.(1252-1254)aCt>aTt	p.T418I	ALDH3A2_ENST00000395575.2_Missense_Mutation_p.T418I|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.T418I|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.T418I|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.T418I			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	418					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.T418I(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)					AGTTTTGATACTTTTTCTCAT	0.408																																					p.T418I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1253T	17						.						110.0	112.0	112.0					17																	19575079		2203	4300	6503	19515671	SO:0001583	missense	224	exon9			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.1253C>T	17.37:g.19575079C>T	ENSP00000176643:p.Thr418Ile		19515671	NM_000382	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198283	0.38806	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	T;T;T	0.76316	-1.01;-1.01;-1.01	6.06	6.06	0.98353	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.197117	0.53938	D	0.000057	D	0.84492	0.5484	M	0.85197	2.74	0.80722	D	1	P;P	0.35684	0.515;0.459	B;B	0.41412	0.356;0.188	D	0.84942	0.0866	10	0.66056	D	0.02	-33.5651	19.6125	0.95613	0.0:1.0:0.0:0.0	.	418;418	P51648;P51648-2	AL3A2_HUMAN;.	I	418	ENSP00000176643:T418I;ENSP00000378942:T418I;ENSP00000345774:T418I	ENSP00000176643:T418I	T	+	2	0	ALDH3A2	19515671	0.909000	0.30893	0.999000	0.59377	0.852000	0.48524	2.963000	0.49184	2.879000	0.98667	0.650000	0.86243	ACT		0.408	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1		
METTL16	79066	broad.mit.edu	37	17	2323297	2323297	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:2323297A>G	ENST00000263092.6	-	10	1783	c.1656T>C	c.(1654-1656)cgT>cgC	p.R552R	METTL16_ENST00000538844.1_Silent_p.R334R|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	552							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R552R(1)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						AAATTTGGTTACGTATGTAGG	0.478																																					p.R552R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1656C	17						.						92.0	91.0	91.0					17																	2323297		2018	4175	6193	2270047	SO:0001819	synonymous_variant	79066	exon10			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1656T>C	17.37:g.2323297A>G			2270047	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	ENST00000263092.6	37	CCDS42232.1																																																																																				0.478	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
METTL16	79066	broad.mit.edu	37	17	2323692	2323692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:2323692C>A	ENST00000263092.6	-	10	1388	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	METTL16_ENST00000538844.1_Nonsense_Mutation_p.E203*|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	421							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.E421*(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTGGCCAGTTCTTGGCTATTG	0.647																																					p.E421X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1261T	17						.						65.0	71.0	69.0					17																	2323692		1817	4070	5887	2270442	SO:0001587	stop_gained	79066	exon10			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1261G>T	17.37:g.2323692C>A	ENSP00000263092:p.Glu421*		2270442	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Nonsense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412410	0.83340	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	.	.	.	5.62	3.64	0.41730	.	0.308092	0.34386	N	0.004014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-0.214	7.9908	0.30239	0.0:0.7494:0.0:0.2506	.	.	.	.	X	421;101;203	.	ENSP00000263092:E421X	E	-	1	0	METTL16	2270442	0.021000	0.18746	0.013000	0.15412	0.398000	0.30690	1.836000	0.39191	0.733000	0.32492	0.609000	0.83330	GAA		0.647	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
ALDH3A1	218	broad.mit.edu	37	17	19645898	19645898	+	Missense_Mutation	SNP	G	G	A	rs545815877	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:19645898G>A	ENST00000457500.2	-	3	769	c.440C>T	c.(439-441)gCg>gTg	p.A147V	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A147V|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.A74V|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A147V|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A147V|ALDH3A1_ENST00000485231.1_5'Flank	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	147					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.A147V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CAGCAGGCTCGCCATGTTCTC	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		19204	0.0		0.0	False		,,,				2504	0.002				p.A147V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440T	17						.						154.0	117.0	130.0					17																	19645898		2203	4300	6503	19586490	SO:0001583	missense	218	exon3			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.440C>T	17.37:g.19645898G>A	ENSP00000411821:p.Ala147Val		19586490	NM_001135168	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413602	0.83449	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	4.63	3.64	0.41730	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.360339	0.31660	N	0.007266	D	0.93080	0.7797	M	0.90977	3.165	0.53005	D	0.999964	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.77557	0.9;0.99;0.9	D	0.93568	0.6901	10	0.66056	D	0.02	.	12.4204	0.55518	0.0:0.0:0.6975:0.3025	.	147;264;147	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	V	147;147;205;147;147;74;147;147	ENSP00000225740:A147V;ENSP00000378923:A147V;ENSP00000388469:A147V;ENSP00000411821:A147V;ENSP00000389766:A147V	ENSP00000225740:A147V	A	-	2	0	ALDH3A1	19586490	0.207000	0.23482	0.592000	0.28758	0.977000	0.68977	2.808000	0.47963	0.925000	0.37094	0.563000	0.77884	GCG		0.607	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691	
KIAA0100	9703	broad.mit.edu	37	17	26955433	26955433	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:26955433T>G	ENST00000528896.2	-	24	4518	c.4444A>C	c.(4444-4446)Aat>Cat	p.N1482H	KIAA0100_ENST00000389003.3_Missense_Mutation_p.N1339H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.N1339H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1482						extracellular region (GO:0005576)		p.N1482H(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)					GTAGAAAGATTACGTTTGAGT	0.483																																					p.N1482H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4444C	17						.						171.0	152.0	159.0					17																	26955433		2203	4300	6503	23979560	SO:0001583	missense	9703	exon24			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.4444A>C	17.37:g.26955433T>G	ENSP00000436773:p.Asn1482His		23979560	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524631	0.85600	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.29397	1.57;1.58	5.65	5.65	0.86999	.	0.092409	0.64402	D	0.000001	T	0.54127	0.1839	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.50915	-0.8771	10	0.20046	T	0.44	.	15.8805	0.79201	0.0:0.0:0.0:1.0	.	1482	Q14667	K0100_HUMAN	H	1482;1452;1482;1339	ENSP00000436773:N1482H;ENSP00000446443:N1339H	ENSP00000005905:N1482H	N	-	1	0	KIAA0100	23979560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.356000	0.79445	2.162000	0.67917	0.533000	0.62120	AAT		0.483	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
EFCAB5	374786	broad.mit.edu	37	17	28419039	28419039	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:28419039C>A	ENST00000394835.3	+	21	4280	c.4088C>A	c.(4087-4089)tCt>tAt	p.S1363Y	EFCAB5_ENST00000320856.5_Missense_Mutation_p.S1239Y|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1363							calcium ion binding (GO:0005509)	p.S1363Y(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGCCAAATTCTCCTCAAGAC	0.433																																					p.S1363Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4088A	17						.						85.0	87.0	86.0					17																	28419039		1934	4142	6076	25443165	SO:0001583	missense	374786	exon21			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4088C>A	17.37:g.28419039C>A	ENSP00000378312:p.Ser1363Tyr		25443165	NM_198529	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.828596	0.00584	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.10288	2.89;2.9;2.9	4.54	-1.44	0.08856	.	2.990490	0.00837	N	0.001700	T	0.11922	0.0290	L	0.51422	1.61	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.33904	-0.9850	10	0.49607	T	0.09	5.4462	5.5968	0.17331	0.3747:0.4538:0.0:0.1714	.	1239;1363	E7EVS9;A4FU69	.;EFCB5_HUMAN	Y	1363;1239;1045	ENSP00000378312:S1363Y;ENSP00000322003:S1239Y;ENSP00000417009:S1045Y	ENSP00000322003:S1239Y	S	+	2	0	EFCAB5	25443165	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	-0.442000	0.07190	-1.113000	0.02065	TCT		0.433	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
CPD	1362	broad.mit.edu	37	17	28750560	28750560	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:28750560G>A	ENST00000225719.4	+	6	1770	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	CPD_ENST00000543464.2_Missense_Mutation_p.G318E	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	565	Carboxypeptidase-like 2.					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.G565E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AATATGCATGGAAATGAAGTG	0.353																																					p.G318E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G953A	17						.						121.0	117.0	119.0					17																	28750560		2203	4300	6503	25774686	SO:0001583	missense	1362	exon6			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.1694G>A	17.37:g.28750560G>A	ENSP00000225719:p.Gly565Glu		25774686	NM_001199775	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873981	0.91664	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.15139	2.45;2.45	5.62	5.62	0.85841	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73924	-0.3829	10	0.87932	D	0	.	18.6634	0.91479	0.0:0.0:1.0:0.0	.	318;565	F5GZH6;O75976	.;CBPD_HUMAN	E	565;318	ENSP00000225719:G565E;ENSP00000444443:G318E	ENSP00000225719:G565E	G	+	2	0	CPD	25774686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.648000	0.89879	0.563000	0.77884	GGA		0.353	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
GOSR1	9527	broad.mit.edu	37	17	28819768	28819768	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:28819768G>A	ENST00000225724.5	+	6	584	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	GOSR1_ENST00000451249.2_Missense_Mutation_p.R169Q|GOSR1_ENST00000581721.1_Missense_Mutation_p.R167Q|GOSR1_ENST00000467337.2_Missense_Mutation_p.R106Q	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	171					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.R171Q(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GACCACCTTCGAAAGTAGGTA	0.318																																					p.R106Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317A	17						.						123.0	126.0	125.0					17																	28819768		2203	4300	6503	25843894	SO:0001583	missense	9527	exon6			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.512G>A	17.37:g.28819768G>A	ENSP00000225724:p.Arg171Gln		25843894	NM_001007024	J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225507	0.95173	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833;ENST00000427274	T;T	0.76060	-0.99;-0.99	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.61703	1.905	0.54753	D	0.999984	D;D	0.69078	0.997;0.997	D;D	0.68353	0.957;0.957	T	0.77035	-0.2737	10	0.06625	T	0.88	-3.6859	16.6913	0.85322	0.0:0.0:1.0:0.0	.	171;169	O95249;E9PCW1	GOSR1_HUMAN;.	Q	171;169;106;169	ENSP00000225724:R171Q;ENSP00000414441:R169Q	ENSP00000225724:R171Q	R	+	2	0	GOSR1	25843894	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.860000	0.92272	2.298000	0.77334	0.563000	0.77884	CGA		0.318	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2		
ATAD5	79915	broad.mit.edu	37	17	29162874	29162874	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:29162874A>C	ENST00000321990.4	+	2	2153	c.1775A>C	c.(1774-1776)aAg>aCg	p.K592T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	592					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.K592T(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)				TCCACGCCCAAGTCAACTAGA	0.373																																					p.K592T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1775C	17						.						86.0	79.0	81.0					17																	29162874		2203	4300	6503	26187000	SO:0001583	missense	79915	exon2				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.1775A>C	17.37:g.29162874A>C	ENSP00000313171:p.Lys592Thr		26187000	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	0.322	-0.961095	0.02249	.	.	ENSG00000176208	ENST00000321990	T	0.09538	2.97	5.31	3.11	0.35812	.	1.046800	0.07421	N	0.893944	T	0.18087	0.0434	M	0.62723	1.935	0.09310	N	1	P;D	0.53619	0.873;0.961	P;P	0.49637	0.599;0.617	T	0.19484	-1.0304	10	0.87932	D	0	.	3.9178	0.09230	0.6747:0.0:0.1707:0.1545	.	592;592	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	T	592	ENSP00000313171:K592T	ENSP00000313171:K592T	K	+	2	0	ATAD5	26187000	0.759000	0.28416	0.069000	0.20011	0.160000	0.22226	1.424000	0.34848	0.425000	0.26087	0.533000	0.62120	AAG		0.373	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
C17orf97	400566	broad.mit.edu	37	17	263193	263193	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:263193C>T	ENST00000360127.6	+	2	575	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	187								p.R187C(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGAAAGGATTCGCATCTATAA	0.567																																					p.R187C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C559T	17						.						72.0	80.0	77.0					17																	263193		2203	4300	6503	263509	SO:0001583	missense	400566	exon2			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.559C>T	17.37:g.263193C>T	ENSP00000353245:p.Arg187Cys		263509	NM_001013672	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334291	0.60853	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.58652	0.95;0.32	5.02	4.05	0.47172	.	0.000000	0.42053	D	0.000771	T	0.45175	0.1329	L	0.32530	0.975	0.80722	D	1	D	0.54397	0.966	B	0.42163	0.378	T	0.46843	-0.9162	10	0.54805	T	0.06	-9.5216	10.0444	0.42177	0.0:0.9048:0.0:0.0952	.	187	Q6ZQX7-4	.	C	187;181	ENSP00000353245:R187C;ENSP00000419482:R181C	ENSP00000353245:R187C	R	+	1	0	C17orf97	263509	0.870000	0.30015	0.865000	0.33974	0.486000	0.33341	1.842000	0.39250	1.433000	0.47394	0.655000	0.94253	CGC		0.567	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672	
ADAP2	55803	broad.mit.edu	37	17	29253897	29253897	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:29253897T>C	ENST00000330889.3	+	3	613	c.278T>C	c.(277-279)gTc>gCc	p.V93A	ADAP2_ENST00000580525.1_Missense_Mutation_p.V99A	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	93	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.V93A(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAAGCCAGAGTCCCAGCTTTC	0.517																																					p.V93A												.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|central_nervous_system(1)	c.T278C	17						.						125.0	100.0	109.0					17																	29253897		2203	4300	6503	26278023	SO:0001583	missense	55803	exon3			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.278T>C	17.37:g.29253897T>C	ENSP00000329468:p.Val93Ala		26278023	NM_018404	Q8N4Q6|Q96SD5	Missense_Mutation	SNP	ENST00000330889.3	37	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568146	0.45798	.	.	ENSG00000184060	ENST00000330889	T	0.42900	0.96	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.70787	2.145	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.989;0.998	T	0.66288	-0.5961	10	0.87932	D	0	.	11.9612	0.53009	0.0:0.0:0.0:1.0	.	99;93;93	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	A	93	ENSP00000329468:V93A	ENSP00000329468:V93A	V	+	2	0	ADAP2	26278023	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.714000	0.74692	2.100000	0.63781	0.459000	0.35465	GTC		0.517	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404	
OMG	4974	broad.mit.edu	37	17	29622114	29622114	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:29622114C>A	ENST00000247271.4	-	2	1497	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	412					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)|p.K412N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GTAATGGAGTCTTTACATTTG	0.413																																					p.K412N												.	.	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|large_intestine(1)|central_nervous_system(1)	c.G1236T	17						.						282.0	256.0	265.0					17																	29622114		2203	4300	6503	26646240	SO:0001583	missense	4974	exon2				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.1236G>T	17.37:g.29622114C>A	ENSP00000247271:p.Lys412Asn		26646240	NM_002544	E1P659	Missense_Mutation	SNP	ENST00000247271.4	37	CCDS11265.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.065485	0.00382	.	.	ENSG00000126861	ENST00000247271	T	0.60040	0.22	4.98	1.65	0.23941	.	0.220457	0.31381	N	0.007759	T	0.29945	0.0749	N	0.04508	-0.205	0.24470	N	0.994392	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	10	0.26408	T	0.33	-1.6377	9.5094	0.39067	0.1861:0.4892:0.3247:0.0	.	412	P23515	OMGP_HUMAN	N	412	ENSP00000247271:K412N	ENSP00000247271:K412N	K	-	3	2	OMG	26646240	0.445000	0.25657	1.000000	0.80357	0.947000	0.59692	-0.213000	0.09305	1.194000	0.43101	0.655000	0.94253	AAG		0.413	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544	
OMG	4974	broad.mit.edu	37	17	29622794	29622794	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:29622794T>C	ENST00000247271.4	-	2	817	c.556A>G	c.(556-558)Aca>Gca	p.T186A	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	186					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)|p.T186A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTTATTAATGTACCTGGAAGA	0.383																																					p.T186A												.	.	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|large_intestine(1)|central_nervous_system(1)	c.A556G	17						.						179.0	182.0	181.0					17																	29622794		2203	4300	6503	26646920	SO:0001583	missense	4974	exon2				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.556A>G	17.37:g.29622794T>C	ENSP00000247271:p.Thr186Ala		26646920	NM_002544	E1P659	Missense_Mutation	SNP	ENST00000247271.4	37	CCDS11265.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761930	0.31228	.	.	ENSG00000126861	ENST00000247271	T	0.55413	0.52	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.49541	0.1563	N	0.11064	0.09	0.53688	D	0.999971	D	0.56287	0.975	P	0.60541	0.876	T	0.46091	-0.9216	10	0.14252	T	0.57	-5.9061	16.3188	0.82938	0.0:0.0:0.0:1.0	.	186	P23515	OMGP_HUMAN	A	186	ENSP00000247271:T186A	ENSP00000247271:T186A	T	-	1	0	OMG	26646920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.963000	0.70372	2.320000	0.78422	0.528000	0.53228	ACA		0.383	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544	
NF1	4763	broad.mit.edu	37	17	29683492	29683492	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:29683492T>G	ENST00000358273.4	+	52	8013	c.7630T>G	c.(7630-7632)Ttt>Gtt	p.F2544V	NF1_ENST00000444181.2_Missense_Mutation_p.F337V|NF1_ENST00000417592.2_Missense_Mutation_p.F204C|NF1_ENST00000356175.3_Missense_Mutation_p.F2523V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2544					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.F2544V(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAGGAAAAGTTTTGATCACTT	0.348			"""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.F2523V		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|large_intestine(1)|central_nervous_system(1)	c.T7567G	17						.						84.0	82.0	83.0					17																	29683492		2203	4300	6503	26707618	SO:0001583	missense	4763	exon51	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.7630T>G	17.37:g.29683492T>G	ENSP00000351015:p.Phe2544Val		26707618	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.10|16.10	3.028371|3.028371	0.54790|0.54790	.|.	.|.	ENSG00000196712|ENSG00000196712	ENST00000417592|ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.|T;T;T;T	.|0.50001	.|3.2;3.35;3.03;0.76	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Armadillo-type fold (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.46157|0.46157	1.445|1.445	0.33541|0.33541	D|D	0.594828|0.594828	.|D;D;D	.|0.61080	.|0.989;0.981;0.967	.|D;D;D	.|0.72982	.|0.979;0.962;0.916	T|T	0.72478|0.72478	-0.4281|-0.4281	7|10	0.87932|0.59425	D|D	0|0.04	.|.	16.2026|16.2026	0.82095|0.82095	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|337;2523;2544	.|B4DXH1;P21359-2;P21359	.|.;.;NF1_HUMAN	C|V	204|2544;2523;2189;337	.|ENSP00000351015:F2544V;ENSP00000348498:F2523V;ENSP00000389907:F2189V;ENSP00000396481:F337V	ENSP00000398991:F204C|ENSP00000348498:F2523V	F|F	+|+	2|1	0|0	NF1|NF1	26707618|26707618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.315000|7.315000	0.78998|0.78998	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
UTP6	55813	broad.mit.edu	37	17	30200436	30200436	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:30200436C>T	ENST00000261708.4	-	16	1594	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	486					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.R486Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GCCACCACTTCGATAAGCCCA	0.438																																					p.R486Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1457A	17						.						103.0	106.0	105.0					17																	30200436		2203	4300	6503	27224549	SO:0001583	missense	55813	exon16			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1457G>A	17.37:g.30200436C>T	ENSP00000261708:p.Arg486Gln		27224549	NM_018428	Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717390	0.48622	.	.	ENSG00000108651	ENST00000261708	T	0.34072	1.38	5.11	5.11	0.69529	Tetratricopeptide-like helical (1);	0.186525	0.44688	D	0.000437	T	0.35008	0.0917	M	0.69823	2.125	0.42668	D	0.993509	B;B	0.30605	0.287;0.287	B;B	0.17433	0.018;0.012	T	0.23476	-1.0187	10	0.11794	T	0.64	-7.3008	16.6696	0.85262	0.0:1.0:0.0:0.0	.	486;486	B3KQ21;Q9NYH9	.;UTP6_HUMAN	Q	486	ENSP00000261708:R486Q	ENSP00000261708:R486Q	R	-	2	0	UTP6	27224549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.581000	0.53914	2.540000	0.85666	0.650000	0.86243	CGA		0.438	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428	
RHBDL3	162494	broad.mit.edu	37	17	30632384	30632384	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:30632384A>G	ENST00000269051.4	+	7	820	c.806A>G	c.(805-807)gAc>gGc	p.D269G	RHBDL3_ENST00000536287.1_Missense_Mutation_p.D171G|RHBDL3_ENST00000538145.1_Missense_Mutation_p.D261G	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	269						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.D269G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCTGTGGCTGACATGACCGCT	0.577																																					p.D269G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A806G	17						.						168.0	136.0	147.0					17																	30632384		2203	4300	6503	27656497	SO:0001583	missense	162494	exon7			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.806A>G	17.37:g.30632384A>G	ENSP00000269051:p.Asp269Gly		27656497	NM_138328	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003423	0.93287	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.14516	2.5;2.5;2.5	6.02	6.02	0.97574	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.52266	1.64	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.01729	-1.1286	10	0.87932	D	0	.	14.7719	0.69684	1.0:0.0:0.0:0.0	.	261;269	Q495Y5;P58872	.;RHBL3_HUMAN	G	269;261;171	ENSP00000269051:D269G;ENSP00000442092:D261G;ENSP00000466508:D171G	ENSP00000269051:D269G	D	+	2	0	RHBDL3	27656497	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.132000	0.89603	2.304000	0.77564	0.528000	0.53228	GAC		0.577	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
ASIC2	40	broad.mit.edu	37	17	31344629	31344629	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:31344629A>C	ENST00000359872.6	-	8	2123	c.1362T>G	c.(1360-1362)atT>atG	p.I454M	ASIC2_ENST00000225823.2_Missense_Mutation_p.I505M	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	454					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.I505M(1)|p.I454M(1)								Amiloride(DB00594)	TTACCTCATAAATATAATCAA	0.473																																					p.I505M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1515G	17						.						78.0	75.0	76.0					17																	31344629		2203	4300	6503	28368742	SO:0001583	missense	40	exon8			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1362T>G	17.37:g.31344629A>C	ENSP00000352934:p.Ile454Met		28368742	NM_183377	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	a	12.35	1.912232	0.33721	.	.	ENSG00000108684	ENST00000225823;ENST00000359872	T;T	0.64260	-0.09;-0.09	4.45	1.99	0.26369	.	0.243931	0.39909	N	0.001236	T	0.58061	0.2096	M	0.62723	1.935	0.42783	D	0.993875	B;B	0.28760	0.061;0.221	B;B	0.39771	0.102;0.309	T	0.61501	-0.7050	10	0.54805	T	0.06	-6.7672	3.2058	0.06665	0.5347:0.0:0.1119:0.3534	.	454;505	Q16515;E9PBX2	ACCN1_HUMAN;.	M	505;454	ENSP00000225823:I505M;ENSP00000352934:I454M	ENSP00000225823:I505M	I	-	3	3	ACCN1	28368742	0.434000	0.25570	1.000000	0.80357	0.918000	0.54935	-0.159000	0.10056	1.762000	0.52044	0.459000	0.35465	ATT		0.473	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
ASIC2	40	broad.mit.edu	37	17	32483139	32483139	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:32483139C>T	ENST00000359872.6	-	1	1174	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	138					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.R138Q(1)								Amiloride(DB00594)	GGCCTTCTGCCGCAGGGCCTC	0.592																																					p.R138Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	17						.						88.0	97.0	94.0					17																	32483139		2133	4248	6381	29507252	SO:0001583	missense	40	exon1			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.413G>A	17.37:g.32483139C>T	ENSP00000352934:p.Arg138Gln		29507252	NM_001094	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271345	0.05716	.	.	ENSG00000108684	ENST00000359872	T	0.62788	0.0	4.96	2.97	0.34412	.	.	.	.	.	T	0.48241	0.1489	L	0.39245	1.2	0.21675	N	0.999595	B	0.02656	0.0	B	0.04013	0.001	T	0.30238	-0.9985	9	0.11485	T	0.65	.	9.4774	0.38880	0.0:0.826:0.0:0.174	.	138	Q16515	ACCN1_HUMAN	Q	138	ENSP00000352934:R138Q	ENSP00000352934:R138Q	R	-	2	0	ACCN1	29507252	0.992000	0.36948	0.994000	0.49952	0.957000	0.61999	0.613000	0.24299	0.677000	0.31305	0.655000	0.94253	CGG		0.592	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
CCL13	6357	broad.mit.edu	37	17	32683553	32683553	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:32683553T>C	ENST00000225844.2	+	1	83	c.8T>C	c.(7-9)gTc>gCc	p.V3A		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	3					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.V3A(1)		large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AACATGAAAGTCTCTGCAGTG	0.517																																					p.V3A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8C	17						.						184.0	174.0	178.0					17																	32683553		2203	4300	6503	29707666	SO:0001583	missense	6357	exon1			AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.8T>C	17.37:g.32683553T>C	ENSP00000225844:p.Val3Ala		29707666	NM_005408	O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344025	0.24339	.	.	ENSG00000181374	ENST00000225844	T	0.03242	4.0	4.05	1.66	0.24008	.	1.093290	0.07403	U	0.891053	T	0.03739	0.0106	.	.	.	0.09310	N	1	B	0.33345	0.409	B	0.33690	0.168	T	0.45644	-0.9247	9	0.54805	T	0.06	.	4.3417	0.11113	0.2019:0.0:0.2099:0.5882	.	3	Q99616	CCL13_HUMAN	A	3	ENSP00000225844:V3A	ENSP00000225844:V3A	V	+	2	0	CCL13	29707666	0.000000	0.05858	0.070000	0.20053	0.008000	0.06430	0.075000	0.14686	0.108000	0.17862	-0.446000	0.05623	GTC		0.517	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408	
OR1A1	8383	broad.mit.edu	37	17	3119771	3119771	+	Missense_Mutation	SNP	T	T	C	rs371126226		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:3119771T>C	ENST00000304094.1	+	1	857	c.857T>C	c.(856-858)tTc>tCc	p.F286S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F286S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTAAATCCTTTCATCTACAGT	0.468																																					p.F286S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T857C	17						.						123.0	116.0	119.0					17																	3119771		2203	4300	6503	3066521	SO:0001583	missense	8383	exon1			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.857T>C	17.37:g.3119771T>C	ENSP00000305207:p.Phe286Ser		3066521	NM_014565	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099197	0.76983	.	.	ENSG00000172146	ENST00000304094	T	0.41400	1.0	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.76076	0.3937	H	0.97587	4.035	0.38539	D	0.949161	D	0.89917	1.0	D	0.85130	0.997	D	0.86007	0.1498	10	0.87932	D	0	.	13.763	0.62977	0.0:0.0:0.0:1.0	.	286	Q9P1Q5	OR1A1_HUMAN	S	286	ENSP00000305207:F286S	ENSP00000305207:F286S	F	+	2	0	OR1A1	3066521	0.997000	0.39634	1.000000	0.80357	0.821000	0.46438	7.231000	0.78106	2.126000	0.65437	0.418000	0.28097	TTC		0.468	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565	
SLC35G3	146861	broad.mit.edu	37	17	33521101	33521101	+	Nonsense_Mutation	SNP	G	G	A	rs139668128	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:33521101G>A	ENST00000297307.5	-	1	311	c.226C>T	c.(226-228)Cga>Tga	p.R76*	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	76	EamA 1.					integral component of membrane (GO:0016021)		p.R76*(1)									AAGAGGCATCGCCAGATGAGC	0.632																																					p.R76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C226T	17						.	G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	149.0	150.0	149.0		226		0.4	17	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	SLC35G3	NM_152462.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		76/339	33521101	3,13003	2203	4300	6503	30545214	SO:0001587	stop_gained	146861	exon1			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.226C>T	17.37:g.33521101G>A	ENSP00000297307:p.Arg76*		30545214	NM_152462	B9EGE9	Nonsense_Mutation	SNP	ENST00000297307.5	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708233	0.48412	4.54E-4	1.16E-4	ENSG00000164729	ENST00000297307	.	.	.	.	.	.	.	0.000000	0.38436	N	0.001694	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0016	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	.	.	.	X	76	.	ENSP00000297307:R76X	R	-	1	2	SLC35G3	30545214	1.000000	0.71417	0.387000	0.26183	0.389000	0.30415	4.233000	0.58651	0.064000	0.16427	0.064000	0.15345	CGA		0.632	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462	
CCL23	6368	broad.mit.edu	37	17	34340260	34340260	+	Missense_Mutation	SNP	G	G	A	rs202213083		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:34340260G>A	ENST00000591423.1	-	4	404	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	RP11-104J23.1_ENST00000590192.1_RNA|RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA|CCL23_ENST00000293280.2_Missense_Mutation_p.R131W	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	114					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)	p.R131W(1)		large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTTGATCCGTGTGTCCAGC	0.473																																					p.R114W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340T	17						.						109.0	90.0	96.0					17																	34340260		2203	4300	6503	31364373	SO:0001583	missense	6368	exon4			U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.340C>T	17.37:g.34340260G>A	ENSP00000465954:p.Arg114Trp		31364373	NM_145898	B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	CCDS59282.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649437	0.29336	.	.	ENSG00000167236	ENST00000293280	T	0.04015	3.73	2.28	-4.55	0.03441	.	5.327680	0.01339	N	0.011510	T	0.06826	0.0174	N	0.14661	0.345	0.09310	N	1	D;D	0.76494	0.999;0.999	P;D	0.64877	0.793;0.93	T	0.22836	-1.0205	10	0.72032	D	0.01	.	0.7237	0.00945	0.1656:0.3216:0.1715:0.3413	.	114;131	P55773;P55773-2	CCL23_HUMAN;.	W	131	ENSP00000293280:R131W	ENSP00000293280:R131W	R	-	1	2	CCL23	31364373	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.160000	0.00078	-1.560000	0.01686	-1.291000	0.01355	CGG		0.473	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898	
CCL18	6362	broad.mit.edu	37	17	34398330	34398330	+	Missense_Mutation	SNP	C	C	T	rs540060026		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:34398330C>T	ENST00000004921.3	+	3	262	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000588864.1_RNA	NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	67					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to biotic stimulus (GO:0009607)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.R67W(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAAGAGAGGCCGGCAGATCTG	0.562																																					p.R67W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C199T	17						.						80.0	79.0	79.0					17																	34398330		2203	4300	6503	31422443	SO:0001583	missense	6362	exon3			Y13710	CCDS11306.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000006074	ENSG00000275385		"""Chemokine ligands"""	10616	protein-coding gene	gene with protein product		603757	"""small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated"""	SCYA18		9233607, 10049593	Standard	NM_002988		Approved	DC-CK1, PARC, AMAC-1, DCCK1, MIP-4, CKb7	uc002hku.3	P55774	OTTHUMG00000188410	ENST00000004921.3:c.199C>T	17.37:g.34398330C>T	ENSP00000004921:p.Arg67Trp		31422443	NM_002988	B5BUM2|Q53X71	Missense_Mutation	SNP	ENST00000004921.3	37	CCDS11306.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.340058	0.24339	.	.	ENSG00000006074	ENST00000004921	T	0.07327	3.2	4.44	-2.69	0.06022	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.204155	0.31747	N	0.007132	T	0.17746	0.0426	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04781	-1.0927	9	0.87932	D	0	.	4.3494	0.11148	0.1612:0.3439:0.0:0.4949	.	67	P55774	CCL18_HUMAN	W	67	ENSP00000004921:R67W	ENSP00000004921:R67W	R	+	1	2	CCL18	31422443	0.005000	0.15991	0.002000	0.10522	0.014000	0.08584	0.030000	0.13688	-0.584000	0.05913	-0.229000	0.12294	CGG		0.562	CCL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256583.1	NM_002988	
MRM1	79922	broad.mit.edu	37	17	34964687	34964687	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:34964687C>A	ENST00000585770.1	+	5	571	c.313C>A	c.(313-315)Ctt>Att	p.L105I	MRM1_ENST00000250156.7_Missense_Mutation_p.L300I					mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)									p.L300I(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AGGAATTCTTCTTCACTCCAT	0.537																																					p.L300I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C898A	17						.						164.0	169.0	168.0					17																	34964687		2203	4300	6503	32038800	SO:0001583	missense	79922	exon5			AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619			26202	protein-coding gene	gene with protein product						24036117	Standard	NM_024864		Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.313C>A	17.37:g.34964687C>A	ENSP00000465317:p.Leu105Ile		32038800	NM_024864		Missense_Mutation	SNP	ENST00000585770.1	37		.	.	.	.	.	.	.	.	.	.	C	18.26	3.584443	0.65992	.	.	ENSG00000129282	ENST00000250156	T	0.52526	0.66	5.49	5.49	0.81192	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.64402	D	0.000002	T	0.61236	0.2331	M	0.74546	2.27	0.47905	D	0.999547	P	0.37500	0.597	P	0.51742	0.678	T	0.59478	-0.7447	10	0.36615	T	0.2	-11.4713	11.6105	0.51057	0.0:0.9171:0.0:0.0829	.	300	Q6IN84	MRM1_HUMAN	I	300	ENSP00000250156:L300I	ENSP00000250156:L300I	L	+	1	0	MRM1	32038800	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.010000	0.40913	2.584000	0.87258	0.563000	0.77884	CTT		0.537	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000451392.1	NM_024864	
ACACA	31	broad.mit.edu	37	17	35545329	35545329	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:35545329C>T	ENST00000394406.2	-	39	4743	c.4553G>A	c.(4552-4554)cGc>cAc	p.R1518H	ACACA_ENST00000335166.5_Missense_Mutation_p.R1440H|ACACA_ENST00000360679.3_Missense_Mutation_p.R1460H|ACACA_ENST00000353139.5_Missense_Mutation_p.R1555H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1518					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.R1460H(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)	TGGCGTCAGGCGAATGTTGAT	0.502																																					p.R1555H	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4664A	17						.						204.0	179.0	187.0					17																	35545329		2203	4300	6503	32619442	SO:0001583	missense	31	exon39			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.4553G>A	17.37:g.35545329C>T	ENSP00000377928:p.Arg1518His		32619442	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237717	0.95240	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.49	5.49	0.81192	Acetyl-CoA carboxylase, central domain (1);	0.117279	0.64402	D	0.000019	T	0.73442	0.3587	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.981;1.0;0.985;0.975	T	0.76152	-0.3064	10	0.52906	T	0.07	-9.4649	18.9743	0.92730	0.0:1.0:0.0:0.0	.	266;1555;1518;1460	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	H	1555;1460;1518;1542;1440;266	ENSP00000344789:R1555H;ENSP00000353898:R1460H;ENSP00000377928:R1518H;ENSP00000335323:R1440H	ENSP00000335323:R1440H	R	-	2	0	ACACA	32619442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.559000	0.86315	0.655000	0.94253	CGC		0.502	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
ACACA	31	broad.mit.edu	37	17	35640230	35640230	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:35640230C>T	ENST00000394406.2	-	5	627	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	ACACA_ENST00000335166.5_Missense_Mutation_p.R68Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R88Q|ACACA_ENST00000353139.5_Missense_Mutation_p.R183Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	146	Biotin carboxylation.				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.R88Q(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)	ACGTTCATTTCGAAACATTTC	0.433																																					p.R183Q	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G548A	17						.						159.0	127.0	137.0					17																	35640230		2203	4300	6503	32714343	SO:0001583	missense	31	exon5			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.437G>A	17.37:g.35640230C>T	ENSP00000377928:p.Arg146Gln		32714343	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661762	0.96734	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.84	5.84	0.93424	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.992	D;P;P	0.76071	0.987;0.85;0.784	D	0.83637	0.0148	10	0.56958	D	0.05	-8.14	20.1535	0.98095	0.0:1.0:0.0:0.0	.	183;146;88	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	Q	183;88;146;170;68;68	ENSP00000344789:R183Q;ENSP00000353898:R88Q;ENSP00000377928:R146Q;ENSP00000335323:R68Q	ENSP00000335323:R68Q	R	-	2	0	ACACA	32714343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	CGA		0.433	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
GPR179	440435	broad.mit.edu	37	17	36482489	36482489	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:36482489C>T	ENST00000342292.4	-	11	6983	c.6963G>A	c.(6961-6963)agG>agA	p.R2321R	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2321					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2321R(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)				CTAAGCTGGTCCTTGGCTCAA	0.517																																					p.R2321R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6963A	17						.						165.0	155.0	158.0					17																	36482489		1944	4137	6081	33736015	SO:0001819	synonymous_variant	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.6963G>A	17.37:g.36482489C>T			33736015	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																				0.517	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
GPR179	440435	broad.mit.edu	37	17	36485221	36485221	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:36485221T>C	ENST00000342292.4	-	11	4251	c.4231A>G	c.(4231-4233)Aaa>Gaa	p.K1411E	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1411					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K1411E(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)				AAGGTTGCTTTCCTGGTTTTC	0.542																																					p.K1411E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4231G	17						.						94.0	99.0	97.0					17																	36485221		1917	4127	6044	33738747	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.4231A>G	17.37:g.36485221T>C	ENSP00000345060:p.Lys1411Glu		33738747	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.299127	0.40694	.	.	ENSG00000188888	ENST00000342292	T	0.55760	0.5	4.86	4.86	0.63082	.	0.000000	0.45606	D	0.000341	T	0.64091	0.2567	L	0.59436	1.845	0.30105	N	0.807057	D	0.76494	0.999	D	0.72338	0.977	T	0.64841	-0.6312	10	0.87932	D	0	-19.6771	7.1493	0.25601	0.0:0.0979:0.0:0.9021	.	1411	Q6PRD1	GP179_HUMAN	E	1411	ENSP00000345060:K1411E	ENSP00000345060:K1411E	K	-	1	0	GPR179	33738747	0.003000	0.15002	0.980000	0.43619	0.115000	0.19883	1.004000	0.29822	2.041000	0.60428	0.374000	0.22700	AAA		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
PCGF2	7703	broad.mit.edu	37	17	36895359	36895359	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:36895359C>T	ENST00000580830.1	-	7	979	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	PCGF2_ENST00000581345.1_Missense_Mutation_p.R93Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.R93Q|PCGF2_ENST00000579882.1_Missense_Mutation_p.R93Q|PCGF2_ENST00000585100.1_Missense_Mutation_p.R93Q|PCGF2_ENST00000578109.1_Missense_Mutation_p.R39Q			P35227	PCGF2_HUMAN	polycomb group ring finger 2	93					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R93Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ATCCCGCCGCCGTTTCATCTC	0.547																																					p.R93Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278A	17						.						114.0	111.0	112.0					17																	36895359		2203	4300	6503	34148885	SO:0001583	missense	7703	exon6			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.278G>A	17.37:g.36895359C>T	ENSP00000461961:p.Arg93Gln		34148885	NM_007144	A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887400	0.33348	.	.	ENSG00000056661	ENST00000360797	T	0.37058	1.22	4.83	2.84	0.33178	.	0.390559	0.26092	N	0.026384	T	0.27798	0.0684	M	0.64567	1.98	0.42783	D	0.99387	P	0.42757	0.789	B	0.29942	0.109	T	0.08086	-1.0739	10	0.34782	T	0.22	-2.4938	10.1003	0.42499	0.0:0.835:0.0:0.165	.	93	P35227	PCGF2_HUMAN	Q	93	ENSP00000354033:R93Q	ENSP00000354033:R93Q	R	-	2	0	PCGF2	34148885	1.000000	0.71417	0.116000	0.21606	0.449000	0.32228	7.496000	0.81526	0.634000	0.30469	0.462000	0.41574	CGG		0.547	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144	
MED1	5469	broad.mit.edu	37	17	37566417	37566417	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:37566417T>G	ENST00000300651.6	-	17	2280	c.2057A>C	c.(2056-2058)aAg>aCg	p.K686T	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.K686T(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)		TTTCTTGGTCTTGTTGCTCCC	0.473										HNSCC(31;0.082)																											p.K686T	Pancreas(21;279 768 2492 4877 24026)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2057C	17						.						112.0	117.0	116.0					17																	37566417		2203	4300	6503	34819943	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.2057A>C	17.37:g.37566417T>G	ENSP00000300651:p.Lys686Thr		34819943	NM_004774	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	8.952	0.968533	0.18659	.	.	ENSG00000125686	ENST00000300651	T	0.50001	0.76	5.59	5.59	0.84812	.	.	.	.	.	T	0.31765	0.0807	N	0.14661	0.345	0.39170	D	0.962575	B	0.06786	0.001	B	0.04013	0.001	T	0.16100	-1.0414	9	0.18276	T	0.48	-3.846	15.7674	0.78138	0.0:0.0:0.0:1.0	.	686	Q15648	MED1_HUMAN	T	686	ENSP00000300651:K686T	ENSP00000300651:K686T	K	-	2	0	MED1	34819943	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.368000	0.52357	2.124000	0.65301	0.459000	0.35465	AAG		0.473	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774	
CDK12	51755	broad.mit.edu	37	17	37667784	37667784	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:37667784G>A	ENST00000447079.4	+	8	2702	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	CDK12_ENST00000430627.2_Missense_Mutation_p.R890H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	890	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.R890H(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TATTTCAGTCGCCCTTACACA	0.393			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																											p.R890H			Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2669A	17						.						92.0	92.0	92.0					17																	37667784		2203	4300	6503	34921310	SO:0001583	missense	51755	exon8			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2669G>A	17.37:g.37667784G>A	ENSP00000398880:p.Arg890His		34921310	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434094	0.83776	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.65916	-0.18;-0.18	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	0.45126	D	0.000382	T	0.75110	0.3805	L	0.46741	1.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.76761	-0.2840	10	0.62326	D	0.03	-7.084	18.8066	0.92040	0.0:0.0:1.0:0.0	.	889;890;890	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	890	ENSP00000407720:R890H;ENSP00000398880:R890H	ENSP00000407720:R890H	R	+	2	0	CDK12	34921310	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.686000	0.98664	2.521000	0.84997	0.555000	0.69702	CGC		0.393	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
MIEN1	84299	broad.mit.edu	37	17	37885842	37885842	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:37885842C>T	ENST00000394231.3	-	4	572	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000577810.1_3'UTR|MIEN1_ENST00000474210.1_5'UTR			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	94					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)	p.R94Q(1)|p.R94L(1)									ACTGGCTCTTCGGATGGCCTC	0.522																																					p.R94Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G281A	17						.						223.0	207.0	212.0					17																	37885842		2203	4300	6503	35139368	SO:0001583	missense	84299	exon4			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.281G>A	17.37:g.37885842C>T	ENSP00000377778:p.Arg94Gln		35139368	NM_032339		Missense_Mutation	SNP	ENST00000394231.3	37	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235387	0.58886	.	.	ENSG00000141741	ENST00000394231	T	0.50001	0.76	5.8	5.8	0.92144	.	0.082667	0.51477	D	0.000098	T	0.35248	0.0925	L	0.28504	0.86	0.80722	D	1	P	0.34800	0.469	B	0.21360	0.034	T	0.10894	-1.0610	10	0.31617	T	0.26	-22.8269	18.8259	0.92119	0.0:1.0:0.0:0.0	.	94	Q9BRT3	MIEN1_HUMAN	Q	94	ENSP00000377778:R94Q	ENSP00000377778:R94Q	R	-	2	0	C17orf37	35139368	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.888000	0.63164	2.746000	0.94184	0.591000	0.81541	CGA		0.522	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3	NM_032339	
GSDMB	55876	broad.mit.edu	37	17	38062156	38062156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:38062156C>T	ENST00000394179.1	-	8	1086	c.956G>A	c.(955-957)gGg>gAg	p.G319E	GSDMB_ENST00000418519.1_Missense_Mutation_p.G324E|GSDMB_ENST00000520542.1_Missense_Mutation_p.G315E|GSDMB_ENST00000309481.7_Missense_Mutation_p.G311E|GSDMB_ENST00000394175.2_Missense_Mutation_p.G302E|GSDMB_ENST00000360317.3_Missense_Mutation_p.G324E			Q8TAX9	GSDMB_HUMAN	gasdermin B	319						cytoplasm (GO:0005737)		p.G302E(1)|p.G324E(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TACCAAGACCCCAGCAGCATT	0.562																																					p.G311E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G932A	17						.						99.0	101.0	100.0					17																	38062156		2203	4300	6503	35315682	SO:0001583	missense	55876	exon8			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.956G>A	17.37:g.38062156C>T	ENSP00000377733:p.Gly319Glu		35315682	NM_001042471	B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.289888|2.289888	0.40494|0.40494	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179|ENST00000420491	T;T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98;1.98|.	3.85|3.85	1.76|1.76	0.24704|0.24704	.|.	0.358324|0.358324	0.23589|0.23589	N|N	0.046570|0.046570	T|T	0.35068|0.35068	0.0919|0.0919	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.964;0.999;0.964;0.964|.	D;P;D;P;P|.	0.80764|.	0.994;0.64;0.977;0.64;0.64|.	T|T	0.21793|0.21793	-1.0235|-1.0235	10|7	0.23302|0.62326	T|D	0.38|0.03	.|.	5.3672|5.3672	0.16121|0.16121	0.0:0.6784:0.2064:0.1152|0.0:0.6784:0.2064:0.1152	.|.	315;324;319;311;302|.	B4DKK7;Q8TAX9-4;Q8TAX9;Q8TAX9-3;Q8TAX9-2|.	.;.;GSDMB_HUMAN;.;.|.	E|R	319;302;311;315;324;319|256	ENSP00000377729:G302E;ENSP00000312584:G311E;ENSP00000430157:G315E;ENSP00000415049:G324E;ENSP00000377733:G319E|.	ENSP00000312584:G311E|ENSP00000400296:G256R	G|G	-|-	2|1	0|0	GSDMB|GSDMB	35315682|35315682	0.721000|0.721000	0.28007|0.28007	0.029000|0.029000	0.17559|0.17559	0.196000|0.196000	0.23810|0.23810	0.973000|0.973000	0.29422|0.29422	0.384000|0.384000	0.24942|0.24942	0.609000|0.609000	0.83330|0.83330	GGG|GGG		0.562	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530	
GSDMB	55876	broad.mit.edu	37	17	38068637	38068637	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:38068637T>G	ENST00000394179.1	-	3	479	c.349A>C	c.(349-351)Aaa>Caa	p.K117Q	GSDMB_ENST00000418519.1_Missense_Mutation_p.K117Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.K117Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.K117Q|GSDMB_ENST00000394175.2_Missense_Mutation_p.K117Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.K117Q			Q8TAX9	GSDMB_HUMAN	gasdermin B	117						cytoplasm (GO:0005737)		p.K117Q(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ATCTTGATTTTCTGATGGTGG	0.463																																					p.K117Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A349C	17						.						144.0	138.0	140.0					17																	38068637		2203	4300	6503	35322163	SO:0001583	missense	55876	exon3			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.349A>C	17.37:g.38068637T>G	ENSP00000377733:p.Lys117Gln		35322163	NM_001042471	B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.798|2.798	-0.249710|-0.249710	0.05867|0.05867	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179|ENST00000420491	T;T;T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93;1.93;1.93|.	3.33|3.33	-2.8|-2.8	0.05823|0.05823	.|.	1.808320|.	0.02894|.	N|.	0.134539|.	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;P;P|.	0.43701|.	0.02;0.007;0.815;0.815|.	B;B;B;B|.	0.33620|.	0.016;0.006;0.167;0.167|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|5	0.16896|.	T|.	0.51|.	.|.	8.814|8.814	0.34985|0.34985	0.0:0.5431:0.0:0.4569|0.0:0.5431:0.0:0.4569	.|.	117;117;117;117|.	B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2|.	.;.;.;.|.	Q|S	117|48	ENSP00000353465:K117Q;ENSP00000377729:K117Q;ENSP00000312584:K117Q;ENSP00000430157:K117Q;ENSP00000415049:K117Q;ENSP00000377733:K117Q|.	ENSP00000312584:K117Q|.	K|R	-|-	1|3	0|2	GSDMB|GSDMB	35322163|35322163	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.833000|-0.833000	0.04396|0.04396	-0.711000|-0.711000	0.04995|0.04995	0.421000|0.421000	0.28195|0.28195	AAA|AGA		0.463	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530	
GSDMA	284110	broad.mit.edu	37	17	38127809	38127809	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:38127809C>T	ENST00000301659.4	+	5	709	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	197					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)		p.I197I(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTGTAACCATCCCCAAGGGCT	0.483																																					p.I197I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591T	17						.						64.0	63.0	63.0					17																	38127809		1965	4162	6127	35381335	SO:0001819	synonymous_variant	284110	exon5			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.591C>T	17.37:g.38127809C>T			35381335	NM_178171	Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	CCDS45669.1																																																																																				0.483	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171	
GSG2	83903	broad.mit.edu	37	17	3628554	3628554	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:3628554A>T	ENST00000325418.4	+	1	1344	c.1325A>T	c.(1324-1326)tAt>tTt	p.Y442F	ITGAE_ENST00000571185.1_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	442					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)	p.Y442F(1)									TCCTCTATGTATTTGCTAAGC	0.468																																					p.Y442F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1325T	17						.						106.0	103.0	104.0					17																	3628554		2203	4300	6503	3575303	SO:0001583	missense	83903	exon1			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1325A>T	17.37:g.3628554A>T	ENSP00000325290:p.Tyr442Phe		3575303	NM_031965	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786400	0.31593	.	.	ENSG00000177602	ENST00000325418	T	0.06449	3.3	4.61	3.42	0.39159	.	0.647806	0.12906	N	0.429342	T	0.04407	0.0121	N	0.24115	0.695	0.24673	N	0.993407	P	0.41673	0.759	B	0.37943	0.261	T	0.33471	-0.9867	10	0.87932	D	0	-18.5064	4.8391	0.13481	0.6249:0.1769:0.0:0.1982	.	442	Q8TF76	HASP_HUMAN	F	442	ENSP00000325290:Y442F	ENSP00000325290:Y442F	Y	+	2	0	GSG2	3575303	0.655000	0.27376	1.000000	0.80357	0.530000	0.34684	1.382000	0.34374	2.021000	0.59480	0.533000	0.62120	TAT		0.468	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965	
RAPGEFL1	51195	broad.mit.edu	37	17	38340595	38340595	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:38340595C>A	ENST00000456989.2	+	3	322	c.276C>A	c.(274-276)atC>atA	p.I92I	RAPGEFL1_ENST00000544503.1_Silent_p.I86I|RAPGEFL1_ENST00000264644.6_Silent_p.I37I|RAPGEFL1_ENST00000436615.3_Silent_p.I37I|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	243	Gly-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I37I(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGGCCACATCATCAAGGTGG	0.582																																					p.I37I	Esophageal Squamous(28;274 750 6870 14218 42203)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111A	17						.						51.0	60.0	57.0					17																	38340595		2202	4300	6502	35594121	SO:0001819	synonymous_variant	51195	exon3			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.276C>A	17.37:g.38340595C>A			35594121	NM_016339		Silent	SNP	ENST00000456989.2	37																																																																																					0.582	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339	
ITGAE	3682	broad.mit.edu	37	17	3651268	3651268	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:3651268C>T	ENST00000263087.4	-	17	2201	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	701					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.V701V(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)		AACGGACATTCACGACGCCGT	0.537																																					p.V701V	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2103A	17						.						83.0	76.0	79.0					17																	3651268		2203	4300	6503	3598017	SO:0001819	synonymous_variant	3682	exon17			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.2103G>A	17.37:g.3651268C>T			3598017	NM_002208	Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.537	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
ITGAE	3682	broad.mit.edu	37	17	3654948	3654948	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:3654948G>A	ENST00000263087.4	-	15	1987	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	630					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.S630L(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)		GGTCACCTGCGAGGGGCTGGC	0.602																																					p.S630L	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1889T	17						.						54.0	62.0	59.0					17																	3654948		2203	4300	6503	3601697	SO:0001583	missense	3682	exon15			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.1889C>T	17.37:g.3654948G>A	ENSP00000263087:p.Ser630Leu		3601697	NM_002208	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607230	0.87157	.	.	ENSG00000083457	ENST00000263087	T	0.62498	0.02	3.14	3.14	0.36123	.	.	.	.	.	T	0.72969	0.3527	M	0.83953	2.67	0.38166	D	0.939177	D	0.69078	0.997	P	0.53760	0.734	T	0.80975	-0.1142	9	0.72032	D	0.01	.	12.5645	0.56301	0.0:0.0:1.0:0.0	.	630	P38570	ITAE_HUMAN	L	630	ENSP00000263087:S630L	ENSP00000263087:S630L	S	-	2	0	ITGAE	3601697	0.984000	0.35163	0.125000	0.21846	0.588000	0.36517	5.849000	0.69465	1.717000	0.51406	0.555000	0.69702	TCG		0.602	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
TOP2A	7153	broad.mit.edu	37	17	38548934	38548934	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:38548934C>A	ENST00000423485.1	-	30	4025	c.3867G>T	c.(3865-3867)aaG>aaT	p.K1289N	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1289					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.K1289N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GATTTCTCTTCTTTCCTTTTT	0.398																																					p.K1289N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3867T	17						.						219.0	205.0	210.0					17																	38548934		1848	4092	5940	35802460	SO:0001583	missense	7153	exon30				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3867G>T	17.37:g.38548934C>A	ENSP00000411532:p.Lys1289Asn		35802460	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484276	0.44147	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25250	1.81	5.78	1.28	0.21552	.	0.497310	0.23874	N	0.043719	T	0.17023	0.0409	L	0.38175	1.15	0.47819	D	0.999527	B	0.02656	0.0	B	0.08055	0.003	T	0.05852	-1.0860	10	0.48119	T	0.1	.	6.2578	0.20884	0.1183:0.6173:0.0:0.2644	.	1289	P11388	TOP2A_HUMAN	N	1289;1369;1312;1325	ENSP00000411532:K1289N	ENSP00000269577:K1369N	K	-	3	2	TOP2A	35802460	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	0.694000	0.25512	0.453000	0.26858	0.655000	0.94253	AAG		0.398	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
KRT34	3885	broad.mit.edu	37	17	39537408	39537408	+	Missense_Mutation	SNP	C	C	T	rs369876817		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:39537408C>T	ENST00000394001.1	-	3	644	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	205	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.R205H(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)				CAGGATCCTGCGTATGCTGTT	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		21912	0.0		0.001	False		,,,				2504	0.0				p.R205H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G614A	17						.	C	HIS/ARG	0,4406		0,0,2203	154.0	128.0	137.0		614	5.5	1.0	17		137	2,8598	2.2+/-6.3	0,2,4298	no	missense	KRT34	NM_021013.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	205/437	39537408	2,13004	2203	4300	6503	36790934	SO:0001583	missense	3885	exon3			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.614G>A	17.37:g.39537408C>T	ENSP00000377570:p.Arg205His		36790934	NM_021013	Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	17.22	3.333519	0.60853	0.0	2.33E-4	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.52	5.52	0.82312	Filament (1);	0.000000	0.64402	D	0.000003	T	0.63379	0.2506	L	0.61036	1.89	0.39962	D	0.974674	P	0.45715	0.865	P	0.45406	0.479	T	0.69540	-0.5118	9	0.72032	D	0.01	.	18.419	0.90582	0.0:1.0:0.0:0.0	.	205	O76011	KRT34_HUMAN	H	163;205	.	ENSP00000251648:R205H	R	-	2	0	KRT34	36790934	0.975000	0.34042	1.000000	0.80357	0.582000	0.36321	2.578000	0.46051	2.606000	0.88127	0.655000	0.94253	CGC		0.562	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013	
KRT31	3881	broad.mit.edu	37	17	39551785	39551785	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:39551785C>T	ENST00000251645.2	-	4	731	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	227	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.E227K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCTGGTCTCGTTCAGCACC	0.597																																					p.E227K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679A	17						.						102.0	90.0	94.0					17																	39551785		2203	4300	6503	36805311	SO:0001583	missense	3881	exon4			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.679G>A	17.37:g.39551785C>T	ENSP00000251645:p.Glu227Lys		36805311	NM_002277	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	11.93	1.784286	0.31593	.	.	ENSG00000094796	ENST00000251645	D	0.92199	-2.99	5.4	4.43	0.53597	Filament (1);	0.090232	0.48286	D	0.000181	D	0.90985	0.7165	M	0.81942	2.565	0.34577	D	0.714004	P	0.35363	0.497	B	0.26202	0.067	D	0.93586	0.6917	10	0.66056	D	0.02	.	15.3679	0.74538	0.0:0.8602:0.1398:0.0	.	227	Q15323	K1H1_HUMAN	K	227	ENSP00000251645:E227K	ENSP00000251645:E227K	E	-	1	0	KRT31	36805311	0.793000	0.28825	0.895000	0.35142	0.154000	0.21943	1.711000	0.37930	1.263000	0.44181	-0.257000	0.10917	GAG		0.597	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277	
KRT13	3860	broad.mit.edu	37	17	39659576	39659576	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:39659576T>G	ENST00000246635.3	-	3	744	c.698A>C	c.(697-699)aAt>aCt	p.N233T	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.N233T|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.N233T	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	233	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.N233T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TAGCTCTTCATTCAGGCTCTC	0.587																																					p.N233T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A698C	17						.						131.0	130.0	130.0					17																	39659576		2203	4300	6503	36913102	SO:0001583	missense	3860	exon3				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.698A>C	17.37:g.39659576T>G	ENSP00000246635:p.Asn233Thr		36913102	NM_153490	Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	T	7.293	0.611487	0.14066	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.78595	-1.19;-1.19	4.29	3.17	0.36434	Filament (1);	0.318263	0.21930	N	0.067040	T	0.59018	0.2163	N	0.13098	0.295	0.19575	N	0.999963	B;B;B;B	0.13145	0.002;0.007;0.002;0.007	B;B;B;B	0.16289	0.009;0.015;0.009;0.015	T	0.51140	-0.8743	10	0.49607	T	0.09	.	7.2175	0.25967	0.0:0.0798:0.1466:0.7735	.	221;233;233;233	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	T	233;233;221	ENSP00000246635:N233T;ENSP00000336604:N233T	ENSP00000157775:N221T	N	-	2	0	KRT13	36913102	0.000000	0.05858	0.756000	0.31282	0.826000	0.46750	-0.344000	0.07780	0.764000	0.33197	0.459000	0.35465	AAT		0.587	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
KRT16	3868	broad.mit.edu	37	17	39767948	39767948	+	Missense_Mutation	SNP	G	G	A	rs547733077		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:39767948G>A	ENST00000301653.4	-	2	621	c.557C>T	c.(556-558)gCg>gTg	p.A186V		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	186	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A186V(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AATGGGCTGCGCATTCTCAAT	0.582													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20400	0.0		0.0	False		,,,				2504	0.0				p.A186V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557T	17						.						29.0	27.0	28.0					17																	39767948		2203	4297	6500	37021474	SO:0001583	missense	3868	exon2			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.557C>T	17.37:g.39767948G>A	ENSP00000301653:p.Ala186Val		37021474	NM_005557	A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583296	0.65992	.	.	ENSG00000186832	ENST00000301653	D	0.90197	-2.63	5.47	5.47	0.80525	Filament (1);	0.000000	0.51477	D	0.000100	D	0.90625	0.7060	M	0.82517	2.595	0.37586	D	0.919981	P	0.37708	0.606	B	0.34180	0.177	D	0.92909	0.6346	10	0.66056	D	0.02	.	15.2388	0.73452	0.0:0.0:0.859:0.141	.	186	P08779	K1C16_HUMAN	V	186	ENSP00000301653:A186V	ENSP00000301653:A186V	A	-	2	0	KRT16	37021474	0.002000	0.14202	0.354000	0.25760	0.219000	0.24729	1.067000	0.30616	2.724000	0.93272	0.561000	0.74099	GCG		0.582	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
CNTNAP1	8506	broad.mit.edu	37	17	40843526	40843526	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:40843526G>A	ENST00000264638.4	+	15	2558	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	781	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.D781N(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGCTATGGCGATCGTGAGTG	0.572																																					p.D781N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2341A	17						.						104.0	95.0	98.0					17																	40843526		2203	4300	6503	38097052	SO:0001583	missense	8506	exon15			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2341G>A	17.37:g.40843526G>A	ENSP00000264638:p.Asp781Asn		38097052	NM_003632		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265904	0.95399	.	.	ENSG00000108797	ENST00000264638	T	0.22336	1.96	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.84082	2.675	0.80722	D	1	P	0.52692	0.955	P	0.53518	0.728	T	0.27673	-1.0067	10	0.39692	T	0.17	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	781	P78357	CNTP1_HUMAN	N	781	ENSP00000264638:D781N	ENSP00000264638:D781N	D	+	1	0	CNTNAP1	38097052	1.000000	0.71417	0.978000	0.43139	0.780000	0.44128	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAT		0.572	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
ZZEF1	23140	broad.mit.edu	37	17	4009011	4009011	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:4009011T>C	ENST00000381638.2	-	7	1494	c.1370A>G	c.(1369-1371)gAc>gGc	p.D457G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	457							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.D457G(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						GAGGAAACTGTCCACTTCTTC	0.443																																					p.D457G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1370G	17						.						114.0	111.0	112.0					17																	4009011		2203	4300	6503	3955760	SO:0001583	missense	23140	exon7			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.1370A>G	17.37:g.4009011T>C	ENSP00000371051:p.Asp457Gly		3955760	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941125	0.92526	.	.	ENSG00000074755	ENST00000381638	T	0.40756	1.02	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.56968	0.978;0.963	P;P	0.51415	0.669;0.468	T	0.44892	-0.9298	10	0.87932	D	0	-23.8494	16.1396	0.81513	0.0:0.0:0.0:1.0	.	457;457	O43149-3;O43149	.;ZZEF1_HUMAN	G	457	ENSP00000371051:D457G	ENSP00000371051:D457G	D	-	2	0	ZZEF1	3955760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.679000	0.84048	2.288000	0.76882	0.528000	0.53228	GAC		0.443	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
BRCA1	672	broad.mit.edu	37	17	41226515	41226515	+	Nonsense_Mutation	SNP	G	G	T	rs80357437		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:41226515G>T	ENST00000357654.3	-	14	4626	c.4508C>A	c.(4507-4509)tCa>tAa	p.S1503*	BRCA1_ENST00000351666.3_Nonsense_Mutation_p.S320*|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.S1207*|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.S399*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.S361*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.S1456*|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.S399*|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591534.1_5'UTR|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.S1524*|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1503					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|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)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1503*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATCATCTAATGATGGGCATTT	0.443			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.S1503X		yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4508A	17	GRCh37	CM062470	BRCA1	M	rs80357437	.						70.0	72.0	71.0					17																	41226515		2203	4300	6503	38480041	SO:0001587	stop_gained	672	exon14	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4508C>A	17.37:g.41226515G>T	ENSP00000350283:p.Ser1503*		38480041	NM_007294	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374491	0.82573	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	.	.	.	5.19	3.0	0.34707	.	0.843192	0.09935	N	0.736687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	6.2866	0.21037	0.7997:0.0:0.2003:0.0	.	.	.	.	X	1503;1524;361;320;1207;399;352;1525;1456;398;399;274;353	.	ENSP00000310938:S1207X	S	-	2	0	BRCA1	38480041	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.693000	0.37742	0.457000	0.26962	-0.312000	0.09012	TCA		0.443	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
DBF4B	80174	broad.mit.edu	37	17	42818751	42818751	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:42818751C>A	ENST00000315005.3	+	10	899	c.761C>A	c.(760-762)tCt>tAt	p.S254Y	DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.S254Y	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	254					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.S254Y(2)|p.S254F(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTGAAATTTCTTTTCTTGGA	0.483																																					p.S254Y												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C761A	17						.						131.0	127.0	128.0					17																	42818751		2203	4300	6503	40174277	SO:0001583	missense	80174	exon10			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.761C>A	17.37:g.42818751C>A	ENSP00000323663:p.Ser254Tyr		40174277	NM_025104	D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865016	0.51482	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	T;T	0.13307	2.6;2.6	5.58	3.49	0.39957	.	0.419888	0.21739	N	0.069860	T	0.26122	0.0637	L	0.45581	1.43	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.74023	0.971;0.97;0.982	T	0.00263	-1.1866	10	0.52906	T	0.07	-22.6945	9.7074	0.40225	0.1546:0.6949:0.1504:0.0	.	254;254;68	Q8NFT6-2;Q8NFT6;Q8NFT6-3	.;DBF4B_HUMAN;.	Y	254	ENSP00000377178:S254Y;ENSP00000323663:S254Y	ENSP00000323663:S254Y	S	+	2	0	DBF4B	40174277	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.588000	0.23924	2.622000	0.88805	0.655000	0.94253	TCT		0.483	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104	
CDC27	996	broad.mit.edu	37	17	45249317	45249317	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:45249317A>G	ENST00000066544.3	-	3	310	c.217T>C	c.(217-219)Tac>Cac	p.Y73H	CDC27_ENST00000531206.1_Missense_Mutation_p.Y73H|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Intron|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Missense_Mutation_p.Y73H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	73					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.Y73H(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GCAAGCAGGTATTTGCATTGC	0.348																																					p.Y73H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T217C	17						.						41.0	41.0	41.0					17																	45249317		2202	4300	6502	42604316	SO:0001583	missense	996	exon3			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.217T>C	17.37:g.45249317A>G	ENSP00000066544:p.Tyr73His		42604316	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370235	0.82573	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.69	4.6	0.57074	Tetratricopeptide-like helical (1);	0.125473	0.56097	N	0.000034	D	0.82637	0.5080	M	0.77103	2.36	0.80722	D	1	D;D;D	0.62365	0.975;0.989;0.991	P;P;P	0.60345	0.814;0.861;0.873	D	0.83473	0.0060	10	0.87932	D	0	-22.1137	9.7112	0.40247	0.9176:0.0:0.0824:0.0	.	73;73;73	G5EA36;G3V1C4;P30260	.;.;CDC27_HUMAN	H	73	ENSP00000066544:Y73H;ENSP00000434614:Y73H;ENSP00000437339:Y73H;ENSP00000432105:Y73H	ENSP00000066544:Y73H	Y	-	1	0	CDC27	42604316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.306000	0.78905	0.985000	0.38656	0.482000	0.46254	TAC		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
ITGB3	3690	broad.mit.edu	37	17	45380177	45380177	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:45380177A>C	ENST00000559488.1	+	13	2121	c.2105A>C	c.(2104-2106)aAg>aCg	p.K702T	RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Missense_Mutation_p.K655T|ITGB3_ENST00000560629.1_Missense_Mutation_p.K690N|RP11-290H9.4_ENST00000576345.1_RNA	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	702					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.K702T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TCTAGTGGAAAGTCCATCCTG	0.517																																					p.K702T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2105C	17						.						98.0	87.0	91.0					17																	45380177		2203	4300	6503	42735176	SO:0001583	missense	3690	exon13				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2105A>C	17.37:g.45380177A>C	ENSP00000452786:p.Lys702Thr		42735176	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260757	0.80246	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.90444	-2.67	5.61	4.54	0.55810	Integrin beta subunit, tail (2);	0.041854	0.85682	D	0.000000	D	0.93035	0.7783	L	0.58583	1.82	0.58432	D	0.999995	D	0.52996	0.957	D	0.65573	0.936	D	0.92676	0.6154	10	0.87932	D	0	.	10.2949	0.43618	0.9215:0.0:0.0785:0.0	.	702	P05106	ITB3_HUMAN	T	702;655	ENSP00000407801:K655T	ENSP00000262017:K702T	K	+	2	0	C17orf57	42735176	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.139000	0.71728	0.976000	0.38417	0.533000	0.62120	AAG		0.517	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
EFCAB13	124989	broad.mit.edu	37	17	45452161	45452161	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:45452161C>A	ENST00000331493.2	+	12	1612	c.1201C>A	c.(1201-1203)Cat>Aat	p.H401N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.H305N	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	401						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H401N(1)									GGGTGAAATTCATGACTCAAA	0.378																																					p.H401N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1201A	17						.						62.0	64.0	63.0					17																	45452161		2203	4300	6503	42807160	SO:0001583	missense	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.1201C>A	17.37:g.45452161C>A	ENSP00000332111:p.His401Asn		42807160	NM_152347	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813833	0.50527	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.63913	0.33;-0.07	3.69	-2.42	0.06542	.	0.918607	0.09153	N	0.841333	T	0.51278	0.1665	L	0.56769	1.78	0.09310	N	1	P;P;P	0.45827	0.764;0.867;0.867	B;B;B	0.41271	0.226;0.352;0.352	T	0.46527	-0.9185	9	.	.	.	0.6818	4.0657	0.09859	0.0:0.3555:0.1838:0.4607	.	353;401;305	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	N	401;305;353	ENSP00000332111:H401N;ENSP00000430048:H305N	.	H	+	1	0	C17orf57	42807160	0.150000	0.22732	0.126000	0.21872	0.903000	0.53119	-0.457000	0.06745	-0.191000	0.10448	-0.237000	0.12165	CAT		0.378	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
NPEPPS	9520	broad.mit.edu	37	17	45662870	45662870	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:45662870T>C	ENST00000322157.4	+	6	890	c.653T>C	c.(652-654)gTa>gCa	p.V218A	NPEPPS_ENST00000530173.1_Missense_Mutation_p.V214A|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V138A	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	218					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V218A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TTAAAGAATGTAATTGACCGG	0.343																																					p.V218A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T653C	17						.						63.0	58.0	60.0					17																	45662870		1790	4064	5854	43017869	SO:0001583	missense	9520	exon6			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.653T>C	17.37:g.45662870T>C	ENSP00000320324:p.Val218Ala		43017869	NM_006310	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155746	0.57259	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.04502	3.61;3.61;3.61	5.52	5.52	0.82312	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.133862	0.49305	D	0.000145	T	0.11580	0.0282	M	0.68952	2.095	0.80722	D	1	P;B;B	0.42584	0.784;0.033;0.07	P;B;B	0.45377	0.478;0.062;0.1	T	0.00797	-1.1562	10	0.54805	T	0.06	.	15.6273	0.76870	0.0:0.0:0.0:1.0	.	218;214;218	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	A	214;218;205;138	ENSP00000433287:V214A;ENSP00000320324:V218A;ENSP00000442461:V138A	ENSP00000320324:V218A	V	+	2	0	NPEPPS	43017869	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.997000	0.88414	2.100000	0.63781	0.528000	0.53228	GTA		0.343	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310	
LRRC46	90506	broad.mit.edu	37	17	45911801	45911801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:45911801C>T	ENST00000269025.4	+	3	490	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	MRPL10_ENST00000414011.1_5'Flank|MRPL10_ENST00000351111.2_5'Flank	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	43								p.L43F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTTTCACACTCTTGATGAACT	0.522																																					p.L43F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C127T	17						.						153.0	145.0	148.0					17																	45911801		2203	4300	6503	43266800	SO:0001583	missense	90506	exon3				CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.127C>T	17.37:g.45911801C>T	ENSP00000269025:p.Leu43Phe		43266800	NM_033413	A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811255	0.32053	.	.	ENSG00000141294	ENST00000269025	T	0.27256	1.68	5.19	4.21	0.49690	.	0.119971	0.37761	N	0.001960	T	0.32912	0.0845	L	0.29908	0.895	0.38146	D	0.93858	D	0.69078	0.997	P	0.62435	0.902	T	0.13335	-1.0513	10	0.41790	T	0.15	-5.3077	11.0693	0.47993	0.1856:0.8144:0.0:0.0	.	43	Q96FV0	LRC46_HUMAN	F	43	ENSP00000269025:L43F	ENSP00000269025:L43F	L	+	1	0	LRRC46	43266800	0.045000	0.20229	0.965000	0.40720	0.956000	0.61745	0.806000	0.27126	1.156000	0.42514	0.650000	0.86243	CTT		0.522	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413	
B4GALNT2	124872	broad.mit.edu	37	17	47246889	47246889	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:47246889C>A	ENST00000300404.2	+	11	1559	c.1500C>A	c.(1498-1500)ttC>ttA	p.F500L	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.F440L|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.F414L|RP11-708H21.4_ENST00000575159.1_lincRNA	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	500					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)	p.F500L(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTGCAGAATTCTTCATTGATG	0.557																																					p.F500L	GBM(124;244 1635 8663 18097 33175)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1500A	17						.						63.0	66.0	65.0					17																	47246889		2203	4300	6503	44601888	SO:0001583	missense	124872	exon11			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1500C>A	17.37:g.47246889C>A	ENSP00000300404:p.Phe500Leu		44601888	NM_153446	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074163	0.76415	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.73152	-0.72;-0.72;-0.72	5.38	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.75264	2.295	0.40726	D	0.9827	D;D	0.67145	0.996;0.991	D;P	0.66847	0.947;0.787	T	0.75451	-0.3313	10	0.46703	T	0.11	-24.3339	5.7871	0.18338	0.0:0.5163:0.0:0.4837	.	440;500	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	L	414;440;500	ENSP00000425510:F414L;ENSP00000377022:F440L;ENSP00000300404:F500L	ENSP00000300404:F500L	F	+	3	2	B4GALNT2	44601888	0.839000	0.29477	1.000000	0.80357	0.748000	0.42578	-0.200000	0.09478	0.631000	0.30412	0.561000	0.74099	TTC		0.557	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446	
ZNF652	22834	broad.mit.edu	37	17	47395032	47395032	+	Missense_Mutation	SNP	A	A	G	rs541667081		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:47395032A>G	ENST00000362063.2	-	2	374	c.56T>C	c.(55-57)gTa>gCa	p.V19A	ZNF652_ENST00000430262.2_Missense_Mutation_p.V19A	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	19					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.V19A(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)			CATTCCTGCTACATGCACAGC	0.443													A|||	1	0.000199681	0.0	0.0	5008	,	,		21873	0.0		0.0	False		,,,				2504	0.001				p.V19A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T56C	17						.						61.0	52.0	55.0					17																	47395032		2203	4300	6503	44750031	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.56T>C	17.37:g.47395032A>G	ENSP00000354686:p.Val19Ala		44750031	NM_001145365	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	A	1.878	-0.458503	0.04508	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98455	-4.94;-4.94	5.76	-0.582	0.11709	.	0.310233	0.35262	N	0.003325	D	0.90878	0.7134	N	0.08118	0	0.29875	N	0.826535	B	0.02656	0.0	B	0.01281	0.0	D	0.83831	0.0252	10	0.32370	T	0.25	-1.0249	1.7847	0.03039	0.5391:0.1272:0.2113:0.1224	.	19	Q9Y2D9	ZN652_HUMAN	A	19	ENSP00000354686:V19A;ENSP00000416305:V19A	ENSP00000354686:V19A	V	-	2	0	ZNF652	44750031	0.798000	0.28890	0.996000	0.52242	0.993000	0.82548	0.431000	0.21444	-0.086000	0.12550	0.533000	0.62120	GTA		0.443	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897	
NXPH3	11248	broad.mit.edu	37	17	47656483	47656483	+	Missense_Mutation	SNP	G	G	A	rs370205840		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:47656483G>A	ENST00000328741.5	+	2	942	c.580G>A	c.(580-582)Gac>Aac	p.D194N	NXPH3_ENST00000513748.1_Missense_Mutation_p.D194N|RP5-1029K10.4_ENST00000503624.1_RNA	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	194	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.D194N(1)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					TTGCACCCACGACCCAGCCAA	0.587																																					p.D194N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	17						.		ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	87.0	85.0	86.0		580	4.4	1.0	17		86	0,8600		0,0,4300	no	missense	NXPH3	NM_007225.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	194/253	47656483	1,13005	2203	4300	6503	45011482	SO:0001583	missense	11248	exon2			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.580G>A	17.37:g.47656483G>A	ENSP00000329295:p.Asp194Asn		45011482	NM_007225	Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	ENST00000328741.5	37	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	g	33	5.193866	0.94960	2.27E-4	0.0	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.44	4.44	0.53790	.	0.106903	0.64402	D	0.000007	T	0.80177	0.4575	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.83654	0.0157	9	0.72032	D	0.01	-34.2112	16.8808	0.86062	0.0:0.0:1.0:0.0	.	194;194	D6RGW2;O95157	.;NXPH3_HUMAN	N	194	.	ENSP00000329295:D194N	D	+	1	0	NXPH3	45011482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.643000	0.98464	2.310000	0.77875	0.556000	0.70494	GAC		0.587	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1		
NXPH3	11248	broad.mit.edu	37	17	47656573	47656573	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:47656573G>A	ENST00000328741.5	+	2	1032	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	NXPH3_ENST00000513748.1_Missense_Mutation_p.A224T|RP5-1029K10.4_ENST00000503624.1_RNA	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	224	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.A224T(1)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					TGTCTACATCGCCTTCTACAG	0.587																																					p.A224T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670A	17						.						68.0	65.0	66.0					17																	47656573		2203	4300	6503	45011572	SO:0001583	missense	11248	exon2			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.670G>A	17.37:g.47656573G>A	ENSP00000329295:p.Ala224Thr		45011572	NM_007225	Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	ENST00000328741.5	37	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340287	0.41398	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.45	4.45	0.53987	.	0.181162	0.48767	D	0.000164	T	0.39036	0.1063	N	0.16602	0.42	0.35125	D	0.767435	P;D	0.67145	0.951;0.996	B;P	0.56916	0.442;0.809	T	0.48445	-0.9035	9	0.32370	T	0.25	-27.8296	4.275	0.10804	0.1406:0.0:0.6425:0.2169	.	224;224	D6RGW2;O95157	.;NXPH3_HUMAN	T	224	.	ENSP00000329295:A224T	A	+	1	0	NXPH3	45011572	0.993000	0.37304	0.998000	0.56505	0.940000	0.58332	1.965000	0.40471	2.314000	0.78098	0.561000	0.74099	GCC		0.587	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1		
KAT7	11143	broad.mit.edu	37	17	47875720	47875720	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:47875720G>A	ENST00000259021.4	+	4	660	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.R127Q	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	127					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R127Q(1)									TCACCGCCTCGAACTCCAACT	0.418																																					p.R127Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	17						.						88.0	76.0	80.0					17																	47875720		2203	4300	6503	45230719	SO:0001583	missense	11143	exon4			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.380G>A	17.37:g.47875720G>A	ENSP00000259021:p.Arg127Gln		45230719	NM_007067	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647162	0.87958	.	.	ENSG00000136504	ENST00000259021;ENST00000424009	.	.	.	6.14	6.14	0.99180	.	0.061134	0.64402	D	0.000004	T	0.62417	0.2426	L	0.53249	1.67	0.80722	D	1	D;D	0.62365	0.985;0.991	B;P	0.47626	0.35;0.552	T	0.58177	-0.7682	9	0.34782	T	0.22	-8.2865	20.4548	0.99139	0.0:0.0:1.0:0.0	.	127;127	O95251;G5E9K7	KAT7_HUMAN;.	Q	127	.	ENSP00000259021:R127Q	R	+	2	0	KAT7	45230719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.457000	0.60088	2.937000	0.99478	0.650000	0.86243	CGA		0.418	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067	
ITGA3	3675	broad.mit.edu	37	17	48148229	48148229	+	Missense_Mutation	SNP	G	G	A	rs140829923		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:48148229G>A	ENST00000320031.8	+	5	1016	c.686G>A	c.(685-687)cGc>cAc	p.R229H	ITGA3_ENST00000007722.7_Missense_Mutation_p.R229H|ITGA3_ENST00000544892.1_Missense_Mutation_p.R4H	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	229					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.R229H(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ATGATTCAGCGCAAGGAGTGG	0.488																																					p.R229H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	17						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	193.0	200.0	197.0		686,686	5.7	1.0	17	dbSNP_134	197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ITGA3	NM_002204.2,NM_005501.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	229/1052,229/1067	48148229	1,13005	2203	4300	6503	45503228	SO:0001583	missense	3675	exon5			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.686G>A	17.37:g.48148229G>A	ENSP00000315190:p.Arg229His		45503228	NM_002204	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643051	0.87859	0.0	1.16E-4	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.60040	0.22;0.22;0.22	5.69	5.69	0.88448	.	0.254993	0.34386	N	0.004011	T	0.68604	0.3019	L	0.52126	1.63	0.36301	D	0.857007	D;P	0.89917	1.0;0.476	D;B	0.64237	0.923;0.07	T	0.72478	-0.4281	10	0.42905	T	0.14	.	15.3058	0.73990	0.0:0.0:1.0:0.0	.	229;229	P26006-1;P26006	.;ITA3_HUMAN	H	4;229;215;229	ENSP00000446133:R4H;ENSP00000007722:R229H;ENSP00000315190:R229H	ENSP00000007722:R229H	R	+	2	0	ITGA3	45503228	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.342000	0.65970	2.682000	0.91365	0.655000	0.94253	CGC		0.488	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
ITGA3	3675	broad.mit.edu	37	17	48158724	48158724	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:48158724C>T	ENST00000320031.8	+	23	3201	c.2871C>T	c.(2869-2871)ttC>ttT	p.F957F	ITGA3_ENST00000007722.7_Silent_p.F957F	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	957					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.F957F(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTACCCTATTCCTCCGAACCA	0.542																																					p.F957F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2871T	17						.						92.0	66.0	75.0					17																	48158724		2203	4299	6502	45513723	SO:0001819	synonymous_variant	3675	exon23			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2871C>T	17.37:g.48158724C>T			45513723	NM_002204	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	CCDS11558.1																																																																																				0.542	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
ACSF2	80221	broad.mit.edu	37	17	48503634	48503634	+	Silent	SNP	C	C	T	rs573611543	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:48503634C>T	ENST00000300441.4	+	1	116	c.12C>T	c.(10-12)taC>taT	p.Y4Y	ACSF2_ENST00000541920.1_5'UTR|ACSF2_ENST00000427954.2_Silent_p.Y4Y|ACSF2_ENST00000502667.1_Silent_p.Y4Y|ACSF2_ENST00000504392.1_Silent_p.Y4Y	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	4					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.Y4Y(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGCTGTCTACGTCGGGATGC	0.731													C|||	3	0.000599042	0.0	0.0	5008	,	,		7443	0.003		0.0	False		,,,				2504	0.0				p.Y4Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12T	17						.						7.0	11.0	9.0					17																	48503634		2170	4250	6420	45858633	SO:0001819	synonymous_variant	80221	exon1			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.12C>T	17.37:g.48503634C>T			45858633	NM_025149	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	ENST00000300441.4	37	CCDS11567.1																																																																																				0.731	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149	
CHAD	1101	broad.mit.edu	37	17	48545966	48545966	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:48545966G>A	ENST00000508540.1	-	1	361	c.209C>T	c.(208-210)tCg>tTg	p.S70L	ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.S70L|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	70					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.S70L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGCCCGGAACGAATTGGCAGC	0.602																																					p.S70L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C209T	17						.						92.0	78.0	82.0					17																	48545966		2203	4300	6503	45900965	SO:0001583	missense	1101	exon1			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.209C>T	17.37:g.48545966G>A	ENSP00000423812:p.Ser70Leu		45900965	NM_001267	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836226	0.50951	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.04917	3.53;3.53	4.31	4.31	0.51392	.	0.257498	0.36703	N	0.002441	T	0.03739	0.0106	N	0.16266	0.395	0.34913	D	0.747648	P	0.42993	0.797	B	0.29440	0.102	T	0.43829	-0.9367	10	0.62326	D	0.03	.	13.095	0.59187	0.0:0.2133:0.7867:0.0	.	70	O15335	CHAD_HUMAN	L	70	ENSP00000423812:S70L;ENSP00000258969:S70L	ENSP00000258969:S70L	S	-	2	0	CHAD	45900965	0.990000	0.36364	0.930000	0.37139	0.618000	0.37518	2.177000	0.42509	2.232000	0.73038	0.462000	0.41574	TCG		0.602	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267	
USP6	9098	broad.mit.edu	37	17	5058812	5058812	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:5058812G>T	ENST00000574788.1	+	31	4969	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.K596N|USP6_ENST00000250066.6_Missense_Mutation_p.K913N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	913	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.K913N(1)		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						ATACCCGGAAGAAAGACCTAT	0.488			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																p.K913N			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2739T	17						.						179.0	155.0	163.0					17																	5058812		2203	4300	6503	4999536	SO:0001583	missense	9098	exon23			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.2739G>T	17.37:g.5058812G>T	ENSP00000460380:p.Lys913Asn		4999536	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104184	0.20632	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.14391	2.91;2.51	2.91	-0.506	0.11989	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046327	0.85682	D	0.000000	T	0.18759	0.0450	L	0.38649	1.16	0.40613	D	0.981696	D;P	0.89917	1.0;0.716	D;B	0.83275	0.996;0.376	T	0.10776	-1.0615	10	0.26408	T	0.33	.	5.8008	0.18412	0.5359:0.0:0.4641:0.0	.	596;913	P35125-2;P35125	.;UBP6_HUMAN	N	913;596	ENSP00000250066:K913N;ENSP00000305473:K596N	ENSP00000250066:K913N	K	+	3	2	USP6	4999536	0.998000	0.40836	0.999000	0.59377	0.950000	0.60333	0.360000	0.20250	0.070000	0.16634	0.398000	0.26397	AAG		0.488	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
USP6	9098	broad.mit.edu	37	17	5073954	5073954	+	Missense_Mutation	SNP	C	C	A	rs561414148		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:5073954C>A	ENST00000574788.1	+	36	5928	c.3698C>A	c.(3697-3699)gCt>gAt	p.A1233D	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.A916D|USP6_ENST00000250066.6_Missense_Mutation_p.A1233D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1233	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.A1233D(1)		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						GAGAATGGGGCTGGGCAGATC	0.577			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18760	0.0		0.0	False		,,,				2504	0.0				p.A1233D			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3698A	17						.						29.0	28.0	29.0					17																	5073954		2203	4297	6500	5014678	SO:0001583	missense	9098	exon28			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.3698C>A	17.37:g.5073954C>A	ENSP00000460380:p.Ala1233Asp		5014678	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294530	0.40594	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.15139	2.87;2.45	2.35	1.31	0.21738	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.816389	0.11696	N	0.538456	T	0.16428	0.0395	L	0.27053	0.805	0.24556	N	0.993997	P;P	0.50528	0.804;0.936	B;P	0.50860	0.311;0.652	T	0.20974	-1.0259	10	0.27785	T	0.31	.	8.6504	0.34031	0.0:0.761:0.239:0.0	.	916;1233	P35125-2;P35125	.;UBP6_HUMAN	D	1233;916	ENSP00000250066:A1233D;ENSP00000305473:A916D	ENSP00000250066:A1233D	A	+	2	0	USP6	5014678	0.797000	0.28877	0.997000	0.53966	0.380000	0.30137	1.676000	0.37565	0.300000	0.22699	0.184000	0.17185	GCT		0.577	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
ZNF594	84622	broad.mit.edu	37	17	5087112	5087112	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:5087112C>A	ENST00000399604.4	-	1	580	c.440G>T	c.(439-441)aGa>aTa	p.R147I	ZNF594_ENST00000575779.1_Missense_Mutation_p.R147I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	147					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.R147I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTATGAATTCTCTGATGTAT	0.308																																					p.R147I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440T	17						.						78.0	79.0	79.0					17																	5087112		1962	4182	6144	5027836	SO:0001583	missense	84622	exon2			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.440G>T	17.37:g.5087112C>A	ENSP00000382513:p.Arg147Ile		5027836	NM_032530	Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	4.780	0.145008	0.09134	.	.	ENSG00000180626	ENST00000399604	T	0.58060	0.36	2.46	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44159	0.1280	M	0.64260	1.97	0.31617	N	0.650809	B	0.17038	0.02	B	0.12156	0.007	T	0.49133	-0.8971	9	0.56958	D	0.05	.	3.1151	0.06371	0.2679:0.581:0.0:0.1511	.	147	Q96JF6	ZN594_HUMAN	I	147	ENSP00000382513:R147I	ENSP00000382513:R147I	R	-	2	0	ZNF594	5027836	0.000000	0.05858	0.935000	0.37517	0.094000	0.18550	-0.416000	0.07097	0.366000	0.24427	-0.261000	0.10672	AGA		0.308	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737	
KIF2B	84643	broad.mit.edu	37	17	51901730	51901730	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:51901730G>A	ENST00000268919.4	+	1	1492	c.1336G>A	c.(1336-1338)Gtt>Att	p.V446I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	446	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 nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V446I(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTTTTCCCTCGTTGATTTAGC	0.502																																					p.V446I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1336A	17						.						59.0	53.0	55.0					17																	51901730		2203	4300	6503	49256729	SO:0001583	missense	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1336G>A	17.37:g.51901730G>A	ENSP00000268919:p.Val446Ile		49256729	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939324	0.02322	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.80304	-1.36	5.73	-0.412	0.12367	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.382878	0.18691	N	0.133860	T	0.47322	0.1439	N	0.02736	-0.51	0.09310	N	0.999993	B	0.26081	0.141	B	0.27887	0.084	T	0.49399	-0.8944	10	0.02654	T	1	.	3.7616	0.08606	0.4975:0.0:0.3289:0.1737	.	446	Q8N4N8	KIF2B_HUMAN	I	446;334	ENSP00000268919:V446I	ENSP00000268919:V446I	V	+	1	0	KIF2B	49256729	0.994000	0.37717	0.024000	0.17045	0.596000	0.36781	2.892000	0.48625	0.132000	0.18615	0.655000	0.94253	GTT		0.502	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
RABEP1	9135	broad.mit.edu	37	17	5241425	5241425	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:5241425G>A	ENST00000546142.2	+	5	827	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	RABEP1_ENST00000341923.6_Missense_Mutation_p.A214T|RABEP1_ENST00000537505.1_Missense_Mutation_p.A171T|RABEP1_ENST00000408982.2_Missense_Mutation_p.A214T|RABEP1_ENST00000262477.6_Missense_Mutation_p.A214T			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	214					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)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAGCTGGAGGCCTCAAAGGT	0.398																																					p.A214T												.	.	0			c.G640A	17						.						109.0	111.0	111.0					17																	5241425		1860	4094	5954	5182149	SO:0001583	missense	9135	exon5			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.640G>A	17.37:g.5241425G>A	ENSP00000437701:p.Ala214Thr		5182149	NM_001083585	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140718	0.94560	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.49139	0.79;0.8;0.79;0.8;0.79	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.998;0.998	D;D;D;D;D;D	0.87578	0.998;0.996;0.989;0.996;0.995;0.995	T	0.46952	-0.9154	10	0.19590	T	0.45	-6.999	18.4318	0.90628	0.0:0.0:1.0:0.0	.	171;171;214;214;214;214	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	T	214;214;214;214;214;171	ENSP00000262477:A214T;ENSP00000386150:A214T;ENSP00000437701:A214T;ENSP00000339569:A214T;ENSP00000445408:A171T	ENSP00000262477:A214T	A	+	1	0	RABEP1	5182149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.364000	0.97136	2.678000	0.91216	0.591000	0.81541	GCC		0.398	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	
ANKFN1	162282	broad.mit.edu	37	17	54230881	54230881	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:54230881C>A	ENST00000318698.2	+	1	46	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	ANKFN1_ENST00000566473.2_Missense_Mutation_p.S4Y|ANKFN1_ENST00000574292.1_3'UTR	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	4								p.S4Y(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGGAGGCGTCTCTAACCAGG	0.498																																					p.S4Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11A	17						.						153.0	138.0	143.0					17																	54230881		2203	4300	6503	51585880	SO:0001583	missense	162282	exon1			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.11C>A	17.37:g.54230881C>A	ENSP00000321627:p.Ser4Tyr		51585880	NM_153228		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587114	0.46110	.	.	ENSG00000153930	ENST00000318698	T	0.24723	1.84	5.33	5.33	0.75918	.	0.772349	0.12096	N	0.499971	T	0.17109	0.0411	N	0.08118	0	0.27365	N	0.955852	P	0.37864	0.61	B	0.37387	0.248	T	0.15235	-1.0444	10	0.72032	D	0.01	.	14.3867	0.66949	0.0:1.0:0.0:0.0	.	4	Q8N957	ANKF1_HUMAN	Y	4	ENSP00000321627:S4Y	ENSP00000321627:S4Y	S	+	2	0	ANKFN1	51585880	0.025000	0.19082	0.982000	0.44146	0.914000	0.54420	1.479000	0.35453	2.768000	0.95171	0.655000	0.94253	TCT		0.498	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	
COIL	8161	broad.mit.edu	37	17	55027343	55027343	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:55027343C>T	ENST00000240316.4	-	2	1294	c.1260G>A	c.(1258-1260)ggG>ggA	p.G420G		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	420	2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.|Required for interaction with SMN.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.G420G(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					AAACAGGATGCCCTCGTCCTC	0.468																																					p.G420G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1260A	17						.						87.0	91.0	90.0					17																	55027343		2203	4300	6503	52382342	SO:0001819	synonymous_variant	8161	exon2			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1260G>A	17.37:g.55027343C>T			52382342	NM_004645	B2R931	Silent	SNP	ENST00000240316.4	37	CCDS11592.1																																																																																				0.468	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1		
MPO	4353	broad.mit.edu	37	17	56357221	56357221	+	Nonsense_Mutation	SNP	G	G	A	rs181494077		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:56357221G>A	ENST00000225275.3	-	3	579	c.403C>T	c.(403-405)Cga>Tga	p.R135*	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Nonsense_Mutation_p.R135*	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	135					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R135*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AATGGCCTTCGCCACAGGGAC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17031	0.0		0.0	False		,,,				2504	0.0				p.R135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C403T	17						.						49.0	45.0	46.0					17																	56357221		2203	4300	6503	53712220	SO:0001587	stop_gained	4353	exon3				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.403C>T	17.37:g.56357221G>A	ENSP00000225275:p.Arg135*		53712220	NM_000250	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Nonsense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.23	3.577753	0.65878	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	.	.	.	5.24	0.528	0.17089	.	1.240670	0.05562	N	0.569438	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	0.7147	0.593	0.00731	0.2639:0.1179:0.3235:0.2946	.	.	.	.	X	135	.	ENSP00000225275:R135X	R	-	1	2	MPO	53712220	0.012000	0.17670	0.008000	0.14137	0.088000	0.18126	1.829000	0.39121	0.165000	0.19558	0.561000	0.74099	CGA		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
TEX14	56155	broad.mit.edu	37	17	56676339	56676339	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:56676339G>A	ENST00000240361.8	-	14	2470	c.2385C>T	c.(2383-2385)ggC>ggT	p.G795G	TEX14_ENST00000349033.5_Silent_p.G789G|TEX14_ENST00000389934.3_Silent_p.G789G			Q8IWB6	TEX14_HUMAN	testis expressed 14	795					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.G795G(1)|p.G789G(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGATGGAGGGCCCACGGCCA	0.478																																					p.G789G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2367T	17						.						138.0	134.0	136.0					17																	56676339		2203	4300	6503	54031338	SO:0001819	synonymous_variant	56155	exon14			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2385C>T	17.37:g.56676339G>A			54031338	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.478	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56676432	56676432	+	Silent	SNP	G	G	A	rs143589349		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:56676432G>A	ENST00000240361.8	-	14	2377	c.2292C>T	c.(2290-2292)gtC>gtT	p.V764V	TEX14_ENST00000349033.5_Silent_p.V758V|TEX14_ENST00000389934.3_Silent_p.V758V			Q8IWB6	TEX14_HUMAN	testis expressed 14	764					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.V764V(1)|p.V758V(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTTCATCTCGACTTCATCTA	0.438																																					p.V758V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2274T	17						.	A	,,	2,4404	826.0+/-416.6	0,2,2201	213.0	194.0	200.0		2292,2274,2274	-2.9	0.0	17	dbSNP_134	200	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	764/1498,758/1452,758/1492	56676432	2,13004	2203	4300	6503	54031431	SO:0001819	synonymous_variant	56155	exon14			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2292C>T	17.37:g.56676432G>A			54031431	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.438	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
VMP1	81671	broad.mit.edu	37	17	57812753	57812753	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:57812753T>G	ENST00000262291.4	+	3	441	c.131T>G	c.(130-132)aTt>aGt	p.I44S	VMP1_ENST00000539763.1_Intron|VMP1_ENST00000537567.1_De_novo_Start_OutOfFrame|VMP1_ENST00000536180.1_De_novo_Start_OutOfFrame|VMP1_ENST00000545362.1_Missense_Mutation_p.I44S	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	44					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.I44S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AGGCAGAATATTGTCCTGTGG	0.408																																					p.I44S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T131G	17						.						109.0	96.0	100.0					17																	57812753		2203	4300	6503	55167535	SO:0001583	missense	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.131T>G	17.37:g.57812753T>G	ENSP00000262291:p.Ile44Ser		55167535	NM_030938	B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.859024	0.91433	.	.	ENSG00000062716	ENST00000262291;ENST00000545362	.	.	.	5.28	5.28	0.74379	.	0.056284	0.64402	D	0.000001	T	0.76205	0.3955	M	0.81802	2.56	0.80722	D	1	P;P	0.47962	0.903;0.862	P;P	0.55055	0.585;0.767	T	0.80446	-0.1379	9	0.87932	D	0	-5.1581	15.2188	0.73292	0.0:0.0:0.0:1.0	.	44;44	F5H2J3;Q96GC9	.;VMP1_HUMAN	S	44	.	ENSP00000262291:I44S	I	+	2	0	VMP1	55167535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.702000	0.84576	1.981000	0.57761	0.482000	0.46254	ATT		0.408	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938	
HEATR6	63897	broad.mit.edu	37	17	58127010	58127010	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:58127010C>A	ENST00000184956.6	-	16	2494	c.2478G>T	c.(2476-2478)aaG>aaT	p.K826N	HEATR6_ENST00000585976.1_Missense_Mutation_p.K714N	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	826							poly(A) RNA binding (GO:0044822)			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)			CTAAGCGATTCTTGCTGTCAT	0.478																																					p.K826N												.	.	0			c.G2478T	17						.						87.0	79.0	82.0					17																	58127010		2203	4300	6503	55481792	SO:0001583	missense	63897	exon16			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.2478G>T	17.37:g.58127010C>A	ENSP00000184956:p.Lys826Asn		55481792	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078234	0.55753	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.65916	-0.18	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.048994	0.85682	D	0.000000	T	0.54759	0.1878	N	0.19112	0.55	0.34249	D	0.678519	P;B	0.45531	0.86;0.418	P;B	0.45232	0.474;0.069	T	0.66606	-0.5881	10	0.46703	T	0.11	-6.0433	18.3024	0.90168	0.0:1.0:0.0:0.0	.	561;826	E7ESB9;Q6AI08	.;HEAT6_HUMAN	N	826;561	ENSP00000184956:K826N	ENSP00000184956:K826N	K	-	3	2	HEATR6	55481792	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	5.070000	0.64376	2.610000	0.88304	0.650000	0.86243	AAG		0.478	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	
USP32	84669	broad.mit.edu	37	17	58284447	58284447	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:58284447A>C	ENST00000300896.4	-	25	3166	c.2972T>G	c.(2971-2973)tTt>tGt	p.F991C	USP32_ENST00000592339.1_Missense_Mutation_p.F661C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	991	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F991C(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGCACACAAAAATCCACTCAC	0.408																																					p.F991C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2972G	17						.						88.0	80.0	83.0					17																	58284447		2203	4299	6502	55639229	SO:0001583	missense	84669	exon25			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2972T>G	17.37:g.58284447A>C	ENSP00000300896:p.Phe991Cys		55639229	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.448014	0.63178	.	.	ENSG00000170832	ENST00000300896	T	0.44083	0.93	5.79	4.7	0.59300	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.090377	0.85682	D	0.000000	T	0.39384	0.1076	L	0.35487	1.065	0.80722	D	1	P	0.50943	0.94	P	0.51701	0.677	T	0.15037	-1.0451	10	0.37606	T	0.19	.	7.4226	0.27081	0.8023:0.0:0.0689:0.1288	.	991	Q8NFA0	UBP32_HUMAN	C	991	ENSP00000300896:F991C	ENSP00000300896:F991C	F	-	2	0	USP32	55639229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.100000	0.64560	0.986000	0.38683	0.533000	0.62120	TTT		0.408	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
C17orf64	124773	broad.mit.edu	37	17	58506843	58506843	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:58506843C>T	ENST00000269127.4	+	5	634	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	184								p.L74L(1)		breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GAAGGAGCGGCTGTCCAACAT	0.612																																					p.L184L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C550T	17						.						54.0	52.0	53.0					17																	58506843		2203	4300	6503	55861625	SO:0001819	synonymous_variant	124773	exon5			BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.550C>T	17.37:g.58506843C>T			55861625	NM_181707	Q8IY87	Silent	SNP	ENST00000269127.4	37	CCDS32698.2																																																																																				0.612	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707	
NACA2	342538	broad.mit.edu	37	17	59668192	59668192	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:59668192G>A	ENST00000521764.1	-	1	371	c.350C>T	c.(349-351)tCg>tTg	p.S117L		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	117	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.S117L(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GTAGGCATCCGAAGCAGGGCT	0.443																																					p.S117L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	17						.						169.0	170.0	170.0					17																	59668192		2203	4300	6503	57022974	SO:0001583	missense	342538	exon1			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.350C>T	17.37:g.59668192G>A	ENSP00000427802:p.Ser117Leu		57022974	NM_199290	Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531738	0.45073	.	.	ENSG00000253506	ENST00000521764	T	0.55052	0.54	0.753	0.753	0.18404	Nascent polypeptide-associated complex NAC (2);	0.000000	0.64402	U	0.000016	T	0.53658	0.1810	M	0.90369	3.11	0.58432	D	0.999997	B	0.22909	0.077	B	0.21708	0.036	T	0.52779	-0.8530	9	.	.	.	.	7.3227	0.26536	0.0:0.0:1.0:0.0	.	117	Q9H009	NACA2_HUMAN	L	117	ENSP00000427802:S117L	.	S	-	2	0	NACA2	57022974	1.000000	0.71417	0.940000	0.37924	0.243000	0.25628	6.497000	0.73674	0.702000	0.31825	0.411000	0.27672	TCG		0.443	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290	
BRIP1	83990	broad.mit.edu	37	17	59878696	59878696	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:59878696T>C	ENST00000259008.2	-	8	1325	c.1058A>G	c.(1057-1059)tAc>tGc	p.Y353C	BRIP1_ENST00000577598.1_Missense_Mutation_p.Y353C	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	353	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y353C(1)		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						TCGGGCTGTGTAATATGGACA	0.408			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													p.Y353C		yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1058G	17						.						251.0	244.0	246.0					17																	59878696		2203	4300	6503	57233478	SO:0001583	missense	83990	exon8			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.1058A>G	17.37:g.59878696T>C	ENSP00000259008:p.Tyr353Cys		57233478	NM_032043	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072228	0.55646	.	.	ENSG00000136492	ENST00000259008	T	0.76968	-1.06	5.0	5.0	0.66597	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.145674	0.48767	D	0.000170	D	0.90061	0.6896	H	0.95611	3.695	0.45995	D	0.998801	D	0.89917	1.0	D	0.79784	0.993	D	0.91391	0.5135	9	.	.	.	-10.537	8.5457	0.33419	0.2748:0.0:0.0:0.7252	.	353	Q9BX63	FANCJ_HUMAN	C	353	ENSP00000259008:Y353C	.	Y	-	2	0	BRIP1	57233478	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.211000	0.51137	2.000000	0.58554	0.379000	0.24179	TAC		0.408	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
EFCAB3	146779	broad.mit.edu	37	17	60483854	60483854	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:60483854A>C	ENST00000305286.3	+	7	580	c.502A>C	c.(502-504)Aaa>Caa	p.K168Q	EFCAB3_ENST00000450662.2_Missense_Mutation_p.K220Q	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	168							calcium ion binding (GO:0005509)	p.K168Q(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TTTCCAAAGAAAATTCCAGCA	0.373																																					p.K168Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A502C	17						.						33.0	32.0	32.0					17																	60483854		2203	4300	6503	57837586	SO:0001583	missense	146779	exon7			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.502A>C	17.37:g.60483854A>C	ENSP00000302649:p.Lys168Gln		57837586	NM_173503	J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729676	0.69074	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404	T;T;T	0.71222	-0.55;-0.5;-0.47	5.35	5.35	0.76521	.	0.271412	0.31589	N	0.007392	T	0.74359	0.3706	M	0.75777	2.31	0.26714	N	0.970915	D;D	0.54047	0.964;0.964	P;P	0.47981	0.563;0.563	T	0.73248	-0.4043	10	0.87932	D	0	.	11.6443	0.51253	1.0:0.0:0.0:0.0	.	168;168	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	Q	220;168;168	ENSP00000403932:K220Q;ENSP00000302649:K168Q;ENSP00000429124:K168Q	ENSP00000302649:K168Q	K	+	1	0	EFCAB3	57837586	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.665000	0.61547	2.247000	0.74100	0.482000	0.46254	AAA		0.373	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503	
TLK2	11011	broad.mit.edu	37	17	60655876	60655876	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:60655876A>C	ENST00000326270.9	+	15	1561	c.1293A>C	c.(1291-1293)gaA>gaC	p.E431D	TLK2_ENST00000346027.5_Missense_Mutation_p.E409D|TLK2_ENST00000343388.7_Missense_Mutation_p.E377D|TLK2_ENST00000582809.1_Missense_Mutation_p.E260D|TLK2_ENST00000542523.1_Missense_Mutation_p.E377D	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	431					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E408D(1)|p.E431D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGAGACTAGAAAGGGTTAGAA	0.403																																					p.E409D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1227C	17						.						99.0	98.0	99.0					17																	60655876		2203	4300	6503	58009608	SO:0001583	missense	11011	exon14			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1293A>C	17.37:g.60655876A>C	ENSP00000316512:p.Glu431Asp		58009608	NM_006852	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37		.	.	.	.	.	.	.	.	.	.	A	13.97	2.395235	0.42512	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.68479	-0.29;-0.33;-0.31;-0.33	5.31	2.77	0.32553	.	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	M	0.63428	1.95	0.80722	D	1	D;B;B;B	0.89917	1.0;0.16;0.289;0.33	D;B;B;B	0.85130	0.997;0.132;0.174;0.103	T	0.71038	-0.4708	10	0.45353	T	0.12	.	4.6982	0.12815	0.5845:0.0:0.4155:0.0	.	431;377;409;409	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	D	409;377;431;377	ENSP00000275780:E409D;ENSP00000340800:E377D;ENSP00000316512:E431D;ENSP00000442311:E377D	ENSP00000316512:E431D	E	+	3	2	TLK2	58009608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.362000	0.52314	0.971000	0.38288	0.533000	0.62120	GAA		0.403	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	
TANC2	26115	broad.mit.edu	37	17	61176579	61176579	+	Silent	SNP	C	C	T	rs375611978		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:61176579C>T	ENST00000424789.2	+	3	187	c.183C>T	c.(181-183)taC>taT	p.Y61Y	TANC2_ENST00000389520.4_Silent_p.Y61Y	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	61					in utero embryonic development (GO:0001701)			p.Y61Y(1)		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						AGCCAGACTACGCTGTCCCGC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		14544	0.0		0.0	False		,,,				2504	0.001				p.Y61Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	17						.						42.0	46.0	45.0					17																	61176579		2098	4226	6324	58530311	SO:0001819	synonymous_variant	26115	exon3			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.183C>T	17.37:g.61176579C>T			58530311	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	CCDS45754.1																																																																																				0.512	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
TANC2	26115	broad.mit.edu	37	17	61498375	61498375	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:61498375C>A	ENST00000424789.2	+	25	5036	c.5032C>A	c.(5032-5034)Caa>Aaa	p.Q1678K	TANC2_ENST00000389520.4_Missense_Mutation_p.Q1688K|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1678					in utero embryonic development (GO:0001701)			p.Q1688K(1)		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						GCAGCATGTCCAAGCCAGCCT	0.557																																					p.Q1678K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5032A	17						.						90.0	94.0	93.0					17																	61498375		2190	4289	6479	58852107	SO:0001583	missense	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.5032C>A	17.37:g.61498375C>A	ENSP00000387593:p.Gln1678Lys		58852107	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184558	0.38609	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68903	-0.36;-0.36	5.06	4.08	0.47627	.	0.071026	0.56097	N	0.000025	T	0.53012	0.1770	N	0.24115	0.695	0.51012	D	0.999906	B	0.06786	0.001	B	0.04013	0.001	T	0.53676	-0.8405	10	0.66056	D	0.02	.	13.5916	0.61964	0.1555:0.8445:0.0:0.0	.	1678	Q9HCD6	TANC2_HUMAN	K	1688;1678	ENSP00000374171:Q1688K;ENSP00000387593:Q1678K	ENSP00000374171:Q1688K	Q	+	1	0	TANC2	58852107	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.085000	0.76875	1.477000	0.48234	0.561000	0.74099	CAA		0.557	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
TANC2	26115	broad.mit.edu	37	17	61499255	61499255	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:61499255C>T	ENST00000424789.2	+	25	5916	c.5912C>T	c.(5911-5913)tCt>tTt	p.S1971F	TANC2_ENST00000389520.4_Missense_Mutation_p.S1981F|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1971					in utero embryonic development (GO:0001701)			p.S1981F(1)		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						TCCCGAGACTCTCGGCAAGGG	0.527																																					p.S1971F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5912T	17						.						61.0	64.0	63.0					17																	61499255		2026	4184	6210	58852987	SO:0001583	missense	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.5912C>T	17.37:g.61499255C>T	ENSP00000387593:p.Ser1971Phe		58852987	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268214	0.59540	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68479	-0.33;-0.33	5.75	5.75	0.90469	.	0.121669	0.56097	D	0.000025	T	0.58004	0.2092	N	0.14661	0.345	0.46167	D	0.998901	P	0.39964	0.697	B	0.41691	0.364	T	0.64089	-0.6489	10	0.87932	D	0	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	1971	Q9HCD6	TANC2_HUMAN	F	1981;1971	ENSP00000374171:S1981F;ENSP00000387593:S1971F	ENSP00000374171:S1981F	S	+	2	0	TANC2	58852987	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.754000	0.55189	2.866000	0.98385	0.650000	0.86243	TCT		0.527	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
DDX42	11325	broad.mit.edu	37	17	61895457	61895457	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:61895457G>A	ENST00000578681.1	+	19	3117	c.2516G>A	c.(2515-2517)cGc>cAc	p.R839H	DDX42_ENST00000582985.1_Intron|DDX42_ENST00000457800.2_Missense_Mutation_p.R839H|DDX42_ENST00000359353.5_Missense_Mutation_p.R720H|DDX42_ENST00000583590.1_Missense_Mutation_p.R839H|DDX42_ENST00000389924.2_Missense_Mutation_p.R839H	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	839	Gly-rich.|His-rich.				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.R839H(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						GATGGTGGTCGCCATGGAGAT	0.582																																					p.R839H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2516A	17						.						62.0	59.0	60.0					17																	61895457		2203	4300	6503	59249189	SO:0001583	missense	11325	exon18			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.2516G>A	17.37:g.61895457G>A	ENSP00000464050:p.Arg839His		59249189	NM_203499	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188697	0.57909	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.23348	1.91;1.91	5.06	4.09	0.47781	.	1.352420	0.04439	N	0.370541	T	0.51075	0.1653	L	0.53249	1.67	0.58432	D	0.999996	D;B	0.89917	1.0;0.004	D;B	0.83275	0.996;0.002	T	0.02805	-1.1108	10	0.87932	D	0	-7.2026	12.8031	0.57596	0.0786:0.0:0.9214:0.0	.	385;839	B3KV84;Q86XP3	.;DDX42_HUMAN	H	839;839;556	ENSP00000374574:R839H;ENSP00000390121:R839H	ENSP00000352308:R556H	R	+	2	0	DDX42	59249189	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.932000	0.70121	1.362000	0.46000	0.467000	0.42956	CGC		0.582	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372	
DDX42	11325	broad.mit.edu	37	17	61898986	61898986	+	IGR	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:61898986G>A	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.I538I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.I538I(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						CATCGTCCTCGATCCCAGCAA	0.597																																					p.I538I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1614T	17						.						138.0	133.0	135.0					17																	61898986		2203	4300	6503	59252718	SO:0001628	intergenic_variant	117246	exon16			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			17.37:g.61898986G>A			59252718	NM_017647	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	CCDS32704.1																																																																																				0.597	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372	
GH2	2689	broad.mit.edu	37	17	61958041	61958041	+	Intron	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:61958041G>A	ENST00000423893.2	-	4	518				GH2_ENST00000456543.2_Intron|GH2_ENST00000332800.7_Nonsense_Mutation_p.Q183*|GH2_ENST00000449787.2_Intron			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.Q183*(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTCAGCGCCTGACTGCTAAAA	0.567																																					p.Q183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C547T	17						.						86.0	90.0	88.0					17																	61958041		2203	4300	6503	59311773	SO:0001627	intron_variant	2689	exon4			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.456+90C>T	17.37:g.61958041G>A			59311773	NM_022557	B1A4H5|B1A4H7|O14643|O14644|P09587	Nonsense_Mutation	SNP	ENST00000423893.2	37	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	8.221	0.802399	0.16397	.	.	ENSG00000136487	ENST00000332800	.	.	.	2.51	-3.22	0.05125	.	4.021960	0.00691	N	0.000739	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.1877	0.10405	0.1345:0.0:0.2943:0.5713	.	.	.	.	X	183	.	ENSP00000333157:Q183X	Q	-	1	0	GH2	59311773	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.297000	0.19101	-0.351000	0.08249	-1.826000	0.00596	CAG		0.567	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059	
GH1	2688	broad.mit.edu	37	17	61995470	61995470	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:61995470C>T	ENST00000323322.5	-	3	240	c.198G>A	c.(196-198)caG>caA	p.Q66Q	GH1_ENST00000458650.2_Intron|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	66					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.Q66Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ATGAATACTTCTGTTCCTTTG	0.512																																					p.Q66Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G198A	17						.						186.0	188.0	187.0					17																	61995470		2203	4300	6503	59349202	SO:0001819	synonymous_variant	2688	exon3			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.198G>A	17.37:g.61995470C>T			59349202	NM_000515	A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	CCDS11653.1																																																																																				0.512	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515	
ICAM2	3384	broad.mit.edu	37	17	62082685	62082685	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:62082685G>A	ENST00000412356.1	-	4	464	c.110C>T	c.(109-111)gCg>gTg	p.A37V	ICAM2_ENST00000418105.1_Missense_Mutation_p.A37V|ICAM2_ENST00000579788.1_Missense_Mutation_p.A37V|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000449662.2_Missense_Mutation_p.A37V|ICAM2_ENST00000579687.1_Missense_Mutation_p.A37V|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Splice_Site_p.A37V	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	37			A -> T (in dbSNP:rs5503).		extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)	p.A37V(1)		large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGGCTCAACCGCCAGCTTCTT	0.567																																					p.A37V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C110T	17						.						81.0	63.0	69.0					17																	62082685		2203	4300	6503	59436417	SO:0001583	missense	3384	exon2				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.110C>T	17.37:g.62082685G>A	ENSP00000415283:p.Ala37Val		59436417	NM_000873	Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	G	2.276	-0.365762	0.05069	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.11712	2.75;2.75;2.75	5.11	-3.62	0.04543	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	1.692280	0.03340	N	0.194613	T	0.04318	0.0119	N	0.03983	-0.305	0.09310	N	1	B;B	0.19073	0.033;0.004	B;B	0.09377	0.004;0.001	T	0.42766	-0.9432	10	0.02654	T	1	-0.6102	11.5478	0.50702	0.4736:0.0:0.5264:0.0	.	37;37	B7Z316;P13598	.;ICAM2_HUMAN	V	37	ENSP00000415283:A37V;ENSP00000388666:A37V;ENSP00000392634:A37V	ENSP00000415283:A37V	A	-	2	0	ICAM2	59436417	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.466000	0.06672	-0.759000	0.04684	-0.605000	0.04089	GCG		0.567	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1		
CEP95	90799	broad.mit.edu	37	17	62522230	62522230	+	Missense_Mutation	SNP	T	T	C	rs34450773		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:62522230T>C	ENST00000556440.2	+	10	1574	c.1064T>C	c.(1063-1065)tTc>tCc	p.F355S	CEP95_ENST00000577476.1_3'UTR|CEP95_ENST00000553412.1_Missense_Mutation_p.F191S	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	355						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.F355S(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AATTCACCTTTCCCCCAGAGG	0.373																																					p.F355S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1064C	17						.						115.0	112.0	113.0					17																	62522230		1839	4095	5934	59952692	SO:0001583	missense	90799	exon10			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.1064T>C	17.37:g.62522230T>C	ENSP00000450461:p.Phe355Ser		59952692	NM_138363	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	6.024	0.372763	0.11409	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.30714	1.52;1.53	5.33	1.9	0.25705	.	0.490890	0.23748	N	0.044943	T	0.20700	0.0498	L	0.43923	1.385	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.25537	-1.0129	10	0.13853	T	0.58	-0.4928	7.5648	0.27872	0.0:0.2455:0.0:0.7545	.	355	Q96GE4	CEP95_HUMAN	S	290;355;191	ENSP00000450461:F355S;ENSP00000450906:F191S	ENSP00000438458:F290S	F	+	2	0	CEP95	59952692	0.000000	0.05858	0.033000	0.17914	0.221000	0.24807	-0.158000	0.10070	0.413000	0.25759	-0.290000	0.09829	TTC		0.373	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
CEP112	201134	broad.mit.edu	37	17	63848086	63848086	+	Missense_Mutation	SNP	G	G	A	rs377414265		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:63848086G>A	ENST00000392769.2	-	21	2448	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	CEP112_ENST00000535342.2_Missense_Mutation_p.R744W|CEP112_ENST00000541355.1_Missense_Mutation_p.R379W|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.R702W	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	744					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.R744W(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGCTGTTTCCGCTGTGAGTTC	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		16860	0.001		0.0	False		,,,				2504	0.0				p.R744W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2230T	17						.	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	104.0	95.0	98.0		2230,2230	-1.4	1.0	17		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CEP112	NM_001199165.1,NM_145036.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	744/956,744/956	63848086	1,13005	2203	4300	6503	61278548	SO:0001583	missense	201134	exon21			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2230C>T	17.37:g.63848086G>A	ENSP00000376522:p.Arg744Trp		61278548	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905373	0.52333	0.0	1.16E-4	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.18	-1.42	0.08913	.	0.331572	0.28409	N	0.015447	T	0.61961	0.2389	L	0.55481	1.735	0.31146	N	0.706069	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.987	T	0.69789	-0.5050	10	0.56958	D	0.05	-14.1821	18.6087	0.91276	0.0:0.0:0.2877:0.7123	.	702;702;744	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	W	744;744;379;702	ENSP00000442784:R744W;ENSP00000376522:R744W;ENSP00000443711:R379W;ENSP00000440775:R702W	ENSP00000376522:R744W	R	-	1	2	CEP112	61278548	0.889000	0.30405	0.992000	0.48379	0.998000	0.95712	-0.217000	0.09253	-0.126000	0.11682	0.650000	0.86243	CGG		0.433	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	
CEP112	201134	broad.mit.edu	37	17	64173134	64173134	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:64173134C>T	ENST00000392769.2	-	3	329	c.111G>A	c.(109-111)cgG>cgA	p.R37R	CEP112_ENST00000535342.2_Silent_p.R37R|CEP112_ENST00000537949.1_Silent_p.R37R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	37					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.R37R(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CACACCTCTGCCGTTCTATAA	0.348																																					p.R37R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G111A	17						.						66.0	67.0	67.0					17																	64173134		2203	4300	6503	61603596	SO:0001819	synonymous_variant	201134	exon3			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.111G>A	17.37:g.64173134C>T			61603596	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	CCDS32710.1																																																																																				0.348	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	
CACNG5	27091	broad.mit.edu	37	17	64876801	64876801	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:64876801C>A	ENST00000533854.1	+	4	648	c.411C>A	c.(409-411)ttC>ttA	p.F137L	CACNG5_ENST00000307139.3_Missense_Mutation_p.F137L|CACNG5_ENST00000169565.3_Missense_Mutation_p.F137L			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	137					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.F137L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTGGCATCTTCTTTATCCTCT	0.443																																					p.F137L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C411A	17						.						235.0	213.0	220.0					17																	64876801		2203	4300	6503	62307263	SO:0001583	missense	27091	exon3			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.411C>A	17.37:g.64876801C>A	ENSP00000436836:p.Phe137Leu		62307263	NM_014404	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578036	0.45902	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.88586	-2.4;-2.4;-2.4	3.87	2.72	0.32119	.	0.134519	0.50627	D	0.000102	T	0.79718	0.4494	L	0.31476	0.935	0.53005	D	0.999964	B	0.18310	0.027	B	0.27076	0.076	T	0.66614	-0.5879	10	0.05959	T	0.93	-26.5337	10.4262	0.44380	0.0:0.8903:0.0:0.1097	.	137	Q9UF02	CCG5_HUMAN	L	137	ENSP00000436836:F137L;ENSP00000303092:F137L;ENSP00000169565:F137L	ENSP00000169565:F137L	F	+	3	2	CACNG5	62307263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.673000	0.37534	0.634000	0.30469	0.591000	0.81541	TTC		0.443	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811	
PSMD12	5718	broad.mit.edu	37	17	65341972	65341972	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:65341972G>A	ENST00000356126.3	-	8	904	c.797C>T	c.(796-798)gCt>gTt	p.A266V	PSMD12_ENST00000357146.4_Splice_Site_p.A246V	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	266	PCI.				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.A266V(1)		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)					ACTCTTCAGAGCCTAAAAGAG	0.343																																					p.A246V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C737T	17						.						86.0	75.0	79.0					17																	65341972		2203	4300	6503	62772434	SO:0001630	splice_region_variant	5718	exon7			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.796-1C>T	17.37:g.65341972G>A			62772434	NM_174871	A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	G	6.947	0.544514	0.13312	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.05996	3.36;3.36	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.08223	0.0205	L	0.39692	1.235	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.25506	0.036;0.061	T	0.33548	-0.9864	10	0.16896	T	0.51	-15.3899	19.1176	0.93348	0.0:0.0:1.0:0.0	.	246;266	A6NP15;O00232	.;PSD12_HUMAN	V	266;246	ENSP00000348442:A266V;ENSP00000349667:A246V	ENSP00000348442:A266V	A	-	2	0	PSMD12	62772434	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	6.205000	0.72148	2.505000	0.84491	0.455000	0.32223	GCT		0.343	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871	Missense_Mutation
WIPI1	55062	broad.mit.edu	37	17	66431771	66431771	+	Missense_Mutation	SNP	G	G	A	rs371498242		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:66431771G>A	ENST00000262139.5	-	6	610	c.611C>T	c.(610-612)gCg>gTg	p.A204V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A122V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	204					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)	p.A204V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTTCAGACGCACTTGCTAG	0.517											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A204V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611T	17						.	G	VAL/ALA	0,4406		0,0,2203	305.0	254.0	271.0		611	5.4	0.5	17		271	2,8598	2.2+/-6.3	0,2,4298	no	missense	WIPI1	NM_017983.5	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	204/447	66431771	2,13004	2203	4300	6503	63943366	SO:0001583	missense	55062	exon6				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.611C>T	17.37:g.66431771G>A	ENSP00000262139:p.Ala204Val	1091	63943366	NM_017983	Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904826	0.72868	0.0	2.33E-4	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.54866	0.55;2.15	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.102902	0.64402	D	0.000003	T	0.79197	0.4405	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.84038	0.0363	10	0.87932	D	0	-18.845	19.2672	0.93993	0.0:0.0:1.0:0.0	.	204	Q5MNZ9	WIPI1_HUMAN	V	204;122	ENSP00000262139:A204V;ENSP00000437345:A122V	ENSP00000262139:A204V	A	-	2	0	WIPI1	63943366	1.000000	0.71417	0.543000	0.28128	0.137000	0.21094	8.958000	0.93099	2.552000	0.86080	0.555000	0.69702	GCG		0.517	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983	
ABCA8	10351	broad.mit.edu	37	17	66914190	66914190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:66914190G>A	ENST00000269080.2	-	14	2062	c.1925C>T	c.(1924-1926)gCg>gTg	p.A642V	ABCA8_ENST00000430352.2_Missense_Mutation_p.A682V|ABCA8_ENST00000586539.1_Missense_Mutation_p.A682V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	642	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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.A642V(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTGATTACCCGCCAGGATGTC	0.428																																					p.A642V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1925T	17						.						138.0	115.0	123.0					17																	66914190		2203	4300	6503	64425785	SO:0001583	missense	10351	exon14			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.1925C>T	17.37:g.66914190G>A	ENSP00000269080:p.Ala642Val		64425785	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631880	0.87660	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.68903	-0.36;-0.36	4.26	4.26	0.50523	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.141721	0.31660	N	0.007265	T	0.81725	0.4883	M	0.77313	2.365	0.54753	D	0.99998	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;0.996;0.98;0.999;0.995	D	0.84819	0.0795	10	0.87932	D	0	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	621;682;682;682;642	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	V	642;682;621	ENSP00000269080:A642V;ENSP00000402814:A682V	ENSP00000269080:A642V	A	-	2	0	ABCA8	64425785	1.000000	0.71417	0.994000	0.49952	0.676000	0.39594	9.173000	0.94815	2.369000	0.80426	0.643000	0.83706	GCG		0.428	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA9	10350	broad.mit.edu	37	17	67039816	67039816	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:67039816A>G	ENST00000340001.4	-	6	825	c.614T>C	c.(613-615)gTt>gCt	p.V205A	ABCA9_ENST00000495634.1_Missense_Mutation_p.V205A|ABCA9_ENST00000453985.2_Missense_Mutation_p.V205A|ABCA9_ENST00000370732.2_Missense_Mutation_p.V205A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	205					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V205A(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)					TACACCAGTAACTGACATCAG	0.323																																					p.V205A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T614C	17						.						87.0	87.0	87.0					17																	67039816		2203	4300	6503	64551411	SO:0001583	missense	10350	exon6			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.614T>C	17.37:g.67039816A>G	ENSP00000342216:p.Val205Ala		64551411	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629666	0.46944	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.83506	-1.73;-1.73	4.83	4.83	0.62350	.	0.335650	0.21177	N	0.078897	D	0.85035	0.5605	M	0.81497	2.545	0.24595	N	0.99381	B;B	0.23650	0.089;0.032	B;B	0.34418	0.106;0.182	T	0.79014	-0.1976	10	0.56958	D	0.05	.	12.1666	0.54133	1.0:0.0:0.0:0.0	.	205;205	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	A	205;188;205;200	ENSP00000342216:V205A;ENSP00000359767:V205A	ENSP00000342216:V205A	V	-	2	0	ABCA9	64551411	0.172000	0.23043	0.714000	0.30535	0.770000	0.43624	4.937000	0.63513	2.160000	0.67779	0.491000	0.48974	GTT		0.323	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA6	23460	broad.mit.edu	37	17	67084332	67084332	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:67084332C>A	ENST00000284425.2	-	28	3848	c.3674G>T	c.(3673-3675)aGa>aTa	p.R1225I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1225					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1225I(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)					TTTTCGCATTCTTTTCTTTCC	0.328																																					p.R1225I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3674T	17						.						112.0	108.0	109.0					17																	67084332		2203	4300	6503	64595927	SO:0001583	missense	23460	exon28			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.3674G>T	17.37:g.67084332C>A	ENSP00000284425:p.Arg1225Ile		64595927	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	3.930	-0.016268	0.07681	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.86865	-2.18	4.68	0.449	0.16619	.	1.676340	0.04181	N	0.326510	T	0.60907	0.2305	N	0.00465	-1.465	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57277	-0.7839	10	0.14656	T	0.56	.	5.1134	0.14821	0.3615:0.3422:0.2963:0.0	.	1225	Q8N139	ABCA6_HUMAN	I	1225;85	ENSP00000284425:R1225I	ENSP00000284425:R1225I	R	-	2	0	ABCA6	64595927	0.000000	0.05858	0.056000	0.19401	0.769000	0.43574	0.121000	0.15667	0.084000	0.17077	0.462000	0.41574	AGA		0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA6	23460	broad.mit.edu	37	17	67087337	67087337	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:67087337T>C	ENST00000284425.2	-	26	3649	c.3475A>G	c.(3475-3477)Atg>Gtg	p.M1159V	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1159					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.M1159V(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)					ACCAATACCATGGTGGTAATC	0.328																																					p.M1159V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3475G	17						.						90.0	85.0	86.0					17																	67087337		2203	4298	6501	64598932	SO:0001583	missense	23460	exon26			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.3475A>G	17.37:g.67087337T>C	ENSP00000284425:p.Met1159Val		64598932	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	1.243	-0.620783	0.03636	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.87103	-2.21	4.63	3.53	0.40419	.	0.603637	0.15760	N	0.245971	D	0.82540	0.5059	M	0.63843	1.955	0.27270	N	0.958395	B	0.10296	0.003	B	0.16289	0.015	T	0.67436	-0.5671	10	0.16896	T	0.51	.	8.4904	0.33098	0.0:0.0:0.1966:0.8034	.	1159	Q8N139	ABCA6_HUMAN	V	1159;19	ENSP00000284425:M1159V	ENSP00000284425:M1159V	M	-	1	0	ABCA6	64598932	0.737000	0.28175	0.301000	0.25044	0.010000	0.07245	1.205000	0.32308	1.071000	0.40834	-0.316000	0.08728	ATG		0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA6	23460	broad.mit.edu	37	17	67099069	67099069	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:67099069T>G	ENST00000284425.2	-	21	2955	c.2781A>C	c.(2779-2781)caA>caC	p.Q927H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	927					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q927H(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)					AAAGTATATTTTGATGCTTCA	0.289																																					p.Q927H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2781C	17						.						62.0	58.0	59.0					17																	67099069		2202	4294	6496	64610664	SO:0001583	missense	23460	exon21			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.2781A>C	17.37:g.67099069T>G	ENSP00000284425:p.Gln927His		64610664	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694336	0.48202	.	.	ENSG00000154262	ENST00000284425	D	0.86865	-2.18	4.95	0.0891	0.14457	.	0.283868	0.24793	N	0.035554	D	0.92126	0.7504	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88598	0.3148	10	0.87932	D	0	.	5.084	0.14673	0.0:0.2304:0.1434:0.6262	.	927	Q8N139	ABCA6_HUMAN	H	927	ENSP00000284425:Q927H	ENSP00000284425:Q927H	Q	-	3	2	ABCA6	64610664	0.991000	0.36638	0.995000	0.50966	0.572000	0.35998	-0.141000	0.10327	-0.117000	0.11872	0.455000	0.32223	CAA		0.289	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA6	23460	broad.mit.edu	37	17	67114039	67114039	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:67114039C>A	ENST00000284425.2	-	11	1669	c.1495G>T	c.(1495-1497)Ggc>Tgc	p.G499C		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	499	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G499C(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)					TTTTCTTTACCTTTCAATGCT	0.279																																					p.G499C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1495T	17						.						72.0	70.0	70.0					17																	67114039		2203	4300	6503	64625634	SO:0001630	splice_region_variant	23460	exon11			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.1495+1G>T	17.37:g.67114039C>A			64625634	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	De_novo_Start_OutOfFrame	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347248	0.82022	.	.	ENSG00000154262	ENST00000284425	D	0.94613	-3.47	5.37	5.37	0.77165	ABC transporter-like (1);	0.265108	0.26411	N	0.024536	D	0.97567	0.9203	M	0.89478	3.035	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.97830	1.0262	9	.	.	.	.	16.636	0.85060	0.0:1.0:0.0:0.0	.	499	Q8N139	ABCA6_HUMAN	C	499	ENSP00000284425:G499C	.	G	-	1	0	ABCA6	64625634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.737000	0.38197	2.792000	0.96026	0.643000	0.83706	GGC		0.279	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Missense_Mutation
ABCA6	23460	broad.mit.edu	37	17	67136835	67136835	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:67136835T>G	ENST00000284425.2	-	2	184	c.10A>C	c.(10-12)Aaa>Caa	p.K4Q	ABCA6_ENST00000590645.1_Missense_Mutation_p.K4Q	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	4					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K4Q(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)					CTTTTCTGTTTCATATTCATT	0.333																																					p.K4Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10C	17						.						134.0	134.0	134.0					17																	67136835		2203	4299	6502	64648430	SO:0001583	missense	23460	exon2			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.10A>C	17.37:g.67136835T>G	ENSP00000284425:p.Lys4Gln		64648430	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070022	0.76301	.	.	ENSG00000154262	ENST00000284425	D	0.87412	-2.25	5.32	4.16	0.48862	.	0.604578	0.13530	N	0.381039	D	0.89466	0.6723	L	0.44542	1.39	0.09310	N	1	D;P	0.76494	0.999;0.935	D;P	0.71656	0.974;0.756	T	0.79892	-0.1611	10	0.87932	D	0	.	8.8365	0.35115	0.0:0.0:0.1895:0.8105	.	4;4	Q8N139-3;Q8N139	.;ABCA6_HUMAN	Q	4	ENSP00000284425:K4Q	ENSP00000284425:K4Q	K	-	1	0	ABCA6	64648430	0.048000	0.20356	0.004000	0.12327	0.608000	0.37181	1.815000	0.38981	2.135000	0.66039	0.460000	0.39030	AAA		0.333	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA10	10349	broad.mit.edu	37	17	67181655	67181655	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:67181655C>A	ENST00000269081.4	-	21	3369	c.2460G>T	c.(2458-2460)aaG>aaT	p.K820N	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	820					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K820N(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)					TAAGAGGCGTCTTCGGGATTT	0.363																																					p.K820N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2460T	17						.						72.0	73.0	73.0					17																	67181655		2203	4300	6503	64693250	SO:0001583	missense	10349	exon21			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.2460G>T	17.37:g.67181655C>A	ENSP00000269081:p.Lys820Asn		64693250	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768511	0.15983	.	.	ENSG00000154263	ENST00000269081	D	0.87103	-2.21	2.92	-4.58	0.03410	.	0.889929	0.09050	U	0.855945	T	0.70448	0.3225	N	0.14661	0.345	0.09310	N	1	B;B	0.18310	0.027;0.027	B;B	0.22152	0.038;0.026	T	0.55786	-0.8086	10	0.34782	T	0.22	.	3.1928	0.06623	0.3018:0.3419:0.0:0.3563	.	820;820	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	N	820	ENSP00000269081:K820N	ENSP00000269081:K820N	K	-	3	2	ABCA10	64693250	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.409000	0.02483	-0.769000	0.04620	-0.259000	0.10710	AAG		0.363	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
KIAA0753	9851	broad.mit.edu	37	17	6531826	6531826	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:6531826C>A	ENST00000361413.3	-	3	687	c.329G>T	c.(328-330)cGa>cTa	p.R110L	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	110						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R110L(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AAATTGTCTTCGTTTCACATC	0.423																																					p.R110L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329T	17						.						110.0	101.0	104.0					17																	6531826		1907	4132	6039	6472550	SO:0001583	missense	9851	exon3				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.329G>T	17.37:g.6531826C>A	ENSP00000355250:p.Arg110Leu		6472550	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850148	0.91277	.	.	ENSG00000198920	ENST00000361413	T	0.10960	2.82	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04796	-1.0926	10	0.87932	D	0	-10.854	17.4784	0.87667	0.0:1.0:0.0:0.0	.	110	Q2KHM9	K0753_HUMAN	L	110	ENSP00000355250:R110L	ENSP00000355250:R110L	R	-	2	0	KIAA0753	6472550	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.024000	0.49674	2.804000	0.96469	0.655000	0.94253	CGA		0.423	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
ABCA10	10349	broad.mit.edu	37	17	67189970	67189970	+	Missense_Mutation	SNP	C	C	A	rs530742197		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:67189970C>A	ENST00000269081.4	-	14	2415	c.1506G>T	c.(1504-1506)aaG>aaT	p.K502N	ABCA10_ENST00000416101.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	502	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K502N(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)					GTTCCACTTCCTTTGGCTGAA	0.333																																					p.K502N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1506T	17						.						151.0	150.0	150.0					17																	67189970		2203	4300	6503	64701565	SO:0001583	missense	10349	exon14			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.1506G>T	17.37:g.67189970C>A	ENSP00000269081:p.Lys502Asn		64701565	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	9.620	1.133649	0.21123	.	.	ENSG00000154263	ENST00000269081	T	0.39997	1.05	3.62	-7.23	0.01480	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.868069	0.09292	U	0.822121	T	0.18841	0.0452	N	0.25890	0.77	0.09310	N	1	B;B	0.29232	0.238;0.036	B;B	0.29077	0.065;0.098	T	0.23940	-1.0174	10	0.14656	T	0.56	.	2.0404	0.03549	0.1022:0.3245:0.2017:0.3716	.	502;502	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	N	502	ENSP00000269081:K502N	ENSP00000269081:K502N	K	-	3	2	ABCA10	64701565	0.000000	0.05858	0.000000	0.03702	0.839000	0.47603	-4.033000	0.00309	-1.747000	0.01333	-0.262000	0.10625	AAG		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
KCNJ16	3773	broad.mit.edu	37	17	68129306	68129306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:68129306C>T	ENST00000589377.1	+	2	1241	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	KCNJ16_ENST00000585558.1_Nonsense_Mutation_p.R395*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R399*|KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R360*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R360*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R360*	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	360					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.R360*(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)					ACCACCAGTTCGAGAATCCTG	0.512																																					p.R360X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1078T	17						.						110.0	98.0	102.0					17																	68129306		2203	4300	6503	65640901	SO:0001587	stop_gained	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.1078C>T	17.37:g.68129306C>T	ENSP00000465967:p.Arg360*		65640901	NM_018658		Nonsense_Mutation	SNP	ENST00000589377.1	37	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208831	0.95069	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	.	.	.	5.79	3.63	0.41609	.	3.854110	0.00447	N	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1076	0.59255	0.3938:0.6062:0.0:0.0	.	.	.	.	X	360	.	.	R	+	1	2	KCNJ16	65640901	0.005000	0.15991	0.003000	0.11579	0.028000	0.11728	0.378000	0.20569	1.382000	0.46385	0.585000	0.79938	CGA		0.512	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658	
KCNJ2	3759	broad.mit.edu	37	17	68172224	68172224	+	Silent	SNP	C	C	T	rs146330042	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:68172224C>T	ENST00000243457.3	+	2	1427	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	KCNJ2_ENST00000535240.1_Silent_p.Y348Y	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	348					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|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 import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.Y348Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACAAAACTTACGAAGTCCCCA	0.428													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20726	0.0		0.0	False		,,,				2504	0.0				p.Y348Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1044T	17						.	C		12,4394	19.1+/-41.9	0,12,2191	97.0	102.0	100.0		1044	-4.6	0.7	17	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	KCNJ2	NM_000891.2		0,12,6491	TT,TC,CC		0.0,0.2724,0.0923		348/428	68172224	12,12994	2203	4300	6503	65683819	SO:0001819	synonymous_variant	3759	exon2			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.1044C>T	17.37:g.68172224C>T			65683819	NM_000891	O15110|P48049	Silent	SNP	ENST00000243457.3	37	CCDS11688.1																																																																																				0.428	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891	
SOX9	6662	broad.mit.edu	37	17	70118931	70118931	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:70118931A>G	ENST00000245479.2	+	2	875	c.503A>G	c.(502-504)gAc>gGc	p.D168G		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	168					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D168G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACAAGAAGGACCACCCGGAT	0.677																																					p.D168G	Pancreas(42;83 1041 2320 35205 39456)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A503G	17						.						53.0	56.0	55.0					17																	70118931		2203	4300	6503	67630526	SO:0001583	missense	6662	exon2			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.503A>G	17.37:g.70118931A>G	ENSP00000245479:p.Asp168Gly		67630526	NM_000346	Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584639	0.86748	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.94184	-3.37	4.7	3.58	0.41010	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	M	0.89287	3.02	0.80722	D	1	P	0.47484	0.896	P	0.48952	0.596	D	0.94169	0.7421	10	0.87932	D	0	.	11.1834	0.48642	0.8455:0.1545:0.0:0.0	.	168	P48436	SOX9_HUMAN	G	168	ENSP00000245479:D168G	ENSP00000245479:D168G	D	+	2	0	SOX9	67630526	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	9.084000	0.94076	0.615000	0.30124	0.459000	0.35465	GAC		0.677	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
SSTR2	6752	broad.mit.edu	37	17	71165928	71165928	+	Missense_Mutation	SNP	G	G	A	rs201497830		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:71165928G>A	ENST00000357585.2	+	2	839	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.R157Q	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	157					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|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)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|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)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)	p.R157Q(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	AGGAGACCCCGGACGGCCAAG	0.567																																					p.R157Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470A	17						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	68.0	70.0		470	3.5	1.0	17		70	0,8600		0,0,4300	no	missense	SSTR2	NM_001050.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	157/370	71165928	1,13005	2203	4300	6503	68677523	SO:0001583	missense	6752	exon2				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.470G>A	17.37:g.71165928G>A	ENSP00000350198:p.Arg157Gln		68677523	NM_001050	A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158859	0.38119	2.27E-4	0.0	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.41758	0.99;0.99	5.79	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.115838	0.56097	D	0.000023	T	0.36220	0.0959	L	0.43646	1.37	0.49798	D	0.999829	B	0.15930	0.015	B	0.24848	0.056	T	0.18681	-1.0329	10	0.33141	T	0.24	.	12.9839	0.58581	0.1545:0.0:0.8455:0.0	.	157	P30874	SSR2_HUMAN	Q	157	ENSP00000350198:R157Q;ENSP00000326616:R157Q	ENSP00000326616:R157Q	R	+	2	0	SSTR2	68677523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.745000	0.62125	1.452000	0.47756	0.655000	0.94253	CGG		0.567	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1		
COG1	9382	broad.mit.edu	37	17	71193534	71193534	+	Splice_Site	SNP	C	C	T	rs147973539		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:71193534C>T	ENST00000299886.4	+	4	992	c.912C>T	c.(910-912)gcC>gcT	p.A304A	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	304					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.A304A(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)			AGCATCCTGCCGGTGAGCTCT	0.532																																					p.A304A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C912T	17						.	C		1,4405	2.1+/-5.4	0,1,2202	55.0	56.0	55.0		912	-10.4	0.0	17	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous-near-splice	COG1	NM_018714.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		304/981	71193534	1,13005	2203	4300	6503	68705129	SO:0001630	splice_region_variant	9382	exon4				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.913+1C>T	17.37:g.71193534C>T			68705129	NM_018714	Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	CCDS11692.1																																																																																				0.532	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		Silent
COG1	9382	broad.mit.edu	37	17	71203355	71203355	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:71203355G>A	ENST00000299886.4	+	13	2845	c.2765G>A	c.(2764-2766)cGa>cAa	p.R922Q	FAM104A_ENST00000583178.1_5'Flank	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	922					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.R922Q(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)			ACAAGCACTCGAAAGGCTAAA	0.527																																					p.R922Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2765A	17						.						111.0	102.0	105.0					17																	71203355		2203	4300	6503	68714950	SO:0001583	missense	9382	exon13				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.2765G>A	17.37:g.71203355G>A	ENSP00000299886:p.Arg922Gln		68714950	NM_018714	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601942	0.46423	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.27557	1.66;1.68	5.96	5.96	0.96718	.	0.060332	0.64402	D	0.000002	T	0.47154	0.1430	M	0.72894	2.215	0.54753	D	0.999982	D;D;D	0.69078	0.997;0.977;0.997	P;B;P	0.50049	0.629;0.359;0.629	T	0.38222	-0.9671	10	0.46703	T	0.11	-16.52	20.422	0.99049	0.0:0.0:1.0:0.0	.	922;922;922	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	Q	922	ENSP00000400111:R922Q;ENSP00000299886:R922Q	ENSP00000299886:R922Q	R	+	2	0	COG1	68714950	0.997000	0.39634	0.808000	0.32385	0.610000	0.37248	5.781000	0.68964	2.832000	0.97577	0.655000	0.94253	CGA		0.527	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		
CD300LB	124599	broad.mit.edu	37	17	72522107	72522107	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:72522107G>A	ENST00000392621.1	-	2	265	c.261C>T	c.(259-261)tgC>tgT	p.C87C	CD300LB_ENST00000314401.3_Silent_p.C87C	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	50	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C87C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GCACCCCTCGGCACCACCACT	0.547																																					p.C87C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C261T	17						.						194.0	178.0	184.0					17																	72522107		2203	4300	6503	70033702	SO:0001819	synonymous_variant	124599	exon2			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.261C>T	17.37:g.72522107G>A			70033702	NM_174892	Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	CCDS11700.1																																																																																				0.547	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892	
FDXR	2232	broad.mit.edu	37	17	72861052	72861052	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:72861052C>A	ENST00000293195.5	-	7	689	c.611G>T	c.(610-612)aGa>aTa	p.R204I	FDXR_ENST00000544854.1_Splice_Site_p.R152I|FDXR_ENST00000413947.2_Splice_Site_p.R235I|FDXR_ENST00000582944.1_Splice_Site_p.R196I|FDXR_ENST00000581530.1_Missense_Mutation_p.R210I|FDXR_ENST00000442102.2_Splice_Site_p.R247I|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000455107.2_Splice_Site_p.R160I|FDXR_ENST00000420580.2_Splice_Site_p.R164I|FDXR_ENST00000583917.1_Splice_Site_p.R205I	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	204					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)	p.R210I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GATGTCCGTTCTCTGGCACAA	0.607											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611T	17						.						93.0	78.0	83.0					17																	72861052		2203	4300	6503	70372647	SO:0001630	splice_region_variant	2232	exon7			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.610-1G>T	17.37:g.72861052C>A		1140	70372647	NM_024417	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	c	11.97	1.796870	0.31777	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.62	1.9	0.25705	.	0.386696	0.31134	N	0.008188	T	0.60183	0.2249	L	0.47016	1.485	0.31328	N	0.685173	P;B;B;B;B;B;B;B;B;B	0.35821	0.523;0.065;0.001;0.187;0.001;0.004;0.004;0.083;0.004;0.015	B;B;B;B;B;B;B;B;B;B	0.34991	0.193;0.098;0.004;0.032;0.016;0.007;0.012;0.032;0.012;0.062	T	0.62196	-0.6905	10	0.72032	D	0.01	-0.601	8.8048	0.34932	0.0:0.2283:0.0:0.7717	.	164;247;235;202;152;235;204;196;204;210	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	I	164;152;210;160;247;235	ENSP00000414172:R164I;ENSP00000445432:R152I;ENSP00000390875:R160I;ENSP00000416515:R247I;ENSP00000408595:R235I	ENSP00000293195:R210I	R	-	2	0	FDXR	70372647	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	3.044000	0.49830	0.081000	0.16988	-1.086000	0.02197	AGA		0.607	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110	Missense_Mutation
OTOP3	347741	broad.mit.edu	37	17	72945498	72945498	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:72945498A>G	ENST00000328801.4	+	7	1778	c.1778A>G	c.(1777-1779)tAc>tGc	p.Y593C		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	593						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.Y593C(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)					GTGGAGGTCTACCTGGGGGCC	0.602																																					p.Y593C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1778G	17						.						46.0	44.0	45.0					17																	72945498		2203	4300	6503	70457093	SO:0001583	missense	347741	exon7			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.1778A>G	17.37:g.72945498A>G	ENSP00000328090:p.Tyr593Cys		70457093	NM_178233		Missense_Mutation	SNP	ENST00000328801.4	37	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257101	0.59321	.	.	ENSG00000182938	ENST00000328801	T	0.12984	2.63	4.43	4.43	0.53597	.	0.201936	0.34362	N	0.004034	T	0.30665	0.0772	L	0.49350	1.555	0.41244	D	0.986669	D	0.89917	1.0	D	0.91635	0.999	T	0.02546	-1.1143	10	0.51188	T	0.08	-12.1126	13.6886	0.62531	1.0:0.0:0.0:0.0	.	593	Q7RTS5	OTOP3_HUMAN	C	593	ENSP00000328090:Y593C	ENSP00000328090:Y593C	Y	+	2	0	OTOP3	70457093	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	3.856000	0.55964	1.647000	0.50633	0.260000	0.18958	TAC		0.602	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233	
HID1	283987	broad.mit.edu	37	17	72949737	72949737	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:72949737T>G	ENST00000425042.2	-	15	1951	c.1874A>C	c.(1873-1875)aAg>aCg	p.K625T		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	625					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)		p.K625T(1)									CTCGGTCAGCTTGTCAATGCC	0.572																																					p.K625T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1874C	17						.						99.0	85.0	90.0					17																	72949737		2203	4300	6503	70461332	SO:0001583	missense	283987	exon15				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1874A>C	17.37:g.72949737T>G	ENSP00000413520:p.Lys625Thr		70461332	NM_030630	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.714024	0.68730	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	M	0.66506	2.035	0.80722	D	1	B	0.17038	0.02	B	0.29077	0.098	T	0.61903	-0.6967	9	0.40728	T	0.16	-27.7336	13.7442	0.62865	0.0:0.0:0.0:1.0	.	625	Q8IV36	CQ028_HUMAN	T	397;625;397	.	ENSP00000317795:K397T	K	-	2	0	C17orf28	70461332	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.541000	0.82084	1.648000	0.50643	0.397000	0.26171	AAG		0.572	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	
GGA3	23163	broad.mit.edu	37	17	73237073	73237073	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:73237073A>C	ENST00000245541.6	-	11	1228	c.1012T>G	c.(1012-1014)Ttg>Gtg	p.L338V	GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000578348.1_Missense_Mutation_p.L216V|GGA3_ENST00000351904.7_Missense_Mutation_p.L305V|GGA3_ENST00000582717.1_Missense_Mutation_p.L266V|GGA3_ENST00000538886.1_Missense_Mutation_p.L216V|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582486.1_Missense_Mutation_p.L266V	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	338	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.L338V(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ACGGAGGACAAACTGTTGGTC	0.587											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L305V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T913G	17						.						134.0	129.0	131.0					17																	73237073		2203	4300	6503	70748668	SO:0001583	missense	23163	exon10			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1012T>G	17.37:g.73237073A>C	ENSP00000245541:p.Leu338Val	1143	70748668	NM_014001	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	A	4.582	0.108208	0.08780	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.42900	2.27;0.96	5.22	-1.46	0.08800	.	1.043170	0.07574	N	0.919121	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.18610	0.029;0.001;0.007	B;B;B	0.14023	0.01;0.007;0.009	T	0.19745	-1.0296	10	0.28530	T	0.3	-19.257	2.2943	0.04146	0.3828:0.1414:0.3538:0.122	.	216;305;338	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	V	338;305;266;216	ENSP00000245541:L338V;ENSP00000326575:L305V	ENSP00000245541:L338V	L	-	1	2	GGA3	70748668	0.071000	0.21146	0.002000	0.10522	0.005000	0.04900	0.652000	0.24888	-0.149000	0.11215	-0.290000	0.09829	TTG		0.587	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619	
CLDN7	1366	broad.mit.edu	37	17	7164155	7164155	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:7164155T>G	ENST00000360325.7	-	2	807	c.373A>C	c.(373-375)Att>Ctt	p.I125L	CLDN7_ENST00000571881.2_Missense_Mutation_p.N116T|CLDN7_ENST00000397317.4_Missense_Mutation_p.I125L|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000538261.3_Missense_Mutation_p.I125L	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	125					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|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.I125L(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACGATGAAAATTATGCCTCCA	0.582																																					p.I125L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A373C	17						.						131.0	114.0	120.0					17																	7164155		2203	4300	6503	7104879	SO:0001583	missense	1366	exon3			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.373A>C	17.37:g.7164155T>G	ENSP00000353475:p.Ile125Leu		7104879	NM_001185022	B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	ENST00000360325.7	37	CCDS11096.1	.	.	.	.	.	.	.	.	.	.	T	6.893	0.534294	0.13188	.	.	ENSG00000181885	ENST00000360325;ENST00000397317;ENST00000538261	D;D;D	0.89617	-2.54;-2.54;-2.54	4.92	1.04	0.20106	.	0.374908	0.29403	N	0.012249	T	0.73426	0.3585	N	0.11064	0.09	0.23798	N	0.996817	B;B	0.23377	0.001;0.084	B;B	0.24394	0.008;0.053	T	0.58329	-0.7655	10	0.15066	T	0.55	.	7.7015	0.28625	0.0:0.5591:0.0:0.4409	.	125;125	F5H496;O95471	.;CLD7_HUMAN	L	125	ENSP00000353475:I125L;ENSP00000396638:I125L;ENSP00000445131:I125L	ENSP00000353475:I125L	I	-	1	0	CLDN7	7104879	0.166000	0.22962	0.994000	0.49952	0.952000	0.60782	-0.292000	0.08332	0.035000	0.15519	0.383000	0.25322	ATT		0.582	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307	
MIF4GD	57409	broad.mit.edu	37	17	73266204	73266204	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:73266204C>T	ENST00000325102.8	-	2	197	c.73G>A	c.(73-75)Gca>Aca	p.A25T	MIF4GD_ENST00000580571.1_Missense_Mutation_p.A25T|MIF4GD_ENST00000579297.1_Missense_Mutation_p.A25T|MIF4GD_ENST00000578305.1_Missense_Mutation_p.A25T|MIF4GD_ENST00000577542.1_Missense_Mutation_p.A25T|RP11-649A18.12_ENST00000585075.1_RNA|MIF4GD_ENST00000245551.5_Missense_Mutation_p.A25T|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000579119.1_Missense_Mutation_p.A25T	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	25	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A25T(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCTTTGAGTGCTGTCTTCAGC	0.592																																					p.A25T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G73A	17						.						178.0	182.0	181.0					17																	73266204		2203	4300	6503	70777799	SO:0001583	missense	57409	exon2			CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.73G>A	17.37:g.73266204C>T	ENSP00000321625:p.Ala25Thr		70777799	NM_020679	B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661315	0.67700	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	T	0.23348	1.91	5.13	5.13	0.70059	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.62723	1.935	0.41776	D	0.989797	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.40553	-0.9557	10	0.35671	T	0.21	-12.8652	18.21	0.89867	0.0:1.0:0.0:0.0	.	25;25;25	A9UHW6;A9UHW6-2;B4DUM7	MI4GD_HUMAN;.;.	T	25	ENSP00000321625:A25T	ENSP00000245551:A25T	A	-	1	0	MIF4GD	70777799	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.466000	0.80914	2.380000	0.81148	0.455000	0.32223	GCA		0.592	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679	
UNK	85451	broad.mit.edu	37	17	73809210	73809210	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:73809210C>T	ENST00000589666.1	+	5	784	c.674C>T	c.(673-675)cCg>cTg	p.P225L	UNK_ENST00000293218.3_Missense_Mutation_p.P301L	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	225							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P225L(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGAAGCCCCCGCGGCTGTGC	0.632																																					p.P301L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	17						.						21.0	26.0	24.0					17																	73809210		1884	4103	5987	71320805	SO:0001583	missense	85451	exon6			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.674C>T	17.37:g.73809210C>T	ENSP00000464893:p.Pro225Leu		71320805	NM_001080419		Missense_Mutation	SNP	ENST00000589666.1	37	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230069	0.95207	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.84	4.84	0.62591	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80979	-0.1140	9	0.44086	T	0.13	-15.673	18.1613	0.89708	0.0:1.0:0.0:0.0	.	225	Q9C0B0	UNK_HUMAN	L	301	.	ENSP00000293218:P301L	P	+	2	0	UNK	71320805	1.000000	0.71417	0.994000	0.49952	1.000000	0.99986	7.520000	0.81821	2.523000	0.85059	0.655000	0.94253	CCG		0.632	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419	
GPS2	2874	broad.mit.edu	37	17	7217676	7217676	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:7217676T>C	ENST00000380728.2	-	4	551	c.251A>G	c.(250-252)cAc>cGc	p.H84R	NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000389167.5_Missense_Mutation_p.H84R|GPS2_ENST00000391950.3_Missense_Mutation_p.H84R|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	84					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.H84R(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GAAAAGCTGGTGCTTCTCTTC	0.473																																					p.H84R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A251G	17						.						119.0	118.0	119.0					17																	7217676		2203	4300	6503	7158400	SO:0001583	missense	2874	exon4			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.251A>G	17.37:g.7217676T>C	ENSP00000370104:p.His84Arg		7158400	NM_004489	B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462060	0.63513	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T;T	0.28069	1.63;1.63;1.63	4.67	4.67	0.58626	.	0.000000	0.64402	U	0.000002	T	0.42921	0.1224	M	0.76838	2.35	0.80722	D	1	B	0.17038	0.02	B	0.36766	0.232	T	0.48514	-0.9029	10	0.87932	D	0	.	11.7395	0.51784	0.0:0.0:0.0:1.0	.	84	Q13227	GPS2_HUMAN	R	84	ENSP00000438697:H84R;ENSP00000370104:H84R;ENSP00000379841:H84R	ENSP00000319371:H84R	H	-	2	0	GPS2	7158400	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	6.835000	0.75344	1.970000	0.57323	0.533000	0.62120	CAC		0.473	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	
ACOX1	51	broad.mit.edu	37	17	73969742	73969742	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:73969742T>C	ENST00000301608.4	-	3	454	c.394A>G	c.(394-396)Ata>Gta	p.I132V	ACOX1_ENST00000293217.5_Intron|ACOX1_ENST00000537812.1_Intron|ACOX1_ENST00000591857.1_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	132					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.I132V(1)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GTGCCAATTATCTGGAGTCCT	0.502																																					p.I132V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A394G	17						.						106.0	96.0	100.0					17																	73969742		2203	4300	6503	71481337	SO:0001583	missense	51	exon3			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.394A>G	17.37:g.73969742T>C	ENSP00000301608:p.Ile132Val		71481337	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.05|15.05	2.717736|2.717736	0.48622|0.48622	.|.	.|.	ENSG00000161533|ENSG00000161533	ENST00000538781|ENST00000301608	.|T	.|0.56611	.|0.45	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.|.	.|.	.|.	.|.	T|T	0.53286|0.53286	0.1787|0.1787	M|M	0.76002|0.76002	2.32|2.32	0.25186|0.25186	N|N	0.990161|0.990161	B|B	0.11235|0.06786	0.004|0.001	B|B	0.11329|0.18263	0.006|0.021	T|T	0.49588|0.49588	-0.8924|-0.8924	8|9	0.41790|0.52906	T|T	0.15|0.07	-21.7761|-21.7761	9.7374|9.7374	0.40397|0.40397	0.0:0.0769:0.0:0.9231|0.0:0.0769:0.0:0.9231	.|.	10|132	F5H0M0|Q15067	.|ACOX1_HUMAN	G|V	10|132	.|ENSP00000301608:I132V	ENSP00000438771:D10G|ENSP00000301608:I132V	D|I	-|-	2|1	0|0	ACOX1|ACOX1	71481337|71481337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.719000|3.719000	0.54926|0.54926	2.247000|2.247000	0.74100|0.74100	0.523000|0.523000	0.50628|0.50628	GAT|ATA		0.502	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1		
UBE2O	63893	broad.mit.edu	37	17	74391933	74391933	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:74391933G>T	ENST00000319380.7	-	15	2883	c.2819C>A	c.(2818-2820)tCt>tAt	p.S940Y	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	940					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S940F(2)|p.S940Y(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTCTTAAAAGAATGATTTGC	0.542																																					p.S940Y												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C2819A	17						.						86.0	88.0	88.0					17																	74391933		2203	4300	6503	71903528	SO:0001583	missense	63893	exon15			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2819C>A	17.37:g.74391933G>T	ENSP00000323687:p.Ser940Tyr		71903528	NM_022066	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553221	0.27739	.	.	ENSG00000175931	ENST00000319380	T	0.74002	-0.8	4.97	4.97	0.65823	Ubiquitin-conjugating enzyme/RWD-like (1);	0.070853	0.64402	D	0.000020	T	0.63710	0.2534	N	0.19112	0.55	0.50171	D	0.999855	D	0.55385	0.971	P	0.47470	0.548	T	0.63247	-0.6680	10	0.02654	T	1	-10.9526	18.2493	0.89997	0.0:0.0:1.0:0.0	.	940	Q9C0C9	UBE2O_HUMAN	Y	940	ENSP00000323687:S940Y	ENSP00000323687:S940Y	S	-	2	0	UBE2O	71903528	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.797000	0.85911	2.294000	0.77228	0.563000	0.77884	TCT		0.542	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	
POLR2A	5430	broad.mit.edu	37	17	7400189	7400189	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:7400189T>G	ENST00000322644.6	+	5	1043	c.644T>G	c.(643-645)cTg>cGg	p.L215R	POLR2A_ENST00000572844.1_Missense_Mutation_p.L215R	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	215					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)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.L215R(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAGAAGATCCTGCTGAGTCCA	0.562																																					p.L215R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T644G	17						.						117.0	94.0	102.0					17																	7400189		2203	4300	6503	7340913	SO:0001583	missense	5430	exon5					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.644T>G	17.37:g.7400189T>G	ENSP00000314949:p.Leu215Arg		7340913	NM_000937	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904808	0.33628	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.22336	1.96	5.49	5.49	0.81192	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.64402	D	0.000003	T	0.18215	0.0437	N	0.20685	0.6	0.53005	D	0.999961	B;B	0.21309	0.033;0.054	B;B	0.32393	0.145;0.046	T	0.06516	-1.0822	10	0.42905	T	0.14	-7.828	14.5711	0.68210	0.0:0.0:0.0:1.0	.	215;215	P24928;Q6NX41	RPB1_HUMAN;.	R	171;215	ENSP00000314949:L215R	ENSP00000314949:L215R	L	+	2	0	SLC35G6	7340913	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.360000	0.79487	2.089000	0.63090	0.460000	0.39030	CTG		0.562	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
RHBDF2	79651	broad.mit.edu	37	17	74475974	74475974	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:74475974G>A	ENST00000313080.4	-	4	473	c.200C>T	c.(199-201)gCa>gTa	p.A67V	RHBDF2_ENST00000591885.1_Intron|RHBDF2_ENST00000389760.4_Intron|RHBDF2_ENST00000592378.1_Intron	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	67				A -> S (in Ref. 2; BAF84824 and 4; AAH16034). {ECO:0000305}.	negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.A67V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGTGGTGTGTGCAGCCCAGGT	0.552																																					p.A67V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C200T	17						.						31.0	30.0	30.0					17																	74475974		2203	4298	6501	71987569	SO:0001583	missense	79651	exon4			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.200C>T	17.37:g.74475974G>A	ENSP00000322775:p.Ala67Val		71987569	NM_024599	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	G	8.467	0.856668	0.17106	.	.	ENSG00000129667	ENST00000313080	T	0.55413	0.52	4.23	-2.21	0.06973	.	2.935030	0.01893	N	0.038673	T	0.26268	0.0641	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18429	-1.0337	10	0.06625	T	0.88	7.7057	4.0174	0.09650	0.4602:0.0:0.378:0.1617	.	67	Q6PJF5	RHDF2_HUMAN	V	67	ENSP00000322775:A67V	ENSP00000322775:A67V	A	-	2	0	RHBDF2	71987569	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.702000	0.25631	-0.487000	0.06735	-0.182000	0.12963	GCA		0.552	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599	
TNRC6C	57690	broad.mit.edu	37	17	76047514	76047514	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:76047514C>G	ENST00000588061.1	+	5	3098	c.2371C>G	c.(2371-2373)Ccg>Gcg	p.P791A	TNRC6C_ENST00000335749.4_Missense_Mutation_p.P791A|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P791A|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P791A|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P791A|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P791A			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	791	Sufficient for interaction with argonaute family proteins.				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)	p.P791A(1)		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)			GAATCGATCACCGTTGCTTGG	0.463																																					p.P791A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2371G	17						.						12.0	12.0	12.0					17																	76047514		1509	2970	4479	73559109	SO:0001583	missense	57690	exon4			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.2371C>G	17.37:g.76047514C>G	ENSP00000468647:p.Pro791Ala		73559109	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259110	0.39896	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16073	2.48;2.37;2.37;2.48	6.08	5.1	0.69264	.	0.295624	0.37761	N	0.001950	T	0.16300	0.0392	L	0.54323	1.7	0.53005	D	0.999964	B;B;B	0.33345	0.167;0.007;0.409	B;B;B	0.25614	0.048;0.013;0.062	T	0.03374	-1.1043	10	0.20519	T	0.43	-10.8843	15.6887	0.77434	0.0:0.9339:0.0:0.0661	.	791;791;791	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	A	791	ENSP00000336783:P791A;ENSP00000301624:P791A;ENSP00000440310:P791A;ENSP00000442421:P791A	ENSP00000301624:P791A	P	+	1	0	TNRC6C	73559109	0.998000	0.40836	0.536000	0.28039	0.833000	0.47200	3.484000	0.53201	2.894000	0.99253	0.655000	0.94253	CCG		0.463	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
DNAH2	146754	broad.mit.edu	37	17	7664164	7664164	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:7664164G>T	ENST00000572933.1	+	18	4352	c.2892G>T	c.(2890-2892)gaG>gaT	p.E964D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E964D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	964	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.E964D(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)				TGTACCGGGAGATCTGGGAGA	0.532																																					p.E964D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2892T	17						.						172.0	144.0	153.0					17																	7664164		2203	4300	6503	7604889	SO:0001583	missense	146754	exon17			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.2892G>T	17.37:g.7664164G>T	ENSP00000458355:p.Glu964Asp		7604889	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	9.813	1.183633	0.21870	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.38401	1.14	5.55	-6.68	0.01778	.	0.445095	0.24001	N	0.042463	T	0.25568	0.0622	L	0.37800	1.135	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.01670	-1.1299	10	0.34782	T	0.22	.	18.2619	0.90038	0.1692:0.0:0.8308:0.0	.	964	Q9P225	DYH2_HUMAN	D	964	ENSP00000373825:E964D	ENSP00000353818:E964D	E	+	3	2	DNAH2	7604889	0.956000	0.32656	0.495000	0.27527	0.946000	0.59487	-0.021000	0.12504	-1.255000	0.02481	-0.367000	0.07326	GAG		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7722542	7722542	+	Missense_Mutation	SNP	G	G	A	rs373672740		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:7722542G>A	ENST00000572933.1	+	72	12291	c.10831G>A	c.(10831-10833)Gcc>Acc	p.A3611T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3611T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3611					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.A3611T(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)				CCGCCCATGCGCCCAGCGGGC	0.607																																					p.A3611T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10831A	17						.	G	THR/ALA	0,4406		0,0,2203	71.0	58.0	63.0		10831	4.0	0.9	17		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3611/4428	7722542	1,13005	2203	4300	6503	7663267	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.10831G>A	17.37:g.7722542G>A	ENSP00000458355:p.Ala3611Thr		7663267	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591222	0.66219	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.62232	0.04	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	D	0.87414	0.6171	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.948	D	0.92179	0.5750	10	0.87932	D	0	.	13.5202	0.61563	0.0:0.0:1.0:0.0	.	3572;3611	Q9P225-2;Q9P225	.;DYH2_HUMAN	T	3572;3611	ENSP00000373825:A3611T	ENSP00000353818:A3572T	A	+	1	0	DNAH2	7663267	1.000000	0.71417	0.919000	0.36401	0.159000	0.22180	9.017000	0.93651	2.228000	0.72767	0.561000	0.74099	GCC		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
USP36	57602	broad.mit.edu	37	17	76799702	76799702	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:76799702C>T	ENST00000542802.3	-	16	3018	c.2575G>A	c.(2575-2577)Gcc>Acc	p.A859T	USP36_ENST00000312010.6_Missense_Mutation_p.A859T|USP36_ENST00000449938.2_Missense_Mutation_p.A464T			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	859					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.A859T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCCTGCAGGGCGCTGGCAGCT	0.662																																					p.A859T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2575A	17						.						37.0	34.0	35.0					17																	76799702		2203	4300	6503	74311297	SO:0001583	missense	57602	exon16			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2575G>A	17.37:g.76799702C>T	ENSP00000441214:p.Ala859Thr		74311297	NM_025090	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	6.418	0.445293	0.12164	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.18338	3.28;2.22;3.28	4.95	-5.32	0.02722	.	1.852490	0.02120	N	0.055546	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.22871	-1.0204	10	0.12766	T	0.61	0.1435	1.3831	0.02234	0.2333:0.1264:0.1725:0.4679	.	859;859	Q9P275;Q9P275-2	UBP36_HUMAN;.	T	859;464;859	ENSP00000310590:A859T;ENSP00000401119:A464T;ENSP00000441214:A859T	ENSP00000310590:A859T	A	-	1	0	USP36	74311297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.947000	0.01534	-1.538000	0.01734	-0.812000	0.03155	GCC		0.662	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	
BAIAP2	10458	broad.mit.edu	37	17	79031742	79031742	+	Silent	SNP	C	C	T	rs372246311		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:79031742C>T	ENST00000321300.6	+	3	285	c.192C>T	c.(190-192)agC>agT	p.S64S	BAIAP2_ENST00000575712.1_Silent_p.S64S|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Silent_p.S64S|BAIAP2_ENST00000435091.3_Silent_p.S64S|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000575245.1_Silent_p.S97S|BAIAP2_ENST00000321280.7_Silent_p.S64S	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	64	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.S64S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCTGGCCAGCGAGAGCCAGG	0.622																																					p.S64S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192T	17						.	C	,,,	0,4406		0,0,2203	40.0	38.0	39.0		192,192,192,192	-2.7	1.0	17		39	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,,,	64/535,64/521,64/522,64/553	79031742	5,13001	2203	4300	6503	76646337	SO:0001819	synonymous_variant	10458	exon3			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.192C>T	17.37:g.79031742C>T			76646337	NM_006340	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	CCDS11775.1																																																																																				0.622	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1		
CTC1	80169	broad.mit.edu	37	17	8134782	8134782	+	Silent	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:8134782T>A	ENST00000315684.8	-	15	2488	c.2481A>T	c.(2479-2481)ccA>ccT	p.P827P		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	827					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.P827P(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAAACAACATTGGTGTCTGCA	0.512																																					p.P827P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2481T	17						.						45.0	45.0	45.0					17																	8134782		2078	4200	6278	8075507	SO:0001819	synonymous_variant	80169	exon15			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2481A>T	17.37:g.8134782T>A			8075507	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																				0.512	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099	
MYH10	4628	broad.mit.edu	37	17	8424439	8424439	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:8424439G>A	ENST00000269243.4	-	16	2167	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	MYH10_ENST00000379980.4_Missense_Mutation_p.R693C|MYH10_ENST00000396239.1_Missense_Mutation_p.R698C|MYH10_ENST00000360416.3_Missense_Mutation_p.R708C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	677	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R677C(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGATACAACGAACAAAGTTA	0.413																																					p.R677C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2029T	17						.						201.0	193.0	196.0					17																	8424439		2203	4300	6503	8365164	SO:0001583	missense	4628	exon16			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2029C>T	17.37:g.8424439G>A	ENSP00000269243:p.Arg677Cys		8365164	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794999	0.90453	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.93	5.93	0.95920	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97492	0.9179	H	0.98612	4.28	0.80722	D	1	D;P;D	0.76494	0.999;0.923;0.999	D;B;D	0.66716	0.946;0.401;0.946	D	0.98276	1.0506	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	686;708;677	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	677;708;698;693	ENSP00000269243:R677C;ENSP00000353590:R708C;ENSP00000379539:R698C;ENSP00000369315:R693C	ENSP00000269243:R677C	R	-	1	0	MYH10	8365164	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	9.813000	0.99286	2.826000	0.97356	0.655000	0.94253	CGT		0.413	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
PIK3R6	146850	broad.mit.edu	37	17	8726362	8726362	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:8726362A>C	ENST00000311434.9	-	15	1907	c.1668T>G	c.(1666-1668)atT>atG	p.I556M	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	556					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)										CAATGAGGAAAATGTCCTCAG	0.473																																					p.I556M												.	.	0			c.T1668G	17						.						140.0	145.0	144.0					17																	8726362		1934	4142	6076	8667087	SO:0001583	missense	146850	exon15			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.1668T>G	17.37:g.8726362A>C	ENSP00000475670:p.Ile556Met		8667087	NM_001010855	Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.473	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	
RCVRN	5957	broad.mit.edu	37	17	9804316	9804316	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:9804316C>A	ENST00000226193.5	-	2	923	c.483G>T	c.(481-483)aaG>aaT	p.K161N	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	161	EF-hand 4. {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.K161N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CATCATCATTCTTTCCAAAGT	0.428																																					p.K161N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G483T	17						.						113.0	101.0	105.0					17																	9804316		2203	4300	6503	9745041	SO:0001583	missense	5957	exon2			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.483G>T	17.37:g.9804316C>A	ENSP00000226193:p.Lys161Asn		9745041	NM_002903	Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	C	5.779	0.328055	0.10956	.	.	ENSG00000109047	ENST00000226193	T	0.73575	-0.76	5.89	3.88	0.44766	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87293	0.6141	M	0.90198	3.095	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.88209	0.2889	10	0.87932	D	0	.	11.2046	0.48762	0.0:0.8485:0.0:0.1515	.	161	P35243	RECO_HUMAN	N	161	ENSP00000226193:K161N	ENSP00000226193:K161N	K	-	3	2	RCVRN	9745041	0.994000	0.37717	0.999000	0.59377	0.085000	0.17905	0.686000	0.25392	0.809000	0.34255	-0.150000	0.13652	AAG		0.428	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903	
GAS7	8522	broad.mit.edu	37	17	9837520	9837520	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:9837520G>A	ENST00000432992.2	-	9	1008	c.848C>T	c.(847-849)gCg>gTg	p.A283V	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.A219V|GAS7_ENST00000542249.1_Missense_Mutation_p.A219V|GAS7_ENST00000323816.4_Missense_Mutation_p.A223V|GAS7_ENST00000585266.1_Missense_Mutation_p.A223V|GAS7_ENST00000437099.2_Missense_Mutation_p.A219V|GAS7_ENST00000580865.1_Missense_Mutation_p.A143V	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	283	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A283V(2)|p.A143V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGCTTCGTCCGCCAGGCTCTT	0.537			T	MLL	AML*																																p.A143V			Dom	yes		17	17p	8522	growth arrest-specific 7		L	.	.	3	Substitution - Missense(3)	breast(2)|large_intestine(1)	c.C428T	17						.						107.0	78.0	88.0					17																	9837520		2203	4300	6503	9778245	SO:0001583	missense	8522	exon5			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.848C>T	17.37:g.9837520G>A	ENSP00000407552:p.Ala283Val		9778245	NM_003644	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015064	0.54468	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T;T	0.55234	2.23;0.53	4.93	4.93	0.64822	Fps/Fes/Fer/CIP4 homology (3);	0.134081	0.48286	D	0.000185	T	0.55689	0.1936	M	0.66939	2.045	0.53688	D	0.999973	D;D;P;D	0.59357	0.985;0.958;0.695;0.985	P;B;B;P	0.45660	0.489;0.353;0.124;0.489	T	0.59220	-0.7495	9	.	.	.	7.9507	15.1847	0.72989	0.0:0.0:1.0:0.0	.	235;223;143;283	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	V	283;223;222;143;223;97	ENSP00000379421:A223V;ENSP00000410108:A222V	.	A	-	2	0	GAS7	9778245	0.997000	0.39634	0.486000	0.27416	0.731000	0.41821	5.134000	0.64770	2.587000	0.87381	0.655000	0.94253	GCG		0.537	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	
TBCD	6904	broad.mit.edu	37	17	80867170	80867170	+	Missense_Mutation	SNP	C	C	T	rs368782592		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr17:80867170C>T	ENST00000355528.4	+	22	2123	c.1993C>T	c.(1993-1995)Cgt>Tgt	p.R665C	TBCD_ENST00000539345.2_Missense_Mutation_p.R665C	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	665					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.R665C(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCTCTATGATCGTCAGTTATA	0.353																																					p.R665C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1993T	17						.	C	CYS/ARG	1,3635		0,1,1817	43.0	39.0	40.0		1993	4.8	0.1	17		40	0,8046		0,0,4023	no	missense	TBCD	NM_005993.4	180	0,1,5840	TT,TC,CC		0.0,0.0275,0.0086	probably-damaging	665/1193	80867170	1,11681	1818	4023	5841	78460459	SO:0001583	missense	6904	exon22			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1993C>T	17.37:g.80867170C>T	ENSP00000347719:p.Arg665Cys		78460459	NM_005993	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468203	0.63625	2.75E-4	0.0	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000536182	T	0.68765	-0.35	4.82	4.82	0.62117	Armadillo-type fold (1);	0.127011	0.51477	D	0.000083	T	0.80199	0.4579	M	0.83012	2.62	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.515	P;P;B	0.59221	0.719;0.854;0.158	T	0.82661	-0.0347	9	.	.	.	.	15.7328	0.77819	0.0:1.0:0.0:0.0	.	665;665;665	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	C	665;416;665	ENSP00000347719:R665C	.	R	+	1	0	TBCD	78460459	0.959000	0.32827	0.129000	0.21949	0.011000	0.07611	4.385000	0.59613	2.393000	0.81446	0.655000	0.94253	CGT		0.353	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	
TUBB6	84617	broad.mit.edu	37	18	12325539	12325539	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:12325539C>T	ENST00000317702.5	+	4	985	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	251					'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.R251C(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TGCTGACCTGCGCAAGCTGGC	0.677																																					p.R251C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C751T	18						.						60.0	56.0	57.0					18																	12325539		2203	4300	6503	12315539	SO:0001583	missense	84617	exon4			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.751C>T	18.37:g.12325539C>T	ENSP00000318697:p.Arg251Cys		12315539	NM_032525	B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082792	0.55861	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.84873	-1.91	5.18	5.18	0.71444	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.047570	0.85682	D	0.000000	D	0.94165	0.8128	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.95145	0.8267	10	0.87932	D	0	.	19.1304	0.93404	0.0:1.0:0.0:0.0	.	223;251	B4DP54;Q9BUF5	.;TBB6_HUMAN	C	251;179;223	ENSP00000318697:R251C	ENSP00000318697:R251C	R	+	1	0	TUBB6	12315539	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.849000	0.69465	2.604000	0.88044	0.456000	0.33151	CGC		0.677	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525	
AFG3L2	10939	broad.mit.edu	37	18	12337411	12337411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:12337411G>A	ENST00000269143.3	-	16	2335	c.2104C>T	c.(2104-2106)Cga>Tga	p.R702*		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	702			R -> Q (in SCA28). {ECO:0000269|PubMed:20208537}.		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.R702*(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)	ATAAGTATTCGTACTTCATCA	0.418																																					p.R702X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2104T	18						.						127.0	121.0	123.0					18																	12337411		2203	4300	6503	12327411	SO:0001587	stop_gained	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.2104C>T	18.37:g.12337411G>A	ENSP00000269143:p.Arg702*		12327411	NM_006796	Q6P1L0	Nonsense_Mutation	SNP	ENST00000269143.3	37	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	G	40	8.175465	0.98691	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	.	.	.	5.62	3.67	0.42095	.	0.060322	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0987	14.021	0.64555	0.0:0.0:0.7169:0.2831	.	.	.	.	X	702;717	.	ENSP00000269143:R702X	R	-	1	2	AFG3L2	12327411	1.000000	0.71417	0.943000	0.38184	0.920000	0.55202	3.426000	0.52778	1.320000	0.45209	0.655000	0.94253	CGA		0.418	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796	
SPIRE1	56907	broad.mit.edu	37	18	12535482	12535482	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:12535482G>A	ENST00000409402.4	-	4	989	c.722C>T	c.(721-723)gCg>gTg	p.A241V	snoU13_ENST00000459256.1_RNA|SPIRE1_ENST00000410092.3_Missense_Mutation_p.A241V|SPIRE1_ENST00000309836.5_Missense_Mutation_p.A44V|SPIRE1_ENST00000383356.2_Missense_Mutation_p.A82V|SPIRE1_ENST00000453447.2_Missense_Mutation_p.A121V	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.A82V(1)|p.A241V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CACCTCTTTCGCACTCTTAAT	0.373																																					p.A241V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C722T	18						.						150.0	133.0	139.0					18																	12535482		2203	4300	6503	12525482	SO:0001583	missense	56907	exon4			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.722C>T	18.37:g.12535482G>A	ENSP00000387266:p.Ala241Val		12525482	NM_020148		Missense_Mutation	SNP	ENST00000409402.4	37	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547939	0.96488	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356;ENST00000449797	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.77313	2.365	0.80722	D	1	P;D;D	0.89917	0.923;0.984;1.0	P;P;D	0.69824	0.629;0.599;0.966	T	0.70256	-0.4922	10	0.49607	T	0.09	-17.0451	18.8912	0.92406	0.0:0.0:1.0:0.0	.	241;44;241	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	V	121;241;241;44;82;121	ENSP00000407050:A121V;ENSP00000387266:A241V;ENSP00000387226:A241V;ENSP00000309661:A44V;ENSP00000372847:A82V;ENSP00000401392:A121V	ENSP00000309661:A44V	A	-	2	0	SPIRE1	12525482	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	8.497000	0.90488	2.755000	0.94549	0.557000	0.71058	GCG		0.373	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	
CEP192	55125	broad.mit.edu	37	18	13049508	13049508	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:13049508T>G	ENST00000325971.8	+	14	2523	c.930T>G	c.(928-930)agT>agG	p.S310R	CEP192_ENST00000506447.1_Missense_Mutation_p.S906R|CEP192_ENST00000430049.2_Missense_Mutation_p.S431R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	310					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S906R(1)|p.S310R(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATCTGATAGTTATTCATCAG	0.378																																					p.S906R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2718G	18						.						107.0	104.0	105.0					18																	13049508		2203	4300	6503	13039508	SO:0001583	missense	55125	exon16			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.930T>G	18.37:g.13049508T>G	ENSP00000317156:p.Ser310Arg		13039508	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	T	8.315	0.823047	0.16678	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.75050	-0.9;-0.9;-0.9	5.52	1.52	0.23074	.	0.106581	0.42420	D	0.000704	T	0.73768	0.3629	L	0.60455	1.87	0.09310	N	1	P;P;D	0.62365	0.904;0.904;0.991	B;P;P	0.58780	0.408;0.494;0.845	T	0.62817	-0.6774	10	0.48119	T	0.1	-2.0208	1.1726	0.01829	0.1543:0.1665:0.1416:0.5377	.	431;906;310	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	R	906;310;310;431	ENSP00000427550:S906R;ENSP00000317156:S310R;ENSP00000389190:S431R	ENSP00000317156:S310R	S	+	3	2	CEP192	13039508	0.009000	0.17119	0.001000	0.08648	0.006000	0.05464	0.611000	0.24268	0.464000	0.27142	0.528000	0.53228	AGT		0.378	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
RNMT	8731	broad.mit.edu	37	18	13731677	13731677	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:13731677A>G	ENST00000383314.2	+	3	401	c.161A>G	c.(160-162)gAc>gGc	p.D54G	RNMT_ENST00000592764.1_Missense_Mutation_p.D54G|RNMT_ENST00000543302.2_Missense_Mutation_p.D54G|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000262173.3_Missense_Mutation_p.D54G|RNMT_ENST00000589866.1_Missense_Mutation_p.D54G			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	54					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.D54G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AGGCAAGTAGACATAGCAAGA	0.378																																					p.D54G	GBM(29;474 594 19092 36647 41529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A161G	18						.						136.0	149.0	145.0					18																	13731677		2203	4300	6503	13721677	SO:0001583	missense	8731	exon3			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.161A>G	18.37:g.13731677A>G	ENSP00000372804:p.Asp54Gly		13721677	NM_003799	B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	A	3.871	-0.027951	0.07589	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.23	-1.39	0.08997	.	1.048890	0.07424	N	0.894604	T	0.25680	0.0625	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.23976	-1.0173	9	0.30854	T	0.27	-8.0341	4.8367	0.13468	0.458:0.0:0.3939:0.1482	.	54;54	O43148-2;O43148	.;MCES_HUMAN	G	54	.	ENSP00000262173:D54G	D	+	2	0	RNMT	13721677	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.051000	0.14141	0.076000	0.16826	-0.256000	0.11100	GAC		0.378	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799	
ZNF519	162655	broad.mit.edu	37	18	14105588	14105588	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:14105588C>T	ENST00000590202.1	-	3	1103	c.951G>A	c.(949-951)gaG>gaA	p.E317E	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	317					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E317E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGAAAGGCTTCTCTCCAGTAT	0.388																																					p.E317E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G951A	18						.						80.0	82.0	81.0					18																	14105588		2203	4300	6503	14095588	SO:0001819	synonymous_variant	162655	exon3			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.951G>A	18.37:g.14105588C>T			14095588	NM_145287		Silent	SNP	ENST00000590202.1	37	CCDS32797.1																																																																																				0.388	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287	
ESCO1	114799	broad.mit.edu	37	18	19153906	19153906	+	Missense_Mutation	SNP	C	C	T	rs575811331		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:19153906C>T	ENST00000269214.5	-	4	1836	c.899G>A	c.(898-900)cGa>cAa	p.R300Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	300					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R300Q(2)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AATACTACCTCGTTTGCTCTT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		19454	0.0		0.0	False		,,,				2504	0.001				p.R300Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G899A	18						.						87.0	86.0	86.0					18																	19153906		2202	4300	6502	17407904	SO:0001583	missense	114799	exon4			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.899G>A	18.37:g.19153906C>T	ENSP00000269214:p.Arg300Gln		17407904	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776322	0.70107	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.68765	-0.35;1.15	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000093	T	0.77425	0.4128	M	0.66939	2.045	0.40957	D	0.984595	D	0.89917	1.0	D	0.64506	0.926	T	0.79004	-0.1980	10	0.54805	T	0.06	-20.1383	11.9722	0.53069	0.0:0.9208:0.0:0.0792	.	300	Q5FWF5	ESCO1_HUMAN	Q	300	ENSP00000269214:R300Q;ENSP00000372763:R300Q	ENSP00000269214:R300Q	R	-	2	0	ESCO1	17407904	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.500000	0.53318	2.599000	0.87857	0.655000	0.94253	CGA		0.403	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
ESCO1	114799	broad.mit.edu	37	18	19154099	19154099	+	Missense_Mutation	SNP	C	C	T	rs373573118		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:19154099C>T	ENST00000269214.5	-	4	1643	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	236					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.E236K(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GGTTTCGTTTCGTCTCTTCTA	0.428																																					p.E236K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706A	18						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	206.0	199.0	201.0		706	4.3	0.1	18		201	0,8600		0,0,4300	no	missense	ESCO1	NM_052911.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	236/841	19154099	1,13005	2203	4300	6503	17408097	SO:0001583	missense	114799	exon4			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.706G>A	18.37:g.19154099C>T	ENSP00000269214:p.Glu236Lys		17408097	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	1.008	-0.688682	0.03328	2.27E-4	0.0	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.59364	0.27;1.82	4.32	4.32	0.51571	.	0.287192	0.30068	N	0.010483	T	0.45935	0.1367	L	0.54323	1.7	0.09310	N	1	B	0.32731	0.382	B	0.23018	0.043	T	0.46857	-0.9161	10	0.49607	T	0.09	-25.1598	7.8638	0.29524	0.1686:0.6421:0.1893:0.0	.	236	Q5FWF5	ESCO1_HUMAN	K	236	ENSP00000269214:E236K;ENSP00000372763:E236K	ENSP00000269214:E236K	E	-	1	0	ESCO1	17408097	0.039000	0.19947	0.098000	0.21074	0.005000	0.04900	0.593000	0.23999	2.416000	0.81992	0.563000	0.77884	GAA		0.428	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
RBBP8	5932	broad.mit.edu	37	18	20606150	20606150	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:20606150C>T	ENST00000399722.2	+	19	2992	c.2641C>T	c.(2641-2643)Cgt>Tgt	p.R881C	RBBP8_ENST00000360790.5_Missense_Mutation_p.R886C|RBBP8_ENST00000327155.5_Missense_Mutation_p.R881C|RBBP8_ENST00000399725.2_Silent_p.D848D|Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000581687.1_Missense_Mutation_p.R59C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	881					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.R881C(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCCAAAAAGACGTCAGCCTTA	0.368								Homologous recombination																													p.R881C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2641T	18						.						126.0	112.0	117.0					18																	20606150		2203	4300	6503	18860148	SO:0001583	missense	5932	exon19			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2641C>T	18.37:g.20606150C>T	ENSP00000382628:p.Arg881Cys		18860148	NM_203291	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959263	0.34565	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.47528	0.84;0.84;0.84	5.75	5.75	0.90469	.	0.169380	0.51477	D	0.000083	T	0.57140	0.2033	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59359	-0.7469	10	0.87932	D	0	-2.7371	13.8601	0.63554	0.1524:0.8476:0.0:0.0	.	886;881	E7ETY1;Q99708	.;COM1_HUMAN	C	881;881;886	ENSP00000323050:R881C;ENSP00000382628:R881C;ENSP00000354024:R886C	ENSP00000323050:R881C	R	+	1	0	RBBP8	18860148	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	0.917000	0.28665	2.716000	0.92895	0.655000	0.94253	CGT		0.368	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
NPC1	4864	broad.mit.edu	37	18	21118557	21118557	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:21118557C>T	ENST00000269228.5	-	20	3544	c.2990G>A	c.(2989-2991)aGa>aAa	p.R997K	NPC1_ENST00000412552.2_Missense_Mutation_p.R679K|NPC1_ENST00000540608.1_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	997					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.R997K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGGCAGGAATCTCATGAAGTC	0.552																																					p.R997K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2990A	18						.						130.0	133.0	132.0					18																	21118557		2203	4300	6503	19372555	SO:0001583	missense	4864	exon20			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2990G>A	18.37:g.21118557C>T	ENSP00000269228:p.Arg997Lys		19372555	NM_000271	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	4.154	0.027026	0.08054	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.92647	-3.08;-3.0	5.37	1.56	0.23342	.	0.599506	0.19548	N	0.111627	T	0.75946	0.3919	N	0.05177	-0.1	0.23645	N	0.997212	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62234	-0.6897	10	0.02654	T	1	-10.3953	6.0724	0.19897	0.0:0.3267:0.1429:0.5304	.	1008;997	Q59GR1;O15118	.;NPC1_HUMAN	K	997;679	ENSP00000269228:R997K;ENSP00000408606:R679K	ENSP00000269228:R997K	R	-	2	0	NPC1	19372555	0.004000	0.15560	0.940000	0.37924	0.970000	0.65996	0.133000	0.15912	0.080000	0.16959	-0.137000	0.14449	AGA		0.552	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
NPC1	4864	broad.mit.edu	37	18	21134924	21134924	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:21134924C>T	ENST00000269228.5	-	9	1905	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	NPC1_ENST00000412552.2_Missense_Mutation_p.E201K|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	451			E -> K (in NPC1). {ECO:0000269|PubMed:12401890}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.E451K(2)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTAATGTTTTCGATGGCTATT	0.393																																					p.E451K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1351A	18	GRCh37	CM024407	NPC1	M		.						110.0	83.0	92.0					18																	21134924		2203	4300	6503	19388922	SO:0001583	missense	4864	exon9			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1351G>A	18.37:g.21134924C>T	ENSP00000269228:p.Glu451Lys		19388922	NM_000271	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108661	0.37242	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88818	-2.43;-2.43	4.88	4.88	0.63580	.	0.103731	0.64402	D	0.000005	D	0.83801	0.5333	L	0.39147	1.195	0.43069	D	0.994702	B;B	0.21381	0.055;0.055	B;B	0.17098	0.011;0.017	T	0.79495	-0.1780	10	0.09338	T	0.73	-23.645	18.4005	0.90514	0.0:1.0:0.0:0.0	.	462;451	Q59GR1;O15118	.;NPC1_HUMAN	K	451;201;296	ENSP00000269228:E451K;ENSP00000408606:E201K	ENSP00000269228:E451K	E	-	1	0	NPC1	19388922	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.814000	0.69208	2.402000	0.81655	0.655000	0.94253	GAA		0.393	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
LAMA3	3909	broad.mit.edu	37	18	21333703	21333703	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:21333703G>A	ENST00000313654.9	+	6	1115	c.874G>A	c.(874-876)Gac>Aac	p.D292N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D292N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	292	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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.D292N(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)					CAGCATAAAGGACATCAGCAT	0.383																																					p.D292N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G874A	18						.						129.0	124.0	126.0					18																	21333703		1998	4172	6170	19587701	SO:0001583	missense	3909	exon6			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.874G>A	18.37:g.21333703G>A	ENSP00000324532:p.Asp292Asn		19587701	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118697	0.77323	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.79653	-1.29;-1.29	5.33	5.33	0.75918	Laminin, N-terminal (3);	.	.	.	.	D	0.84938	0.5583	M	0.84082	2.675	0.80722	D	1	P;B;B	0.45474	0.859;0.345;0.035	B;B;B	0.43889	0.435;0.273;0.088	D	0.87820	0.2637	9	0.72032	D	0.01	.	19.0189	0.92905	0.0:0.0:1.0:0.0	.	292;292;292	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	N	292;292;290;292	ENSP00000324532:D292N;ENSP00000382432:D292N	ENSP00000324532:D292N	D	+	1	0	LAMA3	19587701	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.930000	0.92872	2.496000	0.84212	0.650000	0.86243	GAC		0.383	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
CABYR	26256	broad.mit.edu	37	18	21736337	21736337	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:21736337T>C	ENST00000399481.2	+	2	730	c.578T>C	c.(577-579)gTt>gCt	p.V193A	CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	291					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)	p.V291A(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ATGTCAACTGTTCATATATCA	0.428																																					p.V273A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T818C	18						.						84.0	81.0	82.0					18																	21736337		2203	4300	6503	19990335	SO:0001583	missense	26256	exon3			AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.578T>C	18.37:g.21736337T>C	ENSP00000382404:p.Val193Ala		19990335	NM_153768	B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000399481.2	37		.	.	.	.	.	.	.	.	.	.	T	7.899	0.733999	0.15574	.	.	ENSG00000154040	ENST00000399481	T	0.24350	1.86	5.74	1.84	0.25277	.	2.896300	0.01024	N	0.004034	T	0.22126	0.0533	L	0.40543	1.245	0.09310	N	1	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.039	T	0.14282	-1.0478	9	.	.	.	0.6805	1.4735	0.02421	0.1408:0.1585:0.146:0.5547	.	273;291	O75952-2;O75952	.;CABYR_HUMAN	A	193	ENSP00000382404:V193A	.	V	+	2	0	CABYR	19990335	0.018000	0.18449	0.001000	0.08648	0.736000	0.42039	0.672000	0.25187	0.071000	0.16664	0.482000	0.46254	GTT		0.428	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770	
ZNF521	25925	broad.mit.edu	37	18	22806200	22806200	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:22806200G>T	ENST00000361524.3	-	4	1830	c.1682C>A	c.(1681-1683)tCt>tAt	p.S561Y	ZNF521_ENST00000538137.2_Missense_Mutation_p.S561Y|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.S341Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	561					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)	p.S561Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATAGGAACAAGAATAGACTTC	0.413			T	PAX5	ALL																																p.S561Y			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1682A	18						.						108.0	112.0	111.0					18																	22806200		2203	4300	6503	21060198	SO:0001583	missense	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1682C>A	18.37:g.22806200G>T	ENSP00000354794:p.Ser561Tyr		21060198	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565460	0.27915	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10477	2.87;2.88	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	L	0.29908	0.895	0.49687	D	0.999819	D	0.71674	0.998	D	0.70487	0.969	T	0.00369	-1.1784	10	0.62326	D	0.03	-21.2478	20.4581	0.99154	0.0:0.0:1.0:0.0	.	561	Q96K83	ZN521_HUMAN	Y	561;595;561	ENSP00000354794:S561Y;ENSP00000382352:S561Y	ENSP00000354794:S561Y	S	-	2	0	ZNF521	21060198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	TCT		0.413	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
PSMA8	143471	broad.mit.edu	37	18	23724532	23724532	+	Nonsense_Mutation	SNP	C	C	T	rs376403017		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:23724532C>T	ENST00000308268.6	+	2	201	c.112C>T	c.(112-114)Cga>Tga	p.R38*	PSMA8_ENST00000343848.6_Nonsense_Mutation_p.R38*|PSMA8_ENST00000415576.2_Nonsense_Mutation_p.R38*	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	38					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.R38*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GGTCGGAATTCGAGGTACCAA	0.338																																					p.R38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C112T	18						.						102.0	106.0	105.0					18																	23724532		2203	4300	6503	21978530	SO:0001587	stop_gained	143471	exon2			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.112C>T	18.37:g.23724532C>T	ENSP00000311121:p.Arg38*		21978530	NM_144662	B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Nonsense_Mutation	SNP	ENST00000308268.6	37	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066864	0.93898	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664	.	.	.	5.41	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4082	8.3034	0.32027	0.1561:0.763:0.0:0.081	.	.	.	.	X	38;38;38;12	.	ENSP00000311121:R38X	R	+	1	2	PSMA8	21978530	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	1.515000	0.35845	0.846000	0.35142	0.655000	0.94253	CGA		0.338	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662	
CHST9	83539	broad.mit.edu	37	18	24496923	24496923	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:24496923T>G	ENST00000284224.8	-	6	909	c.632A>C	c.(631-633)aAa>aCa	p.K211T	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.K211T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	211					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.K211T(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)					GATTTTGTGTTTATCTTCTAC	0.393																																					p.K211T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A632C	18						.						129.0	118.0	121.0					18																	24496923		1875	4103	5978	22750921	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.632A>C	18.37:g.24496923T>G	ENSP00000284224:p.Lys211Thr		22750921	NM_031422	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227398	0.39399	.	.	ENSG00000154080	ENST00000284224	T	0.73897	-0.79	6.16	5.03	0.67393	.	0.069665	0.64402	D	0.000014	T	0.72518	0.3470	L	0.47190	1.495	0.80722	D	1	B	0.29212	0.237	B	0.42386	0.386	T	0.71083	-0.4695	10	0.42905	T	0.14	-28.4773	8.4414	0.32818	0.0:0.1312:0.0:0.8688	.	211	Q7L1S5	CHST9_HUMAN	T	211	ENSP00000284224:K211T	ENSP00000284224:K211T	K	-	2	0	CHST9	22750921	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.636000	0.46545	2.367000	0.80283	0.528000	0.53228	AAA		0.393	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422	
CDH2	1000	broad.mit.edu	37	18	25585876	25585876	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:25585876C>A	ENST00000269141.3	-	6	1207	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	CDH2_ENST00000399380.3_Missense_Mutation_p.D231Y	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	262	Cadherin 1. {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.D262Y(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						GGTCTGTTGTCATTCATGTCA	0.383																																					p.D262Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784T	18						.						147.0	134.0	138.0					18																	25585876		2203	4300	6503	23839874	SO:0001583	missense	1000	exon6			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.784G>T	18.37:g.25585876C>A	ENSP00000269141:p.Asp262Tyr		23839874	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868624	0.91587	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.72051	-0.62;-0.62	5.54	5.54	0.83059	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	H	0.99650	4.68	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63957	0.92;0.866	D	0.95064	0.8198	10	0.87932	D	0	.	19.8377	0.96663	0.0:1.0:0.0:0.0	.	231;262	A8MWK3;P19022	.;CADH2_HUMAN	Y	262;231	ENSP00000269141:D262Y;ENSP00000382312:D231Y	ENSP00000269141:D262Y	D	-	1	0	CDH2	23839874	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.442000	0.80503	2.761000	0.94854	0.655000	0.94253	GAC		0.383	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
DSC3	1825	broad.mit.edu	37	18	28609589	28609589	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:28609589C>T	ENST00000360428.4	-	4	440	c.360G>A	c.(358-360)tcG>tcA	p.S120S	DSC3_ENST00000434452.1_Silent_p.S120S	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	120					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.S120S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTCTTGTCTTCGATACCTGAA	0.403																																					p.S120S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G360A	18						.						109.0	104.0	106.0					18																	28609589		2203	4299	6502	26863587	SO:0001819	synonymous_variant	1825	exon4			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.360G>A	18.37:g.28609589C>T			26863587	NM_001941	A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	CCDS32810.1																																																																																				0.403	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	
DSC1	1823	broad.mit.edu	37	18	28712616	28712616	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:28712616C>A	ENST00000257198.5	-	14	2414	c.2153G>T	c.(2152-2154)aGa>aTa	p.R718I	DSC1_ENST00000257197.3_Missense_Mutation_p.R718I|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	718					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.R718I(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)			CTTGACTGTTCTCTTAGCAGT	0.313																																					p.R718I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2153T	18						.						111.0	104.0	107.0					18																	28712616		2202	4300	6502	26966614	SO:0001583	missense	1823	exon14			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.2153G>T	18.37:g.28712616C>A	ENSP00000257198:p.Arg718Ile		26966614	NM_004948	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770835	0.31320	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.59772	0.24;0.25	5.84	-8.44	0.00950	.	0.442374	0.21330	N	0.076309	T	0.41789	0.1174	L	0.36672	1.1	0.19575	N	0.999964	P;P	0.43542	0.81;0.664	P;B	0.44860	0.462;0.125	T	0.51036	-0.8756	10	0.59425	D	0.04	.	9.1937	0.37215	0.0:0.3861:0.2879:0.326	.	718;718	Q08554;Q9HB00	DSC1_HUMAN;.	I	718	ENSP00000257197:R718I;ENSP00000257198:R718I	ENSP00000257197:R718I	R	-	2	0	DSC1	26966614	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-2.248000	0.01189	-1.751000	0.01326	-0.140000	0.14226	AGA		0.313	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
DSG3	1830	broad.mit.edu	37	18	29041236	29041236	+	Missense_Mutation	SNP	G	G	A	rs370472156		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:29041236G>A	ENST00000257189.4	+	8	943	c.860G>A	c.(859-861)cGa>cAa	p.R287Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	287	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.R287Q(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)			GAATTACTTCGATTTCAAGTA	0.338																																					p.R287Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	18						.						63.0	61.0	62.0					18																	29041236		2203	4299	6502	27295234	SO:0001583	missense	1830	exon8			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.860G>A	18.37:g.29041236G>A	ENSP00000257189:p.Arg287Gln		27295234	NM_001944	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701722	0.48307	.	.	ENSG00000134757	ENST00000257189	T	0.52526	0.66	5.31	4.43	0.53597	Cadherin (3);Cadherin-like (1);	0.000000	0.39759	N	0.001277	T	0.52256	0.1723	L	0.28400	0.85	0.28159	N	0.929054	D	0.71674	0.998	D	0.68353	0.957	T	0.46925	-0.9156	10	0.66056	D	0.02	.	9.1749	0.37105	0.0753:0.0:0.7802:0.1446	.	287	P32926	DSG3_HUMAN	Q	287	ENSP00000257189:R287Q	ENSP00000257189:R287Q	R	+	2	0	DSG3	27295234	0.999000	0.42202	0.982000	0.44146	0.049000	0.14656	3.708000	0.54845	1.356000	0.45884	0.655000	0.94253	CGA		0.338	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
SMCHD1	23347	broad.mit.edu	37	18	2777839	2777839	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:2777839T>G	ENST00000320876.6	+	43	5740	c.5402T>G	c.(5401-5403)tTt>tGt	p.F1801C	snoU13_ENST00000459147.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.F1801C|Y_RNA_ENST00000384307.1_RNA|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1801					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.F1801C(2)|p.F1249C(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAATTGTATTTTAAACCCATT	0.284																																					p.F1801C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T5402G	18						.						37.0	33.0	34.0					18																	2777839		1787	4019	5806	2767839	SO:0001583	missense	23347	exon43			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.5402T>G	18.37:g.2777839T>G	ENSP00000326603:p.Phe1801Cys		2767839	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731628	0.69189	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.85955	-2.05;-2.05	5.32	4.14	0.48551	SMCs flexible hinge (3);	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	L	0.50333	1.59	0.37005	D	0.895457	D	0.76494	0.999	D	0.70487	0.969	D	0.90888	0.4759	10	0.72032	D	0.01	-20.0071	11.3605	0.49640	0.0:0.0728:0.0:0.9272	.	1801	A6NHR9	SMHD1_HUMAN	C	1801	ENSP00000326603:F1801C;ENSP00000261598:F1801C	ENSP00000261598:F1801C	F	+	2	0	SMCHD1	2767839	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.254000	0.72460	2.005000	0.58758	0.482000	0.46254	TTT		0.284	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
SMCHD1	23347	broad.mit.edu	37	18	2778215	2778215	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:2778215C>T	ENST00000320876.6	+	44	5863	c.5525C>T	c.(5524-5526)gCg>gTg	p.A1842V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A1842V|Y_RNA_ENST00000384307.1_RNA|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1842					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.A1842V(2)|p.A1290V(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AATCTGGATGCGGCCAATCAT	0.284																																					p.A1842V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C5525T	18						.						67.0	64.0	65.0					18																	2778215		1798	4067	5865	2768215	SO:0001583	missense	23347	exon44			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.5525C>T	18.37:g.2778215C>T	ENSP00000326603:p.Ala1842Val		2768215	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920640	0.92249	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.85629	-2.01;-2.01	5.27	5.27	0.74061	SMCs flexible hinge (3);	0.058631	0.64402	D	0.000002	D	0.87140	0.6103	N	0.22421	0.69	0.40934	D	0.984413	D	0.76494	0.999	D	0.81914	0.995	D	0.87456	0.2404	10	0.39692	T	0.17	-18.4144	17.0624	0.86550	0.0:1.0:0.0:0.0	.	1842	A6NHR9	SMHD1_HUMAN	V	1842	ENSP00000326603:A1842V;ENSP00000261598:A1842V	ENSP00000261598:A1842V	A	+	2	0	SMCHD1	2768215	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.262000	0.72514	2.450000	0.82876	0.460000	0.39030	GCG		0.284	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
SMCHD1	23347	broad.mit.edu	37	18	2784559	2784559	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:2784559C>T	ENST00000320876.6	+	45	5997	c.5659C>T	c.(5659-5661)Cgg>Tgg	p.R1887W	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1887W|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1887					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.R1887W(2)|p.R1335W(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGATAAACTTCGGGGAATGGT	0.398																																					p.R1887W												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C5659T	18						.						50.0	50.0	50.0					18																	2784559		1802	4076	5878	2774559	SO:0001583	missense	23347	exon45			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.5659C>T	18.37:g.2784559C>T	ENSP00000326603:p.Arg1887Trp		2774559	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288315	0.80803	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27720	1.65;1.66	5.29	5.29	0.74685	.	0.125468	0.52532	D	0.000074	T	0.51635	0.1686	M	0.61703	1.905	0.38284	D	0.942503	D	0.89917	1.0	D	0.77557	0.99	T	0.58014	-0.7711	10	0.87932	D	0	-11.1917	13.0615	0.59010	0.2703:0.7297:0.0:0.0	.	1887	A6NHR9	SMHD1_HUMAN	W	1887	ENSP00000326603:R1887W;ENSP00000261598:R1887W	ENSP00000261598:R1887W	R	+	1	2	SMCHD1	2774559	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	1.957000	0.40392	2.451000	0.82905	0.591000	0.81541	CGG		0.398	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
SLC25A52	147407	broad.mit.edu	37	18	29340259	29340259	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:29340259G>A	ENST00000579441.2	-	1	365	c.366C>T	c.(364-366)ggC>ggT	p.G122G	SLC25A52_ENST00000269205.5_Silent_p.G132G			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	122					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.G122G(1)									CTGCCGCCACGCCATGGGTTG	0.478																																					p.G122G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366T	18						.						131.0	125.0	127.0					18																	29340259		2203	4300	6503	27594257	SO:0001819	synonymous_variant	147407	exon1				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.366C>T	18.37:g.29340259G>A			27594257	NM_001034172		Silent	SNP	ENST00000579441.2	37																																																																																					0.478	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000	
MEP1B	4225	broad.mit.edu	37	18	29790486	29790486	+	Silent	SNP	C	C	T	rs372769516		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:29790486C>T	ENST00000269202.6	+	10	989	c.942C>T	c.(940-942)ttC>ttT	p.F314F	MEP1B_ENST00000581447.1_Silent_p.F314F	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	314	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F314F(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCATGCATTTCGATAGCAGCT	0.403																																					p.F314F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C942T	18						.	C		0,3728		0,0,1864	71.0	63.0	65.0		942	-4.9	0.0	18		65	1,8189		0,1,4094	no	coding-synonymous	MEP1B	NM_005925.2		0,1,5958	TT,TC,CC		0.0122,0.0,0.0084		314/702	29790486	1,11917	1864	4095	5959	28044484	SO:0001819	synonymous_variant	4225	exon10			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.942C>T	18.37:g.29790486C>T			28044484	NM_005925	B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	CCDS45846.1																																																																																				0.403	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
MEP1B	4225	broad.mit.edu	37	18	29795066	29795066	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:29795066A>G	ENST00000269202.6	+	12	1648	c.1601A>G	c.(1600-1602)gAc>gGc	p.D534G	MEP1B_ENST00000581447.1_Missense_Mutation_p.D534G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	534	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D534G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATTTCTGGGACAGGCCTTCT	0.413																																					p.D534G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1601G	18						.						99.0	98.0	98.0					18																	29795066		1837	4089	5926	28049064	SO:0001583	missense	4225	exon12			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1601A>G	18.37:g.29795066A>G	ENSP00000269202:p.Asp534Gly		28049064	NM_005925	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420460	0.83559	.	.	ENSG00000141434	ENST00000269202	T	0.22134	1.97	5.97	5.97	0.96955	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34850	-0.9812	10	0.59425	D	0.04	-29.722	16.43	0.83839	1.0:0.0:0.0:0.0	.	534	Q16820	MEP1B_HUMAN	G	534	ENSP00000269202:D534G	ENSP00000269202:D534G	D	+	2	0	MEP1B	28049064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	2.283000	0.76528	0.533000	0.62120	GAC		0.413	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
KLHL14	57565	broad.mit.edu	37	18	30257204	30257204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:30257204G>A	ENST00000359358.4	-	8	2116	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	560						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R560*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGGCCACTTCGACCCTCCAAA	0.478																																					p.R560X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1678T	18						.						158.0	132.0	141.0					18																	30257204		2203	4300	6503	28511202	SO:0001587	stop_gained	57565	exon8			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1678C>T	18.37:g.30257204G>A	ENSP00000352314:p.Arg560*		28511202	NM_020805	A6NNW1|B4DHA0|Q8WU41	Nonsense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	43	10.192980	0.99357	.	.	ENSG00000197705	ENST00000359358	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	.	.	.	X	560	.	ENSP00000352314:R560X	R	-	1	2	KLHL14	28511202	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.412000	0.97347	2.854000	0.98071	0.655000	0.94253	CGA		0.478	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1		
LPIN2	9663	broad.mit.edu	37	18	2937819	2937819	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:2937819C>T	ENST00000261596.4	-	7	1277	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	347					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.E347K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGAGGAGGTTCGAGAAGCTCT	0.537																																					p.E347K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1039A	18						.						120.0	109.0	113.0					18																	2937819		2203	4300	6503	2927819	SO:0001583	missense	9663	exon7			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1039G>A	18.37:g.2937819C>T	ENSP00000261596:p.Glu347Lys		2927819	NM_014646	A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663778	0.47572	.	.	ENSG00000101577	ENST00000261596	T	0.80824	-1.42	5.74	4.87	0.63330	.	0.763370	0.13610	N	0.375171	T	0.74275	0.3695	L	0.43923	1.385	0.34788	D	0.735464	B	0.20988	0.05	B	0.10450	0.005	T	0.72127	-0.4384	10	0.18276	T	0.48	-6.5249	14.9765	0.71277	0.0:0.8461:0.1539:0.0	.	347	Q92539	LPIN2_HUMAN	K	347	ENSP00000261596:E347K	ENSP00000261596:E347K	E	-	1	0	LPIN2	2927819	0.006000	0.16342	0.015000	0.15790	0.378000	0.30076	0.494000	0.22467	1.414000	0.47017	-0.211000	0.12701	GAA		0.537	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646	
CCDC178	374864	broad.mit.edu	37	18	30847175	30847175	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:30847175A>C	ENST00000383096.3	-	13	1445	c.1263T>G	c.(1261-1263)ttT>ttG	p.F421L	CCDC178_ENST00000579947.1_Missense_Mutation_p.F421L|CCDC178_ENST00000300227.8_Missense_Mutation_p.F421L|CCDC178_ENST00000406524.2_Missense_Mutation_p.F421L|CCDC178_ENST00000583930.1_Missense_Mutation_p.F421L|CCDC178_ENST00000403303.1_Missense_Mutation_p.F421L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.F421L			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	421								p.F421L(1)									CTGCAGCATAAAAATCATTAA	0.308																																					p.F421L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1263G	18						.						66.0	69.0	68.0					18																	30847175		2201	4297	6498	29101173	SO:0001583	missense	374864	exon13			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.1263T>G	18.37:g.30847175A>C	ENSP00000372576:p.Phe421Leu		29101173	NM_198995	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768466	0.31320	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	4.17	4.17	0.49024	.	.	.	.	.	T	0.15955	0.0384	L	0.46157	1.445	0.21355	N	0.999711	P;P;P;P	0.40180	0.705;0.705;0.705;0.705	B;B;B;B	0.41510	0.359;0.359;0.359;0.359	T	0.07009	-1.0795	9	0.10636	T	0.68	-9.0271	9.8996	0.41340	1.0:0.0:0.0:0.0	.	421;421;421;421	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	L	421	ENSP00000385591:F421L;ENSP00000372576:F421L;ENSP00000300227:F421L;ENSP00000385867:F421L;ENSP00000385234:F421L	ENSP00000300227:F421L	F	-	3	2	C18orf34	29101173	0.697000	0.27767	0.267000	0.24556	0.341000	0.28922	2.117000	0.41939	2.105000	0.64084	0.383000	0.25322	TTT		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
ZNF397	84307	broad.mit.edu	37	18	32825306	32825306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:32825306C>T	ENST00000330501.7	+	4	790	c.637C>T	c.(637-639)Cga>Tga	p.R213*	ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000261333.6_Nonsense_Mutation_p.R213*|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	213					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.R213*(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						ACCTTCATTTCGAGGAATTAG	0.428																																					p.R213X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C637T	18						.						68.0	68.0	68.0					18																	32825306		2203	4300	6503	31079304	SO:0001587	stop_gained	84307	exon4			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.637C>T	18.37:g.32825306C>T	ENSP00000331577:p.Arg213*		31079304	NM_032347	Q9BRM2	Nonsense_Mutation	SNP	ENST00000330501.7	37	CCDS45852.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781455	0.70222	.	.	ENSG00000186812	ENST00000261333;ENST00000330501	.	.	.	3.0	-1.41	0.08941	.	1.413030	0.05107	N	0.488144	.	.	.	.	.	.	0.27742	N	0.944466	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	3.8371	0.08899	0.1105:0.5028:0.2369:0.1498	.	.	.	.	X	213	.	ENSP00000261333:R213X	R	+	1	2	ZNF397	31079304	0.000000	0.05858	0.017000	0.16124	0.771000	0.43674	-1.238000	0.02919	-0.299000	0.08909	-0.914000	0.02751	CGA		0.428	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347	
ZSCAN30	100101467	broad.mit.edu	37	18	32833872	32833872	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:32833872C>T	ENST00000420878.3	-	5	1482	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	ZSCAN30_ENST00000333206.5_Missense_Mutation_p.D343N|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	343					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.D343N(1)		large_intestine(5)|lung(3)|urinary_tract(1)	9						CTAACAAGGTCTGAGCTCAAA	0.433																																					p.D343N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1027A	18						.						99.0	90.0	93.0					18																	32833872		1568	3582	5150	31087870	SO:0001583	missense	100101467	exon4			AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.1027G>A	18.37:g.32833872C>T	ENSP00000392371:p.Asp343Asn		31087870	NM_001112734	B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773212	0.31411	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932	T;T	0.07444	3.19;3.19	4.5	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37906	N	0.001898	T	0.02380	0.0073	N	0.02011	-0.69	0.09310	N	0.999997	B	0.28082	0.2	B	0.26202	0.067	T	0.47611	-0.9104	10	0.07990	T	0.79	.	7.9603	0.30068	0.0:0.7116:0.0:0.2884	.	343	Q86W11	ZSC30_HUMAN	N	343;343;278	ENSP00000392371:D343N;ENSP00000329738:D343N	ENSP00000329738:D343N	D	-	1	0	ZSCAN30	31087870	0.000000	0.05858	0.939000	0.37840	0.985000	0.73830	-2.612000	0.00884	0.617000	0.30160	0.643000	0.83706	GAC		0.433	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734	
MYOM1	8736	broad.mit.edu	37	18	3164279	3164279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	
GALNT1	2589	broad.mit.edu	37	18	33257665	33257665	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:33257665G>A	ENST00000269195.5	+	3	528	c.425G>A	c.(424-426)cGc>cAc	p.R142H	GALNT1_ENST00000537549.1_Missense_Mutation_p.R82H	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	142	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R142H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GTCATTAATCGCTCACCAAGA	0.373																																					p.R142H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425A	18						.						138.0	126.0	130.0					18																	33257665		2203	4300	6503	31511663	SO:0001583	missense	2589	exon3				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.425G>A	18.37:g.33257665G>A	ENSP00000269195:p.Arg142His		31511663	NM_020474	Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166112	0.94768	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.59083	0.29;0.29	5.61	5.61	0.85477	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.85370	0.1113	10	0.87932	D	0	.	17.1289	0.86722	0.0:0.0:1.0:0.0	.	142	Q10472	GALT1_HUMAN	H	142;142;82	ENSP00000269195:R142H;ENSP00000440910:R82H	ENSP00000269195:R142H	R	+	2	0	GALNT1	31511663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.642000	0.74329	2.625000	0.88918	0.591000	0.81541	CGC		0.373	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474	
GALNT1	2589	broad.mit.edu	37	18	33289705	33289705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:33289705C>T	ENST00000269195.5	+	11	1754	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.R491*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	551	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)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R551*(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GTGGCTTCTTCGAAACGTCAC	0.448																																					p.R551X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1651T	18						.						66.0	62.0	63.0					18																	33289705		2203	4300	6503	31543703	SO:0001587	stop_gained	2589	exon11				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1651C>T	18.37:g.33289705C>T	ENSP00000269195:p.Arg551*		31543703	NM_020474	Q86TJ7|Q9UM86	Nonsense_Mutation	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	37	6.146288	0.97324	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	.	.	.	5.59	3.77	0.43336	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	12.7595	0.57356	0.3163:0.6837:0.0:0.0	.	.	.	.	X	551;551;491	.	ENSP00000269195:R551X	R	+	1	2	GALNT1	31543703	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.827000	0.48112	0.674000	0.31244	0.637000	0.83480	CGA		0.448	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474	
ELP2	55250	broad.mit.edu	37	18	33740919	33740919	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:33740919T>C	ENST00000358232.6	+	17	1776	c.1713T>C	c.(1711-1713)ttT>ttC	p.F571F	ELP2_ENST00000350494.6_Silent_p.F566F|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000442325.2_Silent_p.F636F|ELP2_ENST00000423854.2_Silent_p.F501F|ELP2_ENST00000351393.6_Silent_p.F545F|ELP2_ENST00000542824.1_Silent_p.F501F	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	571					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.F571F(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATGAAATATTTTGTGTTACTT	0.328																																					p.F571F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1713C	18						.						132.0	125.0	127.0					18																	33740919		2203	4300	6503	31994917	SO:0001819	synonymous_variant	55250	exon17			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1713T>C	18.37:g.33740919T>C			31994917	NM_018255	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	ENST00000358232.6	37	CCDS11918.1																																																																																				0.328	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	
DLGAP1	9229	broad.mit.edu	37	18	3581931	3581931	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:3581931G>A	ENST00000315677.3	-	8	2502	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	DLGAP1_ENST00000400149.3_Missense_Mutation_p.T326M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.T636M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.T636M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.T334M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.T352M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.T636M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.T342M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.T344M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.T320M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.T342M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.T334M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	636					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.T636M(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTGTCCTCCgtggtgacggt	0.498																																					p.T334M												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1001T	18						.						134.0	110.0	118.0					18																	3581931		2203	4300	6503	3571931	SO:0001583	missense	9229	exon5			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1907C>T	18.37:g.3581931G>A	ENSP00000316377:p.Thr636Met		3571931	NM_001003809	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	5.259	0.233259	0.09969	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.12039	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.72;2.73	5.41	5.41	0.78517	.	0.654612	0.16032	N	0.232807	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B;B;P;B;P;P;P;B	0.44344	0.347;0.347;0.462;0.347;0.646;0.833;0.646;0.295	B;B;B;B;B;B;B;B	0.34385	0.051;0.051;0.181;0.031;0.132;0.168;0.132;0.174	T	0.19844	-1.0293	10	0.72032	D	0.01	-4.3349	8.0783	0.30729	0.0854:0.0:0.7554:0.1592	.	636;320;332;342;344;334;636;334	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	M	636;334;352;326;342;320;344;334;636	ENSP00000316377:T636M;ENSP00000383011:T334M;ENSP00000383014:T352M;ENSP00000383013:T326M;ENSP00000383019:T342M;ENSP00000437817:T320M;ENSP00000446312:T344M;ENSP00000383010:T334M;ENSP00000445973:T636M	ENSP00000316377:T636M	T	-	2	0	DLGAP1	3571931	0.932000	0.31603	0.606000	0.28943	0.866000	0.49608	3.578000	0.53892	2.520000	0.84964	0.563000	0.77884	ACG		0.498	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
DLGAP1	9229	broad.mit.edu	37	18	3582185	3582185	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:3582185C>T	ENST00000315677.3	-	8	2248	c.1653G>A	c.(1651-1653)acG>acA	p.T551T	DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000515196.2_Silent_p.T551T|DLGAP1_ENST00000581527.1_Silent_p.T551T|DLGAP1_ENST00000400147.2_Silent_p.T249T|DLGAP1_ENST00000400150.3_Silent_p.T267T|DLGAP1_ENST00000584874.1_Silent_p.T551T|DLGAP1_ENST00000581699.1_Silent_p.T257T|DLGAP1_ENST00000539435.1_Silent_p.T259T|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000400155.1_Silent_p.T257T|DLGAP1_ENST00000400145.2_Silent_p.T249T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	551					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.T551T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGAAAGGTTTCGTGGTAGTTC	0.483																																					p.T249T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G747A	18						.						194.0	177.0	183.0					18																	3582185		2203	4300	6503	3572185	SO:0001819	synonymous_variant	9229	exon5			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1653G>A	18.37:g.3582185C>T			3572185	NM_001003809	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	CCDS11836.1																																																																																				0.483	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
FHOD3	80206	broad.mit.edu	37	18	34289258	34289258	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:34289258G>A	ENST00000359247.4	+	14	1861	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.E813K|FHOD3_ENST00000445677.1_Missense_Mutation_p.E600K|FHOD3_ENST00000257209.4_Missense_Mutation_p.E638K|FHOD3_ENST00000587493.1_3'UTR	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	
SETBP1	26040	broad.mit.edu	37	18	42531078	42531078	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:42531078G>T	ENST00000282030.5	+	4	2069	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	591						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K537N(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)		GACGACCAAAGAAGCAGCCTT	0.532									Schinzel-Giedion syndrome																												p.K591N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1773T	18						.						82.0	80.0	80.0					18																	42531078		2203	4300	6503	40785076	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.1773G>T	18.37:g.42531078G>T	ENSP00000282030:p.Lys591Asn		40785076	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939562	0.52972	.	.	ENSG00000152217	ENST00000282030	T	0.74842	-0.88	6.07	6.07	0.98685	AT hook, DNA-binding motif (1);	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	L	0.34521	1.04	0.48395	D	0.999644	D	0.89917	1.0	D	0.76575	0.988	T	0.82546	-0.0403	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	591	Q9Y6X0	SETBP_HUMAN	N	591	ENSP00000282030:K591N	ENSP00000282030:K591N	K	+	3	2	SETBP1	40785076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.542000	0.60677	2.890000	0.99128	0.650000	0.86243	AAG		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	broad.mit.edu	37	18	42533090	42533090	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:42533090G>A	ENST00000282030.5	+	4	4081	c.3785G>A	c.(3784-3786)aGa>aAa	p.R1262K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1262						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1208K(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)		TGCACGAAAAGATACTCTGGC	0.537									Schinzel-Giedion syndrome																												p.R1262K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3785A	18						.						95.0	87.0	89.0					18																	42533090		2203	4300	6503	40787088	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.3785G>A	18.37:g.42533090G>A	ENSP00000282030:p.Arg1262Lys		40787088	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308158	0.40895	.	.	ENSG00000152217	ENST00000282030	T	0.68025	-0.3	6.17	5.13	0.70059	.	0.161389	0.56097	D	0.000039	T	0.44973	0.1319	N	0.11560	0.145	0.24642	N	0.993564	B	0.06786	0.001	B	0.06405	0.002	T	0.13737	-1.0498	10	0.17369	T	0.5	.	12.7716	0.57423	0.137:0.0:0.863:0.0	.	1262	Q9Y6X0	SETBP_HUMAN	K	1262	ENSP00000282030:R1262K	ENSP00000282030:R1262K	R	+	2	0	SETBP1	40787088	1.000000	0.71417	0.936000	0.37596	0.960000	0.62799	3.741000	0.55090	2.941000	0.99782	0.655000	0.94253	AGA		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SLC14A2	8170	broad.mit.edu	37	18	43219737	43219737	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:43219737C>T	ENST00000255226.6	+	7	1686	c.870C>T	c.(868-870)gtC>gtT	p.V290V	SLC14A2_ENST00000586448.1_Silent_p.V290V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	290					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.V290V(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						CTGTTGGGGTCGGCCAGGTGT	0.527																																					p.V290V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C870T	18						.						162.0	144.0	150.0					18																	43219737		2203	4300	6503	41473735	SO:0001819	synonymous_variant	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.870C>T	18.37:g.43219737C>T			41473735	NM_007163	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
SLC14A2	8170	broad.mit.edu	37	18	43246952	43246952	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:43246952C>T	ENST00000255226.6	+	13	2426	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.S537F|SLC14A2_ENST00000589658.1_Missense_Mutation_p.S14F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	537					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)			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						ACAAACATTTCCAAGACATCC	0.507																																					p.S537F												.	.	0			c.C1610T	18						.						112.0	102.0	105.0					18																	43246952		2203	4300	6503	41500950	SO:0001583	missense	8170	exon13			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.1610C>T	18.37:g.43246952C>T	ENSP00000255226:p.Ser537Phe		41500950	NM_007163	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473866	0.26423	.	.	ENSG00000132874	ENST00000255226	T	0.35789	1.29	4.24	4.24	0.50183	.	0.597682	0.14974	N	0.287656	T	0.39784	0.1091	L	0.56769	1.78	0.26588	N	0.973247	P	0.34837	0.472	B	0.39738	0.308	T	0.38478	-0.9659	10	0.62326	D	0.03	-16.6145	11.443	0.50107	0.1807:0.8193:0.0:0.0	.	537	Q15849	UT2_HUMAN	F	537	ENSP00000255226:S537F	ENSP00000255226:S537F	S	+	2	0	SLC14A2	41500950	0.010000	0.17322	0.201000	0.23476	0.187000	0.23431	2.088000	0.41663	2.180000	0.69256	0.561000	0.74099	TCC		0.507	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
EPG5	57724	broad.mit.edu	37	18	43532513	43532513	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:43532513C>T	ENST00000282041.5	-	3	1139	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	369					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.D369N(2)		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						GATTTGGCATCGAATAGCTTC	0.438																																					p.D369N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1105A	18						.						98.0	99.0	99.0					18																	43532513		1916	4131	6047	41786511	SO:0001583	missense	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.1105G>A	18.37:g.43532513C>T	ENSP00000282041:p.Asp369Asn		41786511	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042318	0.35989	.	.	ENSG00000152223	ENST00000282041	T	0.80738	-1.41	5.59	5.59	0.84812	.	0.616477	0.18140	N	0.150451	T	0.71762	0.3378	L	0.36672	1.1	0.34753	D	0.731983	P;P	0.48230	0.907;0.907	B;B	0.34138	0.176;0.176	T	0.77509	-0.2561	10	0.30078	T	0.28	-12.7407	19.9595	0.97236	0.0:1.0:0.0:0.0	.	369;369	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	N	369	ENSP00000282041:D369N	ENSP00000282041:D369N	D	-	1	0	EPG5	41786511	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	4.351000	0.59398	2.797000	0.96272	0.563000	0.77884	GAT		0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
ST8SIA5	29906	broad.mit.edu	37	18	44268751	44268751	+	Missense_Mutation	SNP	C	C	T	rs562529853		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:44268751C>T	ENST00000315087.7	-	4	1103	c.443G>A	c.(442-444)cGc>cAc	p.R148H	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R184H|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R117H|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	148					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.R148H(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGGAAACATGCGGAAGATCTC	0.592																																					p.R148H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443A	18						.						172.0	151.0	158.0					18																	44268751		2203	4300	6503	42522749	SO:0001583	missense	29906	exon4			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.443G>A	18.37:g.44268751C>T	ENSP00000321343:p.Arg148His		42522749	NM_013305	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608737	0.66558	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.30981	1.51;1.51;1.51	5.59	3.77	0.43336	.	0.147262	0.45867	D	0.000326	T	0.21921	0.0528	N	0.25245	0.725	0.29493	N	0.85551	P;B;P	0.49253	0.811;0.1;0.921	P;B;P	0.45276	0.461;0.075;0.475	T	0.05131	-1.0904	10	0.35671	T	0.21	-5.59	8.3607	0.32357	0.0:0.6719:0.0:0.3281	.	117;184;148	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	H	148;184;117	ENSP00000321343:R148H;ENSP00000445492:R184H;ENSP00000443683:R117H	ENSP00000321343:R148H	R	-	2	0	ST8SIA5	42522749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.340000	0.43974	0.693000	0.31634	0.561000	0.74099	CGC		0.592	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
PIAS2	9063	broad.mit.edu	37	18	44400988	44400988	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:44400988G>A	ENST00000585916.1	-	12	1555	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	PIAS2_ENST00000545673.1_Missense_Mutation_p.S229L|PIAS2_ENST00000324794.7_Missense_Mutation_p.S519L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	519					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S519L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AGGATCAACCGAAGTCACACT	0.448																																					p.S519L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1556T	18						.						222.0	190.0	201.0					18																	44400988		2203	4300	6503	42654986	SO:0001583	missense	9063	exon12			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1556C>T	18.37:g.44400988G>A	ENSP00000465676:p.Ser519Leu		42654986	NM_173206	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192791	0.58017	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.46063	0.88;1.45	5.76	4.88	0.63580	.	0.485781	0.22326	N	0.061533	T	0.36441	0.0967	L	0.36672	1.1	0.80722	D	1	B;B;B	0.28082	0.2;0.148;0.012	B;B;B	0.26969	0.075;0.039;0.002	T	0.21965	-1.0230	10	0.72032	D	0.01	-0.1011	15.2294	0.73374	0.0:0.266:0.734:0.0	.	229;519;519	B4DGW0;O75928-2;O75928	.;.;PIAS2_HUMAN	L	519;519;229;519	ENSP00000443238:S229L;ENSP00000317163:S519L	ENSP00000262161:S519L	S	-	2	0	PIAS2	42654986	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.657000	0.67996	1.421000	0.47157	0.650000	0.86243	TCG		0.448	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671	
CTIF	9811	broad.mit.edu	37	18	46383959	46383959	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:46383959C>T	ENST00000256413.3	+	11	1823	c.1528C>T	c.(1528-1530)Ctc>Ttc	p.L510F	CTIF_ENST00000382998.4_Splice_Site_p.L512F	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	510	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.L510F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TCTTCCACAGCTCTTGCAATC	0.597																																					p.L512F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1534T	18						.						185.0	155.0	165.0					18																	46383959		2203	4300	6503	44637957	SO:0001630	splice_region_variant	9811	exon12			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1528-1C>T	18.37:g.46383959C>T			44637957	NM_001142397	B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177342	0.78564	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.36878	1.23;1.23	5.46	4.47	0.54385	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.73217	2.22	0.51233	D	0.999916	D;D	0.89917	0.999;1.0	D;D	0.77557	0.987;0.99	T	0.53107	-0.8485	9	.	.	.	-29.484	6.8566	0.24044	0.0:0.7953:0.0:0.2047	.	512;510	O43310-2;O43310	.;CTIF_HUMAN	F	510;512;462	ENSP00000256413:L510F;ENSP00000372459:L512F	.	L	+	1	0	CTIF	44637957	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.249000	0.51437	2.565000	0.86533	0.561000	0.74099	CTC		0.597	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772	Missense_Mutation
LIPG	9388	broad.mit.edu	37	18	47095890	47095890	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:47095890C>T	ENST00000261292.4	+	4	821	c.543C>T	c.(541-543)ttC>ttT	p.F181F	LIPG_ENST00000580036.1_Silent_p.F181F|LIPG_ENST00000427224.2_Silent_p.F181F|LIPG_ENST00000577628.1_Silent_p.F217F	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	181					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.F181F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CAGGCAACTTCGTGAAAGGAA	0.552																																					p.F181F	Pancreas(126;280 1778 12814 26243 34948)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543T	18						.						60.0	48.0	52.0					18																	47095890		2203	4300	6503	45349888	SO:0001819	synonymous_variant	9388	exon4			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.543C>T	18.37:g.47095890C>T			45349888	NM_006033	B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	CCDS11938.1																																																																																				0.552	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033	
SMAD4	4089	broad.mit.edu	37	18	48573610	48573610	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:48573610G>A	ENST00000342988.3	+	2	732	c.194G>A	c.(193-195)gGa>gAa	p.G65E	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.G65E|SMAD4_ENST00000398417.2_Missense_Mutation_p.G65E|SMAD4_ENST00000588745.1_Missense_Mutation_p.G65E	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	65	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)|p.G65E(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACTACAAATGGAGCTCATCCT	0.353																																					p.G65E												.	.	42	Whole gene deletion(36)|Unknown(5)|Substitution - Missense(1)	pancreas(26)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)	c.G194A	18						.						120.0	131.0	128.0					18																	48573610		2203	4300	6503	46827608	SO:0001583	missense	4089	exon2			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.194G>A	18.37:g.48573610G>A	ENSP00000341551:p.Gly65Glu		46827608	NM_005359	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821624	0.90873	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.74106	-0.81;-0.81;-0.81	5.64	5.64	0.86602	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91368	0.5117	10	0.87932	D	0	.	18.4607	0.90737	0.0:0.0:1.0:0.0	.	65	Q13485	SMAD4_HUMAN	E	65	ENSP00000409551:G65E;ENSP00000341551:G65E;ENSP00000381452:G65E	ENSP00000341551:G65E	G	+	2	0	SMAD4	46827608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	2.657000	0.90304	0.655000	0.94253	GGA		0.353	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SMAD4	4089	broad.mit.edu	37	18	48575206	48575206	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:48575206G>A	ENST00000342988.3	+	3	938	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.E134K|SMAD4_ENST00000398417.2_Missense_Mutation_p.E134K|SMAD4_ENST00000588745.1_Missense_Mutation_p.E134K	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	134	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)|p.E134K(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATATCACTACGAACGAGTTGT	0.338																																					p.E134K												.	.	41	Whole gene deletion(36)|Unknown(4)|Substitution - Missense(1)	pancreas(26)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	c.G400A	18						.						129.0	116.0	120.0					18																	48575206		2203	4300	6503	46829204	SO:0001583	missense	4089	exon3			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.400G>A	18.37:g.48575206G>A	ENSP00000341551:p.Glu134Lys		46829204	NM_005359	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876134	0.91664	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.76316	-1.01;-0.79;-0.79	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	L	0.53561	1.675	0.80722	D	1	D	0.61080	0.989	P	0.50570	0.644	T	0.75368	-0.3342	10	0.17832	T	0.49	.	18.1041	0.89515	0.0:0.0:1.0:0.0	.	134	Q13485	SMAD4_HUMAN	K	134	ENSP00000409551:E134K;ENSP00000341551:E134K;ENSP00000381452:E134K	ENSP00000341551:E134K	E	+	1	0	SMAD4	46829204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.995000	0.88328	2.540000	0.85666	0.585000	0.79938	GAA		0.338	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
DCC	1630	broad.mit.edu	37	18	50831997	50831997	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:50831997T>G	ENST00000442544.2	+	13	2577	c.1961T>G	c.(1960-1962)tTt>tGt	p.F654C	DCC_ENST00000412726.1_Missense_Mutation_p.F502C|DCC_ENST00000581580.1_Missense_Mutation_p.F309C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	654	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.F654C(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAAAATGGATTTATTACCGGC	0.418																																					p.F654C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1961G	18						.						67.0	76.0	73.0					18																	50831997		2203	4300	6503	49085995	SO:0001583	missense	1630	exon13			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1961T>G	18.37:g.50831997T>G	ENSP00000389140:p.Phe654Cys		49085995	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958274	0.34565	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56776	0.44;0.44	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.066272	0.64402	D	0.000009	T	0.58991	0.2161	L	0.31578	0.945	0.40114	D	0.976528	P;P;P	0.45634	0.752;0.752;0.863	P;P;P	0.60236	0.871;0.871;0.871	T	0.58758	-0.7580	10	0.38643	T	0.18	.	15.0365	0.71751	0.0:0.0:0.0:1.0	.	502;502;654	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	C	654;587;502	ENSP00000389140:F654C;ENSP00000397322:F502C	ENSP00000304146:F587C	F	+	2	0	DCC	49085995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.239000	0.73571	0.533000	0.62120	TTT		0.418	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
STARD6	147323	broad.mit.edu	37	18	51858192	51858192	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:51858192G>A	ENST00000581310.1	-	7	678	c.305C>T	c.(304-306)gCc>gTc	p.A102V	STARD6_ENST00000580990.2_Silent_p.C9C|STARD6_ENST00000307844.3_Missense_Mutation_p.A102V			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	102	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.A102V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGAGCCCACGGCAAAACTTTG	0.363																																					p.A102V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C305T	18						.						107.0	100.0	102.0					18																	51858192		2203	4300	6503	50112190	SO:0001583	missense	147323	exon4			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.305C>T	18.37:g.51858192G>A	ENSP00000462349:p.Ala102Val		50112190	NM_139171		Missense_Mutation	SNP	ENST00000581310.1	37	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150165	0.78001	.	.	ENSG00000174448	ENST00000307844	T	0.43688	0.94	5.89	4.97	0.65823	Lipid-binding START (3);START-like domain (1);	0.094831	0.43110	D	0.000603	T	0.58323	0.2114	M	0.69823	2.125	0.35357	D	0.787858	D	0.89917	1.0	D	0.73708	0.981	T	0.60214	-0.7307	10	0.16896	T	0.51	.	12.1921	0.54277	0.0:0.1712:0.8287:0.0	.	102	P59095	STAR6_HUMAN	V	102	ENSP00000310814:A102V	ENSP00000310814:A102V	A	-	2	0	STARD6	50112190	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.148000	0.50647	2.791000	0.96007	0.609000	0.83330	GCC		0.363	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171	
WDR7	23335	broad.mit.edu	37	18	54349931	54349931	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:54349931A>G	ENST00000254442.3	+	5	578	c.367A>G	c.(367-369)Aat>Gat	p.N123D	WDR7_ENST00000357574.3_Missense_Mutation_p.N123D|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	123					hematopoietic progenitor cell differentiation (GO:0002244)			p.N123D(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTCTGTTGGGAATCAGCGAGA	0.373																																					p.N123D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A367G	18						.						163.0	149.0	154.0					18																	54349931		2203	4300	6503	52500929	SO:0001583	missense	23335	exon5			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.367A>G	18.37:g.54349931A>G	ENSP00000254442:p.Asn123Asp		52500929	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.409158	0.42715	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.04706	3.57;3.57	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.210260	0.49305	D	0.000158	T	0.05044	0.0135	L	0.27053	0.805	0.35494	D	0.799198	B;B	0.12630	0.002;0.006	B;B	0.17433	0.018;0.01	T	0.34030	-0.9845	10	0.35671	T	0.21	.	14.7891	0.69827	1.0:0.0:0.0:0.0	.	123;123	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	D	123	ENSP00000254442:N123D;ENSP00000350187:N123D	ENSP00000254442:N123D	N	+	1	0	WDR7	52500929	0.998000	0.40836	0.997000	0.53966	0.971000	0.66376	5.002000	0.63952	2.048000	0.60808	0.460000	0.39030	AAT		0.373	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
WDR7	23335	broad.mit.edu	37	18	54361947	54361947	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:54361947T>G	ENST00000254442.3	+	10	1275	c.1064T>G	c.(1063-1065)aTt>aGt	p.I355S	WDR7_ENST00000357574.3_Missense_Mutation_p.I355S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	355					hematopoietic progenitor cell differentiation (GO:0002244)			p.I355S(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTTGAATATTTGGAACATA	0.328																																					p.I355S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1064G	18						.						90.0	89.0	90.0					18																	54361947		2203	4300	6503	52512945	SO:0001583	missense	23335	exon10			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1064T>G	18.37:g.54361947T>G	ENSP00000254442:p.Ile355Ser		52512945	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374759	0.61735	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.56611	0.45;0.45	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.131508	0.56097	D	0.000033	T	0.57198	0.2037	L	0.50333	1.59	0.54753	D	0.999983	B;B	0.28400	0.21;0.09	B;B	0.40602	0.334;0.046	T	0.60647	-0.7222	10	0.87932	D	0	.	15.1529	0.72717	0.0:0.0:0.0:1.0	.	355;355	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	355	ENSP00000254442:I355S;ENSP00000350187:I355S	ENSP00000254442:I355S	I	+	2	0	WDR7	52512945	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.594000	0.82698	2.072000	0.62099	0.477000	0.44152	ATT		0.328	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
ATP8B1	5205	broad.mit.edu	37	18	55362763	55362763	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:55362763C>A	ENST00000283684.4	-	8	699	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	ATP8B1_ENST00000536015.1_Splice_Site_p.E234*|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000589147.1_5'Flank			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	234					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E234*(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAATTGGTTTCTCTAAAGGAA	0.333																																					p.E234X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G700T	18						.						97.0	91.0	93.0					18																	55362763		2203	4298	6501	53513761	SO:0001630	splice_region_variant	5205	exon9			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.699-1G>T	18.37:g.55362763C>A			53513761	NM_005603	Q9BTP8	Nonsense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	37	6.022033	0.97211	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.298	0.94131	0.0:1.0:0.0:0.0	.	.	.	.	X	234	.	ENSP00000283684:E234X	E	-	1	0	ATP8B1	53513761	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.557000	0.60782	2.906000	0.99361	0.655000	0.94253	GAA		0.333	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	Nonsense_Mutation
NEDD4L	23327	broad.mit.edu	37	18	55990492	55990492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:55990492C>T	ENST00000400345.3	+	8	722	c.439C>T	c.(439-441)Cga>Tga	p.R147*	NEDD4L_ENST00000357895.5_Nonsense_Mutation_p.R139*|NEDD4L_ENST00000435432.2_Nonsense_Mutation_p.R26*|NEDD4L_ENST00000256830.9_Nonsense_Mutation_p.R147*|NEDD4L_ENST00000256832.7_Nonsense_Mutation_p.R26*|NEDD4L_ENST00000456173.2_Nonsense_Mutation_p.R26*|NEDD4L_ENST00000356462.6_Nonsense_Mutation_p.R147*|NEDD4L_ENST00000431212.2_Nonsense_Mutation_p.R26*|NEDD4L_ENST00000456986.1_Nonsense_Mutation_p.R26*|NEDD4L_ENST00000586263.1_Nonsense_Mutation_p.R139*|NEDD4L_ENST00000382850.4_Nonsense_Mutation_p.R147*|NEDD4L_ENST00000589054.1_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	147					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.R147*(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GGGATTTTTGCGATTGAAAAT	0.433																																					p.R147X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C439T	18						.						86.0	87.0	87.0					18																	55990492		1952	4153	6105	54141472	SO:0001587	stop_gained	23327	exon8			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.439C>T	18.37:g.55990492C>T	ENSP00000383199:p.Arg147*		54141472	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Nonsense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	40	8.387907	0.98789	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.09	0.782	0.18567	.	0.164448	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8288	0.70132	0.7612:0.2387:0.0:0.0	.	.	.	.	X	147;147;147;147;26;26;139;26;26;26	.	ENSP00000256830:R147X	R	+	1	2	NEDD4L	54141472	1.000000	0.71417	0.987000	0.45799	0.823000	0.46562	1.755000	0.38379	0.132000	0.18615	0.650000	0.86243	CGA		0.433	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
ALPK2	115701	broad.mit.edu	37	18	56247733	56247733	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:56247733G>T	ENST00000361673.3	-	4	488	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	92	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S92Y(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						CATTCCAAAAGAGTTTTTAGC	0.433																																					p.S92Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C275A	18						.						134.0	125.0	128.0					18																	56247733		1912	4120	6032	54398713	SO:0001583	missense	115701	exon4			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.275C>A	18.37:g.56247733G>T	ENSP00000354991:p.Ser92Tyr		54398713	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462936	0.26248	.	.	ENSG00000198796	ENST00000361673	T	0.70282	-0.47	5.92	0.982	0.19762	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71617	0.3361	M	0.83774	2.66	0.09310	N	1	P	0.45634	0.863	B	0.42771	0.397	T	0.62849	-0.6767	9	0.72032	D	0.01	0.9136	8.222	0.31547	0.0:0.4917:0.3708:0.1375	.	92	Q86TB3	ALPK2_HUMAN	Y	92	ENSP00000354991:S92Y	ENSP00000354991:S92Y	S	-	2	0	ALPK2	54398713	0.000000	0.05858	0.000000	0.03702	0.636000	0.38137	0.096000	0.15147	-0.101000	0.12219	-0.499000	0.04595	TCT		0.433	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
MALT1	10892	broad.mit.edu	37	18	56414742	56414742	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:56414742T>C	ENST00000348428.3	+	17	2401	c.2143T>C	c.(2143-2145)Tta>Cta	p.L715L	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.L704L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	715					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.L704L(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CATTGCTAAATTAGACATGCA	0.433			T	BIRC3	MALT																																p.L704L			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2110C	18						.						158.0	158.0	158.0					18																	56414742		2203	4300	6503	54565722	SO:0001819	synonymous_variant	10892	exon16				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.2143T>C	18.37:g.56414742T>C			54565722	NM_173844	Q9NTB7|Q9ULX4	Silent	SNP	ENST00000348428.3	37	CCDS11967.1																																																																																				0.433	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
CCBE1	147372	broad.mit.edu	37	18	57147461	57147461	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:57147461G>A	ENST00000439986.4	-	3	259	c.222C>T	c.(220-222)tgC>tgT	p.C74C	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	74					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.C74C(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)				ATCCTTTGCAGCACTTTTTCC	0.279																																					p.C74C	NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222T	18						.						47.0	49.0	49.0					18																	57147461		2202	4288	6490	55298441	SO:0001819	synonymous_variant	147372	exon3			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.222C>T	18.37:g.57147461G>A			55298441	NM_133459	Q6MZX5|Q86SS2|Q8TF19	Silent	SNP	ENST00000439986.4	37	CCDS32838.1																																																																																				0.279	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	
KIAA1468	57614	broad.mit.edu	37	18	59954690	59954690	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:59954690T>C	ENST00000398130.2	+	26	3592	c.3360T>C	c.(3358-3360)ctT>ctC	p.L1120L	KIAA1468_ENST00000256858.6_Silent_p.L1154L	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1120								p.L1120L(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACAGTGCACTTTCCTGTTGTT	0.358																																					p.L1120L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3360C	18						.						189.0	167.0	174.0					18																	59954690		2203	4299	6502	58105670	SO:0001819	synonymous_variant	57614	exon26			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3360T>C	18.37:g.59954690T>C			58105670	NM_020854		Silent	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																				0.358	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854	
TMEM200C	645369	broad.mit.edu	37	18	5890370	5890370	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:5890370C>T	ENST00000581347.2	-	3	2338	c.1693G>A	c.(1693-1695)Gcc>Acc	p.A565T	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A565T|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	565						integral component of membrane (GO:0016021)		p.A565T(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AGAACGGGGGCGGCCACAGCA	0.657																																					p.A565T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1693A	18						.						24.0	27.0	26.0					18																	5890370		1882	4098	5980	5880370	SO:0001583	missense	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.1693G>A	18.37:g.5890370C>T	ENSP00000463375:p.Ala565Thr		5880370	NM_001080209		Missense_Mutation	SNP	ENST00000581347.2	37	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063962	0.36373	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.62	0.882	0.19172	.	.	.	.	.	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.22591	-1.0212	8	0.33141	T	0.24	.	7.1685	0.25704	0.0:0.5221:0.0:0.4779	.	565	A6NKL6	T200C_HUMAN	T	565	.	ENSP00000372982:A565T	A	-	1	0	TMEM200C	5880370	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.162000	0.16501	-0.033000	0.13736	0.561000	0.74099	GCC		0.657	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209	
TMEM200C	645369	broad.mit.edu	37	18	5891883	5891883	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:5891883G>T	ENST00000581347.2	-	3	825	c.180C>A	c.(178-180)atC>atA	p.I60I	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.I60I|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	60						integral component of membrane (GO:0016021)		p.I60I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCAGCACCAGGATCCCACAGA	0.642																																					p.I60I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C180A	18						.						65.0	73.0	70.0					18																	5891883		2172	4265	6437	5881883	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.180C>A	18.37:g.5891883G>T			5881883	NM_001080209		Silent	SNP	ENST00000581347.2	37	CCDS45825.1																																																																																				0.642	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209	
PHLPP1	23239	broad.mit.edu	37	18	60562255	60562255	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:60562255T>C	ENST00000262719.5	+	5	2312	c.2078T>C	c.(2077-2079)tTg>tCg	p.L693S	PHLPP1_ENST00000400316.4_Missense_Mutation_p.L181S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	693					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.L180S(1)		endometrium(2)|kidney(2)|lung(13)	17						TTCACCAAGTTGAAGAGTCTT	0.408																																					p.L693S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2078C	18						.						47.0	45.0	46.0					18																	60562255		1857	4090	5947	58713235	SO:0001583	missense	23239	exon5			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.2078T>C	18.37:g.60562255T>C	ENSP00000262719:p.Leu693Ser		58713235	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	T	28.3	4.910315	0.92107	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.68765	-0.35;-0.35	5.81	5.81	0.92471	.	.	.	.	.	D	0.86932	0.6052	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90557	0.4513	9	0.87932	D	0	-11.5566	16.1721	0.81825	0.0:0.0:0.0:1.0	.	693	O60346	PHLP1_HUMAN	S	181;693	ENSP00000383170:L181S;ENSP00000262719:L693S	ENSP00000262719:L693S	L	+	2	0	PHLPP1	58713235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.552000	0.82192	2.232000	0.73038	0.533000	0.62120	TTG		0.408	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449	
SERPINB7	8710	broad.mit.edu	37	18	61463559	61463559	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:61463559G>A	ENST00000398019.2	+	5	721	c.396G>A	c.(394-396)acG>acA	p.T132T	SERPINB7_ENST00000546027.1_Silent_p.T132T|SERPINB7_ENST00000336429.2_Silent_p.T132T|SERPINB7_ENST00000540675.1_Silent_p.T115T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	132					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T132T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGACTTTACGAATCATTTAG	0.333																																					p.T132T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G396A	18						.						82.0	83.0	82.0					18																	61463559		2203	4299	6502	59614539	SO:0001819	synonymous_variant	8710	exon5			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.396G>A	18.37:g.61463559G>A			59614539	NM_003784	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	CCDS11988.1																																																																																				0.333	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784	
SERPINB2	5055	broad.mit.edu	37	18	61570474	61570474	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:61570474C>A	ENST00000299502.4	+	8	1263	c.1183C>A	c.(1183-1185)Ctt>Att	p.L395I	SERPINB2_ENST00000457692.1_Missense_Mutation_p.L395I	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	395					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L395I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TCATCCTTTTCTTTTTCTTAT	0.438																																					p.L395I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1183A	18						.						80.0	86.0	84.0					18																	61570474		2203	4300	6503	59721454	SO:0001583	missense	5055	exon8			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1183C>A	18.37:g.61570474C>A	ENSP00000299502:p.Leu395Ile		59721454	NM_002575	Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294579	0.23564	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.86230	-2.09;-2.09	5.64	4.77	0.60923	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.65677	2.01	0.80722	D	1	D	0.52996	0.957	P	0.47376	0.545	D	0.88867	0.3330	10	0.59425	D	0.04	.	13.9693	0.64230	0.0:0.9271:0.0:0.0729	.	395	P05120	PAI2_HUMAN	I	395	ENSP00000299502:L395I;ENSP00000401645:L395I	ENSP00000299502:L395I	L	+	1	0	SERPINB2	59721454	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	2.052000	0.41316	1.526000	0.49068	-0.262000	0.10625	CTT		0.438	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	
CLUL1	27098	broad.mit.edu	37	18	618095	618095	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:618095A>T	ENST00000400606.2	+	2	240	c.95A>T	c.(94-96)gAa>gTa	p.E32V	CLUL1_ENST00000579494.1_Missense_Mutation_p.E32V|CLUL1_ENST00000540035.1_Missense_Mutation_p.E84V|CLUL1_ENST00000338387.7_Missense_Mutation_p.E32V|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000581619.1_Missense_Mutation_p.E57V	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	32					cell death (GO:0008219)	extracellular region (GO:0005576)		p.E32V(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GCTATCAGTGAAAACCTGAAG	0.473																																					p.E32V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A95T	18						.						136.0	136.0	136.0					18																	618095		2038	4195	6233	608095	SO:0001583	missense	27098	exon2			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.95A>T	18.37:g.618095A>T	ENSP00000383449:p.Glu32Val		608095	NM_014410	A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	A	7.927	0.739765	0.15642	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.25912	1.77;1.77;1.77	5.68	-2.44	0.06502	Clusterin, N-terminal (1);	0.773311	0.12801	N	0.438000	T	0.18002	0.0432	L	0.43152	1.355	0.09310	N	1	P;P	0.39352	0.617;0.669	B;B	0.38106	0.173;0.265	T	0.14755	-1.0461	10	0.51188	T	0.08	-3.9462	6.2107	0.20628	0.6286:0.0:0.2266:0.1448	.	84;32	F5GWQ8;Q15846	.;CLUL1_HUMAN	V	32;84;32	ENSP00000383449:E32V;ENSP00000441726:E84V;ENSP00000341128:E32V	ENSP00000341128:E32V	E	+	2	0	CLUL1	608095	0.984000	0.35163	0.016000	0.15963	0.370000	0.29829	0.652000	0.24888	-0.129000	0.11620	-0.462000	0.05337	GAA		0.473	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1		
SERPINB8	5271	broad.mit.edu	37	18	61650848	61650848	+	Missense_Mutation	SNP	G	G	A	rs549578248		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:61650848G>A	ENST00000397985.2	+	5	716	c.460G>A	c.(460-462)Gat>Aat	p.D154N	SERPINB8_ENST00000397988.3_Missense_Mutation_p.D154N|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D154N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	154					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D154N(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGGGACAGTCGATCCCCTGAC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		16400	0.001		0.0	False		,,,				2504	0.0				p.D154N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	18						.						128.0	119.0	122.0					18																	61650848		2203	4300	6503	59801828	SO:0001583	missense	5271	exon5			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.460G>A	18.37:g.61650848G>A	ENSP00000381072:p.Asp154Asn		59801828	NM_002640	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	4.589	0.109375	0.08780	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.65	-4.15	0.03881	Serpin domain (3);	1.185490	0.05700	N	0.593896	T	0.68403	0.2997	L	0.31065	0.9	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.48281	-0.9049	10	0.23302	T	0.38	.	4.2285	0.10592	0.4708:0.0922:0.3389:0.0981	.	154;154	P50452;Q8N178	SPB8_HUMAN;.	N	154	ENSP00000381072:D154N;ENSP00000331368:D154N;ENSP00000381075:D154N;ENSP00000393456:D154N	ENSP00000331368:D154N	D	+	1	0	SERPINB8	59801828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.268000	0.02836	-1.199000	0.02666	-0.136000	0.14681	GAT		0.388	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848	
L3MBTL4	91133	broad.mit.edu	37	18	6241430	6241430	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:6241430A>C	ENST00000284898.6	-	8	679	c.479T>G	c.(478-480)tTt>tGt	p.F160C	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.F160C|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.F160C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.F160C|L3MBTL4_ENST00000535782.1_5'Flank	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	160					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F160C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CATCCAAACAAATTTATCTTT	0.303																																					p.F160C	Esophageal Squamous(41;748 902 17366 28959 43175)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T479G	18						.						71.0	81.0	78.0					18																	6241430		2201	4295	6496	6231430	SO:0001583	missense	91133	exon8			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.479T>G	18.37:g.6241430A>C	ENSP00000284898:p.Phe160Cys		6231430	NM_173464	A8MTL8|Q8IXS3	De_novo_Start_OutOfFrame	SNP	ENST00000284898.6	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648732	0.67358	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.45	4.26	0.50523	.	0.167930	0.38381	N	0.001715	T	0.71074	0.3297	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74064	-0.3785	10	0.62326	D	0.03	.	9.8388	0.40987	0.8463:0.0:0.0:0.1537	.	160	Q8NA19	LMBL4_HUMAN	C	160	ENSP00000382976:F160C;ENSP00000318543:F160C;ENSP00000284898:F160C;ENSP00000382975:F160C	ENSP00000284898:F160C	F	-	2	0	L3MBTL4	6231430	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	3.799000	0.55529	0.870000	0.35726	0.377000	0.23210	TTT		0.303	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464	
CDH7	1005	broad.mit.edu	37	18	63511273	63511273	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:63511273G>T	ENST00000397968.2	+	7	1633	c.1207G>T	c.(1207-1209)Gac>Tac	p.D403Y	CDH7_ENST00000536984.2_Missense_Mutation_p.D403Y|CDH7_ENST00000323011.3_Missense_Mutation_p.D403Y	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	403	Cadherin 4. {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.D403Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCAGCTCATGACCCAGATTC	0.438																																					p.D403Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1207T	18						.						147.0	129.0	135.0					18																	63511273		2203	4300	6503	61662253	SO:0001583	missense	1005	exon7			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1207G>T	18.37:g.63511273G>T	ENSP00000381058:p.Asp403Tyr		61662253	NM_004361	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304194	0.81136	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.75260	-0.92;-0.92;-0.92	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.110688	0.56097	D	0.000026	D	0.91898	0.7435	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.92;1.0	D	0.95159	0.8280	10	0.87932	D	0	.	17.9193	0.88961	0.0:0.0:1.0:0.0	.	403;403	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Y	403	ENSP00000319166:D403Y;ENSP00000443030:D403Y;ENSP00000381058:D403Y	ENSP00000319166:D403Y	D	+	1	0	CDH7	61662253	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.012000	0.93624	2.436000	0.82500	0.655000	0.94253	GAC		0.438	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
DSEL	92126	broad.mit.edu	37	18	65181467	65181467	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:65181467G>T	ENST00000310045.7	-	2	1882	c.409C>A	c.(409-411)Cct>Act	p.P137T	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	127					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.P137T(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)				AATGCTAAAGGAGGCAGATTG	0.418																																					p.P137T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C409A	18						.						109.0	98.0	102.0					18																	65181467		2203	4300	6503	63332447	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.409C>A	18.37:g.65181467G>T	ENSP00000310565:p.Pro137Thr		63332447	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644033	0.67244	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20881	2.04	4.79	2.95	0.34219	.	0.000000	0.85682	U	0.000000	T	0.37785	0.1016	M	0.64997	1.995	0.46798	D	0.999201	D	0.64830	0.994	P	0.59115	0.852	T	0.11641	-1.0579	10	0.40728	T	0.16	-13.7047	15.0378	0.71764	0.0:0.2705:0.7295:0.0	.	127	Q8IZU8	DSEL_HUMAN	T	137;127	ENSP00000310565:P137T	ENSP00000310565:P137T	P	-	1	0	DSEL	63332447	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	5.272000	0.65559	0.539000	0.28788	0.561000	0.74099	CCT		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
LAMA1	284217	broad.mit.edu	37	18	6942125	6942125	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:6942125C>T	ENST00000389658.3	-	63	9274	c.9181G>A	c.(9181-9183)Gaa>Aaa	p.E3061K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3061	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E3061K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCGTGCAGTTCGAACGCTCTG	0.507																																					p.E3061K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9181A	18						.						101.0	104.0	103.0					18																	6942125		2203	4300	6503	6932125	SO:0001583	missense	284217	exon63			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.9181G>A	18.37:g.6942125C>T	ENSP00000374309:p.Glu3061Lys		6932125	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651079	0.29336	.	.	ENSG00000101680	ENST00000389658	T	0.44482	0.92	5.7	2.92	0.33932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.687277	0.13604	N	0.375655	T	0.35856	0.0946	L	0.50333	1.59	0.24198	N	0.995526	P;P	0.47350	0.616;0.894	B;B	0.39299	0.025;0.296	T	0.07809	-1.0753	10	0.27785	T	0.31	.	12.2555	0.54621	0.1256:0.6327:0.2416:0.0	.	3061;391	P25391;B3KSD8	LAMA1_HUMAN;.	K	3061	ENSP00000374309:E3061K	ENSP00000374309:E3061K	E	-	1	0	LAMA1	6932125	0.901000	0.30685	0.009000	0.14445	0.004000	0.04260	1.210000	0.32370	0.333000	0.23563	0.655000	0.94253	GAA		0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	6985566	6985566	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:6985566G>A	ENST00000389658.3	-	38	5549	c.5456C>T	c.(5455-5457)gCt>gTt	p.A1819V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1819	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.A1819V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCAGCAGCAGCATCTATCAA	0.408																																					p.A1819V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5456T	18						.						147.0	130.0	136.0					18																	6985566		2203	4300	6503	6975566	SO:0001583	missense	284217	exon38			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5456C>T	18.37:g.6985566G>A	ENSP00000374309:p.Ala1819Val		6975566	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170006	0.38315	.	.	ENSG00000101680	ENST00000389658	T	0.10763	2.84	5.73	3.92	0.45320	Laminin I (1);	0.693438	0.13739	N	0.366104	T	0.12092	0.0294	L	0.60455	1.87	0.09310	N	1	B	0.16166	0.016	B	0.23275	0.045	T	0.06215	-1.0839	10	0.38643	T	0.18	.	7.7435	0.28856	0.1245:0.0:0.7369:0.1385	.	1819	P25391	LAMA1_HUMAN	V	1819	ENSP00000374309:A1819V	ENSP00000374309:A1819V	A	-	2	0	LAMA1	6975566	0.000000	0.05858	0.738000	0.30950	0.008000	0.06430	-0.060000	0.11712	2.708000	0.92522	0.655000	0.94253	GCT		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
CCDC102B	79839	broad.mit.edu	37	18	66504253	66504253	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:66504253G>A	ENST00000360242.5	+	2	370	c.253G>A	c.(253-255)Gct>Act	p.A85T	CCDC102B_ENST00000358653.5_Missense_Mutation_p.A85T|CCDC102B_ENST00000584156.1_Missense_Mutation_p.A85T|CCDC102B_ENST00000319445.6_Missense_Mutation_p.A85T|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	85								p.A85T(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)				CAAGGCCAGAGCTGCTCAGAT	0.488																																					p.A85T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	18						.						106.0	107.0	107.0					18																	66504253		1943	4135	6078	64655233	SO:0001583	missense	79839	exon4			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.253G>A	18.37:g.66504253G>A	ENSP00000353377:p.Ala85Thr		64655233	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406068	0.62288	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.48522	0.81;0.81;0.81	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000032	T	0.55593	0.1930	N	0.20986	0.625	0.44946	D	0.997966	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.59467	-0.7449	10	0.59425	D	0.04	-10.032	15.9649	0.79961	0.0:0.0:1.0:0.0	.	85;85	Q68D86-3;Q68D86	.;C102B_HUMAN	T	85	ENSP00000316237:A85T;ENSP00000351479:A85T;ENSP00000353377:A85T	ENSP00000316237:A85T	A	+	1	0	CCDC102B	64655233	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	9.307000	0.96226	2.446000	0.82766	0.460000	0.39030	GCT		0.488	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
ZNF236	7776	broad.mit.edu	37	18	74639913	74639913	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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		
ATP9B	374868	broad.mit.edu	37	18	76936828	76936828	+	Missense_Mutation	SNP	G	G	A	rs140291894		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:76936828G>A	ENST00000426216.2	+	8	811	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.R265Q	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	265					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R265Q(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TGTTTTATTCGAACTGATCAA	0.448																																					p.R265Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G794A	18						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	106.0	102.0	103.0		794	5.6	1.0	18	dbSNP_134	103	0,8600		0,0,4300	no	missense	ATP9B	NM_198531.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	265/1148	76936828	2,13004	2203	4300	6503	75037816	SO:0001583	missense	374868	exon8			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.794G>A	18.37:g.76936828G>A	ENSP00000398076:p.Arg265Gln		75037816	NM_198531	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504855	0.96371	4.54E-4	0.0	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.90444	-2.67;-2.67	5.56	5.56	0.83823	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.95811	0.8841	10	0.87932	D	0	.	19.5243	0.95197	0.0:0.0:1.0:0.0	.	265;265	O43861;O43861-2	ATP9B_HUMAN;.	Q	265	ENSP00000398076:R265Q;ENSP00000304500:R265Q	ENSP00000304500:R265Q	R	+	2	0	ATP9B	75037816	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.857000	0.92250	2.605000	0.88082	0.655000	0.94253	CGA		0.448	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
MTCL1	23255	broad.mit.edu	37	18	8825986	8825986	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:8825986C>T	ENST00000306329.11	+	13	5435	c.5435C>T	c.(5434-5436)tCg>tTg	p.S1812L	SOGA2_ENST00000306285.7_Missense_Mutation_p.S818L|SOGA2_ENST00000518815.1_Missense_Mutation_p.S818L|SOGA2_ENST00000400050.3_Missense_Mutation_p.S1452L|SOGA2_ENST00000359865.3_Missense_Mutation_p.S1493L|SOGA2_ENST00000517570.1_Missense_Mutation_p.S1452L														p.S1493L(1)									CGAGGAAGGTCGCCTAGCCCC	0.657																																					p.S1493L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4478T	18						.						29.0	32.0	31.0					18																	8825986		2203	4299	6502	8815986	SO:0001583	missense	23255	exon15																														ENST00000306329.11:c.5435C>T	18.37:g.8825986C>T	ENSP00000305027:p.Ser1812Leu		8815986	NM_015210		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	13.58	2.280562	0.40294	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T;T	0.39406	1.84;2.11;2.08;2.11;1.08	5.55	5.55	0.83447	.	0.000000	0.44097	D	0.000499	T	0.45236	0.1332	M	0.78637	2.42	0.80722	D	1	B;P	0.42941	0.313;0.794	B;B	0.31547	0.027;0.132	T	0.58521	-0.7622	10	0.87932	D	0	-13.1286	19.5045	0.95110	0.0:1.0:0.0:0.0	.	1803;1493	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	L	1514;1452;1493;1452;818	ENSP00000305027:S1514L;ENSP00000429556:S1452L;ENSP00000352927:S1493L;ENSP00000382924:S1452L;ENSP00000303670:S818L	ENSP00000303670:S818L	S	+	2	0	CCDC165	8815986	1.000000	0.71417	0.104000	0.21259	0.224000	0.24922	5.907000	0.69908	2.623000	0.88846	0.462000	0.41574	TCG		0.657	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
ANKRD12	23253	broad.mit.edu	37	18	9195623	9195623	+	Missense_Mutation	SNP	G	G	T	rs371617857		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:9195623G>T	ENST00000262126.4	+	3	402	c.162G>T	c.(160-162)gaG>gaT	p.E54D	ANKRD12_ENST00000383440.2_Missense_Mutation_p.E54D|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E54D	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E54D(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						AGATGAAAGAGAAATCATCCA	0.348																																					p.E54D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162T	18						.						87.0	81.0	83.0					18																	9195623		2203	4300	6503	9185623	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.162G>T	18.37:g.9195623G>T	ENSP00000262126:p.Glu54Asp		9185623	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122797	0.56613	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T;T	0.50001	3.42;0.76;3.42	5.57	4.7	0.59300	.	0.130507	0.51477	D	0.000093	T	0.61198	0.2328	M	0.61703	1.905	0.39771	D	0.972161	B;D;D	0.71674	0.255;0.998;0.994	B;D;D	0.77557	0.078;0.99;0.97	T	0.64943	-0.6288	10	0.72032	D	0.01	-0.2628	7.0566	0.25104	0.2922:0.0:0.7078:0.0	.	54;54;54	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	D	54	ENSP00000372932:E54D;ENSP00000441510:E54D;ENSP00000262126:E54D	ENSP00000262126:E54D	E	+	3	2	ANKRD12	9185623	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.302000	0.43637	1.352000	0.45808	0.555000	0.69702	GAG		0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
RALBP1	10928	broad.mit.edu	37	18	9513254	9513254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:9513254delA	ENST00000019317.4	+	2	434	c.211delA	c.(211-213)aaafs	p.K72fs	RALBP1_ENST00000383432.3_Frame_Shift_Del_p.K72fs			Q15311	RBP1_HUMAN	ralA binding protein 1	72					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)	p.K74fs*30(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TCATGGGAAGAAAAAAGGGAA	0.368																																					p.K71fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.211delA	18						.						45.0	46.0	46.0					18																	9513254		2203	4300	6503	9503254	SO:0001589	frameshift_variant	10928	exon2			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.211delA	18.37:g.9513254delA	ENSP00000019317:p.Lys72fs		9503254	NM_006788	D3DUI0	Frame_Shift_Del	DEL	ENST00000019317.4	37	CCDS11845.1																																																																																				0.368	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788	
TMEM241	85019	broad.mit.edu	37	18	20951384	20951384	+	Splice_Site	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:20951384A>G	ENST00000383233.3	-	8	537		c.e8+1		TMEM241_ENST00000450466.2_Splice_Site|TMEM241_ENST00000542162.1_Splice_Site	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241							integral component of membrane (GO:0016021)		p.?(1)									TTTAAAACTTACCTACACAGA	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						34.0	33.0	34.0					18																	20951384		1837	4079	5916	19205382	SO:0001630	splice_region_variant	85019	.			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.484+1T>C	18.37:g.20951384A>G			19205382	.	I0J130|Q6ZTS7|Q6ZW41	Splice_Site	SNP	ENST00000383233.3	37	CCDS11876.2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122422	0.77436	.	.	ENSG00000134490	ENST00000450466;ENST00000383233;ENST00000542162;ENST00000497608	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5782	0.56375	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C18orf45	19205382	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.709000	0.61867	2.225000	0.72522	0.533000	0.62120	.		0.408	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933	Intron
RBFA	79863	broad.mit.edu	37	18	77805926	77805926	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	G	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr18:77805926T>G	ENST00000306735.5	+	7	941	c.803T>G	c.(802-804)gTg>gGg	p.V268G	RP11-795F19.5_ENST00000564012.1_Intron|RBFA_ENST00000262197.7_Missense_Mutation_p.W240G|RP11-795F19.5_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	268					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CAGGGGCAGGTGGCTGAGCTG	0.567																																					p.W240G												.	.	0			c.T718G	18						.						62.0	70.0	68.0					18																	77805926		2203	4300	6503	75906914	SO:0001583	missense	79863	exon6			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.803T>G	18.37:g.77805926T>G	ENSP00000305696:p.Val268Gly		75906914	NM_001171967	Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	CCDS12021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.978|5.978	0.364373|0.364373	0.11296|0.11296	.|.	.|.	ENSG00000101546|ENSG00000101546	ENST00000306735|ENST00000262197	T|T	0.23950|0.55930	1.88|0.49	4.78|4.78	-9.57|-9.57	0.00562|0.00562	.|.	2.672200|.	0.01164|.	N|.	0.006707|.	T|T	0.33469|0.33469	0.0864|0.0864	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.24823|0.02656	0.112|0.0	B|B	0.19148|0.04013	0.024|0.001	T|T	0.35325|0.35325	-0.9793|-0.9793	8|8	.|0.87932	.|D	.|0	-4.1118|-4.1118	5.1789|5.1789	0.15150|0.15150	0.1888:0.4811:0.0993:0.2307|0.1888:0.4811:0.0993:0.2307	.|.	268|240	Q8N0V3|Q8N0V3-2	RBFA_HUMAN|.	G|G	268|240	ENSP00000305696:V268G|ENSP00000262197:W240G	.|ENSP00000262197:W240G	V|W	+|+	2|1	0|0	RBFA|RBFA	75906914|75906914	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.783000|-0.783000	0.04638|0.04638	-2.971000|-2.971000	0.00286|0.00286	-1.100000|-1.100000	0.02121|0.02121	GTG|TGG		0.567	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805	
POLR2E	5434	broad.mit.edu	37	19	1090978	1090978	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:1090978C>T	ENST00000215587.7	-	4	641	c.358G>A	c.(358-360)Gac>Aac	p.D120N	POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Missense_Mutation_p.D120N			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	120					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.D120N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCCATGTCGACCAGGGAC	0.642																																					p.D120N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358A	19						.						58.0	55.0	56.0					19																	1090978		2203	4300	6503	1041978	SO:0001583	missense	5434	exon4				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.358G>A	19.37:g.1090978C>T	ENSP00000215587:p.Asp120Asn		1041978	NM_002695	B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245168	0.59103	.	.	ENSG00000099817	ENST00000215587	T	0.44881	0.91	3.47	3.47	0.39725	RNA polymerase, Rpb5, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	M	0.69823	2.125	0.80722	D	1	P	0.42337	0.776	B	0.28991	0.097	T	0.53464	-0.8435	10	0.62326	D	0.03	-10.6708	14.0569	0.64774	0.0:1.0:0.0:0.0	.	120	P19388	RPAB1_HUMAN	N	120	ENSP00000215587:D120N	ENSP00000215587:D120N	D	-	1	0	POLR2E	1041978	1.000000	0.71417	0.975000	0.42487	0.295000	0.27426	7.372000	0.79612	1.912000	0.55364	0.491000	0.48974	GAC		0.642	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695	
ICAM5	7087	broad.mit.edu	37	19	10404455	10404455	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:10404455C>T	ENST00000221980.4	+	7	1610	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	516	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A516V(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGCTGTGTGGCGCACGGGGTA	0.652																																					p.A516V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1547T	19						.						85.0	86.0	85.0					19																	10404455		2203	4300	6503	10265455	SO:0001583	missense	7087	exon7			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1547C>T	19.37:g.10404455C>T	ENSP00000221980:p.Ala516Val		10265455	NM_003259	Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832338	0.71258	.	.	ENSG00000105376	ENST00000221980	T	0.08370	3.1	4.85	4.85	0.62838	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.265897	0.26696	N	0.022977	T	0.19248	0.0462	L	0.53671	1.685	0.37918	D	0.931584	D	0.64830	0.994	P	0.59056	0.851	T	0.00989	-1.1489	10	0.41790	T	0.15	-16.7303	13.3264	0.60463	0.0:1.0:0.0:0.0	.	516	Q9UMF0	ICAM5_HUMAN	V	516	ENSP00000221980:A516V	ENSP00000221980:A516V	A	+	2	0	ICAM5	10265455	0.990000	0.36364	0.952000	0.39060	0.265000	0.26407	3.750000	0.55157	2.528000	0.85240	0.448000	0.29417	GCG		0.652	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259	
KEAP1	9817	broad.mit.edu	37	19	10600346	10600346	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:10600346C>A	ENST00000171111.5	-	4	2056	c.1509G>T	c.(1507-1509)atG>atT	p.M503I	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.M503I	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	503					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.M503I(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)	GGATGGTGTTCATTGCTGTGA	0.592																																					p.M503I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1509T	19						.						95.0	77.0	84.0					19																	10600346		2203	4300	6503	10461346	SO:0001583	missense	9817	exon4			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.1509G>T	19.37:g.10600346C>A	ENSP00000171111:p.Met503Ile		10461346	NM_203500	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943158	0.92526	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.84070	-1.8;-1.8	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.88181	2.935	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.93470	0.6818	10	0.87932	D	0	.	17.3242	0.87243	0.0:1.0:0.0:0.0	.	503	Q14145	KEAP1_HUMAN	I	503	ENSP00000171111:M503I;ENSP00000377245:M503I	ENSP00000171111:M503I	M	-	3	0	KEAP1	10461346	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.042000	0.76565	2.692000	0.91855	0.558000	0.71614	ATG		0.592	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289	
ELAVL3	1995	broad.mit.edu	37	19	11569284	11569284	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:11569284T>C	ENST00000359227.3	-	4	900	c.476A>G	c.(475-477)gAc>gGc	p.D159G	ELAVL3_ENST00000438662.2_Missense_Mutation_p.D159G	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	159	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.D159G(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGTGACCTGGTCCACCAGGAT	0.627																																					p.D159G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A476G	19						.						104.0	91.0	95.0					19																	11569284		2203	4300	6503	11430284	SO:0001583	missense	1995	exon4				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.476A>G	19.37:g.11569284T>C	ENSP00000352162:p.Asp159Gly		11430284	NM_001420	Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843962	0.91197	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.24151	2.8;1.87	4.96	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	M	0.82056	2.57	0.80722	D	1	P;P	0.41978	0.767;0.725	B;B	0.43838	0.422;0.433	T	0.43475	-0.9389	10	0.87932	D	0	.	13.6014	0.62022	0.0:0.0:0.0:1.0	.	159;159	Q14576;Q14576-2	ELAV3_HUMAN;.	G	159	ENSP00000352162:D159G;ENSP00000390878:D159G	ENSP00000352162:D159G	D	-	2	0	ELAVL3	11430284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.923000	0.87546	1.872000	0.54250	0.402000	0.26972	GAC		0.627	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420	
ZNF491	126069	broad.mit.edu	37	19	11917241	11917241	+	Missense_Mutation	SNP	G	G	A	rs376949228		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:11917241G>A	ENST00000323169.5	+	3	804	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	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)	p.R158Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GGAGAGAAACGATATGAATGT	0.418																																					p.R158Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473A	19						.	G	GLN/ARG	0,4406		0,0,2203	77.0	77.0	77.0		473	-0.1	0.0	19		77	1,8599		0,1,4299	no	missense	ZNF491	NM_152356.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	158/438	11917241	1,13005	2203	4300	6503	11778241	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.473G>A	19.37:g.11917241G>A	ENSP00000313443:p.Arg158Gln		11778241	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	c	19.92	3.916826	0.73098	0.0	1.16E-4	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.18174	2.23	1.02	-0.0601	0.13790	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	N	0.14661	0.345	0.22050	N	0.999399	B	0.06786	0.001	B	0.04013	0.001	T	0.30851	-0.9964	9	0.87932	D	0	.	8.2056	0.31454	0.0:0.7465:0.2535:0.0	.	158	Q8N8L2	ZN491_HUMAN	Q	158	ENSP00000313443:R158Q	ENSP00000313443:R158Q	R	+	2	0	ZNF491	11778241	0.000000	0.05858	0.007000	0.13788	0.479000	0.33129	-0.063000	0.11655	0.020000	0.15106	-0.289000	0.09944	CGA		0.418	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF763	284390	broad.mit.edu	37	19	12089548	12089548	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:12089548C>A	ENST00000358987.3	+	4	936	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	ZNF763_ENST00000590798.1_Missense_Mutation_p.S290Y|ZNF763_ENST00000545530.1_Missense_Mutation_p.S148Y|ZNF763_ENST00000343949.5_Missense_Mutation_p.S273Y|ZNF763_ENST00000538752.1_Missense_Mutation_p.S290Y			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	270					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)	p.S272Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AGTTCCAGTTCTTTTCAAGCA	0.388																																					p.S273Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C818A	19						.						57.0	61.0	60.0					19																	12089548		2193	4298	6491	11950548	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.809C>A	19.37:g.12089548C>A	ENSP00000402017:p.Ser270Tyr		11950548	NM_001012753	B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37		.	.	.	.	.	.	.	.	.	.	c	7.124	0.578479	0.13686	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	0.641	-1.25	0.09405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	L	0.28274	0.84	0.09310	N	1	D;D;B	0.67145	0.965;0.996;0.391	P;D;B	0.65573	0.748;0.936;0.03	T	0.30822	-0.9965	9	0.25106	T	0.35	.	6.1025	0.20055	0.6826:0.3174:0.0:0.0	.	290;270;273	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	Y	290;273;148;270	ENSP00000438117:S290Y;ENSP00000369774:S273Y;ENSP00000446166:S148Y;ENSP00000402017:S270Y	ENSP00000369774:S273Y	S	+	2	0	ZNF763	11950548	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.744000	0.04839	-0.270000	0.09285	0.306000	0.20318	TCT		0.388	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753	
ZNF625	90589	broad.mit.edu	37	19	12256780	12256780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:12256780G>A	ENST00000355738.1	-	4	602	c.253C>T	c.(253-255)Cga>Tga	p.R85*	ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000439556.2_Nonsense_Mutation_p.R151*|ZNF625_ENST00000542938.1_Nonsense_Mutation_p.R85*|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	85					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.R85*(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATGTGTTCGAAAGTAGGGG	0.423																																					p.R85X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C253T	19						.						133.0	121.0	125.0					19																	12256780		2203	4300	6503	12117780	SO:0001587	stop_gained	90589	exon4			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.253C>T	19.37:g.12256780G>A	ENSP00000347977:p.Arg85*		12117780	NM_145233	A4FU45|I3L0E9	Nonsense_Mutation	SNP	ENST00000355738.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.928279	0.97116	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	.	.	.	0.856	-1.71	0.08133	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.1126	0.10065	0.0:0.2477:0.5024:0.2499	.	.	.	.	X	85;85;151	.	ENSP00000347977:R85X	R	-	1	2	AC022415.5	12117780	.	.	0.000000	0.03702	0.922000	0.55478	.	.	-0.900000	0.03896	0.313000	0.20887	CGA		0.423	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233	
ZNF564	163050	broad.mit.edu	37	19	12637432	12637432	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:12637432C>A	ENST00000339282.7	-	4	1686	c.1490G>T	c.(1489-1491)aGa>aTa	p.R497I	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	497					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.R497I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTATGAGTTCTTTCATGTAT	0.368																																					p.R497I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1490T	19						.						92.0	98.0	96.0					19																	12637432		2187	4292	6479	12498432	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.1490G>T	19.37:g.12637432C>A	ENSP00000340004:p.Arg497Ile		12498432	NM_144976	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892916	0.72524	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.71	0.638	0.17742	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40247	0.1109	M	0.79693	2.465	0.80722	D	1	P	0.52316	0.952	P	0.54924	0.764	T	0.33574	-0.9863	9	0.59425	D	0.04	.	7.7887	0.29108	0.0:0.8543:0.0:0.1457	.	497	Q8TBZ8	ZN564_HUMAN	I	497	ENSP00000340004:R497I	ENSP00000340004:R497I	R	-	2	0	ZNF564	12498432	0.000000	0.05858	0.221000	0.23827	0.997000	0.91878	-0.297000	0.08276	0.300000	0.22699	0.643000	0.83706	AGA		0.368	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
TNPO2	30000	broad.mit.edu	37	19	12829980	12829980	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:12829980C>T	ENST00000592287.1	-	4	296	c.188G>A	c.(187-189)cGc>cAc	p.R63H	TNPO2_ENST00000441499.1_Missense_Mutation_p.R63H|TNPO2_ENST00000588216.1_Missense_Mutation_p.R63H|TNPO2_ENST00000450764.2_Missense_Mutation_p.R63H|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000425528.1_Missense_Mutation_p.R63H|TNPO2_ENST00000356861.5_Missense_Mutation_p.R63H	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	63	Importin N-terminal.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.R63H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTGAGAGAGCGCGTTGGCTC	0.582																																					p.R63H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	19						.						100.0	103.0	102.0					19																	12829980		2029	4179	6208	12690980	SO:0001583	missense	30000	exon4			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.188G>A	19.37:g.12829980C>T	ENSP00000468434:p.Arg63His		12690980	NM_001136196	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835084	0.91117	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93949	0.7230	10	0.87932	D	0	-15.7068	18.4167	0.90572	0.0:1.0:0.0:0.0	.	227;63	Q4LE60;O14787	.;TNPO2_HUMAN	H	227;63;63;63;63;63;63	ENSP00000407182:R63H;ENSP00000389648:R63H;ENSP00000397379:R63H;ENSP00000349321:R63H	ENSP00000349321:R63H	R	-	2	0	TNPO2	12690980	1.000000	0.71417	0.957000	0.39632	0.609000	0.37215	7.160000	0.77495	2.647000	0.89833	0.650000	0.86243	CGC		0.582	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433	
CACNA1A	773	broad.mit.edu	37	19	13363807	13363807	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:13363807G>T	ENST00000360228.5	-	30	4863	c.4864C>A	c.(4864-4866)Ctg>Atg	p.L1622M	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1623M	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	1623					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.L1623M(1)		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)	GTACTTACCAGAATCCCAAAA	0.532																																					p.L1623M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4867A	19						.						71.0	70.0	70.0					19																	13363807		1931	4135	6066	13224807	SO:0001583	missense	773	exon30			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.4864C>A	19.37:g.13363807G>T	ENSP00000353362:p.Leu1622Met		13224807	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290838	0.23564	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.97505	-4.41	4.4	2.24	0.28232	Ion transport (1);	0.115168	0.36815	N	0.002397	D	0.95166	0.8433	M	0.66439	2.03	0.35465	D	0.796852	P;P;B;P	0.40602	0.723;0.676;0.437;0.537	B;B;B;B	0.42959	0.403;0.281;0.277;0.403	D	0.93665	0.6985	10	0.56958	D	0.05	.	5.2403	0.15467	0.1805:0.0:0.6526:0.1669	.	1623;1626;1622;1623	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	M	1622;1626;1623;1623;239	ENSP00000353362:L1622M	ENSP00000317661:L1623M	L	-	1	2	CACNA1A	13224807	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.393000	0.59665	0.480000	0.27534	0.655000	0.94253	CTG		0.532	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
ZNF333	84449	broad.mit.edu	37	19	14829773	14829773	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:14829773G>A	ENST00000292530.6	+	12	1725	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	ZNF333_ENST00000536363.1_Missense_Mutation_p.R436H|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GTCTTGAGTCGTCTTTCAACC	0.557																																					p.R545H	NSCLC(60;75 1281 16985 25154 29885)											.	.	0			c.G1634A	19						.						99.0	74.0	83.0					19																	14829773		2203	4300	6503	14690773	SO:0001583	missense	84449	exon12				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1634G>A	19.37:g.14829773G>A	ENSP00000292530:p.Arg545His		14690773	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211618	0.39102	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.07327	3.2;3.2	3.26	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	L	0.39085	1.19	0.09310	N	1	P	0.38020	0.615	B	0.29785	0.107	T	0.33727	-0.9857	9	0.66056	D	0.02	.	3.4999	0.07669	0.1346:0.0:0.6116:0.2537	.	545	Q96JL9	ZN333_HUMAN	H	436;545	ENSP00000439749:R436H;ENSP00000292530:R545H	ENSP00000292530:R545H	R	+	2	0	ZNF333	14690773	0.000000	0.05858	0.866000	0.34008	0.995000	0.86356	-0.109000	0.10840	1.846000	0.53633	0.655000	0.94253	CGT		0.557	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
EMR2	30817	broad.mit.edu	37	19	14883285	14883285	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:14883285G>A	ENST00000315576.3	-	5	675	c.224C>T	c.(223-225)tCg>tTg	p.S75L	EMR2_ENST00000353876.1_Missense_Mutation_p.S75L|EMR2_ENST00000353005.1_Missense_Mutation_p.S75L|EMR2_ENST00000594076.1_Missense_Mutation_p.S75L|EMR2_ENST00000601345.1_Missense_Mutation_p.S75L|EMR2_ENST00000594294.1_Missense_Mutation_p.S75L|EMR2_ENST00000392965.3_Missense_Mutation_p.S75L|EMR2_ENST00000392967.2_Missense_Mutation_p.S75L|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000346057.1_Missense_Mutation_p.S75L|EMR2_ENST00000595839.1_Missense_Mutation_p.S75L|EMR2_ENST00000596991.2_Missense_Mutation_p.S75L|EMR2_ENST00000392964.3_5'Flank	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	75	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.S75L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGACACTTTCGACAGTGTTGC	0.542																																					p.S75L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C224T	19						.						147.0	108.0	121.0					19																	14883285		2203	4300	6503	14744285	SO:0001583	missense	30817	exon5			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.224C>T	19.37:g.14883285G>A	ENSP00000319883:p.Ser75Leu		14744285	NM_152920	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	3.456	-0.110948	0.06924	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	3.95	-7.9	0.01169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.79770	0.4503	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B;B;B	0.23490	0.002;0.018;0.003;0.086;0.01;0.037;0.03	B;B;B;B;B;B;B	0.18263	0.001;0.003;0.002;0.021;0.003;0.005;0.004	T	0.65985	-0.6035	9	0.21540	T	0.41	.	7.3734	0.26815	0.2045:0.3655:0.43:0.0	.	75;75;75;75;75;75;75	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	L	75	ENSP00000319883:S75L;ENSP00000376694:S75L;ENSP00000263380:S75L;ENSP00000319454:S75L;ENSP00000319838:S75L;ENSP00000376692:S75L;ENSP00000376689:S75L	ENSP00000319883:S75L	S	-	2	0	EMR2	14744285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.195000	0.00563	-2.497000	0.00513	-0.445000	0.05633	TCG		0.542	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
OR7A5	26659	broad.mit.edu	37	19	14938387	14938387	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:14938387A>C	ENST00000322301.3	-	2	754	c.667T>G	c.(667-669)Tct>Gct	p.S223A	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.S223A			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	223					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.S223A(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGTATGGAAGAAATTATCTTA	0.428																																					p.S223A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T667G	19						.						69.0	65.0	66.0					19																	14938387		2203	4300	6503	14799387	SO:0001583	missense	26659	exon1			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.667T>G	19.37:g.14938387A>C	ENSP00000316955:p.Ser223Ala		14799387	NM_017506	B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	a	12.47	1.948290	0.34377	.	.	ENSG00000188269	ENST00000322301	T	0.37058	1.22	3.12	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31327	0.0793	L	0.35487	1.065	0.09310	N	1	B	0.31485	0.325	B	0.37304	0.246	T	0.28396	-1.0045	9	0.56958	D	0.05	.	9.7458	0.40446	1.0:0.0:0.0:0.0	.	223	Q15622	OR7A5_HUMAN	A	223	ENSP00000316955:S223A	ENSP00000316955:S223A	S	-	1	0	OR7A5	14799387	0.000000	0.05858	0.191000	0.23289	0.216000	0.24613	-0.259000	0.08721	1.471000	0.48121	0.102000	0.15555	TCT		0.428	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506	
SLC1A6	6511	broad.mit.edu	37	19	15072848	15072848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:15072848C>A	ENST00000221742.3	-	5	908	c.901G>T	c.(901-903)Gag>Tag	p.E301*	SLC1A6_ENST00000430939.2_Nonsense_Mutation_p.E237*|SLC1A6_ENST00000598504.1_Nonsense_Mutation_p.E301*|SLC1A6_ENST00000544886.2_Nonsense_Mutation_p.E301*|SLC1A6_ENST00000600144.1_Nonsense_Mutation_p.E301*	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	301					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.E301*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						ATAATAGCCTCATTGAGGCTG	0.582																																					p.E301X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G901T	19						.						86.0	82.0	83.0					19																	15072848		2203	4300	6503	14933848	SO:0001587	stop_gained	6511	exon5				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.901G>T	19.37:g.15072848C>A	ENSP00000221742:p.Glu301*		14933848	NM_005071	Q8N753	Nonsense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	36	5.603447	0.96626	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-24.3715	14.417	0.67158	0.0:1.0:0.0:0.0	.	.	.	.	X	237;301;301	.	ENSP00000221742:E301X	E	-	1	0	SLC1A6	14933848	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.520000	0.81821	2.255000	0.74692	0.460000	0.39030	GAG		0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
ILVBL	10994	broad.mit.edu	37	19	15230829	15230829	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:15230829C>T	ENST00000263383.3	-	7	919	c.780G>A	c.(778-780)ccG>ccA	p.P260P	ILVBL_ENST00000534378.1_Silent_p.P153P|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	260						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.P260P(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCAGGGGCAGCGGTCCCTCGG	0.597																																					p.P260P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G780A	19						.						22.0	21.0	21.0					19																	15230829		2011	3815	5826	15091829	SO:0001819	synonymous_variant	10994	exon7			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.780G>A	19.37:g.15230829C>T			15091829	NM_006844	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	CCDS12325.1																																																																																				0.597	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844	
NOTCH3	4854	broad.mit.edu	37	19	15296322	15296322	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:15296322C>T	ENST00000263388.2	-	13	2195	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	707	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G707D(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATAGCAGATGCCGTGACTGCA	0.672																																					p.G707D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2120A	19						.						43.0	36.0	38.0					19																	15296322		2203	4300	6503	15157322	SO:0001583	missense	4854	exon13			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2120G>A	19.37:g.15296322C>T	ENSP00000263388:p.Gly707Asp		15157322	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574525	0.65878	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.97480	-4.4	5.11	5.11	0.69529	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32655	N	0.005806	D	0.98551	0.9516	M	0.90922	3.16	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99211	1.0876	10	0.87932	D	0	.	11.5805	0.50889	0.0:0.9134:0.0:0.0866	.	710;707	Q59FL3;Q9UM47	.;NOTC3_HUMAN	D	707;709	ENSP00000263388:G707D	ENSP00000263388:G707D	G	-	2	0	NOTCH3	15157322	0.997000	0.39634	0.953000	0.39169	0.428000	0.31595	4.283000	0.58977	2.388000	0.81334	0.655000	0.94253	GGC		0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
AKAP8	10270	broad.mit.edu	37	19	15484055	15484055	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:15484055G>A	ENST00000269701.2	-	5	528	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	156					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F156F(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ACCCCAGGTCGAACTCATAGT	0.652																																					p.F156F	GBM(190;1671 2163 3274 27186 30476)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	19						.						30.0	36.0	34.0					19																	15484055		2203	4300	6503	15345055	SO:0001819	synonymous_variant	10270	exon5			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.468C>T	19.37:g.15484055G>A			15345055	NM_005858		Silent	SNP	ENST00000269701.2	37	CCDS12329.1																																																																																				0.652	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
CYP4F3	4051	broad.mit.edu	37	19	15770163	15770163	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:15770163G>A	ENST00000221307.8	+	13	1578	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	CYP4F3_ENST00000585846.1_Missense_Mutation_p.G511R|CYP4F3_ENST00000591058.1_Missense_Mutation_p.G511R|CYP4F3_ENST00000586182.2_Missense_Mutation_p.G511R	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	511					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.G511R(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGCAGAGGGCGGACTTTGGCT	0.622																																					p.G511R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1531A	19						.						11.0	13.0	12.0					19																	15770163		2193	4262	6455	15631163	SO:0001583	missense	4051	exon13			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1531G>A	19.37:g.15770163G>A	ENSP00000221307:p.Gly511Arg		15631163	NM_001199209	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	18.01	3.528389	0.64860	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.81908	-1.55	3.48	3.48	0.39840	.	0.000000	0.64402	U	0.000005	D	0.93671	0.7978	H	0.97291	3.975	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	0.95141	0.8264	10	0.87932	D	0	.	12.5159	0.56032	0.0:0.0:1.0:0.0	.	221;511;511	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	R	438;511	ENSP00000221307:G511R	ENSP00000221307:G511R	G	+	1	0	CYP4F3	15631163	1.000000	0.71417	0.981000	0.43875	0.497000	0.33675	8.500000	0.90498	1.773000	0.52216	0.305000	0.20034	GGA		0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
EPS15L1	58513	broad.mit.edu	37	19	16514555	16514555	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:16514555C>T	ENST00000248070.6	-	15	1754	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	EPS15L1_ENST00000535753.2_Missense_Mutation_p.E539K|EPS15L1_ENST00000597937.1_Missense_Mutation_p.E539K|EPS15L1_ENST00000594975.1_Missense_Mutation_p.E539K|EPS15L1_ENST00000455140.2_Missense_Mutation_p.E539K|EPS15L1_ENST00000602009.1_Missense_Mutation_p.E385K	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	539					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E539K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TGGTTGATTTCGTCTTGCGTT	0.582																																					p.E539K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1615A	19						.						140.0	119.0	126.0					19																	16514555		2203	4300	6503	16375555	SO:0001583	missense	58513	exon15			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1615G>A	19.37:g.16514555C>T	ENSP00000248070:p.Glu539Lys		16375555	NM_021235	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420640	0.62622	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	D;T;T	0.86366	-2.11;1.79;1.39	5.27	5.27	0.74061	.	0.052716	0.85682	D	0.000000	D	0.84951	0.5586	M	0.72894	2.215	0.80722	D	1	P;B;P;P;P;P	0.49961	0.806;0.195;0.784;0.93;0.806;0.665	B;B;B;B;B;B	0.36959	0.098;0.105;0.169;0.169;0.098;0.237	D	0.84686	0.0720	10	0.25106	T	0.35	.	17.8667	0.88797	0.0:1.0:0.0:0.0	.	539;539;538;539;539;539	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	K	539	ENSP00000393313:E539K;ENSP00000248070:E539K;ENSP00000440103:E539K	ENSP00000248070:E539K	E	-	1	0	EPS15L1	16375555	1.000000	0.71417	0.620000	0.29132	0.212000	0.24457	7.666000	0.83877	2.465000	0.83290	0.591000	0.81541	GAA		0.582	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	
SLC35E1	79939	broad.mit.edu	37	19	16677453	16677453	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:16677453G>A	ENST00000595753.1	-	4	663	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	SLC35E1_ENST00000431408.1_Missense_Mutation_p.R60W|CTD-3222D19.2_ENST00000409035.1_Silent_p.H409H|CTD-3222D19.10_ENST00000597851.1_RNA	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	216					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R72W(1)		central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGGTGGATCCGTGAATCTCGC	0.537																																					p.R216W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C646T	19						.						88.0	86.0	87.0					19																	16677453		2203	4300	6503	16538453	SO:0001583	missense	79939	exon4			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.646C>T	19.37:g.16677453G>A	ENSP00000470652:p.Arg216Trp		16538453	NM_024881	Q8NBQ2|Q96JV7	Missense_Mutation	SNP	ENST00000595753.1	37	CCDS12346.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173409	0.38413	.	.	ENSG00000127526	ENST00000409648;ENST00000436553;ENST00000431408	T;T	0.63913	-0.07;-0.07	5.16	1.6	0.23607	Domain of unknown function DUF250 (1);	0.053697	0.64402	D	0.000001	T	0.72946	0.3524	M	0.69823	2.125	0.50313	D	0.999869	D;D	0.76494	0.999;0.999	P;P	0.60609	0.877;0.809	T	0.76443	-0.2957	10	0.87932	D	0	-24.1834	13.1748	0.59619	0.0:0.0:0.545:0.455	.	216;72	Q96K37;Q9H7U6	S35E1_HUMAN;.	W	216;150;60	ENSP00000400435:R150W;ENSP00000397670:R60W	ENSP00000387152:R216W	R	-	1	2	SLC35E1	16538453	0.722000	0.28017	0.460000	0.27093	0.319000	0.28217	0.878000	0.28126	0.502000	0.28037	0.655000	0.94253	CGG		0.537	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881	
SLC27A1	376497	broad.mit.edu	37	19	17611658	17611658	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:17611658G>A	ENST00000252595.7	+	10	1706	c.1609G>A	c.(1609-1611)Gtg>Atg	p.V537M	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000442725.1_Missense_Mutation_p.V537M|SLC27A1_ENST00000598424.1_Missense_Mutation_p.V358M	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	537					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V537M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCAGACAGACGTGGCCGTCTA	0.657																																					p.V537M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1609A	19						.						36.0	38.0	37.0					19																	17611658		2203	4300	6503	17472658	SO:0001583	missense	376497	exon10			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1609G>A	19.37:g.17611658G>A	ENSP00000252595:p.Val537Met		17472658	NM_198580	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108974	0.77096	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.60040	0.22;0.22	4.68	3.57	0.40892	AMP-dependent synthetase/ligase (1);	0.133856	0.49916	D	0.000125	T	0.79215	0.4408	M	0.92784	3.345	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.83406	0.0025	10	0.72032	D	0.01	-18.7711	11.2347	0.48933	0.0:0.0:0.8161:0.1839	.	358;537	B7Z662;Q6PCB7	.;S27A1_HUMAN	M	537	ENSP00000413424:V537M;ENSP00000252595:V537M	ENSP00000252595:V537M	V	+	1	0	SLC27A1	17472658	1.000000	0.71417	0.981000	0.43875	0.974000	0.67602	7.381000	0.79718	2.154000	0.67381	0.561000	0.74099	GTG		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
UNC13A	23025	broad.mit.edu	37	19	17749897	17749897	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:17749897C>T	ENST00000519716.2	-	25	3075	c.3076G>A	c.(3076-3078)Gac>Aac	p.D1026N	UNC13A_ENST00000552293.1_Missense_Mutation_p.D1026N|UNC13A_ENST00000428389.2_Missense_Mutation_p.D1114N|UNC13A_ENST00000252773.7_Missense_Mutation_p.D1026N|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1024N|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1026N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1026					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.D1026N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCACCGGGTCTGTCTGGTAC	0.522																																					p.D1026N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3076A	19						.						28.0	29.0	29.0					19																	17749897		1995	4190	6185	17610897	SO:0001583	missense	23025	exon24			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3076G>A	19.37:g.17749897C>T	ENSP00000429562:p.Asp1026Asn		17610897	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711089	0.30322	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;D;T;T;T;T	0.81499	-1.49;-1.5;-1.49;-1.37;-1.36;-1.49	3.39	2.34	0.29019	Calcium-dependent secretion activator (1);	0.206543	0.38492	U	0.001671	T	0.70176	0.3194	L	0.41573	1.285	0.42362	D	0.992415	B	0.18013	0.025	B	0.21360	0.034	T	0.63014	-0.6731	10	0.40728	T	0.16	.	8.637	0.33955	0.0:0.8786:0.0:0.1214	.	1026	Q9UPW8	UN13A_HUMAN	N	1026;1114;1026;1026;1026;1024	ENSP00000429562:D1026N;ENSP00000400409:D1114N;ENSP00000252773:D1026N;ENSP00000447236:D1026N;ENSP00000447572:D1026N;ENSP00000446831:D1024N	ENSP00000252773:D1026N	D	-	1	0	UNC13A	17610897	1.000000	0.71417	0.021000	0.16686	0.926000	0.56050	5.468000	0.66743	0.561000	0.29186	0.478000	0.44815	GAC		0.522	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
UNC13A	23025	broad.mit.edu	37	19	17756912	17756912	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:17756912C>T	ENST00000519716.2	-	18	2052	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	UNC13A_ENST00000552293.1_Missense_Mutation_p.A685T|UNC13A_ENST00000428389.2_Missense_Mutation_p.A773T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A685T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A683T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A685T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	685	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A685T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGCCCTGGGCGCAGACCACT	0.557																																					p.A685T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2053A	19						.						67.0	66.0	66.0					19																	17756912		2078	4249	6327	17617912	SO:0001583	missense	23025	exon17			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2053G>A	19.37:g.17756912C>T	ENSP00000429562:p.Ala685Thr		17617912	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052219	0.75960	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.47	3.47	0.39725	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.93598	0.7956	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94841	0.8005	10	0.87932	D	0	-20.1126	12.8397	0.57794	0.0:1.0:0.0:0.0	.	685	Q9UPW8	UN13A_HUMAN	T	685;773;685;685;685;683	ENSP00000429562:A685T;ENSP00000400409:A773T;ENSP00000252773:A685T;ENSP00000447236:A685T;ENSP00000447572:A685T;ENSP00000446831:A683T	ENSP00000252773:A685T	A	-	1	0	UNC13A	17617912	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	7.595000	0.82710	1.688000	0.51068	0.306000	0.20318	GCC		0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
FCHO1	23149	broad.mit.edu	37	19	17887057	17887057	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:17887057G>A	ENST00000596536.1	+	17	1467	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	FCHO1_ENST00000252771.7_Splice_Site_p.G395D|FCHO1_ENST00000597512.1_Splice_Site_p.G402D|FCHO1_ENST00000596951.1_Splice_Site_p.G395D|FCHO1_ENST00000539407.1_Splice_Site_p.G395D|FCHO1_ENST00000389133.4_Splice_Site_p.G395D|FCHO1_ENST00000600676.1_Splice_Site_p.G395D|FCHO1_ENST00000594202.1_Splice_Site_p.G395D|FCHO1_ENST00000595033.1_Splice_Site_p.G345D	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	395	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)	p.G395D(1)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGTCCACAGGGCACCATGAAA	0.567																																					p.G345D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034A	19						.						306.0	251.0	270.0					19																	17887057		2203	4300	6503	17748057	SO:0001630	splice_region_variant	23149	exon15			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1183-1G>A	19.37:g.17887057G>A			17748057	NM_001161359	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713983	0.68730	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.37411	1.2;1.2;1.2	4.74	4.74	0.60224	.	0.148859	0.43260	D	0.000593	T	0.43411	0.1246	L	0.46157	1.445	0.51012	D	0.999901	D;D	0.67145	0.994;0.996	P;P	0.56343	0.63;0.796	T	0.15206	-1.0445	10	0.18276	T	0.48	-24.9087	13.226	0.59914	0.0:0.0:1.0:0.0	.	395;395	O14526;O14526-2	FCHO1_HUMAN;.	D	395	ENSP00000252771:G395D;ENSP00000373785:G395D;ENSP00000437978:G395D	ENSP00000252771:G395D	G	+	2	0	FCHO1	17748057	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.093000	0.57714	2.163000	0.67991	0.561000	0.74099	GGC		0.567	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122	Missense_Mutation
JAK3	3718	broad.mit.edu	37	19	17943428	17943428	+	Silent	SNP	G	G	A	rs201157971		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:17943428G>A	ENST00000527670.1	-	18	2609	c.2580C>T	c.(2578-2580)agC>agT	p.S860S	JAK3_ENST00000458235.1_Silent_p.S860S|JAK3_ENST00000534444.1_Silent_p.S860S			P52333	JAK3_HUMAN	Janus kinase 3	860	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S860S(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGTCTGGCCCGCTGTGCTGCA	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		20663	0.001		0.0	False		,,,				2504	0.0				p.S860S			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C2580T	19						.						85.0	73.0	77.0					19																	17943428		2203	4300	6503	17804428	SO:0001819	synonymous_variant	3718	exon19			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2580C>T	19.37:g.17943428G>A			17804428	NM_000215	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	CCDS12366.1																																																																																				0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
KIAA1683	80726	broad.mit.edu	37	19	18377387	18377387	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:18377387C>A	ENST00000600328.3	-	3	1156	c.963G>T	c.(961-963)gaG>gaT	p.E321D	KIAA1683_ENST00000392413.4_Missense_Mutation_p.E321D|KIAA1683_ENST00000600359.3_Missense_Mutation_p.E275D			Q9H0B3	K1683_HUMAN	KIAA1683	321						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E321D(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTTGGGGGTCTCTGCTTTCA	0.562																																					p.E321D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G963T	19						.						79.0	83.0	82.0					19																	18377387		2203	4300	6503	18238387	SO:0001583	missense	80726	exon3			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.963G>T	19.37:g.18377387C>A	ENSP00000470780:p.Glu321Asp		18238387	NM_025249	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016736	0.35606	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.03717	3.86;3.9;3.83	4.34	2.01	0.26516	.	0.188788	0.25935	N	0.027357	T	0.01870	0.0059	N	0.20986	0.625	0.09310	N	1	P;P	0.37015	0.578;0.578	B;B	0.28709	0.093;0.093	T	0.47573	-0.9107	10	0.25106	T	0.35	-27.2728	3.6785	0.08301	0.2596:0.605:0.0:0.1354	.	321;321	E9PDE0;Q9H0B3	.;K1683_HUMAN	D	321;321;275;320	ENSP00000376213:E321D;ENSP00000352774:E321D;ENSP00000404501:E275D	ENSP00000351198:E320D	E	-	3	2	KIAA1683	18238387	0.001000	0.12720	0.122000	0.21767	0.030000	0.12068	0.443000	0.21644	0.980000	0.38523	0.563000	0.77884	GAG		0.562	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
COPE	11316	broad.mit.edu	37	19	19017872	19017872	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:19017872C>T	ENST00000262812.4	-	4	388	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	COPE_ENST00000349893.4_Missense_Mutation_p.V114M|COPE_ENST00000598969.1_Intron|AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000351079.4_Intron|COPE_ENST00000600932.1_Missense_Mutation_p.V114M	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	114					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.V114M(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GTGTTGGTCACGTCCACGCTC	0.647																																					p.V114M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340A	19						.						132.0	73.0	93.0					19																	19017872		2202	4299	6501	18878872	SO:0001583	missense	11316	exon4			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.340G>A	19.37:g.19017872C>T	ENSP00000262812:p.Val114Met		18878872	NM_007263	A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	ENST00000262812.4	37	CCDS12387.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958580	0.74016	.	.	ENSG00000105669	ENST00000262812;ENST00000349893;ENST00000538245	T;T	0.44482	0.92;2.19	4.76	4.76	0.60689	Tetratricopeptide-like helical (1);	0.125321	0.53938	D	0.000041	T	0.50069	0.1594	L	0.60455	1.87	0.50467	D	0.999873	P;P;P	0.51653	0.862;0.947;0.921	B;P;B	0.54372	0.301;0.75;0.222	T	0.49303	-0.8954	10	0.46703	T	0.11	-40.0897	10.0856	0.42417	0.0:0.9061:0.0:0.0939	.	114;114;114	Q53HJ6;A6NE29;O14579	.;.;COPE_HUMAN	M	114;114;113	ENSP00000262812:V114M;ENSP00000343134:V114M	ENSP00000262812:V114M	V	-	1	0	COPE	18878872	0.992000	0.36948	0.999000	0.59377	0.835000	0.47333	3.053000	0.49901	2.190000	0.69967	0.561000	0.74099	GTG		0.647	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263	
DDX49	54555	broad.mit.edu	37	19	19035498	19035498	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:19035498G>A	ENST00000247003.4	+	8	986	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	DDX49_ENST00000599156.1_3'UTR|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_Missense_Mutation_p.V200M	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	307	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.V307M(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CGCAACAGACGTGGCCTCCCG	0.567																																					p.V307M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G919A	19						.						82.0	82.0	82.0					19																	19035498		2203	4300	6503	18896498	SO:0001583	missense	54555	exon8				CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.919G>A	19.37:g.19035498G>A	ENSP00000247003:p.Val307Met		18896498	NM_019070	E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621145	0.87460	.	.	ENSG00000105671	ENST00000247003;ENST00000438170	T;T	0.78924	-1.22;-1.22	4.77	4.77	0.60923	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93224	0.6611	10	0.87932	D	0	-28.6834	16.7798	0.85560	0.0:0.0:1.0:0.0	.	307;307	A8K7A1;Q9Y6V7	.;DDX49_HUMAN	M	307;200	ENSP00000247003:V307M;ENSP00000395377:V200M	ENSP00000247003:V307M	V	+	1	0	DDX49	18896498	1.000000	0.71417	0.925000	0.36789	0.944000	0.59088	6.096000	0.71446	2.183000	0.69458	0.561000	0.74099	GTG		0.567	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070	
NCAN	1463	broad.mit.edu	37	19	19329864	19329864	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:19329864G>T	ENST00000252575.6	+	3	313	c.214G>T	c.(214-216)Gat>Tat	p.D72Y		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	72	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.D72Y(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CGCAGCCCGAGATGCCCCTCG	0.652																																					p.D72Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214T	19						.						45.0	42.0	43.0					19																	19329864		2203	4300	6503	19190864	SO:0001583	missense	1463	exon3			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.214G>T	19.37:g.19329864G>T	ENSP00000252575:p.Asp72Tyr		19190864	NM_004386	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783397	0.49891	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.66815	-0.23	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.397301	0.18430	N	0.141468	T	0.76234	0.3959	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.77081	-0.2720	10	0.52906	T	0.07	.	14.8061	0.69956	0.0:0.0:1.0:0.0	.	72	O14594	NCAN_HUMAN	Y	86;72	ENSP00000252575:D72Y	ENSP00000252575:D72Y	D	+	1	0	NCAN	19190864	1.000000	0.71417	0.030000	0.17652	0.214000	0.24535	5.964000	0.70379	2.060000	0.61445	0.491000	0.48974	GAT		0.652	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
NCAN	1463	broad.mit.edu	37	19	19335156	19335156	+	Missense_Mutation	SNP	G	G	A	rs564199075		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:19335156G>A	ENST00000252575.6	+	5	791	c.692G>A	c.(691-693)cGt>cAt	p.R231H	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	231	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R231H(2)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TATGGCGACCGTAGCAGCCTT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		15951	0.0		0.001	False		,,,				2504	0.0				p.R231H												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G692A	19						.						143.0	132.0	135.0					19																	19335156		2203	4300	6503	19196156	SO:0001583	missense	1463	exon5			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.692G>A	19.37:g.19335156G>A	ENSP00000252575:p.Arg231His		19196156	NM_004386	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227873	0.95173	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.09630	2.96	4.83	4.83	0.62350	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.483161	0.15566	N	0.255685	T	0.27731	0.0682	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00695	-1.1606	10	0.54805	T	0.06	.	15.4278	0.75069	0.0:0.0:1.0:0.0	.	231	O14594	NCAN_HUMAN	H	245;231	ENSP00000252575:R231H	ENSP00000252575:R231H	R	+	2	0	NCAN	19196156	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.938000	0.48987	2.240000	0.73641	0.561000	0.74099	CGT		0.597	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
CILP2	148113	broad.mit.edu	37	19	19654086	19654086	+	Missense_Mutation	SNP	G	G	A	rs188436574	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:19654086G>A	ENST00000291495.5	+	7	1092	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	CILP2_ENST00000586018.1_Missense_Mutation_p.R342Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	336	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R336Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTGGACAGGCGAGCTCATGGG	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		16655	0.0		0.002	False		,,,				2504	0.0				p.R336Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007A	19						.						40.0	46.0	44.0					19																	19654086		2203	4300	6503	19515086	SO:0001583	missense	148113	exon7			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1007G>A	19.37:g.19654086G>A	ENSP00000291495:p.Arg336Gln		19515086	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	6	0.0027472527472527475	4	0.008130081300813009	0	0.0	0	0.0	2	0.002638522427440633	G	10.06	1.247093	0.22796	.	.	ENSG00000160161	ENST00000291495	T	0.11821	2.74	4.79	1.07	0.20283	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.265665	0.35615	N	0.003087	T	0.04952	0.0133	L	0.28649	0.875	0.09310	N	0.99999	B;B	0.25667	0.076;0.131	B;B	0.22753	0.041;0.031	T	0.23476	-1.0187	10	0.30078	T	0.28	-11.9275	3.2716	0.06884	0.3176:0.2082:0.4742:0.0	.	336;336	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	336	ENSP00000291495:R336Q	ENSP00000291495:R336Q	R	+	2	0	CILP2	19515086	0.000000	0.05858	0.610000	0.28997	0.324000	0.28378	0.425000	0.21346	1.041000	0.40125	-0.330000	0.08379	CGA		0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
ZNF14	7561	broad.mit.edu	37	19	19822283	19822283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:19822283G>A	ENST00000344099.3	-	4	1945	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	603					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.R603*(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)				TCATGAATTCGAACAGAACTT	0.408																																					p.R603X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1807T	19						.						74.0	73.0	73.0					19																	19822283		2203	4300	6503	19683283	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.1807C>T	19.37:g.19822283G>A	ENSP00000340514:p.Arg603*		19683283	NM_021030	B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	37	6.163952	0.97338	.	.	ENSG00000105708	ENST00000344099	.	.	.	1.24	0.165	0.14995	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999792	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	5.2779	0.15659	0.2191:0.0:0.7809:0.0	.	.	.	.	X	603	.	ENSP00000340514:R603X	R	-	1	2	ZNF14	19683283	0.000000	0.05858	0.001000	0.08648	0.995000	0.86356	0.319000	0.19522	0.083000	0.17047	0.467000	0.42956	CGA		0.408	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-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	
ZNF506	440515	broad.mit.edu	37	19	19905399	19905399	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:19905399G>A	ENST00000540806.2	-	4	1385	c.1297C>T	c.(1297-1299)Ctt>Ttt	p.L433F	ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.L401F|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.L433F|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L433F(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ACATTTAAAAGATTTTCCACA	0.363																																					p.L401F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1201T	19						.						75.0	81.0	79.0					19																	19905399		2064	4228	6292	19766399	SO:0001583	missense	440515	exon3			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1297C>T	19.37:g.19905399G>A	ENSP00000440625:p.Leu433Phe		19766399	NM_001145404	B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.891023	0.00527	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.06849	3.32;3.32;3.25	1.08	-1.51	0.08664	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	P;P	0.44578	0.838;0.565	B;B	0.35413	0.202;0.062	T	0.39563	-0.9608	9	0.87932	D	0	.	6.4403	0.21847	0.0:0.3085:0.6915:0.0	.	433;401	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	F	433;433;401	ENSP00000393835:L433F;ENSP00000440625:L433F;ENSP00000408892:L401F	ENSP00000393835:L433F	L	-	1	0	ZNF506	19766399	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.262000	0.08682	-0.494000	0.06669	-0.494000	0.04653	CTT		0.363	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218	
ZNF708	7562	broad.mit.edu	37	19	21476113	21476113	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:21476113C>A	ENST00000356929.3	-	4	1852	c.1655G>T	c.(1654-1656)aGa>aTa	p.R552I		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	488					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.R552I(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						GGTATGAATTCTCTTATGTTT	0.318																																					p.R552I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1655T	19						.						61.0	67.0	65.0					19																	21476113		2202	4300	6502	21267953	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.1655G>T	19.37:g.21476113C>A	ENSP00000349401:p.Arg552Ile		21267953	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	8.958	0.969950	0.18659	.	.	ENSG00000182141	ENST00000356929	T	0.24908	1.83	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27169	0.0666	M	0.77712	2.385	0.46499	D	0.999071	B	0.02656	0.0	B	0.04013	0.001	T	0.07520	-1.0768	9	0.32370	T	0.25	.	8.9689	0.35894	0.0:1.0:0.0:0.0	.	552	P17019	ZN708_HUMAN	I	552	ENSP00000349401:R552I	ENSP00000349401:R552I	R	-	2	0	ZNF708	21267953	0.000000	0.05858	0.505000	0.27651	0.472000	0.32918	-0.937000	0.03942	0.482000	0.27582	0.485000	0.47835	AGA		0.318	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269	
ZNF43	7594	broad.mit.edu	37	19	21992291	21992291	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:21992291A>C	ENST00000354959.4	-	4	717	c.548T>G	c.(547-549)tTt>tGt	p.F183C	ZNF43_ENST00000598381.1_Missense_Mutation_p.F177C|ZNF43_ENST00000595461.1_Missense_Mutation_p.F177C|ZNF43_ENST00000594012.1_Missense_Mutation_p.F177C	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F183C(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)		AAGCATGCAAAATGATTTGCC	0.313																																					p.F183C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T548G	19						.						42.0	42.0	42.0					19																	21992291		2202	4299	6501	21784131	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.548T>G	19.37:g.21992291A>C	ENSP00000347045:p.Phe183Cys		21784131	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628194	0.28978	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.41758	0.99	0.757	0.757	0.18427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62696	0.2449	M	0.85945	2.785	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47686	-0.9098	9	0.59425	D	0.04	.	7.0235	0.24926	1.0:0.0:0.0:0.0	.	183	P17038	ZNF43_HUMAN	C	182;183	ENSP00000347045:F183C	ENSP00000347045:F183C	F	-	2	0	ZNF43	21784131	0.967000	0.33354	0.013000	0.15412	0.064000	0.16182	2.488000	0.45276	0.562000	0.29204	0.397000	0.26171	TTT		0.313	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF208	7757	broad.mit.edu	37	19	22156098	22156098	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:22156098G>A	ENST00000397126.4	-	4	1886	c.1738C>T	c.(1738-1740)Ccc>Tcc	p.P580S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	580					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.P580S(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)				CATTTGTAGGGTTTCTCTACA	0.358																																					p.P580S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1738T	19						.						29.0	30.0	30.0					19																	22156098		1994	4186	6180	21947938	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.1738C>T	19.37:g.22156098G>A	ENSP00000380315:p.Pro580Ser		21947938	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927330	0.34002	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.55930	0.49	2.8	-1.38	0.09027	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61664	0.2365	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.51513	-0.8696	8	0.52906	T	0.07	.	3.0685	0.06222	0.1092:0.1732:0.5398:0.1779	.	480	O43345	ZN208_HUMAN	S	580;480	ENSP00000380315:P580S	ENSP00000380315:P580S	P	-	1	0	ZNF208	21947938	0.692000	0.27719	0.000000	0.03702	0.028000	0.11728	4.070000	0.57548	-0.719000	0.04942	-0.676000	0.03789	CCC		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF98	148198	broad.mit.edu	37	19	22574927	22574927	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:22574927T>C	ENST00000357774.5	-	4	1231	c.1110A>G	c.(1108-1110)agA>agG	p.R370R		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	370					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.R370R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGAATGAATTCTCTTATGTG	0.378																																					p.R370R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1110G	19						.						20.0	21.0	20.0					19																	22574927		2048	4200	6248	22366767	SO:0001819	synonymous_variant	148198	exon4				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1110A>G	19.37:g.22574927T>C			22366767	NM_001098626		Silent	SNP	ENST00000357774.5	37	CCDS46031.1																																																																																				0.378	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF492	57615	broad.mit.edu	37	19	22847041	22847041	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:22847041T>G	ENST00000456783.2	+	4	814	c.570T>G	c.(568-570)atT>atG	p.I190M	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	190					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.I190M(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATAAAAGAATTCATACTGGAA	0.368																																					p.I190M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T570G	19						.						25.0	30.0	28.0					19																	22847041		1983	4201	6184	22638881	SO:0001583	missense	57615	exon4			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.570T>G	19.37:g.22847041T>G	ENSP00000413660:p.Ile190Met		22638881	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.506003	0.26949	.	.	ENSG00000229676	ENST00000456783	T	0.08720	3.06	1.3	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16557	0.0398	L	0.48260	1.515	0.23602	N	0.99732	D	0.89917	1.0	D	0.97110	1.0	T	0.12889	-1.0530	9	0.62326	D	0.03	.	5.2884	0.15714	0.0:0.381:0.0:0.619	.	190	Q9P255	ZN492_HUMAN	M	190	ENSP00000413660:I190M	ENSP00000413660:I190M	I	+	3	3	ZNF492	22638881	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-1.707000	0.01893	-0.406000	0.07588	0.228000	0.17796	ATT		0.368	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
ZNF99	7652	broad.mit.edu	37	19	22940502	22940502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:22940502C>A	ENST00000596209.1	-	4	2299	c.2209G>T	c.(2209-2211)Gaa>Taa	p.E737*	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Nonsense_Mutation_p.E646*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	737					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.E646*(1)		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)				TTACCACATTCTTCACATTTG	0.378																																					p.E646X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1936T	19						.						28.0	29.0	28.0					19																	22940502		1879	4014	5893	22732342	SO:0001587	stop_gained	7652	exon5			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2209G>T	19.37:g.22940502C>A	ENSP00000472969:p.Glu737*		22732342	NM_001080409	M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	14.88	2.668705	0.47677	.	.	ENSG00000213973	ENST00000397104	.	.	.	0.726	-0.512	0.11966	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	8.0824	0.30752	0.0:0.7503:0.2497:0.0	.	.	.	.	X	646	.	ENSP00000380293:E646X	E	-	1	0	ZNF99	22732342	0.000000	0.05858	0.010000	0.14722	0.120000	0.20174	-0.611000	0.05622	-0.167000	0.10871	-1.294000	0.01345	GAA		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF99	7652	broad.mit.edu	37	19	22941049	22941049	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:22941049T>G	ENST00000596209.1	-	4	1752	c.1662A>C	c.(1660-1662)aaA>aaC	p.K554N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K463N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	554					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.K463N(1)		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)				TTATCTTATGTTTCATAAGGG	0.333																																					p.K463N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1389C	19						.						41.0	44.0	43.0					19																	22941049		2051	4220	6271	22732889	SO:0001583	missense	7652	exon5			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1662A>C	19.37:g.22941049T>G	ENSP00000472969:p.Lys554Asn		22732889	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.074	-1.197126	0.01594	.	.	ENSG00000213973	ENST00000397104	T	0.20598	2.06	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	L	0.39326	1.205	0.20926	N	0.99983	D	0.53745	0.962	P	0.57620	0.824	T	0.15009	-1.0452	9	0.17832	T	0.49	.	2.2833	0.04120	0.2748:0.0:0.2775:0.4478	.	463	A8MXY4	ZNF99_HUMAN	N	463	ENSP00000380293:K463N	ENSP00000380293:K463N	K	-	3	2	ZNF99	22732889	0.000000	0.05858	0.009000	0.14445	0.010000	0.07245	-5.908000	0.00091	0.569000	0.29329	0.329000	0.21502	AAA		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
MIER2	54531	broad.mit.edu	37	19	327988	327988	+	Splice_Site	SNP	C	C	T	rs201575790		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:327988C>T	ENST00000264819.4	-	4	255	c.245G>A	c.(244-246)aGc>aAc	p.S82N	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S82N(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)		CATGTCGTTGCTCTGAGTTGG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21128	0.0		0.0	False		,,,				2504	0.0				p.S82N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G245A	19						.						98.0	75.0	82.0					19																	327988		2203	4300	6503	278988	SO:0001630	splice_region_variant	54531	exon4			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.244-1G>A	19.37:g.327988C>T			278988	NM_017550	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	17.25	3.342485	0.61073	.	.	ENSG00000105556	ENST00000264819	T	0.21932	1.98	5.01	3.97	0.46021	.	0.224087	0.31134	N	0.008184	T	0.35393	0.0930	M	0.63428	1.95	0.46336	D	0.99899	D	0.63880	0.993	P	0.58391	0.838	T	0.09465	-1.0673	10	0.72032	D	0.01	-16.2681	10.1858	0.42998	0.0:0.9089:0.0:0.0911	.	82	Q8N344	MIER2_HUMAN	N	82	ENSP00000264819:S82N	ENSP00000264819:S82N	S	-	2	0	MIER2	278988	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	2.285000	0.43487	2.328000	0.79073	0.563000	0.77884	AGC		0.622	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843	Missense_Mutation
THEG	51298	broad.mit.edu	37	19	367160	367160	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:367160T>G	ENST00000342640.4	-	7	860	c.818A>C	c.(817-819)aAg>aCg	p.K273T	THEG_ENST00000346878.2_Missense_Mutation_p.K249T	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	273					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.K273T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTCGGCTTTGACAACTG	0.567																																					p.K249T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A746C	19						.						99.0	102.0	101.0					19																	367160		2203	4300	6503	318160	SO:0001583	missense	51298	exon6			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.818A>C	19.37:g.367160T>G	ENSP00000340088:p.Lys273Thr		318160	NM_199202	A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.632|6.632	0.485006|0.485006	0.12641|0.12641	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000342640;ENST00000346878|ENST00000530711	T;T|.	0.35605|.	1.3;1.3|.	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	2.584790|.	0.01067|.	N|.	0.004754|.	T|T	0.48187|0.48187	0.1486|0.1486	M|M	0.64997|0.64997	1.995|1.995	0.23589|0.23589	N|N	0.99734|0.99734	B;P|.	0.37731|.	0.376;0.607|.	B;B|.	0.41764|.	0.208;0.366|.	T|T	0.41840|0.41840	-0.9486|-0.9486	10|6	0.54805|0.87932	T|D	0.06|0	1.0159|1.0159	8.3741|8.3741	0.32432|0.32432	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	249;273|.	Q9P2T0-2;Q9P2T0|.	.;THEG_HUMAN|.	T|R	273;249|51	ENSP00000340088:K273T;ENSP00000264820:K249T|.	ENSP00000340088:K273T|ENSP00000431699:S51R	K|S	-|-	2|1	0|0	THEG|THEG	318160|318160	1.000000|1.000000	0.71417|0.71417	0.400000|0.400000	0.26346|0.26346	0.014000|0.014000	0.08584|0.08584	1.364000|1.364000	0.34171|0.34171	1.745000|1.745000	0.51790|0.51790	0.454000|0.454000	0.30748|0.30748	AAG|AGC		0.567	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		
ZNF556	80032	broad.mit.edu	37	19	2877779	2877779	+	Nonsense_Mutation	SNP	C	C	T	rs139842259		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:2877779C>T	ENST00000307635.2	+	4	910	c.823C>T	c.(823-825)Cga>Tga	p.R275*	ZNF556_ENST00000586426.1_Nonsense_Mutation_p.R274*	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	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)	p.R275*(3)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAAATCCTTTCGAGTCCATAT	0.527																																					p.R275X												.	.	3	Substitution - Nonsense(3)	large_intestine(2)|lung(1)	c.C823T	19						.	C	stop/ARG	0,4406		0,0,2203	60.0	55.0	56.0		823	-0.8	0.0	19	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	ZNF556	NM_024967.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		275/457	2877779	2,13004	2203	4300	6503	2828779	SO:0001587	stop_gained	80032	exon4			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.823C>T	19.37:g.2877779C>T	ENSP00000302603:p.Arg275*		2828779	NM_024967	Q96GM3	Nonsense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391829	0.42410	0.0	2.33E-4	ENSG00000172000	ENST00000307635	.	.	.	1.97	-0.761	0.11038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.4808	0.27404	0.6644:0.3356:0.0:0.0	.	.	.	.	X	275	.	ENSP00000302603:R275X	R	+	1	2	ZNF556	2828779	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.060000	0.11712	-0.271000	0.09272	-0.723000	0.03601	CGA		0.527	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
ZNF556	80032	broad.mit.edu	37	19	2878237	2878237	+	Silent	SNP	C	C	T	rs540339084		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:2878237C>T	ENST00000307635.2	+	4	1368	c.1281C>T	c.(1279-1281)tgC>tgT	p.C427C	ZNF556_ENST00000586426.1_Silent_p.C426C	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	427					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.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CCAGTAAATGCGAAAAATGTG	0.448																																					p.C427C												.	.	4	Substitution - coding silent(4)	large_intestine(2)|prostate(1)|endometrium(1)	c.C1281T	19						.						101.0	112.0	108.0					19																	2878237		2203	4300	6503	2829237	SO:0001819	synonymous_variant	80032	exon4			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1281C>T	19.37:g.2878237C>T			2829237	NM_024967	Q96GM3	Silent	SNP	ENST00000307635.2	37	CCDS12097.1																																																																																				0.448	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
ZNF91	7644	broad.mit.edu	37	19	23543832	23543832	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:23543832C>A	ENST00000300619.7	-	4	2154	c.1949G>T	c.(1948-1950)aGa>aTa	p.R650I	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.R618I	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	650					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.R650I(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTATGAATTCTCTTATGTTT	0.383																																					p.R650I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1949T	19						.						57.0	60.0	59.0					19																	23543832		2098	4239	6337	23335672	SO:0001583	missense	7644	exon4			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1949G>T	19.37:g.23543832C>A	ENSP00000300619:p.Arg650Ile		23335672	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	8.202	0.798314	0.16397	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.24908	1.83;1.83	1.71	0.586	0.17434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17619	0.0423	L	0.47190	1.495	0.44771	D	0.997773	B;P	0.38455	0.445;0.632	B;B	0.30572	0.071;0.117	T	0.04255	-1.0965	9	0.48119	T	0.1	.	8.1214	0.30974	0.2433:0.7567:0.0:0.0	.	618;650	Q05481-2;Q05481	.;ZNF91_HUMAN	I	650;618	ENSP00000300619:R650I;ENSP00000380272:R618I	ENSP00000300619:R650I	R	-	2	0	ZNF91	23335672	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-2.082000	0.01365	0.055000	0.16094	-1.048000	0.02349	AGA		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
CCNE1	898	broad.mit.edu	37	19	30313016	30313016	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:30313016A>C	ENST00000262643.3	+	9	1098	c.819A>C	c.(817-819)caA>caC	p.Q273H	CCNE1_ENST00000357943.5_Missense_Mutation_p.Q230H|CCNE1_ENST00000444983.2_Missense_Mutation_p.Q258H	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	273					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.Q273H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCCCCAGCAAATCTTTATAC	0.493			A		serous ovarian																																p.Q258H			Dom	yes		19	19q12	898	cyclin E1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A774C	19						.						121.0	113.0	116.0					19																	30313016		2203	4300	6503	35004856	SO:0001583	missense	898	exon7			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.819A>C	19.37:g.30313016A>C	ENSP00000262643:p.Gln273His		35004856	NM_057182	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	A	7.189	0.591073	0.13812	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.22743	1.94;1.94;1.94	6.17	-12.3	0.00002	Cyclin, C-terminal (1);Cyclin-like (1);	0.275694	0.40554	N	0.001068	T	0.11623	0.0283	L	0.27053	0.805	0.24941	N	0.991856	B	0.21905	0.062	B	0.19148	0.024	T	0.10894	-1.0610	10	0.37606	T	0.19	.	20.0591	0.97667	0.225:0.0772:0.6978:0.0	.	273	P24864	CCNE1_HUMAN	H	273;230;258	ENSP00000262643:Q273H;ENSP00000350625:Q230H;ENSP00000410179:Q258H	ENSP00000262643:Q273H	Q	+	3	2	CCNE1	35004856	0.008000	0.16893	0.013000	0.15412	0.801000	0.45260	-0.823000	0.04443	-2.680000	0.00409	-0.242000	0.12053	CAA		0.493	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238	
URI1	8725	broad.mit.edu	37	19	30496605	30496605	+	Silent	SNP	C	C	T	rs78325360	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:30496605C>T	ENST00000542441.2	+	6	804	c.507C>T	c.(505-507)ttC>ttT	p.F169F	URI1_ENST00000312051.6_Silent_p.F129F|URI1_ENST00000574176.1_3'UTR|URI1_ENST00000392271.1_Silent_p.F93F|URI1_ENST00000360605.4_Silent_p.F151F			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	169					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.F169F(2)									AATGTGACTTCGAATTTAAAG	0.318													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17521	0.002		0.0	False		,,,				2504	0.0				p.F169F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C507T	19						.						127.0	128.0	127.0					19																	30496605		2203	4300	6503	35188445	SO:0001819	synonymous_variant	8725	exon6			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.507C>T	19.37:g.30496605C>T			35188445	NM_003796	A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	CCDS12420.1																																																																																				0.318	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	
ZFR2	23217	broad.mit.edu	37	19	3813930	3813930	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:3813930G>A	ENST00000262961.4	-	14	2140	c.2130C>T	c.(2128-2130)gtC>gtT	p.V710V		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	710	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V710V(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGTCGGAGGAGACCTCATACT	0.542																																					p.V710V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2130T	19						.						70.0	77.0	75.0					19																	3813930		2087	4207	6294	3764930	SO:0001819	synonymous_variant	23217	exon14			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2130C>T	19.37:g.3813930G>A			3764930	NM_015174		Silent	SNP	ENST00000262961.4	37	CCDS45921.1																																																																																				0.542	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174	
ZNF536	9745	broad.mit.edu	37	19	30934836	30934836	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:30934836G>A	ENST00000355537.3	+	2	514	c.367G>A	c.(367-369)Gac>Aac	p.D123N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	123					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.D123N(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)					CATCGAGGACGACGCCCGCAA	0.632																																					p.D123N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367A	19						.						67.0	53.0	58.0					19																	30934836		2203	4300	6503	35626676	SO:0001583	missense	9745	exon2				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.367G>A	19.37:g.30934836G>A	ENSP00000347730:p.Asp123Asn		35626676	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886538	0.33348	.	.	ENSG00000198597	ENST00000355537	T	0.09630	2.96	5.8	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.21761	0.0524	N	0.24115	0.695	0.44798	D	0.997803	D;D	0.89917	1.0;1.0	D;D	0.87578	0.92;0.998	T	0.04885	-1.0920	10	0.62326	D	0.03	-29.8637	16.889	0.86082	0.0:0.1282:0.8717:0.0	.	123;123	A7E228;O15090	.;ZN536_HUMAN	N	123	ENSP00000347730:D123N	ENSP00000347730:D123N	D	+	1	0	ZNF536	35626676	1.000000	0.71417	0.738000	0.30950	0.002000	0.02628	7.868000	0.87116	1.452000	0.47756	-0.302000	0.09304	GAC		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
EEF2	1938	broad.mit.edu	37	19	3978065	3978065	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:3978065G>A	ENST00000309311.6	-	12	1907	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	607					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)	p.R607W(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAAGGGCCGCGCCTTCATG	0.642																																					p.R607W	Colon(165;1804 1908 4071 6587 18799)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1819T	19						.						34.0	28.0	30.0					19																	3978065		2198	4299	6497	3929065	SO:0001583	missense	1938	exon12			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1819C>T	19.37:g.3978065G>A	ENSP00000307940:p.Arg607Trp		3929065	NM_001961	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997419	0.54147	.	.	ENSG00000167658	ENST00000309311	T	0.30714	1.52	5.61	3.44	0.39384	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.063541	0.64402	D	0.000006	T	0.27798	0.0684	M	0.71581	2.175	0.80722	D	1	D	0.54047	0.964	B	0.36766	0.232	T	0.09618	-1.0666	10	0.52906	T	0.07	-32.0805	9.304	0.37863	0.0766:0.0:0.7744:0.1489	.	607	P13639	EF2_HUMAN	W	607	ENSP00000307940:R607W	ENSP00000307940:R607W	R	-	1	2	EEF2	3929065	1.000000	0.71417	0.776000	0.31678	0.929000	0.56500	5.518000	0.67068	0.688000	0.31529	0.491000	0.48974	CGG		0.642	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961	
WDR88	126248	broad.mit.edu	37	19	33623191	33623191	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:33623191C>T	ENST00000355868.3	+	1	192	c.116C>T	c.(115-117)gCg>gTg	p.A39V	WDR88_ENST00000361680.2_Missense_Mutation_p.A39V|WDR88_ENST00000592765.1_Missense_Mutation_p.A39V	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	39								p.A39V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGGACCATGGCGAGGGCCTTA	0.672																																					p.A39V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C116T	19						.						66.0	64.0	64.0					19																	33623191		2203	4300	6503	38315031	SO:0001583	missense	126248	exon1			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.116C>T	19.37:g.33623191C>T	ENSP00000348129:p.Ala39Val		38315031	NM_173479	Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	C	0.942	-0.709158	0.03230	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.59083	0.6;0.29	3.73	-2.68	0.06041	.	.	.	.	.	T	0.20292	0.0488	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	9	0.02654	T	1	.	4.9779	0.14149	0.0:0.4499:0.1899:0.3601	.	39	Q6ZMY6	WDR88_HUMAN	V	39	ENSP00000348129:A39V;ENSP00000355148:A39V	ENSP00000348129:A39V	A	+	2	0	WDR88	38315031	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.145000	0.16157	-0.443000	0.07180	-0.683000	0.03753	GCG		0.672	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479	
ZBTB7A	51341	broad.mit.edu	37	19	4054020	4054020	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:4054020T>C	ENST00000322357.4	-	2	1489	c.1211A>G	c.(1210-1212)cAc>cGc	p.H404R	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.H404R	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	404					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)	p.H404R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCCCGTGTGGGTGCGGAT	0.657																																					p.H404R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1211G	19						.						59.0	55.0	56.0					19																	4054020		2203	4300	6503	4005020	SO:0001583	missense	51341	exon2			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1211A>G	19.37:g.4054020T>C	ENSP00000323670:p.His404Arg		4005020	NM_015898	D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850244	0.71719	.	.	ENSG00000178951	ENST00000322357	T	0.67523	-0.27	5.03	5.03	0.67393	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.91561	3.22	0.52501	D	0.999953	D	0.71674	0.998	D	0.69142	0.962	D	0.87864	0.2666	10	0.87932	D	0	.	13.5772	0.61881	0.0:0.0:0.0:1.0	.	404	O95365	ZBT7A_HUMAN	R	404	ENSP00000323670:H404R	ENSP00000323670:H404R	H	-	2	0	ZBTB7A	4005020	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.927000	0.87577	1.891000	0.54761	0.379000	0.24179	CAC		0.657	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898	
LSM14A	26065	broad.mit.edu	37	19	34712587	34712587	+	Missense_Mutation	SNP	C	C	T	rs149275422		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:34712587C>T	ENST00000433627.5	+	9	1387	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	LSM14A_ENST00000540746.2_Missense_Mutation_p.R397C|LSM14A_ENST00000544216.3_Missense_Mutation_p.R438C	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	438					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.R438C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TCGAGGATTTCGCGGTGGATT	0.542																																					p.R438C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1312T	19						.						86.0	66.0	73.0					19																	34712587		2203	4300	6503	39404427	SO:0001583	missense	26065	exon9			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1312C>T	19.37:g.34712587C>T	ENSP00000413964:p.Arg438Cys		39404427	NM_001114093	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591913	0.86953	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.18338	2.22;2.22;2.22	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	M	0.69823	2.125	0.80722	D	1	D;D;D	0.67145	0.988;0.993;0.996	B;B;P	0.50708	0.353;0.446;0.648	T	0.05084	-1.0907	10	0.87932	D	0	-10.1634	20.4008	0.98991	0.0:1.0:0.0:0.0	.	397;438;438	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	C	438;438;397	ENSP00000446271:R438C;ENSP00000413964:R438C;ENSP00000446451:R397C	ENSP00000314768:R438C	R	+	1	0	LSM14A	39404427	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.481000	0.66826	2.826000	0.97356	0.655000	0.94253	CGC		0.542	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578	
CD22	933	broad.mit.edu	37	19	35823639	35823639	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:35823639G>T	ENST00000085219.5	+	3	290	c.224G>T	c.(223-225)aGa>aTa	p.R75I	CD22_ENST00000536635.2_Missense_Mutation_p.R75I|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.R75I|CD22_ENST00000270311.6_5'UTR|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000594250.1_Missense_Mutation_p.R75I|CD22_ENST00000341773.6_Missense_Mutation_p.R75I|CD22_ENST00000419549.2_5'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	75	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)	p.R75I(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)			GATGGGACAAGACTCTATGAA	0.478																																					p.R75I	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224T	19						.						99.0	94.0	96.0					19																	35823639		2203	4300	6503	40515479	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.224G>T	19.37:g.35823639G>T	ENSP00000085219:p.Arg75Ile		40515479	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	2.871	-0.233983	0.05983	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.52	4.5	0.54988	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.814122	0.10605	N	0.655180	T	0.13670	0.0331	N	0.01109	-1.01	0.28831	N	0.897148	B;B;B;B	0.13594	0.002;0.008;0.0;0.0	B;B;B;B	0.09377	0.001;0.004;0.0;0.0	T	0.22312	-1.0220	10	0.22109	T	0.4	.	9.6894	0.40118	0.0:0.0:0.1789:0.8211	.	75;75;75;75	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	I	75	ENSP00000085219:R75I;ENSP00000442279:R75I;ENSP00000339349:R75I;ENSP00000441237:R75I	ENSP00000085219:R75I	R	+	2	0	CD22	40515479	0.004000	0.15560	0.046000	0.18839	0.005000	0.04900	0.945000	0.29056	0.936000	0.37367	-0.388000	0.06559	AGA		0.478	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
CD22	933	broad.mit.edu	37	19	35836011	35836011	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:35836011C>A	ENST00000085219.5	+	11	2256	c.2190C>A	c.(2188-2190)ttC>ttA	p.F730L	CD22_ENST00000536635.2_Missense_Mutation_p.F642L|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_Missense_Mutation_p.F730L|CD22_ENST00000270311.6_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.F553L|CD22_ENST00000341773.6_Missense_Mutation_p.F553L|CD22_ENST00000419549.2_Missense_Mutation_p.F558L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	730					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.F730L(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)			GCCAGAGCTTCTTTGTGAGGA	0.547																																					p.F730L	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2190A	19						.						62.0	66.0	65.0					19																	35836011		2203	4300	6503	40527851	SO:0001583	missense	933	exon11			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.2190C>A	19.37:g.35836011C>A	ENSP00000085219:p.Phe730Leu		40527851	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	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577918	0.65878	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000419549	T;T;T;T;T	0.54071	1.05;0.64;0.59;1.02;1.14	5.32	4.29	0.51040	.	0.000000	0.50627	D	0.000115	T	0.65668	0.2713	M	0.73962	2.25	0.35251	D	0.778746	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.996;1.0	P;D;D;P;D	0.87578	0.824;0.997;0.973;0.874;0.998	T	0.69599	-0.5102	10	0.11182	T	0.66	.	9.1114	0.36730	0.0:0.8964:0.0:0.1036	.	558;730;642;730;553	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	L	730;642;553;730;558	ENSP00000085219:F730L;ENSP00000442279:F642L;ENSP00000339349:F553L;ENSP00000441237:F730L;ENSP00000403822:F558L	ENSP00000085219:F730L	F	+	3	2	CD22	40527851	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	0.470000	0.22084	1.225000	0.43566	0.563000	0.77884	TTC		0.547	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
KMT2B	9757	broad.mit.edu	37	19	36211219	36211219	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:36211219G>A	ENST00000222270.7	+	3	970	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	KMT2B_ENST00000420124.1_Missense_Mutation_p.E324K|KMT2B_ENST00000341701.1_Missense_Mutation_p.E324K|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	324					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E324K(1)									CTTGGGACTCGAATCAGGTCA	0.532																																					p.E324K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	19						.						23.0	25.0	24.0					19																	36211219		1968	4139	6107	40903059	SO:0001583	missense	9757	exon3			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.970G>A	19.37:g.36211219G>A	ENSP00000222270:p.Glu324Lys		40903059	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273819	0.23221	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	T;T;T	0.50813	2.94;2.94;0.73	4.35	2.14	0.27477	.	0.199830	0.24224	U	0.040408	T	0.24044	0.0582	N	0.14661	0.345	0.28103	N	0.931333	B	0.10296	0.003	B	0.04013	0.001	T	0.12319	-1.0552	10	0.16896	T	0.51	.	6.3002	0.21109	0.1046:0.1877:0.7077:0.0	.	324	Q9UMN6	MLL4_HUMAN	K	324	ENSP00000222270:E324K;ENSP00000398837:E324K;ENSP00000345761:E324K	ENSP00000222270:E324K	E	+	1	0	AD000671.1	40903059	0.956000	0.32656	0.998000	0.56505	0.264000	0.26372	1.361000	0.34136	1.038000	0.40049	-0.371000	0.07208	GAA		0.532	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
ARHGAP33	115703	broad.mit.edu	37	19	36278268	36278268	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:36278268C>T	ENST00000007510.4	+	21	2945	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S773L|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S798L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	934					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.S773L(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTCCACCGCTCGCTGTCTCTG	0.716																																					p.S773L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2318T	19						.						25.0	28.0	27.0					19																	36278268		2203	4297	6500	40970108	SO:0001583	missense	115703	exon21			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2801C>T	19.37:g.36278268C>T	ENSP00000007510:p.Ser934Leu		40970108	NM_052948	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	C	10.41	1.341904	0.24339	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.16196	2.88;2.36;2.87	4.91	3.8	0.43715	.	0.133460	0.32459	N	0.006072	T	0.28532	0.0706	L	0.50333	1.59	0.39654	D	0.970508	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.56278	0.729;0.795;0.795	T	0.04255	-1.0965	10	0.51188	T	0.08	.	13.5528	0.61743	0.0:0.8422:0.1578:0.0	.	934;798;773	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	L	934;773;798	ENSP00000007510:S934L;ENSP00000320038:S773L;ENSP00000368227:S798L	ENSP00000007510:S934L	S	+	2	0	ARHGAP33	40970108	0.439000	0.25610	0.904000	0.35570	0.020000	0.10135	2.173000	0.42472	2.252000	0.74401	0.462000	0.41574	TCG		0.716	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948	
CAPNS1	826	broad.mit.edu	37	19	36640517	36640517	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:36640517A>C	ENST00000246533.3	+	10	1357	c.759A>C	c.(757-759)caA>caC	p.Q253H	CAPNS1_ENST00000588780.1_Missense_Mutation_p.Q263H|CAPNS1_ENST00000590874.1_Missense_Mutation_p.Q223H|CAPNS1_ENST00000589146.1_Missense_Mutation_p.Q79H|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.Q253H|CAPNS1_ENST00000588815.1_Missense_Mutation_p.Q253H	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	253	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.Q253H(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCACTGGACAAATCCAGGTGA	0.542																																					p.Q253H	Esophageal Squamous(129;1541 1691 5780 18353 34150)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A759C	19						.						90.0	82.0	85.0					19																	36640517		2203	4300	6503	41332357	SO:0001583	missense	826	exon10			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.759A>C	19.37:g.36640517A>C	ENSP00000246533:p.Gln253His		41332357	NM_001749	A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	a	9.849	1.193017	0.21954	.	.	ENSG00000126247	ENST00000246533	T	0.50548	0.74	5.25	1.53	0.23141	EF-hand-like domain (1);	0.269718	0.37053	N	0.002263	T	0.28566	0.0707	L	0.28556	0.865	0.43588	D	0.995936	B	0.16396	0.017	B	0.12156	0.007	T	0.05338	-1.0891	10	0.15499	T	0.54	.	6.8384	0.23949	0.503:0.0:0.497:0.0	.	253	P04632	CPNS1_HUMAN	H	253	ENSP00000246533:Q253H	ENSP00000246533:Q253H	Q	+	3	2	CAPNS1	41332357	0.723000	0.28027	1.000000	0.80357	0.998000	0.95712	0.106000	0.15354	0.368000	0.24481	0.533000	0.62120	CAA		0.542	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2		
ZNF260	339324	broad.mit.edu	37	19	37005035	37005035	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:37005035A>C	ENST00000523638.1	-	3	2227	c.1106T>G	c.(1105-1107)tTt>tGt	p.F369C	ZNF260_ENST00000593142.1_Missense_Mutation_p.F369C|ZNF260_ENST00000588993.1_Missense_Mutation_p.F369C|ZNF260_ENST00000592282.1_Missense_Mutation_p.F369C	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	369					multicellular organismal development (GO:0007275)|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.F369C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GAACTGAGAAAAGGCTTTCCC	0.433																																					p.F369C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1106G	19						.						123.0	111.0	115.0					19																	37005035		2203	4300	6503	41696875	SO:0001583	missense	339324	exon3			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1106T>G	19.37:g.37005035A>C	ENSP00000429803:p.Phe369Cys		41696875	NM_001166037	Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321452	0.60634	.	.	ENSG00000254004	ENST00000523638	T	0.48201	0.82	4.27	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66036	0.2749	M	0.79805	2.47	0.38485	D	0.947838	D	0.89917	1.0	D	0.78314	0.991	T	0.71497	-0.4575	9	0.72032	D	0.01	.	9.1502	0.36957	0.9053:0.0:0.0947:0.0	.	369	Q3ZCT1	ZN260_HUMAN	C	369	ENSP00000429803:F369C	ENSP00000429803:F369C	F	-	2	0	ZNF260	41696875	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.747000	0.62141	1.900000	0.55004	0.459000	0.35465	TTT		0.433	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756	
ZNF461	92283	broad.mit.edu	37	19	37130085	37130085	+	Missense_Mutation	SNP	G	G	A	rs371959901		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:37130085G>A	ENST00000588268.1	-	6	1389	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.R365W	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	388					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.R388W(1)|p.R261W(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)			CCACATTCCCGACATTCATAG	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22000	0.0		0.0	False		,,,				2504	0.0				p.R388W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1162T	19						.	G	TRP/ARG	3,4365	6.2+/-15.9	0,3,2181	91.0	100.0	97.0		1162	1.3	1.0	19		97	0,8592		0,0,4296	no	missense	ZNF461	NM_153257.2	101	0,3,6477	AA,AG,GG		0.0,0.0687,0.0231	probably-damaging	388/564	37130085	3,12957	2184	4296	6480	41821925	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.1162C>T	19.37:g.37130085G>A	ENSP00000467931:p.Arg388Trp		41821925	NM_153257	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287226	0.40494	6.87E-4	0.0	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	T	0.15139	2.45	3.48	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29914	0.0748	L	0.54965	1.715	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.999;0.99	D;D;P	0.66084	0.941;0.932;0.571	T	0.09015	-1.0694	9	0.87932	D	0	.	6.0963	0.20023	0.0:0.1094:0.5187:0.3719	.	365;310;388	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	W	388;119;365;261	ENSP00000353515:R365W	ENSP00000353515:R365W	R	-	1	2	ZNF461	41821925	0.000000	0.05858	0.991000	0.47740	0.985000	0.73830	-4.440000	0.00233	0.101000	0.17610	-0.479000	0.04858	CGG		0.403	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
ZNF790	388536	broad.mit.edu	37	19	37310450	37310450	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:37310450G>T	ENST00000356725.4	-	5	916	c.796C>A	c.(796-798)Cat>Aat	p.H266N	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	266					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.H266N(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)			AGTTGTGAATGAAATCTAAAG	0.383																																					p.H266N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C796A	19						.						52.0	53.0	52.0					19																	37310450		2203	4299	6502	42002290	SO:0001583	missense	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.796C>A	19.37:g.37310450G>T	ENSP00000349161:p.His266Asn		42002290	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	9.428	1.084706	0.20309	.	.	ENSG00000197863	ENST00000356725	T	0.35421	1.31	2.89	0.359	0.16088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08492	0.0211	N	0.00864	-1.135	0.09310	N	1	P	0.42827	0.791	B	0.29353	0.101	T	0.14172	-1.0482	9	0.21540	T	0.41	.	8.6694	0.34140	0.0:0.0:0.3728:0.6272	.	266	Q6PG37	ZN790_HUMAN	N	266	ENSP00000349161:H266N	ENSP00000349161:H266N	H	-	1	0	ZNF790	42002290	0.244000	0.23889	0.378000	0.26068	0.939000	0.58152	2.106000	0.41835	0.521000	0.28445	0.491000	0.48974	CAT		0.383	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF568	374900	broad.mit.edu	37	19	37441368	37441368	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:37441368G>A	ENST00000333987.7	+	7	1819	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.R374Q	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.R438Q(1)|p.R438L(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)			GTACATATGCGAAATCATACA	0.393																																					p.R438Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1313A	19						.						70.0	78.0	76.0					19																	37441368		2202	4298	6500	42133208	SO:0001583	missense	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.1313G>A	19.37:g.37441368G>A	ENSP00000334685:p.Arg438Gln		42133208	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038049	0.35989	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.24723	1.84;1.84	4.09	4.09	0.47781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37761	N	0.001955	T	0.45337	0.1337	L	0.55743	1.74	0.20074	N	0.999932	D	0.89917	1.0	D	0.83275	0.996	T	0.23726	-1.0180	10	0.72032	D	0.01	.	14.1758	0.65539	0.0:0.0:1.0:0.0	.	438	Q3ZCX4	ZN568_HUMAN	Q	438;374	ENSP00000334685:R438Q;ENSP00000394514:R374Q	ENSP00000334685:R438Q	R	+	2	0	ZNF568	42133208	0.000000	0.05858	0.148000	0.22405	0.800000	0.45204	0.305000	0.19254	2.268000	0.75426	0.563000	0.77884	CGA		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF420	147923	broad.mit.edu	37	19	37619797	37619797	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:37619797G>T	ENST00000337995.3	+	5	2119	c.1904G>T	c.(1903-1905)aGa>aTa	p.R635I	ZNF420_ENST00000586540.1_3'UTR|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	635					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R635I(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGGCATCAGAGAATTCATACT	0.418																																					p.R635I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1904T	19						.						68.0	66.0	67.0					19																	37619797		2203	4299	6502	42311637	SO:0001583	missense	147923	exon5			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1904G>T	19.37:g.37619797G>T	ENSP00000338770:p.Arg635Ile		42311637	NM_144689	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472363	0.43942	.	.	ENSG00000197050	ENST00000337995	T	0.24908	1.83	4.46	3.37	0.38596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41073	0.1143	M	0.73319	2.225	0.21527	N	0.999658	D	0.61697	0.99	P	0.53185	0.72	T	0.20571	-1.0271	8	.	.	.	.	13.6167	0.62112	0.0:0.0:0.8341:0.1659	.	635	Q8TAQ5	ZN420_HUMAN	I	635	ENSP00000338770:R635I	.	R	+	2	0	ZNF420	42311637	0.000000	0.05858	0.099000	0.21106	0.901000	0.52897	-0.669000	0.05262	2.315000	0.78130	0.655000	0.94253	AGA		0.418	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
ZNF585A	199704	broad.mit.edu	37	19	37643328	37643328	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:37643328C>A	ENST00000356958.4	-	5	1731	c.1473G>T	c.(1471-1473)gaG>gaT	p.E491D	ZNF585A_ENST00000292841.5_Missense_Mutation_p.E436D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E436D|ZNF585A_ENST00000355533.2_Intron|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	
STAP2	55620	broad.mit.edu	37	19	4333981	4333981	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:4333981G>A	ENST00000594605.1	-	2	286	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	STAP2_ENST00000600324.1_Missense_Mutation_p.R55W	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	55	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R55W(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAAGTCCCGATTGCTATTG	0.527																																					p.R55W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C163T	19						.						65.0	66.0	66.0					19																	4333981		2203	4300	6503	4284981	SO:0001583	missense	55620	exon2			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.163C>T	19.37:g.4333981G>A	ENSP00000471052:p.Arg55Trp		4284981	NM_001013841	A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455699	0.63401	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.05	5.05	0.67936	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.140091	0.46758	D	0.000274	T	0.73426	0.3585	M	0.68317	2.08	0.36421	D	0.864323	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80661	-0.1283	9	0.87932	D	0	-3.5157	14.0096	0.64488	0.0:0.0:1.0:0.0	.	55;55	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	W	55	.	ENSP00000317912:R55W	R	-	1	2	STAP2	4284981	0.994000	0.37717	0.977000	0.42913	0.534000	0.34807	2.489000	0.45285	2.373000	0.80994	0.627000	0.83407	CGG		0.527	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841	
STAP2	55620	broad.mit.edu	37	19	4338660	4338660	+	Missense_Mutation	SNP	G	G	A	rs372268872		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:4338660G>A	ENST00000594605.1	-	1	214	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	AC007292.7_ENST00000598582.1_RNA|STAP2_ENST00000600324.1_Missense_Mutation_p.P31S	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	31	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.P31S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCACAGGGCCCCTTCTTC	0.657																																					p.P31S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C91T	19						.	G	SER/PRO,SER/PRO	0,4406		0,0,2203	33.0	32.0	32.0		91,91	1.7	0.0	19		32	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	STAP2	NM_001013841.1,NM_017720.2	74,74	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	31/404,31/450	4338660	2,13002	2203	4299	6502	4289660	SO:0001583	missense	55620	exon1			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.91C>T	19.37:g.4338660G>A	ENSP00000471052:p.Pro31Ser		4289660	NM_001013841	A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	g	2.124	-0.400843	0.04865	0.0	2.33E-4	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	3.9	1.73	0.24493	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.884191	0.09832	U	0.750072	T	0.51058	0.1652	L	0.33137	0.985	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.40572	-0.9556	9	0.87932	D	0	-10.4127	8.4924	0.33108	0.217:0.0:0.783:0.0	.	31;31	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	S	31	.	ENSP00000317912:P31S	P	-	1	0	STAP2	4289660	0.979000	0.34478	0.010000	0.14722	0.126000	0.20510	2.297000	0.43593	0.023000	0.15187	-0.813000	0.03139	CCC		0.657	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841	
ZNF571	51276	broad.mit.edu	37	19	38055681	38055681	+	Missense_Mutation	SNP	C	C	A	rs139704284	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:38055681C>A	ENST00000328550.2	-	4	1748	c.1649G>T	c.(1648-1650)aGa>aTa	p.R550I	ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R550I|ZNF571_ENST00000451802.2_Missense_Mutation_p.R550I|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R550I|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	550					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.R550I(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAGTTCTCAGATGTTC	0.433																																					p.R550I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1649T	19						.						94.0	93.0	93.0					19																	38055681		2203	4300	6503	42747521	SO:0001583	missense	51276	exon4			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1649G>T	19.37:g.38055681C>A	ENSP00000333660:p.Arg550Ile		42747521	NM_016536	Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082580	0.55861	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.24908	1.83;1.83;1.83	3.78	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27629	0.0679	M	0.70842	2.15	0.36468	D	0.867091	D	0.56287	0.975	P	0.48982	0.597	T	0.46062	-0.9218	9	0.62326	D	0.03	.	1.5921	0.02656	0.141:0.3995:0.139:0.3205	.	550	Q7Z3V5	ZN571_HUMAN	I	550	ENSP00000333660:R550I;ENSP00000392638:R550I;ENSP00000351594:R550I	ENSP00000333660:R550I	R	-	2	0	ZNF571	42747521	0.000000	0.05858	0.016000	0.15963	0.981000	0.71138	0.187000	0.16998	0.161000	0.19458	0.460000	0.39030	AGA		0.433	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536	
ZNF573	126231	broad.mit.edu	37	19	38229484	38229484	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:38229484T>G	ENST00000590414.2	-	4	1928	c.1907A>C	c.(1906-1908)aAa>aCa	p.K636T	ZNF573_ENST00000357309.3_Missense_Mutation_p.K548T|ZNF573_ENST00000536220.1_Missense_Mutation_p.K548T|ZNF573_ENST00000392138.1_Missense_Mutation_p.K549T|ZNF573_ENST00000339503.4_Missense_Mutation_p.K578T			Q86YE8	ZN573_HUMAN	zinc finger protein 573	636					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.K578T(1)		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)			CACATAGGGTTTCTCACCAGT	0.408																																					p.K634T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1901C	19						.						133.0	134.0	133.0					19																	38229484		2203	4300	6503	42921324	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.1907A>C	19.37:g.38229484T>G	ENSP00000465020:p.Lys636Thr		42921324	NM_001172691	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367556	0.82463	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.36	2.36	0.29203	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42899	0.1223	L	0.58669	1.825	0.25466	N	0.987876	D;D;D;D	0.76494	0.999;0.999;0.996;0.995	D;D;D;D	0.79108	0.987;0.987;0.992;0.987	T	0.11227	-1.0596	9	0.72032	D	0.01	.	8.0287	0.30453	0.0:0.0:0.0:1.0	.	549;578;616;548	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	T	549;548;548;578;548	ENSP00000375983:K549T;ENSP00000440464:K548T;ENSP00000349861:K548T;ENSP00000340171:K578T	ENSP00000340171:K578T	K	-	2	0	ZNF573	42921324	0.050000	0.20438	0.655000	0.29622	0.985000	0.73830	0.344000	0.19962	0.961000	0.38030	0.473000	0.43528	AAA		0.408	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360	
PSMD8	5714	broad.mit.edu	37	19	38865566	38865566	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:38865566C>A	ENST00000215071.4	+	1	391	c.325C>A	c.(325-327)Ctt>Att	p.L109I	PSMD8_ENST00000602911.1_Missense_Mutation_p.L46I|PSMD8_ENST00000592035.1_5'Flank	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	109					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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.L16I(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGCCCCAATCTTAGCAAGTG	0.642																																					p.L109I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C325A	19						.						20.0	10.0	13.0					19																	38865566		2028	4047	6075	43557406	SO:0001583	missense	5714	exon1			D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"""Proteasome (prosome, macropain) subunits"""	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.325C>A	19.37:g.38865566C>A	ENSP00000215071:p.Leu109Ile		43557406	NM_002812	B4DX18|Q6P1L7	Missense_Mutation	SNP	ENST00000215071.4	37	CCDS12515.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829755	0.91036	.	.	ENSG00000099341	ENST00000215071	.	.	.	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	T	0.50120	0.1597	L	0.56769	1.78	0.80722	D	1	P	0.39480	0.675	B	0.31442	0.13	T	0.57533	-0.7795	9	0.52906	T	0.07	-22.5304	13.5315	0.61625	0.0:1.0:0.0:0.0	.	109	P48556	PSMD8_HUMAN	I	109	.	ENSP00000215071:L109I	L	+	1	0	PSMD8	43557406	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.037000	0.49775	2.557000	0.86248	0.555000	0.69702	CTT		0.642	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812	
RYR1	6261	broad.mit.edu	37	19	39002769	39002769	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:39002769C>T	ENST00000359596.3	+	62	9230	c.9230C>T	c.(9229-9231)gCc>gTc	p.A3077V	RYR1_ENST00000355481.4_Missense_Mutation_p.A3077V|RYR1_ENST00000360985.3_Missense_Mutation_p.A3077V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3077					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.A3077V(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)	TCCCTGGATGCCAGGTAGGGC	0.642																																					p.A3077V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9230T	19						.						49.0	50.0	50.0					19																	39002769		2203	4300	6503	43694609	SO:0001583	missense	6261	exon62			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.9230C>T	19.37:g.39002769C>T	ENSP00000352608:p.Ala3077Val		43694609	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536326	0.65085	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97041	-4.22;-4.22;-4.22	4.05	3.02	0.34903	.	0.000000	0.64402	U	0.000003	D	0.93249	0.7849	L	0.32530	0.975	0.44079	D	0.996838	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.003	D	0.89837	0.4000	10	0.29301	T	0.29	.	12.3993	0.55404	0.0:0.9157:0.0:0.0843	.	3077;3077	P21817-2;P21817	.;RYR1_HUMAN	V	3077	ENSP00000352608:A3077V;ENSP00000347667:A3077V;ENSP00000354254:A3077V	ENSP00000347667:A3077V	A	+	2	0	RYR1	43694609	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.145000	0.50623	1.303000	0.44873	0.591000	0.81541	GCC		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	broad.mit.edu	37	19	39076754	39076754	+	Silent	SNP	C	C	T	rs2302297		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:39076754C>T	ENST00000359596.3	+	104	14892	c.14892C>T	c.(14890-14892)atC>atT	p.I4964I	RYR1_ENST00000355481.4_Silent_p.I4959I|RYR1_ENST00000360985.3_Silent_p.I4959I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4964					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.I4964I(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)	TCTGTGGAATCGGCAGTGACT	0.557																																					p.I4959I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14877T	19						.						118.0	91.0	100.0					19																	39076754		2203	4300	6503	43768594	SO:0001819	synonymous_variant	6261	exon103			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.14892C>T	19.37:g.39076754C>T			43768594	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
SUPT5H	6829	broad.mit.edu	37	19	39965027	39965027	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:39965027G>A	ENST00000599117.1	+	28	3172	c.2805G>A	c.(2803-2805)tcG>tcA	p.S935S	SUPT5H_ENST00000402194.2_Silent_p.S931S|SUPT5H_ENST00000432763.2_Silent_p.S935S|SUPT5H_ENST00000359191.6_Silent_p.S931S|SUPT5H_ENST00000598725.1_Silent_p.S935S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	935	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.S935S(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACACCGTCGCCCATGGCCT	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S935S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2805A	19						.						84.0	73.0	77.0					19																	39965027		2203	4300	6503	44656867	SO:0001819	synonymous_variant	6829	exon26			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2805G>A	19.37:g.39965027G>A		889	44656867	NM_003169	O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	CCDS12536.1																																																																																				0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	
LGALS14	56891	broad.mit.edu	37	19	40197274	40197274	+	Missense_Mutation	SNP	C	C	T	rs150238702		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:40197274C>T	ENST00000392052.3	+	2	276	c.53C>T	c.(52-54)tCg>tTg	p.S18L	LGALS14_ENST00000360675.3_Missense_Mutation_p.S47L	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	18	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.S47L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CCTGTTGGTTCGTGCGTGATA	0.507																																					p.S18L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C53T	19						.						280.0	214.0	236.0					19																	40197274		2203	4300	6503	44889114	SO:0001583	missense	56891	exon2			AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.53C>T	19.37:g.40197274C>T	ENSP00000375905:p.Ser18Leu		44889114	NM_020129	A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	CCDS46073.1	.	.	.	.	.	.	.	.	.	.	.	4.790	0.146832	0.09134	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.07567	3.18;3.18	0.906	0.906	0.19314	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.11879	0.0289	L	0.39020	1.185	0.09310	N	1	D;D	0.69078	0.997;0.995	D;P	0.64877	0.93;0.811	T	0.25257	-1.0137	9	0.10902	T	0.67	.	5.1274	0.14892	0.0:1.0:0.0:0.0	.	18;47	Q8TCE9;A8MPV8	PPL13_HUMAN;.	L	18;47	ENSP00000375905:S18L;ENSP00000353893:S47L	ENSP00000353893:S47L	S	+	2	0	LGALS14	44889114	0.004000	0.15560	0.005000	0.12908	0.011000	0.07611	1.127000	0.31357	0.761000	0.33130	0.313000	0.20887	TCG		0.507	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129	
CLC	1178	broad.mit.edu	37	19	40224964	40224964	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:40224964C>A	ENST00000221804.4	-	3	337	c.262G>T	c.(262-264)Gaa>Taa	p.E88*		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	88	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.E88*(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)		AGTTCAAATTCTTGGCCATCC	0.562																																					p.E88X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G262T	19						.						178.0	144.0	155.0					19																	40224964		2203	4300	6503	44916804	SO:0001587	stop_gained	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.262G>T	19.37:g.40224964C>A	ENSP00000221804:p.Glu88*		44916804	NM_001828	C5HZ13|C5HZ14|Q0VDE3	Nonsense_Mutation	SNP	ENST00000221804.4	37	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	11.78	1.740900	0.30865	.	.	ENSG00000105205	ENST00000221804	.	.	.	1.22	-0.29	0.12847	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.0077	0.14297	0.0:0.3964:0.6036:0.0	.	.	.	.	X	88	.	ENSP00000221804:E88X	E	-	1	0	CLC	44916804	0.000000	0.05858	0.008000	0.14137	0.098000	0.18820	-0.217000	0.09253	-0.371000	0.08004	0.187000	0.17357	GAA		0.562	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828	
FCGBP	8857	broad.mit.edu	37	19	40408422	40408422	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:40408422A>G	ENST00000221347.6	-	8	4424	c.4417T>C	c.(4417-4419)Tcc>Ccc	p.S1473P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1473	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGTGGCAGGAGGACAGTGGC	0.572																																					p.S1473P												.	.	0			c.T4417C	19						.						23.0	26.0	25.0					19																	40408422		2199	4277	6476	45100262	SO:0001583	missense	8857	exon8			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4417T>C	19.37:g.40408422A>G	ENSP00000221347:p.Ser1473Pro		45100262	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	a	10.79	1.449372	0.26074	.	.	ENSG00000090920	ENST00000221347	T	0.76968	-1.06	4.77	-0.071	0.13745	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.46776	0.1410	N	0.02736	-0.51	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.30268	-0.9984	9	0.18710	T	0.47	.	2.3974	0.04393	0.1949:0.5137:0.1087:0.1827	.	1473	Q9Y6R7	FCGBP_HUMAN	P	1473	ENSP00000221347:S1473P	ENSP00000221347:S1473P	S	-	1	0	FCGBP	45100262	0.000000	0.05858	0.797000	0.32132	0.801000	0.45260	-0.947000	0.03901	-0.008000	0.14320	0.524000	0.50904	TCC		0.572	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
ZNF546	339327	broad.mit.edu	37	19	40521651	40521651	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:40521651G>T	ENST00000347077.4	+	7	2690	c.2474G>T	c.(2473-2475)aGa>aTa	p.R825I	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R799I	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	825					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R825I(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)					TTACATCAGAGAAATCATATT	0.333																																					p.R825I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2474T	19						.						49.0	52.0	51.0					19																	40521651		2203	4299	6502	45213491	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.2474G>T	19.37:g.40521651G>T	ENSP00000339823:p.Arg825Ile		45213491	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	11.80	1.747164	0.30955	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.10005	2.92	2.95	0.804	0.18697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11495	0.0280	M	0.76002	2.32	0.37656	D	0.922592	B	0.33379	0.41	B	0.26770	0.073	T	0.09037	-1.0693	9	0.87932	D	0	.	6.4023	0.21646	0.2699:0.0:0.7301:0.0	.	825	Q86UE3	ZN546_HUMAN	I	825;434	ENSP00000339823:R825I	ENSP00000339823:R825I	R	+	2	0	ZNF546	45213491	.	.	0.967000	0.41034	0.981000	0.71138	.	.	0.277000	0.22141	0.655000	0.94253	AGA		0.333	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
AKT2	208	broad.mit.edu	37	19	40740994	40740994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:40740994C>A	ENST00000392038.2	-	13	1622	c.1324G>T	c.(1324-1326)Gaa>Taa	p.E442*	AKT2_ENST00000579047.1_Nonsense_Mutation_p.E380*|AKT2_ENST00000311278.6_Nonsense_Mutation_p.E399*|AKT2_ENST00000424901.1_Nonsense_Mutation_p.E442*	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	442	AGC-kinase C-terminal.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.E442*(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCGGTAAATTCATCATCGAAG	0.632			A		"""ovarian, pancreatic """																																p.E442X			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1324T	19						.						159.0	147.0	151.0					19																	40740994		2203	4300	6503	45432834	SO:0001587	stop_gained	208	exon13			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1324G>T	19.37:g.40740994C>A	ENSP00000375892:p.Glu442*		45432834	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Nonsense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	39	7.883022	0.98542	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278	.	.	.	5.39	4.34	0.51931	.	0.046754	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.0009	0.71469	0.0:0.8565:0.1435:0.0	.	.	.	.	X	442;343;442;399	.	ENSP00000309428:E399X	E	-	1	0	AKT2	45432834	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.403000	0.79983	1.472000	0.48140	0.655000	0.94253	GAA		0.632	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	
PLD3	23646	broad.mit.edu	37	19	40880481	40880481	+	Missense_Mutation	SNP	G	G	A	rs139707894		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:40880481G>A	ENST00000409587.1	+	10	1370	c.973G>A	c.(973-975)Gct>Act	p.A325T	PLD3_ENST00000409735.4_Missense_Mutation_p.A325T|PLD3_ENST00000356508.5_Missense_Mutation_p.A325T|PLD3_ENST00000409419.1_Missense_Mutation_p.A325T|PLD3_ENST00000409281.1_Missense_Mutation_p.A325T			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	325					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)	p.A272T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CATCTACGTCGCTGTCATGAA	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18753	0.0		0.0	False		,,,				2504	0.0				p.A325T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	19						.	G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	164.0	151.0	155.0		973,973	2.8	0.4	19	dbSNP_134	155	0,8600		0,0,4300	no	missense,missense	PLD3	NM_001031696.2,NM_012268.2	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	325/491,325/491	40880481	1,13005	2203	4300	6503	45572321	SO:0001583	missense	23646	exon10			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.973G>A	19.37:g.40880481G>A	ENSP00000387050:p.Ala325Thr		45572321	NM_001031696	Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390355	0.82902	2.27E-4	0.0	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.08	2.79	0.32731	Phospholipase D/viral envelope (1);	0.103566	0.64402	D	0.000003	T	0.55705	0.1937	M	0.62154	1.92	0.51482	D	0.999922	D	0.56968	0.978	P	0.58077	0.832	T	0.53975	-0.8362	10	0.59425	D	0.04	-4.5438	7.6845	0.28532	0.0731:0.0:0.5065:0.4204	.	325	Q8IV08	PLD3_HUMAN	T	325;325;325;306;325;325	ENSP00000386293:A325T;ENSP00000387050:A325T;ENSP00000348901:A325T;ENSP00000386938:A325T;ENSP00000387022:A325T	ENSP00000348901:A325T	A	+	1	0	PLD3	45572321	1.000000	0.71417	0.424000	0.26647	0.722000	0.41435	4.165000	0.58196	0.453000	0.26858	-0.169000	0.13324	GCT		0.607	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268	
SPTBN4	57731	broad.mit.edu	37	19	41003410	41003410	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:41003410A>G	ENST00000352632.3	+	7	769	c.683A>G	c.(682-684)gAc>gGc	p.D228G	SPTBN4_ENST00000338932.3_Missense_Mutation_p.D228G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D228G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D228G|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D228G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	228	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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.D228G(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)			GATCTCGTGGACTTCAGCAAA	0.632																																					p.D228G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A683G	19						.						91.0	74.0	80.0					19																	41003410		2203	4300	6503	45695250	SO:0001583	missense	57731	exon7			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.683A>G	19.37:g.41003410A>G	ENSP00000263373:p.Asp228Gly		45695250	NM_020971	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.142110	0.57044	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.63255	-0.03;-0.03;-0.03	3.92	3.92	0.45320	Calponin homology domain (5);	0.529177	0.16679	U	0.204007	T	0.80592	0.4652	M	0.92077	3.27	0.80722	D	1	B;P	0.50819	0.389;0.939	B;P	0.58820	0.243;0.846	D	0.84381	0.0549	10	0.87932	D	0	.	11.9119	0.52743	1.0:0.0:0.0:0.0	.	228;228	Q9H254;Q71S06	SPTN4_HUMAN;.	G	228	ENSP00000263373:D228G;ENSP00000340345:D228G;ENSP00000340741:D228G	ENSP00000340345:D228G	D	+	2	0	SPTBN4	45695250	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.962000	0.93254	1.646000	0.50622	0.378000	0.23410	GAC		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
LTBP4	8425	broad.mit.edu	37	19	41133708	41133708	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:41133708A>C	ENST00000308370.7	+	33	4663	c.4663A>C	c.(4663-4665)Acc>Ccc	p.T1555P	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.T1488P|LTBP4_ENST00000204005.9_Missense_Mutation_p.T1518P|LTBP4_ENST00000545697.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1556	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.T1555P(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAAGGCTTCACCTGCCGTTG	0.701																																					p.S1488S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4464C	19						.						9.0	14.0	12.0					19																	41133708		2065	4179	6244	45825548	SO:0001583	missense	8425	exon29			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4663A>C	19.37:g.41133708A>C	ENSP00000311905:p.Thr1555Pro		45825548	NM_001042545	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	A	27.2	4.809030	0.90707	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D	0.88046	-2.33;-2.33;-2.33	4.35	4.35	0.52113	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.210807	0.24381	N	0.039009	D	0.92218	0.7532	.	.	.	0.58432	D	0.999998	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;0.996;0.997;0.997;0.996	D	0.91557	0.5261	9	0.39692	T	0.17	.	12.9211	0.58232	1.0:0.0:0.0:0.0	.	316;568;776;1488;1556;1518	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	P	1518;1555;1488;316	ENSP00000204005:T1518P;ENSP00000311905:T1555P;ENSP00000380031:T1488P	ENSP00000204005:T1518P	T	+	1	0	LTBP4	45825548	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.913000	0.92730	1.945000	0.56424	0.533000	0.62120	ACC		0.701	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573	
NUMBL	9253	broad.mit.edu	37	19	41186938	41186938	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:41186938C>T	ENST00000252891.4	-	6	591	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_Missense_Mutation_p.E101K|NUMBL_ENST00000598779.1_Missense_Mutation_p.E101K	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	142	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)		p.E142K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GAGACCTTTTCGATGGTCTGG	0.532																																					p.E142K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	19						.						126.0	119.0	121.0					19																	41186938		2203	4300	6503	45878778	SO:0001583	missense	9253	exon6			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.424G>A	19.37:g.41186938C>T	ENSP00000252891:p.Glu142Lys		45878778	NM_004756	Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096445	0.94197	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.18960	2.18;2.18	4.59	4.59	0.56863	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.063270	0.64402	D	0.000009	T	0.26195	0.0639	M	0.65320	2	0.80722	D	1	P;P	0.45176	0.852;0.852	B;B	0.40101	0.319;0.319	T	0.16600	-1.0397	10	0.87932	D	0	-7.3597	16.5701	0.84609	0.0:1.0:0.0:0.0	.	142;142	A8K033;Q9Y6R0	.;NUMBL_HUMAN	K	142;101	ENSP00000252891:E142K;ENSP00000442759:E101K	ENSP00000252891:E142K	E	-	1	0	NUMBL	45878778	1.000000	0.71417	0.949000	0.38748	0.847000	0.48162	7.480000	0.81109	2.278000	0.76064	0.655000	0.94253	GAA		0.532	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756	
HNRNPUL1	11100	broad.mit.edu	37	19	41787179	41787179	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:41787179C>T	ENST00000392006.3	+	7	1171	c.998C>T	c.(997-999)gCg>gTg	p.A333V	HNRNPUL1_ENST00000593587.1_Splice_Site_p.A233V|HNRNPUL1_ENST00000263367.3_Splice_Site_p.A244V|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000602130.1_Splice_Site_p.A333V|HNRNPUL1_ENST00000352456.3_Splice_Site_p.A233V|HNRNPUL1_ENST00000595018.1_Splice_Site_p.A233V	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	333	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A333V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GGCTGCTTTGCGGTGAGTGCT	0.502																																					p.A233V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	19						.						69.0	51.0	57.0					19																	41787179		2203	4300	6503	46479019	SO:0001630	splice_region_variant	11100	exon7			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.999+1C>T	19.37:g.41787179C>T			46479019	NM_144732	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	7.739	0.700807	0.15172	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000263367	T;T;T	0.71698	-0.59;-0.59;-0.59	5.44	2.17	0.27698	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.242221	0.44097	N	0.000497	T	0.34832	0.0911	N	0.01529	-0.815	0.33736	D	0.618878	B;B;B;B;B	0.26081	0.04;0.111;0.141;0.04;0.032	B;B;B;B;B	0.22880	0.028;0.042;0.031;0.028;0.017	T	0.34551	-0.9824	10	0.12430	T	0.62	-2.8841	6.6502	0.22957	0.0:0.5938:0.0:0.4062	.	244;233;333;333;233	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2;Q9BUJ2-4	.;.;.;HNRL1_HUMAN;.	V	233;333;244	ENSP00000340857:A233V;ENSP00000375863:A333V;ENSP00000263367:A244V	ENSP00000263367:A244V	A	+	2	0	HNRNPUL1	46479019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.833000	0.27504	0.789000	0.33779	0.563000	0.77884	GCG		0.502	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040	Missense_Mutation
CCDC97	90324	broad.mit.edu	37	19	41825582	41825582	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:41825582C>T	ENST00000269967.3	+	3	728	c.606C>T	c.(604-606)acC>acT	p.T202T		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	202								p.T202T(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GTGCCCGCACCCCAACCCACC	0.647																																					p.T202T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C606T	19						.						56.0	62.0	60.0					19																	41825582		2203	4300	6503	46517422	SO:0001819	synonymous_variant	90324	exon3			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.606C>T	19.37:g.41825582C>T			46517422	NM_052848	Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	CCDS12578.1																																																																																				0.647	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848	
CEACAM4	1089	broad.mit.edu	37	19	42128106	42128106	+	Missense_Mutation	SNP	C	C	T	rs201492288		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:42128106C>T	ENST00000221954.2	-	3	570	c.460G>A	c.(460-462)Gct>Act	p.A154T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A154T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	154						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A154T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						ACGATGCCAGCGACGGCCCCC	0.597																																					p.A154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	19						.						63.0	57.0	59.0					19																	42128106		2203	4300	6503	46819946	SO:0001583	missense	1089	exon3			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.460G>A	19.37:g.42128106C>T	ENSP00000221954:p.Ala154Thr		46819946	NM_001817	Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275650	0.40294	.	.	ENSG00000105352	ENST00000221954	T	0.01484	4.84	3.28	-3.29	0.05017	.	.	.	.	.	T	0.02848	0.0085	M	0.91612	3.225	0.09310	N	1	B;B	0.29232	0.116;0.238	B;B	0.15484	0.013;0.013	T	0.42137	-0.9469	9	0.16420	T	0.52	.	3.9702	0.09449	0.0:0.4261:0.1792:0.3947	.	154;154	E7EMX3;O75871	.;CEAM4_HUMAN	T	154	ENSP00000221954:A154T	ENSP00000221954:A154T	A	-	1	0	CEACAM4	46819946	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.491000	0.06474	-0.935000	0.03728	0.430000	0.28490	GCT		0.597	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817	
ATP1A3	478	broad.mit.edu	37	19	42473707	42473707	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:42473707G>T	ENST00000302102.5	-	19	2718	c.2568C>A	c.(2566-2568)ttC>ttA	p.F856L	ATP1A3_ENST00000543770.1_Missense_Mutation_p.F867L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.F826L|ATP1A3_ENST00000545399.1_Missense_Mutation_p.F869L	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	856					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|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.F856L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGTAAGAGAAGAAGCCACCGA	0.592																																					p.F856L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2568A	19						.						89.0	90.0	89.0					19																	42473707		2203	4300	6503	47165547	SO:0001583	missense	478	exon19				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2568C>A	19.37:g.42473707G>T	ENSP00000302397:p.Phe856Leu		47165547	NM_152296	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583636	0.65992	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	3.75	-2.57	0.06248	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96284	0.8788	M	0.91300	3.195	0.58432	D	0.999999	P;P;D;P	0.56035	0.952;0.891;0.974;0.911	B;P;P;P	0.60541	0.419;0.735;0.876;0.827	D	0.94168	0.7420	10	0.62326	D	0.03	.	8.4946	0.33121	0.4668:0.0:0.5332:0.0	.	869;867;856;856	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	L	856;856;869;826;600;867	ENSP00000302397:F856L;ENSP00000411503:F856L;ENSP00000444688:F869L;ENSP00000437577:F867L	ENSP00000302397:F856L	F	-	3	2	ATP1A3	47165547	1.000000	0.71417	0.968000	0.41197	0.632000	0.37999	1.491000	0.35583	-0.452000	0.07087	0.462000	0.41574	TTC		0.592	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	
GRIK5	2901	broad.mit.edu	37	19	42558029	42558029	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:42558029C>T	ENST00000262895.3	-	9	1108	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	GRIK5_ENST00000301218.4_Missense_Mutation_p.R370K|GRIK5_ENST00000593562.1_Missense_Mutation_p.R370K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	370					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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.R370K(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GTAGTTGGTTCTCTGCCCTTT	0.652																																					p.R370K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1109A	19						.						84.0	72.0	76.0					19																	42558029		2203	4300	6503	47249869	SO:0001583	missense	2901	exon9				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1109G>A	19.37:g.42558029C>T	ENSP00000262895:p.Arg370Lys		47249869	NM_002088	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625541	0.96671	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.30714	1.52;1.52	5.31	5.31	0.75309	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	M	0.84948	2.725	0.46458	D	0.999051	D	0.69078	0.997	D	0.72625	0.978	T	0.67917	-0.5546	10	0.87932	D	0	.	17.7443	0.88415	0.0:1.0:0.0:0.0	.	370	Q16478	GRIK5_HUMAN	K	370	ENSP00000262895:R370K;ENSP00000301218:R370K	ENSP00000262895:R370K	R	-	2	0	GRIK5	47249869	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.689000	0.68234	2.477000	0.83638	0.563000	0.77884	AGA		0.652	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		
ZNF574	64763	broad.mit.edu	37	19	42585280	42585280	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:42585280G>A	ENST00000600245.1	+	2	3177	c.2522G>A	c.(2521-2523)cGc>cAc	p.R841H	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.R841H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R931H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	841					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.R841H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGGAAGCACCGCAAGACCCAT	0.647																																					p.R841H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2522A	19						.						64.0	68.0	66.0					19																	42585280		2203	4300	6503	47277120	SO:0001583	missense	64763	exon2			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2522G>A	19.37:g.42585280G>A	ENSP00000469029:p.Arg841His		47277120	NM_022752	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.186824|3.186824	0.57909|0.57909	.|.	.|.	ENSG00000105732|ENSG00000105732	ENST00000535775|ENST00000222339;ENST00000359044	.|T;T	.|0.07688	.|3.17;3.17	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.075537	.|0.51477	.|D	.|0.000083	T|T	0.16342|0.16342	0.0393|0.0393	N|N	0.19112|0.19112	0.55|0.55	0.40399|0.40399	D|D	0.979623|0.979623	.|D;D	.|0.89917	.|0.999;1.0	.|P;D	.|0.72338	.|0.848;0.977	T|T	0.08659|0.08659	-1.0711|-1.0711	6|10	0.72032|0.48119	D|T	0.01|0.1	-25.048|-25.048	16.5904|16.5904	0.84763|0.84763	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|841;930	.|Q6ZN55;Q6ZN55-2	.|ZN574_HUMAN;.	T|H	448|931;841	.|ENSP00000222339:R931H;ENSP00000351939:R841H	ENSP00000445515:A448T|ENSP00000222339:R931H	A|R	+|+	1|2	0|0	ZNF574|ZNF574	47277120|47277120	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	1.606000|1.606000	0.36826|0.36826	2.445000|2.445000	0.82738|0.82738	0.460000|0.460000	0.39030|0.39030	GCA|CGC		0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752	
LIPE	3991	broad.mit.edu	37	19	42911848	42911848	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:42911848C>T	ENST00000244289.4	-	5	2028	c.1752G>A	c.(1750-1752)acG>acA	p.T584T	LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	584					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.T584T(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGACCGTGAGCGTGGGGTCGG	0.642																																					p.T584T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1752A	19						.						81.0	70.0	74.0					19																	42911848		2203	4300	6503	47603688	SO:0001819	synonymous_variant	3991	exon5			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1752G>A	19.37:g.42911848C>T			47603688	NM_005357	Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	CCDS12607.1																																																																																				0.642	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357	
CEACAM1	634	broad.mit.edu	37	19	43031245	43031245	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43031245G>T	ENST00000161559.6	-	2	506	c.372C>A	c.(370-372)gtC>gtA	p.V124V	CEACAM1_ENST00000599389.1_Silent_p.V124V|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000403444.3_Silent_p.V124V|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Silent_p.V124V|CEACAM1_ENST00000352591.5_Silent_p.V124V|CEACAM1_ENST00000351134.3_Silent_p.V124V|CEACAM1_ENST00000358394.3_Silent_p.V124V|CEACAM1_ENST00000308072.4_Silent_p.V84V	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	124	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V124V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CTGACTTTATGACTTGTAGGG	0.488																																					p.V124V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C372A	19						.						321.0	288.0	299.0					19																	43031245		2203	4300	6503	47723085	SO:0001819	synonymous_variant	634	exon2			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.372C>A	19.37:g.43031245G>T			47723085	NM_001712	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	CCDS12609.1																																																																																				0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712	
CEACAM8	1088	broad.mit.edu	37	19	43093087	43093087	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43093087A>G	ENST00000244336.5	-	4	908	c.807T>C	c.(805-807)taT>taC	p.Y269Y	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	269	Ig-like C2-type 2.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Y269Y(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CAGACCAAGAATACTGTGAGG	0.502																																					p.Y269Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T807C	19						.						160.0	150.0	153.0					19																	43093087		2203	4300	6503	47784927	SO:0001819	synonymous_variant	1088	exon4			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.807T>C	19.37:g.43093087A>G			47784927	NM_001816	O60399|Q16574	Silent	SNP	ENST00000244336.5	37	CCDS12610.1																																																																																				0.502	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1		
CEACAM8	1088	broad.mit.edu	37	19	43093178	43093178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43093178G>A	ENST00000244336.5	-	4	817	c.716C>T	c.(715-717)gCc>gTc	p.A239V	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	239	Ig-like C2-type 2.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A239V(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AATGGTGGGGGCATCTGGGCC	0.522																																					p.A239V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C716T	19						.						84.0	83.0	83.0					19																	43093178		2203	4300	6503	47785018	SO:0001583	missense	1088	exon4			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.716C>T	19.37:g.43093178G>A	ENSP00000244336:p.Ala239Val		47785018	NM_001816	O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	g	6.625	0.483766	0.12581	.	.	ENSG00000124469	ENST00000244336	T	0.14516	2.5	2.41	1.34	0.21922	Immunoglobulin-like (1);	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.39099	-0.9630	9	0.33940	T	0.23	.	4.8474	0.13521	0.1892:0.0:0.8108:0.0	.	239	P31997	CEAM8_HUMAN	V	239	ENSP00000244336:A239V	ENSP00000244336:A239V	A	-	2	0	CEACAM8	47785018	0.177000	0.23109	0.003000	0.11579	0.272000	0.26649	0.409000	0.21082	0.329000	0.23460	0.305000	0.20034	GCC		0.522	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1		
PSG3	5671	broad.mit.edu	37	19	43233419	43233419	+	Missense_Mutation	SNP	T	T	C	rs200238055		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43233419T>C	ENST00000327495.5	-	5	1283	c.1099A>G	c.(1099-1101)Aca>Gca	p.T367A	PSG3_ENST00000595140.1_Missense_Mutation_p.T367A	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	367	Ig-like C2-type 3.			Missing (in Ref. 9). {ECO:0000305}.	defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.T367A(1)		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)				CCATTAATTGTCCAAGAATAT	0.453																																					p.T367A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1099G	19						.						168.0	179.0	175.0					19																	43233419		2203	4300	6503	47925259	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.1099A>G	19.37:g.43233419T>C	ENSP00000332215:p.Thr367Ala		47925259	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	N	1.064	-0.672109	0.03403	.	.	ENSG00000221826	ENST00000327495	T	0.14022	2.54	1.33	-2.65	0.06095	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22126	0.0533	L	0.55834	1.745	0.09310	N	1	D;D	0.62365	0.991;0.987	D;D	0.68765	0.937;0.96	T	0.09729	-1.0661	9	0.45353	T	0.12	.	2.3522	0.04286	0.4264:0.0:0.338:0.2356	.	367;367	P11464-2;Q16557	.;PSG3_HUMAN	A	367	ENSP00000332215:T367A	ENSP00000332215:T367A	T	-	1	0	PSG3	47925259	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.390000	0.02528	-1.746000	0.01335	-1.887000	0.00540	ACA		0.453	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016	
PSG8	440533	broad.mit.edu	37	19	43258539	43258539	+	Missense_Mutation	SNP	G	G	A	rs375725440	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43258539G>A	ENST00000306511.4	-	5	1286	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.R275C|PSG8_ENST00000404209.4_Missense_Mutation_p.R397C|PSG8_ENST00000401467.2_Missense_Mutation_p.R304C	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	397	Ig-like C2-type 3.					extracellular region (GO:0005576)		p.R397C(2)		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)				GCTGAGTTACGAACAGAGCAA	0.448													.|||	3	0.000599042	0.0	0.0	5008	,	,		18576	0.0		0.0	False		,,,				2504	0.0031				p.R275C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C823T	19						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	184.0	199.0	194.0		1189,823,1189	0.2	0.0	19		194	1,8593		0,1,4296	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	180,180,180	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	397/420,275/298,397/427	43258539	1,12999	2203	4297	6500	47950379	SO:0001583	missense	440533	exon4			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.1189C>T	19.37:g.43258539G>A	ENSP00000305005:p.Arg397Cys		47950379	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	10.14	1.268799	0.23136	0.0	1.16E-4	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	1.28	0.152	0.14893	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36799	0.0980	M	0.91920	3.255	0.09310	N	1	D;D;D;D;D;D	0.89917	0.997;0.997;1.0;0.999;0.998;0.998	P;P;D;D;D;D	0.74023	0.888;0.849;0.982;0.956;0.919;0.952	T	0.12604	-1.0541	9	0.72032	D	0.01	.	3.1043	0.06336	0.3257:0.0:0.6743:0.0	.	275;304;397;304;397;397	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	C	397;179;275;304;209;304;397	ENSP00000385869:R397C;ENSP00000385081:R275C;ENSP00000386090:R304C;ENSP00000305005:R397C	ENSP00000292109:R179C	R	-	1	0	PSG8	47950379	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.287000	0.08388	0.663000	0.31027	0.298000	0.19748	CGT		0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		
PSG4	5672	broad.mit.edu	37	19	43698666	43698666	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43698666C>T	ENST00000405312.3	-	5	1306	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	PSG4_ENST00000433626.2_Missense_Mutation_p.E264K|PSG4_ENST00000244295.9_Missense_Mutation_p.E264K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	357	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.E357K(1)|p.E264K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGTTAGACTCGGCGAAGCAG	0.458																																					p.E357K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1069A	19						.						171.0	176.0	175.0					19																	43698666		2202	4295	6497	48390506	SO:0001583	missense	5672	exon5				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1069G>A	19.37:g.43698666C>T	ENSP00000384770:p.Glu357Lys		48390506	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	3.019	-0.202176	0.06219	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.12465	2.68;2.68;2.68	1.4	1.4	0.22301	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07369	0.0186	N	0.17594	0.5	0.09310	N	1	B;B;B	0.30851	0.297;0.001;0.029	B;B;B	0.36567	0.228;0.001;0.029	T	0.38436	-0.9661	9	0.06099	T	0.92	.	6.1537	0.20326	0.0:1.0:0.0:0.0	.	264;264;357	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	K	264;357;264	ENSP00000244295:E264K;ENSP00000384770:E357K;ENSP00000387864:E264K	ENSP00000244295:E264K	E	-	1	0	PSG4	48390506	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.395000	0.20850	0.740000	0.32651	0.447000	0.29281	GAG		0.458	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	
PSG4	5672	broad.mit.edu	37	19	43708088	43708088	+	Missense_Mutation	SNP	C	C	T	rs367615943		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43708088C>T	ENST00000405312.3	-	2	617	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	PSG4_ENST00000433626.2_Missense_Mutation_p.R127Q|PSG4_ENST00000244295.9_Missense_Mutation_p.R127Q	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	127	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.R127Q(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCCATCGCGTCGCTTTATGAT	0.502																																					p.R127Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G380A	19						.						259.0	261.0	260.0					19																	43708088		2134	4273	6407	48399928	SO:0001583	missense	5672	exon2				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.380G>A	19.37:g.43708088C>T	ENSP00000384770:p.Arg127Gln		48399928	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	2.712	-0.268635	0.05716	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	1.65	-0.78	0.10969	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38026	0.1025	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24533	0.069;0.105;0.02	B;B;B	0.22753	0.041;0.036;0.017	T	0.19811	-1.0294	9	0.15952	T	0.53	.	4.347	0.11138	0.0:0.4275:0.0:0.5725	.	127;127;127	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	Q	127;127;127;143	ENSP00000244295:R127Q;ENSP00000384770:R127Q;ENSP00000387864:R127Q;ENSP00000388134:R143Q	ENSP00000244295:R127Q	R	-	2	0	PSG4	48399928	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.706000	0.00821	-0.259000	0.09432	0.173000	0.16961	CGA		0.502	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	
PSG4	5672	broad.mit.edu	37	19	43708169	43708169	+	Missense_Mutation	SNP	C	C	A	rs145457587		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43708169C>A	ENST00000405312.3	-	2	536	c.299G>T	c.(298-300)aGa>aTa	p.R100I	PSG4_ENST00000433626.2_Missense_Mutation_p.R100I|PSG4_ENST00000244295.9_Missense_Mutation_p.R100I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	100	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.R100I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGAATATACTCTTTCTCTTCC	0.443																																					p.R100I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G299T	19						.						259.0	269.0	265.0					19																	43708169		2129	4271	6400	48400009	SO:0001583	missense	5672	exon2				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.299G>T	19.37:g.43708169C>A	ENSP00000384770:p.Arg100Ile		48400009	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	0.019	-1.461765	0.01062	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	1.65	-3.31	0.04988	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37320	0.0999	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.29805	0.0;0.257;0.001	B;B;B	0.28553	0.002;0.091;0.016	T	0.12553	-1.0543	9	0.46703	T	0.11	.	4.9624	0.14072	0.0:0.3513:0.2945:0.3542	.	100;100;100	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	100;100;100;116	ENSP00000244295:R100I;ENSP00000384770:R100I;ENSP00000387864:R100I;ENSP00000388134:R116I	ENSP00000244295:R100I	R	-	2	0	PSG4	48400009	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.417000	0.02464	-3.262000	0.00201	-3.421000	0.00038	AGA		0.443	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	
PSG9	5678	broad.mit.edu	37	19	43766260	43766260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:43766260C>T	ENST00000270077.3	-	3	557	c.461G>A	c.(460-462)aGc>aAc	p.S154N	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.S154N|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Missense_Mutation_p.S154N	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	154	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S154N(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)				GTTTAAGTTGCTGCTGGAGAT	0.517																																					p.S154N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461A	19						.						173.0	172.0	173.0					19																	43766260		2203	4300	6503	48458100	SO:0001583	missense	5678	exon3			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.461G>A	19.37:g.43766260C>T	ENSP00000270077:p.Ser154Asn		48458100	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.628353	0.00813	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.14022	2.54;2.54	2.12	-1.26	0.09376	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13243	0.0321	N	0.25286	0.73	0.09310	N	0.999997	B;D;B	0.89917	0.003;1.0;0.041	B;D;B	0.91635	0.02;0.999;0.074	T	0.16247	-1.0409	9	0.02654	T	1	.	2.8678	0.05607	0.0:0.1989:0.2547:0.5463	.	154;154;154	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	N	154;115;154	ENSP00000270077:S154N;ENSP00000244293:S154N	ENSP00000244293:S154N	S	-	2	0	PSG9	48458100	0.933000	0.31639	0.078000	0.20375	0.175000	0.22909	0.221000	0.17680	-0.087000	0.12528	0.194000	0.17425	AGC		0.517	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
KCNN4	3783	broad.mit.edu	37	19	44284897	44284897	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44284897G>T	ENST00000262888.3	-	1	512	c.117C>A	c.(115-117)ctC>ctA	p.L39L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	39					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.L39L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GCAGCACCATGAGTCCAATGC	0.647																																					p.L39L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117A	19						.						155.0	133.0	141.0					19																	44284897		2203	4300	6503	48976737	SO:0001819	synonymous_variant	3783	exon1			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.117C>A	19.37:g.44284897G>T			48976737	NM_002250	Q53XR4	Silent	SNP	ENST00000262888.3	37	CCDS12630.1																																																																																				0.647	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250	
LYPD5	284348	broad.mit.edu	37	19	44303861	44303861	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44303861T>C	ENST00000377950.3	-	2	270	c.190A>G	c.(190-192)Acc>Gcc	p.T64A	LYPD5_ENST00000594013.1_Missense_Mutation_p.T21A|LYPD5_ENST00000414615.2_Missense_Mutation_p.T21A	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	64						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T21A(1)		breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				tccttACCGGTGTCCAGAGAC	0.557																																					p.T21A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A61G	19						.						43.0	41.0	42.0					19																	44303861		2203	4300	6503	48995701	SO:0001583	missense	284348	exon2			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.190A>G	19.37:g.44303861T>C	ENSP00000367185:p.Thr64Ala		48995701	NM_182573	Q6PEX9|Q96DR2	Missense_Mutation	SNP	ENST00000377950.3	37	CCDS46096.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231174	0.39399	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.27890	1.97;1.64	2.69	2.69	0.31865	.	0.304550	0.17849	U	0.159938	T	0.21267	0.0512	L	0.32530	0.975	0.25845	N	0.984011	B	0.18310	0.027	B	0.11329	0.006	T	0.15925	-1.0420	10	0.66056	D	0.02	.	7.2315	0.26045	0.0:0.0:0.0:1.0	.	64	Q6UWN5	LYPD5_HUMAN	A	64;21	ENSP00000367185:T64A;ENSP00000408433:T21A	ENSP00000367185:T64A	T	-	1	0	LYPD5	48995701	1.000000	0.71417	0.971000	0.41717	0.345000	0.29048	3.255000	0.51484	1.473000	0.48159	0.260000	0.18958	ACC		0.557	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1	NM_182573	
ZNF283	284349	broad.mit.edu	37	19	44351563	44351563	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44351563G>A	ENST00000324461.7	+	7	1107	c.810G>A	c.(808-810)aaG>aaA	p.K270K	ZNF283_ENST00000588797.1_Silent_p.K131K	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	270					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.K270K(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AATGTGGGAAGACCTTTAGCT	0.413																																					p.K270K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G810A	19						.						60.0	69.0	66.0					19																	44351563		2201	4298	6499	49043403	SO:0001819	synonymous_variant	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.810G>A	19.37:g.44351563G>A			49043403	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Silent	SNP	ENST00000324461.7	37	CCDS46097.1																																																																																				0.413	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF283	284349	broad.mit.edu	37	19	44352357	44352357	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44352357G>A	ENST00000324461.7	+	7	1901	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K	ZNF283_ENST00000588797.1_Missense_Mutation_p.R396K	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	535					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.R535I(1)|p.R535K(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAACATGAAAGAATCCATACA	0.413																																					p.R535K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1604A	19						.						72.0	81.0	78.0					19																	44352357		2202	4296	6498	49044197	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.1604G>A	19.37:g.44352357G>A	ENSP00000327314:p.Arg535Lys		49044197	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403045	0.42613	.	.	ENSG00000167637	ENST00000324461	T	0.18338	2.22	2.48	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22513	0.0543	N	0.25286	0.73	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.02026	-1.1227	9	0.36615	T	0.2	.	9.1756	0.37109	0.0:0.226:0.774:0.0	.	535	Q8N7M2	ZN283_HUMAN	K	535	ENSP00000327314:R535K	ENSP00000327314:R535K	R	+	2	0	ZNF283	49044197	0.000000	0.05858	0.858000	0.33744	0.751000	0.42716	0.269000	0.18589	1.366000	0.46076	0.462000	0.41574	AGA		0.413	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF283	284349	broad.mit.edu	37	19	44352609	44352609	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44352609G>T	ENST00000324461.7	+	7	2153	c.1856G>T	c.(1855-1857)aGa>aTa	p.R619I	ZNF283_ENST00000588797.1_Missense_Mutation_p.R480I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	619					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.R619I(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GTTCATCAGAGATTTCATACT	0.383																																					p.R619I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856T	19						.						100.0	109.0	106.0					19																	44352609		2110	4267	6377	49044449	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.1856G>T	19.37:g.44352609G>T	ENSP00000327314:p.Arg619Ile		49044449	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420243	0.25552	.	.	ENSG00000167637	ENST00000324461	T	0.35421	1.31	2.53	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28995	0.0720	L	0.52206	1.635	0.58432	D	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.10086	-1.0645	9	0.59425	D	0.04	.	6.4722	0.22015	0.0:0.1998:0.5959:0.2043	.	619	Q8N7M2	ZN283_HUMAN	I	619	ENSP00000327314:R619I	ENSP00000327314:R619I	R	+	2	0	ZNF283	49044449	0.000000	0.05858	0.903000	0.35520	0.984000	0.73092	0.057000	0.14279	0.352000	0.24053	0.563000	0.77884	AGA		0.383	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF221	7638	broad.mit.edu	37	19	44470911	44470911	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44470911A>C	ENST00000251269.5	+	6	1585	c.1257A>C	c.(1255-1257)caA>caC	p.Q419H	ZNF221_ENST00000587682.1_Missense_Mutation_p.Q419H|ZNF221_ENST00000592350.1_Missense_Mutation_p.Q419H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	419					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.Q419H(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ACAGTGGACAAAAATCCTTCA	0.413																																					p.Q419H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1257C	19						.						72.0	74.0	73.0					19																	44470911		2203	4300	6503	49162751	SO:0001583	missense	7638	exon6			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1257A>C	19.37:g.44470911A>C	ENSP00000251269:p.Gln419His		49162751	NM_013359	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	a	13.99	2.402524	0.42613	.	.	ENSG00000159905	ENST00000251269	T	0.19250	2.16	2.41	-2.1	0.07210	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	L	0.39633	1.23	0.23309	N	0.997939	B	0.33904	0.431	P	0.46419	0.516	T	0.46247	-0.9205	9	0.87932	D	0	.	5.0261	0.14385	0.2637:0.0:0.5479:0.1884	.	419	Q9UK13	ZN221_HUMAN	H	419	ENSP00000251269:Q419H	ENSP00000251269:Q419H	Q	+	3	2	ZNF221	49162751	0.003000	0.15002	0.003000	0.11579	0.463000	0.32649	-1.489000	0.02306	-0.233000	0.09797	0.260000	0.18958	CAA		0.413	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1		
ZNF222	7673	broad.mit.edu	37	19	44536381	44536381	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44536381G>A	ENST00000187879.8	+	4	716	c.554G>A	c.(553-555)aGc>aAc	p.S185N	ZNF222_ENST00000391960.3_Missense_Mutation_p.S225N|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	185					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.S185N(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TTTAGTCAGAGCTCACGTCTG	0.428																																					p.S185N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G554A	19						.						142.0	144.0	143.0					19																	44536381		2203	4300	6503	49228221	SO:0001583	missense	7673	exon4			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.554G>A	19.37:g.44536381G>A	ENSP00000187879:p.Ser185Asn		49228221	NM_013360	G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.814104	0.32053	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.07567	3.18;5.23	2.79	0.489	0.16854	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	L	0.54908	1.71	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.17098	0.017;0.005	T	0.38972	-0.9636	9	0.30854	T	0.27	.	3.5187	0.07734	0.3686:0.1959:0.4354:0.0	.	225;185	G5E9B9;Q9UK12	.;ZN222_HUMAN	N	225;185;131	ENSP00000375822:S225N;ENSP00000187879:S185N	ENSP00000187879:S185N	S	+	2	0	ZNF222	49228221	0.000000	0.05858	0.207000	0.23584	0.719000	0.41307	-1.245000	0.02899	0.054000	0.16065	0.205000	0.17691	AGC		0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
ZNF234	10780	broad.mit.edu	37	19	44660856	44660856	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44660856G>T	ENST00000426739.2	+	6	945	c.687G>T	c.(685-687)gaG>gaT	p.E229D	ZNF234_ENST00000592437.1_Missense_Mutation_p.E229D	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	229					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.E229D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ACACTGTAGAGAAACCATTCA	0.418																																					p.E229D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G687T	19						.						135.0	138.0	137.0					19																	44660856		2203	4300	6503	49352696	SO:0001583	missense	10780	exon6			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.687G>T	19.37:g.44660856G>T	ENSP00000400878:p.Glu229Asp		49352696	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717107	0.48622	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.26810	1.71	4.19	3.16	0.36331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21267	0.0512	L	0.31294	0.92	0.21897	N	0.999489	B	0.32862	0.387	B	0.39503	0.301	T	0.13388	-1.0511	9	0.52906	T	0.07	.	6.9019	0.24286	0.0982:0.0:0.7242:0.1776	.	229	Q14588	ZN234_HUMAN	D	229;58	ENSP00000400878:E229D	ENSP00000400878:E229D	E	+	3	2	ZNF226	49352696	0.996000	0.38824	0.843000	0.33291	0.996000	0.88848	0.604000	0.24164	2.330000	0.79161	0.586000	0.80456	GAG		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2		
ZNF227	7770	broad.mit.edu	37	19	44732672	44732672	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44732672G>T	ENST00000313040.7	+	4	339	c.134G>T	c.(133-135)aGg>aTg	p.R45M	ZNF227_ENST00000589005.1_5'UTR|ZNF227_ENST00000589707.1_5'UTR|ZNF227_ENST00000391961.2_5'UTR|ZNF227_ENST00000586228.1_Missense_Mutation_p.E31D|ZNF227_ENST00000589237.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	45	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.R45M(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTTACCCAGAGGAAGCTGTAC	0.502																																					p.R45M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G134T	19						.						243.0	215.0	225.0					19																	44732672		2203	4300	6503	49424512	SO:0001583	missense	7770	exon4			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.134G>T	19.37:g.44732672G>T	ENSP00000321049:p.Arg45Met		49424512	NM_182490	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733850	0.48939	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000418980	T	0.03035	4.07	3.84	-0.667	0.11395	Krueppel-associated box (4);	.	.	.	.	T	0.16599	0.0399	M	0.93016	3.37	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.61477	0.889;0.889;0.889	T	0.03957	-1.0989	9	0.62326	D	0.03	.	7.651	0.28348	0.4116:0.0:0.5884:0.0	.	31;25;45	Q658S5;Q9NS43;Q86WZ6	.;.;ZN227_HUMAN	M	45;30;31	ENSP00000321049:R45M	ENSP00000321049:R45M	R	+	2	0	ZNF227	49424512	0.927000	0.31430	0.284000	0.24805	0.661000	0.39034	0.159000	0.16442	0.090000	0.17273	-0.339000	0.08088	AGG		0.502	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
ZNF235	9310	broad.mit.edu	37	19	44791787	44791787	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44791787A>G	ENST00000291182.4	-	5	1903	c.1801T>C	c.(1801-1803)Tgt>Cgt	p.C601R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	601					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.C601R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CATGCATCACACTTGAATGGT	0.468																																					p.C601R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1801C	19						.						159.0	145.0	150.0					19																	44791787		2203	4300	6503	49483627	SO:0001583	missense	9310	exon5			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1801T>C	19.37:g.44791787A>G	ENSP00000291182:p.Cys601Arg		49483627	NM_004234	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060496	0.55432	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	D	0.85258	-1.96	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	0.46145	D	0.000316	D	0.94627	0.8268	H	0.96048	3.76	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96091	0.9061	10	0.87932	D	0	-23.2729	14.0388	0.64663	1.0:0.0:0.0:0.0	.	597;601	Q14590-2;Q14590	.;ZN235_HUMAN	R	601;601;493	ENSP00000291182:C601R	ENSP00000291182:C601R	C	-	1	0	ZNF235	49483627	1.000000	0.71417	0.395000	0.26283	0.869000	0.49853	8.693000	0.91288	2.023000	0.59567	0.379000	0.24179	TGT		0.468	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1		
ZNF235	9310	broad.mit.edu	37	19	44791931	44791931	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44791931T>G	ENST00000291182.4	-	5	1759	c.1657A>C	c.(1657-1659)Aat>Cat	p.N553H	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N553H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AAGCTCCAATTGAAGCGCTTC	0.448																																					p.N553H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1657C	19						.						87.0	81.0	83.0					19																	44791931		2203	4300	6503	49483771	SO:0001583	missense	9310	exon5			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1657A>C	19.37:g.44791931T>G	ENSP00000291182:p.Asn553His		49483771	NM_004234	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325175	0.41197	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.07444	3.19	5.04	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000301	T	0.14874	0.0359	L	0.33339	1.005	0.09310	N	0.999998	D;D	0.76494	0.998;0.999	D;D	0.71870	0.957;0.975	T	0.02581	-1.1138	10	0.62326	D	0.03	.	7.1084	0.25376	0.1429:0.0:0.1476:0.7095	.	549;553	Q14590-2;Q14590	.;ZN235_HUMAN	H	553;553;445	ENSP00000291182:N553H	ENSP00000291182:N553H	N	-	1	0	ZNF235	49483771	0.013000	0.17824	0.998000	0.56505	0.863000	0.49368	0.853000	0.27777	2.023000	0.59567	0.379000	0.24179	AAT		0.448	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1		
ZNF112	7771	broad.mit.edu	37	19	44831754	44831754	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44831754C>A	ENST00000337401.4	-	5	2662	c.2574G>T	c.(2572-2574)gaG>gaT	p.E858D	ZNF112_ENST00000354340.4_Missense_Mutation_p.E852D|ZNF112_ENST00000536500.1_Missense_Mutation_p.E875D	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	858					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.E852D(1)									TGTATGGTTTCTCTCCTGTGT	0.438																																					p.E852D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2556T	19						.						131.0	124.0	127.0					19																	44831754		2203	4300	6503	49523594	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.2574G>T	19.37:g.44831754C>A	ENSP00000337081:p.Glu858Asp		49523594	NM_013380	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773463	0.69992	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.26810	1.71;1.71;1.71	5.07	2.94	0.34122	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34291	N	0.004084	T	0.32194	0.0821	M	0.70595	2.14	0.28144	N	0.929666	P;P;P	0.47253	0.892;0.869;0.892	P;B;P	0.45610	0.487;0.355;0.487	T	0.20207	-1.0282	10	0.59425	D	0.04	-25.1044	10.473	0.44648	0.0:0.8378:0.0:0.1622	.	857;875;858	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	D	858;858;852;875;857	ENSP00000337081:E858D;ENSP00000346305:E852D;ENSP00000441990:E875D	ENSP00000253426:E857D	E	-	3	2	ZNF285	49523594	0.649000	0.27322	0.999000	0.59377	0.988000	0.76386	-0.034000	0.12225	0.656000	0.30886	0.563000	0.77884	GAG		0.438	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
ZNF285	26974	broad.mit.edu	37	19	44892220	44892220	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44892220A>G	ENST00000330997.4	-	4	251	c.187T>C	c.(187-189)Tta>Cta	p.L63L	ZNF285_ENST00000591679.1_Silent_p.L70L|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.L63L	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	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)	p.L63L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGGTAACTTAACCCCTTTGCC	0.408																																					p.L63L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T187C	19						.						85.0	88.0	87.0					19																	44892220		2203	4300	6503	49584060	SO:0001819	synonymous_variant	26974	exon4			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.187T>C	19.37:g.44892220A>G			49584060	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																				0.408	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
ZNF180	7733	broad.mit.edu	37	19	44980932	44980932	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44980932C>A	ENST00000221327.4	-	5	2047	c.1766G>T	c.(1765-1767)aGt>aTt	p.S589I	ZNF180_ENST00000592529.1_Missense_Mutation_p.S562I|ZNF180_ENST00000391956.4_Missense_Mutation_p.S564I|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	589					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.S589I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AAGAACATAACTCTGGCTGAA	0.413																																					p.S589I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1766T	19						.						110.0	110.0	110.0					19																	44980932		2203	4300	6503	49672772	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.1766G>T	19.37:g.44980932C>A	ENSP00000221327:p.Ser589Ile		49672772	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210158	0.39003	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.31247	1.5;1.5	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000145	T	0.47248	0.1435	M	0.64997	1.995	0.21950	N	0.999454	D;D;D	0.65815	0.995;0.992;0.992	P;P;P	0.61940	0.896;0.79;0.79	T	0.40421	-0.9564	10	0.19590	T	0.45	-24.2025	14.16	0.65441	0.0:0.8496:0.1504:0.0	.	564;588;589	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	589;564	ENSP00000221327:S589I;ENSP00000375818:S564I	ENSP00000221327:S589I	S	-	2	0	ZNF180	49672772	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.281000	0.08456	2.673000	0.90976	0.591000	0.81541	AGT		0.413	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
ZNF180	7733	broad.mit.edu	37	19	44981115	44981115	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:44981115T>G	ENST00000221327.4	-	5	1864	c.1583A>C	c.(1582-1584)aAa>aCa	p.K528T	ZNF180_ENST00000592529.1_Missense_Mutation_p.K501T|ZNF180_ENST00000391956.4_Missense_Mutation_p.K503T|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	528					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.K528T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTGAAGGATTTCCCACACTG	0.408																																					p.K528T	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1583C	19						.						71.0	71.0	71.0					19																	44981115		2203	4300	6503	49672955	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.1583A>C	19.37:g.44981115T>G	ENSP00000221327:p.Lys528Thr		49672955	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511476	0.64522	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.35236	1.32;1.32	5.32	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000416	T	0.58481	0.2125	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.987;0.992;0.992	T	0.63346	-0.6658	10	0.87932	D	0	-18.6993	9.6924	0.40136	0.0:0.0833:0.0:0.9167	.	503;527;528	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	T	528;503	ENSP00000221327:K528T;ENSP00000375818:K503T	ENSP00000221327:K528T	K	-	2	0	ZNF180	49672955	0.994000	0.37717	0.975000	0.42487	0.953000	0.61014	3.579000	0.53900	2.011000	0.59026	0.383000	0.25322	AAA		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
CLASRP	11129	broad.mit.edu	37	19	45574096	45574096	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:45574096G>A	ENST00000221455.3	+	21	2116	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q	CLASRP_ENST00000391953.4_Missense_Mutation_p.R611Q|CLASRP_ENST00000544944.2_Missense_Mutation_p.R654Q	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	673	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.R673Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCATTACCGACATTAGGCA	0.562																																					p.R673Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2018A	19						.						44.0	44.0	44.0					19																	45574096		2203	4300	6503	50265936	SO:0001583	missense	11129	exon21			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.2018G>A	19.37:g.45574096G>A	ENSP00000221455:p.Arg673Gln		50265936	NM_007056	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428857	0.83667	.	.	ENSG00000104859	ENST00000221455;ENST00000391953;ENST00000544944	T;T;T	0.61392	0.85;0.11;0.79	5.77	5.77	0.91146	.	0.000000	0.31113	U	0.008229	T	0.63510	0.2517	N	0.19112	0.55	0.46044	D	0.998836	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.66847	0.947;0.947;0.885	T	0.67035	-0.5772	10	0.66056	D	0.02	-6.7694	17.4866	0.87691	0.0:0.0:1.0:0.0	.	611;654;673	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	Q	673;611;654	ENSP00000221455:R673Q;ENSP00000375815:R611Q;ENSP00000438702:R654Q	ENSP00000221455:R673Q	R	+	2	0	CLASRP	50265936	0.891000	0.30450	1.000000	0.80357	0.993000	0.82548	2.153000	0.42282	2.745000	0.94114	0.655000	0.94253	CGA		0.562	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056	
FOSB	2354	broad.mit.edu	37	19	45974495	45974495	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:45974495G>A	ENST00000353609.3	+	3	1083	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	FOSB_ENST00000592436.1_Missense_Mutation_p.R164Q|FOSB_ENST00000590335.1_3'UTR|FOSB_ENST00000417353.2_Intron|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000443841.2_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.R125Q|FOSB_ENST00000592811.1_Missense_Mutation_p.R115Q|FOSB_ENST00000586615.1_Missense_Mutation_p.R115Q	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	164	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R164Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGCCGGGAACGAAATAAACTA	0.602																																					p.R164Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491A	19						.						64.0	44.0	51.0					19																	45974495		2180	4264	6444	50666335	SO:0001583	missense	2354	exon3				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.491G>A	19.37:g.45974495G>A	ENSP00000245919:p.Arg164Gln		50666335	NM_006732	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252822	0.95336	.	.	ENSG00000125740	ENST00000353609;ENST00000455928	T	0.57595	0.39	4.19	4.19	0.49359	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	H	0.95679	3.705	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.85992	0.1489	10	0.87932	D	0	-0.0046	14.0678	0.64841	0.0:0.0:1.0:0.0	.	125;164	A8VJF0;P53539	.;FOSB_HUMAN	Q	164	ENSP00000245919:R164Q	ENSP00000245919:R164Q	R	+	2	0	FOSB	50666335	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.214000	0.95140	2.174000	0.68829	0.561000	0.74099	CGA		0.602	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732	
EML2	24139	broad.mit.edu	37	19	46117888	46117888	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:46117888A>C	ENST00000245925.3	-	17	1718	c.1668T>G	c.(1666-1668)acT>acG	p.T556T	EML2_ENST00000536630.1_Silent_p.T703T|EML2_ENST00000589876.1_Silent_p.T556T|EML2_ENST00000587152.1_Silent_p.T757T	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	556	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.T556T(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTAGGACACAAGTAGCTGTGG	0.542																																					p.T703T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2109G	19						.						284.0	236.0	252.0					19																	46117888		2203	4300	6503	50809728	SO:0001819	synonymous_variant	24139	exon20			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1668T>G	19.37:g.46117888A>C			50809728	NM_001193269	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	CCDS12670.1																																																																																				0.542	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
ARHGAP35	2909	broad.mit.edu	37	19	47423208	47423208	+	Missense_Mutation	SNP	G	G	A	rs564899532		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:47423208G>A	ENST00000404338.3	+	1	1276	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	426					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.E426K(1)									GCTGAGGAACGAAAGGAAAAG	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18533	0.0		0.0	False		,,,				2504	0.0				p.E426K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A	19						.						104.0	99.0	101.0					19																	47423208		1898	4105	6003	52115048	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.1276G>A	19.37:g.47423208G>A	ENSP00000385720:p.Glu426Lys		52115048	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549172	0.65311	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08720	3.06	6.03	6.03	0.97812	.	0.100862	0.64402	D	0.000002	T	0.22244	0.0536	M	0.71036	2.16	0.50813	D	0.999891	D	0.54601	0.967	P	0.51055	0.657	T	0.00038	-1.2248	10	0.66056	D	0.02	-30.1756	19.3283	0.94273	0.0:0.0:1.0:0.0	.	426	Q9NRY4-2	.	K	426	ENSP00000385720:E426K	ENSP00000324820:E426K	E	+	1	0	ARHGAP35	52115048	1.000000	0.71417	0.990000	0.47175	0.893000	0.52053	7.876000	0.87215	2.861000	0.98227	0.655000	0.94253	GAA		0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
C5AR2	27202	broad.mit.edu	37	19	47844186	47844186	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:47844186G>A	ENST00000595464.1	+	2	348	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	C5AR2_ENST00000600626.1_Missense_Mutation_p.A44T|C5AR2_ENST00000257267.2_Missense_Mutation_p.A44T	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	44					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.A44T(1)									ACTGTATGCCGCCATCTTCCT	0.706																																					p.A44T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G130A	19						.						58.0	62.0	61.0					19																	47844186		2201	4298	6499	52536026	SO:0001583	missense	27202	exon2			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.130G>A	19.37:g.47844186G>A	ENSP00000472620:p.Ala44Thr		52536026	NM_018485	B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869158	0.32977	.	.	ENSG00000134830	ENST00000257267	T	0.37235	1.21	4.4	2.16	0.27623	.	0.711731	0.13389	U	0.391521	T	0.34279	0.0892	L	0.60455	1.87	0.09310	N	1	P	0.50066	0.931	B	0.39771	0.309	T	0.16630	-1.0396	10	0.66056	D	0.02	.	12.0863	0.53700	0.0:0.5227:0.4773:0.0	.	44	Q9P296	C5ARL_HUMAN	T	44	ENSP00000257267:A44T	ENSP00000257267:A44T	A	+	1	0	GPR77	52536026	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	0.029000	0.13666	0.444000	0.26612	0.561000	0.74099	GCC		0.706	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485	
SLC8A2	6543	broad.mit.edu	37	19	47960730	47960730	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:47960730C>T	ENST00000236877.6	-	3	1192	c.797G>A	c.(796-798)aGc>aAc	p.S266N	SLC8A2_ENST00000542837.1_Missense_Mutation_p.S22N|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	266	Calmodulin-binding. {ECO:0000250}.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.S266N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GATGATGCCGCTGCGTGGGTC	0.667																																					p.S266N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G797A	19						.						21.0	29.0	26.0					19																	47960730		2199	4293	6492	52652542	SO:0001583	missense	6543	exon3			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.797G>A	19.37:g.47960730C>T	ENSP00000236877:p.Ser266Asn		52652542	NM_015063	B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133139	0.21041	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000542837	T;T	0.34859	1.45;1.34	3.31	3.31	0.37934	.	0.400598	0.26948	N	0.021683	T	0.22936	0.0554	N	0.22421	0.69	0.80722	D	1	B;B	0.29716	0.118;0.255	B;B	0.22152	0.037;0.038	T	0.07121	-1.0789	10	0.29301	T	0.29	.	13.5119	0.61517	0.0:1.0:0.0:0.0	.	94;266	E9PGS7;Q9UPR5	.;NAC2_HUMAN	N	94;266;22	ENSP00000236877:S266N;ENSP00000437536:S22N	ENSP00000236877:S266N	S	-	2	0	SLC8A2	52652542	0.831000	0.29352	1.000000	0.80357	0.587000	0.36485	1.778000	0.38614	1.680000	0.50976	0.313000	0.20887	AGC		0.667	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		
EHD2	30846	broad.mit.edu	37	19	48239733	48239733	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:48239733G>T	ENST00000263277.3	+	5	1274	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	EHD2_ENST00000538399.1_Missense_Mutation_p.K205N|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	341					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.K341N(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCTTTGCGAAGATTCAGCTGG	0.522																																					p.K341N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1023T	19						.						146.0	126.0	133.0					19																	48239733		2203	4300	6503	52931545	SO:0001583	missense	30846	exon5			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1023G>T	19.37:g.48239733G>T	ENSP00000263277:p.Lys341Asn		52931545	NM_014601	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122291	0.37436	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399;ENST00000454483;ENST00000540884	T;T	0.24350	2.2;1.86	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.58101	1.795	0.58432	D	0.999991	B	0.17268	0.021	B	0.21546	0.035	T	0.08534	-1.0717	10	0.37606	T	0.19	-37.3894	14.1952	0.65667	0.0:0.0:1.0:0.0	.	341	Q9NZN4	EHD2_HUMAN	N	341;341;331;205;24;24	ENSP00000263277:K341N;ENSP00000439036:K205N	ENSP00000263277:K341N	K	+	3	2	EHD2	52931545	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.168000	0.42424	2.117000	0.64856	0.511000	0.50034	AAG		0.522	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1		
SULT2A1	6822	broad.mit.edu	37	19	48386856	48386856	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:48386856G>T	ENST00000222002.3	-	2	462	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	108					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.S108Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	ACTGAAGAAAGACTTGGGGAA	0.463																																					p.S108Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C323A	19						.						143.0	105.0	118.0					19																	48386856		2203	4300	6503	53078668	SO:0001583	missense	6822	exon2			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.323C>A	19.37:g.48386856G>T	ENSP00000222002:p.Ser108Tyr		53078668	NM_003167		Missense_Mutation	SNP	ENST00000222002.3	37	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133584	0.37630	.	.	ENSG00000105398	ENST00000222002	D	0.84516	-1.86	3.57	3.57	0.40892	Sulfotransferase domain (1);	0.114571	0.37577	N	0.002027	D	0.93615	0.7961	M	0.93638	3.44	0.44719	D	0.997719	D	0.89917	1.0	D	0.85130	0.997	D	0.94867	0.8027	10	0.87932	D	0	.	13.0525	0.58962	0.0:0.0:1.0:0.0	.	108	Q06520	ST2A1_HUMAN	Y	108	ENSP00000222002:S108Y	ENSP00000222002:S108Y	S	-	2	0	SULT2A1	53078668	0.616000	0.27035	0.896000	0.35187	0.113000	0.19764	2.275000	0.43399	2.027000	0.59764	0.643000	0.83706	TCT		0.463	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167	
CARD8	22900	broad.mit.edu	37	19	48714976	48714976	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:48714976C>A	ENST00000359009.4	-	10	1599	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000521613.1_Missense_Mutation_p.Q485H|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000519940.1_Missense_Mutation_p.Q535H|CARD8_ENST00000447740.2_Missense_Mutation_p.Q485H|CARD8_ENST00000520153.1_Missense_Mutation_p.Q485H|CTC-453G23.8_ENST00000595201.1_RNA|CARD8_ENST00000391898.3_Missense_Mutation_p.Q535H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_Intron			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	429	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)	p.Q429H(1)		endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TTTACAAATTCTGCTGTCTAA	0.443																																					p.Q485H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1455T	19						.						123.0	119.0	121.0					19																	48714976		2203	4300	6503	53406788	SO:0001583	missense	22900	exon12			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.1287G>T	19.37:g.48714976C>A	ENSP00000351901:p.Gln429His		53406788	NM_014959	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37		.	.	.	.	.	.	.	.	.	.	C	6.657	0.489759	0.12702	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520153;ENST00000521613;ENST00000519940	T;T;T;T;T;T	0.13538	2.62;2.58;2.66;2.62;2.62;2.58	2.01	-2.12	0.07165	DEATH-like (1);Caspase Recruitment (1);	.	.	.	.	T	0.07143	0.0181	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.12630	0.002;0.006;0.002;0.002	B;B;B;B	0.12837	0.005;0.008;0.003;0.003	T	0.35051	-0.9804	9	0.56958	D	0.05	.	4.3611	0.11203	0.4445:0.3364:0.2192:0.0	.	454;535;485;429	B5KVR7;E9PEM7;G3XAM9;Q9Y2G2	.;.;.;CARD8_HUMAN	H	485;535;429;485;485;535	ENSP00000391248:Q485H;ENSP00000375767:Q535H;ENSP00000351901:Q429H;ENSP00000428736:Q485H;ENSP00000427858:Q485H;ENSP00000428883:Q535H	ENSP00000351901:Q429H	Q	-	3	2	CARD8	53406788	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-1.469000	0.02348	-0.400000	0.07656	-0.230000	0.12252	CAG		0.443	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959	
ZNF114	163071	broad.mit.edu	37	19	48783061	48783061	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:48783061C>T	ENST00000595607.1	+	4	499	c.5C>T	c.(4-6)tCc>tTc	p.S2F	ZNF114_ENST00000315849.1_Missense_Mutation_p.S2F|ZNF114_ENST00000597695.1_Intron|ZNF114_ENST00000600687.1_Missense_Mutation_p.S2F			Q8NC26	ZN114_HUMAN	zinc finger protein 114	2					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)	p.S2F(1)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ACAAATATGTCCCAGGTAAGT	0.552																																					p.S2F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	19						.						143.0	95.0	111.0					19																	48783061		2203	4300	6503	53474873	SO:0001583	missense	163071	exon3			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.5C>T	19.37:g.48783061C>T	ENSP00000469998:p.Ser2Phe		53474873	NM_153608	A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	c	11.76	1.734850	0.30774	.	.	ENSG00000178150	ENST00000315849	T	0.00808	5.67	1.16	1.16	0.20824	Krueppel-associated box (1);	.	.	.	.	T	0.01387	0.0045	N	0.17631	0.505	0.09310	N	1	D	0.64830	0.994	D	0.69654	0.965	T	0.47156	-0.9139	9	0.07644	T	0.81	.	5.7577	0.18182	0.0:1.0:0.0:0.0	.	2	Q8NC26	ZN114_HUMAN	F	2	ENSP00000318898:S2F	ENSP00000318898:S2F	S	+	2	0	ZNF114	53474873	0.004000	0.15560	0.005000	0.12908	0.203000	0.24098	1.052000	0.30429	0.941000	0.37499	0.399000	0.26434	TCC		0.552	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608	
GRIN2D	2906	broad.mit.edu	37	19	48917832	48917832	+	Missense_Mutation	SNP	G	G	A	rs375977344		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:48917832G>A	ENST00000263269.3	+	5	1491	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	468					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.R468Q(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCTCAACCGAACCCACAGG	0.657																																					p.R468Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1403A	19						.						31.0	27.0	28.0					19																	48917832		2153	4232	6385	53609644	SO:0001583	missense	2906	exon5			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1403G>A	19.37:g.48917832G>A	ENSP00000263269:p.Arg468Gln		53609644	NM_000836		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397695	0.42512	.	.	ENSG00000105464	ENST00000263269	T	0.12039	2.72	4.27	1.96	0.26148	Ionotropic glutamate receptor (1);	0.354139	0.25854	N	0.027870	T	0.05823	0.0152	L	0.38175	1.15	0.28852	N	0.896001	P	0.45569	0.861	B	0.17722	0.019	T	0.34576	-0.9823	10	0.13853	T	0.58	.	8.3848	0.32494	0.0904:0.0:0.7555:0.1541	.	468	O15399	NMDE4_HUMAN	Q	468	ENSP00000263269:R468Q	ENSP00000263269:R468Q	R	+	2	0	GRIN2D	53609644	0.943000	0.32029	0.990000	0.47175	0.991000	0.79684	0.303000	0.19210	1.162000	0.42619	0.655000	0.94253	CGA		0.657	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
RASIP1	54922	broad.mit.edu	37	19	49228169	49228169	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:49228169C>T	ENST00000222145.4	-	9	2380	c.2176G>A	c.(2176-2178)Gct>Act	p.A726T		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	726	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)		p.A726T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TCTGCACCAGCTGTGAAAGGG	0.572																																					p.A726T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2176A	19						.						47.0	52.0	51.0					19																	49228169		2203	4300	6503	53919981	SO:0001583	missense	54922	exon9			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2176G>A	19.37:g.49228169C>T	ENSP00000222145:p.Ala726Thr		53919981	NM_017805	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544689	0.45280	.	.	ENSG00000105538	ENST00000222145	T	0.22743	1.94	4.74	4.74	0.60224	Dilute (1);	0.497530	0.19663	N	0.108928	T	0.10208	0.0250	N	0.05078	-0.115	0.41059	D	0.985365	B	0.26975	0.165	B	0.24006	0.05	T	0.12502	-1.0545	10	0.07990	T	0.79	-8.3152	15.6622	0.77197	0.0:1.0:0.0:0.0	.	726	Q5U651	RAIN_HUMAN	T	726	ENSP00000222145:A726T	ENSP00000222145:A726T	A	-	1	0	RASIP1	53919981	0.997000	0.39634	0.968000	0.41197	0.956000	0.61745	4.326000	0.59241	2.384000	0.81235	0.650000	0.86243	GCT		0.572	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805	
PPFIA3	8541	broad.mit.edu	37	19	49651449	49651449	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:49651449G>A	ENST00000334186.4	+	24	3294	c.2945G>A	c.(2944-2946)cGa>cAa	p.R982Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R973Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	982	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.R982Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGACGCTCGAATGTTAGAT	0.592																																					p.R982Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2945A	19						.						57.0	56.0	56.0					19																	49651449		2203	4300	6503	54343261	SO:0001583	missense	8541	exon24			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2945G>A	19.37:g.49651449G>A	ENSP00000335614:p.Arg982Gln		54343261	NM_003660	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474652	0.96291	.	.	ENSG00000177380	ENST00000334186	T	0.48522	0.81	4.59	4.59	0.56863	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.43747	D	0.000534	T	0.71384	0.3333	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.91;0.999	T	0.77357	-0.2618	10	0.87932	D	0	-7.6618	16.5581	0.84491	0.0:0.0:1.0:0.0	.	973;982	O75145-2;O75145	.;LIPA3_HUMAN	Q	982	ENSP00000335614:R982Q	ENSP00000335614:R982Q	R	+	2	0	PPFIA3	54343261	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	9.800000	0.99124	2.272000	0.75746	0.563000	0.77884	CGA		0.592	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	
SIGLEC11	114132	broad.mit.edu	37	19	50455586	50455586	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:50455586G>A	ENST00000447370.2	-	9	1807	c.1717C>T	c.(1717-1719)Ctc>Ttc	p.L573F	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.L477F|CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	573					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L561F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGAAAGCGAGCAGGGCAGCG	0.632																																					p.L477F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1429T	19						.						81.0	81.0	81.0					19																	50455586		2203	4300	6503	55147398	SO:0001583	missense	114132	exon8			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1717C>T	19.37:g.50455586G>A	ENSP00000412361:p.Leu573Phe		55147398	NM_001135163		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339108	0.41398	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.61158	0.13	3.32	2.26	0.28386	.	0.151159	0.31051	N	0.008347	T	0.72145	0.3424	M	0.82323	2.585	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.942	T	0.60052	-0.7338	10	0.48119	T	0.1	.	6.7773	0.23626	0.1434:0.0:0.8566:0.0	.	477;573	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	F	573;477	ENSP00000412361:L573F	ENSP00000412361:L573F	L	-	1	0	SIGLEC11	55147398	0.009000	0.17119	0.032000	0.17829	0.008000	0.06430	0.341000	0.19909	0.670000	0.31165	0.462000	0.41574	CTC		0.632	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
SIGLEC11	114132	broad.mit.edu	37	19	50462324	50462324	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:50462324C>A	ENST00000447370.2	-	6	1158	c.1068G>T	c.(1066-1068)gaG>gaT	p.E356D	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.E356D|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	356	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E344D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCTCAGGTTCTCTGGAGGAT	0.572																																					p.E356D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1068T	19						.						70.0	72.0	71.0					19																	50462324		2203	4298	6501	55154136	SO:0001583	missense	114132	exon6			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1068G>T	19.37:g.50462324C>A	ENSP00000412361:p.Glu356Asp		55154136	NM_001135163		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.84|14.84	2.654963|2.654963	0.47467|0.47467	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.29142|.	1.58|.	2.33|2.33	1.24|1.24	0.21308|0.21308	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.149362|.	0.30704|.	N|.	0.009058|.	T|T	0.41190|0.41190	0.1148|0.1148	L|L	0.59436|0.59436	1.845|1.845	0.22389|0.22389	N|N	0.999149|0.999149	B;B|.	0.33694|.	0.421;0.17|.	B;B|.	0.38842|.	0.283;0.143|.	T|T	0.31752|0.31752	-0.9932|-0.9932	10|5	0.34782|.	T|.	0.22|.	.|.	5.4175|5.4175	0.16382|0.16382	0.0:0.8124:0.0:0.1876|0.0:0.8124:0.0:0.1876	.|.	356;356|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	D|I	356|346	ENSP00000412361:E356D|.	ENSP00000412361:E356D|.	E|R	-|-	3|2	2|0	SIGLEC11|SIGLEC11	55154136|55154136	0.025000|0.025000	0.19082|0.19082	0.137000|0.137000	0.22149|0.22149	0.935000|0.935000	0.57460|0.57460	0.823000|0.823000	0.27366|0.27366	0.264000|0.264000	0.21851|0.21851	0.556000|0.556000	0.70494|0.70494	GAG|AGA		0.572	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
ZNF473	25888	broad.mit.edu	37	19	50549532	50549532	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:50549532G>T	ENST00000595661.1	+	6	2327	c.1832G>T	c.(1831-1833)aGa>aTa	p.R611I	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.R599I|ZNF473_ENST00000270617.3_Missense_Mutation_p.R611I|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.R611I|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	611					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.R611I(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)		CACCATCAAAGAATCCACTCT	0.502																																					p.R611I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1832T	19						.						72.0	66.0	68.0					19																	50549532		2203	4300	6503	55241344	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.1832G>T	19.37:g.50549532G>T	ENSP00000472808:p.Arg611Ile		55241344	NM_001006656	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702653	0.30232	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.32753	1.44;1.44;1.44	4.45	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.110990	0.06893	N	0.804617	T	0.28863	0.0716	M	0.71036	2.16	0.27145	N	0.961551	B	0.25048	0.117	B	0.17722	0.019	T	0.38090	-0.9677	10	0.54805	T	0.06	-0.4821	4.0883	0.09957	0.4527:0.0:0.3699:0.1775	.	611	Q8WTR7	ZN473_HUMAN	I	611;611;599	ENSP00000270617:R611I;ENSP00000375697:R611I;ENSP00000388961:R599I	ENSP00000270617:R611I	R	+	2	0	ZNF473	55241344	0.000000	0.05858	0.000000	0.03702	0.523000	0.34469	-0.639000	0.05446	-0.133000	0.11537	0.609000	0.83330	AGA		0.502	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
SHANK1	50944	broad.mit.edu	37	19	51165405	51165405	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:51165405G>A	ENST00000293441.1	-	23	6321	c.6303C>T	c.(6301-6303)ttC>ttT	p.F2101F	SHANK1_ENST00000359082.3_Silent_p.F2092F|SHANK1_ENST00000483981.2_5'Flank|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Silent_p.F1488F|SHANK1_ENST00000391814.1_Silent_p.F2109F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2101	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.F2101F(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGCCACGTCGAACTTGGTCC	0.657																																					p.F2101F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6303T	19						.						68.0	63.0	65.0					19																	51165405		2203	4300	6503	55857217	SO:0001819	synonymous_variant	50944	exon23			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6303C>T	19.37:g.51165405G>A			55857217	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																				0.657	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
SAFB	6294	broad.mit.edu	37	19	5654190	5654190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:5654190C>T	ENST00000292123.5	+	12	1752	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	SAFB_ENST00000433404.1_Nonsense_Mutation_p.R379*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.R480*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.R549*|SAFB_ENST00000592224.1_Nonsense_Mutation_p.R549*|SAFB_ENST00000538656.1_Nonsense_Mutation_p.R392*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	549	Interaction with POLR2A.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R549*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCCCTCAGAGCGATCTCGAGC	0.483																																					p.R549X	Colon(88;338 1345 6184 8214 20897)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1645T	19						.						79.0	73.0	75.0					19																	5654190		2203	4300	6503	5605190	SO:0001587	stop_gained	6294	exon12			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1645C>T	19.37:g.5654190C>T	ENSP00000292123:p.Arg549*		5605190	NM_002967	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Nonsense_Mutation	SNP	ENST00000292123.5	37	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	38	7.155088	0.98099	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	.	.	.	5.34	4.29	0.51040	.	0.295385	0.24396	N	0.038889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0535	16.1259	0.81395	0.0:0.8661:0.1339:0.0	.	.	.	.	X	480;444;379;549;392	.	ENSP00000292123:R549X	R	+	1	2	SAFB	5605190	0.901000	0.30685	0.846000	0.33378	0.921000	0.55340	0.903000	0.28475	1.351000	0.45789	0.563000	0.77884	CGA		0.483	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		
SHANK1	50944	broad.mit.edu	37	19	51189506	51189506	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:51189506G>T	ENST00000293441.1	-	20	2583	c.2565C>A	c.(2563-2565)ttC>ttA	p.F855L	SHANK1_ENST00000359082.3_Missense_Mutation_p.F846L|SHANK1_ENST00000391813.1_Missense_Mutation_p.F242L|SHANK1_ENST00000391814.1_Missense_Mutation_p.F863L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	855					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.F855L(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGTGGCAAAGAAACCTTTGG	0.607																																					p.F855L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2565A	19						.						69.0	60.0	63.0					19																	51189506		2203	4300	6503	55881318	SO:0001583	missense	50944	exon20			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2565C>A	19.37:g.51189506G>T	ENSP00000293441:p.Phe855Leu		55881318	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	8.875	0.950214	0.18431	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	3.75	1.59	0.23543	.	0.594068	0.13014	U	0.420646	T	0.42720	0.1215	L	0.34521	1.04	0.39077	D	0.960831	B;D	0.54207	0.228;0.965	B;P	0.50082	0.088;0.63	T	0.35176	-0.9799	10	0.12766	T	0.61	-13.7017	6.0654	0.19860	0.4243:0.0:0.5757:0.0	.	855;242	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	L	855;242;846;863	ENSP00000293441:F855L;ENSP00000375689:F242L;ENSP00000351984:F846L;ENSP00000375690:F863L	ENSP00000293441:F855L	F	-	3	2	SHANK1	55881318	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	2.250000	0.43178	0.392000	0.25172	-0.707000	0.03653	TTC		0.607	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
KLK4	9622	broad.mit.edu	37	19	51411635	51411635	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:51411635C>A	ENST00000324041.1	-	4	591	c.592G>T	c.(592-594)Gac>Tac	p.D198Y	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	198	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D198Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TCCTTCTGGTCGTGCCCTCCG	0.632																																					p.D198Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G592T	19						.						105.0	89.0	95.0					19																	51411635		2203	4300	6503	56103447	SO:0001583	missense	9622	exon4			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.592G>T	19.37:g.51411635C>A	ENSP00000326159:p.Asp198Tyr		56103447	NM_004917	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	9.274	1.046441	0.19748	.	.	ENSG00000167749	ENST00000324041	D	0.88509	-2.39	3.68	1.51	0.23008	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.438594	0.16797	N	0.199134	D	0.88779	0.6529	L	0.33485	1.01	0.09310	N	0.999999	D	0.76494	0.999	D	0.67103	0.949	T	0.79212	-0.1896	10	0.72032	D	0.01	.	7.5502	0.27793	0.0:0.7791:0.0:0.2209	.	198	Q9Y5K2	KLK4_HUMAN	Y	198	ENSP00000326159:D198Y	ENSP00000326159:D198Y	D	-	1	0	KLK4	56103447	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.048000	0.30379	0.348000	0.23949	-0.266000	0.10368	GAC		0.632	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	
SIGLEC10	89790	broad.mit.edu	37	19	51917071	51917071	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:51917071C>T	ENST00000339313.5	-	10	1832	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.K572K|SIGLEC10_ENST00000432469.2_Silent_p.K394K|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Silent_p.K514K|SIGLEC10_ENST00000353836.5_Silent_p.K477K|SIGLEC10_ENST00000441969.3_Silent_p.K419K|SIGLEC10_ENST00000525998.1_Silent_p.K387K|SIGLEC10_ENST00000436984.2_Silent_p.K429K|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Silent_p.K329K			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	572					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.K572K(1)|p.K514K(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)		TCGGTAGAATCTTCATGCTGA	0.552																																					p.K477K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1431A	19						.						115.0	100.0	105.0					19																	51917071		2203	4300	6503	56608883	SO:0001819	synonymous_variant	89790	exon9			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.1716G>A	19.37:g.51917071C>T			56608883	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																				0.552	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
CEACAM18	729767	broad.mit.edu	37	19	51984890	51984890	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:51984890G>T	ENST00000396477.4	+	3	665	c.644G>T	c.(643-645)aGa>aTa	p.R215I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.R276I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	215								p.R276I(1)|p.R215I(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCTTTCAGAGAAGTGAACGC	0.517																																					p.R276I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G827T	19						.						72.0	67.0	68.0					19																	51984890		1962	4150	6112	56676702	SO:0001583	missense	729767	exon4					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.644G>T	19.37:g.51984890G>T	ENSP00000379738:p.Arg215Ile		56676702	NM_001080405	C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37		.	.	.	.	.	.	.	.	.	.	.	8.634	0.894423	0.17613	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.76448	-1.02	2.72	-5.44	0.02624	.	.	.	.	.	T	0.74839	0.3769	M	0.77712	2.385	0.09310	N	1	B	0.28933	0.228	B	0.32465	0.146	T	0.65763	-0.6089	9	0.54805	T	0.06	-1.7329	10.0691	0.42322	0.7681:0.0:0.2319:0.0	.	276	A8MTB9	CEA18_HUMAN	I	276;215;215	ENSP00000402203:R276I	ENSP00000379738:R215I	R	+	2	0	CEACAM18	56676702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.200000	0.03029	-1.386000	0.02098	-1.412000	0.01120	AGA		0.517	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		
SIGLEC14	100049587	broad.mit.edu	37	19	52147284	52147284	+	Missense_Mutation	SNP	G	G	A	rs577477660		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:52147284G>A	ENST00000360844.6	-	5	801	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	254	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R247W(1)|p.R254W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CTCAGGATCCGCAGGGCTGGG	0.592																																					p.R254W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C760T	19						.						21.0	25.0	24.0					19																	52147284		1937	4082	6019	56839096	SO:0001583	missense	100049587	exon5			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.760C>T	19.37:g.52147284G>A	ENSP00000354090:p.Arg254Trp		56839096	NM_001098612	Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756360	0.31137	.	.	ENSG00000254415	ENST00000360844	T	0.33216	1.42	2.51	1.47	0.22746	Immunoglobulin-like (1);	2.076500	0.02883	N	0.133085	T	0.36054	0.0953	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.29305	-1.0016	10	0.87932	D	0	.	5.5864	0.17277	0.0:0.0:0.316:0.684	.	254	Q08ET2	SIG14_HUMAN	W	254	ENSP00000354090:R254W	ENSP00000354090:R254W	R	-	1	2	SIGLEC14	56839096	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.078000	0.11375	0.398000	0.25338	-0.457000	0.05445	CGG		0.592	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612	
ZNF615	284370	broad.mit.edu	37	19	52496734	52496734	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:52496734C>T	ENST00000602063.1	-	6	1944	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	ZNF615_ENST00000376716.5_Missense_Mutation_p.R532Q|ZNF615_ENST00000598071.1_Missense_Mutation_p.R543Q|ZNF615_ENST00000391795.3_Missense_Mutation_p.R537Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.R543Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	532					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.R543Q(2)|p.R532Q(2)		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)		TGTATGAGTTCGTTGATGTCC	0.443																																					p.R532Q												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G1595A	19						.						122.0	109.0	113.0					19																	52496734		2203	4300	6503	57188546	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.1595G>A	19.37:g.52496734C>T	ENSP00000473089:p.Arg532Gln		57188546	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.252389|3.252389	0.59212|0.59212	.|.	.|.	ENSG00000197619|ENSG00000197619	ENST00000391793|ENST00000376716;ENST00000354939;ENST00000391795	.|T;T	.|0.24723	.|1.84;1.84	3.08|3.08	3.08|3.08	0.35506|0.35506	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.43809	.|0.1264	L|L	0.56340|0.56340	1.77|1.77	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.66497	.|0.944;0.936;0.936;0.944	.|T	.|0.20739	.|-1.0266	.|9	.|0.66056	.|D	.|0.02	.|.	13.3885|13.3885	0.60809|0.60809	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|537;539;543;532	.|B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.|.;.;.;ZN615_HUMAN	.|Q	-1|532;542;537	.|ENSP00000365906:R532Q;ENSP00000375672:R537Q	.|ENSP00000347019:R542Q	.|R	-|-	.|2	.|0	ZNF615|ZNF615	57188546|57188546	0.000000|0.000000	0.05858|0.05858	0.807000|0.807000	0.32361|0.32361	0.994000|0.994000	0.84299|0.84299	-0.493000|-0.493000	0.06459|0.06459	1.703000|1.703000	0.51240|0.51240	0.591000|0.591000	0.81541|0.81541	.|CGA		0.443	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	52497937	52497937	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:52497937T>C	ENST00000602063.1	-	6	741	c.392A>G	c.(391-393)gAc>gGc	p.D131G	ZNF615_ENST00000376716.5_Missense_Mutation_p.D131G|ZNF615_ENST00000598071.1_Missense_Mutation_p.D142G|ZNF615_ENST00000391795.3_Missense_Mutation_p.D136G|ZNF615_ENST00000594083.1_Missense_Mutation_p.D142G			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	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.D131G(1)|p.D142G(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)		TTCATGTAAGTCAAACGTATC	0.353																																					p.D131G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A392G	19						.						43.0	45.0	44.0					19																	52497937		2203	4300	6503	57189749	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.392A>G	19.37:g.52497937T>C	ENSP00000473089:p.Asp131Gly		57189749	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	T	1.668	-0.509788	0.04231	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07908	3.17;3.15	2.89	-0.488	0.12056	.	.	.	.	.	T	0.05090	0.0136	N	0.21282	0.65	0.09310	N	1	B;B;B;B	0.13594	0.005;0.008;0.008;0.005	B;B;B;B	0.11329	0.003;0.006;0.006;0.003	T	0.43877	-0.9364	9	0.26408	T	0.33	.	5.7093	0.17925	0.0:0.4367:0.0:0.5633	.	136;138;142;131	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	G	131;141;136;141	ENSP00000365906:D131G;ENSP00000375672:D136G	ENSP00000347019:D141G	D	-	2	0	ZNF615	57189749	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.158000	0.16422	-0.328000	0.08539	-0.250000	0.11733	GAC		0.353	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
ZNF534	147658	broad.mit.edu	37	19	52941324	52941324	+	Missense_Mutation	SNP	G	G	A	rs151189562	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:52941324G>A	ENST00000332323.6	+	4	711	c.650G>A	c.(649-651)cGt>cAt	p.R217H	ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CTTACTAACCGTCAAGTAATC	0.388													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20301	0.0		0.0	False		,,,				2504	0.0				p.R217H												.	.	0			c.G650A	19						.	G	HIS/ARG,HIS/ARG	2,3134		0,2,1566	102.0	90.0	94.0		611,650	0.5	0.0	19	dbSNP_134	94	0,7164		0,0,3582	no	missense,missense	ZNF534	NM_001143938.1,NM_001143939.1	29,29	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,benign	204/662,217/675	52941324	2,10298	1568	3582	5150	57633136	SO:0001583	missense	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.650G>A	19.37:g.52941324G>A	ENSP00000327538:p.Arg217His		57633136	NM_001143939	Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.005	-2.209788	0.00292	6.38E-4	0.0	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.04551	3.6;3.6	1.63	0.516	0.17019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00552	0.0018	N	0.00005	-3.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45977	-0.9224	9	0.02654	T	1	.	3.1434	0.06463	0.5952:0.2428:0.162:0.0	.	204;217	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	217;204;216	ENSP00000327538:R217H;ENSP00000391358:R204H	ENSP00000327538:R217H	R	+	2	0	ZNF534	57633136	0.249000	0.23941	0.001000	0.08648	0.001000	0.01503	1.750000	0.38329	-0.089000	0.12484	-0.606000	0.04082	CGT		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	53058233	53058233	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53058233C>T	ENST00000359798.4	+	5	2244	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAAGGCTTTCGTGTGTCGTT	0.423																																					p.F688F												.	.	0			c.C2064T	19						.						183.0	186.0	185.0					19																	53058233		2203	4300	6503	57750045	SO:0001819	synonymous_variant	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.2064C>T	19.37:g.53058233C>T			57750045	NM_001039886	Q68CN7	Silent	SNP	ENST00000359798.4	37	CCDS46167.1																																																																																				0.423	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886	
ZNF83	55769	broad.mit.edu	37	19	53117315	53117315	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53117315C>T	ENST00000597597.1	-	2	2756	c.503G>A	c.(502-504)cGc>cAc	p.R168H	ZNF83_ENST00000391789.4_Missense_Mutation_p.R168H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Missense_Mutation_p.R168H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.R168H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.R168H|ZNF83_ENST00000541777.2_Missense_Mutation_p.R168H|ZNF83_ENST00000536937.1_Missense_Mutation_p.R168H			P51522	ZNF83_HUMAN	zinc finger protein 83	168					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.R168H(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)		ATGAATCCTGCGATGCTGTGC	0.378																																					p.R168H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G503A	19						.						61.0	61.0	61.0					19																	53117315		2203	4300	6503	57809127	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.503G>A	19.37:g.53117315C>T	ENSP00000472619:p.Arg168His		57809127	NM_001105552	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	11.09	1.536344	0.27475	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21	1.7	-3.41	0.04839	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30262	0.0759	M	0.66378	2.025	0.09310	N	1	B;D	0.89917	0.066;1.0	B;D	0.75484	0.004;0.986	T	0.12218	-1.0556	9	0.54805	T	0.06	.	3.6993	0.08376	0.315:0.1599:0.0:0.525	.	168;168	P51522-2;P51522	.;ZNF83_HUMAN	H	168	ENSP00000445993:R168H;ENSP00000301096:R168H;ENSP00000445470:R168H;ENSP00000440713:R168H;ENSP00000439681:R168H;ENSP00000375666:R168H	ENSP00000301096:R168H	R	-	2	0	ZNF83	57809127	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.103000	0.15292	-1.415000	0.02022	-0.518000	0.04402	CGC		0.378	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300	
ZNF611	81856	broad.mit.edu	37	19	53209720	53209720	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53209720A>C	ENST00000319783.1	-	7	904	c.588T>G	c.(586-588)atT>atG	p.I196M	ZNF611_ENST00000453741.2_Missense_Mutation_p.I127M|ZNF611_ENST00000543227.1_Missense_Mutation_p.I196M|ZNF611_ENST00000602162.1_Missense_Mutation_p.I127M|ZNF611_ENST00000595798.1_Missense_Mutation_p.I127M|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.I196M	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	196					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.I196M(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GCCTACAGGAAATTCTTTGGA	0.378																																					p.I127M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T381G	19						.						121.0	126.0	124.0					19																	53209720		2203	4300	6503	57901532	SO:0001583	missense	81856	exon5			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.588T>G	19.37:g.53209720A>C	ENSP00000322427:p.Ile196Met		57901532	NM_001161501	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.340197	0.24339	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.10192	3.07;3.07;2.9;3.07	1.97	1.97	0.26223	.	.	.	.	.	T	0.28466	0.0704	M	0.83312	2.635	0.09310	N	1	D	0.71674	0.998	D	0.64687	0.928	T	0.04522	-1.0945	9	0.56958	D	0.05	.	5.8651	0.18771	1.0:0.0:0.0:0.0	.	196	Q8N823	ZN611_HUMAN	M	196;196;127;196	ENSP00000437616:I196M;ENSP00000439211:I196M;ENSP00000443505:I127M;ENSP00000322427:I196M	ENSP00000322427:I196M	I	-	3	3	ZNF611	57901532	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	1.388000	0.34442	0.899000	0.36444	0.254000	0.18369	ATT		0.378	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF600	162966	broad.mit.edu	37	19	53269918	53269918	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53269918C>A	ENST00000338230.3	-	3	1358	c.1091G>T	c.(1090-1092)gGc>gTc	p.G364V		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	364					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.G364V(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GAAGGTCTTGCCACACTCATT	0.413																																					p.G364V	Esophageal Squamous(196;1235 2112 2375 33339 34207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1091T	19						.						144.0	139.0	141.0					19																	53269918		2203	4300	6503	57961730	SO:0001583	missense	162966	exon3			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1091G>T	19.37:g.53269918C>A	ENSP00000344791:p.Gly364Val		57961730	NM_198457	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	8.824	0.938302	0.18206	.	.	ENSG00000189190	ENST00000338230	T	0.58358	0.34	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62962	0.2471	H	0.94620	3.56	0.46981	D	0.999278	P	0.51351	0.944	P	0.46026	0.501	T	0.67964	-0.5534	9	0.72032	D	0.01	.	5.8558	0.18718	0.0:0.8138:0.0:0.1862	.	364	Q6ZNG1	ZN600_HUMAN	V	364	ENSP00000344791:G364V	ENSP00000344791:G364V	G	-	2	0	ZNF600	57961730	0.000000	0.05858	0.095000	0.20976	0.175000	0.22909	-0.050000	0.11904	0.883000	0.36040	0.306000	0.20318	GGC		0.413	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457	
ZNF600	162966	broad.mit.edu	37	19	53270128	53270128	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53270128C>A	ENST00000338230.3	-	3	1148	c.881G>T	c.(880-882)aGa>aTa	p.R294I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	294					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.R294I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGTATGAATTCTACGATGACG	0.363																																					p.R294I	Esophageal Squamous(196;1235 2112 2375 33339 34207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G881T	19						.						78.0	79.0	78.0					19																	53270128		2203	4300	6503	57961940	SO:0001583	missense	162966	exon3			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.881G>T	19.37:g.53270128C>A	ENSP00000344791:p.Arg294Ile		57961940	NM_198457	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	4.350	0.064371	0.08388	.	.	ENSG00000189190	ENST00000338230	T	0.02446	4.29	1.57	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	M	0.76433	2.335	0.35839	D	0.825909	B	0.14012	0.009	B	0.11329	0.006	T	0.07385	-1.0775	9	0.40728	T	0.16	.	7.6298	0.28232	0.0:0.7329:0.2671:0.0	.	294	Q6ZNG1	ZN600_HUMAN	I	294	ENSP00000344791:R294I	ENSP00000344791:R294I	R	-	2	0	ZNF600	57961940	0.000000	0.05858	0.038000	0.18304	0.202000	0.24057	-4.086000	0.00298	0.877000	0.35895	0.298000	0.19748	AGA		0.363	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457	
ZNF28	7576	broad.mit.edu	37	19	53304746	53304746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53304746C>A	ENST00000457749.2	-	4	471	c.352G>T	c.(352-354)Gag>Tag	p.E118*	ZNF28_ENST00000438150.2_Nonsense_Mutation_p.E65*|ZNF28_ENST00000414252.2_Nonsense_Mutation_p.E65*|ZNF28_ENST00000360272.4_Nonsense_Mutation_p.E65*|ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000594602.1_3'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E65*(1)		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)		CCAGTCAACTCTTTGATTTCT	0.403																																					p.E118X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G352T	19						.						279.0	259.0	266.0					19																	53304746		2203	4300	6503	57996558	SO:0001587	stop_gained	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.352G>T	19.37:g.53304746C>A	ENSP00000397693:p.Glu118*		57996558	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Nonsense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	22.7	4.327672	0.81690	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783;ENST00000339844	.	.	.	1.81	0.681	0.17986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.6643	0.08250	0.0:0.2246:0.0:0.7754	.	.	.	.	X	65;118;65;65;65;6	.	ENSP00000344777:E6X	E	-	1	0	ZNF28	57996558	0.000000	0.05858	0.012000	0.15200	0.032000	0.12392	0.105000	0.15333	-0.001000	0.14495	-0.849000	0.03036	GAG		0.403	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF468	90333	broad.mit.edu	37	19	53344184	53344184	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53344184C>T	ENST00000595646.1	-	4	1483	c.1363G>A	c.(1363-1365)Gca>Aca	p.A455T	ZNF468_ENST00000390651.4_Missense_Mutation_p.A402T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.A402T|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	455					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.A455T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGATGTTGTGCCAGGTGTGAA	0.443																																					p.A402T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1204A	19						.						124.0	131.0	129.0					19																	53344184		2203	4300	6503	58035996	SO:0001583	missense	90333	exon5			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1363G>A	19.37:g.53344184C>T	ENSP00000470381:p.Ala455Thr		58035996	NM_199132	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	2.748|2.748	-0.260661|-0.260661	0.05791|0.05791	.|.	.|.	ENSG00000204604|ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651|ENST00000393865	T;T|.	0.07688|.	3.17;3.17|.	1.92|1.92	-1.97|-1.97	0.07503|0.07503	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|.	0.11110|.	0.0271|.	N|N	0.03154|0.03154	-0.405|-0.405	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.16289|.	0.015|.	T|.	0.19192|.	-1.0313|.	9|.	0.02654|0.51188	T|T	1|0.08	.|.	2.9349|2.9349	0.05811|0.05811	0.1914:0.3284:0.0:0.4802|0.1914:0.3284:0.0:0.4802	.|.	455|.	Q5VIY5|.	ZN468_HUMAN|.	T|X	455;402;402|202	ENSP00000379690:A402T;ENSP00000445669:A402T|.	ENSP00000243639:A455T|ENSP00000377444:W202X	A|W	-|-	1|3	0|0	ZNF468|ZNF468	58035996|58035996	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.635000|0.635000	0.38103|0.38103	-0.891000|-0.891000	0.04135|0.04135	-0.772000|-0.772000	0.04602|0.04602	0.416000|0.416000	0.27883|0.27883	GCA|TGG		0.443	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801	
ZNF816	125893	broad.mit.edu	37	19	53453247	53453247	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53453247T>G	ENST00000357666.4	-	5	2081	c.1781A>C	c.(1780-1782)aAg>aCg	p.K594T	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.K594T|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K594T(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTCATTACACTTGTAAGGTTT	0.378																																					p.K594T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1781C	19						.						82.0	84.0	83.0					19																	53453247		2203	4300	6503	58145059	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.1781A>C	19.37:g.53453247T>G	ENSP00000350295:p.Lys594Thr		58145059	NM_001031665	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	9.621	1.133920	0.21123	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.35605	1.3;1.3	1.75	0.578	0.17391	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44393	0.1291	L	0.42581	1.335	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.22941	-1.0202	9	0.52906	T	0.07	.	3.6257	0.08112	0.2164:0.0:0.4375:0.3462	.	594	Q0VGE8	ZN816_HUMAN	T	594	ENSP00000350295:K594T;ENSP00000403266:K594T	ENSP00000350295:K594T	K	-	2	0	ZNF816	58145059	0.000000	0.05858	0.255000	0.24374	0.758000	0.43043	-1.292000	0.02772	-0.052000	0.13311	0.163000	0.16589	AAG		0.378	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
ZNF816	125893	broad.mit.edu	37	19	53454568	53454568	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53454568C>T	ENST00000357666.4	-	5	760	c.460G>A	c.(460-462)Gat>Aat	p.D154N	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.D154N|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	154					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.D154N(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CCAAGCTGATCTTTAATAGGC	0.413																																					p.D154N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	19						.						177.0	185.0	183.0					19																	53454568		2203	4300	6503	58146380	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.460G>A	19.37:g.53454568C>T	ENSP00000350295:p.Asp154Asn		58146380	NM_001031665	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	0.015	-1.553888	0.00918	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.04809	3.55;3.55	1.79	-3.57	0.04612	.	.	.	.	.	T	0.01489	0.0048	N	0.04090	-0.28	0.09310	N	1	B	0.22276	0.067	B	0.12837	0.008	T	0.42565	-0.9444	9	0.02654	T	1	.	3.0538	0.06177	0.0:0.3618:0.2463:0.3919	.	154	Q0VGE8	ZN816_HUMAN	N	154	ENSP00000350295:D154N;ENSP00000403266:D154N	ENSP00000350295:D154N	D	-	1	0	ZNF816	58146380	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.605000	0.05661	-1.268000	0.02439	-1.043000	0.02367	GAT		0.413	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
ZNF765	91661	broad.mit.edu	37	19	53911092	53911092	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:53911092A>G	ENST00000396408.3	+	4	401	c.284A>G	c.(283-285)cAt>cGt	p.H95R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	95					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.H95R(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AAAGATATTCATGACATTGAG	0.378																																					p.H95R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A284G	19						.						76.0	78.0	78.0					19																	53911092		2196	4295	6491	58602904	SO:0001583	missense	91661	exon4			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.284A>G	19.37:g.53911092A>G	ENSP00000379689:p.His95Arg		58602904	NM_001040185	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	A	3.228	-0.158130	0.06544	.	.	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.07327	3.2;3.96	1.21	-0.4	0.12411	.	.	.	.	.	T	0.08891	0.0220	M	0.62723	1.935	0.09310	N	1	B	0.20164	0.042	B	0.26614	0.071	T	0.37641	-0.9697	8	.	.	.	.	4.1534	0.10249	0.6976:0.0:0.0:0.3023	.	95	Q7L2R6	ZN765_HUMAN	R	95;42	ENSP00000379689:H95R;ENSP00000421579:H42R	.	H	+	2	0	ZNF765	58602904	0.000000	0.05858	0.002000	0.10522	0.102000	0.19082	0.442000	0.21628	0.523000	0.28482	0.147000	0.16070	CAT		0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372	
PRKCG	5582	broad.mit.edu	37	19	54401296	54401296	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:54401296G>A	ENST00000263431.3	+	10	1305	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	PRKCG_ENST00000542049.1_Silent_p.A228A|PRKCG_ENST00000536044.1_Missense_Mutation_p.R312Q|PRKCG_ENST00000540413.1_Silent_p.A341A	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	341					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.A341A(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)	TCTTCGGGGCGAGTCCAGGAC	0.602																																					p.A341A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1023A	19						.						55.0	54.0	54.0					19																	54401296		2203	4300	6503	59093108	SO:0001819	synonymous_variant	5582	exon10			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.1023G>A	19.37:g.54401296G>A			59093108	NM_002739	B7Z8Q0	Silent	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	7.741	0.701205	0.15172	.	.	ENSG00000126583	ENST00000536044	T	0.77620	-1.11	5.14	-10.3	0.00346	.	.	.	.	.	T	0.54143	0.1840	.	.	.	0.19300	N	0.999974	B	0.02656	0.0	B	0.01281	0.0	T	0.36065	-0.9763	8	0.33940	T	0.23	.	2.9402	0.05828	0.3068:0.1732:0.3872:0.1328	.	312	B7Z870	.	Q	312	ENSP00000440541:R312Q	ENSP00000440541:R312Q	R	+	2	0	PRKCG	59093108	0.114000	0.22134	0.003000	0.11579	0.497000	0.33675	0.236000	0.17967	-2.826000	0.00341	-2.706000	0.00135	CGA		0.602	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
RPS9	6203	broad.mit.edu	37	19	54710171	54710171	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:54710171G>A	ENST00000302907.4	+	4	420	c.248G>A	c.(247-249)cGc>cAc	p.R83H	RPS9_ENST00000391753.2_Missense_Mutation_p.R83H|RPS9_ENST00000391752.1_Missense_Mutation_p.R83H|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000402367.1_Missense_Mutation_p.R83H|RPS9_ENST00000441429.1_Missense_Mutation_p.R83H	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	83					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)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|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)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)	p.R83H(1)		NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	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;0.18)		CGGCTGGTCCGCATTGGGGTG	0.572																																					p.R83H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	19						.						36.0	37.0	36.0					19																	54710171		2203	4300	6503	59401983	SO:0001583	missense	6203	exon4			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.248G>A	19.37:g.54710171G>A	ENSP00000302896:p.Arg83His		59401983	NM_001013	A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055733	0.75960	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391753;ENST00000441429	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.49	4.49	0.54785	Ribosomal protein S4/S9, N-terminal (1);	0.224881	0.42053	D	0.000763	T	0.51041	0.1651	M	0.90483	3.12	0.80722	D	1	P;P;P	0.47191	0.891;0.772;0.623	B;B;B	0.31614	0.094;0.133;0.133	T	0.69548	-0.5116	10	0.72032	D	0.01	-14.9135	15.4747	0.75468	0.0:0.0:1.0:0.0	.	83;83;83	B5MCT8;C9JM19;P46781	.;.;RS9_HUMAN	H	83	ENSP00000302896:R83H;ENSP00000375632:R83H;ENSP00000383937:R83H;ENSP00000375633:R83H;ENSP00000414314:R83H	ENSP00000302896:R83H	R	+	2	0	RPS9	59401983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.125000	0.77193	2.428000	0.82296	0.655000	0.94253	CGC		0.572	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013	
LILRB5	10990	broad.mit.edu	37	19	54758726	54758726	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:54758726T>C	ENST00000316219.5	-	6	1234	c.1127A>G	c.(1126-1128)cAc>cGc	p.H376R	LILRB5_ENST00000345866.6_Missense_Mutation_p.H276R|LILRB5_ENST00000449561.2_Missense_Mutation_p.H376R|LILRB5_ENST00000450632.1_Missense_Mutation_p.H367R	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	376	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.H367R(1)|p.H376R(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCAGCCTGGTGTCTATAAGA	0.537																																					p.H376R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1127G	19						.						100.0	90.0	93.0					19																	54758726		2203	4300	6503	59450538	SO:0001583	missense	10990	exon6			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1127A>G	19.37:g.54758726T>C	ENSP00000320390:p.His376Arg		59450538	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	T	9.567	1.120057	0.20877	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.03004	4.08;4.08;4.08;4.08	3.08	-6.16	0.02098	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.480550	0.04560	N	0.391470	T	0.06050	0.0157	L	0.50333	1.59	0.09310	N	1	P;P;B;B;B	0.41643	0.758;0.473;0.34;0.435;0.087	P;P;B;B;B	0.48063	0.471;0.565;0.225;0.063;0.21	T	0.15954	-1.0419	10	0.62326	D	0.03	.	4.1847	0.10392	0.4131:0.0:0.3764:0.2104	.	367;267;276;376;376	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	R	376;367;376;276	ENSP00000320390:H376R;ENSP00000414225:H367R;ENSP00000406478:H376R;ENSP00000263430:H276R	ENSP00000320390:H376R	H	-	2	0	LILRB5	59450538	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.306000	0.00256	-1.851000	0.01168	0.467000	0.42956	CAC		0.537	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
RFX2	5990	broad.mit.edu	37	19	6016273	6016273	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:6016273G>A	ENST00000303657.5	-	7	756	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	RFX2_ENST00000359161.3_Silent_p.L203L|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.L178L	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L203L(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTATCCAACAGCCACTGGAGC	0.483																																					p.L203L	Colon(38;171 817 19800 47433 48051)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C607T	19						.						47.0	46.0	47.0					19																	6016273		2203	4300	6503	5967273	SO:0001819	synonymous_variant	5990	exon7				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.607C>T	19.37:g.6016273G>A			5967273	NM_000635	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	CCDS12157.1																																																																																				0.483	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635	
LILRB2	10288	broad.mit.edu	37	19	54784146	54784146	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:54784146G>T	ENST00000391749.4	-	3	314	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.L15M|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391746.1_Missense_Mutation_p.L15M|LILRB2_ENST00000314446.5_Missense_Mutation_p.L15M	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	15					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L15M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCCCAGACTCAGCCCT	0.652																																					p.L15M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C43A	19						.						80.0	85.0	83.0					19																	54784146		2203	4300	6503	59475958	SO:0001583	missense	10288	exon3			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.43C>A	19.37:g.54784146G>T	ENSP00000375629:p.Leu15Met		59475958	NM_001080978	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657608	0.47467	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.00578	6.5;6.5;6.52;6.44	2.24	-1.94	0.07571	.	0.795454	0.10608	N	0.654752	T	0.03651	0.0104	H	0.97783	4.075	0.09310	N	1	D;P;D	0.71674	0.996;0.948;0.998	D;P;D	0.68943	0.957;0.605;0.961	T	0.14868	-1.0457	10	0.66056	D	0.02	.	3.638	0.08157	0.2344:0.2344:0.5312:0.0	.	15;32;15	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	M	15	ENSP00000375628:L15M;ENSP00000319960:L15M;ENSP00000375629:L15M;ENSP00000375626:L15M	ENSP00000319960:L15M	L	-	1	2	LILRB2	59475958	0.000000	0.05858	0.009000	0.14445	0.714000	0.41099	0.027000	0.13621	-0.332000	0.08489	0.289000	0.19496	CTG		0.652	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
LILRB1	10859	broad.mit.edu	37	19	55143061	55143061	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:55143061T>C	ENST00000396331.1	+	5	538	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	LILRB1_ENST00000448689.1_Missense_Mutation_p.Y61H|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y61H|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y61H|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y61H|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y61H|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y97H|LILRB1_ENST00000418536.2_Missense_Mutation_p.Y61H|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y61H|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y61H|LILRB1_ENST00000324602.7_Missense_Mutation_p.Y61H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	61	Ig-like C2-type 1.				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.Y61H(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)		GTACCGTCTATATAGAGAAAA	0.572										HNSCC(37;0.09)																											p.Y61H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T181C	19						.						132.0	131.0	131.0					19																	55143061		2203	4300	6503	59834873	SO:0001583	missense	10859	exon4			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.181T>C	19.37:g.55143061T>C	ENSP00000379622:p.Tyr61His		59834873	NM_001081639	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	T	4.163	0.028807	0.08054	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	2.11	-2.2	0.06994	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.449330	0.04420	N	0.367452	T	0.14700	0.0355	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B	0.30709	0.291;0.003;0.026;0.021;0.013	B;B;B;B;B	0.33521	0.165;0.006;0.039;0.023;0.026	T	0.37009	-0.9724	10	0.17832	T	0.49	.	7.4329	0.27139	0.0:0.0:0.6636:0.3364	.	61;61;61;61;61	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	H	61;61;61;61;61;61;61;61;97;61;61	ENSP00000379614:Y61H;ENSP00000391514:Y61H;ENSP00000409968:Y61H;ENSP00000379622:Y61H;ENSP00000379618:Y61H;ENSP00000315997:Y61H;ENSP00000405243:Y61H;ENSP00000379623:Y61H;ENSP00000395004:Y97H;ENSP00000379610:Y61H;ENSP00000379608:Y61H	ENSP00000315997:Y61H	Y	+	1	0	LILRB1	59834873	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.951000	0.00327	-0.370000	0.08016	0.163000	0.16589	TAT		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
KIR2DL3	3804	broad.mit.edu	37	19	55255253	55255253	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:55255253G>T	ENST00000342376.3	+	4	412	c.381G>T	c.(379-381)gaG>gaT	p.E127D	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.E127D|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	127					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.E127D(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GTCTATATGAGAAACCTTCTC	0.547																																					p.E127D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G381T	19						.						63.0	74.0	70.0					19																	55255253		1246	2450	3696	59947065	SO:0001583	missense	3804	exon4			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.381G>T	19.37:g.55255253G>T	ENSP00000342215:p.Glu127Asp		59947065	NM_015868	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	G	6.779	0.512664	0.12944	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.00695	5.83;5.83	1.28	0.0196	0.14121	Immunoglobulin-like fold (2);	.	.	.	.	T	0.00784	0.0026	L	0.33792	1.035	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.08055	0.0;0.001;0.003;0.003	T	0.45542	-0.9254	9	0.87932	D	0	.	5.4185	0.16388	0.0:0.4601:0.5399:0.0	.	127;127;127;127	E3NZD7;P43627;P43628;E3NZD8	.;KI2L2_HUMAN;KI2L3_HUMAN;.	D	127	ENSP00000342215:E127D;ENSP00000415758:E127D	ENSP00000342215:E127D	E	+	3	2	KIR2DL3	59947065	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	-1.215000	0.02985	0.061000	0.16311	0.184000	0.17185	GAG		0.547	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1		
KIR3DL2	3812	broad.mit.edu	37	19	55365414	55365414	+	Missense_Mutation	SNP	G	G	T	rs199778243		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:55365414G>T	ENST00000326321.3	+	4	601	c.568G>T	c.(568-570)Gca>Tca	p.A190S	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.A190S|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	190	Ig-like C2-type 2.				cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A190S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCCTGTCCTTGCAGGAACCTA	0.557																																					p.A190S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G568T	19						.						7.0	7.0	7.0					19																	55365414		1792	3643	5435	60057226	SO:0001583	missense	3812	exon4			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.568G>T	19.37:g.55365414G>T	ENSP00000325525:p.Ala190Ser		60057226	NM_006737	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	g	12.90	2.077808	0.36662	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.02472	4.28;4.28	2.06	-2.79	0.05841	Immunoglobulin-like fold (1);	26.737700	0.01786	N	0.032005	T	0.10895	0.0266	M	0.66939	2.045	0.09310	N	1	D;D	0.65815	0.994;0.995	D;D	0.91635	0.992;0.999	T	0.34204	-0.9838	10	0.72032	D	0.01	.	2.5729	0.04799	0.1844:0.0:0.3221:0.4935	.	190;190	Q95366;P43630	.;KI3L2_HUMAN	S	190	ENSP00000325525:A190S;ENSP00000270442:A190S	ENSP00000270442:A190S	A	+	1	0	KIR3DL2	60057226	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.140000	0.16056	-0.213000	0.10094	0.195000	0.17529	GCA		0.557	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		
GP6	51206	broad.mit.edu	37	19	55526171	55526171	+	3'UTR	SNP	C	C	T	rs182940784		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:55526171C>T	ENST00000417454.1	-	0	1165				GP6_ENST00000333884.2_3'UTR|GP6_ENST00000310373.3_Missense_Mutation_p.R381Q|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R381Q(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AGCATGGCCTCGTTTCCACAG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		17719	0.001		0.0	False		,,,				2504	0.0				p.R381Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1142A	19						.						55.0	63.0	60.0					19																	55526171		2192	4282	6474	60217983	SO:0001624	3_prime_UTR_variant	51206	exon8			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*118G>A	19.37:g.55526171C>T			60217983	NM_001083899	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	CCDS46184.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.16	1.556017	0.27827	.	.	ENSG00000088053	ENST00000310373	T	0.00560	6.6	2.43	0.209	0.15226	.	.	.	.	.	T	0.00440	0.0014	.	.	.	0.09310	N	0.999994	B	0.29432	0.244	B	0.27500	0.08	T	0.45804	-0.9236	8	0.87932	D	0	.	4.6592	0.12634	0.0:0.6757:0.0:0.3243	.	381	Q9HCN6-3	.	Q	381	ENSP00000308782:R381Q	ENSP00000308782:R381Q	R	-	2	0	GP6	60217983	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.714000	0.25808	0.120000	0.18254	0.561000	0.74099	CGA		0.602	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1		
ZNF581	51545	broad.mit.edu	37	19	56156226	56156226	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56156226G>A	ENST00000587252.1	+	2	562	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ZNF581_ENST00000588537.1_Missense_Mutation_p.E97K|ZNF581_ENST00000270451.5_Missense_Mutation_p.E97K			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	97					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.E97K(1)		large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAGGGTCTTCGAGTACATGTC	0.592																																					p.E97K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289A	19						.						72.0	66.0	68.0					19																	56156226		2203	4300	6503	60848038	SO:0001583	missense	51545	exon2			AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"""Zinc fingers, C2H2-type"""	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.289G>A	19.37:g.56156226G>A	ENSP00000466047:p.Glu97Lys		60848038	NM_016535	B2RDM6	Missense_Mutation	SNP	ENST00000587252.1	37	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906232	0.33628	.	.	ENSG00000171425	ENST00000270451	T	0.07216	3.21	4.27	0.812	0.18744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	N	0.00707	-1.245	0.09310	N	0.999991	P	0.42456	0.78	B	0.32724	0.151	T	0.42430	-0.9452	9	0.59425	D	0.04	.	8.8732	0.35330	0.2633:0.0:0.7367:0.0	.	97	Q9P0T4	ZN581_HUMAN	K	97	ENSP00000270451:E97K	ENSP00000270451:E97K	E	+	1	0	ZNF581	60848038	0.001000	0.12720	0.014000	0.15608	0.883000	0.51084	0.174000	0.16743	0.172000	0.19760	0.407000	0.27541	GAG		0.592	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	NM_016535	
NLRP9	338321	broad.mit.edu	37	19	56244308	56244308	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56244308C>A	ENST00000332836.2	-	2	916	c.889G>T	c.(889-891)Gga>Tga	p.G297*		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	297	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G297*(1)		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)		TCACTGAATCCTAAGAGCTTT	0.393																																					p.G297X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G889T	19						.						55.0	55.0	55.0					19																	56244308		2203	4300	6503	60936120	SO:0001587	stop_gained	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.889G>T	19.37:g.56244308C>A	ENSP00000331857:p.Gly297*		60936120	NM_176820	B2RN12|Q86W27	Nonsense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515552	0.64634	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	.	.	.	2.46	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.1736	0.37098	0.0:0.7741:0.2259:0.0	.	.	.	.	X	297	.	ENSP00000331857:G297X	G	-	1	0	NLRP9	60936120	0.687000	0.27671	0.001000	0.08648	0.001000	0.01503	3.218000	0.51192	0.605000	0.29947	0.644000	0.83932	GGA		0.393	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
NLRP11	204801	broad.mit.edu	37	19	56297091	56297091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56297091G>T	ENST00000589093.1	-	10	3095	c.3002C>A	c.(3001-3003)tCa>tAa	p.S1001*	NLRP11_ENST00000443188.1_Nonsense_Mutation_p.S1001*|NLRP11_ENST00000589824.2_Nonsense_Mutation_p.S947*|NLRP11_ENST00000592953.1_Nonsense_Mutation_p.S902*|NLRP11_ENST00000360133.3_Nonsense_Mutation_p.S947*			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1001							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.S1001*(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)		AGGTATTATTGAACCTGGCTG	0.393																																					p.S1001X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3002A	19						.						98.0	96.0	97.0					19																	56297091		2203	4300	6503	60988903	SO:0001587	stop_gained	204801	exon12			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.3002C>A	19.37:g.56297091G>T	ENSP00000466285:p.Ser1001*		60988903	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Nonsense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	41	8.538019	0.98854	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	.	.	.	1.4	-1.12	0.09808	.	.	.	.	.	.	.	.	.	.	.	0.37982	D	0.933628	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	2.008	0.03481	0.2165:0.0:0.4722:0.3113	.	.	.	.	X	1001;947	.	ENSP00000353251:S947X	S	-	2	0	NLRP11	60988903	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.006000	0.13152	-0.240000	0.09696	0.655000	0.94253	TCA		0.393	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP11	204801	broad.mit.edu	37	19	56320903	56320903	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56320903T>C	ENST00000589093.1	-	3	1166	c.1073A>G	c.(1072-1074)gAc>gGc	p.D358G	NLRP11_ENST00000443188.1_Missense_Mutation_p.D358G|NLRP11_ENST00000589824.2_Missense_Mutation_p.D358G|NLRP11_ENST00000592953.1_Missense_Mutation_p.D259G|NLRP11_ENST00000360133.3_Missense_Mutation_p.D358G			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	358	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						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.D358G(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)		GAGCTGGAAGTCACGCCCCTT	0.517																																					p.D358G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1073G	19						.						95.0	83.0	87.0					19																	56320903		2203	4300	6503	61012715	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.1073A>G	19.37:g.56320903T>C	ENSP00000466285:p.Asp358Gly		61012715	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.158350	0.38119	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.75821	-0.97;-0.91	2.48	2.48	0.30137	.	.	.	.	.	T	0.80270	0.4592	L	0.55481	1.735	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.969;0.986	T	0.65747	-0.6093	9	0.66056	D	0.02	.	6.8593	0.24058	0.0:0.0:0.0:1.0	.	358;358	P59045;P59045-2	NAL11_HUMAN;.	G	358	ENSP00000409898:D358G;ENSP00000353251:D358G	ENSP00000353251:D358G	D	-	2	0	NLRP11	61012715	0.002000	0.14202	0.003000	0.11579	0.001000	0.01503	0.433000	0.21477	1.389000	0.46526	0.533000	0.62120	GAC		0.517	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP4	147945	broad.mit.edu	37	19	56369356	56369356	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56369356G>A	ENST00000301295.6	+	3	1019	c.597G>A	c.(595-597)acG>acA	p.T199T	NLRP4_ENST00000346986.5_Silent_p.T199T|NLRP4_ENST00000587891.1_Silent_p.T124T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	199	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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.T199T(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)		TGCCGCCAACGAGTTTGGCTG	0.517																																					p.T199T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G597A	19						.						98.0	99.0	99.0					19																	56369356		2203	4300	6503	61061168	SO:0001819	synonymous_variant	147945	exon3			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.597G>A	19.37:g.56369356G>A			61061168	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																				0.517	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP13	126204	broad.mit.edu	37	19	56423175	56423175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56423175C>A	ENST00000342929.3	-	5	2007	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.E670*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	670							ATP binding (GO:0005524)	p.E670*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTTGGAGTTCTTCGTCCTCC	0.408																																					p.E670X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2008T	19						.						95.0	97.0	96.0					19																	56423175		2203	4300	6503	61114987	SO:0001587	stop_gained	126204	exon5			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2008G>T	19.37:g.56423175C>A	ENSP00000343891:p.Glu670*		61114987	NM_176810	Q7RTR5	Nonsense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232594	0.79688	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.37	-0.466	0.12153	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	3.4864	0.07620	0.2277:0.4096:0.3627:0.0	.	.	.	.	X	670	.	ENSP00000343891:E670X	E	-	1	0	NLRP13	61114987	0.000000	0.05858	0.002000	0.10522	0.139000	0.21198	0.071000	0.14594	0.289000	0.22422	0.543000	0.68304	GAA		0.408	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
NLRP8	126205	broad.mit.edu	37	19	56482062	56482062	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56482062C>T	ENST00000291971.3	+	6	2605	c.2534C>T	c.(2533-2535)tCg>tTg	p.S845L	NLRP8_ENST00000590542.1_Splice_Site_p.S845L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	845					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S845L(2)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGAGGCTGTCGTAAGTCTCC	0.473																																					p.S845L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2534T	19						.						102.0	110.0	107.0					19																	56482062		2203	4300	6503	61173874	SO:0001630	splice_region_variant	126205	exon6			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.2534+1C>T	19.37:g.56482062C>T			61173874	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	5.355	0.250720	0.10130	.	.	ENSG00000179709	ENST00000291971	T	0.53640	0.61	1.8	-0.41	0.12374	.	.	.	.	.	T	0.17577	0.0422	N	0.10707	0.03	0.09310	N	1	B;B	0.28419	0.211;0.027	B;B	0.21546	0.035;0.009	T	0.24048	-1.0171	9	0.02654	T	1	.	3.9952	0.09554	0.0:0.5822:0.0:0.4178	.	845;845	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	845	ENSP00000291971:S845L	ENSP00000291971:S845L	S	+	2	0	NLRP8	61173874	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.984000	0.03755	-0.047000	0.13423	0.411000	0.27672	TCG		0.473	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	Missense_Mutation
NLRP5	126206	broad.mit.edu	37	19	56515189	56515189	+	Missense_Mutation	SNP	C	C	T	rs369349527		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56515189C>T	ENST00000390649.3	+	2	170	c.170C>T	c.(169-171)tCg>tTg	p.S57L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	57	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.S57L(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)		GGAGACAAATCGCTCACCTTT	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21311	0.0		0.0	False		,,,				2504	0.0				p.S57L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170T	19						.	C	LEU/SER	1,3729		0,1,1864	120.0	112.0	115.0		170	-3.6	0.0	19		115	0,8212		0,0,4106	no	missense	NLRP5	NM_153447.4	145	0,1,5970	TT,TC,CC		0.0,0.0268,0.0084	benign	57/1201	56515189	1,11941	1865	4106	5971	61207001	SO:0001583	missense	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.170C>T	19.37:g.56515189C>T	ENSP00000375063:p.Ser57Leu		61207001	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	0.479	-0.880588	0.02530	2.68E-4	0.0	ENSG00000171487	ENST00000390649	T	0.70516	-0.49	3.15	-3.64	0.04515	DEATH-like (1);	.	.	.	.	T	0.40767	0.1130	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	9	0.12766	T	0.61	.	5.3365	0.15961	0.0:0.4589:0.1795:0.3616	.	57	P59047	NALP5_HUMAN	L	57	ENSP00000375063:S57L	ENSP00000375063:S57L	S	+	2	0	NLRP5	61207001	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.543000	0.02194	-0.885000	0.03971	-1.034000	0.02401	TCG		0.423	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ACSBG2	81616	broad.mit.edu	37	19	6183180	6183180	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:6183180G>A	ENST00000586696.1	+	10	1495	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.E220K|ACSBG2_ENST00000588304.1_Missense_Mutation_p.E357K|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E407K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E407K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	407					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.E407K(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						AGAGACTGCCGAGTTCTTTCT	0.498																																					p.E407K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1219A	19						.						90.0	86.0	87.0					19																	6183180		2203	4300	6503	6134180	SO:0001583	missense	81616	exon10				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.1219G>A	19.37:g.6183180G>A	ENSP00000465589:p.Glu407Lys		6134180	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561824	0.27915	.	.	ENSG00000130377	ENST00000252669	T	0.42900	0.96	5.04	3.99	0.46301	AMP-dependent synthetase/ligase (1);	0.188247	0.26122	N	0.026220	T	0.41949	0.1181	L	0.42581	1.335	0.80722	D	1	P;D	0.56746	0.796;0.977	B;P	0.51777	0.252;0.679	T	0.22277	-1.0221	10	0.07813	T	0.8	-47.2855	14.0545	0.64759	0.0:0.1525:0.8475:0.0	.	407;407	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	K	407	ENSP00000252669:E407K	ENSP00000252669:E407K	E	+	1	0	ACSBG2	6134180	1.000000	0.71417	0.791000	0.31998	0.192000	0.23643	4.234000	0.58658	1.080000	0.41073	0.650000	0.86243	GAG		0.498	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
NLRP5	126206	broad.mit.edu	37	19	56538774	56538774	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56538774G>A	ENST00000390649.3	+	7	1175	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	392	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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.R392H(2)		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)		ACCCTCATACGCAGTCTGCTG	0.552																																					p.R392H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1175A	19						.						48.0	48.0	48.0					19																	56538774		2094	4212	6306	61230586	SO:0001583	missense	126206	exon7			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.1175G>A	19.37:g.56538774G>A	ENSP00000375063:p.Arg392His		61230586	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	0.938	-0.710348	0.03230	.	.	ENSG00000171487	ENST00000390649	D	0.81499	-1.5	3.35	-6.71	0.01760	NACHT nucleoside triphosphatase (1);	1.995850	0.02586	N	0.099441	T	0.55065	0.1897	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.56685	-0.7938	10	0.15066	T	0.55	.	16.8368	0.85958	0.1869:0.0:0.8131:0.0	.	392	P59047	NALP5_HUMAN	H	392	ENSP00000375063:R392H	ENSP00000375063:R392H	R	+	2	0	NLRP5	61230586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.310000	0.00517	-2.159000	0.00787	-1.708000	0.00717	CGC		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF582	147948	broad.mit.edu	37	19	56895550	56895550	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56895550T>C	ENST00000301310.4	-	5	1394	c.1236A>G	c.(1234-1236)gtA>gtG	p.V412V	ZNF582_ENST00000586929.1_Silent_p.V412V	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	412					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.V412V(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)		TTCTGTAATGTACAGTAAGAT	0.408																																					p.V412V	Ovarian(183;1887 2032 4349 30507 51343)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1236G	19						.						109.0	106.0	107.0					19																	56895550		2203	4300	6503	61587362	SO:0001819	synonymous_variant	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.1236A>G	19.37:g.56895550T>C			61587362	NM_144690	B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	ENST00000301310.4	37	CCDS33121.1																																																																																				0.408	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
ZNF667	63934	broad.mit.edu	37	19	56952782	56952782	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:56952782T>C	ENST00000504904.3	-	7	2301	c.1582A>G	c.(1582-1584)Aca>Gca	p.T528A	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.T528A|ZNF667_ENST00000342634.3_Missense_Mutation_p.T656A			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	528					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.T528A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTTTTGCATGTATATGGCTTC	0.438																																					p.T528A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1582G	19						.						97.0	79.0	85.0					19																	56952782		2203	4300	6503	61644594	SO:0001583	missense	63934	exon5				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1582A>G	19.37:g.56952782T>C	ENSP00000439402:p.Thr528Ala		61644594	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	T	3.876	-0.026969	0.07589	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.35605	1.3;1.3;1.3	4.66	0.0319	0.14173	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.602496	0.13847	N	0.358585	T	0.19046	0.0457	N	0.12502	0.225	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.007	T	0.18903	-1.0322	10	0.44086	T	0.13	-6.5528	8.3906	0.32526	0.0:0.3755:0.0:0.6245	.	656;528	E7EPS0;Q5HYK9	.;ZN667_HUMAN	A	656;528;528;310;243	ENSP00000344699:T656A;ENSP00000439402:T528A;ENSP00000292069:T528A	ENSP00000292069:T528A	T	-	1	0	ZNF667	61644594	0.000000	0.05858	0.001000	0.08648	0.155000	0.21991	-2.314000	0.01125	0.006000	0.14734	0.533000	0.62120	ACA		0.438	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZNF471	57573	broad.mit.edu	37	19	57035890	57035890	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57035890A>G	ENST00000308031.5	+	5	587	c.454A>G	c.(454-456)Acc>Gcc	p.T152A	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	152					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.T152A(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)		TCATAAAGAAACCATCACTAA	0.313																																					p.T152A	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A454G	19						.						53.0	53.0	53.0					19																	57035890		2203	4300	6503	61727702	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.454A>G	19.37:g.57035890A>G	ENSP00000309161:p.Thr152Ala		61727702	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	8.868	0.948557	0.18356	.	.	ENSG00000196263	ENST00000308031	T	0.05513	3.43	4.1	-0.781	0.10965	.	.	.	.	.	T	0.06600	0.0169	L	0.53249	1.67	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.35574	-0.9783	9	0.41790	T	0.15	.	5.5246	0.16951	0.5382:0.1436:0.3183:0.0	.	152	Q9BX82	ZN471_HUMAN	A	152	ENSP00000309161:T152A	ENSP00000309161:T152A	T	+	1	0	ZNF471	61727702	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	0.991000	0.29654	-0.023000	0.13963	0.460000	0.39030	ACC		0.313	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZNF471	57573	broad.mit.edu	37	19	57036804	57036804	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57036804G>T	ENST00000308031.5	+	5	1501	c.1368G>T	c.(1366-1368)gaG>gaT	p.E456D	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	456					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.E456E(1)|p.E456D(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)		ATTCTGGAGAGAAACCGTATG	0.383																																					p.E456D	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1368T	19						.						91.0	88.0	89.0					19																	57036804		2203	4300	6503	61728616	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.1368G>T	19.37:g.57036804G>T	ENSP00000309161:p.Glu456Asp		61728616	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273614	0.59649	.	.	ENSG00000196263	ENST00000308031	T	0.26810	1.71	3.66	-1.33	0.09172	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30727	0.0774	L	0.37630	1.12	0.80722	D	1	D	0.60575	0.988	D	0.70935	0.971	T	0.35101	-0.9802	9	0.66056	D	0.02	.	3.7951	0.08736	0.2895:0.0:0.4417:0.2688	.	456	Q9BX82	ZN471_HUMAN	D	456	ENSP00000309161:E456D	ENSP00000309161:E456D	E	+	3	2	ZNF471	61728616	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.303000	0.43646	0.233000	0.21120	0.462000	0.41574	GAG		0.383	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZFP28	140612	broad.mit.edu	37	19	57065210	57065210	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57065210T>C	ENST00000301318.3	+	8	1127	c.1056T>C	c.(1054-1056)ggT>ggC	p.G352G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	352					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.G352G(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)		TTGCAGTAGGTCAAGAGACAC	0.393																																					p.G352G	Ovarian(124;554 1662 19430 21141 52494)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1056C	19						.						93.0	85.0	88.0					19																	57065210		2203	4300	6503	61757022	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.1056T>C	19.37:g.57065210T>C			61757022	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	CCDS12946.1																																																																																				0.393	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZIM2	23619	broad.mit.edu	37	19	57286541	57286541	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57286541G>T	ENST00000391708.3	-	12	1641	c.1099C>A	c.(1099-1101)Ctc>Atc	p.L367I	ZIM2_ENST00000593711.1_Missense_Mutation_p.L367I|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.L367I|ZIM2_ENST00000221722.5_Missense_Mutation_p.L367I|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.L367I|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	367					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.L367I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGTGGCATGAGATAGAAGGCT	0.478																																					p.L367I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099A	19						.						130.0	113.0	119.0					19																	57286541		2203	4300	6503	61978353	SO:0001583	missense	23619	exon12			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1099C>A	19.37:g.57286541G>T	ENSP00000375589:p.Leu367Ile		61978353	NM_001146326	Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.474062	0.26423	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.15487	2.42;2.42	4.63	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15435	0.0372	L	0.35542	1.07	.	.	.	D	0.59767	0.986	P	0.48873	0.593	T	0.11299	-1.0593	8	0.25751	T	0.34	.	6.8714	0.24123	0.0941:0.1756:0.7303:0.0	.	367	Q9NZV7	ZIM2_HUMAN	I	367	ENSP00000375589:L367I;ENSP00000221722:L367I	ENSP00000221722:L367I	L	-	1	0	ZIM2	61978353	0.000000	0.05858	0.021000	0.16686	0.968000	0.65278	0.267000	0.18552	1.320000	0.45209	0.655000	0.94253	CTC		0.478	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		
ZIM2	23619	broad.mit.edu	37	19	57286694	57286694	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57286694T>C	ENST00000391708.3	-	12	1488	c.946A>G	c.(946-948)Acg>Gcg	p.T316A	ZIM2_ENST00000593711.1_Missense_Mutation_p.T316A|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.T316A|ZIM2_ENST00000221722.5_Missense_Mutation_p.T316A|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.T316A|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	316					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.T316A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGGGGACTCGTACATATTCCA	0.448																																					p.T316A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A946G	19						.						135.0	125.0	129.0					19																	57286694		2203	4300	6503	61978506	SO:0001583	missense	23619	exon12			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.946A>G	19.37:g.57286694T>C	ENSP00000375589:p.Thr316Ala		61978506	NM_001146326	Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	T	4.457	0.084711	0.08583	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04502	3.61;3.61	3.55	1.44	0.22558	.	.	.	.	.	T	0.03477	0.0100	N	0.24115	0.695	.	.	.	B	0.17038	0.02	B	0.12837	0.008	T	0.30268	-0.9984	8	0.72032	D	0.01	.	3.8892	0.09111	0.0:0.1157:0.2166:0.6677	.	316	Q9NZV7	ZIM2_HUMAN	A	316	ENSP00000375589:T316A;ENSP00000221722:T316A	ENSP00000221722:T316A	T	-	1	0	ZIM2	61978506	.	.	0.001000	0.08648	0.008000	0.06430	.	.	0.228000	0.21019	-0.411000	0.06167	ACG		0.448	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		
PEG3	5178	broad.mit.edu	37	19	57327195	57327195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57327195C>T	ENST00000326441.9	-	10	2978	c.2615G>A	c.(2614-2616)cGa>cAa	p.R872Q	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R872Q|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R748Q|PEG3_ENST00000593695.1_Missense_Mutation_p.R746Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	872					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R872Q(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATCTTCTGTCGCTTATCATT	0.443																																					p.R872Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2615A	19						.						93.0	91.0	91.0					19																	57327195		2203	4300	6503	62019007	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2615G>A	19.37:g.57327195C>T	ENSP00000326581:p.Arg872Gln		62019007	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096351	0.20552	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02236	4.38;4.38	4.0	-4.09	0.03951	.	0.893224	0.09322	N	0.818152	T	0.00936	0.0031	N	0.03115	-0.41	.	.	.	B;B;B	0.17852	0.002;0.006;0.024	B;B;B	0.06405	0.001;0.001;0.002	T	0.46359	-0.9197	9	0.44086	T	0.13	-0.3676	1.5487	0.02570	0.1306:0.1442:0.2812:0.4441	.	748;872;807	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Q	872	ENSP00000326581:R872Q;ENSP00000403051:R872Q	ENSP00000326581:R872Q	R	-	2	0	ZIM2	62019007	0.000000	0.05858	0.000000	0.03702	0.624000	0.37722	0.135000	0.15952	-0.724000	0.04908	-0.218000	0.12543	CGA		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
USP29	57663	broad.mit.edu	37	19	57640117	57640117	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57640117C>T	ENST00000254181.4	+	4	528	c.74C>T	c.(73-75)gCt>gTt	p.A25V	USP29_ENST00000598197.1_Missense_Mutation_p.A25V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	25					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.A25V(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)		CTGAAAGAAGCTCTCATTGAA	0.348																																					p.A25V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C74T	19						.						51.0	51.0	51.0					19																	57640117		2203	4300	6503	62331929	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.74C>T	19.37:g.57640117C>T	ENSP00000254181:p.Ala25Val		62331929	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290489	0.40494	.	.	ENSG00000131864	ENST00000254181	T	0.53423	0.62	2.79	1.75	0.24633	.	0.252123	0.20806	U	0.085322	T	0.29524	0.0736	L	0.33485	1.01	0.09310	N	1	P	0.35192	0.489	B	0.29942	0.109	T	0.15235	-1.0444	10	0.52906	T	0.07	-4.1565	5.7481	0.18132	0.0:0.8488:0.0:0.1512	.	25	Q9HBJ7	UBP29_HUMAN	V	25	ENSP00000254181:A25V	ENSP00000254181:A25V	A	+	2	0	USP29	62331929	0.363000	0.24989	0.014000	0.15608	0.654000	0.38779	0.482000	0.22276	0.712000	0.32039	0.591000	0.81541	GCT		0.348	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
ZIM3	114026	broad.mit.edu	37	19	57647184	57647184	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57647184T>G	ENST00000269834.1	-	5	906	c.521A>C	c.(520-522)aAg>aCg	p.K174T	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K174T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTGAATAACTTTCTACAGGC	0.393																																					p.K174T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521C	19						.						148.0	143.0	145.0					19																	57647184		2203	4300	6503	62338996	SO:0001583	missense	114026	exon5			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.521A>C	19.37:g.57647184T>G	ENSP00000269834:p.Lys174Thr		62338996	NM_052882	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352678	0.24512	.	.	ENSG00000141946	ENST00000269834	T	0.39406	1.08	1.64	0.544	0.17185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44993	0.1320	L	0.34521	1.04	0.22896	N	0.998595	D	0.89917	1.0	D	0.75020	0.985	T	0.26503	-1.0101	9	0.87932	D	0	.	2.5829	0.04823	0.2353:0.1535:0.0:0.6111	.	174	Q96PE6	ZIM3_HUMAN	T	174	ENSP00000269834:K174T	ENSP00000269834:K174T	K	-	2	0	ZIM3	62338996	0.989000	0.36119	0.009000	0.14445	0.012000	0.07955	3.690000	0.54713	0.090000	0.17273	0.260000	0.18958	AAG		0.393	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
AURKC	6795	broad.mit.edu	37	19	57746628	57746628	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57746628T>G	ENST00000302804.7	+	7	959	c.773T>G	c.(772-774)tTt>tGt	p.F258C	AURKC_ENST00000415300.2_Missense_Mutation_p.F239C|AURKC_ENST00000448930.1_Missense_Mutation_p.F224C|AURKC_ENST00000598785.1_Missense_Mutation_p.F224C|AURKC_ENST00000599062.1_Missense_Mutation_p.F255C	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.F224C(1)|p.F258C(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		GATGTGAGGTTTCCACTATCA	0.517																																					p.F224C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T671G	19						.						73.0	77.0	76.0					19																	57746628		2203	4300	6503	62438440	SO:0001583	missense	6795	exon7				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.773T>G	19.37:g.57746628T>G	ENSP00000302898:p.Phe258Cys		62438440	NM_003160	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.318775	0.41096	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.09073	3.02;3.02;3.02	3.88	3.88	0.44766	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	0.21718	0.0523	M	0.72894	2.215	0.51233	D	0.999919	D;P;P	0.56521	0.976;0.936;0.939	P;P;P	0.59012	0.85;0.781;0.575	T	0.00701	-1.1603	10	0.72032	D	0.01	-23.4712	11.3437	0.49548	0.0:0.0:0.0:1.0	.	255;258;239	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	C	239;224;258	ENSP00000407162:F239C;ENSP00000406798:F224C;ENSP00000302898:F258C	ENSP00000302898:F258C	F	+	2	0	AURKC	62438440	0.995000	0.38212	0.076000	0.20297	0.130000	0.20726	1.553000	0.36255	1.997000	0.58415	0.533000	0.62120	TTT		0.517	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	
ZNF304	57343	broad.mit.edu	37	19	57863043	57863043	+	Missense_Mutation	SNP	C	C	T	rs138880208		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:57863043C>T	ENST00000282286.5	+	1	184	c.11C>T	c.(10-12)gCg>gTg	p.A4V	ZNF304_ENST00000391705.3_Missense_Mutation_p.A4V|ZNF304_ENST00000443917.2_Missense_Mutation_p.A4V|CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000598744.1_5'UTR			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	4					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.A4V(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)		ATGGCAGCGGCGGTGCTGATG	0.652																																					p.A4V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11T	19						.						96.0	76.0	83.0					19																	57863043		2203	4300	6503	62554855	SO:0001583	missense	57343	exon1			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.11C>T	19.37:g.57863043C>T	ENSP00000282286:p.Ala4Val		62554855	NM_020657		Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438028	0.43326	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.07688	3.18;3.18;3.17	2.23	2.23	0.28157	.	.	.	.	.	T	0.06371	0.0164	L	0.41415	1.275	0.09310	N	1	P;P	0.38020	0.472;0.615	B;B	0.32211	0.1;0.142	T	0.30909	-0.9962	9	0.27785	T	0.31	.	8.0534	0.30591	0.0:1.0:0.0:0.0	.	4;4	Q9HCX3;E7EQD3	ZN304_HUMAN;.	V	4	ENSP00000282286:A4V;ENSP00000375586:A4V;ENSP00000401642:A4V	ENSP00000282286:A4V	A	+	2	0	ZNF304	62554855	0.000000	0.05858	0.004000	0.12327	0.371000	0.29859	-0.006000	0.12833	1.562000	0.49601	0.609000	0.83330	GCG		0.652	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		
ZNF773	374928	broad.mit.edu	37	19	58018736	58018736	+	Missense_Mutation	SNP	C	C	T	rs149188572		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58018736C>T	ENST00000282292.4	+	4	1413	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	ZNF773_ENST00000598770.1_Missense_Mutation_p.R424C|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	425					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.R425C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		GAAATTTTTTCGCCACAGCTC	0.423																																					p.R425C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1273T	19						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	71.0	70.0		1273	-0.2	0.3	19	dbSNP_134	70	0,8600		0,0,4300	no	missense	ZNF773	NM_198542.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	425/443	58018736	1,13005	2203	4300	6503	62710548	SO:0001583	missense	374928	exon4			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1273C>T	19.37:g.58018736C>T	ENSP00000282292:p.Arg425Cys		62710548	NM_198542	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757609	0.31137	2.27E-4	0.0	ENSG00000152439	ENST00000282292	T	0.07444	3.19	1.03	-0.197	0.13228	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10208	0.0250	L	0.52206	1.635	0.20403	N	0.9999	D;D	0.59767	0.986;0.986	P;P	0.47206	0.493;0.541	T	0.22556	-1.0213	9	0.54805	T	0.06	.	6.4403	0.21847	0.6843:0.3156:0.0:0.0	.	424;425	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	C	425	ENSP00000282292:R425C	ENSP00000282292:R425C	R	+	1	0	ZNF773	62710548	0.000000	0.05858	0.314000	0.25224	0.968000	0.65278	-5.108000	0.00150	-0.028000	0.13850	0.305000	0.20034	CGC		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542	
ZNF530	348327	broad.mit.edu	37	19	58118429	58118429	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58118429T>G	ENST00000332854.6	+	3	1756	c.1536T>G	c.(1534-1536)gtT>gtG	p.V512V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	512					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.V512V(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)		ACCAGACTGTTCACACTAATG	0.468																																					p.V512V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1536G	19						.						81.0	72.0	75.0					19																	58118429		2203	4300	6503	62810241	SO:0001819	synonymous_variant	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.1536T>G	19.37:g.58118429T>G			62810241	NM_020880	O43340|Q9P220	Silent	SNP	ENST00000332854.6	37	CCDS12955.1																																																																																				0.468	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880	
ZSCAN4	201516	broad.mit.edu	37	19	58187763	58187763	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58187763A>G	ENST00000318203.5	+	3	947	c.250A>G	c.(250-252)Att>Gtt	p.I84V		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	84	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I84V(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGATGAAATTATTTCTCTATT	0.403																																					p.I84V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A250G	19						.						87.0	84.0	85.0					19																	58187763		2203	4300	6503	62879575	SO:0001583	missense	201516	exon3			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.250A>G	19.37:g.58187763A>G	ENSP00000321963:p.Ile84Val		62879575	NM_152677	Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376130	0.82682	.	.	ENSG00000180532	ENST00000318203	T	0.04194	3.68	4.95	3.87	0.44632	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.000000	0.50627	D	0.000114	T	0.13628	0.0330	L	0.53617	1.68	0.09310	N	1	D	0.71674	0.998	D	0.81914	0.995	T	0.01956	-1.1240	10	0.49607	T	0.09	-35.0483	8.3519	0.32307	0.8004:0.1996:0.0:0.0	.	84	Q8NAM6	ZSCA4_HUMAN	V	84	ENSP00000321963:I84V	ENSP00000321963:I84V	I	+	1	0	ZSCAN4	62879575	0.477000	0.25909	0.265000	0.24526	0.977000	0.68977	1.465000	0.35299	2.216000	0.71823	0.533000	0.62120	ATT		0.403	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677	
ZNF776	284309	broad.mit.edu	37	19	58265928	58265928	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58265928G>A	ENST00000317178.5	+	3	1693	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	477					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)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGTCTCATTCGACATCAGCAG	0.448																																					p.R477Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1430A	19						.						126.0	109.0	115.0					19																	58265928		2203	4300	6503	62957740	SO:0001583	missense	284309	exon3			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1430G>A	19.37:g.58265928G>A	ENSP00000321812:p.Arg477Gln		62957740	NM_173632	Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	2.305	-0.359272	0.05138	.	.	ENSG00000152443	ENST00000317178	T	0.26223	1.75	1.86	-3.72	0.04411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.31120	0.905	0.09310	N	1	B;P	0.40875	0.341;0.731	B;B	0.28916	0.032;0.096	T	0.39961	-0.9588	9	0.02654	T	1	.	0.6756	0.00866	0.3778:0.1238:0.1443:0.3541	.	477;477	Q68DI1;B4DSC6	ZN776_HUMAN;.	Q	477	ENSP00000321812:R477Q	ENSP00000321812:R477Q	R	+	2	0	ZNF776	62957740	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	-3.815000	0.00359	-1.957000	0.01021	0.313000	0.20887	CGA		0.448	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632	
ZNF552	79818	broad.mit.edu	37	19	58319776	58319776	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58319776G>A	ENST00000391701.1	-	3	1025	c.856C>T	c.(856-858)Cac>Tac	p.H286Y	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	286				H -> R (in Ref. 3; BAB15093). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H286Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		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;0.0259)		ATTCTCTGGTGTACAAGGAGG	0.418																																					p.H286Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C856T	19						.						66.0	60.0	62.0					19																	58319776		2203	4300	6503	63011588	SO:0001583	missense	79818	exon3			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.856C>T	19.37:g.58319776G>A	ENSP00000375582:p.His286Tyr		63011588	NM_024762	B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033218	0.54896	.	.	ENSG00000178935	ENST00000391701	D	0.86769	-2.17	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94729	0.8299	H	0.96111	3.77	0.29211	N	0.874606	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	D	0.87951	0.2723	9	0.87932	D	0	.	9.0241	0.36218	0.0:0.0:1.0:0.0	.	282;286	B7Z1H1;Q9H707	.;ZN552_HUMAN	Y	286	ENSP00000375582:H286Y	ENSP00000375582:H286Y	H	-	1	0	ZNF552	63011588	1.000000	0.71417	0.006000	0.13384	0.199000	0.23934	7.849000	0.86908	0.941000	0.37499	0.205000	0.17691	CAC		0.418	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762	
ZNF418	147686	broad.mit.edu	37	19	58437969	58437969	+	Missense_Mutation	SNP	C	C	T	rs535839531	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58437969C>T	ENST00000396147.1	-	4	1871	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q	ZNF418_ENST00000425570.3_Missense_Mutation_p.R548Q|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.R527Q|ZNF418_ENST00000599852.1_Missense_Mutation_p.R442Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	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.R527Q(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCCGATGTCGAAGGAGGGA	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		23250	0.002		0.0	False		,,,				2504	0.0				p.R527Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1580A	19						.						96.0	99.0	98.0					19																	58437969		2188	4294	6482	63129781	SO:0001583	missense	147686	exon4			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1580G>A	19.37:g.58437969C>T	ENSP00000379451:p.Arg527Gln		63129781	NM_133460	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	2.280	-0.364946	0.05103	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.26223	1.75;1.75	2.41	-4.82	0.03171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	L	0.37800	1.135	0.09310	N	1	B	0.19073	0.033	B	0.06405	0.002	T	0.38993	-0.9635	9	0.09843	T	0.71	.	3.992	0.09541	0.4069:0.3687:0.0:0.2245	.	527	Q8TF45	ZN418_HUMAN	Q	527;548;493	ENSP00000379451:R527Q;ENSP00000407039:R548Q	ENSP00000379451:R527Q	R	-	2	0	ZNF418	63129781	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-2.519000	0.00952	-0.899000	0.03901	0.313000	0.20887	CGA		0.453	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
ZNF418	147686	broad.mit.edu	37	19	58439147	58439147	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58439147C>A	ENST00000396147.1	-	4	693	c.402G>T	c.(400-402)gaG>gaT	p.E134D	ZNF418_ENST00000425570.3_Missense_Mutation_p.E155D|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.E134D|ZNF418_ENST00000599852.1_Missense_Mutation_p.E49D	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	134					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.E134D(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TATAGGGTTTCTCTCCAAGGT	0.453																																					p.E134D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G402T	19						.						167.0	176.0	173.0					19																	58439147		2198	4300	6498	63130959	SO:0001583	missense	147686	exon4			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.402G>T	19.37:g.58439147C>A	ENSP00000379451:p.Glu134Asp		63130959	NM_133460	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	15.19	2.759223	0.49468	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.09255	3.0;3.02	2.05	-0.995	0.10222	.	.	.	.	.	T	0.26412	0.0645	M	0.79258	2.445	0.09310	N	1	P	0.52842	0.956	D	0.65010	0.931	T	0.07731	-1.0757	9	0.62326	D	0.03	.	6.8305	0.23907	0.0:0.6659:0.0:0.3341	.	134	Q8TF45	ZN418_HUMAN	D	134;155;100	ENSP00000379451:E134D;ENSP00000407039:E155D	ENSP00000379451:E134D	E	-	3	2	ZNF418	63130959	0.998000	0.40836	0.013000	0.15412	0.304000	0.27724	2.818000	0.48041	-0.170000	0.10816	0.305000	0.20034	GAG		0.453	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
ZNF606	80095	broad.mit.edu	37	19	58491206	58491206	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58491206C>A	ENST00000341164.4	-	7	1462	c.842G>T	c.(841-843)aGa>aTa	p.R281I	ZNF606_ENST00000536132.1_Missense_Mutation_p.R191I	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	281					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.R281I(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGTTTGTATTCTTGCAGGGTA	0.323																																					p.R281I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G842T	19						.						77.0	79.0	78.0					19																	58491206		2203	4300	6503	63183018	SO:0001583	missense	80095	exon7			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.842G>T	19.37:g.58491206C>A	ENSP00000343617:p.Arg281Ile		63183018	NM_025027	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	1.952	-0.441097	0.04636	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.12147	2.84;2.71;3.43	4.19	2.06	0.26882	.	0.299822	0.24245	N	0.040233	T	0.12732	0.0309	L	0.41236	1.265	0.09310	N	1	B	0.32693	0.38	B	0.38106	0.265	T	0.16335	-1.0406	10	0.87932	D	0	.	7.3333	0.26594	0.0:0.7125:0.0:0.2874	.	281	Q8WXB4	ZN606_HUMAN	I	281;191;281	ENSP00000343617:R281I;ENSP00000445624:R191I;ENSP00000446972:R281I	ENSP00000343617:R281I	R	-	2	0	ZNF606	63183018	.	.	0.005000	0.12908	0.102000	0.19082	.	.	0.694000	0.31654	0.655000	0.94253	AGA		0.323	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027	
RPS5	6193	broad.mit.edu	37	19	58905932	58905932	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58905932C>T	ENST00000596046.1	+	4	1365	c.516C>T	c.(514-516)tgC>tgT	p.C172C	RPS5_ENST00000196551.3_Silent_p.C172C|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000601521.1_Silent_p.C172C|RPS5_ENST00000598495.1_Silent_p.C193C|RPS5_ENST00000598098.1_Silent_p.C102C			P46782	RS5_HUMAN	ribosomal protein S5	172					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 translational fidelity (GO:0006450)|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)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.C172C(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		TTGCTGAGTGCCTGGCAGATG	0.572																																					p.C172C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C516T	19						.						73.0	75.0	75.0					19																	58905932		2203	4300	6503	63597744	SO:0001819	synonymous_variant	6193	exon5			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.516C>T	19.37:g.58905932C>T			63597744	NM_001009	B2R4T2|Q96BN0	Silent	SNP	ENST00000596046.1	37	CCDS12978.1																																																																																				0.572	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009	
KHSRP	8570	broad.mit.edu	37	19	6416504	6416504	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:6416504G>A	ENST00000398148.3	-	14	1577	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	495	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.I495I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AACCCACCTCGATCTTTTCCT	0.587																																					p.I495I	Colon(55;593 1006 2067 9135 22980)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1485T	19						.						27.0	29.0	28.0					19																	6416504		1880	4092	5972	6367504	SO:0001819	synonymous_variant	8570	exon14			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1485C>T	19.37:g.6416504G>A			6367504	NM_003685	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	CCDS45936.1																																																																																				0.587	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		
ZNF132	7691	broad.mit.edu	37	19	58945966	58945966	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:58945966T>G	ENST00000254166.3	-	3	1245	c.845A>C	c.(844-846)aAa>aCa	p.K282T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	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.K282T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		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;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GTGAAACTTTTTATTACCAAG	0.433																																					p.K282T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A845C	19						.						55.0	63.0	60.0					19																	58945966		2202	4299	6501	63637778	SO:0001583	missense	7691	exon3			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.845A>C	19.37:g.58945966T>G	ENSP00000254166:p.Lys282Thr		63637778	NM_003433	Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	T	8.062	0.768316	0.15983	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.15372	2.43	3.27	2.21	0.28008	.	.	.	.	.	T	0.12390	0.0301	L	0.37466	1.105	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.29792	-1.0000	9	0.62326	D	0.03	.	3.4612	0.07533	0.0:0.1268:0.2386:0.6345	.	282	P52740	ZN132_HUMAN	T	282;193	ENSP00000254166:K282T	ENSP00000254166:K282T	K	-	2	0	ZNF132	63637778	0.370000	0.25047	0.001000	0.08648	0.017000	0.09413	1.256000	0.32921	0.429000	0.26202	0.533000	0.62120	AAA		0.433	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433	
C3	718	broad.mit.edu	37	19	6678419	6678419	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:6678419C>T	ENST00000245907.6	-	39	4770	c.4678G>A	c.(4678-4680)Gag>Aag	p.E1560K	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1560	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)	p.E1560K(1)		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)	ATGATGTACTCGTCAAAGTCA	0.572																																					p.E1560K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4678A	19						.						160.0	107.0	125.0					19																	6678419		2203	4300	6503	6629419	SO:0001583	missense	718	exon39			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.4678G>A	19.37:g.6678419C>T	ENSP00000245907:p.Glu1560Lys		6629419	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	2.972	-0.212191	0.06140	.	.	ENSG00000125730	ENST00000245907	T	0.21031	2.03	4.4	0.976	0.19727	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.803787	0.11320	N	0.576116	T	0.13329	0.0323	L	0.39633	1.23	0.09310	N	1	B;B	0.33940	0.433;0.001	B;B	0.32022	0.139;0.002	T	0.26360	-1.0105	10	0.19147	T	0.46	.	4.335	0.11081	0.0:0.5459:0.1719:0.2821	.	1560;995	P01024;B4E216	CO3_HUMAN;.	K	1560	ENSP00000245907:E1560K	ENSP00000245907:E1560K	E	-	1	0	C3	6629419	0.002000	0.14202	0.007000	0.13788	0.012000	0.07955	0.323000	0.19593	0.502000	0.28037	-1.427000	0.01099	GAG		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
VAV1	7409	broad.mit.edu	37	19	6836549	6836549	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:6836549G>A	ENST00000602142.1	+	20	1966	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	VAV1_ENST00000596764.1_Silent_p.T596T|VAV1_ENST00000539284.1_Silent_p.T531T|VAV1_ENST00000304076.2_Silent_p.T628T|VAV1_ENST00000599806.1_Silent_p.T573T	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	628	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T628T(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGGAGCTCACGAAGGCTGAGG	0.562																																					p.T628T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1884A	19						.						63.0	53.0	56.0					19																	6836549		2203	4300	6503	6787549	SO:0001819	synonymous_variant	7409	exon20				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1884G>A	19.37:g.6836549G>A			6787549	NM_005428	B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	CCDS12174.1																																																																																				0.562	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
INSR	3643	broad.mit.edu	37	19	7142885	7142885	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:7142885G>A	ENST00000302850.5	-	12	2626	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D	INSR_ENST00000341500.5_Silent_p.D816D	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	828	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.D828D(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCTCAGGGGTGTCCTGGTTGC	0.607																																					p.D828D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2484T	19						.						97.0	63.0	75.0					19																	7142885		2203	4300	6503	7093885	SO:0001819	synonymous_variant	3643	exon12			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2484C>T	19.37:g.7142885G>A			7093885	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																				0.607	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
PNPLA6	10908	broad.mit.edu	37	19	7625590	7625590	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:7625590C>A	ENST00000221249.6	+	32	4073	c.3642C>A	c.(3640-3642)gtC>gtA	p.V1214V	PNPLA6_ENST00000545201.2_Silent_p.V1187V|PNPLA6_ENST00000450331.3_Silent_p.V1214V|PNPLA6_ENST00000414982.3_Silent_p.V1262V|PNPLA6_ENST00000600737.1_Silent_p.V1252V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1253					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.V1214V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GTGGCAACGTCATTGAGAAAA	0.587																																					p.V1262V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3786A	19						.						83.0	66.0	71.0					19																	7625590		2203	4300	6503	7531590	SO:0001819	synonymous_variant	10908	exon31			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3642C>A	19.37:g.7625590C>A			7531590	NM_001166111	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.587	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
FBN3	84467	broad.mit.edu	37	19	8152995	8152995	+	Missense_Mutation	SNP	C	C	T	rs370507520		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:8152995C>T	ENST00000600128.1	-	52	6859	c.6445G>A	c.(6445-6447)Gaa>Aaa	p.E2149K	FBN3_ENST00000270509.2_Missense_Mutation_p.E2149K|FBN3_ENST00000601739.1_Missense_Mutation_p.E2149K			Q75N90	FBN3_HUMAN	fibrillin 3	2149	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E2149K(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGCACATTCGAAGCCTCCG	0.617																																					p.E2149K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6445A	19						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	117.0	94.0	102.0		6445	-1.2	0.0	19		102	0,8600		0,0,4300	no	missense	FBN3	NM_032447.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2149/2810	8152995	1,13005	2203	4300	6503	8058995	SO:0001583	missense	84467	exon51				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6445G>A	19.37:g.8152995C>T	ENSP00000470498:p.Glu2149Lys		8058995	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554285	0.27739	2.27E-4	0.0	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92149	-2.98	4.03	-1.22	0.09494	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.125811	0.51477	U	0.000086	T	0.79828	0.4513	N	0.11651	0.15	0.45354	D	0.998344	B	0.21452	0.056	B	0.19391	0.025	T	0.62927	-0.6750	10	0.48119	T	0.1	.	6.9027	0.24291	0.0:0.5787:0.2651:0.1562	.	2149	Q75N90	FBN3_HUMAN	K	2149;255	ENSP00000270509:E2149K	ENSP00000270509:E2149K	E	-	1	0	FBN3	8058995	0.995000	0.38212	0.030000	0.17652	0.160000	0.22226	1.797000	0.38804	-0.331000	0.08501	-0.657000	0.03884	GAA		0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
HNRNPM	4670	broad.mit.edu	37	19	8553661	8553661	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:8553661G>A	ENST00000325495.4	+	16	2157	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	HNRNPM_ENST00000348943.3_Missense_Mutation_p.E667K|HNRNPM_ENST00000602219.1_3'UTR	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	706	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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.E706K(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGAGGTGGCCGAGAGAGCCTG	0.532																																					p.E706K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2116A	19						.						142.0	129.0	133.0					19																	8553661		2203	4300	6503	8459661	SO:0001583	missense	4670	exon16			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.2116G>A	19.37:g.8553661G>A	ENSP00000325376:p.Glu706Lys		8459661	NM_005968	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945869	0.92593	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.17528	2.27;2.27	5.56	5.56	0.83823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043520	0.85682	D	0.000000	T	0.24084	0.0583	N	0.05619	-0.0049999999999999	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.27191	-1.0081	10	0.34782	T	0.22	.	18.083	0.89447	0.0:0.0:1.0:0.0	.	706;667;591	P52272;P52272-2;Q59ES8	HNRPM_HUMAN;.;.	K	706;667;591;263	ENSP00000325376:E706K;ENSP00000325732:E667K	ENSP00000325376:E706K	E	+	1	0	HNRNPM	8459661	1.000000	0.71417	0.909000	0.35828	0.824000	0.46624	9.825000	0.99386	2.605000	0.88082	0.561000	0.74099	GAG		0.532	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		
ZNF699	374879	broad.mit.edu	37	19	9407378	9407378	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:9407378A>C	ENST00000591998.1	-	6	930	c.702T>G	c.(700-702)ttT>ttG	p.F234L	ZNF699_ENST00000308650.3_Missense_Mutation_p.F234L|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	234					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.F234L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACAAGCAAGAAAATGGAAGG	0.448																																					p.F234L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T702G	19						.						133.0	125.0	128.0					19																	9407378		2029	4209	6238	9268378	SO:0001583	missense	374879	exon5			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.702T>G	19.37:g.9407378A>C	ENSP00000467723:p.Phe234Leu		9268378	NM_198535	Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	a	4.044	0.005710	0.07866	.	.	ENSG00000196110	ENST00000308650	T	0.14144	2.53	3.53	0.292	0.15737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36628	N	0.002500	T	0.04543	0.0124	N	0.04063	-0.285	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.43750	-0.9372	10	0.12103	T	0.63	.	6.8364	0.23939	0.6741:0.0:0.3259:0.0	.	234	Q32M78	ZN699_HUMAN	L	234	ENSP00000311596:F234L	ENSP00000311596:F234L	F	-	3	2	ZNF699	9268378	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.160000	0.03147	-0.023000	0.13963	0.449000	0.29647	TTT		0.448	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535	
ZNF266	10781	broad.mit.edu	37	19	9524570	9524570	+	Missense_Mutation	SNP	C	C	T	rs149699312		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:9524570C>T	ENST00000592904.1	-	5	3107	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	ZNF266_ENST00000588933.1_Missense_Mutation_p.R344Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.R344Q|ZNF266_ENST00000361151.1_Missense_Mutation_p.R344Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.R344Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.R344Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.R344Q			Q14584	ZN266_HUMAN	zinc finger protein 266	344					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.R344Q(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGTGTGAATTCGAAAGTGATC	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22533	0.0		0.0	False		,,,				2504	0.0				p.R344Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1031A	19						.						83.0	85.0	84.0					19																	9524570		2203	4300	6503	9385570	SO:0001583	missense	10781	exon11			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1031G>A	19.37:g.9524570C>T	ENSP00000466714:p.Arg344Gln		9385570	NM_006631	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.3	4.518506	0.85495	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.24723	1.84;1.84	2.53	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20941	0.0504	M	0.79123	2.44	0.09310	N	1	P	0.43973	0.823	B	0.22753	0.041	T	0.12760	-1.0535	9	0.72032	D	0.01	.	9.2142	0.37337	0.0:0.7652:0.0:0.2348	.	344	Q14584	ZN266_HUMAN	Q	344	ENSP00000354680:R344Q;ENSP00000355047:R344Q	ENSP00000355047:R344Q	R	-	2	0	ZNF266	9385570	0.000000	0.05858	0.011000	0.14972	0.984000	0.73092	-2.882000	0.00714	-0.464000	0.06963	0.555000	0.69702	CGA		0.393	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
ZNF426	79088	broad.mit.edu	37	19	9639822	9639822	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:9639822C>T	ENST00000535489.1	-	6	1235	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	ZNF426_ENST00000253115.2_Missense_Mutation_p.R300Q|ZNF426_ENST00000593003.1_Missense_Mutation_p.R262Q			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	300					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.R300Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGTGTGGGTTCGCATGTGAAT	0.418																																					p.R300Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G899A	19						.						131.0	124.0	126.0					19																	9639822		2203	4300	6503	9500822	SO:0001583	missense	79088	exon8			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.899G>A	19.37:g.9639822C>T	ENSP00000439017:p.Arg300Gln		9500822	NM_024106	B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	C	7.012	0.556891	0.13436	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.24723	1.84;1.84	1.38	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37945	0.1022	M	0.82323	2.585	0.09310	N	0.999999	D;D	0.69078	0.997;0.997	P;P	0.52514	0.623;0.701	T	0.25745	-1.0123	9	0.87932	D	0	.	5.5586	0.17131	0.0:0.6482:0.0:0.3518	.	287;300	Q59EH4;Q9BUY5	.;ZN426_HUMAN	Q	287;300;300	ENSP00000253115:R300Q;ENSP00000439017:R300Q	ENSP00000253115:R300Q	R	-	2	0	ZNF426	9500822	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	-0.988000	0.03739	-0.230000	0.09840	-0.379000	0.06801	CGA		0.418	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	
ZNF121	7675	broad.mit.edu	37	19	9677130	9677130	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:9677130C>T	ENST00000586602.1	-	6	1075	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	ZNF121_ENST00000320451.6_Missense_Mutation_p.R220Q			P58317	ZN121_HUMAN	zinc finger protein 121	220					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.R220Q(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGTGTGTATTCGTACATGTTT	0.408																																					p.R220Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	19						.						51.0	53.0	52.0					19																	9677130		2203	4300	6503	9538130	SO:0001583	missense	7675	exon4			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.659G>A	19.37:g.9677130C>T	ENSP00000468643:p.Arg220Gln		9538130	NM_001008727		Missense_Mutation	SNP	ENST00000586602.1	37		.	.	.	.	.	.	.	.	.	.	C	11.03	1.518126	0.27211	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.24723	1.84	1.27	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35682	0.0940	L	0.55743	1.74	0.09310	N	1	D	0.76494	0.999	P	0.62184	0.899	T	0.24190	-1.0167	9	0.66056	D	0.02	.	6.4772	0.22043	0.0:0.3281:0.0:0.6719	.	220	P58317	ZN121_HUMAN	Q	220	ENSP00000326967:R220Q	ENSP00000326967:R220Q	R	-	2	0	ZNF121	9538130	0.000000	0.05858	0.000000	0.03702	0.440000	0.31957	-3.228000	0.00549	-0.823000	0.04301	-0.350000	0.07774	CGA		0.408	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727	
ZNF121	7675	broad.mit.edu	37	19	9677364	9677364	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:9677364T>G	ENST00000586602.1	-	6	841	c.425A>C	c.(424-426)aAa>aCa	p.K142T	ZNF121_ENST00000320451.6_Missense_Mutation_p.K142T			P58317	ZN121_HUMAN	zinc finger protein 121	142					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.K142T(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TTCGTAGGGTTTTTCTACAGT	0.383																																					p.K142T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A425C	19						.						84.0	78.0	80.0					19																	9677364		2203	4300	6503	9538364	SO:0001583	missense	7675	exon4			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.425A>C	19.37:g.9677364T>G	ENSP00000468643:p.Lys142Thr		9538364	NM_001008727		Missense_Mutation	SNP	ENST00000586602.1	37		.	.	.	.	.	.	.	.	.	.	T	8.582	0.882608	0.17467	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.24908	1.83	1.3	1.3	0.21679	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47116	0.1428	M	0.85373	2.75	0.09310	N	1	D	0.54772	0.968	P	0.62560	0.904	T	0.21552	-1.0242	9	0.72032	D	0.01	.	6.6906	0.23169	0.0:0.0:0.0:1.0	.	142	P58317	ZN121_HUMAN	T	142	ENSP00000326967:K142T	ENSP00000326967:K142T	K	-	2	0	ZNF121	9538364	0.000000	0.05858	0.034000	0.17996	0.112000	0.19704	-0.056000	0.11787	0.853000	0.35312	0.402000	0.26972	AAA		0.383	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727	
ZNF846	162993	broad.mit.edu	37	19	9868764	9868764	+	Missense_Mutation	SNP	C	C	T	rs60387559	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:9868764C>T	ENST00000397902.2	-	6	1402	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	ZNF846_ENST00000592859.1_Missense_Mutation_p.R201Q|ZNF846_ENST00000588267.1_Missense_Mutation_p.R201Q|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	330					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.R330Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AGTGTGAATTCGCATGTGTAA	0.388																																					p.R330Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989A	19						.						63.0	68.0	66.0					19																	9868764		2172	4293	6465	9729764	SO:0001583	missense	162993	exon6			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.989G>A	19.37:g.9868764C>T	ENSP00000380999:p.Arg330Gln		9729764	NM_001077624	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	18.17	3.565214	0.65651	.	.	ENSG00000196605	ENST00000397902	T	0.24723	1.84	2.01	-3.1	0.05315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11665	0.0284	L	0.45352	1.415	0.09310	N	1	P	0.41748	0.761	B	0.16289	0.015	T	0.14587	-1.0467	8	.	.	.	.	3.6327	0.08138	0.1949:0.251:0.0:0.5541	.	330	Q147U1	ZN846_HUMAN	Q	330	ENSP00000380999:R330Q	.	R	-	2	0	ZNF846	9729764	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-1.594000	0.02094	-0.747000	0.04759	0.456000	0.33151	CGA		0.388	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624	
SLC27A5	10998	broad.mit.edu	37	19	59021320	59021320	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr19:59021320C>A	ENST00000263093.2	-	3	1060	c.951G>T	c.(949-951)aaG>aaT	p.K317N	SLC27A5_ENST00000601355.1_Missense_Mutation_p.K233N	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	317					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.K317N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGACAGCATCTTGCTCATCT	0.577																																					p.K317N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G951T	19						.						188.0	122.0	144.0					19																	59021320		2203	4300	6503	63713132	SO:0001583	missense	10998	exon3			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.951G>T	19.37:g.59021320C>A	ENSP00000263093:p.Lys317Asn		63713132	NM_012254	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	c	5.447	0.267656	0.10294	.	.	ENSG00000083807	ENST00000263093	T	0.47528	0.84	4.71	-6.47	0.01902	AMP-dependent synthetase/ligase (1);	2.329850	0.01144	N	0.006268	T	0.15825	0.0381	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.13072	-1.0523	10	0.19147	T	0.46	0.0123	4.0702	0.09879	0.1235:0.1703:0.5149:0.1913	.	317	Q9Y2P5	S27A5_HUMAN	N	317	ENSP00000263093:K317N	ENSP00000263093:K317N	K	-	3	2	SLC27A5	63713132	0.000000	0.05858	0.003000	0.11579	0.469000	0.32828	-1.886000	0.01619	-0.687000	0.05162	0.485000	0.47835	AAG		0.577	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254	
AGL	178	broad.mit.edu	37	1	100327973	100327973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:100327973G>T	ENST00000294724.4	+	4	932	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	AGL_ENST00000370165.3_Nonsense_Mutation_p.E152*|AGL_ENST00000370161.2_Nonsense_Mutation_p.E136*|AGL_ENST00000361522.4_Nonsense_Mutation_p.E135*|AGL_ENST00000370163.3_Nonsense_Mutation_p.E152*|AGL_ENST00000361915.3_Nonsense_Mutation_p.E152*|AGL_ENST00000361302.3_Nonsense_Mutation_p.E136*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	152					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)	p.E152*(1)		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)		GGTTGCAAAAGAATCAGGTAA	0.328																																					p.E135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G403T	1						.						167.0	157.0	161.0					1																	100327973		2203	4300	6503	100100561	SO:0001587	stop_gained	178	exon2			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.454G>T	1.37:g.100327973G>T	ENSP00000294724:p.Glu152*		100100561	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	39	7.596050	0.98381	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.53	5.53	0.82687	.	0.127226	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.4571	0.94897	0.0:0.0:1.0:0.0	.	.	.	.	X	152;152;152;152;136;136;135	.	ENSP00000294724:E152X	E	+	1	0	AGL	100100561	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	7.894000	0.87336	2.599000	0.87857	0.655000	0.94253	GAA		0.328	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
CDC14A	8556	broad.mit.edu	37	1	100928221	100928221	+	Missense_Mutation	SNP	G	G	A	rs371468460		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:100928221G>A	ENST00000336454.3	+	9	977	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	CDC14A_ENST00000370125.2_Silent_p.T178T|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000544534.1_Missense_Mutation_p.A208T|CDC14A_ENST00000370124.3_Missense_Mutation_p.A208T|CDC14A_ENST00000542213.1_Missense_Mutation_p.A150T|CDC14A_ENST00000361544.6_Missense_Mutation_p.A208T	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	208	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A208T(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCCTCTTCACGCCCCTGAAGC	0.413																																					p.A208T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622A	1						.	G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	81.0	76.0	78.0		622,622,622	5.8	1.0	1		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDC14A	NM_003672.3,NM_033312.2,NM_033313.2	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	208/595,208/624,208/384	100928221	1,13005	2203	4300	6503	100700809	SO:0001583	missense	8556	exon9			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.622G>A	1.37:g.100928221G>A	ENSP00000336739:p.Ala208Thr		100700809	NM_033312	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711427	0.68730	0.0	1.16E-4	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T	0.23348	2.74;1.91;2.78;2.87;2.94;2.79	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	N	0.25286	0.73	0.80722	D	1	P;D;P;D;B	0.55605	0.545;0.972;0.951;0.965;0.189	B;P;P;P;B	0.55222	0.163;0.771;0.545;0.66;0.079	T	0.02805	-1.1108	10	0.66056	D	0.02	-12.5147	20.0079	0.97439	0.0:0.0:1.0:0.0	.	150;208;208;208;208	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	T	150;209;208;208;208;208	ENSP00000442640:A150T;ENSP00000388501:A209T;ENSP00000354916:A208T;ENSP00000359142:A208T;ENSP00000336739:A208T;ENSP00000442543:A208T	ENSP00000336739:A208T	A	+	1	0	CDC14A	100700809	1.000000	0.71417	0.985000	0.45067	0.976000	0.68499	7.529000	0.81952	2.726000	0.93360	0.561000	0.74099	GCC		0.413	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	
VCAM1	7412	broad.mit.edu	37	1	101197032	101197032	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:101197032G>A	ENST00000294728.2	+	6	1584	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	VCAM1_ENST00000370119.4_Missense_Mutation_p.E433K|VCAM1_ENST00000347652.2_Missense_Mutation_p.E403K|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	495	Ig-like C2-type 5.				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.E495K(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)	CATGGAATTCGAACCCAAACA	0.378																																					p.E433K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1297A	1						.						106.0	102.0	103.0					1																	101197032		2203	4300	6503	100969620	SO:0001583	missense	7412	exon6			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.1483G>A	1.37:g.101197032G>A	ENSP00000294728:p.Glu495Lys		100969620	NM_001199834	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691280	0.68271	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728	T;T;T	0.23552	1.9;1.9;1.9	5.42	5.42	0.78866	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.396684	0.30109	N	0.010388	T	0.36248	0.0960	M	0.66939	2.045	0.80722	D	1	D;P;D	0.76494	0.997;0.938;0.999	P;P;D	0.66602	0.877;0.454;0.945	T	0.02774	-1.1112	10	0.16420	T	0.52	-25.9576	17.5785	0.87958	0.0:0.0:1.0:0.0	.	433;403;495	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	K	433;403;495	ENSP00000359137:E433K;ENSP00000304611:E403K;ENSP00000294728:E495K	ENSP00000294728:E495K	E	+	1	0	VCAM1	100969620	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	4.060000	0.57477	2.817000	0.96982	0.563000	0.77884	GAA		0.378	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
VCAM1	7412	broad.mit.edu	37	1	101203826	101203826	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:101203826A>C	ENST00000294728.2	+	9	2308	c.2207A>C	c.(2206-2208)aAg>aCg	p.K736T	VCAM1_ENST00000370119.4_Missense_Mutation_p.K674T|VCAM1_ENST00000347652.2_Missense_Mutation_p.K644T|VCAM1_ENST00000370115.1_Missense_Mutation_p.K537T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	736					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.K736T(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)	GAAGCACAGAAGTCAAAAGTG	0.363																																					p.K674T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2021C	1						.						89.0	88.0	88.0					1																	101203826		2203	4299	6502	100976414	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.2207A>C	1.37:g.101203826A>C	ENSP00000294728:p.Lys736Thr		100976414	NM_001199834	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889120	0.52014	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.63580	0.44;-0.05;0.91;0.77	5.9	5.9	0.94986	.	0.213774	0.47852	D	0.000219	T	0.54415	0.1857	L	0.27053	0.805	0.24947	N	0.991811	D;D;D	0.76494	0.994;0.999;0.989	P;D;P	0.67382	0.832;0.951;0.832	T	0.57004	-0.7885	10	0.72032	D	0.01	-21.8305	10.9236	0.47180	0.922:0.0:0.078:0.0	.	674;644;736	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	T	674;644;736;537	ENSP00000359137:K674T;ENSP00000304611:K644T;ENSP00000294728:K736T;ENSP00000359133:K537T	ENSP00000294728:K736T	K	+	2	0	VCAM1	100976414	0.999000	0.42202	0.980000	0.43619	0.500000	0.33767	3.191000	0.50981	2.254000	0.74563	0.482000	0.46254	AAG		0.363	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
KIF1B	23095	broad.mit.edu	37	1	10363245	10363245	+	Intron	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:10363245G>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.D668N|KIF1B_ENST00000377093.4_Missense_Mutation_p.D668N			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.D668N(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)		TAGCGGGGACGATTCTGACAA	0.383																																					p.D668N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2002A	1						.						62.0	65.0	64.0					1																	10363245		2203	4300	6503	10285832	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+5941G>A	1.37:g.10363245G>A			10285832	NM_183416	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.122897	0.77436	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73152	-0.72;-0.72	5.83	4.9	0.64082	.	.	.	.	.	D	0.84547	0.5496	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.86356	0.1714	8	0.52906	T	0.07	.	17.1363	0.86740	0.0:0.1266:0.8734:0.0	.	668	O60333-3	.	N	668	ENSP00000366297:D668N;ENSP00000366287:D668N	ENSP00000366287:D668N	D	+	1	0	KIF1B	10285832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.671000	0.98627	1.582000	0.49881	0.650000	0.86243	GAT		0.383	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
OLFM3	118427	broad.mit.edu	37	1	102290603	102290603	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:102290603G>A	ENST00000338858.5	-	4	630	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	OLFM3_ENST00000359814.3_Missense_Mutation_p.R211C|OLFM3_ENST00000370103.4_Missense_Mutation_p.R191C|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116C			Q96PB7	NOE3_HUMAN	olfactomedin 3	211					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.R211C(1)|p.R191C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ATGCAGTCACGAAGTCTTGTT	0.373																																					p.R191C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C571T	1						.						140.0	133.0	136.0					1																	102290603		2203	4300	6503	102063191	SO:0001583	missense	118427	exon4			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.631C>T	1.37:g.102290603G>A	ENSP00000345192:p.Arg211Cys		102063191	NM_058170	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.074479	0.76415	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88896	-2.42;-2.44;-0.97;0.31	5.86	5.86	0.93980	.	0.053965	0.85682	D	0.000000	D	0.89483	0.6728	L	0.59436	1.845	0.49582	D	0.999807	D;D	0.69078	0.997;0.99	P;B	0.55455	0.776;0.353	D	0.90483	0.4461	10	0.87932	D	0	.	13.595	0.61984	0.0:0.0:0.7288:0.2712	.	191;211	Q5T3V6;Q96PB7	.;NOE3_HUMAN	C	62;191;211;116;211	ENSP00000359121:R191C;ENSP00000345192:R211C;ENSP00000443471:R116C;ENSP00000352867:R211C	ENSP00000345192:R211C	R	-	1	0	OLFM3	102063191	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.035000	0.57297	2.777000	0.95525	0.655000	0.94253	CGT		0.373	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1		
CASZ1	54897	broad.mit.edu	37	1	10715763	10715763	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:10715763G>A	ENST00000377022.3	-	9	1925	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	CASZ1_ENST00000344008.5_Silent_p.S536S|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	536					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|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)	p.S536S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTAGTAGACGCTGCAGTCGT	0.622																																					p.S536S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1608T	1						.						168.0	121.0	137.0					1																	10715763		2202	4300	6502	10638350	SO:0001819	synonymous_variant	54897	exon9			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1608C>T	1.37:g.10715763G>A			10638350	NM_001079843	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																				0.622	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
COL11A1	1301	broad.mit.edu	37	1	103356059	103356059	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:103356059C>T	ENST00000370096.3	-	58	4616	c.4304G>A	c.(4303-4305)gGa>gAa	p.G1435E	COL11A1_ENST00000512756.1_Splice_Site_p.G1319E|COL11A1_ENST00000358392.2_Splice_Site_p.G1447E|COL11A1_ENST00000353414.4_Splice_Site_p.G1396E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1435	Collagen-like 6.|Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1447V(1)|p.G1447E(1)|p.G1435V(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)		GCCAGGAGGTCCCTAAATAAT	0.333																																					p.G1435E												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G4304A	1						.						32.0	31.0	32.0					1																	103356059		2203	4300	6503	103128647	SO:0001630	splice_region_variant	1301	exon58			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.4303-1G>A	1.37:g.103356059C>T			103128647	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103170	0.76983	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97962	4.115	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;1.0;1.0;0.998	D	0.96749	0.9552	10	0.87932	D	0	.	19.7017	0.96057	0.0:1.0:0.0:0.0	.	1319;1396;1447;1435;655	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1435;1447;1396;655;1319	ENSP00000359114:G1435E;ENSP00000351163:G1447E;ENSP00000302551:G1396E;ENSP00000426533:G1319E	ENSP00000302551:G1396E	G	-	2	0	COL11A1	103128647	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.889000	0.69766	2.724000	0.93272	0.561000	0.74099	GGA		0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation
VAV3	10451	broad.mit.edu	37	1	108145748	108145748	+	Missense_Mutation	SNP	C	C	T	rs139894223		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:108145748C>T	ENST00000370056.4	-	23	2327	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.E685K|VAV3_ENST00000415432.2_Missense_Mutation_p.E125K|VAV3_ENST00000544443.1_Missense_Mutation_p.E89K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	685	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|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.E685K(2)		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)		TTAATAAGTTCGGTCTCTGCT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		18485	0.001		0.0	False		,,,				2504	0.0				p.E685K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2053A	1						.	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	147.0	134.0	138.0		373,2053	5.8	1.0	1	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	VAV3	NM_001079874.1,NM_006113.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	125/288,685/848	108145748	1,13005	2203	4300	6503	107947271	SO:0001583	missense	10451	exon23			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.2053G>A	1.37:g.108145748C>T	ENSP00000359073:p.Glu685Lys		107947271	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.800258	0.90538	0.0	1.16E-4	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.82	5.82	0.92795	SH2 motif (5);	0.050734	0.85682	D	0.000000	T	0.82051	0.4953	N	0.17312	0.475	0.80722	D	1	D;P;P;D	0.71674	0.998;0.504;0.885;0.997	D;B;P;P	0.65987	0.94;0.19;0.584;0.8	T	0.77707	-0.2487	10	0.06099	T	0.92	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	685;89;685;125	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	K	685;685;89;125	ENSP00000359073:E685K;ENSP00000432540:E685K;ENSP00000446404:E89K;ENSP00000394897:E125K	ENSP00000359073:E685K	E	-	1	0	VAV3	107947271	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.727000	0.68523	2.756000	0.94617	0.563000	0.77884	GAA		0.373	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
VAV3	10451	broad.mit.edu	37	1	108291646	108291646	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:108291646A>C	ENST00000370056.4	-	15	1720	c.1446T>G	c.(1444-1446)ttT>ttG	p.F482L	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.F482L|VAV3_ENST00000371846.4_Missense_Mutation_p.F417L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	482	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.F482L(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)		TTTTGCAATAAAATTCTAACC	0.274																																					p.F482L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1446G	1						.						60.0	61.0	61.0					1																	108291646		2203	4299	6502	108093169	SO:0001583	missense	10451	exon15			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.1446T>G	1.37:g.108291646A>C	ENSP00000359073:p.Phe482Leu		108093169	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.069|6.069	0.381048|0.381048	0.11466|0.11466	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000529809;ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	D;D|D;D;D	0.91351|0.87650	-2.83;-2.83|-2.28;-2.28;-2.28	5.77|5.77	3.4|3.4	0.38934|0.38934	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.049599|0.049599	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51500|0.51500	0.1678|0.1678	N|N	0.16368|0.16368	0.405|0.405	0.47862|0.47862	D|D	0.99953|0.99953	.|B;B;B;B	.|0.12013	.|0.001;0.005;0.001;0.0	.|B;B;B;B	.|0.20955	.|0.014;0.032;0.009;0.006	T|T	0.53774|0.53774	-0.8391|-0.8391	8|10	0.52906|0.02654	T|T	0.07|1	.|.	4.9176|4.9176	0.13853|0.13853	0.5229:0.3275:0.1495:0.0|0.5229:0.3275:0.1495:0.0	.|.	.|482;482;417;482	.|B7ZLR1;E9PQ97;B4DHL6;Q9UKW4	.|.;.;.;VAV3_HUMAN	C|L	34;477|482;482;417	ENSP00000431544:F34C;ENSP00000433559:F477C|ENSP00000359073:F482L;ENSP00000432540:F482L;ENSP00000360912:F417L	ENSP00000433559:F477C|ENSP00000359073:F482L	F|F	-|-	2|3	0|2	VAV3|VAV3	108093169|108093169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.414000|3.414000	0.52693|0.52693	0.990000|0.990000	0.38787|0.38787	0.477000|0.477000	0.44152|0.44152	TTT|TTT		0.274	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
SLC25A24	29957	broad.mit.edu	37	1	108679411	108679411	+	Missense_Mutation	SNP	C	C	T	rs149670605	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:108679411C>T	ENST00000565488.1	-	10	1517	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	SLC25A24_ENST00000370041.4_Missense_Mutation_p.R414Q	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	433					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.R414Q(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GGAAATAATTCGTCGAAAGAG	0.378																																					p.R433Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1298A	1						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	104.0	106.0	105.0		1298,1241	3.7	1.0	1	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC25A24	NM_013386.3,NM_213651.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	433/478,414/459	108679411	1,13005	2203	4300	6503	108480934	SO:0001583	missense	29957	exon10			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.1298G>A	1.37:g.108679411C>T	ENSP00000457733:p.Arg433Gln		108480934	NM_013386	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510752	0.27036	0.0	1.16E-4	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.78924	-1.22	5.55	3.66	0.41972	Mitochondrial carrier domain (2);	0.282328	0.39146	N	0.001443	T	0.39733	0.1089	N	0.10874	0.06	0.80722	D	1	B;B	0.15473	0.013;0.012	B;B	0.12156	0.007;0.004	T	0.34675	-0.9819	10	0.23891	T	0.37	-5.8483	9.2389	0.37484	0.0:0.7783:0.0:0.2217	.	433;414	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	Q	433;414	ENSP00000359058:R414Q	ENSP00000264128:R433Q	R	-	2	0	SLC25A24	108480934	0.788000	0.28762	0.958000	0.39756	0.975000	0.68041	1.333000	0.33816	1.586000	0.49944	0.655000	0.94253	CGA		0.378	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386	
PRPF38B	55119	broad.mit.edu	37	1	109242103	109242103	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:109242103C>T	ENST00000370025.4	+	6	1371	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R257C	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	368	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R368S(1)|p.R368C(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		aagacgagatcgtgactatga	0.448																																					p.R368C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1102T	1						.						39.0	37.0	37.0					1																	109242103		2203	4299	6502	109043626	SO:0001583	missense	55119	exon6			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1102C>T	1.37:g.109242103C>T	ENSP00000359042:p.Arg368Cys		109043626	NM_018061	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671702	0.29693	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.14893	4.14;2.47	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	N	0.19112	0.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.04360	-1.0957	10	0.87932	D	0	.	15.2225	0.73324	0.1493:0.8507:0.0:0.0	.	368	Q5VTL8	PR38B_HUMAN	C	368;257	ENSP00000359042:R368C;ENSP00000359038:R257C	ENSP00000359038:R257C	R	+	1	0	PRPF38B	109043626	0.934000	0.31675	1.000000	0.80357	0.979000	0.70002	1.591000	0.36665	2.610000	0.88304	0.591000	0.81541	CGT		0.448	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061	
CELSR2	1952	broad.mit.edu	37	1	109795406	109795406	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:109795406G>A	ENST00000271332.3	+	1	2766	c.2705G>A	c.(2704-2706)cGc>cAc	p.R902H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	902	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R902H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCAGCCCGCACACCTATG	0.552																																					p.R902H	NSCLC(158;1285 2011 34800 34852 42084)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2705A	1						.						76.0	72.0	73.0					1																	109795406		2203	4300	6503	109596929	SO:0001583	missense	1952	exon1			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2705G>A	1.37:g.109795406G>A	ENSP00000271332:p.Arg902His		109596929	NM_001408	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	14.71	2.616595	0.46736	.	.	ENSG00000143126	ENST00000271332	T	0.52754	0.65	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29288	0.0729	N	0.04162	-0.26	0.33158	D	0.546566	D	0.76494	0.999	D	0.69307	0.963	T	0.16988	-1.0384	9	0.30854	T	0.27	.	11.0314	0.47774	0.0859:0.0:0.9141:0.0	.	902	Q9HCU4	CELR2_HUMAN	H	902	ENSP00000271332:R902H	ENSP00000271332:R902H	R	+	2	0	CELSR2	109596929	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.991000	0.49409	2.441000	0.82636	0.555000	0.69702	CGC		0.552	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
MYBPHL	343263	broad.mit.edu	37	1	109839517	109839517	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:109839517G>T	ENST00000357155.1	-	5	667	c.618C>A	c.(616-618)gtC>gtA	p.V206V	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	206	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.V206V(1)		central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TGAGGTCAGAGACGATGCAGC	0.577																																					p.V206V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C618A	1						.						130.0	103.0	112.0					1																	109839517		2203	4300	6503	109641040	SO:0001819	synonymous_variant	343263	exon5			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.618C>A	1.37:g.109839517G>T			109641040	NM_001010985	B7ZME5|Q5T2Z7	Silent	SNP	ENST00000357155.1	37	CCDS30793.1																																																																																				0.577	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985	
SYPL2	284612	broad.mit.edu	37	1	110020565	110020565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:110020565C>A	ENST00000369872.3	+	5	798	c.582C>A	c.(580-582)tgC>tgA	p.C194*	SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	194	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.C194*(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGTCAGTGTGCCATGGAGAGG	0.632																																					p.C194X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C582A	1						.						63.0	64.0	63.0					1																	110020565		2126	4247	6373	109822088	SO:0001587	stop_gained	284612	exon5			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.582C>A	1.37:g.110020565C>A	ENSP00000358888:p.Cys194*		109822088	NM_001040709	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Nonsense_Mutation	SNP	ENST00000369872.3	37	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	C	36	5.870672	0.97049	.	.	ENSG00000143028	ENST00000369872	.	.	.	6.04	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6135	0.39676	0.0:0.7769:0.0:0.2231	.	.	.	.	X	194	.	ENSP00000358888:C194X	C	+	3	2	SYPL2	109822088	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.859000	0.39418	0.898000	0.36418	0.561000	0.74099	TGC		0.632	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603	
GPR61	83873	broad.mit.edu	37	1	110085828	110085828	+	Missense_Mutation	SNP	G	G	A	rs201647649		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:110085828G>A	ENST00000527748.1	+	2	867	c.184G>A	c.(184-186)Gct>Act	p.A62T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.A62T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGCAATGCCGCTGTGATGGC	0.612																																					p.A62T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G184A	1						.						159.0	153.0	155.0					1																	110085828		2203	4300	6503	109887351	SO:0001583	missense	83873	exon2			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.184G>A	1.37:g.110085828G>A	ENSP00000432456:p.Ala62Thr		109887351	NM_031936	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806331	0.90623	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.71934	-0.61	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	L	0.46614	1.455	0.58432	D	0.999999	D	0.67145	0.996	P	0.59288	0.855	T	0.76597	-0.2901	10	0.72032	D	0.01	-12.7317	18.6137	0.91295	0.0:0.0:1.0:0.0	.	62	Q9BZJ8	GPR61_HUMAN	T	62;190	ENSP00000432456:A62T	ENSP00000286603:A190T	A	+	1	0	GPR61	109887351	1.000000	0.71417	0.937000	0.37676	0.939000	0.58152	9.861000	0.99562	2.479000	0.83701	0.561000	0.74099	GCT		0.612	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1		
GNAT2	2780	broad.mit.edu	37	1	110149038	110149038	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:110149038C>T	ENST00000351050.3	-	5	668	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	161					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.R161Q(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)		GTCTGTAATTCGTTCTAATTG	0.433																																					p.R161Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	1						.						127.0	118.0	121.0					1																	110149038		2203	4300	6503	109950561	SO:0001583	missense	2780	exon5			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.482G>A	1.37:g.110149038C>T	ENSP00000251337:p.Arg161Gln		109950561	NM_005272		Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836733	0.71373	.	.	ENSG00000134183	ENST00000351050	D	0.91792	-2.91	5.19	4.28	0.50868	G protein alpha subunit, helical insertion (2);	0.055908	0.64402	N	0.000001	D	0.91462	0.7305	M	0.92784	3.345	0.58432	D	0.999999	P	0.52463	0.953	B	0.40602	0.334	D	0.92935	0.6367	10	0.87932	D	0	.	13.9619	0.64185	0.0:0.9261:0.0:0.0739	.	161	P19087	GNAT2_HUMAN	Q	161	ENSP00000251337:R161Q	ENSP00000251337:R161Q	R	-	2	0	GNAT2	109950561	1.000000	0.71417	0.998000	0.56505	0.208000	0.24298	4.787000	0.62432	1.565000	0.49641	0.655000	0.94253	CGA		0.433	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272	
GSTM2	2946	broad.mit.edu	37	1	110213993	110213993	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:110213993C>A	ENST00000241337.4	+	6	495	c.445C>A	c.(445-447)Ctt>Att	p.L149I	GSTM2_ENST00000369827.3_Missense_Mutation_p.L147I|GSTM2_ENST00000442650.1_Missense_Mutation_p.L149I|GSTM2_ENST00000369831.2_Missense_Mutation_p.L149I|GSTM2_ENST00000369829.2_Missense_Mutation_p.L149I|GSTM2_ENST00000414179.2_Missense_Mutation_p.L45I|GSTM2_ENST00000460717.3_Missense_Mutation_p.L149I	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	149	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L149I(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCATGGTTTCTTGGGGACAA	0.488																																					p.L149I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445A	1						.						77.0	75.0	76.0					1																	110213993		2203	4300	6503	110015516	SO:0001583	missense	2946	exon6			M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.445C>A	1.37:g.110213993C>A	ENSP00000241337:p.Leu149Ile		110015516	NM_000848	B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	CCDS808.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833192	0.32421	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T;T	0.03635	4.51;3.86;4.51;4.51;3.86;4.51;4.51;4.51	3.06	2.12	0.27331	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.246947	0.31031	U	0.008381	T	0.01558	0.0050	N	0.21194	0.64	0.23070	N	0.998345	B;B;B	0.18610	0.012;0.003;0.029	B;B;B	0.38194	0.267;0.032;0.119	T	0.43940	-0.9360	10	0.66056	D	0.02	.	9.3046	0.37867	0.0:0.2375:0.7625:0.0	.	149;149;149	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	I	149;147;149;149;140;45;149;149	ENSP00000416883:L149I;ENSP00000358842:L147I;ENSP00000358846:L149I;ENSP00000435910:L149I;ENSP00000435157:L140I;ENSP00000404662:L45I;ENSP00000358844:L149I;ENSP00000241337:L149I	ENSP00000241337:L149I	L	+	1	0	GSTM2	110015516	1.000000	0.71417	0.991000	0.47740	0.711000	0.40976	1.172000	0.31908	0.593000	0.29745	-0.494000	0.04653	CTT		0.488	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848	
EXOSC10	5394	broad.mit.edu	37	1	11136909	11136909	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:11136909G>A	ENST00000376936.4	-	17	2025	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Missense_Mutation_p.T659M	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	659					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T659M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATTAAATAACGTGATGACAGC	0.483																																					p.T659M	Colon(179;105 1987 14326 27364 29542)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1976T	1						.						103.0	103.0	103.0					1																	11136909		2203	4300	6503	11059496	SO:0001583	missense	5394	exon17			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1976C>T	1.37:g.11136909G>A	ENSP00000366135:p.Thr659Met		11059496	NM_001001998	B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075552	0.55646	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.22	5.22	0.72569	.	0.096082	0.64402	D	0.000001	T	0.75095	0.3803	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67103	0.949;0.891	T	0.76788	-0.2830	9	0.62326	D	0.03	-19.9853	14.6438	0.68745	0.0:0.0:1.0:0.0	.	659;659	Q01780-2;Q01780	.;EXOSX_HUMAN	M	659	.	ENSP00000307307:T659M	T	-	2	0	EXOSC10	11059496	0.999000	0.42202	0.944000	0.38274	0.408000	0.30992	3.719000	0.54926	2.579000	0.87056	0.561000	0.74099	ACG		0.483	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998	
MTOR	2475	broad.mit.edu	37	1	11174456	11174456	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:11174456G>A	ENST00000361445.4	-	53	7295	c.7219C>T	c.(7219-7221)Ctg>Ttg	p.L2407L	MTOR_ENST00000376838.1_Silent_p.L612L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2407	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L2407L(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGCTCTCGCAGCACCTCCATC	0.527																																					p.L2407L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7219T	1						.						159.0	127.0	138.0					1																	11174456		2203	4300	6503	11097043	SO:0001819	synonymous_variant	2475	exon53			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7219C>T	1.37:g.11174456G>A			11097043	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																				0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
MTOR	2475	broad.mit.edu	37	1	11273554	11273554	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:11273554G>A	ENST00000361445.4	-	21	3263	c.3187C>T	c.(3187-3189)Ctt>Ttt	p.L1063F		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1063					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1063F(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCACCCCCAAGAGCTACCACA	0.483																																					p.L1063F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3187T	1						.						115.0	111.0	112.0					1																	11273554		2203	4300	6503	11196141	SO:0001583	missense	2475	exon21			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3187C>T	1.37:g.11273554G>A	ENSP00000354558:p.Leu1063Phe		11196141	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615065	0.87359	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.73258	-0.73	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.85392	0.5686	M	0.87682	2.9	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	D	0.87250	0.2272	10	0.87932	D	0	-20.3842	14.4127	0.67124	0.07:0.0:0.93:0.0	.	1063	P42345	MTOR_HUMAN	F	1063	ENSP00000354558:L1063F	ENSP00000354558:L1063F	L	-	1	0	MTOR	11196141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.274000	0.72587	2.783000	0.95769	0.655000	0.94253	CTT		0.483	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
STRIP1	85369	broad.mit.edu	37	1	110594358	110594358	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:110594358A>C	ENST00000369795.3	+	20	2137	c.2115A>C	c.(2113-2115)aaA>aaC	p.K705N	STRIP1_ENST00000369796.1_Missense_Mutation_p.K610N	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	705					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.K705N(1)									TAAAGGTGAAACAAGCCATGA	0.502																																					p.K705N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2115C	1						.						62.0	53.0	56.0					1																	110594358		2203	4300	6503	110395881	SO:0001583	missense	85369	exon20			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.2115A>C	1.37:g.110594358A>C	ENSP00000358810:p.Lys705Asn		110395881	NM_033088	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596206	0.86953	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.44881	0.92;0.91	5.72	-9.02	0.00741	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	L	0.41124	1.26	0.80722	D	1	P;B	0.36010	0.532;0.437	B;P	0.46917	0.284;0.531	T	0.51631	-0.8681	10	0.27785	T	0.31	-21.2428	20.9101	0.99941	0.2806:0.0:0.7194:0.0	.	610;705	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	N	610;705	ENSP00000358811:K610N;ENSP00000358810:K705N	ENSP00000358810:K705N	K	+	3	2	FAM40A	110395881	0.921000	0.31238	0.854000	0.33618	0.997000	0.91878	-0.023000	0.12456	-1.515000	0.01784	0.459000	0.35465	AAA		0.502	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088	
CTTNBP2NL	55917	broad.mit.edu	37	1	112999040	112999040	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:112999040C>T	ENST00000271277.6	+	6	1151	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	309					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.S309F(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)		ATGCTAATGTCTGTGTTTTGC	0.507																																					p.S309F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926T	1						.						127.0	131.0	130.0					1																	112999040		2203	4300	6503	112800563	SO:0001583	missense	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.926C>T	1.37:g.112999040C>T	ENSP00000271277:p.Ser309Phe		112800563	NM_018704	B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	CCDS845.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727121	0.69074	.	.	ENSG00000143079	ENST00000271277	T	0.29655	1.56	5.88	5.88	0.94601	.	0.253070	0.41294	D	0.000913	T	0.51466	0.1676	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.49293	-0.8955	10	0.59425	D	0.04	-16.9914	19.8373	0.96661	0.0:1.0:0.0:0.0	.	309	Q9P2B4	CT2NL_HUMAN	F	309	ENSP00000271277:S309F	ENSP00000271277:S309F	S	+	2	0	CTTNBP2NL	112800563	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	4.663000	0.61532	2.782000	0.95742	0.655000	0.94253	TCT		0.507	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704	
MAGI3	260425	broad.mit.edu	37	1	114184534	114184534	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:114184534C>T	ENST00000307546.9	+	10	1437	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	MAGI3_ENST00000369615.1_Splice_Site_p.G454G|MAGI3_ENST00000369617.4_Splice_Site_p.G479G|MAGI3_ENST00000369611.4_Splice_Site_p.G454G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	479	Interaction with PTEN.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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.G454G(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)		TTTTTCCAGGCGATGTTATTG	0.333																																					p.G454G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1362T	1						.						101.0	95.0	97.0					1																	114184534		2203	4300	6503	113986057	SO:0001630	splice_region_variant	260425	exon10			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.1361-1C>T	1.37:g.114184534C>T			113986057	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	CCDS44196.1																																																																																				0.333	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	Silent
HIPK1	204851	broad.mit.edu	37	1	114483379	114483379	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:114483379G>A	ENST00000369558.1	+	2	606	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	HIPK1_ENST00000369561.4_Missense_Mutation_p.R125Q|HIPK1_ENST00000369555.2_Missense_Mutation_p.R125Q|HIPK1_ENST00000426820.2_Missense_Mutation_p.R125Q|HIPK1_ENST00000369559.4_Missense_Mutation_p.R125Q|HIPK1_ENST00000369554.2_Missense_Mutation_p.R125Q			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	125					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R125Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		GGATTGAAACGAAAAAGTGAG	0.488																																					p.R125Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G374A	1						.						64.0	60.0	61.0					1																	114483379		2203	4300	6503	114284902	SO:0001583	missense	204851	exon2			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.374G>A	1.37:g.114483379G>A	ENSP00000358571:p.Arg125Gln		114284902	NM_198268	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001751	0.93227	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.58210	0.45;0.47;0.41;0.35;0.35;0.41;0.45	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	T	0.70141	0.3190	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.69479	0.953;0.964	T	0.73538	-0.3951	10	0.62326	D	0.03	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	125;125	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	Q	196;125;125;125;125;125;125	ENSP00000407442:R196Q;ENSP00000358572:R125Q;ENSP00000409673:R125Q;ENSP00000358567:R125Q;ENSP00000358568:R125Q;ENSP00000358571:R125Q;ENSP00000358574:R125Q	ENSP00000358567:R125Q	R	+	2	0	HIPK1	114284902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.546000	0.85860	0.650000	0.86243	CGA		0.488	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
OLFML3	56944	broad.mit.edu	37	1	114523080	114523080	+	Missense_Mutation	SNP	G	G	A	rs376037375		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:114523080G>A	ENST00000320334.4	+	2	315	c.241G>A	c.(241-243)Gac>Aac	p.D81N	OLFML3_ENST00000393300.2_Missense_Mutation_p.D61N|OLFML3_ENST00000369551.1_Missense_Mutation_p.D61N|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	81					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)		p.D81N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		AACTGAGGCCGACACCATCTC	0.582																																					p.D81N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	1						.	G	ASN/ASP	0,4406		0,0,2203	80.0	82.0	81.0		241	4.4	1.0	1		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	OLFML3	NM_020190.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	81/407	114523080	1,13005	2203	4300	6503	114324603	SO:0001583	missense	56944	exon2			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.241G>A	1.37:g.114523080G>A	ENSP00000322273:p.Asp81Asn		114324603	NM_020190	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	CCDS870.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771972	0.90108	0.0	1.16E-4	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.88046	-2.33;-2.33;-2.33	5.36	4.42	0.53409	.	0.139775	0.64402	D	0.000005	T	0.81317	0.4797	L	0.27053	0.805	0.51233	D	0.999915	D;P	0.67145	0.996;0.715	P;B	0.53861	0.736;0.069	T	0.83322	-0.0017	10	0.49607	T	0.09	.	14.784	0.69787	0.0:0.0:0.8545:0.1455	.	61;81	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	N	61;81;61	ENSP00000358564:D61N;ENSP00000322273:D81N;ENSP00000376977:D61N	ENSP00000322273:D81N	D	+	1	0	OLFML3	114324603	1.000000	0.71417	0.965000	0.40720	0.864000	0.49448	5.073000	0.64395	1.202000	0.43218	0.561000	0.74099	GAC		0.582	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190	
OLFML3	56944	broad.mit.edu	37	1	114524297	114524297	+	Missense_Mutation	SNP	G	G	A	rs561647873		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:114524297G>A	ENST00000320334.4	+	3	1201	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	OLFML3_ENST00000393300.2_Missense_Mutation_p.R356H|OLFML3_ENST00000369551.1_Missense_Mutation_p.R356H|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	376	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)		p.R376H(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		GCCAGCCTCCGCTATAACCCC	0.572																																					p.R376H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1127A	1						.						51.0	52.0	51.0					1																	114524297		2203	4300	6503	114325820	SO:0001583	missense	56944	exon3			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.1127G>A	1.37:g.114524297G>A	ENSP00000322273:p.Arg376His		114325820	NM_020190	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	CCDS870.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043693	0.55003	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.88975	-2.45;-2.45;-2.45	5.82	4.85	0.62838	Olfactomedin-like (3);	0.046772	0.85682	D	0.000000	T	0.77751	0.4177	N	0.14661	0.345	0.38094	D	0.937055	D;P	0.76494	0.999;0.503	P;B	0.58660	0.843;0.109	T	0.76545	-0.2920	10	0.22706	T	0.39	.	4.0604	0.09836	0.1798:0.0:0.6189:0.2013	.	356;376	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	H	356;376;356	ENSP00000358564:R356H;ENSP00000322273:R376H;ENSP00000376977:R356H	ENSP00000322273:R376H	R	+	2	0	OLFML3	114325820	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.976000	0.63785	2.745000	0.94114	0.561000	0.74099	CGC		0.572	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190	
DENND2C	163259	broad.mit.edu	37	1	115168197	115168197	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:115168197A>C	ENST00000393274.1	-	4	1034	c.409T>G	c.(409-411)Tca>Gca	p.S137A	DENND2C_ENST00000393277.1_Missense_Mutation_p.S137A|DENND2C_ENST00000393276.3_Missense_Mutation_p.S137A|DENND2C_ENST00000481894.1_5'Flank	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	137					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S137A(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GGAGGTAATGAAGTCTCTGGA	0.368																																					p.S137A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T409G	1						.						77.0	78.0	77.0					1																	115168197		2203	4300	6503	114969720	SO:0001583	missense	163259	exon2				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.409T>G	1.37:g.115168197A>C	ENSP00000376955:p.Ser137Ala		114969720	NM_198459	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	A	8.324	0.825059	0.16678	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.07908	3.78;3.79;3.15	5.66	1.68	0.24146	.	1.219660	0.06102	N	0.665592	T	0.01870	0.0059	L	0.36672	1.1	0.27645	N	0.947574	B;B	0.11235	0.004;0.002	B;B	0.14023	0.007;0.01	T	0.46693	-0.9173	10	0.14656	T	0.56	.	5.6909	0.17829	0.271:0.3163:0.0:0.4127	.	137;137	Q68D51;Q68D51-3	DEN2C_HUMAN;.	A	137	ENSP00000376957:S137A;ENSP00000376955:S137A;ENSP00000376958:S137A	ENSP00000358553:S137A	S	-	1	0	DENND2C	114969720	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.141000	0.16076	0.372000	0.24591	0.528000	0.53228	TCA		0.368	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
AMPD1	270	broad.mit.edu	37	1	115215796	115215796	+	Missense_Mutation	SNP	C	C	T	rs142643298	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:115215796C>T	ENST00000520113.2	-	16	2297	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	AMPD1_ENST00000369538.3_Missense_Mutation_p.R757H|AMPD1_ENST00000353928.6_Missense_Mutation_p.R728H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	761					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.R728H(1)		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)	GGTTTCATAGCGATAGGCCAT	0.383													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18312	0.0		0.0	False		,,,				2504	0.0				p.R761H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2282A	1						.	C	HIS/ARG,HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	86.0	80.0	82.0		2282,2270	5.5	1.0	1	dbSNP_134	82	0,8600		0,0,4300	yes	missense,missense	AMPD1	NM_000036.2,NM_001172626.1	29,29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging	761/781,757/777	115215796	5,13001	2203	4300	6503	115017319	SO:0001583	missense	270	exon16			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.2282G>A	1.37:g.115215796C>T	ENSP00000430075:p.Arg761His		115017319	NM_000036	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	33	5.217075	0.95104	0.001135	0.0	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.89617	-2.54;-2.54;-2.54	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.96540	0.8871	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97195	0.9860	10	0.87932	D	0	-15.2198	19.8167	0.96571	0.0:1.0:0.0:0.0	.	757;728	Q5TF02;P23109	.;AMPD1_HUMAN	H	761;757;728	ENSP00000430075:R761H;ENSP00000358551:R757H;ENSP00000316520:R728H	ENSP00000316520:R728H	R	-	2	0	AMPD1	115017319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.762000	0.94881	0.591000	0.81541	CGC		0.383	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
PTCHD2	57540	broad.mit.edu	37	1	11595163	11595163	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:11595163G>A	ENST00000294484.6	+	19	3769	c.3631G>A	c.(3631-3633)Gtg>Atg	p.V1211M	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R97H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1211M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1211					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.V1428M(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGCTGCCCGTGCTCCTCAG	0.682																																					p.V1211M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3631A	1						.						34.0	43.0	40.0					1																	11595163		2191	4276	6467	11517750	SO:0001583	missense	57540	exon19			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3631G>A	1.37:g.11595163G>A	ENSP00000294484:p.Val1211Met		11517750	NM_020780	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.85|18.85	3.711916|3.711916	0.68730|0.68730	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.92805	.|-3.11;-2.2	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.94245|0.94245	0.8152|0.8152	L|L	0.44542|0.44542	1.39|1.39	0.53688|0.53688	D|D	0.999972|0.999972	.|D	.|0.89917	.|1.0	.|D	.|0.71184	.|0.972	D|D	0.94281|0.94281	0.7520|0.7520	6|10	0.87932|0.52906	D|T	0|0.07	-24.6095|-24.6095	18.0998|18.0998	0.89503|0.89503	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1211	.|Q9P2K9	.|PTHD2_HUMAN	H|M	97|1211	.|ENSP00000294484:V1211M;ENSP00000374226:V1211M	ENSP00000303400:R97H|ENSP00000294484:V1211M	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11517750|11517750	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.977000|0.977000	0.68977|0.68977	6.201000|6.201000	0.72124|0.72124	2.523000|2.523000	0.85059|0.85059	0.491000|0.491000	0.48974|0.48974	CGT|GTG		0.682	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
CSDE1	7812	broad.mit.edu	37	1	115267948	115267948	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:115267948G>T	ENST00000358528.4	-	15	2073	c.1647C>A	c.(1645-1647)ttC>ttA	p.F549L	CSDE1_ENST00000369530.1_Missense_Mutation_p.F564L|CSDE1_ENST00000261443.5_Missense_Mutation_p.F518L|CSDE1_ENST00000438362.2_Missense_Mutation_p.F595L|CSDE1_ENST00000339438.6_Missense_Mutation_p.F518L|CSDE1_ENST00000534699.1_Missense_Mutation_p.F549L|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000530886.1_Missense_Mutation_p.F419L	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	549	CSD 7.				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.F549L(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)		CATCACCAGAGAACTCACTAA	0.408																																					p.F564L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1692A	1						.						163.0	152.0	156.0					1																	115267948		2203	4300	6503	115069471	SO:0001583	missense	7812	exon15				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.1647C>A	1.37:g.115267948G>T	ENSP00000351329:p.Phe549Leu		115069471	NM_001130523	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037080	0.54896	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.98	5.07	0.68467	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.298098	0.40469	N	0.001091	T	0.28599	0.0708	N	0.04787	-0.16	0.36542	D	0.871323	B;P;D	0.58268	0.001;0.508;0.982	B;P;D	0.68943	0.003;0.786;0.961	T	0.27706	-1.0066	9	0.19590	T	0.45	-7.106	11.3592	0.49633	0.138:0.0:0.862:0.0	.	564;549;595	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	L	518;595;549;518;419;564;549	.	ENSP00000261443:F518L	F	-	3	2	CSDE1	115069471	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.514000	0.45503	1.539000	0.49286	0.650000	0.86243	TTC		0.408	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
SLC22A15	55356	broad.mit.edu	37	1	116569517	116569517	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:116569517C>T	ENST00000369503.4	+	5	732	c.602C>T	c.(601-603)tCg>tTg	p.S201L	SLC22A15_ENST00000369502.1_Missense_Mutation_p.S201L	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	201					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.S201L(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAATTAGGATCGATTGGCGGC	0.498																																					p.S201L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C602T	1						.						224.0	208.0	213.0					1																	116569517		1962	4135	6097	116371040	SO:0001583	missense	55356	exon5			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.602C>T	1.37:g.116569517C>T	ENSP00000358515:p.Ser201Leu		116371040	NM_018420	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698299	0.68386	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76316	-1.01;0.11	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054615	0.85682	D	0.000000	T	0.64427	0.2597	L	0.31845	0.965	0.54753	D	0.999987	P;D	0.54964	0.66;0.969	B;B	0.44085	0.252;0.44	T	0.66404	-0.5932	10	0.38643	T	0.18	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	201;201	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	L	201	ENSP00000358515:S201L;ENSP00000358514:S201L	ENSP00000358514:S201L	S	+	2	0	SLC22A15	116371040	1.000000	0.71417	0.956000	0.39512	0.927000	0.56198	5.400000	0.66320	2.710000	0.92621	0.563000	0.77884	TCG		0.498	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420	
MAB21L3	126868	broad.mit.edu	37	1	116670831	116670831	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:116670831G>A	ENST00000369500.3	+	6	991	c.726G>A	c.(724-726)gaG>gaA	p.E242E	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	242								p.E242E(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TCCGTGCTGAGCAGGTGTTAC	0.483																																					p.E242E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G726A	1						.						85.0	87.0	86.0					1																	116670831		2203	4300	6503	116472354	SO:0001819	synonymous_variant	126868	exon6			AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.726G>A	1.37:g.116670831G>A			116472354	NM_152367	Q5TDL7	Silent	SNP	ENST00000369500.3	37	CCDS886.1																																																																																				0.483	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367	
CD101	9398	broad.mit.edu	37	1	117560946	117560946	+	Missense_Mutation	SNP	G	G	A	rs199631117		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:117560946G>A	ENST00000256652.4	+	6	1839	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	CD101_ENST00000369470.1_Missense_Mutation_p.R594Q	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	594	Ig-like C2-type 5.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R594Q(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGCTTATTCGAATCACCCAC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18567	0.001		0.0	False		,,,				2504	0.0				p.R594Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1781A	1						.	G	GLN/ARG	0,4406		0,0,2203	128.0	103.0	112.0		1781	-4.2	0.0	1		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD101	NM_004258.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	594/1022	117560946	1,13005	2203	4300	6503	117362469	SO:0001583	missense	9398	exon6			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1781G>A	1.37:g.117560946G>A	ENSP00000256652:p.Arg594Gln		117362469	NM_004258	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.764	0.142116	0.09083	0.0	1.16E-4	ENSG00000134256	ENST00000256652;ENST00000369470	D;D	0.94417	-3.42;-3.42	5.22	-4.15	0.03881	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.555780	0.03667	N	0.243406	T	0.76608	0.4011	L	0.28400	0.85	0.09310	N	1	B	0.34290	0.447	B	0.23275	0.045	T	0.74768	-0.3553	10	0.23302	T	0.38	-0.0604	7.4644	0.27314	0.6076:0.1439:0.2485:0.0	.	594	Q93033	IGSF2_HUMAN	Q	594	ENSP00000256652:R594Q;ENSP00000358482:R594Q	ENSP00000256652:R594Q	R	+	2	0	CD101	117362469	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-2.114000	0.01329	-0.639000	0.05502	-0.140000	0.14226	CGA		0.502	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
VTCN1	79679	broad.mit.edu	37	1	117699422	117699422	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:117699422C>T	ENST00000369458.3	-	3	297	c.219G>A	c.(217-219)aaG>aaA	p.K73K	VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000359008.4_Silent_p.K76K|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.K73K(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AAACACCTTCCTTCAGCCATT	0.483																																					p.K73K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G219A	1						.						126.0	114.0	118.0					1																	117699422		2203	4300	6503	117500945	SO:0001819	synonymous_variant	79679	exon3			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.219G>A	1.37:g.117699422C>T			117500945	NM_024626		Silent	SNP	ENST00000369458.3	37	CCDS894.1																																																																																				0.483	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
WDR3	10885	broad.mit.edu	37	1	118499758	118499758	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:118499758G>A	ENST00000349139.5	+	25	2568	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	841						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E841K(2)		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)		ACTCTTTAACGAATTCATTCA	0.388																																					p.E841K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2521A	1						.						189.0	189.0	189.0					1																	118499758		2203	4300	6503	118301281	SO:0001583	missense	10885	exon25			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.2521G>A	1.37:g.118499758G>A	ENSP00000308179:p.Glu841Lys		118301281	NM_006784		Missense_Mutation	SNP	ENST00000349139.5	37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	8.260	0.811079	0.16537	.	.	ENSG00000065183	ENST00000349139	T	0.51817	0.69	5.99	5.03	0.67393	.	0.427811	0.29119	N	0.013098	T	0.16128	0.0388	L	0.28649	0.875	0.28183	N	0.928066	B	0.25441	0.126	B	0.22753	0.041	T	0.07809	-1.0753	10	0.06365	T	0.9	-17.1943	16.0427	0.80695	0.0:0.2361:0.7639:0.0	.	841	Q9UNX4	WDR3_HUMAN	K	841	ENSP00000308179:E841K	ENSP00000308179:E841K	E	+	1	0	WDR3	118301281	0.674000	0.27549	0.413000	0.26509	0.900000	0.52787	2.443000	0.44881	2.836000	0.97738	0.609000	0.83330	GAA		0.388	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	
SPAG17	200162	broad.mit.edu	37	1	118516092	118516092	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:118516092G>T	ENST00000336338.5	-	44	6162	c.6097C>A	c.(6097-6099)Cat>Aat	p.H2033N	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2033						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.H2033N(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)		AGCAAATAATGAGGCAACTTC	0.418																																					p.H2033N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6097A	1						.						200.0	191.0	194.0					1																	118516092		2203	4300	6503	118317615	SO:0001583	missense	200162	exon44				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.6097C>A	1.37:g.118516092G>T	ENSP00000337804:p.His2033Asn		118317615	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	0.635	-0.815813	0.02776	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.16457	2.34	5.09	0.693	0.18056	.	0.867458	0.10103	N	0.715774	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.47824	-0.9087	10	0.18276	T	0.48	.	3.8559	0.08974	0.278:0.0:0.546:0.176	.	2033	Q6Q759	SPG17_HUMAN	N	2033;513	ENSP00000337804:H2033N	ENSP00000337804:H2033N	H	-	1	0	SPAG17	118317615	0.609000	0.26975	0.092000	0.20876	0.073000	0.16967	0.916000	0.28651	0.306000	0.22856	-0.300000	0.09419	CAT		0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118581924	118581924	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:118581924G>T	ENST00000336338.5	-	23	3375	c.3310C>A	c.(3310-3312)Ctt>Att	p.L1104I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1104						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.L1104I(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)		CCCGTTTCAAGACTTTGTTCC	0.368																																					p.L1104I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3310A	1						.						149.0	150.0	150.0					1																	118581924		2203	4300	6503	118383447	SO:0001583	missense	200162	exon23				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.3310C>A	1.37:g.118581924G>T	ENSP00000337804:p.Leu1104Ile		118383447	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	5.435	0.265426	0.10294	.	.	ENSG00000155761	ENST00000336338	T	0.24151	1.87	4.78	-7.11	0.01542	.	1.150800	0.06465	N	0.730098	T	0.03434	0.0099	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.34254	-0.9836	10	0.18276	T	0.48	.	1.2032	0.01889	0.3331:0.1028:0.1495:0.4146	.	1104	Q6Q759	SPG17_HUMAN	I	1104	ENSP00000337804:L1104I	ENSP00000337804:L1104I	L	-	1	0	SPAG17	118383447	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.886000	0.04157	-1.566000	0.01673	-0.136000	0.14681	CTT		0.368	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
AADACL3	126767	broad.mit.edu	37	1	12785272	12785272	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:12785272A>G	ENST00000359318.5	+	4	567	c.362A>G	c.(361-363)gAt>gGt	p.D121G	AADACL3_ENST00000332530.3_Missense_Mutation_p.D51G	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	121							hydrolase activity (GO:0016787)	p.D51G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCCCTGGATGCATATGGA	0.512																																					p.D51G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A152G	1						.						102.0	106.0	105.0					1																	12785272		1960	4158	6118	12707859	SO:0001583	missense	126767	exon3				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.362A>G	1.37:g.12785272A>G	ENSP00000352268:p.Asp121Gly		12707859	NM_001103169	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.710687	0.30322	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10099	2.91;2.91	5.2	4.07	0.47477	Alpha/beta hydrolase fold-3 (1);	0.699729	0.14230	N	0.332812	T	0.08935	0.0221	L	0.31420	0.93	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.15870	0.014;0.005	T	0.32052	-0.9921	10	0.29301	T	0.29	-3.9111	10.2887	0.43584	0.9217:0.0:0.0783:0.0	.	121;51	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	G	51;121	ENSP00000333352:D51G;ENSP00000352268:D121G	ENSP00000333352:D51G	D	+	2	0	AADACL3	12707859	0.080000	0.21391	0.003000	0.11579	0.160000	0.22226	3.943000	0.56621	0.813000	0.34350	0.397000	0.26171	GAT		0.512	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170	
PRAMEF1	65121	broad.mit.edu	37	1	12855608	12855608	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:12855608G>T	ENST00000332296.7	+	4	991	c.888G>T	c.(886-888)gaG>gaT	p.E296D	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.E51D	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	296					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.E296D(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCTTGGAGAACTTGGAAT	0.468																																					p.E296D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G888T	1						.						40.0	44.0	43.0					1																	12855608		2174	4266	6440	12778195	SO:0001583	missense	65121	exon4			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.888G>T	1.37:g.12855608G>T	ENSP00000332134:p.Glu296Asp		12778195	NM_023013	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	5.166	0.216272	0.09810	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.01119	5.31;5.31	1.56	-2.74	0.05932	.	0.271699	0.34067	N	0.004287	T	0.00906	0.0030	L	0.41824	1.3	0.09310	N	1	P	0.34934	0.476	B	0.34824	0.19	T	0.49093	-0.8975	10	0.25751	T	0.34	.	3.7613	0.08604	0.0:0.2186:0.2988:0.4826	.	296	O95521	PRAM1_HUMAN	D	296;51	ENSP00000332134:E296D;ENSP00000383616:E51D	ENSP00000332134:E296D	E	+	3	2	PRAMEF1	12778195	0.011000	0.17503	0.008000	0.14137	0.025000	0.11179	-0.036000	0.12185	-0.772000	0.04602	0.205000	0.17691	GAG		0.468	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013	
HNRNPCL1	343069	broad.mit.edu	37	1	12907644	12907644	+	Missense_Mutation	SNP	G	G	A	rs377179680		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:12907644G>A	ENST00000317869.6	-	2	724	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		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	167						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R167W(1)|p.R167R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GAAGATCCCCGCTTTCCACTC	0.478																																					p.R167W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C499T	1						.	G	TRP/ARG	1,4395		0,1,2197	138.0	151.0	146.0		499	-1.3	0.0	1		146	0,8586		0,0,4293	no	missense	HNRNPCL1	NM_001013631.1	101	0,1,6490	AA,AG,GG		0.0,0.0227,0.0077	benign	167/294	12907644	1,12981	2198	4293	6491	12830231	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.499C>T	1.37:g.12907644G>A	ENSP00000365370:p.Arg167Trp		12830231	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	4.379	0.069924	0.08436	2.27E-4	0.0	ENSG00000179172	ENST00000317869	T	0.12774	2.65	1.09	-1.29	0.09288	.	0.496408	0.16277	N	0.221530	T	0.13586	0.0329	M	0.79123	2.44	0.38199	D	0.94012	B	0.11235	0.004	B	0.01281	0.0	T	0.06881	-1.0802	10	0.54805	T	0.06	.	2.5765	0.04807	0.1902:0.0:0.3357:0.4741	.	167	O60812	HNRCL_HUMAN	W	167	ENSP00000365370:R167W	ENSP00000365370:R167W	R	-	1	2	HNRNPCL1	12830231	0.996000	0.38824	0.008000	0.14137	0.004000	0.04260	-0.125000	0.10579	-0.492000	0.06687	-1.648000	0.00760	CGG		0.478	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
PRAMEF7	441871	broad.mit.edu	37	1	12979861	12979861	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:12979861G>T	ENST00000361079.2	+	4	1136	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.Q351H(1)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCTGCAGACCCTGGACT	0.592																																					p.Q351H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1053T	1						.						30.0	26.0	28.0					1																	12979861		1518	3186	4704	12902448	SO:0001583	missense	391002	exon3				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1053G>T	1.37:g.12979861G>T	ENSP00000354371:p.Gln351His		12902448	NM_001012277	B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	12.36	1.913874	0.33815	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.11821	2.74;2.74	1.68	0.643	0.17770	.	1.053740	0.07400	N	0.890565	T	0.34629	0.0904	M	0.80847	2.515	0.09310	N	1	D	0.67145	0.996	D	0.63597	0.916	T	0.13926	-1.0491	10	0.87932	D	0	.	7.657	0.28381	0.0:0.2666:0.7334:0.0	.	351	Q5VXH5	PRAM7_HUMAN	H	351	ENSP00000354371:Q351H;ENSP00000328915:Q351H	ENSP00000328915:Q351H	Q	+	3	2	PRAMEF7	12902448	0.000000	0.05858	0.003000	0.11579	0.097000	0.18754	0.190000	0.17057	0.218000	0.20820	0.306000	0.20318	CAG		0.592	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277	
PRDM2	7799	broad.mit.edu	37	1	14059310	14059310	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:14059310A>C	ENST00000235372.7	+	4	1020	c.164A>C	c.(163-165)aAa>aCa	p.K55T	PRDM2_ENST00000311066.5_Missense_Mutation_p.K55T|PRDM2_ENST00000376048.5_Missense_Mutation_p.K55T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	55	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K55T(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAGGCAAAAAATTTGGGCCA	0.289																																					p.K55T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A164C	1						.						55.0	58.0	57.0					1																	14059310		2203	4294	6497	13931897	SO:0001583	missense	7799	exon4			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.164A>C	1.37:g.14059310A>C	ENSP00000235372:p.Lys55Thr		13931897	NM_012231	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323999	0.81580	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.99	5.99	0.97316	SET domain (2);	0.048080	0.85682	D	0.000000	D	0.89347	0.6689	L	0.56769	1.78	0.47037	D	0.999294	D;D;P	0.76494	0.999;0.999;0.952	D;D;D	0.79108	0.992;0.986;0.932	D	0.90102	0.4185	10	0.72032	D	0.01	.	15.3183	0.74099	1.0:0.0:0.0:0.0	.	55;55;55	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	T	55	ENSP00000423010:K55T;ENSP00000365216:K55T;ENSP00000235372:K55T;ENSP00000312352:K55T	ENSP00000235372:K55T	K	+	2	0	PRDM2	13931897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.306000	0.65756	2.291000	0.77112	0.533000	0.62120	AAA		0.289	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
HSD3B1	3283	broad.mit.edu	37	1	120056974	120056974	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:120056974C>T	ENST00000369413.3	+	4	973	c.828C>T	c.(826-828)ttC>ttT	p.F276F	HSD3B1_ENST00000235547.6_Silent_p.F278F|HSD3B1_ENST00000528909.1_Silent_p.F276F			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	276					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.F276F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GCAAAGAGTTCGGCCTCCGCC	0.473																																					p.F276F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C828T	1						.						90.0	94.0	93.0					1																	120056974		2203	4300	6503	119858497	SO:0001819	synonymous_variant	3283	exon4			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.828C>T	1.37:g.120056974C>T			119858497	NM_000862	A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	CCDS903.1																																																																																				0.473	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862	
ITGA10	8515	broad.mit.edu	37	1	145525080	145525080	+	Silent	SNP	C	C	T	rs372227737		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:145525080C>T	ENST00000369304.3	+	1	190	c.15C>T	c.(13-15)ttC>ttT	p.F5F	ITGA10_ENST00000538811.1_5'UTR|ITGA10_ENST00000539363.1_Silent_p.F5F	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	5					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.F5F(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACTCCCCTTCGTCACTCACC	0.493											OREG0013749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F5F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15T	1						.						255.0	210.0	225.0					1																	145525080		2203	4300	6503	144236437	SO:0001819	synonymous_variant	8515	exon1			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.15C>T	1.37:g.145525080C>T		1695	144236437	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	CCDS918.1																																																																																				0.493	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
ITGA10	8515	broad.mit.edu	37	1	145537442	145537442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:145537442C>T	ENST00000369304.3	+	20	2627	c.2452C>T	c.(2452-2454)Cga>Tga	p.R818*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R687*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R675*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	818					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R818*(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTTGTGGTTCGAGGTGGCCG	0.483																																					p.R818X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2452T	1						.						191.0	204.0	200.0					1																	145537442		2203	4300	6503	144248799	SO:0001587	stop_gained	8515	exon20			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2452C>T	1.37:g.145537442C>T	ENSP00000358310:p.Arg818*		144248799	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	39	7.475608	0.98306	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.07	5.07	0.68467	.	0.304399	0.31461	N	0.007601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.9866	0.80157	0.0:1.0:0.0:0.0	.	.	.	.	X	818;784;675;687	.	ENSP00000358310:R818X	R	+	1	2	ITGA10	144248799	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.195000	0.72088	2.645000	0.89757	0.655000	0.94253	CGA		0.483	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
ANKRD35	148741	broad.mit.edu	37	1	145560912	145560912	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:145560912G>T	ENST00000355594.4	+	9	856	c.769G>T	c.(769-771)Gat>Tat	p.D257Y	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	257								p.D257Y(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGCACCCAGATCTCGCATC	0.493																																					p.D257Y	Melanoma(9;127 754 22988 51047)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G769T	1						.						129.0	129.0	129.0					1																	145560912		2203	4300	6503	144272269	SO:0001583	missense	148741	exon9			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.769G>T	1.37:g.145560912G>T	ENSP00000347802:p.Asp257Tyr		144272269	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	9.001	0.980201	0.18812	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.68181	-0.31	5.39	3.53	0.40419	.	0.109271	0.40908	D	0.000994	T	0.40222	0.1108	L	0.32530	0.975	0.80722	D	1	P	0.34462	0.454	B	0.37692	0.256	T	0.45934	-0.9227	10	0.72032	D	0.01	-11.8613	7.5305	0.27681	0.0872:0.1658:0.7471:0.0	.	257	Q8N283	ANR35_HUMAN	Y	166;257	ENSP00000347802:D257Y	ENSP00000347802:D257Y	D	+	1	0	ANKRD35	144272269	0.822000	0.29219	0.806000	0.32338	0.312000	0.27988	1.232000	0.32636	0.849000	0.35215	-0.150000	0.13652	GAT		0.493	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
TARS2	80222	broad.mit.edu	37	1	150476857	150476857	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:150476857G>T	ENST00000369064.3	+	14	1698	c.1664G>T	c.(1663-1665)gGg>gTg	p.G555V	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.G473V|TARS2_ENST00000369054.2_Missense_Mutation_p.G425V	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	555					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.G555V(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CATCAGTGTGGGACAATTCAG	0.512																																					p.G555V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1664T	1						.						90.0	71.0	78.0					1																	150476857		2203	4300	6503	148743481	SO:0001583	missense	80222	exon14			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1664G>T	1.37:g.150476857G>T	ENSP00000358060:p.Gly555Val		148743481	NM_025150	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578781	0.86645	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.05	5.05	0.67936	Aminoacyl-tRNA synthetase, class II (1);	0.065653	0.64402	D	0.000008	T	0.77150	0.4088	M	0.89030	3	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69654	0.919;0.965;0.965	T	0.81284	-0.1002	9	0.87932	D	0	-12.192	12.9476	0.58382	0.0:0.163:0.837:0.0	.	425;280;555	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	V	425;555;280;280	.	ENSP00000358047:G280V	G	+	2	0	TARS2	148743481	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.426000	0.59882	2.634000	0.89283	0.655000	0.94253	GGG		0.512	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150	
FAM63A	55793	broad.mit.edu	37	1	150974652	150974652	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:150974652G>T	ENST00000361936.5	-	3	1396	c.442C>A	c.(442-444)Ctt>Att	p.L148I	FAM63A_ENST00000493834.2_Missense_Mutation_p.L53I|FAM63A_ENST00000361738.6_Missense_Mutation_p.L196I|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Missense_Mutation_p.L6I	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	148						extracellular vesicular exosome (GO:0070062)		p.L148I(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			TTCCACTGAAGAAAGAGGATG	0.478																																					p.L148I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C442A	1						.						161.0	143.0	149.0					1																	150974652		2203	4300	6503	149241276	SO:0001583	missense	55793	exon3			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.442C>A	1.37:g.150974652G>T	ENSP00000354814:p.Leu148Ile		149241276	NM_018379	B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	CCDS976.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590964	0.86851	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.74209	0.03;-0.73;-0.82;-0.49	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	D	0.83613	0.5292	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.99	D	0.85210	0.1020	10	0.87932	D	0	-21.9409	16.2281	0.82311	0.0:0.0:1.0:0.0	.	196;148	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	I	6;148;196;53	ENSP00000310923:L6I;ENSP00000354814:L148I;ENSP00000354669:L196I;ENSP00000437174:L53I	ENSP00000310923:L6I	L	-	1	0	FAM63A	149241276	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.120000	0.50430	2.680000	0.91292	0.655000	0.94253	CTT		0.478	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379	
FLG	2312	broad.mit.edu	37	1	152285839	152285839	+	Missense_Mutation	SNP	G	G	A	rs535401849		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:152285839G>A	ENST00000368799.1	-	3	1558	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	508	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.A508V(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)			CTCTTGGGACGCTGAATGCCT	0.602									Ichthyosis				-|||	1	0.000199681	0.0	0.0	5008	,	,		19336	0.001		0.0	False		,,,				2504	0.0				p.A508V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1523T	1						.						323.0	313.0	317.0					1																	152285839		2203	4300	6503	150552463	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.1523C>T	1.37:g.152285839G>A	ENSP00000357789:p.Ala508Val		150552463	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.055	0.766810	0.15983	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01821	4.62	3.4	-6.79	0.01715	.	.	.	.	.	T	0.00580	0.0019	L	0.47716	1.5	0.09310	N	1	P	0.42556	0.783	B	0.42555	0.391	T	0.28138	-1.0053	9	0.46703	T	0.11	.	1.7684	0.03007	0.1303:0.2189:0.3792:0.2716	.	508	P20930	FILA_HUMAN	V	508;40	ENSP00000357789:A508V	ENSP00000357789:A508V	A	-	2	0	FLG	150552463	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.947000	0.00680	-1.775000	0.01287	-2.189000	0.00312	GCG		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	broad.mit.edu	37	1	152326083	152326083	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:152326083T>C	ENST00000388718.5	-	3	4251	c.4179A>G	c.(4177-4179)ggA>ggG	p.G1393G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1393					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.G1393G(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)			CTCCTGTCTGTCCATAAGTAG	0.502																																					p.G1393G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4179G	1						.						225.0	209.0	214.0					1																	152326083		2203	4300	6503	150592707	SO:0001819	synonymous_variant	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.4179A>G	1.37:g.152326083T>C			150592707	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152329700	152329700	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:152329700G>T	ENST00000388718.5	-	3	634	c.562C>A	c.(562-564)Cat>Aat	p.H188N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	188	Ser-rich.				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.H188N(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)			CTCCATGAATGACCACAGCTG	0.478																																					p.H188N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562A	1						.						193.0	196.0	195.0					1																	152329700		2203	4300	6503	150596324	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.562C>A	1.37:g.152329700G>T	ENSP00000373370:p.His188Asn		150596324	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562340	0.13498	.	.	ENSG00000143520	ENST00000388718	T	0.00784	5.7	5.75	1.49	0.22878	.	.	.	.	.	T	0.00724	0.0024	L	0.54323	1.7	0.09310	N	1	D	0.71674	0.998	P	0.59115	0.852	T	0.53063	-0.8491	9	0.45353	T	0.12	-6.0272	4.1663	0.10308	0.2939:0.1698:0.5362:0.0	.	188	Q5D862	FILA2_HUMAN	N	188	ENSP00000373370:H188N	ENSP00000373370:H188N	H	-	1	0	FLG2	150596324	0.000000	0.05858	0.715000	0.30552	0.003000	0.03518	-0.424000	0.07025	0.329000	0.23460	0.650000	0.86243	CAT		0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
LCE2A	353139	broad.mit.edu	37	1	152671530	152671530	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:152671530C>T	ENST00000368779.1	+	2	204	c.153C>T	c.(151-153)tgC>tgT	p.C51C		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	51	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGGGCTGCTGCGGCTCCA	0.682																																					p.C51C												.	.	3	Deletion - In frame(2)|Substitution - coding silent(1)	liver(2)|large_intestine(1)	c.C153T	1						.						51.0	63.0	59.0					1																	152671530		2203	4300	6503	150938154	SO:0001819	synonymous_variant	353139	exon2				CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.153C>T	1.37:g.152671530C>T			150938154	NM_178428	A4QMZ9	Silent	SNP	ENST00000368779.1	37	CCDS1021.1																																																																																				0.682	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428	
KPRP	448834	broad.mit.edu	37	1	152732430	152732430	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:152732430C>T	ENST00000606109.1	+	1	394	c.366C>T	c.(364-366)tgC>tgT	p.C122C	KPRP_ENST00000368773.1_Silent_p.C122C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	122	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.C122C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTGCAGTGCGAAGCGTCAC	0.493																																					p.C122C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366T	1						.						263.0	249.0	254.0					1																	152732430		2203	4300	6503	150999054	SO:0001819	synonymous_variant	448834	exon2			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.366C>T	1.37:g.152732430C>T			150999054	NM_001025231		Silent	SNP	ENST00000606109.1	37	CCDS30862.1																																																																																				0.493	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
LCE1F	353137	broad.mit.edu	37	1	152749024	152749024	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:152749024C>T	ENST00000334371.2	+	1	177	c.177C>T	c.(175-177)tgC>tgT	p.C59C		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	59					keratinization (GO:0031424)			p.C59C(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGGGCTGCTGCAGCTCTG	0.677																																					p.C59C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	1						.						32.0	36.0	35.0					1																	152749024		2202	4300	6502	151015648	SO:0001819	synonymous_variant	353137	exon1				CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.177C>T	1.37:g.152749024C>T			151015648	NM_178354		Silent	SNP	ENST00000334371.2	37	CCDS1023.1																																																																																				0.677	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354	
S100A7	6278	broad.mit.edu	37	1	153431376	153431376	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:153431376C>A	ENST00000368723.3	-	2	224	c.114G>T	c.(112-114)gaG>gaT	p.E38D	S100A7_ENST00000368722.1_Missense_Mutation_p.E38D	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)	p.E38D(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGGAAGTTCTCCTTCATCA	0.473																																					p.E38D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G114T	1						.						231.0	198.0	209.0					1																	153431376		2203	4300	6503	151698000	SO:0001583	missense	6278	exon2			BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.114G>T	1.37:g.153431376C>A	ENSP00000357712:p.Glu38Asp		151698000	NM_002963	Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	8.451	0.853144	0.17106	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.09163	3.01;3.01	1.83	0.85	0.18980	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.01029	0.0034	N	0.04636	-0.2	0.20873	N	0.999837	B	0.12630	0.006	B	0.14578	0.011	T	0.48614	-0.9020	9	0.10377	T	0.69	.	5.6422	0.17571	0.3182:0.6818:0.0:0.0	.	38	P31151	S10A7_HUMAN	D	38	ENSP00000357712:E38D;ENSP00000357711:E38D	ENSP00000357711:E38D	E	-	3	2	S100A7	151698000	0.109000	0.22037	0.977000	0.42913	0.489000	0.33432	0.038000	0.13862	0.351000	0.24027	0.134000	0.15878	GAG		0.473	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963	
CRTC2	200186	broad.mit.edu	37	1	153926734	153926734	+	Missense_Mutation	SNP	C	C	T	rs377380520		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:153926734C>T	ENST00000368633.1	-	4	558	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	144					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)			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)			CACTTACCTTCGCCAGCTAGA	0.532																																					p.R144Q												.	.	0			c.G431A	1						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	46.0	41.0	43.0		431	4.9	1.0	1		43	0,8600		0,0,4300	no	missense	CRTC2	NM_181715.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	144/694	153926734	1,13005	2203	4300	6503	152193358	SO:0001583	missense	200186	exon4			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.431G>A	1.37:g.153926734C>T	ENSP00000357622:p.Arg144Gln		152193358	NM_181715	Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224630	0.95173	2.27E-4	0.0	ENSG00000160741	ENST00000368633	T	0.21031	2.03	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.31327	0.0793	L	0.60455	1.87	0.41581	D	0.988745	D	0.89917	1.0	D	0.67548	0.952	T	0.02821	-1.1106	10	0.72032	D	0.01	.	13.4248	0.61020	0.0:1.0:0.0:0.0	.	144	Q53ET0	CRTC2_HUMAN	Q	144	ENSP00000357622:R144Q	ENSP00000357622:R144Q	R	-	2	0	CRTC2	152193358	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.923000	0.75817	2.554000	0.86153	0.484000	0.47621	CGA		0.532	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715	
TPM3	7170	broad.mit.edu	37	1	154163745	154163745	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:154163745T>C	ENST00000368530.2	-	2	352	c.160A>G	c.(160-162)Aca>Gca	p.T54A	MIR190B_ENST00000401119.1_RNA|TPM3_ENST00000271850.7_Missense_Mutation_p.T54A	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	54					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)		p.T54A(1)	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCATCCTCTGTCCCTTTCAGC	0.493			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																p.T54A			Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A160G	1						.						119.0	120.0	120.0					1																	154163745		2181	4291	6472	152430369	SO:0001583	missense	7170	exon2			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.160A>G	1.37:g.154163745T>C	ENSP00000357516:p.Thr54Ala		152430369	NM_152263	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687708	0.88639	.	.	ENSG00000143549	ENST00000271850;ENST00000368530;ENST00000515609	D;D;D	0.87887	-2.31;-2.31;-2.31	6.02	6.02	0.97574	.	0.096917	0.64402	D	0.000001	T	0.82139	0.4972	M	0.67700	2.07	0.46078	D	0.998858	B	0.09022	0.002	B	0.22386	0.039	T	0.79943	-0.1590	10	0.51188	T	0.08	-2.2715	15.7232	0.77732	0.0:0.0:0.0:1.0	.	53	P06753	TPM3_HUMAN	A	54	ENSP00000271850:T54A;ENSP00000357516:T54A;ENSP00000426306:T54A	ENSP00000271850:T54A	T	-	1	0	TPM3	152430369	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.942000	0.87708	2.304000	0.77564	0.528000	0.53228	ACA		0.493	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263	
CHRNB2	1141	broad.mit.edu	37	1	154542794	154542794	+	Missense_Mutation	SNP	C	C	T	rs372273025		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:154542794C>T	ENST00000368476.3	+	4	580	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	106					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.R106W(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GAAGAAAGTTCGGCTCCCTTC	0.532																																					p.R106W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C316T	1						.	C	TRP/ARG	0,4406		0,0,2203	72.0	61.0	64.0		316	4.1	1.0	1		64	2,8598	2.2+/-6.3	0,2,4298	no	missense	CHRNB2	NM_000748.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	106/503	154542794	2,13004	2203	4300	6503	152809418	SO:0001583	missense	1141	exon4			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.316C>T	1.37:g.154542794C>T	ENSP00000357461:p.Arg106Trp		152809418	NM_000748	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649719	0.87958	0.0	2.33E-4	ENSG00000160716	ENST00000368476	T	0.80994	-1.44	5.03	4.13	0.48395	Neurotransmitter-gated ion-channel ligand-binding (3);	0.065344	0.64402	D	0.000013	D	0.90731	0.7091	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93129	0.6531	10	0.87932	D	0	.	13.0344	0.58862	0.0:0.9217:0.0:0.0783	.	106	P17787	ACHB2_HUMAN	W	106	ENSP00000357461:R106W	ENSP00000357461:R106W	R	+	1	2	CHRNB2	152809418	0.792000	0.28813	1.000000	0.80357	0.996000	0.88848	1.574000	0.36482	1.352000	0.45808	0.563000	0.77884	CGG		0.532	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748	
EFNA4	1945	broad.mit.edu	37	1	155041445	155041445	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:155041445C>T	ENST00000368409.3	+	4	679	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	EFNA3_ENST00000505139.1_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000359751.4_Intron|EFNA4_ENST00000427683.2_Intron	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	196					axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)	p.R196C(2)		breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTGATTCTTCGTCTTCTGCG	0.592																																					p.R196C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C586T	1						.						121.0	123.0	122.0					1																	155041445		2203	4300	6503	153308069	SO:0001583	missense	1945	exon4			AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"""Ephrins"""	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.586C>T	1.37:g.155041445C>T	ENSP00000357394:p.Arg196Cys		153308069	NM_005227	C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Missense_Mutation	SNP	ENST00000368409.3	37	CCDS1089.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757835	0.31137	.	.	ENSG00000243364	ENST00000368409	D	0.94232	-3.38	5.11	4.17	0.49024	.	0.205916	0.22529	N	0.058864	D	0.90435	0.7005	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90669	0.4596	10	0.44086	T	0.13	.	10.5627	0.45154	0.1922:0.8078:0.0:0.0	.	196	P52798	EFNA4_HUMAN	C	196	ENSP00000357394:R196C	ENSP00000357394:R196C	R	+	1	0	EFNA4	153308069	0.974000	0.33945	0.985000	0.45067	0.913000	0.54294	1.890000	0.39728	1.326000	0.45319	0.655000	0.94253	CGT		0.592	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085421.2	NM_005227	
ASH1L	55870	broad.mit.edu	37	1	155313186	155313186	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:155313186G>A	ENST00000368346.3	-	24	8866	c.8227C>T	c.(8227-8229)Cgg>Tgg	p.R2743W	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.R2738W			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2743	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R2738W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTGGCACCCGAAATAGTTCA	0.468																																					p.R2738W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8212T	1						.						130.0	125.0	127.0					1																	155313186		2203	4300	6503	153579810	SO:0001583	missense	55870	exon24			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8227C>T	1.37:g.155313186G>A	ENSP00000357330:p.Arg2743Trp		153579810	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	27.5	4.834631	0.91036	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.85339	-1.97;-1.97	5.3	4.38	0.52667	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88127	0.6353	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89999	0.4113	10	0.87932	D	0	.	15.0112	0.71552	0.0:0.0:0.8563:0.1437	.	2743;2738	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	W	2743;2738	ENSP00000357330:R2743W;ENSP00000376204:R2738W	ENSP00000357330:R2743W	R	-	1	2	ASH1L	153579810	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	5.503000	0.66962	1.440000	0.47531	0.561000	0.74099	CGG		0.468	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
ASH1L	55870	broad.mit.edu	37	1	155317516	155317516	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:155317516G>A	ENST00000368346.3	-	20	8388	c.7749C>T	c.(7747-7749)gaC>gaT	p.D2583D	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Silent_p.D2578D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2583					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D2578D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAATAACATCGTCGTCCTTCT	0.498																																					p.D2578D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7734T	1						.						292.0	233.0	253.0					1																	155317516		2203	4300	6503	153584140	SO:0001819	synonymous_variant	55870	exon20			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7749C>T	1.37:g.155317516G>A			153584140	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.498	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
GON4L	54856	broad.mit.edu	37	1	155736217	155736217	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:155736217A>G	ENST00000368331.1	-	21	3095	c.3047T>C	c.(3046-3048)tTc>tCc	p.F1016S	GON4L_ENST00000361040.5_Missense_Mutation_p.F1016S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.F1016S|GON4L_ENST00000271883.5_Missense_Mutation_p.F1016S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1016					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F1016S(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCCAGGGTTGAAGCTGGGCTG	0.562																																					p.F1016S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3047C	1						.						102.0	100.0	101.0					1																	155736217		2203	4300	6503	154002841	SO:0001583	missense	54856	exon21			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3047T>C	1.37:g.155736217A>G	ENSP00000357315:p.Phe1016Ser		154002841	NM_032292	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	A	0.217	-1.032150	0.02029	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.27	0.814	0.18756	.	0.828692	0.10761	N	0.637155	T	0.04952	0.0133	N	0.02802	-0.49	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.0;0.001	B;B;B;B	0.12156	0.005;0.007;0.002;0.004	T	0.42344	-0.9457	10	0.19147	T	0.46	.	4.364	0.11216	0.3866:0.3148:0.2986:0.0	.	1016;212;1016;1016	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	S	1016	ENSP00000396117:F1016S;ENSP00000357315:F1016S;ENSP00000271883:F1016S;ENSP00000354322:F1016S	ENSP00000271883:F1016S	F	-	2	0	GON4L	154002841	0.431000	0.25546	0.521000	0.27850	0.494000	0.33585	0.850000	0.27737	0.272000	0.22027	0.533000	0.62120	TTC		0.562	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
RXFP4	339403	broad.mit.edu	37	1	155911539	155911539	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:155911539C>A	ENST00000368318.3	+	1	60	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)	p.F13L(1)		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)					CACCCACATTCTTCTGGGCCA	0.567																																					p.F13L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C39A	1						.						196.0	177.0	183.0					1																	155911539		2203	4300	6503	154178163	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.39C>A	1.37:g.155911539C>A	ENSP00000357301:p.Phe13Leu		154178163	NM_181885	B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	CCDS1124.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240010	0.58995	.	.	ENSG00000173080	ENST00000368318	T	0.35789	1.29	3.44	3.44	0.39384	.	1.271890	0.05703	N	0.594533	T	0.06600	0.0169	N	0.03608	-0.345	0.31109	N	0.710148	B	0.02656	0.0	B	0.01281	0.0	T	0.09207	-1.0685	10	0.09590	T	0.72	-4.7273	12.5743	0.56355	0.0:1.0:0.0:0.0	.	13	Q8TDU9	RL3R2_HUMAN	L	13	ENSP00000357301:F13L	ENSP00000357301:F13L	F	+	3	2	RXFP4	154178163	0.003000	0.15002	0.571000	0.28486	0.807000	0.45602	1.314000	0.33597	1.777000	0.52277	0.449000	0.29647	TTC		0.567	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885	
ARHGEF2	9181	broad.mit.edu	37	1	155935126	155935126	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:155935126C>T	ENST00000361247.4	-	6	647	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R183Q|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R156Q|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R156Q|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R228Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R184Q|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	183					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R156Q(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGATAGGGTTCGGTTCCGCAT	0.592																																					p.R183Q	Melanoma(178;35 2768 6610 28839)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G548A	1						.						81.0	77.0	78.0					1																	155935126		2203	4300	6503	154201750	SO:0001583	missense	9181	exon6			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.548G>A	1.37:g.155935126C>T	ENSP00000354837:p.Arg183Gln		154201750	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703084	0.68501	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.64618	-0.1;0.02;0.03;-0.1;-0.11	5.62	5.62	0.85841	.	0.000000	0.40064	N	0.001197	T	0.66277	0.2773	L	0.45581	1.43	0.36510	D	0.869513	B;P;D;B	0.89917	0.32;0.627;1.0;0.449	B;B;D;B	0.77557	0.056;0.124;0.99;0.167	T	0.62081	-0.6929	10	0.26408	T	0.33	-11.064	17.1566	0.86793	0.0:1.0:0.0:0.0	.	228;228;183;183	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	Q	156;183;184;156;228;156;183	ENSP00000315325:R156Q;ENSP00000354837:R183Q;ENSP00000357298:R184Q;ENSP00000357299:R156Q;ENSP00000314787:R183Q	ENSP00000314787:R183Q	R	-	2	0	ARHGEF2	154201750	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.610000	0.67668	2.661000	0.90470	0.650000	0.86243	CGA		0.592	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723	
SEMA4A	64218	broad.mit.edu	37	1	156146732	156146732	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:156146732A>G	ENST00000368285.3	+	15	2497	c.2230A>G	c.(2230-2232)Acc>Gcc	p.T744A	SEMA4A_ENST00000368282.1_Missense_Mutation_p.T744A|SEMA4A_ENST00000368284.1_Missense_Mutation_p.T612A|SEMA4A_ENST00000355014.2_Missense_Mutation_p.T744A|SEMA4A_ENST00000368286.2_Missense_Mutation_p.T612A	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	744					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T744A(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GGAATGCAGGACCTCTGCCAG	0.627																																					p.T744A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2230G	1						.						51.0	47.0	48.0					1																	156146732		2203	4300	6503	154413356	SO:0001583	missense	64218	exon15			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.2230A>G	1.37:g.156146732A>G	ENSP00000357268:p.Thr744Ala		154413356	NM_022367	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	a	9.661	1.144146	0.21205	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	4.97	-0.488	0.12056	.	7.943630	0.00166	N	0.000000	T	0.50667	0.1629	M	0.63428	1.95	0.25391	N	0.988525	B;B	0.34015	0.02;0.435	B;B	0.30401	0.012;0.115	T	0.18840	-1.0324	10	0.19147	T	0.46	.	4.3718	0.11251	0.3904:0.3326:0.277:0.0	.	612;744	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	A	744;744;612;706;706;612;744	ENSP00000347117:T744A;ENSP00000357268:T744A;ENSP00000357267:T612A;ENSP00000357269:T612A;ENSP00000357265:T744A	ENSP00000347117:T744A	T	+	1	0	SEMA4A	154413356	0.997000	0.39634	0.842000	0.33263	0.345000	0.29048	0.342000	0.19926	-0.031000	0.13781	0.255000	0.18592	ACC		0.627	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	
SMG5	23381	broad.mit.edu	37	1	156247748	156247748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:156247748C>A	ENST00000361813.5	-	3	409	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	SMG5_ENST00000368267.5_Nonsense_Mutation_p.E89*	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	89					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.E89*(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)					TGGATAACTTCATAGTATACC	0.498																																					p.E89X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G265T	1						.						179.0	175.0	176.0					1																	156247748		2203	4300	6503	154514372	SO:0001587	stop_gained	23381	exon3			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.265G>T	1.37:g.156247748C>A	ENSP00000355261:p.Glu89*		154514372	NM_015327	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Nonsense_Mutation	SNP	ENST00000361813.5	37	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	37	6.535932	0.97646	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	.	.	.	5.46	5.46	0.80206	.	0.049111	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-26.421	18.0678	0.89396	0.0:1.0:0.0:0.0	.	.	.	.	X	89	.	ENSP00000355261:E89X	E	-	1	0	SMG5	154514372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.430000	0.80321	2.840000	0.97914	0.655000	0.94253	GAA		0.498	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327	
IQGAP3	128239	broad.mit.edu	37	1	156510582	156510582	+	Missense_Mutation	SNP	C	C	T	rs367772740		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:156510582C>T	ENST00000361170.2	-	23	2667	c.2657G>A	c.(2656-2658)cGa>cAa	p.R886Q	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	886					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.R886Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGATTGGATCGGATCTTCCT	0.532																																					p.R886Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2657A	1						.	C	GLN/ARG	0,4406		0,0,2203	165.0	132.0	143.0		2657	5.0	1.0	1		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	IQGAP3	NM_178229.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	886/1632	156510582	1,13005	2203	4300	6503	154777206	SO:0001583	missense	128239	exon23			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2657G>A	1.37:g.156510582C>T	ENSP00000354451:p.Arg886Gln		154777206	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726522	0.96847	0.0	1.16E-4	ENSG00000183856	ENST00000361170	T	0.03580	3.88	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	M	0.80746	2.51	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	T	0.00286	-1.1847	10	0.87932	D	0	-26.4886	15.8891	0.79279	0.0:1.0:0.0:0.0	.	886	Q86VI3	IQGA3_HUMAN	Q	886	ENSP00000354451:R886Q	ENSP00000354451:R886Q	R	-	2	0	IQGAP3	154777206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.601000	0.87937	0.655000	0.94253	CGA		0.532	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
IQGAP3	128239	broad.mit.edu	37	1	156533432	156533432	+	Missense_Mutation	SNP	C	C	T	rs200764066		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:156533432C>T	ENST00000361170.2	-	7	542	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	178					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGGCCAGTTCGGACGCCATG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20633	0.0		0.001	False		,,,				2504	0.0				p.E178K												.	.	0			c.G532A	1						.						59.0	55.0	56.0					1																	156533432		2203	4300	6503	154800056	SO:0001583	missense	128239	exon7			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.532G>A	1.37:g.156533432C>T	ENSP00000354451:p.Glu178Lys		154800056	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.694337	0.96793	.	.	ENSG00000183856	ENST00000361170	T	0.42131	0.98	5.55	5.55	0.83447	Calponin homology domain (2);	0.120287	0.53938	D	0.000047	T	0.67832	0.2935	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.73597	-0.3932	10	0.52906	T	0.07	-16.6969	18.0841	0.89452	0.0:1.0:0.0:0.0	.	178	Q86VI3	IQGA3_HUMAN	K	178	ENSP00000354451:E178K	ENSP00000354451:E178K	E	-	1	0	IQGAP3	154800056	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.779000	0.85648	2.610000	0.88304	0.561000	0.74099	GAA		0.602	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
LRRC71	149499	broad.mit.edu	37	1	156899448	156899448	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:156899448G>T	ENST00000337428.7	+	11	1321	c.1167G>T	c.(1165-1167)gaG>gaT	p.E389D	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	389								p.E389D(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGAAAGAGGAGAAGTTGGGGT	0.587																																					p.E389D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1167T	1						.						36.0	41.0	40.0					1																	156899448		1900	4117	6017	155166072	SO:0001583	missense	149499	exon11			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1167G>T	1.37:g.156899448G>T	ENSP00000336661:p.Glu389Asp		155166072	NM_144702	Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542400	0.45280	.	.	ENSG00000160838	ENST00000337428	T	0.22134	1.97	4.23	4.23	0.50019	.	0.000000	0.49916	D	0.000137	T	0.18509	0.0444	L	0.34521	1.04	0.36620	D	0.875727	P;D	0.67145	0.948;0.996	B;D	0.72625	0.332;0.978	T	0.03148	-1.1067	10	0.16420	T	0.52	-35.1441	11.9873	0.53155	0.0:0.0:1.0:0.0	.	389;174	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	D	389	ENSP00000336661:E389D	ENSP00000336661:E389D	E	+	3	2	LRRC71	155166072	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	2.505000	0.45424	2.166000	0.68216	0.655000	0.94253	GAG		0.587	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702	
ARHGEF11	9826	broad.mit.edu	37	1	156916474	156916474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:156916474G>A	ENST00000361409.2	-	27	3296	c.2554C>T	c.(2554-2556)Cga>Tga	p.R852*	ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.R892*|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Nonsense_Mutation_p.R268*	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	852	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R892*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCTGGAATCGACTCTCCTTG	0.537																																					p.R892X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2674T	1						.						186.0	194.0	192.0					1																	156916474		2203	4300	6503	155183098	SO:0001587	stop_gained	9826	exon28			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2554C>T	1.37:g.156916474G>A	ENSP00000354644:p.Arg852*		155183098	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Nonsense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	47	13.878243	0.99768	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	.	.	.	5.54	5.54	0.83059	.	0.000000	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5589	19.2713	0.94011	0.0:0.0:1.0:0.0	.	.	.	.	X	892;852;268	.	ENSP00000313470:R268X	R	-	1	2	ARHGEF11	155183098	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	6.369000	0.73109	2.890000	0.99128	0.650000	0.86243	CGA		0.537	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
FCRL5	83416	broad.mit.edu	37	1	157516962	157516962	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:157516962G>T	ENST00000361835.3	-	3	235	c.78C>A	c.(76-78)ttC>ttA	p.F26L	FCRL5_ENST00000368190.3_Missense_Mutation_p.F26L|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.F26L|FCRL5_ENST00000368189.3_Missense_Mutation_p.F26L|FCRL5_ENST00000356953.4_Missense_Mutation_p.F26L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	26	Ig-like C2-type 1.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.F26L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGGCTGGAGGAAAATAATGG	0.537																																					p.F26L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C78A	1						.						117.0	111.0	113.0					1																	157516962		2203	4300	6503	155783586	SO:0001583	missense	83416	exon3			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.78C>A	1.37:g.157516962G>T	ENSP00000354691:p.Phe26Leu		155783586	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	1.904	-0.452361	0.04540	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1	5.01	3.13	0.36017	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00580	0.0019	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.18741	0.001;0.002;0.03;0.0	B;B;B;B	0.23018	0.007;0.012;0.043;0.004	T	0.45056	-0.9287	9	0.10377	T	0.69	.	6.862	0.24072	0.2069:0.0:0.7931:0.0	.	26;26;26;26	Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;FCRL5_HUMAN	L	26	ENSP00000354691:F26L;ENSP00000349434:F26L;ENSP00000357173:F26L;ENSP00000357172:F26L;ENSP00000357171:F26L	ENSP00000349434:F26L	F	-	3	2	FCRL5	155783586	0.011000	0.17503	0.026000	0.17262	0.080000	0.17528	-0.396000	0.07278	1.116000	0.41820	0.650000	0.86243	TTC		0.537	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
OR10Z1	128368	broad.mit.edu	37	1	158576534	158576534	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158576534C>A	ENST00000361284.1	+	1	306	c.306C>A	c.(304-306)ttC>ttA	p.F102L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F102L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCCAGATGTTCTTTTCTGCCT	0.557																																					p.F102L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C306A	1						.						159.0	164.0	163.0					1																	158576534		2203	4299	6502	156843158	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.306C>A	1.37:g.158576534C>A	ENSP00000354707:p.Phe102Leu		156843158	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588949	0.46110	.	.	ENSG00000198967	ENST00000361284	T	0.00397	7.57	5.36	0.797	0.18654	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000637	T	0.00144	0.0004	M	0.72576	2.205	0.29090	N	0.88216	B	0.17268	0.021	B	0.15870	0.014	T	0.42599	-0.9442	10	0.56958	D	0.05	.	8.7187	0.34428	0.0:0.4262:0.0:0.5738	.	102	Q8NGY1	O10Z1_HUMAN	L	102	ENSP00000354707:F102L	ENSP00000354707:F102L	F	+	3	2	OR10Z1	156843158	0.046000	0.20272	0.998000	0.56505	0.977000	0.68977	0.016000	0.13377	-0.010000	0.14271	0.655000	0.94253	TTC		0.557	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
SPTA1	6708	broad.mit.edu	37	1	158607947	158607947	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158607947C>A	ENST00000368147.4	-	36	5245	c.5065G>T	c.(5065-5067)Gat>Tat	p.D1689Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1689					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.D1689Y(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)					TTGACATTATCTTTTTTCTTC	0.443																																					p.D1689Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5065T	1						.						98.0	91.0	93.0					1																	158607947		1888	4111	5999	156874571	SO:0001583	missense	6708	exon36			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.5065G>T	1.37:g.158607947C>A	ENSP00000357129:p.Asp1689Tyr		156874571	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688376	0.29962	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52754	0.65;1.16	5.36	0.19	0.15125	.	1.061000	0.07553	N	0.915830	T	0.42585	0.1209	L	0.58101	1.795	0.19300	N	0.999978	D	0.55800	0.973	P	0.62649	0.905	T	0.23476	-1.0187	10	0.66056	D	0.02	.	5.8794	0.18846	0.0:0.5801:0.1304:0.2895	.	1689	P02549	SPTA1_HUMAN	Y	1689	ENSP00000357130:D1689Y;ENSP00000357129:D1689Y	ENSP00000357129:D1689Y	D	-	1	0	SPTA1	156874571	0.376000	0.25098	0.000000	0.03702	0.002000	0.02628	0.992000	0.29667	-0.106000	0.12110	0.591000	0.81541	GAT		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158626408	158626408	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158626408G>A	ENST00000368147.4	-	20	3024	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	948					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.L948L(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)					CAAATGAATTGAGATCTAATA	0.408																																					p.L948L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2844T	1						.						169.0	170.0	169.0					1																	158626408		1846	4084	5930	156893032	SO:0001819	synonymous_variant	6708	exon20			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.2844C>T	1.37:g.158626408G>A			156893032	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158653269	158653269	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158653269A>C	ENST00000368147.4	-	3	462	c.282T>G	c.(280-282)caT>caG	p.H94Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	94					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.H94Q(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)					CAAGGGATTGATGCTTCTGAT	0.403																																					p.H94Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T282G	1						.						199.0	176.0	183.0					1																	158653269		1859	4101	5960	156919893	SO:0001583	missense	6708	exon3			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.282T>G	1.37:g.158653269A>C	ENSP00000357129:p.His94Gln		156919893	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426855	0.62733	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.60424	0.19;0.19	6.17	-1.78	0.07957	.	0.252930	0.20699	N	0.087305	T	0.58581	0.2132	L	0.56340	1.77	0.45066	D	0.998083	D	0.57899	0.981	D	0.74674	0.984	T	0.65203	-0.6225	10	0.87932	D	0	.	14.291	0.66278	0.3884:0.0:0.6116:0.0	.	94	P02549	SPTA1_HUMAN	Q	94	ENSP00000357130:H94Q;ENSP00000357129:H94Q	ENSP00000357129:H94Q	H	-	3	2	SPTA1	156919893	0.999000	0.42202	0.020000	0.16555	0.786000	0.44442	0.690000	0.25451	-0.557000	0.06126	-0.408000	0.06270	CAT		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
OR6K6	128371	broad.mit.edu	37	1	158724816	158724816	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158724816C>A	ENST00000368144.2	+	1	307	c.211C>A	c.(211-213)Cta>Ata	p.L71I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L71I(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AACTGGAAACCTAATAATGTT	0.463																																					p.L71I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211A	1						.						186.0	180.0	182.0					1																	158724816		2203	4300	6503	156991440	SO:0001583	missense	128371	exon1			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.211C>A	1.37:g.158724816C>A	ENSP00000357126:p.Leu71Ile		156991440	NM_001005184	B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	5.681	0.310238	0.10733	.	.	ENSG00000180433	ENST00000368144	T	0.00433	7.43	5.21	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32218	N	0.006416	T	0.00109	0.0003	L	0.49699	1.58	0.09310	N	1	P	0.47841	0.901	B	0.41646	0.362	T	0.27502	-1.0072	10	0.35671	T	0.21	-4.8907	3.5161	0.07726	0.1767:0.5345:0.0:0.2888	.	71	Q8NGW6	OR6K6_HUMAN	I	71	ENSP00000357126:L71I	ENSP00000357126:L71I	L	+	1	2	OR6K6	156991440	0.000000	0.05858	0.048000	0.18961	0.070000	0.16714	-1.642000	0.02006	0.758000	0.33059	-0.137000	0.14449	CTA		0.463	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184	
OR6N1	128372	broad.mit.edu	37	1	158735682	158735682	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158735682T>C	ENST00000335094.2	-	1	810	c.791A>G	c.(790-792)aAg>aGg	p.K264R		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K264R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGAGTAGCTCTTCTTCAGCTG	0.542																																					p.K264R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A791G	1						.						183.0	171.0	175.0					1																	158735682		2203	4300	6503	157002306	SO:0001583	missense	128372	exon1			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.791A>G	1.37:g.158735682T>C	ENSP00000335535:p.Lys264Arg		157002306	NM_001005185	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496322	0.26861	.	.	ENSG00000197403	ENST00000335094	T	0.00137	8.68	4.74	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.424962	0.19838	N	0.104922	T	0.00039	0.0001	N	0.12920	0.275	0.19300	N	0.999977	P	0.45283	0.855	P	0.44447	0.45	T	0.00013	-1.2417	10	0.87932	D	0	-8.8113	4.8697	0.13625	0.0:0.1708:0.1576:0.6716	.	264	Q8NGY5	OR6N1_HUMAN	R	264	ENSP00000335535:K264R	ENSP00000335535:K264R	K	-	2	0	OR6N1	157002306	0.000000	0.05858	0.978000	0.43139	0.111000	0.19643	-0.138000	0.10374	0.304000	0.22809	0.533000	0.62120	AAG		0.542	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
OR6N1	128372	broad.mit.edu	37	1	158735966	158735966	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158735966A>G	ENST00000335094.2	-	1	526	c.507T>C	c.(505-507)tgT>tgC	p.C169C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C169C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GATTGGGGCCACAGAATGGGA	0.473																																					p.C169C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T507C	1						.						83.0	86.0	85.0					1																	158735966		2203	4300	6503	157002590	SO:0001819	synonymous_variant	128372	exon1			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.507T>C	1.37:g.158735966A>G			157002590	NM_001005185	Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	CCDS30905.1																																																																																				0.473	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
OR6N2	81442	broad.mit.edu	37	1	158747185	158747185	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158747185T>G	ENST00000339258.1	-	1	240	c.241A>C	c.(241-243)Atg>Ctg	p.M81L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M81L(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTAGACAACATCTTAGGGATA	0.453																																					p.M81L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A241C	1						.						157.0	150.0	152.0					1																	158747185		2203	4300	6503	157013809	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.241A>C	1.37:g.158747185T>G	ENSP00000344101:p.Met81Leu		157013809	NM_001005278	Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451373	0.43531	.	.	ENSG00000188340	ENST00000339258	T	0.04862	3.54	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000274	T	0.07503	0.0189	L	0.41236	1.265	0.28746	N	0.901708	D	0.54964	0.969	D	0.67103	0.949	T	0.09207	-1.0685	10	0.51188	T	0.08	-24.0614	9.506	0.39046	0.1577:0.0:0.0:0.8423	.	81	Q8NGY6	OR6N2_HUMAN	L	81	ENSP00000344101:M81L	ENSP00000344101:M81L	M	-	1	0	OR6N2	157013809	0.000000	0.05858	1.000000	0.80357	0.911000	0.54048	-0.295000	0.08298	2.169000	0.68431	0.528000	0.53228	ATG		0.453	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
MNDA	4332	broad.mit.edu	37	1	158811963	158811963	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:158811963A>C	ENST00000368141.4	+	2	281	c.20A>C	c.(19-21)aAa>aCa	p.K7T	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	7	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K7T(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GAATACAAGAAAATTCTTTTG	0.303																																					p.K7T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A20C	1						.						59.0	59.0	59.0					1																	158811963		2203	4300	6503	157078587	SO:0001583	missense	4332	exon2			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.20A>C	1.37:g.158811963A>C	ENSP00000357123:p.Lys7Thr		157078587	NM_002432		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.723794	0.30593	.	.	ENSG00000163563	ENST00000368141	T	0.50813	0.73	3.51	-0.243	0.13035	Pyrin (2);	.	.	.	.	T	0.25005	0.0607	L	0.41824	1.3	0.09310	N	1	P	0.38582	0.638	P	0.47015	0.534	T	0.24764	-1.0151	9	0.51188	T	0.08	-6.3766	5.8791	0.18846	0.5926:0.0:0.4074:0.0	.	7	P41218	MNDA_HUMAN	T	7	ENSP00000357123:K7T	ENSP00000357123:K7T	K	+	2	0	MNDA	157078587	0.000000	0.05858	0.035000	0.18076	0.016000	0.09150	-1.376000	0.02561	-0.163000	0.10946	-0.379000	0.06801	AAA		0.303	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
CADM3	57863	broad.mit.edu	37	1	159169585	159169585	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:159169585A>G	ENST00000368125.4	+	8	1154	c.997A>G	c.(997-999)Atc>Gtc	p.I333V	CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.I367V|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	333					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.I367V(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)					CCACGCCATCATCGGTGGGAT	0.547																																					p.I367V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1099G	1						.						167.0	132.0	144.0					1																	159169585		2203	4300	6503	157436209	SO:0001583	missense	57863	exon9			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.997A>G	1.37:g.159169585A>G	ENSP00000357107:p.Ile333Val		157436209	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.549615	0.65311	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.57273	0.43;0.41	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	L	0.58669	1.825	0.58432	D	0.999996	D;D	0.63046	0.992;0.978	D;D	0.81914	0.995;0.968	T	0.55573	-0.8120	10	0.31617	T	0.26	.	12.0332	0.53410	1.0:0.0:0.0:0.0	.	333;367	Q8N126;Q8N126-2	CADM3_HUMAN;.	V	367;333	ENSP00000357106:I367V;ENSP00000357107:I333V	ENSP00000357106:I367V	I	+	1	0	CADM3	157436209	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.597000	0.67577	1.949000	0.56562	0.482000	0.46254	ATC		0.547	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
OR10J3	441911	broad.mit.edu	37	1	159283608	159283608	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:159283608T>C	ENST00000332217.5	-	1	841	c.842A>G	c.(841-843)cAt>cGt	p.H281R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H281R(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)					AGGGGAGTGATGAGTGTAGGT	0.512																																					p.H281R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A842G	1						.						128.0	111.0	117.0					1																	159283608		2203	4300	6503	157550232	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.842A>G	1.37:g.159283608T>C	ENSP00000331789:p.His281Arg		157550232	NM_001004467		Missense_Mutation	SNP	ENST00000332217.5	37	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080320	0.36662	.	.	ENSG00000196266	ENST00000332217	T	0.00076	8.76	5.34	4.2	0.49525	.	62.804000	0.00948	U	0.002928	T	0.00039	0.0001	N	0.19112	0.55	0.21967	N	0.999445	B	0.06786	0.001	B	0.08055	0.003	T	0.49934	-0.8886	10	0.87932	D	0	.	9.739	0.40406	0.0:0.0:0.3381:0.6619	.	281	Q5JRS4	O10J3_HUMAN	R	281	ENSP00000331789:H281R	ENSP00000331789:H281R	H	-	2	0	OR10J3	157550232	0.003000	0.15002	1.000000	0.80357	0.970000	0.65996	-1.037000	0.03557	1.017000	0.39495	0.533000	0.62120	CAT		0.512	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1		
OR10J1	26476	broad.mit.edu	37	1	159410062	159410062	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:159410062A>G	ENST00000423932.3	+	1	551	c.514A>G	c.(514-516)Aca>Gca	p.T172A	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	172					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.T172A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACGCAAGTGACATCTGTATT	0.498																																					p.T172A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A514G	1						.						180.0	165.0	170.0					1																	159410062		2203	4300	6503	157676686	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.514A>G	1.37:g.159410062A>G	ENSP00000399078:p.Thr172Ala		157676686	NM_012351	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.298383	0.00243	.	.	ENSG00000196184	ENST00000423932	T	0.36157	1.27	4.19	-2.0	0.07433	GPCR, rhodopsin-like superfamily (1);	2.468040	0.02012	N	0.047104	T	0.06188	0.0160	N	0.11789	0.175	0.09310	N	1	B	0.12630	0.006	B	0.17979	0.02	T	0.14227	-1.0480	10	0.17832	T	0.49	.	5.9562	0.19275	0.2634:0.0:0.0876:0.649	.	172	P30954	O10J1_HUMAN	A	172	ENSP00000399078:T172A	ENSP00000399078:T172A	T	+	1	0	OR10J1	157676686	0.000000	0.05858	0.012000	0.15200	0.111000	0.19643	-1.776000	0.01781	-0.502000	0.06596	-0.258000	0.10820	ACA		0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351	
CFAP45	25790	broad.mit.edu	37	1	159846422	159846422	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:159846422C>T	ENST00000368099.4	-	10	1340	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	CCDC19_ENST00000426543.2_Missense_Mutation_p.E341K|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.E426K(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCCACCTGTTCGAGCCGACTT	0.567																																					p.E426K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1276A	1						.						117.0	95.0	102.0					1																	159846422		2203	4300	6503	158113046	SO:0001583	missense	25790	exon10																														ENST00000368099.4:c.1276G>A	1.37:g.159846422C>T	ENSP00000357079:p.Glu426Lys		158113046	NM_012337		Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	c	19.05	3.751697	0.69533	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11495	2.77;2.77	5.16	5.16	0.70880	.	0.103041	0.64402	D	0.000005	T	0.06234	0.0161	L	0.38692	1.165	0.80722	D	1	P	0.48407	0.91	B	0.43194	0.411	T	0.37267	-0.9713	9	.	.	.	-13.1185	16.5314	0.84361	0.0:1.0:0.0:0.0	.	426	Q9UL16	CCD19_HUMAN	K	426;341	ENSP00000357079:E426K;ENSP00000403044:E341K	.	E	-	1	0	CCDC19	158113046	1.000000	0.71417	0.140000	0.22221	0.734000	0.41952	3.732000	0.55021	2.571000	0.86741	0.486000	0.48141	GAA		0.567	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
ATP1A2	477	broad.mit.edu	37	1	160106794	160106794	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:160106794G>A	ENST00000361216.3	+	20	2902	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R938H	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	938					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.R938H(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)			AAGACCCGCCGCAACTCAGTC	0.602																																					p.R938H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2813A	1						.						132.0	118.0	123.0					1																	160106794		2203	4300	6503	158373418	SO:0001583	missense	477	exon20			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.2813G>A	1.37:g.160106794G>A	ENSP00000354490:p.Arg938His		158373418	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.922084|4.922084	0.92319|0.92319	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.89050	.|-2.46;-2.46	4.46|4.46	4.46|4.46	0.54185|0.54185	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95284|0.95284	0.8470|0.8470	H|H	0.95187|0.95187	3.635|3.635	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.998;0.999	.|P;D	.|0.64687	.|0.881;0.928	D|D	0.96281|0.96281	0.9206|0.9206	5|10	.|0.87932	.|D	.|0	.|.	15.018|15.018	0.71600|0.71600	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|838;938	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	T|H	632|938;938;641	.|ENSP00000354490:R938H;ENSP00000376066:R938H	.|ENSP00000354490:R938H	A|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158373418|158373418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.772000|7.772000	0.85439|0.85439	2.459000|2.459000	0.83118|0.83118	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A4	480	broad.mit.edu	37	1	160151806	160151806	+	Missense_Mutation	SNP	G	G	A	rs376262146		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:160151806G>A	ENST00000368081.4	+	20	3425	c.2954G>A	c.(2953-2955)cGa>cAa	p.R985Q	ATP1A4_ENST00000470705.1_Missense_Mutation_p.R121Q|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	985					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.R985Q(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)			GTGGCCCTGCGAATGTACCCA	0.507																																					p.R985Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2954A	1						.						96.0	90.0	92.0					1																	160151806		2203	4300	6503	158418430	SO:0001583	missense	480	exon20			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.2954G>A	1.37:g.160151806G>A	ENSP00000357060:p.Arg985Gln		158418430	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618897	0.66787	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.88124	-2.34;-2.34	4.26	4.26	0.50523	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	T	0.76835	0.4043	M	0.67569	2.06	0.44995	D	0.998016	P	0.44816	0.844	B	0.36186	0.219	T	0.81927	-0.0709	10	0.87932	D	0	.	8.2022	0.31432	0.1074:0.0:0.8926:0.0	.	985	Q13733	AT1A4_HUMAN	Q	985;121	ENSP00000357060:R985Q;ENSP00000433094:R121Q	ENSP00000357060:R985Q	R	+	2	0	ATP1A4	158418430	0.966000	0.33281	0.993000	0.49108	0.977000	0.68977	3.433000	0.52834	2.373000	0.80994	0.455000	0.32223	CGA		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
SLAMF1	6504	broad.mit.edu	37	1	160616703	160616703	+	Silent	SNP	G	G	A	rs2295612	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:160616703G>A	ENST00000302035.6	-	1	382	c.33C>T	c.(31-33)ttC>ttT	p.F11F	SLAMF1_ENST00000235739.5_Silent_p.F11F|SLAMF1_ENST00000538290.1_Silent_p.F11F|SLAMF1_ENST00000355199.3_Silent_p.F11F	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	11			F -> L (in dbSNP:rs2295612).		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.F11F(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)			GAAACAGCACGAAGGTCAAGG	0.567																																					p.F11F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	1						.						68.0	62.0	64.0					1																	160616703		2203	4300	6503	158883327	SO:0001819	synonymous_variant	6504	exon1			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.33C>T	1.37:g.160616703G>A			158883327	NM_003037	Q5W172|Q9HBE8	Silent	SNP	ENST00000302035.6	37	CCDS1207.1																																																																																				0.567	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1		
CD48	962	broad.mit.edu	37	1	160651134	160651134	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:160651134C>T	ENST00000368046.3	-	3	597	c.510G>A	c.(508-510)agG>agA	p.R170R	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	170	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R170R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTGGGAAGGGCCTTTTGTCCC	0.443																																					p.R170R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G510A	1						.						181.0	165.0	170.0					1																	160651134		2203	4300	6503	158917758	SO:0001819	synonymous_variant	962	exon3			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.510G>A	1.37:g.160651134C>T			158917758	NM_001778	Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	CCDS1208.1																																																																																				0.443	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778	
LY9	4063	broad.mit.edu	37	1	160797562	160797562	+	Missense_Mutation	SNP	G	G	T	rs367971531		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:160797562G>T	ENST00000263285.6	+	10	1954	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	LY9_ENST00000368037.5_Missense_Mutation_p.D628Y|LY9_ENST00000392203.4_Missense_Mutation_p.D552Y|LY9_ENST00000341032.4_Missense_Mutation_p.D508Y|LY9_ENST00000368041.2_Missense_Mutation_p.D513Y|LY9_ENST00000368040.1_Missense_Mutation_p.D257Y			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	642					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D642Y(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)			ACAACAGAATGATCTTGAGAT	0.468																																					p.D642Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1924T	1						.						152.0	156.0	155.0					1																	160797562		2203	4300	6503	159064186	SO:0001583	missense	4063	exon10			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.1924G>T	1.37:g.160797562G>T	ENSP00000263285:p.Asp642Tyr		159064186	NM_002348	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	7.087	0.571347	0.13623	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	T;T;T	0.58940	0.3;1.56;1.56	3.58	1.57	0.23409	.	2.153910	0.02629	N	0.104107	T	0.58666	0.2138	M	0.61703	1.905	0.09310	N	0.999999	D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;1.0	D;P;P;D;D	0.72338	0.963;0.75;0.75;0.977;0.95	T	0.25779	-1.0122	10	0.87932	D	0	-0.0171	5.4411	0.16509	0.2828:0.0:0.7172:0.0	.	257;513;508;628;642	Q5VYI1;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;LY9_HUMAN	Y	642;508;257;643;513;589;411;257	ENSP00000342921:D508Y;ENSP00000357019:D257Y;ENSP00000357014:D257Y	ENSP00000263285:D643Y	D	+	1	0	LY9	159064186	0.002000	0.14202	0.088000	0.20740	0.023000	0.10783	-0.016000	0.12613	0.421000	0.25980	-0.345000	0.07892	GAT		0.468	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348	
F11R	50848	broad.mit.edu	37	1	160968840	160968840	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:160968840C>T	ENST00000368026.6	-	9	1131	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.R237Q|F11R_ENST00000472573.1_5'Flank	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	286					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACTTCACTTCGGGCACTAGG	0.527																																					p.R286Q												.	.	0			c.G857A	1						.						91.0	81.0	84.0					1																	160968840		2203	4300	6503	159235464	SO:0001583	missense	50848	exon9			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.857G>A	1.37:g.160968840C>T	ENSP00000357005:p.Arg286Gln		159235464	NM_016946	B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971439	0.92919	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	D;D;D	0.84660	-1.88;-1.88;-1.88	4.56	4.56	0.56223	.	1.055680	0.07435	N	0.896412	D	0.86952	0.6057	M	0.68317	2.08	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;P;P;P	0.63957	0.92;0.753;0.753;0.753	T	0.75637	-0.3249	10	0.30078	T	0.28	.	12.6946	0.56997	0.0:1.0:0.0:0.0	.	290;237;286;283	B7Z5W1;B7Z941;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	Q	286;286;286;237;290	ENSP00000357005:R286Q;ENSP00000440812:R237Q;ENSP00000394809:R290Q	ENSP00000289779:R286Q	R	-	2	0	F11R	159235464	0.359000	0.24955	0.090000	0.20809	0.996000	0.88848	3.695000	0.54749	2.348000	0.79779	0.655000	0.94253	CGA		0.527	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	
B4GALT3	8703	broad.mit.edu	37	1	161142024	161142024	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:161142024G>A	ENST00000319769.5	-	7	1123	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	B4GALT3_ENST00000470882.1_5'UTR|B4GALT3_ENST00000367998.1_Missense_Mutation_p.P301S|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	301					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)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.P301S(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TACCTGTGGGGATTTTCCTCA	0.517																																					p.P301S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C901T	1						.						116.0	105.0	109.0					1																	161142024		2203	4300	6503	159408648	SO:0001583	missense	8703	exon7			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.901C>T	1.37:g.161142024G>A	ENSP00000320965:p.Pro301Ser		159408648	NM_001199874	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773337	0.69992	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.34472	1.36;1.36	4.98	4.98	0.66077	.	0.232457	0.44688	D	0.000430	T	0.25680	0.0625	L	0.53671	1.685	0.58432	D	0.999996	B	0.26635	0.155	B	0.26614	0.071	T	0.06075	-1.0847	10	0.51188	T	0.08	.	17.5527	0.87881	0.0:0.0:1.0:0.0	.	301	O60512	B4GT3_HUMAN	S	301;278;301;301	ENSP00000320965:P301S;ENSP00000356977:P301S	ENSP00000320965:P301S	P	-	1	0	B4GALT3	159408648	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.400000	0.79949	2.746000	0.94184	0.655000	0.94253	CCC		0.517	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779	
SPEN	23013	broad.mit.edu	37	1	16262471	16262471	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	C	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:16262471A>C	ENST00000375759.3	+	11	9940	c.9736A>C	c.(9736-9738)Acc>Ccc	p.T3246P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3246	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ccccacccccacccctgcccc	0.662																																					p.T3246P												.	.	0			c.A9736C	1						.																																			16135058	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.9736A>C	1.37:g.16262471A>C	ENSP00000364912:p.Thr3246Pro		16135058	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.376361	0.00207	.	.	ENSG00000065526	ENST00000375759	T	0.09255	3.0	1.72	-0.922	0.10468	.	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	9	0.30078	T	0.28	.	5.1828	0.15169	0.5273:0.0:0.4727:0.0	.	3246	Q96T58	MINT_HUMAN	P	3246	ENSP00000364912:T3246P	ENSP00000364912:T3246P	T	+	1	0	SPEN	16135058	0.018000	0.18449	0.000000	0.03702	0.001000	0.01503	0.804000	0.27098	-0.457000	0.07033	-1.751000	0.00678	ACC		0.662	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
HSPB7	27129	broad.mit.edu	37	1	16343587	16343587	+	Silent	SNP	G	G	A	rs533029438		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:16343587G>A	ENST00000311890.9	-	2	1141	c.315C>T	c.(313-315)atC>atT	p.I105I	HSPB7_ENST00000375718.4_Silent_p.I180I|HSPB7_ENST00000411503.1_Silent_p.I105I|HSPB7_ENST00000406363.2_Silent_p.I109I|HSPB7_ENST00000487046.1_Silent_p.I110I	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	105					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.I105I(1)		breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGCACCTCGATGTGGTTGT	0.567																																					p.I105I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	1						.						137.0	131.0	133.0					1																	16343587		2203	4300	6503	16216174	SO:0001819	synonymous_variant	27129	exon2			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.315C>T	1.37:g.16343587G>A			16216174	NM_014424	B3KQ37|C9K0Y0|Q9NU17	Silent	SNP	ENST00000311890.9	37	CCDS30611.1																																																																																				0.567	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424	
TOMM40L	84134	broad.mit.edu	37	1	161197453	161197453	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:161197453G>A	ENST00000367988.3	+	5	573	c.304G>A	c.(304-306)Gac>Aac	p.D102N	TOMM40L_ENST00000474486.1_Intron|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000545897.1_Intron|TOMM40L_ENST00000367987.1_Missense_Mutation_p.D102N	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	102					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)	p.D102N(1)		large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGGATATGGACAGCAGTGG	0.567											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D102N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	1						.						58.0	52.0	54.0					1																	161197453		2203	4300	6503	159464077	SO:0001583	missense	84134	exon5				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.304G>A	1.37:g.161197453G>A	ENSP00000356967:p.Asp102Asn	1814	159464077	NM_032174	B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	35	5.428112	0.96131	.	.	ENSG00000158882	ENST00000367988;ENST00000542686;ENST00000367987	T;T	0.53206	0.63;0.63	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.87180	2.865	0.46981	D	0.999276	D	0.76494	0.999	D	0.73380	0.98	T	0.67917	-0.5546	9	0.38643	T	0.18	-16.4427	17.119	0.86697	0.0:0.0:1.0:0.0	.	102	Q969M1	TM40L_HUMAN	N	102;49;102	ENSP00000356967:D102N;ENSP00000356966:D102N	ENSP00000356966:D102N	D	+	1	0	TOMM40L	159464077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.555000	0.98123	2.636000	0.89361	0.655000	0.94253	GAC		0.567	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174	
MAEL	84944	broad.mit.edu	37	1	166990995	166990995	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:166990995C>T	ENST00000367872.4	+	12	1452	c.1208C>T	c.(1207-1209)tCt>tTt	p.S403F	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.S372F	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	403					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.S403F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ATTTCCAATTCTTCCAGCAAT	0.413																																					p.S403F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1208T	1						.						142.0	136.0	138.0					1																	166990995		2203	4300	6503	165257619	SO:0001583	missense	84944	exon12			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.1208C>T	1.37:g.166990995C>T	ENSP00000356846:p.Ser403Phe		165257619	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019760	0.35606	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.50813	0.73;0.74	5.23	4.31	0.51392	.	0.147218	0.37178	N	0.002206	T	0.20047	0.0482	L	0.27053	0.805	0.41078	D	0.985506	B;B	0.10296	0.001;0.003	B;B	0.10450	0.001;0.005	T	0.07947	-1.0746	10	0.51188	T	0.08	.	11.8045	0.52145	0.0:0.8243:0.1757:0.0	.	372;403	E9JVC3;Q96JY0	.;MAEL_HUMAN	F	403;372;125	ENSP00000356846:S403F;ENSP00000356844:S372F	ENSP00000356844:S372F	S	+	2	0	MAEL	165257619	0.380000	0.25131	0.753000	0.31225	0.994000	0.84299	1.690000	0.37711	1.415000	0.47037	0.655000	0.94253	TCT		0.413	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
DUSP27	92235	broad.mit.edu	37	1	167064177	167064177	+	Nonsense_Mutation	SNP	C	C	T	rs377245710		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:167064177C>T	ENST00000361200.2	+	2	257	c.91C>T	c.(91-93)Cga>Tga	p.R31*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.R31*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.R31*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	31					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R31*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCACTACCTCCGAAGCCCCTC	0.632																																					p.R31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C91T	1						.	C	stop/ARG	1,4399		0,1,2199	50.0	38.0	42.0		91	4.3	1.0	1		42	0,8588		0,0,4294	no	stop-gained	DUSP27	NM_001080426.1		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		31/1159	167064177	1,12987	2200	4294	6494	165330801	SO:0001587	stop_gained	92235	exon1			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.91C>T	1.37:g.167064177C>T	ENSP00000354483:p.Arg31*		165330801	NM_001080426	A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	40	8.101477	0.98654	2.27E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.27	4.33	0.51752	.	0.105150	0.41605	D	0.000844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3548	12.8937	0.58087	0.1637:0.8363:0.0:0.0	.	.	.	.	X	31	.	ENSP00000271385:R31X	R	+	1	2	DUSP27	165330801	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.290000	0.51755	1.165000	0.42670	0.655000	0.94253	CGA		0.632	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
ADCY10	55811	broad.mit.edu	37	1	167814993	167814993	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:167814993C>T	ENST00000367851.4	-	21	2999	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ADCY10_ENST00000545172.1_Missense_Mutation_p.E786K|ADCY10_ENST00000367848.1_Missense_Mutation_p.E847K	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	939					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.E939K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGCCACAGCTCGTAGGCTGTT	0.502																																					p.E786K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2356A	1						.						120.0	111.0	114.0					1																	167814993		2203	4300	6503	166081617	SO:0001583	missense	55811	exon18			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2815G>A	1.37:g.167814993C>T	ENSP00000356825:p.Glu939Lys		166081617	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301066	0.81136	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.35789	1.29;1.3;1.3	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000012	T	0.53270	0.1786	M	0.76002	2.32	0.32029	N	0.599757	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.994	T	0.51252	-0.8729	9	0.45353	T	0.12	-29.0691	15.854	0.78960	0.0:1.0:0.0:0.0	.	786;847;939	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	K	786;939;847	ENSP00000441992:E786K;ENSP00000356825:E939K;ENSP00000356822:E847K	ENSP00000356822:E847K	E	-	1	0	ADCY10	166081617	0.994000	0.37717	0.991000	0.47740	0.354000	0.29330	4.223000	0.58587	2.826000	0.97356	0.655000	0.94253	GAG		0.502	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
ADCY10	55811	broad.mit.edu	37	1	167829051	167829051	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:167829051C>T	ENST00000367851.4	-	16	2074	c.1890G>A	c.(1888-1890)ttG>ttA	p.L630L	ADCY10_ENST00000545172.1_Silent_p.L477L|ADCY10_ENST00000367848.1_Silent_p.L538L	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	630					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.L630L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTACCAGCTTCAAGATCTTCA	0.418																																					p.L477L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1431A	1						.						206.0	216.0	213.0					1																	167829051		2203	4300	6503	166095675	SO:0001819	synonymous_variant	55811	exon13			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1890G>A	1.37:g.167829051C>T			166095675	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	CCDS1265.1																																																																																				0.418	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
DCAF6	55827	broad.mit.edu	37	1	168037606	168037606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:168037606G>A	ENST00000312263.6	+	18	2627	c.2423G>A	c.(2422-2424)cGa>cAa	p.R808Q	DCAF6_ENST00000367840.3_Missense_Mutation_p.R899Q|DCAF6_ENST00000432587.2_Missense_Mutation_p.R868Q|DCAF6_ENST00000367843.3_Missense_Mutation_p.R828Q	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	808					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.R828Q(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						GTTATAACTCGAAACGAACTC	0.388																																					p.R868Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2603A	1						.						107.0	100.0	102.0					1																	168037606		2203	4300	6503	166304230	SO:0001583	missense	55827	exon20			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.2423G>A	1.37:g.168037606G>A	ENSP00000311949:p.Arg808Gln		166304230	NM_001198957	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216095	0.95104	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.82619	-1.62;0.12;-1.63;-1.63	5.81	5.81	0.92471	.	0.229248	0.40222	N	0.001149	T	0.81064	0.4745	M	0.65975	2.015	0.43857	D	0.996459	D;D;P;B;P	0.59357	0.981;0.985;0.873;0.348;0.701	B;P;B;B;B	0.45343	0.394;0.477;0.379;0.137;0.357	T	0.80422	-0.1389	9	0.37606	T	0.19	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	868;481;899;808;828	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	Q	828;868;808;899	ENSP00000356817:R828Q;ENSP00000396238:R868Q;ENSP00000311949:R808Q;ENSP00000356814:R899Q	ENSP00000311949:R808Q	R	+	2	0	DCAF6	166304230	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	9.234000	0.95347	2.746000	0.94184	0.591000	0.81541	CGA		0.388	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
SLC19A2	10560	broad.mit.edu	37	1	169437363	169437363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:169437363C>A	ENST00000236137.5	-	5	1587	c.1351G>T	c.(1351-1353)Gaa>Taa	p.E451*	SLC19A2_ENST00000367804.4_Nonsense_Mutation_p.E250*	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	451					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)	p.E451*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	GTGGTAATTTCTAATCCAAGG	0.438																																					p.E451X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1351T	1						.						106.0	96.0	99.0					1																	169437363		2203	4300	6503	167703987	SO:0001587	stop_gained	10560	exon5			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1351G>T	1.37:g.169437363C>A	ENSP00000236137:p.Glu451*		167703987	NM_006996	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Nonsense_Mutation	SNP	ENST00000236137.5	37	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	C	37	6.623655	0.97714	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	.	.	.	5.42	1.28	0.21552	.	0.673092	0.15408	N	0.263950	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	0.0841	4.7173	0.12901	0.1286:0.6193:0.1176:0.1345	.	.	.	.	X	451;250;413	.	ENSP00000236137:E451X	E	-	1	0	SLC19A2	167703987	0.560000	0.26570	0.909000	0.35828	0.991000	0.79684	1.523000	0.35932	0.045000	0.15804	-0.150000	0.13652	GAA		0.438	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996	
F5	2153	broad.mit.edu	37	1	169498989	169498989	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:169498989T>C	ENST00000367797.3	-	16	5477	c.5276A>G	c.(5275-5277)gAc>gGc	p.D1759G	F5_ENST00000367796.3_Missense_Mutation_p.D1764G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1759	F5/8 type A 3.				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.D1759G(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)	CATGTTGCTGTCCTTATGTAG	0.383																																					p.D1759G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5276G	1						.						155.0	150.0	151.0					1																	169498989		2203	4300	6503	167765613	SO:0001583	missense	2153	exon16			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.5276A>G	1.37:g.169498989T>C	ENSP00000356771:p.Asp1759Gly		167765613	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767692	0.31320	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99032	-5.35;-5.35	5.4	3.01	0.34805	Cupredoxin (2);	0.973901	0.08438	N	0.945824	D	0.95648	0.8585	L	0.49126	1.545	0.24098	N	0.995886	B	0.12013	0.005	B	0.17722	0.019	D	0.86997	0.2114	9	0.22706	T	0.39	-3.7134	12.6371	0.56689	0.0:0.0:0.4591:0.5409	.	1759	P12259	FA5_HUMAN	G	1759;1764	ENSP00000356771:D1759G;ENSP00000356770:D1764G	ENSP00000356770:D1764G	D	-	2	0	F5	167765613	0.000000	0.05858	0.618000	0.29105	0.969000	0.65631	0.631000	0.24568	0.322000	0.23283	0.455000	0.32223	GAC		0.383	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169505785	169505785	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:169505785G>T	ENST00000367797.3	-	14	5131	c.4930C>A	c.(4930-4932)Ctt>Att	p.L1644I	F5_ENST00000367796.3_Missense_Mutation_p.L1649I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1644	F5/8 type A 3.|Plastocyanin-like 5.				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.L1644I(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)	ATAGGACCAAGAATTCCGAGA	0.423																																					p.L1644I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4930A	1						.						98.0	92.0	94.0					1																	169505785		2203	4300	6503	167772409	SO:0001583	missense	2153	exon14			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.4930C>A	1.37:g.169505785G>T	ENSP00000356771:p.Leu1644Ile		167772409	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516762	0.85495	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99523	-6.08;-6.08	5.0	5.0	0.66597	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.90922	3.16	0.38861	D	0.956475	D	0.89917	1.0	D	0.91635	0.999	D	0.97868	1.0284	9	0.72032	D	0.01	-17.8374	18.6695	0.91506	0.0:0.0:1.0:0.0	.	1644	P12259	FA5_HUMAN	I	1644;1649	ENSP00000356771:L1644I;ENSP00000356770:L1649I	ENSP00000356770:L1649I	L	-	1	0	F5	167772409	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.219000	0.65262	2.472000	0.83506	0.655000	0.94253	CTT		0.423	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169510070	169510070	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:169510070G>T	ENST00000367797.3	-	13	4459	c.4258C>A	c.(4258-4260)Ctt>Att	p.L1420I	F5_ENST00000367796.3_Missense_Mutation_p.L1425I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1420	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				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.L1420I(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)	TTTGGGGAAAGATCTGTCTCA	0.532																																					p.L1420I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4258A	1						.						77.0	82.0	80.0					1																	169510070		2203	4300	6503	167776694	SO:0001583	missense	2153	exon13			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.4258C>A	1.37:g.169510070G>T	ENSP00000356771:p.Leu1420Ile		167776694	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	g	6.806	0.517862	0.13005	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.38077	1.16;1.16	3.41	0.0356	0.14188	.	0.835076	0.10357	N	0.684372	T	0.14485	0.0350	M	0.78456	2.415	0.20196	N	0.999928	B	0.30763	0.294	B	0.24974	0.057	T	0.15065	-1.0450	9	0.22109	T	0.4	0.2116	4.982	0.14170	0.1105:0.0:0.5268:0.3627	.	1420	P12259	FA5_HUMAN	I	1420;1425	ENSP00000356771:L1420I;ENSP00000356770:L1425I	ENSP00000356770:L1425I	L	-	1	0	F5	167776694	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.002000	0.13061	0.161000	0.19458	-0.302000	0.09304	CTT		0.532	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
SELP	6403	broad.mit.edu	37	1	169581587	169581587	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:169581587G>T	ENST00000263686.6	-	6	866	c.829C>A	c.(829-831)Cat>Aat	p.H277N	SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.H277N|SELP_ENST00000367791.2_Missense_Mutation_p.H277N|SELP_ENST00000458599.2_Missense_Mutation_p.H277N|SELP_ENST00000367793.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.H277N|SELP_ENST00000367792.2_Missense_Mutation_p.H277N	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	277	Sushi 2. {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.H277N(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)	TTTGCAGAATGAAGGCAGGTC	0.488																																					p.H277N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C829A	1						.						107.0	104.0	105.0					1																	169581587		2203	4300	6503	167848211	SO:0001583	missense	6403	exon6			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.829C>A	1.37:g.169581587G>T	ENSP00000263686:p.His277Asn		167848211	NM_003005	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.583|6.583	0.475906|0.475906	0.12521|0.12521	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T|.	0.62232|.	0.04;0.04;0.04;0.04;0.04|.	5.16|5.16	2.14|2.14	0.27477|0.27477	Complement control module (2);Sushi/SCR/CCP (3);|.	0.951167|.	0.08692|.	N|.	0.907768|.	T|.	0.21962|.	0.0529|.	L|L	0.49778|0.49778	1.585|1.585	0.09310|0.09310	N|N	1|1	P;D;P|.	0.53885|.	0.775;0.963;0.95|.	P;P;P|.	0.60541|.	0.524;0.876;0.779|.	T|.	0.17899|.	-1.0354|.	10|.	0.22706|.	T|.	0.39|.	.|.	7.4038|7.4038	0.26979|0.26979	0.1513:0.0:0.7147:0.134|0.1513:0.0:0.7147:0.134	.|.	277;277;277|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	N|X	277;277;276;277;277;277;277;277;277;277;262|276	ENSP00000263686:H277N;ENSP00000356768:H277N;ENSP00000356766:H277N;ENSP00000356765:H277N;ENSP00000356760:H277N|.	ENSP00000263686:H277N|.	H|S	-|-	1|2	0|0	SELP|SELP	167848211|167848211	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.081000|0.081000	0.17604|0.17604	0.096000|0.096000	0.15147|0.15147	0.530000|0.530000	0.28619|0.28619	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
SELE	6401	broad.mit.edu	37	1	169699677	169699677	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:169699677G>T	ENST00000333360.7	-	5	750	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	SELE_ENST00000367777.1_Missense_Mutation_p.S204Y|SELE_ENST00000367782.4_Missense_Mutation_p.S204Y|SELE_ENST00000367776.1_Missense_Mutation_p.S204Y|SELE_ENST00000367779.4_Missense_Mutation_p.S204Y|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.S204Y|SELE_ENST00000367774.1_Missense_Mutation_p.S204Y|SELE_ENST00000367775.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	204	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.S204Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AGAGCAGGAAGAATTGTAGCT	0.502																																					p.S204Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611A	1						.						111.0	104.0	106.0					1																	169699677		2203	4300	6503	167966301	SO:0001583	missense	6401	exon5			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.611C>A	1.37:g.169699677G>T	ENSP00000331736:p.Ser204Tyr		167966301	NM_000450	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246015	0.80024	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.72	5.72	0.89469	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.42053	D	0.000761	D	0.87775	0.6262	H	0.98005	4.125	0.54753	D	0.999985	D	0.89917	1.0	D	0.81914	0.995	D	0.91761	0.5420	10	0.87932	D	0	-18.3544	17.3907	0.87430	0.0:0.0:1.0:0.0	.	204	P16581	LYAM2_HUMAN	Y	204	ENSP00000356755:S204Y;ENSP00000356756:S204Y;ENSP00000356753:S204Y;ENSP00000331736:S204Y;ENSP00000356751:S204Y;ENSP00000356750:S204Y;ENSP00000356748:S204Y	ENSP00000331736:S204Y	S	-	2	0	SELE	167966301	1.000000	0.71417	0.986000	0.45419	0.609000	0.37215	8.682000	0.91232	2.691000	0.91804	0.655000	0.94253	TCT		0.502	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
SCYL3	57147	broad.mit.edu	37	1	169857939	169857939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:169857939C>A	ENST00000367770.1	-	1	90	c.43G>T	c.(43-45)Gaa>Taa	p.E15*	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Nonsense_Mutation_p.E15*|SCYL3_ENST00000367771.6_Nonsense_Mutation_p.E15*			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	15	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.E15*(2)		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)					AATGGTGGTTCTCTCAGTGTA	0.428																																					p.E15X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G43T	1						.						202.0	184.0	190.0					1																	169857939		2203	4300	6503	168124563	SO:0001587	stop_gained	57147	exon2			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.43G>T	1.37:g.169857939C>A	ENSP00000356744:p.Glu15*		168124563	NM_181093	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Nonsense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	C	37	6.334428	0.97485	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	.	.	.	5.28	5.28	0.74379	.	0.103387	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.1965	18.8736	0.92325	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	.	E	-	1	0	SCYL3	168124563	1.000000	0.71417	0.038000	0.18304	0.460000	0.32559	4.385000	0.59613	2.623000	0.88846	0.655000	0.94253	GAA		0.428	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	
MROH9	80133	broad.mit.edu	37	1	170934393	170934393	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:170934393A>G	ENST00000367758.3	+	7	576	c.477A>G	c.(475-477)aaA>aaG	p.K159K	MROH9_ENST00000367759.4_Silent_p.K159K	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	159								p.K159K(1)									AAGTCAGAAAATACGTAAGTC	0.393																																					p.K159K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A477G	1						.						119.0	113.0	115.0					1																	170934393		1911	4131	6042	169201017	SO:0001819	synonymous_variant	80133	exon7			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.477A>G	1.37:g.170934393A>G			169201017	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	CCDS41436.1																																																																																				0.393	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
FMO3	2328	broad.mit.edu	37	1	171073087	171073087	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:171073087G>T	ENST00000367755.4	+	3	405	c.294G>T	c.(292-294)aaG>aaT	p.K98N	FMO3_ENST00000542847.1_Missense_Mutation_p.K78N|MIR1295A_ENST00000408463.1_RNA|FMO3_ENST00000538429.1_Intron|FMO3_ENST00000392085.2_Missense_Mutation_p.K98N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	98					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.K98N(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)	CCAAAGAAAAGAACCTCCTGA	0.373																																					p.K98N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G294T	1						.						90.0	84.0	86.0					1																	171073087		2203	4300	6503	169339711	SO:0001583	missense	2328	exon3			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.294G>T	1.37:g.171073087G>T	ENSP00000356729:p.Lys98Asn		169339711	NM_001002294	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566018	0.65651	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847	T;T;T	0.54071	0.59;0.59;0.59	4.53	1.21	0.21127	.	0.175560	0.49305	D	0.000148	T	0.28234	0.0697	L	0.41079	1.255	0.26802	N	0.969185	B;P	0.48230	0.003;0.907	B;P	0.50708	0.007;0.648	T	0.17501	-1.0367	10	0.72032	D	0.01	-11.8599	1.7228	0.02915	0.2091:0.3115:0.3471:0.1323	.	78;98	F5GZZ8;P31513	.;FMO3_HUMAN	N	98;98;78	ENSP00000356729:K98N;ENSP00000375935:K98N;ENSP00000444073:K78N	ENSP00000356729:K98N	K	+	3	2	FMO3	169339711	0.041000	0.20044	0.982000	0.44146	0.978000	0.69477	0.323000	0.19593	0.398000	0.25338	0.591000	0.81541	AAG		0.373	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
FMO3	2328	broad.mit.edu	37	1	171083302	171083302	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:171083302C>T	ENST00000367755.4	+	7	1094	c.983C>T	c.(982-984)gCa>gTa	p.A328V	FMO3_ENST00000542847.1_Missense_Mutation_p.A308V|FMO3_ENST00000538429.1_Missense_Mutation_p.A265V|FMO3_ENST00000392085.2_Missense_Mutation_p.A328V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	328					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.A328V(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)	GTAATCTTTGCAACAGGGTAT	0.413																																					p.A328V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C983T	1						.						166.0	152.0	157.0					1																	171083302		2203	4300	6503	169349926	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.983C>T	1.37:g.171083302C>T	ENSP00000356729:p.Ala328Val		169349926	NM_001002294	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293259	0.60086	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	H	0.97265	3.97	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.99;0.998	D	0.93939	0.7221	10	0.87932	D	0	-16.0803	17.6961	0.88282	0.0:1.0:0.0:0.0	.	265;308;328	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	V	328;328;308;265	ENSP00000356729:A328V;ENSP00000375935:A328V;ENSP00000444073:A308V;ENSP00000439500:A265V	ENSP00000356729:A328V	A	+	2	0	FMO3	169349926	0.011000	0.17503	1.000000	0.80357	0.277000	0.26821	0.672000	0.25187	2.305000	0.77605	0.650000	0.86243	GCA		0.413	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
FMO2	2327	broad.mit.edu	37	1	171162582	171162582	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:171162582T>G	ENST00000209929.7	+	3	399	c.241T>G	c.(241-243)Ttc>Gtc	p.F81V	FMO2_ENST00000441535.1_Missense_Mutation_p.F81V|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	81					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.F81V(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)					TTTTCCAAACTTCCTGCATAA	0.358																																					p.F81V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T241G	1						.						77.0	77.0	77.0					1																	171162582		2203	4300	6503	169429206	SO:0001583	missense	2327	exon3			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.241T>G	1.37:g.171162582T>G	ENSP00000209929:p.Phe81Val		169429206	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470548	0.84533	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.60548	0.18;0.18	5.44	4.31	0.51392	.	0.172296	0.53938	D	0.000041	T	0.78534	0.4298	H	0.97265	3.97	0.44745	D	0.99774	D	0.76494	0.999	D	0.73708	0.981	D	0.84363	0.0539	10	0.87932	D	0	-14.2724	10.8475	0.46751	0.0:0.0748:0.0:0.9252	.	81	Q99518	FMO2_HUMAN	V	81	ENSP00000209929:F81V;ENSP00000405905:F81V	ENSP00000209929:F81V	F	+	1	0	FMO2	169429206	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.943000	0.56621	0.898000	0.36418	0.533000	0.62120	TTC		0.358	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
FMO4	2329	broad.mit.edu	37	1	171300907	171300907	+	Nonsense_Mutation	SNP	C	C	T	rs373804650		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:171300907C>T	ENST00000367749.3	+	6	943	c.613C>T	c.(613-615)Cga>Tga	p.R205*	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	205					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.R205*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGAACTCAGTCGAACGGCAGC	0.458																																					p.R205X	Pancreas(24;816 862 7754 7993 32832)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C613T	1						.	C	stop/ARG	0,4406		0,0,2203	199.0	189.0	192.0		613	3.3	0.0	1		192	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	FMO4	NM_002022.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		205/559	171300907	1,13005	2203	4300	6503	169567531	SO:0001587	stop_gained	2329	exon6			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.613C>T	1.37:g.171300907C>T	ENSP00000356723:p.Arg205*		169567531	NM_002022	Q53XR0	Nonsense_Mutation	SNP	ENST00000367749.3	37	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995378	0.93167	0.0	1.16E-4	ENSG00000076258	ENST00000367749	.	.	.	5.26	3.35	0.38373	.	0.226660	0.37623	N	0.002020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0067	10.0263	0.42074	0.0:0.7796:0.1437:0.0766	.	.	.	.	X	205	.	ENSP00000356723:R205X	R	+	1	2	FMO4	169567531	0.005000	0.15991	0.047000	0.18901	0.137000	0.21094	1.492000	0.35594	0.575000	0.29434	0.655000	0.94253	CGA		0.458	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	
FMO4	2329	broad.mit.edu	37	1	171303720	171303720	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:171303720C>A	ENST00000367749.3	+	8	1328	c.998C>A	c.(997-999)tCt>tAt	p.S333Y		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	333					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.S333Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATACATTTTCTTTTCCATTT	0.373																																					p.S333Y	Pancreas(24;816 862 7754 7993 32832)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C998A	1						.						89.0	93.0	91.0					1																	171303720		2203	4300	6503	169570344	SO:0001583	missense	2329	exon8			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.998C>A	1.37:g.171303720C>A	ENSP00000356723:p.Ser333Tyr		169570344	NM_002022	Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424604	0.43020	.	.	ENSG00000076258	ENST00000367749	T	0.62364	0.03	5.38	5.38	0.77491	.	0.057049	0.64402	D	0.000001	T	0.75831	0.3903	M	0.87381	2.88	0.44073	D	0.996823	P	0.42941	0.794	P	0.54499	0.754	T	0.79715	-0.1687	10	0.72032	D	0.01	-16.7544	18.7363	0.91756	0.0:1.0:0.0:0.0	.	333	P31512	FMO4_HUMAN	Y	333	ENSP00000356723:S333Y	ENSP00000356723:S333Y	S	+	2	0	FMO4	169570344	0.006000	0.16342	0.805000	0.32314	0.338000	0.28826	1.928000	0.40104	2.516000	0.84829	0.650000	0.86243	TCT		0.373	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	
DNM3	26052	broad.mit.edu	37	1	172222796	172222796	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:172222796C>T	ENST00000355305.5	+	16	1930	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	DNM3_ENST00000367731.1_Silent_p.I581I|DNM3_ENST00000358155.4_Silent_p.I581I|DNM3_ENST00000520906.1_Silent_p.I581I			Q9UQ16	DYN3_HUMAN	dynamin 3	591	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.I581I(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCAAGCACATCTTTGCACTCT	0.358																																					p.I581I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1743T	1						.						55.0	53.0	54.0					1																	172222796		1843	4118	5961	170489419	SO:0001819	synonymous_variant	26052	exon15			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.1773C>T	1.37:g.172222796C>T			170489419	NM_015569	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37																																																																																					0.358	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
SLC9C2	284525	broad.mit.edu	37	1	173502932	173502932	+	Missense_Mutation	SNP	A	A	T	rs184599547		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:173502932A>T	ENST00000367714.3	-	17	2401	c.1979T>A	c.(1978-1980)aTa>aAa	p.I660K	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)	660	Ion transport-like. {ECO:0000250}.				sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.I660K(1)									TTTCAAAATTATTATCTGTAC	0.274																																					p.I660K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1979A	1						.						26.0	28.0	28.0					1																	173502932		2191	4272	6463	171769555	SO:0001583	missense	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.1979T>A	1.37:g.173502932A>T	ENSP00000356687:p.Ile660Lys		171769555	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	A	17.53	3.412951	0.62511	.	.	ENSG00000162753	ENST00000367714	D	0.97665	-4.48	5.5	3.17	0.36434	Ion transport (1);	0.414878	0.23051	N	0.052498	D	0.96531	0.8868	M	0.84156	2.68	0.80722	D	1	D	0.54397	0.966	P	0.55303	0.773	D	0.95529	0.8601	10	0.56958	D	0.05	-11.0125	6.7619	0.23546	0.8179:0.0:0.1821:0.0	.	660	Q5TAH2	S9A11_HUMAN	K	660	ENSP00000356687:I660K	ENSP00000356687:I660K	I	-	2	0	SLC9A11	171769555	0.374000	0.25081	0.998000	0.56505	0.742000	0.42306	1.367000	0.34204	1.015000	0.39444	0.528000	0.53228	ATA		0.274	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
SLC9C2	284525	broad.mit.edu	37	1	173570834	173570834	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:173570834C>T	ENST00000367714.3	-	2	504	c.82G>A	c.(82-84)Gag>Aag	p.E28K	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	28					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.E28K(1)									AAATGTTTCTCTTCAACAAGG	0.428																																					p.E28K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82A	1						.						196.0	182.0	187.0					1																	173570834		2203	4300	6503	171837457	SO:0001583	missense	284525	exon2			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.82G>A	1.37:g.173570834C>T	ENSP00000356687:p.Glu28Lys		171837457	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157315	0.09236	.	.	ENSG00000162753	ENST00000367714	T	0.04156	3.69	4.79	-9.57	0.00562	.	2.249330	0.01419	N	0.014296	T	0.00440	0.0014	N	0.04508	-0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41680	-0.9495	10	0.06494	T	0.89	3.7709	4.9479	0.13999	0.0974:0.3525:0.4102:0.1399	.	28	Q5TAH2	S9A11_HUMAN	K	28	ENSP00000356687:E28K	ENSP00000356687:E28K	E	-	1	0	SLC9A11	171837457	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.234000	0.02931	-2.253000	0.00698	-2.047000	0.00414	GAG		0.428	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
TNN	63923	broad.mit.edu	37	1	175086104	175086104	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:175086104G>A	ENST00000239462.4	+	10	2262	c.2149G>A	c.(2149-2151)Gac>Aac	p.D717N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	717	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.D717N(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)		CCTGGTGACCGACCGGGTGAC	0.512																																					p.D717N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2149A	1						.						62.0	72.0	68.0					1																	175086104		2202	4300	6502	173352727	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.2149G>A	1.37:g.175086104G>A	ENSP00000239462:p.Asp717Asn		173352727	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	5.428	0.264039	0.10294	.	.	ENSG00000120332	ENST00000239462	T	0.57273	0.41	5.37	3.5	0.40072	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.844365	0.10897	N	0.621992	T	0.42607	0.1210	L	0.35542	1.07	0.09310	N	1	B	0.23316	0.083	B	0.24848	0.056	T	0.38824	-0.9643	10	0.62326	D	0.03	.	8.5117	0.33222	0.2416:0.0:0.7584:0.0	.	717	Q9UQP3	TENN_HUMAN	N	717	ENSP00000239462:D717N	ENSP00000239462:D717N	D	+	1	0	TNN	173352727	0.005000	0.15991	0.008000	0.14137	0.018000	0.09664	1.110000	0.31147	0.759000	0.33084	0.655000	0.94253	GAC		0.512	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNN	63923	broad.mit.edu	37	1	175097173	175097173	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:175097173G>A	ENST00000239462.4	+	14	3164	c.3051G>A	c.(3049-3051)atG>atA	p.M1017I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1017	Fibronectin type-III 9. {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.M1017I(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)		GGTAGGAGATGCAGCTGGGAC	0.552																																					p.M1017I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3051A	1						.						112.0	93.0	99.0					1																	175097173		2203	4300	6503	173363796	SO:0001583	missense	63923	exon14			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.3051G>A	1.37:g.175097173G>A	ENSP00000239462:p.Met1017Ile		173363796	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	4.216	0.038823	0.08148	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.55234	0.53	5.61	-0.942	0.10398	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.185860	0.46758	N	0.000268	T	0.15955	0.0384	N	0.00656	-1.285	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.30679	-0.9970	10	0.18276	T	0.48	.	7.8905	0.29675	0.4633:0.0:0.4351:0.1017	.	1017	Q9UQP3	TENN_HUMAN	I	1017;840	ENSP00000239462:M1017I	ENSP00000239462:M1017I	M	+	3	0	TNN	173363796	0.910000	0.30920	0.037000	0.18230	0.042000	0.13812	-0.139000	0.10358	-0.464000	0.06963	-1.598000	0.00824	ATG		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNR	7143	broad.mit.edu	37	1	175335178	175335178	+	Missense_Mutation	SNP	C	C	T	rs551588483	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:175335178C>T	ENST00000367674.2	-	11	2858	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q	TNR_ENST00000263525.2_Missense_Mutation_p.R717Q			Q92752	TENR_HUMAN	tenascin R	717	Fibronectin type-III 5. {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.R717Q(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)					AAAGGTAATTCGGTAGTGGTC	0.552													C|||	3	0.000599042	0.0	0.0	5008	,	,		20875	0.0		0.0	False		,,,				2504	0.0031				p.R717Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2150A	1						.						152.0	141.0	145.0					1																	175335178		2203	4300	6503	173601801	SO:0001583	missense	7143	exon11			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.2150G>A	1.37:g.175335178C>T	ENSP00000356646:p.Arg717Gln		173601801	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822223	0.90873	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57907	0.37;0.37	5.92	5.92	0.95590	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.066673	0.56097	D	0.000022	T	0.66416	0.2787	M	0.69358	2.11	0.51233	D	0.999919	D	0.76494	0.999	P	0.55303	0.773	T	0.61618	-0.7026	10	0.32370	T	0.25	.	19.9036	0.96999	0.0:1.0:0.0:0.0	.	717	Q92752	TENR_HUMAN	Q	717	ENSP00000356646:R717Q;ENSP00000263525:R717Q	ENSP00000263525:R717Q	R	-	2	0	TNR	173601801	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.787000	0.47798	2.797000	0.96272	0.555000	0.69702	CGA		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
PAPPA2	60676	broad.mit.edu	37	1	176734959	176734959	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:176734959A>G	ENST00000367662.3	+	15	5473	c.4309A>G	c.(4309-4311)Atc>Gtc	p.I1437V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1437	Sushi 1. {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.I1437V(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						TGGGCAGTACATCAGGCCCAT	0.517																																					p.I1437V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4309G	1						.						103.0	99.0	100.0					1																	176734959		1996	4183	6179	175001582	SO:0001583	missense	60676	exon15			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.4309A>G	1.37:g.176734959A>G	ENSP00000356634:p.Ile1437Val		175001582	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	8.138	0.784643	0.16189	.	.	ENSG00000116183	ENST00000367662	T	0.75938	-0.98	5.69	3.81	0.43845	Sushi/SCR/CCP (1);	0.465153	0.22135	N	0.064140	T	0.58104	0.2099	N	0.24115	0.695	0.54753	D	0.999986	B	0.21821	0.061	B	0.23275	0.045	T	0.54146	-0.8337	10	0.66056	D	0.02	-16.995	5.9594	0.19291	0.1615:0.6798:0.0:0.1587	.	1437	Q9BXP8	PAPP2_HUMAN	V	1437	ENSP00000356634:I1437V	ENSP00000356634:I1437V	I	+	1	0	PAPPA2	175001582	0.522000	0.26266	0.992000	0.48379	0.185000	0.23345	0.266000	0.18534	0.745000	0.32763	-0.213000	0.12676	ATC		0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
ASTN1	460	broad.mit.edu	37	1	176992546	176992546	+	Missense_Mutation	SNP	C	C	T	rs377210940		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:176992546C>T	ENST00000367654.3	-	7	1643	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	ASTN1_ENST00000424564.2_Missense_Mutation_p.E478K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.E478K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E478K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	478	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.E478K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTACCAGTTTCGGGGTCACAT	0.597																																					p.E478K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1432A	1						.						22.0	21.0	21.0					1																	176992546		2202	4300	6502	175259169	SO:0001583	missense	460	exon7			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1432G>A	1.37:g.176992546C>T	ENSP00000356626:p.Glu478Lys		175259169	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	26.0	4.696151	0.88830	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.87334	-2.24;-2.24;2.66;-2.24	5.91	5.91	0.95273	Epidermal growth factor-like (1);	0.094831	0.64402	D	0.000001	T	0.79347	0.4430	L	0.27053	0.805	0.80722	D	1	P;P;P	0.43909	0.821;0.821;0.821	B;B;B	0.30251	0.113;0.07;0.07	T	0.82701	-0.0327	10	0.72032	D	0.01	-22.4728	19.8914	0.96931	0.0:1.0:0.0:0.0	.	478;478;478	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	K	478	ENSP00000356629:E478K;ENSP00000354536:E478K;ENSP00000356626:E478K;ENSP00000395041:E478K	ENSP00000354536:E478K	E	-	1	0	ASTN1	175259169	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.645000	0.83430	2.813000	0.96785	0.655000	0.94253	GAA		0.597	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
ASTN1	460	broad.mit.edu	37	1	176998864	176998864	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:176998864G>A	ENST00000367654.3	-	5	1237	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000424564.2_Silent_p.F342F|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.F342F|ASTN1_ENST00000367657.3_Silent_p.F342F	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	342					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.F342F(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGGGTTCAAGAAGGCGGAAC	0.493																																					p.F342F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1026T	1						.						52.0	47.0	49.0					1																	176998864		2203	4300	6503	175265487	SO:0001819	synonymous_variant	460	exon5			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1026C>T	1.37:g.176998864G>A			175265487	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																					0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
BRINP2	57795	broad.mit.edu	37	1	177245370	177245370	+	Missense_Mutation	SNP	G	G	A	rs149493139		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:177245370G>A	ENST00000361539.4	+	6	1124	c.812G>A	c.(811-813)cGc>cAc	p.R271H	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	271	MACPF.				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.R271H(1)									CTGCGTGAGCGCTTTGTAGCT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		22753	0.0		0.0	False		,,,				2504	0.001				p.R271H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G812A	1						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	61.0	64.0		812	6.1	1.0	1	dbSNP_134	64	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FAM5B	NM_021165.2	29	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	271/784	177245370	5,13001	2203	4300	6503	175511993	SO:0001583	missense	57795	exon6				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.812G>A	1.37:g.177245370G>A	ENSP00000354481:p.Arg271His		175511993	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677516	0.88445	2.27E-4	4.65E-4	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15487	2.42	6.07	6.07	0.98685	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.51422	1.61	0.58432	D	0.999995	D;B;P	0.76494	0.999;0.084;0.928	D;B;B	0.65233	0.933;0.034;0.379	T	0.00567	-1.1667	10	0.54805	T	0.06	-25.4339	13.4513	0.61172	0.0717:0.0:0.9283:0.0	.	21;166;271	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	H	21;271	ENSP00000354481:R271H	ENSP00000354481:R271H	R	+	2	0	FAM5B	175511993	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.023000	0.57211	2.884000	0.98904	0.655000	0.94253	CGC		0.562	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
PADI6	353238	broad.mit.edu	37	1	17720546	17720546	+	RNA	SNP	G	G	A	rs560246479		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:17720546G>A	ENST00000434762.2	+	0	1201							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.D383N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCAGGCCGCCGATCTCGATGA	0.537																																					p.R384Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1151A	1						.						98.0	106.0	103.0					1																	17720546		1997	4162	6159	17593133			353238	exon10			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720546G>A			17593133	NM_207421	Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.537	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
BRINP2	57795	broad.mit.edu	37	1	177245422	177245422	+	Silent	SNP	C	C	T	rs367556683		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:177245422C>T	ENST00000361539.4	+	6	1176	c.864C>T	c.(862-864)ctC>ctT	p.L288L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	288					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.L288L(2)									AGGGTGAGCTCGTCTGCAAGG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22495	0.0		0.0	False		,,,				2504	0.0				p.L288L												.	.	2	Substitution - coding silent(2)	large_intestine(1)|breast(1)	c.C864T	1						.	C		2,4404	4.2+/-10.8	0,2,2201	77.0	61.0	66.0		864	0.3	0.7	1		66	0,8600		0,0,4300	no	coding-synonymous	FAM5B	NM_021165.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		288/784	177245422	2,13004	2203	4300	6503	175512045	SO:0001819	synonymous_variant	57795	exon6				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.864C>T	1.37:g.177245422C>T			175512045	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	CCDS1320.1																																																																																				0.582	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
SEC16B	89866	broad.mit.edu	37	1	177902749	177902749	+	Missense_Mutation	SNP	C	C	T	rs543330759	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:177902749C>T	ENST00000308284.6	-	21	2683	c.2594G>A	c.(2593-2595)cGa>cAa	p.R865Q	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	865					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.R866Q(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGAAATACTTCGTGGTCTAGC	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		20136	0.0		0.0	False		,,,				2504	0.002				p.R865Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2594A	1						.						58.0	59.0	59.0					1																	177902749		1913	4128	6041	176169372	SO:0001583	missense	89866	exon21			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.2594G>A	1.37:g.177902749C>T	ENSP00000308339:p.Arg865Gln		176169372	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488361	0.26686	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.19250	2.16	5.65	0.136	0.14780	.	0.331874	0.25929	N	0.027390	T	0.14356	0.0347	L	0.52364	1.645	0.09310	N	0.999997	B;B;B;B	0.25312	0.046;0.005;0.123;0.123	B;B;B;B	0.14023	0.008;0.002;0.01;0.003	T	0.32188	-0.9916	10	0.18276	T	0.48	-0.0211	7.0177	0.24897	0.0:0.5399:0.2282:0.2319	.	420;866;865;562	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	Q	865;549;580	ENSP00000308339:R865Q	ENSP00000239472:R580Q	R	-	2	0	AL359075.1	176169372	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.575000	0.05861	-0.528000	0.06366	-0.795000	0.03280	CGA		0.473	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
TOR1AIP1	26092	broad.mit.edu	37	1	179886684	179886684	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:179886684C>A	ENST00000606911.2	+	10	1253	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.F370L|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.F233L|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.F355L			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	354					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)	p.F354L(2)|p.F354F(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GTTTTTGGTTCTTTAGTACTC	0.448																																					p.F354L												TOR1AIP1,central_nervous_system,brain,Substitution - coding silent,0 	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)|central_nervous_system(1)	c.C1062A	1						.						115.0	124.0	121.0					1																	179886684		2203	4300	6503	178153307	SO:0001583	missense	26092	exon10				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1062C>A	1.37:g.179886684C>A	ENSP00000476687:p.Phe354Leu		178153307	NM_015602	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.32|13.32	2.201182|2.201182	0.38905|0.38905	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000528443;ENST00000271583;ENST00000435319|ENST00000447964	T;T;T|.	0.29142|.	1.58;1.58;1.58|.	5.96|5.96	2.95|2.95	0.34219|0.34219	.|.	1.146510|.	0.06179|.	N|.	0.679180|.	T|T	0.33000|0.33000	0.0848|0.0848	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.20075|0.20075	-1.0286|-1.0286	9|5	.|.	.|.	.|.	0.8852|0.8852	5.4225|5.4225	0.16407|0.16407	0.0:0.502:0.2835:0.2145|0.0:0.502:0.2835:0.2145	.|.	354|.	Q5JTV8|.	TOIP1_HUMAN|.	L|Y	355;370;354|89	ENSP00000435365:F355L;ENSP00000271583:F370L;ENSP00000393292:F354L|.	.|.	F|S	+|+	3|2	2|0	TOR1AIP1|TOR1AIP1	178153307|178153307	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.402000|0.402000	0.30811|0.30811	1.464000|1.464000	0.35288|0.35288	0.834000|0.834000	0.34852|0.34852	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.448	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602	
CEP350	9857	broad.mit.edu	37	1	179965890	179965890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:179965890C>T	ENST00000367607.3	+	6	1016	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	200					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R200*(3)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTTAAATGATCGACCAGCAAT	0.393																																					p.R200X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C598T	1						.						80.0	73.0	76.0					1																	179965890		2203	4300	6503	178232513	SO:0001587	stop_gained	9857	exon6			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.598C>T	1.37:g.179965890C>T	ENSP00000356579:p.Arg200*		178232513	NM_014810	O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	38	6.781856	0.97833	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	.	.	.	5.55	1.22	0.21188	.	0.176245	0.26875	N	0.022050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1118	0.42568	0.2587:0.4027:0.3386:0.0	.	.	.	.	X	200;174	.	.	R	+	1	2	CEP350	178232513	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.752000	0.26362	-0.041000	0.13558	0.579000	0.79373	CGA		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
CEP350	9857	broad.mit.edu	37	1	180065174	180065174	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:180065174C>T	ENST00000367607.3	+	36	9339	c.8921C>T	c.(8920-8922)gCg>gTg	p.A2974V	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2974					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A2974V(1)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTATCAAGGCGGTTTTTGAT	0.308																																					p.A2974V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8921T	1						.						23.0	22.0	22.0					1																	180065174		2119	4165	6284	178331797	SO:0001630	splice_region_variant	9857	exon36			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8920-1C>T	1.37:g.180065174C>T			178331797	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540312	0.13250	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.56275	0.47	6.07	3.2	0.36748	.	0.143577	0.31612	N	0.007358	T	0.38480	0.1042	L	0.37561	1.115	0.32538	N	0.534115	B;B	0.16166	0.016;0.005	B;B	0.12837	0.008;0.004	T	0.39623	-0.9605	9	.	.	.	.	9.1265	0.36818	0.0:0.6402:0.0:0.3598	.	2974;2974	E7EU22;Q5VT06	.;CE350_HUMAN	V	2974;438	ENSP00000356579:A2974V	.	A	+	2	0	CEP350	178331797	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.299000	0.43611	0.452000	0.26830	0.585000	0.79938	GCG		0.308	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	Missense_Mutation
QSOX1	5768	broad.mit.edu	37	1	180158779	180158779	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:180158779C>A	ENST00000367602.3	+	9	1184	c.1110C>A	c.(1108-1110)ttC>ttA	p.F370L	QSOX1_ENST00000367600.5_Missense_Mutation_p.F370L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	370					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.F370L(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						CCTACAGTTTCTTTAAAACTG	0.478																																					p.F370L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1110A	1						.						72.0	77.0	75.0					1																	180158779		2203	4300	6503	178425402	SO:0001583	missense	5768	exon9			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.1110C>A	1.37:g.180158779C>A	ENSP00000356574:p.Phe370Leu		178425402	NM_002826	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	C	6.178	0.400958	0.11696	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.16196	3.7;2.36	5.2	-0.826	0.10805	.	0.839141	0.10926	N	0.618945	T	0.10551	0.0258	L	0.36672	1.1	0.09310	N	0.999993	B;B;B	0.12013	0.003;0.001;0.005	B;B;B	0.08055	0.001;0.002;0.003	T	0.37150	-0.9718	10	0.22109	T	0.4	-2.195	4.3017	0.10927	0.2599:0.4732:0.0:0.2669	.	370;370;370	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	L	370	ENSP00000356574:F370L;ENSP00000356572:F370L	ENSP00000356572:F370L	F	+	3	2	QSOX1	178425402	0.011000	0.17503	0.023000	0.16930	0.750000	0.42670	-0.037000	0.12164	-0.081000	0.12662	0.655000	0.94253	TTC		0.478	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826	
XPR1	9213	broad.mit.edu	37	1	180775219	180775219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:180775219C>T	ENST00000367590.4	+	5	667	c.469C>T	c.(469-471)Cga>Tga	p.R157*	XPR1_ENST00000367589.3_Nonsense_Mutation_p.R157*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	157	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.R157*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TACAGGGTTTCGAAAAATCCT	0.383																																					p.R157X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C469T	1						.						50.0	52.0	51.0					1																	180775219		2203	4300	6503	179041842	SO:0001587	stop_gained	9213	exon5			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.469C>T	1.37:g.180775219C>T	ENSP00000356562:p.Arg157*		179041842	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Nonsense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	38	7.145116	0.98092	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5262	18.7999	0.92011	0.0:1.0:0.0:0.0	.	.	.	.	X	157	.	ENSP00000356561:R157X	R	+	1	2	XPR1	179041842	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.992000	0.49417	2.547000	0.85894	0.484000	0.47621	CGA		0.383	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
MR1	3140	broad.mit.edu	37	1	181018257	181018257	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:181018257C>T	ENST00000367580.5	+	2	142	c.137C>T	c.(136-138)tCg>tTg	p.S46L	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.S46L|MR1_ENST00000282990.6_Missense_Mutation_p.S46L|MR1_ENST00000434571.2_Missense_Mutation_p.S46L	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	46	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.S46L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GAATTTATTTCGGTTGGGTAC	0.547																																					p.S46L	Colon(174;1412 1962 45296 46549 47110)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C137T	1						.						55.0	56.0	55.0					1																	181018257		2203	4300	6503	179284880	SO:0001583	missense	3140	exon3			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.137C>T	1.37:g.181018257C>T	ENSP00000356552:p.Ser46Leu		179284880	NM_001531	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024082	0.54683	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.89050	9.49;9.49;9.49;-2.46	4.29	3.35	0.38373	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.950609	0.08691	N	0.907969	D	0.94000	0.8078	M	0.78049	2.395	0.38691	D	0.952758	D;D;D;D;D	0.89917	0.998;0.996;1.0;1.0;0.991	D;P;D;D;P	0.87578	0.992;0.502;0.996;0.998;0.502	D	0.90748	0.4655	9	0.87932	D	0	.	10.121	0.42621	0.0:0.7964:0.2036:0.0	.	46;46;46;46;46	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	L	46	ENSP00000388504:S46L;ENSP00000356552:S46L;ENSP00000282990:S46L;ENSP00000356551:S46L	ENSP00000282990:S46L	S	+	2	0	MR1	179284880	0.004000	0.15560	0.003000	0.11579	0.163000	0.22366	1.363000	0.34159	1.109000	0.41680	0.484000	0.47621	TCG		0.547	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531	
MR1	3140	broad.mit.edu	37	1	181021615	181021615	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:181021615C>T	ENST00000367580.5	+	4	854	c.849C>T	c.(847-849)tgC>tgT	p.C283C	MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.C238C|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	283	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.C283C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TGGAGCACTGCGGTGTCCACA	0.562																																					p.C283C	Colon(174;1412 1962 45296 46549 47110)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	1						.						57.0	62.0	60.0					1																	181021615		2203	4300	6503	179288238	SO:0001819	synonymous_variant	3140	exon5			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.849C>T	1.37:g.181021615C>T			179288238	NM_001531	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	CCDS1342.1																																																																																				0.562	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531	
MR1	3140	broad.mit.edu	37	1	181022719	181022719	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:181022719T>G	ENST00000367580.5	+	5	896	c.891T>G	c.(889-891)acT>acG	p.T297T	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Silent_p.T252T|MR1_ENST00000282990.6_Silent_p.T205T|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	297	Connecting peptide.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.T297T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	AATCAGAAACTATCCCTCTTG	0.463																																					p.T297T	Colon(174;1412 1962 45296 46549 47110)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T891G	1						.						206.0	187.0	193.0					1																	181022719		2203	4300	6503	179289342	SO:0001819	synonymous_variant	3140	exon6			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.891T>G	1.37:g.181022719T>G			179289342	NM_001531	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	CCDS1342.1																																																																																				0.463	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531	
CACNA1E	777	broad.mit.edu	37	1	181680192	181680192	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:181680192G>T	ENST00000367573.2	+	8	1158	c.1158G>T	c.(1156-1158)tgG>tgT	p.W386C	CACNA1E_ENST00000357570.5_Missense_Mutation_p.W337C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.W337C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.W386C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.W386C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.W386C|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	386	Binding to the beta subunit. {ECO:0000250}.				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.W386C(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						ACCGTGCCTGGATAGACAAAG	0.592																																					p.W386C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1158T	1						.						52.0	57.0	55.0					1																	181680192		1990	4168	6158	179946815	SO:0001583	missense	777	exon8			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.1158G>T	1.37:g.181680192G>T	ENSP00000356545:p.Trp386Cys		179946815	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274773	0.80580	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.02	5.02	0.67125	.	1.098050	0.06959	N	0.816000	D	0.97945	0.9324	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.94941	0.8091	10	0.87932	D	0	.	17.9395	0.89022	0.0:0.0:1.0:0.0	.	386;386	Q15878-2;Q15878-3	.;.	C	386;386;386;337;337;386;386	ENSP00000432038:W386C;ENSP00000356542:W386C;ENSP00000434814:W386C;ENSP00000350183:W337C;ENSP00000351101:W337C;ENSP00000353222:W386C;ENSP00000356545:W386C	ENSP00000350183:W337C	W	+	3	0	CACNA1E	179946815	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.717000	0.98755	2.331000	0.79229	0.563000	0.77884	TGG		0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	broad.mit.edu	37	1	181685255	181685255	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:181685255C>T	ENST00000367573.2	+	10	1305	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	CACNA1E_ENST00000357570.5_Silent_p.I386I|CACNA1E_ENST00000358338.5_Silent_p.I386I|CACNA1E_ENST00000367570.1_Silent_p.I435I|CACNA1E_ENST00000360108.3_Silent_p.I435I|CACNA1E_ENST00000526775.1_Silent_p.I435I|CACNA1E_ENST00000367567.4_Silent_p.I42I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	435					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.I435I(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						GTGTTGATATCTCCTCTGTGG	0.502																																					p.I435I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1305T	1						.						75.0	85.0	82.0					1																	181685255		1961	4142	6103	179951878	SO:0001819	synonymous_variant	777	exon10			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.1305C>T	1.37:g.181685255C>T			179951878	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
ACTL8	81569	broad.mit.edu	37	1	18149669	18149669	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:18149669G>T	ENST00000375406.1	+	2	382	c.166G>T	c.(166-168)Gac>Tac	p.D56Y		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	56					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D56Y(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)		CCTGGGCATCGACATTTGCCA	0.572																																					p.D56Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G166T	1						.						134.0	119.0	124.0					1																	18149669		2203	4300	6503	18022256	SO:0001583	missense	81569	exon2			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.166G>T	1.37:g.18149669G>T	ENSP00000364555:p.Asp56Tyr		18022256	NM_030812	Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249533	0.80024	.	.	ENSG00000117148	ENST00000375406	D	0.94650	-3.48	4.98	0.75	0.18387	.	0.337294	0.21390	N	0.075327	D	0.90219	0.6942	L	0.49350	1.555	0.24121	N	0.9958	P	0.35527	0.507	B	0.36418	0.224	D	0.83777	0.0223	10	0.87932	D	0	-46.8186	6.0606	0.19837	0.4579:0.0:0.5421:0.0	.	56	Q9H568	ACTL8_HUMAN	Y	56	ENSP00000364555:D56Y	ENSP00000364555:D56Y	D	+	1	0	ACTL8	18022256	0.999000	0.42202	0.777000	0.31699	0.724000	0.41520	3.131000	0.50515	0.294000	0.22547	0.655000	0.94253	GAC		0.572	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812	
CACNA1E	777	broad.mit.edu	37	1	181724522	181724522	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:181724522G>A	ENST00000367573.2	+	28	3978	c.3978G>A	c.(3976-3978)gaG>gaA	p.E1326E	CACNA1E_ENST00000357570.5_Silent_p.E1277E|CACNA1E_ENST00000358338.5_Silent_p.E1258E|CACNA1E_ENST00000367570.1_Silent_p.E1326E|CACNA1E_ENST00000360108.3_Silent_p.E1307E|CACNA1E_ENST00000526775.1_Silent_p.E1307E|CACNA1E_ENST00000367567.4_Silent_p.E933E	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1326					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.E1326E(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						AGGACACAGAGAAGGAGTGCA	0.483																																					p.E1326E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3978A	1						.						209.0	205.0	206.0					1																	181724522		2122	4247	6369	179991145	SO:0001819	synonymous_variant	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.3978G>A	1.37:g.181724522G>A			179991145	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
LAMC2	3918	broad.mit.edu	37	1	183194772	183194772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:183194772G>A	ENST00000264144.4	+	8	1048	c.983G>A	c.(982-984)aGc>aAc	p.S328N	LAMC2_ENST00000493293.1_Missense_Mutation_p.S328N	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	328	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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.S328N(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						AATAATTGGAGCCCCCAGCTG	0.408																																					p.S328N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983A	1						.						106.0	117.0	113.0					1																	183194772		2203	4300	6503	181461395	SO:0001583	missense	3918	exon8			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.983G>A	1.37:g.183194772G>A	ENSP00000264144:p.Ser328Asn		181461395	NM_018891	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085300	0.36758	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.34859	1.34;1.34	5.06	4.13	0.48395	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.199163	0.45126	D	0.000399	T	0.26593	0.0650	L	0.28115	0.83	0.36111	D	0.844801	P;B;P	0.42010	0.768;0.02;0.726	P;B;B	0.46110	0.504;0.029;0.371	T	0.12268	-1.0554	10	0.16896	T	0.51	.	7.1245	0.25463	0.1485:0.1417:0.7098:0.0	.	328;328;328	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	N	328	ENSP00000432063:S328N;ENSP00000264144:S328N	ENSP00000264144:S328N	S	+	2	0	LAMC2	181461395	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.570000	0.45981	2.336000	0.79503	0.655000	0.94253	AGC		0.408	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
LAMC2	3918	broad.mit.edu	37	1	183196722	183196722	+	Missense_Mutation	SNP	C	C	T	rs147781376		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:183196722C>T	ENST00000264144.4	+	10	1423	c.1358C>T	c.(1357-1359)cCg>cTg	p.P453L	LAMC2_ENST00000493293.1_Missense_Mutation_p.P453L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	453	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.P453Q(1)|p.P453L(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						TACAACGATCCGCACGACCCC	0.562																																					p.P453L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1358T	1						.	C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	138.0	132.0	134.0		1358,1358	5.6	0.2	1	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LAMC2	NM_005562.2,NM_018891.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	453/1194,453/1112	183196722	1,13005	2203	4300	6503	181463345	SO:0001583	missense	3918	exon10			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.1358C>T	1.37:g.183196722C>T	ENSP00000264144:p.Pro453Leu		181463345	NM_018891	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939902	0.73557	0.0	1.16E-4	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.20332	2.24;2.08	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.36082	0.0954	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.998;0.804;0.999	T	0.19811	-1.0294	10	0.72032	D	0.01	.	19.5203	0.95182	0.0:1.0:0.0:0.0	.	453;453;453	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	L	453	ENSP00000432063:P453L;ENSP00000264144:P453L	ENSP00000264144:P453L	P	+	2	0	LAMC2	181463345	0.515000	0.26210	0.195000	0.23364	0.678000	0.39670	3.645000	0.54389	2.609000	0.88269	0.637000	0.83480	CCG		0.562	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
SMG7	9887	broad.mit.edu	37	1	183510187	183510187	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:183510187G>A	ENST00000347615.2	+	13	1483	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q	SMG7_ENST00000515829.2_Missense_Mutation_p.R455Q|SMG7_ENST00000507469.1_Missense_Mutation_p.R455Q|SMG7_ENST00000456731.2_Missense_Mutation_p.R413Q|SMG7_ENST00000367537.3_Missense_Mutation_p.R484Q|SMG7_ENST00000508461.1_Missense_Mutation_p.R413Q	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	455					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)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.R455Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CGACGAATACGACAGCAACGC	0.413																																					p.R413Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1238A	1						.						179.0	167.0	171.0					1																	183510187		2203	4300	6503	181776810	SO:0001583	missense	9887	exon12			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1364G>A	1.37:g.183510187G>A	ENSP00000340766:p.Arg455Gln		181776810	NM_001174061	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571493	0.96553	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	N	0.24115	0.695	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	0.85130	0.994;0.994;0.994;0.997;0.994;0.994	T	0.46843	-0.9162	10	0.87932	D	0	-12.548	19.8215	0.96599	0.0:0.0:1.0:0.0	.	413;484;413;455;455;455	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Q	413;484;413;413;455;455;455	ENSP00000407629:R413Q;ENSP00000356507:R484Q;ENSP00000426915:R413Q;ENSP00000388390:R413Q;ENSP00000340766:R455Q;ENSP00000425133:R455Q;ENSP00000421358:R455Q	ENSP00000340766:R455Q	R	+	2	0	SMG7	181776810	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	7.003000	0.76310	2.679000	0.91253	0.650000	0.86243	CGA		0.413	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	
FAM129A	116496	broad.mit.edu	37	1	184777213	184777213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:184777213G>A	ENST00000367511.3	-	10	1523	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	444					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.Q444*(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						CCCACCTCCTGCATGTAGTTC	0.552																																					p.Q444X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1330T	1						.						138.0	144.0	142.0					1																	184777213		2203	4300	6503	183043836	SO:0001587	stop_gained	116496	exon10			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.1330C>T	1.37:g.184777213G>A	ENSP00000356481:p.Gln444*		183043836	NM_052966	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	38	7.224056	0.98146	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.23	5.23	0.72850	.	0.193216	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-20.1947	16.9967	0.86369	0.0:0.0:1.0:0.0	.	.	.	.	X	444	.	ENSP00000356481:Q444X	Q	-	1	0	FAM129A	183043836	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	6.970000	0.76099	2.438000	0.82558	0.655000	0.94253	CAG		0.552	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		
IVNS1ABP	10625	broad.mit.edu	37	1	185267184	185267184	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:185267184T>G	ENST00000367498.3	-	15	2534	c.1912A>C	c.(1912-1914)Aag>Cag	p.K638Q	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.K420Q|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	638					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.K638Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGGAAAATCTTTGTATAGGGG	0.393																																					p.K638Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1912C	1						.						96.0	103.0	100.0					1																	185267184		2203	4300	6503	183533807	SO:0001583	missense	10625	exon15			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1912A>C	1.37:g.185267184T>G	ENSP00000356468:p.Lys638Gln		183533807	NM_006469	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.285012	0.23392	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.77098	-1.07;-0.58	5.37	5.37	0.77165	.	0.400085	0.30667	N	0.009140	T	0.64918	0.2642	N	0.24115	0.695	0.32503	N	0.538595	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.67841	-0.5566	10	0.42905	T	0.14	.	11.647	0.51267	0.0:0.0:0.1482:0.8518	.	420;638	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	Q	638;420	ENSP00000356468:K638Q;ENSP00000375864:K420Q	ENSP00000356468:K638Q	K	-	1	0	IVNS1ABP	183533807	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.460000	0.53028	2.159000	0.67721	0.455000	0.32223	AAG		0.393	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
HMCN1	83872	broad.mit.edu	37	1	185834875	185834875	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:185834875C>T	ENST00000271588.4	+	4	730	c.501C>T	c.(499-501)gtC>gtT	p.V167V	HMCN1_ENST00000367492.2_Silent_p.V167V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	167	VWFA.				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.V167V(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						AATCATAGGTCGTATTTGTTC	0.343																																					p.V167V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	1						.						60.0	65.0	63.0					1																	185834875		2203	4300	6503	184101498	SO:0001819	synonymous_variant	83872	exon4			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.501C>T	1.37:g.185834875C>T			184101498	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.343	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	185959472	185959472	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:185959472C>A	ENST00000271588.4	+	22	3503	c.3274C>A	c.(3274-3276)Ctt>Att	p.L1092I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.L1092I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1092	Ig-like C2-type 8.				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.L1092I(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						GATCTCCGTCCTTGCAGGGGA	0.473																																					p.L1092I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3274A	1						.						238.0	233.0	235.0					1																	185959472		2203	4300	6503	184226095	SO:0001583	missense	83872	exon22			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.3274C>A	1.37:g.185959472C>A	ENSP00000271588:p.Leu1092Ile		184226095	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251105	0.22880	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66995	-0.24;-0.24	5.79	1.47	0.22746	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.300424	0.34245	N	0.004135	T	0.43144	0.1234	N	0.16567	0.415	0.27621	N	0.948353	B;B	0.11235	0.0;0.004	B;B	0.13407	0.004;0.009	T	0.19712	-1.0297	10	0.20519	T	0.43	.	6.635	0.22877	0.3476:0.4803:0.0:0.1721	.	476;1092	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	I	1092	ENSP00000271588:L1092I;ENSP00000356462:L1092I	ENSP00000271588:L1092I	L	+	1	0	HMCN1	184226095	0.889000	0.30405	0.927000	0.36925	0.993000	0.82548	2.236000	0.43052	0.058000	0.16222	0.655000	0.94253	CTT		0.473	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186008925	186008925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:186008925G>T	ENST00000271588.4	+	39	6323	c.6094G>T	c.(6094-6096)Gaa>Taa	p.E2032*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E2032*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2032	Ig-like C2-type 18.				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.E2032*(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						GGTGAGGTTAGAATGTGAAGC	0.423																																					p.E2032X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6094T	1						.						176.0	164.0	168.0					1																	186008925		2203	4300	6503	184275548	SO:0001587	stop_gained	83872	exon39			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.6094G>T	1.37:g.186008925G>T	ENSP00000271588:p.Glu2032*		184275548	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	49	15.098268	0.99822	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.2473	0.89991	0.0:0.0:1.0:0.0	.	.	.	.	X	2032	.	ENSP00000271588:E2032X	E	+	1	0	HMCN1	184275548	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.342000	0.72982	2.466000	0.83321	0.650000	0.86243	GAA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186059946	186059946	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:186059946G>A	ENST00000271588.4	+	64	10013	c.9784G>A	c.(9784-9786)Gaa>Aaa	p.E3262K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3262K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3262	Ig-like C2-type 31.				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.E3262K(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						CCTTCTAGGAGAAAATGTTGA	0.398																																					p.E3262K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9784A	1						.						132.0	127.0	129.0					1																	186059946		2203	4300	6503	184326569	SO:0001583	missense	83872	exon64			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.9784G>A	1.37:g.186059946G>A	ENSP00000271588:p.Glu3262Lys		184326569	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	36	5.788255	0.96945	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73681	-0.77;-0.77	5.98	5.98	0.97165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.043322	0.85682	D	0.000000	T	0.81564	0.4849	L	0.35723	1.085	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.77807	-0.2450	10	0.33141	T	0.24	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	3262	Q96RW7	HMCN1_HUMAN	K	3262	ENSP00000271588:E3262K;ENSP00000356462:E3262K	ENSP00000271588:E3262K	E	+	1	0	HMCN1	184326569	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.872000	0.63050	2.838000	0.97847	0.591000	0.81541	GAA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
TPR	7175	broad.mit.edu	37	1	186289548	186289548	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	186315386	186315386	+	Missense_Mutation	SNP	G	G	A	rs368340408		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:186315386G>A	ENST00000367478.4	-	23	3273	c.2977C>T	c.(2977-2979)Cgt>Tgt	p.R993C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	993					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.R994C(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)		TCTTTTAAACGAACTTCAATA	0.323			T	NTRK1	papillary thyroid																																p.R993C			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2977T	1						.	G	CYS/ARG	1,3677		0,1,1838	150.0	129.0	135.0		2977	4.8	1.0	1		135	0,8184		0,0,4092	no	missense	TPR	NM_003292.2	180	0,1,5930	AA,AG,GG		0.0,0.0272,0.0084	probably-damaging	993/2364	186315386	1,11861	1839	4092	5931	184582009	SO:0001583	missense	7175	exon23			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.2977C>T	1.37:g.186315386G>A	ENSP00000356448:p.Arg993Cys		184582009	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555253	0.86231	2.72E-4	0.0	ENSG00000047410	ENST00000367478	T	0.25085	1.82	5.75	4.84	0.62591	Prefoldin (1);	0.049750	0.85682	D	0.000000	T	0.37785	0.1016	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.70935	0.971	T	0.25606	-1.0127	10	0.59425	D	0.04	.	15.3027	0.73966	0.0:0.0:0.859:0.141	.	993	P12270	TPR_HUMAN	C	993	ENSP00000356448:R993C	ENSP00000356448:R993C	R	-	1	0	TPR	184582009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.817000	0.69229	1.408000	0.46895	0.650000	0.86243	CGT		0.323	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
PDC	5132	broad.mit.edu	37	1	186413489	186413489	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:186413489C>G	ENST00000391997.2	-	4	450	c.363G>C	c.(361-363)aaG>aaC	p.K121N	PDC_ENST00000456239.2_Missense_Mutation_p.K69N|PDC_ENST00000497198.1_Missense_Mutation_p.K69N|PDC_ENST00000340129.5_Missense_Mutation_p.K121N	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	121	Thioredoxin fold. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)	p.K121N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CTAGGAATTGCTTTCCAGTTT	0.398																																					p.K121N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G363C	1						.						182.0	191.0	188.0					1																	186413489		2203	4300	6503	184680112	SO:0001583	missense	5132	exon4			AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.363G>C	1.37:g.186413489C>G	ENSP00000375855:p.Lys121Asn		184680112	NM_002597	Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416116	0.42918	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.58	3.69	0.42338	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.091982	0.64402	D	0.000001	T	0.27900	0.0687	L	0.27053	0.805	0.20703	N	0.999867	B	0.19200	0.034	B	0.25987	0.065	T	0.20907	-1.0261	10	0.87932	D	0	-11.9282	4.5745	0.12226	0.1573:0.5802:0.0:0.2626	.	121	P20941	PHOS_HUMAN	N	121;69;69;121	ENSP00000375855:K121N;ENSP00000422775:K69N;ENSP00000411564:K69N;ENSP00000342033:K121N	ENSP00000342033:K121N	K	-	3	2	PDC	184680112	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.343000	0.33930	1.349000	0.45751	0.655000	0.94253	AAG		0.398	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577	
PTGS2	5743	broad.mit.edu	37	1	186646955	186646955	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:186646955C>A	ENST00000367468.5	-	5	601	c.465G>T	c.(463-465)aaG>aaT	p.K155N	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	155					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.K155N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CAGGAAGCTGCTTTTTACCTG	0.373																																					p.K155N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G465T	1						.						69.0	71.0	70.0					1																	186646955		2203	4300	6503	184913578	SO:0001583	missense	5743	exon5			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.465G>T	1.37:g.186646955C>A	ENSP00000356438:p.Lys155Asn		184913578	NM_000963	A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447628	0.43429	.	.	ENSG00000073756	ENST00000367468	T	0.68903	-0.36	5.67	1.36	0.22044	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.75777	2.31	0.53005	D	0.99996	B	0.20671	0.047	B	0.25987	0.065	T	0.61802	-0.6988	10	0.62326	D	0.03	-26.911	9.6686	0.39998	0.0:0.4265:0.0:0.5735	.	155	P35354	PGH2_HUMAN	N	155	ENSP00000356438:K155N	ENSP00000356438:K155N	K	-	3	2	PTGS2	184913578	0.885000	0.30320	1.000000	0.80357	0.968000	0.65278	0.004000	0.13106	0.225000	0.20959	0.650000	0.86243	AAG		0.373	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963	
PLA2G4A	5321	broad.mit.edu	37	1	186863312	186863312	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:186863312A>C	ENST00000367466.3	+	5	499	c.347A>C	c.(346-348)gAa>gCa	p.E116A	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E116A|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	116	Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|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 catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.E116A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AAGGTGGGAGAAAAGAAAGAA	0.343																																					p.E116A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A347C	1						.						120.0	118.0	119.0					1																	186863312		2203	4297	6500	185129935	SO:0001583	missense	5321	exon5			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.347A>C	1.37:g.186863312A>C	ENSP00000356436:p.Glu116Ala		185129935	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248562	0.39797	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.63417	-0.04;-0.04	5.71	5.71	0.89125	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.097942	0.64402	D	0.000001	T	0.57666	0.2069	L	0.50333	1.59	0.30822	N	0.737691	B;B	0.16603	0.018;0.009	B;B	0.20184	0.028;0.007	T	0.57487	-0.7803	10	0.30078	T	0.28	-16.5403	15.1853	0.72996	1.0:0.0:0.0:0.0	.	116;116	E7EU42;P47712	.;PA24A_HUMAN	A	116	ENSP00000356436:E116A;ENSP00000406892:E116A	ENSP00000356436:E116A	E	+	2	0	PLA2G4A	185129935	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	8.560000	0.90712	2.171000	0.68590	0.528000	0.53228	GAA		0.343	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
PLA2G4A	5321	broad.mit.edu	37	1	186901918	186901918	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:186901918T>C	ENST00000367466.3	+	8	734	c.582T>C	c.(580-582)ggT>ggC	p.G194G	PLA2G4A_ENST00000442353.2_Silent_p.G134G|PLA2G4A_ENST00000466600.1_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	194	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|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 catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.G194G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CCATATTGGGTTCAGGTGGGG	0.428																																					p.G194G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T582C	1						.						195.0	193.0	194.0					1																	186901918		2203	4300	6503	185168541	SO:0001819	synonymous_variant	5321	exon8			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.582T>C	1.37:g.186901918T>C			185168541	NM_024420	B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	CCDS1372.1																																																																																				0.428	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
CFAP74	85452	broad.mit.edu	37	1	1922360	1922360	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:1922360C>T	ENST00000434971.2	-	2	68	c.36G>A	c.(34-36)gaG>gaA	p.E12E				Q69YW0	CA222_HUMAN		46								p.E12E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGCCAAAAGCTCGTCCTCAG	0.403																																					p.E12E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G36A	1						.						54.0	55.0	54.0					1																	1922360		1907	4122	6029	1912220	SO:0001819	synonymous_variant	85452	exon2																														ENST00000434971.2:c.36G>A	1.37:g.1922360C>T			1912220	NM_001080484		Silent	SNP	ENST00000434971.2	37																																																																																					0.403	C1orf222-201	KNOWN	basic	protein_coding	protein_coding			
TAS1R2	80834	broad.mit.edu	37	1	19166911	19166911	+	Missense_Mutation	SNP	C	C	T	rs536329276		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:19166911C>T	ENST00000375371.3	-	6	1723	c.1702G>A	c.(1702-1704)Gct>Act	p.A568T		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	568					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)	p.A568T(1)		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)	AGGGCCACAGCGATGGTGGGT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19109	0.0		0.0	False		,,,				2504	0.001				p.A568T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1702A	1						.						50.0	51.0	51.0					1																	19166911		2203	4300	6503	19039498	SO:0001583	missense	80834	exon6				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.1702G>A	1.37:g.19166911C>T	ENSP00000364520:p.Ala568Thr		19039498	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	6.005	0.369322	0.11352	.	.	ENSG00000179002	ENST00000375371	D	0.88818	-2.43	5.48	-11.0	0.00169	GPCR, family 3, C-terminal (1);	3.808960	0.00766	N	0.001174	T	0.70945	0.3282	N	0.08118	0	0.09310	N	1	B	0.27882	0.192	B	0.18561	0.022	T	0.66368	-0.5941	10	0.42905	T	0.14	.	3.7755	0.08659	0.3414:0.3527:0.2122:0.0937	.	568	Q8TE23	TS1R2_HUMAN	T	568	ENSP00000364520:A568T	ENSP00000364520:A568T	A	-	1	0	TAS1R2	19039498	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.726000	0.00382	-4.185000	0.00066	-0.302000	0.09304	GCT		0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
PLA2G4A	5321	broad.mit.edu	37	1	186908204	186908204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:186908204G>A	ENST00000367466.3	+	9	912	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E194K|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	254	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|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 catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.E254K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GATTAATGAAGAACTAATGAA	0.353																																					p.E254K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G760A	1						.						149.0	144.0	146.0					1																	186908204		2203	4300	6503	185174827	SO:0001583	missense	5321	exon9			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.760G>A	1.37:g.186908204G>A	ENSP00000356436:p.Glu254Lys		185174827	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424809	0.96111	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.12569	2.67;2.67	5.93	5.93	0.95920	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01007	-1.1483	10	0.32370	T	0.25	-25.6835	19.3388	0.94332	0.0:0.0:1.0:0.0	.	194;254	E7EU42;P47712	.;PA24A_HUMAN	K	254;194	ENSP00000356436:E254K;ENSP00000406892:E194K	ENSP00000356436:E254K	E	+	1	0	PLA2G4A	185174827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.808000	0.96608	0.655000	0.94253	GAA		0.353	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
UBR4	23352	broad.mit.edu	37	1	19440525	19440525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:19440525G>A	ENST00000375254.3	-	76	11269	c.11242C>T	c.(11242-11244)Cga>Tga	p.R3748*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.R3724*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.R3748*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R3741*|UBR4_ENST00000375218.3_Nonsense_Mutation_p.R163*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3748					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R3748*(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGATACACTCGATCAGCTTTG	0.498											OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R3748X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C11242T	1						.						111.0	107.0	108.0					1																	19440525		2203	4300	6503	19313112	SO:0001587	stop_gained	23352	exon76			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11242C>T	1.37:g.19440525G>A	ENSP00000364403:p.Arg3748*	733	19313112	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	47	13.281391	0.99732	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1136	0.72380	0.0:0.0:0.858:0.142	.	.	.	.	X	3748;3748;3741;3724;163	.	ENSP00000364365:R3741X	R	-	1	2	UBR4	19313112	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.296000	0.78790	2.941000	0.99782	0.655000	0.94253	CGA		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19472309	19472309	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:19472309G>A	ENST00000375254.3	-	53	7950	c.7923C>T	c.(7921-7923)ttC>ttT	p.F2641F	UBR4_ENST00000375226.2_Silent_p.F2652F|UBR4_ENST00000375267.2_Silent_p.F2641F|UBR4_ENST00000375217.2_Silent_p.F2669F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F2641F(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGTGCCAAGAAGGCATTCT	0.458																																					p.F2641F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7923T	1						.						152.0	133.0	140.0					1																	19472309		2203	4300	6503	19344896	SO:0001819	synonymous_variant	23352	exon53			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7923C>T	1.37:g.19472309G>A			19344896	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
B3GALT2	8707	broad.mit.edu	37	1	193150133	193150133	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:193150133C>A	ENST00000367434.4	-	2	1315	c.560G>T	c.(559-561)aGa>aTa	p.R187I	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	187					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.R187I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CAAAAATATTCTTGTGATTTG	0.378																																					p.R187I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G560T	1						.						122.0	120.0	121.0					1																	193150133		2203	4299	6502	191416756	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.560G>T	1.37:g.193150133C>A	ENSP00000356404:p.Arg187Ile		191416756	NM_003783	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201948	0.79127	.	.	ENSG00000162630	ENST00000367434	T	0.41065	1.01	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	L	0.49571	1.57	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.49000	-0.8984	10	0.22109	T	0.4	.	19.5048	0.95111	0.0:1.0:0.0:0.0	.	187	O43825	B3GT2_HUMAN	I	187	ENSP00000356404:R187I	ENSP00000356404:R187I	R	-	2	0	B3GALT2	191416756	1.000000	0.71417	0.884000	0.34674	0.927000	0.56198	7.776000	0.85560	2.678000	0.91216	0.650000	0.86243	AGA		0.378	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783	
KCNT2	343450	broad.mit.edu	37	1	196461402	196461402	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:196461402G>T	ENST00000294725.9	-	2	1080	c.165C>A	c.(163-165)aaC>aaA	p.N55K	KCNT2_ENST00000609185.1_Missense_Mutation_p.N55K|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.N55K|KCNT2_ENST00000367433.5_Missense_Mutation_p.N55K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	55					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.N55K(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						TTGATCTCTGGTTTTTTATGA	0.254																																					p.N55K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C165A	1						.						30.0	31.0	30.0					1																	196461402		2140	4234	6374	194728025	SO:0001583	missense	343450	exon2			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.165C>A	1.37:g.196461402G>T	ENSP00000294725:p.Asn55Lys		194728025	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653763	0.67472	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.20069	2.1;2.11;2.35	4.99	3.12	0.35913	.	0.000000	0.64402	D	0.000002	T	0.39436	0.1078	M	0.78916	2.43	0.80722	D	1	P;P;D;P	0.54397	0.858;0.833;0.966;0.858	B;P;P;B	0.57776	0.365;0.569;0.827;0.365	T	0.36311	-0.9753	10	0.56958	D	0.05	-22.9931	11.0525	0.47898	0.164:0.0:0.836:0.0	.	55;55;55;55	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	K	55	ENSP00000356403:N55K;ENSP00000356401:N55K;ENSP00000294725:N55K	ENSP00000294725:N55K	N	-	3	2	KCNT2	194728025	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.540000	0.36115	1.473000	0.48159	0.484000	0.47621	AAC		0.254	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
CFH	3075	broad.mit.edu	37	1	196694406	196694406	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:196694406C>A	ENST00000367429.4	+	12	2092	c.1852C>A	c.(1852-1854)Cct>Act	p.P618T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	618	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.P618T(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGATTGTCTCCTGACCTCCC	0.358																																					p.P618T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1852A	1						.						120.0	113.0	116.0					1																	196694406		2203	4300	6503	194961029	SO:0001583	missense	3075	exon12			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1852C>A	1.37:g.196694406C>A	ENSP00000356399:p.Pro618Thr		194961029	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177116	0.38413	.	.	ENSG00000000971	ENST00000367429	T	0.74421	-0.84	6.04	6.04	0.98038	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.84986	0.5594	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80464	-0.1371	9	0.09843	T	0.71	.	16.0892	0.81080	0.0:1.0:0.0:0.0	.	618	P08603	CFAH_HUMAN	T	618	ENSP00000356399:P618T	ENSP00000356399:P618T	P	+	1	0	CFH	194961029	0.987000	0.35691	0.876000	0.34364	0.005000	0.04900	4.099000	0.57755	2.876000	0.98609	0.650000	0.86243	CCT		0.358	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
ASPM	259266	broad.mit.edu	37	1	197073372	197073372	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:197073372A>G	ENST00000367409.4	-	18	5265	c.5009T>C	c.(5008-5010)gTt>gCt	p.V1670A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1670	IQ 5. {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.V1670A(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						CTTTTTAGAAACATAAGCACG	0.323																																					p.V1670A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5009C	1						.						59.0	60.0	59.0					1																	197073372		2202	4293	6495	195339995	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.5009T>C	1.37:g.197073372A>G	ENSP00000356379:p.Val1670Ala		195339995	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	7.879	0.729805	0.15507	.	.	ENSG00000066279	ENST00000367409	T	0.71817	-0.6	5.68	2.0	0.26442	.	0.656060	0.15575	N	0.255234	T	0.59662	0.2210	N	0.19112	0.55	0.09310	N	0.999999	P	0.41947	0.766	P	0.52031	0.688	T	0.50189	-0.8857	10	0.09843	T	0.71	.	6.1525	0.20320	0.6896:0.1664:0.144:0.0	.	1670	Q8IZT6	ASPM_HUMAN	A	1670	ENSP00000356379:V1670A	ENSP00000356379:V1670A	V	-	2	0	ASPM	195339995	0.003000	0.15002	0.008000	0.14137	0.699000	0.40488	1.769000	0.38522	0.129000	0.18514	0.477000	0.44152	GTT		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	broad.mit.edu	37	1	197099174	197099174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:197099174C>A	ENST00000367409.4	-	8	2756	c.2500G>T	c.(2500-2502)Gaa>Taa	p.E834*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.E84*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.E834*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	834					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.E834*(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						GATATGAGTTCTCCATAAGTT	0.378																																					p.E834X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2500T	1						.						90.0	88.0	89.0					1																	197099174		2203	4300	6503	195365797	SO:0001587	stop_gained	259266	exon8			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.2500G>T	1.37:g.197099174C>A	ENSP00000356379:p.Glu834*		195365797	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	44	10.751106	0.99461	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.3912	0.94583	0.0:1.0:0.0:0.0	.	.	.	.	X	834;834;84	.	ENSP00000294732:E834X	E	-	1	0	ASPM	195365797	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.744000	0.94065	0.650000	0.86243	GAA		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	broad.mit.edu	37	1	197112464	197112464	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:197112464C>A	ENST00000367409.4	-	3	1174	c.918G>T	c.(916-918)ttG>ttT	p.L306F	ASPM_ENST00000294732.7_Missense_Mutation_p.L306F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	306					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.L306F(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						GTGTAATGTTCAAAGTTGAAG	0.323																																					p.L306F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G918T	1						.						69.0	71.0	70.0					1																	197112464		2203	4300	6503	195379087	SO:0001583	missense	259266	exon3			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.918G>T	1.37:g.197112464C>A	ENSP00000356379:p.Leu306Phe		195379087	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891218	0.33442	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.64803	-0.12;1.39	5.38	2.45	0.29901	.	0.158118	0.29537	N	0.011877	T	0.65270	0.2675	M	0.71036	2.16	0.26411	N	0.976258	D;P	0.56521	0.976;0.947	P;B	0.48921	0.595;0.254	T	0.60777	-0.7196	10	0.54805	T	0.06	.	11.4169	0.49958	0.0:0.7918:0.0:0.2082	.	306;306	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	F	306	ENSP00000356379:L306F;ENSP00000294732:L306F	ENSP00000294732:L306F	L	-	3	2	ASPM	195379087	0.007000	0.16637	0.970000	0.41538	0.326000	0.28443	0.384000	0.20668	0.749000	0.32854	-0.170000	0.13304	TTG		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
CRB1	23418	broad.mit.edu	37	1	197396762	197396762	+	Silent	SNP	C	C	T	rs151104285	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:197396762C>T	ENST00000367400.3	+	7	2442	c.2307C>T	c.(2305-2307)cgC>cgT	p.R769R	CRB1_ENST00000544212.1_Silent_p.R250R|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.R700R|CRB1_ENST00000367397.1_Silent_p.R150R|CRB1_ENST00000367399.2_Silent_p.R657R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	769	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H (in dbSNP:rs62636287). {ECO:0000269|PubMed:12843338, ECO:0000269|PubMed:18682808, ECO:0000269|PubMed:20591486}.|R -> Q. {ECO:0000269|PubMed:11231775}.		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.R769R(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						GGCTAGAGCGCGGCAGACTAG	0.418													c|||	6	0.00119808	0.0	0.0029	5008	,	,		20817	0.0		0.004	False		,,,				2504	0.0				p.R769R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2307T	1						.	T	,	6,4400	11.4+/-27.6	0,6,2197	52.0	50.0	51.0		1971,2307	-5.7	0.1	1	dbSNP_134	51	16,8584	11.2+/-40.8	0,16,4284	no	coding-synonymous,coding-synonymous	CRB1	NM_001193640.1,NM_201253.2	,	0,22,6481	TT,TC,CC		0.186,0.1362,0.1692	,	657/1295,769/1407	197396762	22,12984	2203	4300	6503	195663385	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.2307C>T	1.37:g.197396762C>T			195663385	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.418	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
DENND1B	163486	broad.mit.edu	37	1	197522177	197522177	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:197522177C>A	ENST00000367396.3	-	16	1384	c.1215G>T	c.(1213-1215)gaG>gaT	p.E405D	DENND1B_ENST00000400967.2_Missense_Mutation_p.E375D|DENND1B_ENST00000235453.4_Missense_Mutation_p.E375D	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	405					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E375D(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CTGAAGTGATCTCTTCTTCAA	0.338																																					p.E405D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1215T	1						.						107.0	105.0	106.0					1																	197522177		1836	4089	5925	195788800	SO:0001583	missense	163486	exon16			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1215G>T	1.37:g.197522177C>A	ENSP00000356366:p.Glu405Asp		195788800	NM_001195215	B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166239	0.78339	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T;T	0.76578	-1.03;2.75;2.37;2.75	5.59	2.25	0.28309	.	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.81497	2.545	0.46241	D	0.998945	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.976	T	0.83267	-0.0045	10	0.87932	D	0	-27.4085	5.1799	0.15154	0.0:0.5439:0.0:0.4561	.	405;405;375	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	D	45;405;385;375;405;375	ENSP00000375839:E45D;ENSP00000235453:E375D;ENSP00000356366:E405D;ENSP00000383751:E375D	ENSP00000235453:E375D	E	-	3	2	DENND1B	195788800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.730000	0.26043	0.856000	0.35383	-0.142000	0.14014	GAG		0.338	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977	
PTPRC	5788	broad.mit.edu	37	1	198721464	198721464	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:198721464T>G	ENST00000367376.2	+	30	3459	c.3288T>G	c.(3286-3288)acT>acG	p.T1096T	PTPRC_ENST00000352140.3_Silent_p.T1048T|PTPRC_ENST00000594404.1_Silent_p.T935T|PTPRC_ENST00000442510.2_Silent_p.T1098T|PTPRC_ENST00000348564.6_Silent_p.T937T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1096	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T1096T(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						AATCTTCAACTTATACCCTTC	0.363																																					p.T935T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2805G	1						.						121.0	114.0	116.0					1																	198721464		2203	4300	6503	196988087	SO:0001819	synonymous_variant	5788	exon27			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.3288T>G	1.37:g.198721464T>G			196988087	NM_080921	A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37																																																																																					0.363	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PTPRC	5788	broad.mit.edu	37	1	198721737	198721737	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:198721737A>G	ENST00000367376.2	+	31	3510	c.3339A>G	c.(3337-3339)cgA>cgG	p.R1113R	PTPRC_ENST00000352140.3_Silent_p.R1065R|PTPRC_ENST00000594404.1_Silent_p.R952R|PTPRC_ENST00000442510.2_Silent_p.R1115R|PTPRC_ENST00000348564.6_Silent_p.R954R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1113	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1113R(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						AAGACTCTCGAACTGTGTACC	0.373																																					p.R952R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2856G	1						.						67.0	70.0	69.0					1																	198721737		2203	4300	6503	196988360	SO:0001819	synonymous_variant	5788	exon28			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.3339A>G	1.37:g.198721737A>G			196988360	NM_080921	A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37																																																																																					0.373	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
ZNF281	23528	broad.mit.edu	37	1	200378137	200378137	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:200378137C>T	ENST00000294740.3	-	2	821	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	ZNF281_ENST00000367353.1_Missense_Mutation_p.A233T|ZNF281_ENST00000367352.3_Missense_Mutation_p.A197T	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	233					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|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)|transcription regulatory region DNA binding (GO:0044212)	p.A233T(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTCCTCTTGGCTTTGATTCCC	0.488																																					p.A233T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	1						.						181.0	164.0	170.0					1																	200378137		2203	4300	6503	198644760	SO:0001583	missense	23528	exon2			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.697G>A	1.37:g.200378137C>T	ENSP00000294740:p.Ala233Thr		198644760	NM_012482	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164818	0.57476	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.08102	3.13;3.13;3.13	5.64	5.64	0.86602	.	0.064405	0.64402	D	0.000009	T	0.17916	0.0430	L	0.33485	1.01	0.43729	D	0.996214	D;D	0.89917	0.993;1.0	D;D	0.80764	0.984;0.994	T	0.09143	-1.0688	10	0.10377	T	0.69	-0.3442	17.8955	0.88886	0.0:1.0:0.0:0.0	.	197;233	A6NF48;Q9Y2X9	.;ZN281_HUMAN	T	233;233;197	ENSP00000294740:A233T;ENSP00000356322:A233T;ENSP00000356321:A197T	ENSP00000294740:A233T	A	-	1	0	ZNF281	198644760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.564000	0.53791	2.644000	0.89710	0.655000	0.94253	GCC		0.488	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482	
GPR25	2848	broad.mit.edu	37	1	200842915	200842915	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:200842915G>A	ENST00000304244.2	+	1	833	c.750G>A	c.(748-750)gaG>gaA	p.E250E		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	250					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.E250E(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TCGCCATCGAGAGCACGTTTG	0.716																																					p.E250E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G750A	1						.						29.0	33.0	32.0					1																	200842915		2202	4296	6498	199109538	SO:0001819	synonymous_variant	2848	exon1			U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.750G>A	1.37:g.200842915G>A			199109538	NM_005298	A0AVJ5	Silent	SNP	ENST00000304244.2	37	CCDS1405.1																																																																																				0.716	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298	
KDM5B	10765	broad.mit.edu	37	1	202701012	202701012	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:202701012C>T	ENST00000367265.3	-	24	5129	c.3965G>A	c.(3964-3966)aGa>aAa	p.R1322K	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1358K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1322					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R1322K(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATATGAGGTTCTGTTGTCCCA	0.413																																					p.R1322K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3965A	1						.						110.0	106.0	107.0					1																	202701012		2203	4300	6503	200967635	SO:0001583	missense	10765	exon24			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3965G>A	1.37:g.202701012C>T	ENSP00000356234:p.Arg1322Lys		200967635	NM_006618	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563220	0.27915	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.85171	-1.84;-1.65;-1.95	5.78	5.78	0.91487	.	0.041893	0.85682	D	0.000000	D	0.84857	0.5565	L	0.45228	1.405	0.47441	D	0.999429	D;B	0.54601	0.967;0.275	P;B	0.53102	0.718;0.127	T	0.79487	-0.1783	10	0.05959	T	0.93	-13.2305	18.5469	0.91050	0.0:1.0:0.0:0.0	.	1358;1322	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	1322;1164;1358;1164	ENSP00000356234:R1322K;ENSP00000356233:R1358K;ENSP00000235790:R1164K	ENSP00000235790:R1164K	R	-	2	0	KDM5B	200967635	1.000000	0.71417	0.964000	0.40570	0.999000	0.98932	2.824000	0.48088	2.894000	0.99253	0.655000	0.94253	AGA		0.413	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
CHI3L1	1116	broad.mit.edu	37	1	203152851	203152851	+	Missense_Mutation	SNP	C	C	T	rs147131854	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:203152851C>T	ENST00000255409.3	-	5	508	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	128					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.R128H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GCCATGGGTGCGCAGAAATGG	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		22573	0.0		0.0	False		,,,				2504	0.002				p.R128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	1						.	C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	136.0	109.0	118.0		383	5.7	0.9	1	dbSNP_134	118	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CHI3L1	NM_001276.2	29	0,10,6493	TT,TC,CC		0.0581,0.1135,0.0769	probably-damaging	128/384	203152851	10,12996	2203	4300	6503	201419474	SO:0001583	missense	1116	exon5			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.383G>A	1.37:g.203152851C>T	ENSP00000255409:p.Arg128His		201419474	NM_001276	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787628	0.70337	0.001135	5.81E-4	ENSG00000133048	ENST00000255409	T	0.07114	3.22	5.69	5.69	0.88448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.50627	D	0.000104	T	0.35799	0.0944	M	0.87456	2.885	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.15407	-1.0438	10	0.62326	D	0.03	-35.3845	17.3057	0.87194	0.0:1.0:0.0:0.0	.	128	P36222	CH3L1_HUMAN	H	128	ENSP00000255409:R128H	ENSP00000255409:R128H	R	-	2	0	CHI3L1	201419474	1.000000	0.71417	0.910000	0.35882	0.095000	0.18619	7.061000	0.76699	2.664000	0.90586	0.655000	0.94253	CGC		0.532	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276	
CHIT1	1118	broad.mit.edu	37	1	203188394	203188394	+	Missense_Mutation	SNP	G	G	A	rs536102546	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:203188394G>A	ENST00000367229.1	-	9	1013	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	CHIT1_ENST00000255427.3_Missense_Mutation_p.R308W|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.R318W	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	327					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.R327W(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGGTTGTCCCGGAAGATGTAG	0.587																																					p.R327W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C979T	1						.						139.0	128.0	132.0					1																	203188394		2203	4300	6503	201455017	SO:0001583	missense	1118	exon9			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.979C>T	1.37:g.203188394G>A	ENSP00000356198:p.Arg327Trp		201455017	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154837	0.38021	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.05925	3.37;3.37;3.37	5.2	4.28	0.50868	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.616396	0.14461	N	0.318200	T	0.13756	0.0333	L	0.49256	1.55	0.28130	N	0.930242	D;B;D	0.71674	0.997;0.071;0.998	P;B;P	0.54924	0.764;0.008;0.668	T	0.04165	-1.0972	10	0.56958	D	0.05	-8.6541	10.8555	0.46796	0.0:0.0:0.657:0.343	.	327;318;327	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	W	327;308;318	ENSP00000356198:R327W;ENSP00000255427:R308W;ENSP00000438078:R318W	ENSP00000255427:R308W	R	-	1	2	CHIT1	201455017	0.997000	0.39634	0.014000	0.15608	0.724000	0.41520	1.887000	0.39698	1.145000	0.42336	0.655000	0.94253	CGG		0.587	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465	
ATP2B4	493	broad.mit.edu	37	1	203668667	203668667	+	Missense_Mutation	SNP	C	C	A	rs376893107		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:203668667C>A	ENST00000357681.5	+	4	1594	c.471C>A	c.(469-471)ttC>ttA	p.F157L	ATP2B4_ENST00000341360.2_Missense_Mutation_p.F157L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.F157L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.F157L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.F157L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	157					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.F157L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCATCCTTTTCTCAGTGATCA	0.502																																					p.F157L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C471A	1						.						141.0	139.0	139.0					1																	203668667		2203	4300	6503	201935290	SO:0001583	missense	493	exon4			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.471C>A	1.37:g.203668667C>A	ENSP00000350310:p.Phe157Leu		201935290	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	5.901	0.350268	0.11182	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.19	2.06	0.26882	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.396912	0.21936	N	0.066955	T	0.59293	0.2183	N	0.00514	-1.41	0.46725	D	0.999172	B;B;B	0.11235	0.004;0.0;0.002	B;B;B	0.17098	0.017;0.002;0.007	T	0.60944	-0.7162	10	0.02654	T	1	-15.6013	5.5236	0.16945	0.1279:0.6273:0.1251:0.1197	.	157;157;157	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	L	157	ENSP00000350310:F157L;ENSP00000356187:F157L;ENSP00000356188:F157L;ENSP00000375816:F157L;ENSP00000340930:F157L	ENSP00000340930:F157L	F	+	3	2	ATP2B4	201935290	0.993000	0.37304	0.866000	0.34008	0.988000	0.76386	0.452000	0.21795	1.163000	0.42636	0.655000	0.94253	TTC		0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
REN	5972	broad.mit.edu	37	1	204125866	204125866	+	Missense_Mutation	SNP	C	C	T	rs267598319		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:204125866C>T	ENST00000272190.8	-	7	785	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	REN_ENST00000367195.2_Missense_Mutation_p.E250K	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	253					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.E253K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAATTCCCTTCGTAATGCTGG	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18262	0.0		0.0	False		,,,				2504	0.0				p.E253K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757A	1						.						75.0	77.0	76.0					1																	204125866		2203	4300	6503	202392489	SO:0001583	missense	5972	exon7			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.757G>A	1.37:g.204125866C>T	ENSP00000272190:p.Glu253Lys		202392489	NM_000537	Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	0.714	-0.786139	0.02907	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.56103	0.48;0.48	5.07	3.09	0.35607	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.215738	0.44902	D	0.000405	T	0.24122	0.0584	N	0.04508	-0.205	0.27036	N	0.964127	B	0.24920	0.114	B	0.16722	0.016	T	0.17992	-1.0351	10	0.13853	T	0.58	.	7.7968	0.29152	0.0:0.2875:0.4298:0.2827	.	253	P00797	RENI_HUMAN	K	250;172;253	ENSP00000356163:E250K;ENSP00000272190:E253K	ENSP00000272190:E253K	E	-	1	0	REN	202392489	1.000000	0.71417	0.990000	0.47175	0.064000	0.16182	2.968000	0.49224	0.462000	0.27095	-0.300000	0.09419	GAA		0.498	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	
NFASC	23114	broad.mit.edu	37	1	204942523	204942523	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:204942523G>A	ENST00000401399.1	+	11	1454	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	NFASC_ENST00000367170.4_Missense_Mutation_p.A419T|NFASC_ENST00000338515.6_Missense_Mutation_p.A419T|NFASC_ENST00000539706.1_Missense_Mutation_p.A430T|NFASC_ENST00000367172.4_Missense_Mutation_p.A419T|NFASC_ENST00000513543.1_Missense_Mutation_p.A430T|NFASC_ENST00000404076.1_Missense_Mutation_p.A413T|NFASC_ENST00000338586.6_Missense_Mutation_p.A419T|NFASC_ENST00000367171.4_Missense_Mutation_p.A419T|NFASC_ENST00000339876.6_Missense_Mutation_p.A419T|NFASC_ENST00000367169.4_Missense_Mutation_p.A419T|NFASC_ENST00000403080.1_Missense_Mutation_p.A419T|NFASC_ENST00000404907.1_Missense_Mutation_p.A430T|NFASC_ENST00000360049.4_Missense_Mutation_p.A430T			O94856	NFASC_HUMAN	neurofascin	419	Ig-like C2-type 4.				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.A430T(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)			CTACCTGCTGGCCAACGCCTT	0.607																																					p.A430T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1288A	1						.						246.0	161.0	190.0					1																	204942523		2203	4300	6503	203209146	SO:0001583	missense	23114	exon10			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.1255G>A	1.37:g.204942523G>A	ENSP00000385637:p.Ala419Thr		203209146	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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.014842|5.014842	0.93404|0.93404	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.68624|.	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.53938|.	D|.	0.000056|.	T|.	0.70996|.	0.3288|.	L|L	0.53561|0.53561	1.675|1.675	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;P;D;D|.	0.76494|.	0.996;0.999;0.997;0.96;0.897;0.998;0.98|.	D;P;D;P;P;D;P|.	0.66602|.	0.909;0.899;0.945;0.664;0.507;0.936;0.706|.	T|.	0.68232|.	-0.5463|.	10|.	0.54805|.	T|.	0.06|.	.|.	18.5437|18.5437	0.91039|0.91039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	430;430;515;419;419;430;419|.	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.;.|.	T|X	419;419;419;419;419;419;430;430;430;419;419;413;419;430;430;406|388	ENSP00000356140:A419T;ENSP00000356139:A419T;ENSP00000356138:A419T;ENSP00000342128:A419T;ENSP00000344786:A419T;ENSP00000343509:A419T;ENSP00000438614:A430T;ENSP00000353154:A430T;ENSP00000356137:A419T;ENSP00000384875:A419T;ENSP00000385676:A413T;ENSP00000385637:A419T;ENSP00000384061:A430T;ENSP00000425908:A430T;ENSP00000415031:A406T|.	ENSP00000295776:A430T|.	A|W	+|+	1|3	0|0	NFASC|NFASC	203209146|203209146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	7.859000|7.859000	0.86982|0.86982	2.479000|2.479000	0.83701|0.83701	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
NFASC	23114	broad.mit.edu	37	1	204966528	204966528	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:204966528G>A	ENST00000401399.1	+	24	3212	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	NFASC_ENST00000367170.4_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.E1112K|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.E1112K|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.E1097K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1005K|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron			O94856	NFASC_HUMAN	neurofascin	1112	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.E1005K(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)			TAAGATACACGAATCCGGTAC	0.672																																					p.E1005K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3013A	1						.						339.0	346.0	344.0					1																	204966528		1436	3275	4711	203233151	SO:0001583	missense	23114	exon25			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.3013G>A	1.37:g.204966528G>A	ENSP00000385637:p.Glu1005Lys		203233151	NM_001005388	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	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007696	0.54361	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000338515;ENST00000339876;ENST00000401399;ENST00000447819	T;T;T;T;T;T	0.78924	-0.05;-0.12;-0.06;-0.06;-0.06;-1.22	4.96	4.96	0.65561	.	1.053330	0.07588	N	0.921493	T	0.62853	0.2462	.	.	.	0.80722	D	1	P;B	0.50710	0.938;0.117	B;B	0.40901	0.343;0.043	T	0.58250	-0.7669	9	0.05721	T	0.95	.	13.7299	0.62781	0.0:0.0:1.0:0.0	.	1112;1005	O94856-7;O94856-9	.;.	K	1112;1097;1112;1005;1005;73	ENSP00000356140:E1112K;ENSP00000356139:E1097K;ENSP00000342128:E1112K;ENSP00000344786:E1005K;ENSP00000385637:E1005K;ENSP00000416891:E73K	ENSP00000342128:E1112K	E	+	1	0	NFASC	203233151	0.997000	0.39634	0.969000	0.41365	0.979000	0.70002	4.815000	0.62634	2.306000	0.77630	0.655000	0.94253	GAA		0.672	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
PLA2G2F	64600	broad.mit.edu	37	1	20470016	20470016	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:20470016T>C	ENST00000375102.3	+	3	349	c.247T>C	c.(247-249)Tcc>Ccc	p.S83P		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	40					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.S83P(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)		CGCCATCCTGTCCTTCGTGGG	0.647																																					p.S83P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T247C	1						.						94.0	79.0	84.0					1																	20470016		2203	4300	6503	20342603	SO:0001583	missense	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.247T>C	1.37:g.20470016T>C	ENSP00000364243:p.Ser83Pro		20342603	NM_022819	Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	37	CCDS204.2	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772031	0.69992	.	.	ENSG00000158786	ENST00000375102	T	0.28255	1.62	5.25	1.23	0.21249	.	0.336884	0.25922	N	0.027440	T	0.54565	0.1866	M	0.90145	3.09	0.35226	D	0.77648	D	0.76494	0.999	D	0.68192	0.956	T	0.62282	-0.6887	10	0.72032	D	0.01	-19.8924	6.697	0.23205	0.1354:0.0:0.4201:0.4445	.	83	Q9BZM2-2	.	P	83	ENSP00000364243:S83P	ENSP00000364243:S83P	S	+	1	0	PLA2G2F	20342603	0.998000	0.40836	0.998000	0.56505	0.926000	0.56050	0.739000	0.26173	-0.003000	0.14444	0.460000	0.39030	TCC		0.647	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819	
RBBP5	5929	broad.mit.edu	37	1	205064086	205064086	+	Silent	SNP	C	C	T	rs201696530		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:205064086C>T	ENST00000264515.6	-	13	1644	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P	RBBP5_ENST00000367164.1_Intron	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	501					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.P501P(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)			TGTAGAGTTTCGGTTTAAATG	0.493																																					p.P501P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1503A	1						.						157.0	149.0	152.0					1																	205064086		2203	4300	6503	203330709	SO:0001819	synonymous_variant	5929	exon13			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.1503G>A	1.37:g.205064086C>T			203330709	NM_005057	A8K272|Q7Z6D8|Q8NDZ7	Silent	SNP	ENST00000264515.6	37	CCDS30983.1																																																																																				0.493	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	
PM20D1	148811	broad.mit.edu	37	1	205813958	205813958	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:205813958G>T	ENST00000367136.4	-	4	601	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	186					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.S186Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ATGGCCCAGAGAAATGAAGAA	0.512																																					p.S186Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557A	1						.						88.0	84.0	85.0					1																	205813958		2203	4300	6503	204080581	SO:0001583	missense	148811	exon4				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.557C>A	1.37:g.205813958G>T	ENSP00000356104:p.Ser186Tyr		204080581	NM_152491	Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749812	0.49257	.	.	ENSG00000162877	ENST00000367136	T	0.51574	0.7	5.8	4.89	0.63831	.	0.507350	0.23731	N	0.045123	T	0.58308	0.2113	M	0.68728	2.09	0.27596	N	0.949133	D	0.55800	0.973	P	0.56163	0.793	T	0.57266	-0.7841	10	0.87932	D	0	.	9.5056	0.39044	0.0784:0.2459:0.6757:0.0	.	186	Q6GTS8	P20D1_HUMAN	Y	186	ENSP00000356104:S186Y	ENSP00000356104:S186Y	S	-	2	0	PM20D1	204080581	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.906000	0.63293	1.473000	0.48159	0.561000	0.74099	TCT		0.512	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491	
C1orf186	440712	broad.mit.edu	37	1	206240187	206240187	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:206240187C>T	ENST00000331555.5	-	5	903	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	89						integral component of membrane (GO:0016021)		p.D89N(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)			GAGGGTGTGTCGCTGTCATCT	0.493																																					p.D89N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	1						.						160.0	132.0	142.0					1																	206240187		2203	4300	6503	204406810	SO:0001583	missense	440712	exon5			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.265G>A	1.37:g.206240187C>T	ENSP00000356093:p.Asp89Asn		204406810	NM_001007544		Missense_Mutation	SNP	ENST00000331555.5	37	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832751	0.32421	.	.	ENSG00000196533	ENST00000331555	.	.	.	4.9	0.211	0.15236	.	0.697072	0.11820	N	0.526290	T	0.19327	0.0464	N	0.20986	0.625	0.21897	N	0.999485	B	0.25169	0.119	B	0.16722	0.016	T	0.18304	-1.0341	9	0.30854	T	0.27	-5.4973	4.3435	0.11122	0.0:0.4083:0.3502:0.2415	.	89	Q6ZWK4	CA186_HUMAN	N	89	.	ENSP00000356093:D89N	D	-	1	0	C1orf186	204406810	0.000000	0.05858	0.720000	0.30636	0.817000	0.46193	-0.003000	0.12901	-0.171000	0.10797	0.655000	0.94253	GAC		0.493	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544	
IKBKE	9641	broad.mit.edu	37	1	206651534	206651534	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:206651534G>T	ENST00000367120.3	+	9	1217	c.844G>T	c.(844-846)Gcc>Tcc	p.A282S	IKBKE_ENST00000537984.1_Missense_Mutation_p.A197S	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.A282S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCCCATCCTGGCCAACATCCT	0.612																																					p.A282S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844T	1						.						68.0	58.0	62.0					1																	206651534		2203	4300	6503	204718157	SO:0001583	missense	9641	exon9			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.844G>T	1.37:g.206651534G>T	ENSP00000356087:p.Ala282Ser		204718157	NM_001193322	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	g	31	5.100362	0.94245	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.40756	1.02;1.88	5.31	5.31	0.75309	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.37897	1.145	0.58432	D	0.999995	D;D	0.89917	0.998;1.0	D;D	0.77557	0.975;0.99	T	0.54603	-0.8269	10	0.44086	T	0.13	0.377	18.9825	0.92760	0.0:0.0:1.0:0.0	.	197;282	Q3B754;Q14164	.;IKKE_HUMAN	S	282;197	ENSP00000356087:A282S;ENSP00000444529:A197S	ENSP00000356087:A282S	A	+	1	0	IKBKE	204718157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.496000	0.84212	0.556000	0.70494	GCC		0.612	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		
RASSF5	83593	broad.mit.edu	37	1	206731009	206731009	+	Intron	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:206731009A>C	ENST00000355294.4	+	2	636				RASSF5_ENST00000304534.8_Missense_Mutation_p.K36N|RASSF5_ENST00000367117.3_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K36N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CGCAGAGCAAACATCTTTCAA	0.473																																					p.K36N	GBM(162;656 1984 11916 22872 31529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A108C	1						.						90.0	87.0	88.0					1																	206731009		2203	4300	6503	204797632	SO:0001627	intron_variant	83593	exon1			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.579+19387A>C	1.37:g.206731009A>C			204797632	NM_182665	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.155541	0.38021	.	.	ENSG00000136653	ENST00000304534	T	0.13778	2.56	5.72	0.651	0.17817	.	.	.	.	.	T	0.12092	0.0294	L	0.46157	1.445	0.09310	N	0.999993	B	0.29162	0.235	B	0.32864	0.154	T	0.38520	-0.9657	9	0.17832	T	0.49	.	8.4401	0.32810	0.5923:0.0:0.4077:0.0	.	36	Q8WWW0-2	.	N	36	ENSP00000306091:K36N	ENSP00000306091:K36N	K	+	3	2	RASSF5	204797632	0.122000	0.22280	0.525000	0.27900	0.747000	0.42532	0.537000	0.23144	0.103000	0.17682	0.533000	0.62120	AAA		0.473	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437	
MAPKAPK2	9261	broad.mit.edu	37	1	206902418	206902418	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:206902418G>A	ENST00000367103.3	+	3	651	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.R153Q	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	153	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.R153Q(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)			ATCCAGGATCGAGGAGACCAG	0.577																																					p.R153Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	1						.						64.0	58.0	60.0					1																	206902418		2203	4300	6503	204969041	SO:0001583	missense	9261	exon3			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.458G>A	1.37:g.206902418G>A	ENSP00000356070:p.Arg153Gln		204969041	NM_032960	Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222706	0.95139	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.51325	0.71;0.71	5.31	5.31	0.75309	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	0.57007	0.2024	L	0.28458	0.855	0.80722	D	1	P;D	0.89917	0.845;1.0	B;D	0.64687	0.208;0.928	T	0.60782	-0.7195	9	0.72032	D	0.01	-6.5809	17.555	0.87888	0.0:0.0:1.0:0.0	.	153;153	P49137;P49137-2	MAPK2_HUMAN;.	Q	153	ENSP00000294981:R153Q;ENSP00000356070:R153Q	ENSP00000294981:R153Q	R	+	2	0	MAPKAPK2	204969041	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.481000	0.83766	0.655000	0.94253	CGA		0.577	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759	
IL10	3586	broad.mit.edu	37	1	206944309	206944309	+	Silent	SNP	C	C	T	rs560908141		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:206944309C>T	ENST00000423557.1	-	3	379	c.321G>A	c.(319-321)gcG>gcA	p.A107A	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	107					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|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)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)	p.A107A(2)		endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTTCACATGCGCCTTGATGT	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20207	0.0		0.0	False		,,,				2504	0.0				p.A107A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G321A	1						.						153.0	144.0	147.0					1																	206944309		2203	4300	6503	205010932	SO:0001819	synonymous_variant	3586	exon3			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.321G>A	1.37:g.206944309C>T			205010932	NM_000572		Silent	SNP	ENST00000423557.1	37	CCDS1467.1																																																																																				0.542	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	
IL10	3586	broad.mit.edu	37	1	206945754	206945754	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:206945754G>A	ENST00000423557.1	-	1	85	c.27C>T	c.(25-27)tgC>tgT	p.C9C	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	9					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|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)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)	p.C9C(1)		endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAGGACCAGGCAACAGAGCA	0.572																																					p.C9C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C27T	1						.						98.0	76.0	84.0					1																	206945754		2203	4300	6503	205012377	SO:0001819	synonymous_variant	3586	exon1			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.27C>T	1.37:g.206945754G>A			205012377	NM_000572		Silent	SNP	ENST00000423557.1	37	CCDS1467.1																																																																																				0.572	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	
CR2	1380	broad.mit.edu	37	1	207646416	207646416	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:207646416G>T	ENST00000367058.3	+	10	2059	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	CR2_ENST00000458541.2_Missense_Mutation_p.D597Y|CR2_ENST00000367059.3_Missense_Mutation_p.D624Y|CR2_ENST00000367057.3_Missense_Mutation_p.D624Y	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	624	Sushi 10. {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.D624Y(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						TTTCTACAATGACACTGTGAC	0.428																																					p.D624Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1870T	1						.						94.0	92.0	93.0					1																	207646416		2203	4300	6503	205713039	SO:0001583	missense	1380	exon10			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.1870G>T	1.37:g.207646416G>T	ENSP00000356025:p.Asp624Tyr		205713039	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167093	0.57476	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.77	4.85	0.62838	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.81847	0.4909	M	0.85945	2.785	0.35200	D	0.774162	D;D;D;D	0.89917	1.0;0.997;0.999;0.999	D;D;D;D	0.79108	0.992;0.981;0.988;0.976	D	0.87991	0.2749	9	0.66056	D	0.02	.	11.1472	0.48436	0.0857:0.0:0.9143:0.0	.	624;624;624;624	C9JHD2;Q5SR47;P20023;P20023-3	.;.;CR2_HUMAN;.	Y	624;624;624;597	ENSP00000356025:D624Y;ENSP00000356024:D624Y;ENSP00000356026:D624Y;ENSP00000404222:D597Y	ENSP00000356024:D624Y	D	+	1	0	CR2	205713039	1.000000	0.71417	0.989000	0.46669	0.753000	0.42808	2.711000	0.47177	1.412000	0.46977	0.655000	0.94253	GAC		0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
PLXNA2	5362	broad.mit.edu	37	1	208206680	208206680	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:208206680C>T	ENST00000367033.3	-	28	5796	c.5039G>A	c.(5038-5040)cGg>cAg	p.R1680Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1680					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R1680Q(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCCAGTAGCCGGGTCAGGTA	0.582																																					p.R1680Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G5039A	1						.						125.0	111.0	116.0					1																	208206680		2203	4300	6503	206273303	SO:0001583	missense	5362	exon28			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5039G>A	1.37:g.208206680C>T	ENSP00000356000:p.Arg1680Gln		206273303	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646133	0.96704	.	.	ENSG00000076356	ENST00000367033	T	0.18016	2.24	5.33	5.33	0.75918	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.113142	0.64402	D	0.000018	T	0.55321	0.1913	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68379	-0.5424	10	0.87932	D	0	.	19.053	0.93053	0.0:1.0:0.0:0.0	.	1680	O75051	PLXA2_HUMAN	Q	1680	ENSP00000356000:R1680Q	ENSP00000356000:R1680Q	R	-	2	0	PLXNA2	206273303	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.538000	0.82048	2.499000	0.84300	0.655000	0.94253	CGG		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
TRAF3IP3	80342	broad.mit.edu	37	1	209948748	209948748	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:209948748A>C	ENST00000367024.1	+	10	1345	c.829A>C	c.(829-831)Aac>Cac	p.N277H	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.N13H|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.N13H|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.N257H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.N257H|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.N257H|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.N277H			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	277						integral component of membrane (GO:0016021)		p.N257H(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGACCAGAAAAACAGCTATGA	0.438																																					p.N277H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A829C	1						.						73.0	74.0	74.0					1																	209948748		2203	4300	6503	208015371	SO:0001583	missense	80342	exon10				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.829A>C	1.37:g.209948748A>C	ENSP00000355991:p.Asn277His		208015371	NM_025228	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	A	7.075	0.569157	0.13560	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T;T	0.78481	-1.17;-1.18;-1.18;-1.18;-1.18;1.08;-1.16;1.03	5.3	3.04	0.35103	.	0.599365	0.17441	N	0.174111	T	0.49949	0.1587	N	0.04203	-0.255	0.24854	N	0.992384	B;B;B;B	0.10296	0.003;0.003;0.001;0.001	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.32771	-0.9894	10	0.11182	T	0.66	-4.4665	6.0458	0.19760	0.5356:0.3629:0.1015:0.0	.	277;257;277;257	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	H	257;277;260;257;277;257;13;13;13	ENSP00000383743:N257H;ENSP00000355992:N277H;ENSP00000355993:N257H;ENSP00000355991:N277H;ENSP00000010338:N257H;ENSP00000355990:N13H;ENSP00000418906:N13H;ENSP00000417417:N13H	ENSP00000010338:N257H	N	+	1	0	TRAF3IP3	208015371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.856000	0.39389	0.868000	0.35678	0.460000	0.39030	AAC		0.438	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		
TRAF3IP3	80342	broad.mit.edu	37	1	209951514	209951514	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:209951514G>A	ENST00000367024.1	+	13	1764	c.1248G>A	c.(1246-1248)ttG>ttA	p.L416L	TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367023.1_Silent_p.L152L|TRAF3IP3_ENST00000367026.3_Silent_p.L396L|TRAF3IP3_ENST00000010338.4_Silent_p.L396L|TRAF3IP3_ENST00000400959.3_Silent_p.L396L|TRAF3IP3_ENST00000367025.3_Silent_p.L416L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	416						integral component of membrane (GO:0016021)		p.L396L(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TACAGCAGTTGCAGGGTAAGT	0.483																																					p.L416L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1248A	1						.						102.0	101.0	101.0					1																	209951514		2203	4300	6503	208018137	SO:0001819	synonymous_variant	80342	exon13				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1248G>A	1.37:g.209951514G>A			208018137	NM_025228	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	CCDS1490.2																																																																																				0.483	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		
SYT14	255928	broad.mit.edu	37	1	210273697	210273697	+	Missense_Mutation	SNP	G	G	A	rs142853530	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:210273697G>A	ENST00000472886.1	+	6	1069	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	SYT14_ENST00000399639.2_Missense_Mutation_p.R352H|SYT14_ENST00000367019.1_Missense_Mutation_p.R352H|SYT14_ENST00000537238.1_Missense_Mutation_p.R314H|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000422431.1_Missense_Mutation_p.R397H|SYT14_ENST00000534859.1_Missense_Mutation_p.R352H|SYT14_ENST00000367015.1_Missense_Mutation_p.R314H			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	352	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.R352H(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GGTGTACATCGCATGAAAAAA	0.343													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19563	0.0		0.0	False		,,,				2504	0.0				p.R352H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	1						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	19,4387	23.3+/-48.9	0,19,2184	48.0	49.0	49.0		1190,1055,1190,1055	6.1	1.0	1	dbSNP_134	49	0,8600		0,0,4300	yes	missense,missense,missense,missense	SYT14	NM_001146261.1,NM_001146262.1,NM_001146264.1,NM_153262.2	29,29,29,29	0,19,6484	AA,AG,GG		0.0,0.4312,0.1461	probably-damaging,probably-damaging,probably-damaging,probably-damaging	397/620,352/575,397/601,352/556	210273697	19,12987	2203	4300	6503	208340320	SO:0001583	missense	255928	exon6			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1055G>A	1.37:g.210273697G>A	ENSP00000418901:p.Arg352His		208340320	NM_153262	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944206	0.92593	0.004312	0.0	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0;3.0	6.07	6.07	0.98685	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.999;1.0	D;P;D;D	0.80764	0.993;0.845;0.994;0.983	T	0.26467	-1.0102	10	0.87932	D	0	-5.205	20.6452	0.99591	0.0:0.0:1.0:0.0	.	380;352;352;397	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	H	397;352;352;314;352;352;314	ENSP00000389039:R397H;ENSP00000442891:R352H;ENSP00000445837:R352H;ENSP00000437423:R314H;ENSP00000355986:R352H;ENSP00000418901:R352H;ENSP00000355982:R314H	ENSP00000355982:R314H	R	+	2	0	SYT14	208340320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.118000	0.77137	2.885000	0.99019	0.650000	0.86243	CGC		0.343	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	
KCNH1	3756	broad.mit.edu	37	1	210948721	210948721	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:210948721T>C	ENST00000271751.4	-	10	2108	c.2081A>G	c.(2080-2082)aAc>aGc	p.N694S	KCNH1_ENST00000367007.4_Missense_Mutation_p.N667S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	694	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.N694S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGAATCAGGTTCCGGGAGAA	0.473																																					p.N667S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2000G	1						.						88.0	82.0	84.0					1																	210948721		2203	4300	6503	209015344	SO:0001583	missense	3756	exon10			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2081A>G	1.37:g.210948721T>C	ENSP00000271751:p.Asn694Ser		209015344	NM_002238	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350428	0.61183	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96651	-4.08;-4.08	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.085531	0.85682	D	0.000000	D	0.96858	0.8974	M	0.73598	2.24	0.80722	D	1	D;P	0.55385	0.971;0.586	P;B	0.51866	0.682;0.393	D	0.97235	0.9887	10	0.72032	D	0.01	.	15.363	0.74496	0.0:0.0:0.0:1.0	.	667;694	Q14CL3;O95259	.;KCNH1_HUMAN	S	694;667	ENSP00000271751:N694S;ENSP00000355974:N667S	ENSP00000271751:N694S	N	-	2	0	KCNH1	209015344	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.751000	0.85126	2.028000	0.59812	0.454000	0.30748	AAC		0.473	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
RCOR3	55758	broad.mit.edu	37	1	211486160	211486160	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:211486160C>T	ENST00000367005.4	+	10	1141	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	RCOR3_ENST00000419091.2_Missense_Mutation_p.R392W|RCOR3_ENST00000452621.2_Missense_Mutation_p.R392W|RCOR3_ENST00000367006.4_Intron|RCOR3_ENST00000526255.1_3'UTR	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	334	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R334W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CTACAGGCGTCGGTTTAACTT	0.438																																					p.R392W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1174T	1						.						112.0	113.0	113.0					1																	211486160		2203	4300	6503	209552783	SO:0001583	missense	55758	exon11			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.1000C>T	1.37:g.211486160C>T	ENSP00000355972:p.Arg334Trp		209552783	NM_001136223	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800780	0.70567	.	.	ENSG00000117625	ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.22	5.22	0.72569	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.76247	-0.3029	10	0.87932	D	0	-10.6484	19.1219	0.93365	0.0:1.0:0.0:0.0	.	392;334;392	Q9P2K3-3;Q9P2K3;Q9P2K3-4	.;RCOR3_HUMAN;.	W	392;392;334;152	ENSP00000398558:R392W;ENSP00000413929:R392W;ENSP00000355972:R334W;ENSP00000437048:R152W	ENSP00000355972:R334W	R	+	1	2	RCOR3	209552783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	2.590000	0.87494	0.650000	0.86243	CGG		0.438	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	
EIF4G3	8672	broad.mit.edu	37	1	21186965	21186965	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:21186965C>T	ENST00000264211.8	-	18	3183	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K	EIF4G3_ENST00000536266.1_Missense_Mutation_p.E601K|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E487K|EIF4G3_ENST00000602326.1_Missense_Mutation_p.E1003K|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1003K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E997K|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E717K	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	997	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.E997K(1)|p.E1003K(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)		TGAATCTGTTCGATAGTTTTA	0.393																																					p.E997K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2989A	1						.						202.0	179.0	187.0					1																	21186965		2203	4300	6503	21059552	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.2989G>A	1.37:g.21186965C>T	ENSP00000264211:p.Glu997Lys		21059552	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	36	5.634418	0.96682	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.07021	3.77;3.77;3.6;3.23;3.77;3.46	5.51	5.51	0.81932	.	0.050117	0.85682	D	0.000000	T	0.24392	0.0591	L	0.42245	1.32	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.995;0.997;0.991;0.741	D;P;P;B;B	0.80764	0.994;0.707;0.859;0.373;0.204	T	0.00239	-1.1888	10	0.72032	D	0.01	-17.8417	19.4217	0.94725	0.0:1.0:0.0:0.0	.	1192;717;601;1003;997	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	K	997;1193;997;717;487;1003;601	ENSP00000264211:E997K;ENSP00000383274:E997K;ENSP00000364071:E717K;ENSP00000442010:E487K;ENSP00000364073:E1003K;ENSP00000444693:E601K	ENSP00000264211:E997K	E	-	1	0	EIF4G3	21059552	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.787000	0.85759	2.609000	0.88269	0.650000	0.86243	GAA		0.393	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
INTS7	25896	broad.mit.edu	37	1	212148704	212148704	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:212148704T>C	ENST00000366994.3	-	13	1723	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	INTS7_ENST00000366992.3_Missense_Mutation_p.D540G|INTS7_ENST00000366993.3_Missense_Mutation_p.D540G|INTS7_ENST00000440600.2_Missense_Mutation_p.D491G|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	540					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.D540G(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTTGGCCATGTCATGATTACC	0.383																																					p.D491G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1472G	1						.						82.0	90.0	87.0					1																	212148704		2203	4300	6503	210215327	SO:0001583	missense	25896	exon12			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1619A>G	1.37:g.212148704T>C	ENSP00000355961:p.Asp540Gly		210215327	NM_001199809	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089872	0.36855	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.66099	1.81;1.81;1.81;-0.19	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.042419	0.85682	D	0.000000	T	0.51601	0.1684	L	0.44542	1.39	0.58432	D	0.999999	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.46735	-0.9170	10	0.16896	T	0.51	-32.6371	11.6151	0.51086	0.0:0.0686:0.0:0.9314	.	491;540;540;540	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	G	540;540;540;491	ENSP00000355961:D540G;ENSP00000355960:D540G;ENSP00000355959:D540G;ENSP00000388908:D491G	ENSP00000355959:D540G	D	-	2	0	INTS7	210215327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.016000	0.70798	2.324000	0.78689	0.533000	0.62120	GAC		0.383	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
PPP2R5A	5525	broad.mit.edu	37	1	212530532	212530532	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:212530532G>A	ENST00000261461.2	+	11	1706	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.E321K|RP11-384C4.2_ENST00000447949.1_RNA	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	378					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.E378K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		CTGGAATAACGAATATATTCT	0.313																																					p.E321K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G961A	1						.						92.0	93.0	92.0					1																	212530532		2202	4298	6500	210597155	SO:0001583	missense	5525	exon11			BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.1132G>A	1.37:g.212530532G>A	ENSP00000261461:p.Glu378Lys		210597155	NM_001199756	B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554678	0.96501	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.87	5.87	0.94306	Armadillo-type fold (1);	0.041721	0.85682	D	0.000000	D	0.87180	0.6113	M	0.93375	3.41	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.973	D	0.89171	0.3537	9	0.87932	D	0	-21.0291	20.5827	0.99408	0.0:0.0:1.0:0.0	.	321;378	B7Z7L2;Q15172	.;2A5A_HUMAN	K	378;378;321	.	ENSP00000261461:E378K	E	+	1	0	PPP2R5A	210597155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.611000	0.98342	2.941000	0.99782	0.655000	0.94253	GAA		0.313	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243	
PTPN14	5784	broad.mit.edu	37	1	214543024	214543024	+	Missense_Mutation	SNP	C	C	T	rs201803310		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:214543024C>T	ENST00000366956.5	-	17	3241	c.3047G>A	c.(3046-3048)cGa>cAa	p.R1016Q	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1016	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.R1016Q(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCTTTTGGTTCGTCCACCCTC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20326	0.001		0.0	False		,,,				2504	0.0				p.R1016Q	Colon(92;557 1424 24372 34121 40073)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3047A	1						.						170.0	160.0	164.0					1																	214543024		2203	4300	6503	212609647	SO:0001583	missense	5784	exon17			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3047G>A	1.37:g.214543024C>T	ENSP00000355923:p.Arg1016Gln		212609647	NM_005401	Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.2	4.896836	0.91962	.	.	ENSG00000152104	ENST00000366956	D	0.84146	-1.81	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	D	0.89949	0.4078	10	0.72032	D	0.01	.	19.4235	0.94732	0.0:1.0:0.0:0.0	.	1016	Q15678	PTN14_HUMAN	Q	1016	ENSP00000355923:R1016Q	ENSP00000355923:R1016Q	R	-	2	0	PTPN14	212609647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.003000	0.70701	2.564000	0.86499	0.650000	0.86243	CGA		0.428	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
USH2A	7399	broad.mit.edu	37	1	215824091	215824091	+	Missense_Mutation	SNP	C	C	A	rs12085362	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:215824091C>A	ENST00000307340.3	-	65	14572	c.14186G>T	c.(14185-14187)aGa>aTa	p.R4729I	USH2A_ENST00000366943.2_Missense_Mutation_p.R4729I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4729	Fibronectin type-III 32. {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.R4729I(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)		TGGCCCGGTTCTGCACCATGT	0.547										HNSCC(13;0.011)																											p.R4729I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14186T	1						.						100.0	101.0	101.0					1																	215824091		2203	4300	6503	213890714	SO:0001583	missense	7399	exon65			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.14186G>T	1.37:g.215824091C>A	ENSP00000305941:p.Arg4729Ile		213890714	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731157	0.48939	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.73	3.54	0.40534	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.155076	0.28499	U	0.015127	T	0.65739	0.2720	M	0.81942	2.565	0.48762	D	0.999704	D	0.57899	0.981	P	0.57371	0.819	T	0.65981	-0.6036	10	0.27785	T	0.31	.	11.939	0.52890	0.0:0.7901:0.0:0.2099	.	4729	O75445	USH2A_HUMAN	I	4729	ENSP00000305941:R4729I;ENSP00000355910:R4729I	ENSP00000305941:R4729I	R	-	2	0	USH2A	213890714	0.348000	0.24861	0.984000	0.44739	0.074000	0.17049	1.041000	0.30291	1.419000	0.47118	0.650000	0.86243	AGA		0.547	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	215853544	215853544	+	Missense_Mutation	SNP	G	G	A	rs144783615		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:215853544G>A	ENST00000307340.3	-	62	12627	c.12241C>T	c.(12241-12243)Cgg>Tgg	p.R4081W	USH2A_ENST00000366943.2_Missense_Mutation_p.R4081W	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4081	Fibronectin type-III 26. {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.R4081W(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)		AGCAATGCCCGGCCATTCTCT	0.413										HNSCC(13;0.011)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19191	0.0		0.0	False		,,,				2504	0.001				p.R4081W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12241T	1						.	G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	166.0	154.0	158.0		12241	3.2	0.9	1	dbSNP_134	158	0,8600		0,0,4300	yes	missense	USH2A	NM_206933.2	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	4081/5203	215853544	3,13003	2203	4300	6503	213920167	SO:0001583	missense	7399	exon62			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.12241C>T	1.37:g.215853544G>A	ENSP00000305941:p.Arg4081Trp		213920167	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789719	0.70337	6.81E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55234	0.53;0.53	5.26	3.24	0.37175	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.202899	0.22491	N	0.059371	T	0.64349	0.2590	M	0.80982	2.52	0.43756	D	0.996262	D	0.76494	0.999	P	0.53185	0.72	T	0.69921	-0.5014	10	0.59425	D	0.04	.	12.0299	0.53392	0.0:0.0:0.453:0.547	.	4081	O75445	USH2A_HUMAN	W	4081	ENSP00000305941:R4081W;ENSP00000355910:R4081W	ENSP00000305941:R4081W	R	-	1	2	USH2A	213920167	0.998000	0.40836	0.915000	0.36163	0.960000	0.62799	2.674000	0.46867	1.200000	0.43188	0.655000	0.94253	CGG		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216420302	216420302	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:216420302T>C	ENST00000307340.3	-	13	2820	c.2434A>G	c.(2434-2436)Aca>Gca	p.T812A	USH2A_ENST00000366942.3_Missense_Mutation_p.T812A|USH2A_ENST00000366943.2_Missense_Mutation_p.T812A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	812	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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.T812A(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)		CACTGCCCTGTCTTAGCATTA	0.463										HNSCC(13;0.011)																											p.T812A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2434G	1						.						118.0	111.0	113.0					1																	216420302		2203	4300	6503	214486925	SO:0001583	missense	7399	exon13			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.2434A>G	1.37:g.216420302T>C	ENSP00000305941:p.Thr812Ala		214486925	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.060020	0.55325	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.64618	-0.11;-0.11;-0.11	5.65	5.65	0.86999	EGF-like, laminin (2);	0.000000	0.46442	D	0.000296	T	0.78368	0.4272	M	0.72576	2.205	0.49213	D	0.999766	P;D	0.89917	0.839;1.0	P;D	0.87578	0.58;0.998	T	0.79825	-0.1640	10	0.54805	T	0.06	.	15.8775	0.79178	0.0:0.0:0.0:1.0	.	812;812	O75445-2;O75445	.;USH2A_HUMAN	A	812	ENSP00000305941:T812A;ENSP00000355910:T812A;ENSP00000355909:T812A	ENSP00000305941:T812A	T	-	1	0	USH2A	214486925	1.000000	0.71417	0.906000	0.35671	0.651000	0.38670	5.770000	0.68873	2.135000	0.66039	0.533000	0.62120	ACA		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
GPATCH2	55105	broad.mit.edu	37	1	217793291	217793291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:217793291C>A	ENST00000366935.3	-	2	717	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.E203*	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	203					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.E203*(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTGGTAAATTCTTGATACTGG	0.403																																					p.E203X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G607T	1						.						196.0	184.0	188.0					1																	217793291		2203	4300	6503	215859914	SO:0001587	stop_gained	55105	exon2			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.607G>T	1.37:g.217793291C>A	ENSP00000355902:p.Glu203*		215859914	NM_018040	Q5VYK7|Q5VYK8|Q86YE7	Nonsense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	37	6.205989	0.97376	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	.	.	.	5.68	5.68	0.88126	.	0.131007	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-22.3686	19.7782	0.96405	0.0:1.0:0.0:0.0	.	.	.	.	X	203	.	ENSP00000355901:E203X	E	-	1	0	GPATCH2	215859914	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	2.691000	0.47010	2.668000	0.90789	0.591000	0.81541	GAA		0.403	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040	
TGFB2	7042	broad.mit.edu	37	1	218520154	218520154	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:218520154C>T	ENST00000366930.4	+	1	578	c.111C>T	c.(109-111)atC>atT	p.I37I	TGFB2_ENST00000366929.4_Silent_p.I37I|RP11-224O19.2_ENST00000414452.1_RNA	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	37					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.I37I(2)		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)		GCAAGAGGATCGAGGCGATCC	0.587																																					p.I37I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C111T	1						.						88.0	89.0	89.0					1																	218520154		2203	4300	6503	216586777	SO:0001819	synonymous_variant	7042	exon1			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.111C>T	1.37:g.218520154C>T			216586777	NM_003238	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	CCDS1521.1																																																																																				0.587	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
EPRS	2058	broad.mit.edu	37	1	220152858	220152858	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:220152858T>G	ENST00000366923.3	-	27	4080	c.3811A>C	c.(3811-3813)Aac>Cac	p.N1271H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1271	Proline--tRNA ligase.				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.N1271H(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)	CCCCAGGAGTTTTGATAGGCA	0.428																																					p.N1271H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3811C	1						.						131.0	127.0	128.0					1																	220152858		2203	4300	6503	218219481	SO:0001583	missense	2058	exon27			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.3811A>C	1.37:g.220152858T>G	ENSP00000355890:p.Asn1271His		218219481	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482168	0.84747	.	.	ENSG00000136628	ENST00000366923	T	0.30714	1.52	5.93	4.8	0.61643	Aminoacyl-tRNA synthetase, class II (1);	0.083658	0.85682	D	0.000000	T	0.68540	0.3012	H	0.98786	4.33	0.45172	D	0.998185	D	0.69078	0.997	D	0.64506	0.926	T	0.78565	-0.2155	10	0.87932	D	0	-7.27	10.7231	0.46052	0.1858:0.0:0.0:0.8142	.	1271	P07814	SYEP_HUMAN	H	1271	ENSP00000355890:N1271H	ENSP00000355890:N1271H	N	-	1	0	EPRS	218219481	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.114000	0.71560	1.051000	0.40369	0.460000	0.39030	AAC		0.428	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
EPRS	2058	broad.mit.edu	37	1	220197706	220197706	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:220197706C>A	ENST00000366923.3	-	8	1112	c.843G>T	c.(841-843)gaG>gaT	p.E281D		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	281	Glutamate--tRNA ligase.				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.E281D(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)	GAATTAGCTTCTCTGCATACT	0.368																																					p.E281D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G843T	1						.						130.0	112.0	118.0					1																	220197706		2203	4300	6503	218264329	SO:0001583	missense	2058	exon8			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.843G>T	1.37:g.220197706C>A	ENSP00000355890:p.Glu281Asp		218264329	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983332	0.74474	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23754	1.89	5.52	5.52	0.82312	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.85299	2.745	0.80722	D	1	B;B;B;B	0.19073	0.007;0.002;0.0;0.033	B;B;B;B	0.26202	0.016;0.028;0.024;0.067	T	0.30966	-0.9960	10	0.36615	T	0.2	-36.3403	19.854	0.96750	0.0:1.0:0.0:0.0	.	305;281;281;281	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	D	281;281;305	ENSP00000355890:E281D	ENSP00000355890:E281D	E	-	3	2	EPRS	218264329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.785000	0.55424	2.774000	0.95407	0.580000	0.79431	GAG		0.368	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
BPNT1	10380	broad.mit.edu	37	1	220232323	220232323	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:220232323C>T	ENST00000469520.2	-	10	1239	c.790G>A	c.(790-792)Gat>Aat	p.D264N	BPNT1_ENST00000414869.2_Missense_Mutation_p.D228N|BPNT1_ENST00000544404.1_Missense_Mutation_p.D209N|BPNT1_ENST00000354807.3_Missense_Mutation_p.D279N|BPNT1_ENST00000322067.7_Missense_Mutation_p.D264N			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	264					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)	p.D264N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CCATGGATATCGGTTAACTTG	0.393																																					p.D264N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G790A	1						.						136.0	125.0	129.0					1																	220232323		1907	4140	6047	218298946	SO:0001583	missense	10380	exon9			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.790G>A	1.37:g.220232323C>T	ENSP00000446828:p.Asp264Asn		218298946	NM_006085	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025689	0.93518	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.28	5.28	0.74379	.	0.094465	0.64402	D	0.000001	T	0.79009	0.4374	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.918;1.0;0.982	T	0.79992	-0.1569	10	0.49607	T	0.09	.	19.28	0.94050	0.0:1.0:0.0:0.0	.	228;279;264	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	N	264;264;279;264;209;228	ENSP00000318852:D264N;ENSP00000446828:D264N;ENSP00000346862:D279N;ENSP00000444398:D209N;ENSP00000410348:D228N	ENSP00000307087:D264N	D	-	1	0	BPNT1	218298946	1.000000	0.71417	0.937000	0.37676	0.924000	0.55760	7.682000	0.84083	2.643000	0.89663	0.555000	0.69702	GAT		0.393	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085	
HSPG2	3339	broad.mit.edu	37	1	22168062	22168062	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:22168062C>T	ENST00000374695.3	-	70	9377	c.9298G>A	c.(9298-9300)Gcc>Acc	p.A3100T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3100	Ig-like C2-type 16.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A3100T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACACTCTGGGCCACACCGTAG	0.622																																					p.A3100T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9298A	1						.						142.0	109.0	120.0					1																	22168062		2203	4300	6503	22040649	SO:0001583	missense	3339	exon70			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9298G>A	1.37:g.22168062C>T	ENSP00000363827:p.Ala3100Thr		22040649	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442846	0.63067	.	.	ENSG00000142798	ENST00000374695	T	0.68903	-0.36	4.92	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001303	T	0.72220	0.3433	L	0.31476	0.935	0.37720	D	0.924871	P;D	0.76494	0.597;0.999	P;D	0.91635	0.627;0.999	T	0.71104	-0.4689	10	0.23302	T	0.38	.	17.0444	0.86498	0.0:1.0:0.0:0.0	.	1040;3100	Q59EG0;P98160	.;PGBM_HUMAN	T	3100	ENSP00000363827:A3100T	ENSP00000363827:A3100T	A	-	1	0	HSPG2	22040649	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.408000	0.52651	2.434000	0.82447	0.561000	0.74099	GCC		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
MARK1	4139	broad.mit.edu	37	1	220809264	220809264	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:220809264G>T	ENST00000366917.4	+	13	1632	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	MARK1_ENST00000402574.1_Missense_Mutation_p.D321Y|MARK1_ENST00000366918.4_Missense_Mutation_p.D434Y					MAP/microtubule affinity-regulating kinase 1									p.D456Y(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GTGGGACAAAGATGTGGCTCG	0.443																																					p.D456Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1366T	1						.						103.0	100.0	101.0					1																	220809264		2203	4300	6503	218875887	SO:0001583	missense	4139	exon13			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1366G>T	1.37:g.220809264G>T	ENSP00000355884:p.Asp456Tyr		218875887	NM_018650		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865391	0.71949	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.28666	1.6;1.6;1.6	6.03	6.03	0.97812	.	0.059969	0.64402	D	0.000002	T	0.35856	0.0946	L	0.56769	1.78	0.44079	D	0.996837	P;P;B;B	0.50617	0.592;0.937;0.041;0.157	B;P;B;B	0.45343	0.195;0.477;0.058;0.124	T	0.05500	-1.0881	10	0.44086	T	0.13	.	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	456;321;456;434	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	Y	321;434;456	ENSP00000386017:D321Y;ENSP00000355885:D434Y;ENSP00000355884:D456Y	ENSP00000355884:D456Y	D	+	1	0	MARK1	218875887	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	5.133000	0.64764	2.861000	0.98227	0.655000	0.94253	GAT		0.443	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
HHIPL2	79802	broad.mit.edu	37	1	222716889	222716889	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:222716889T>G	ENST00000343410.6	-	2	1022	c.964A>C	c.(964-966)Aaa>Caa	p.K322Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	322					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.K322Q(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)		CTCTCTGATTTCAGGTCAGCT	0.443																																					p.K322Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A964C	1						.						322.0	348.0	340.0					1																	222716889		2203	4300	6503	220783512	SO:0001583	missense	79802	exon2			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.964A>C	1.37:g.222716889T>G	ENSP00000342118:p.Lys322Gln		220783512	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	T	8.892	0.954188	0.18431	.	.	ENSG00000143512	ENST00000343410	T	0.13778	2.56	5.57	5.57	0.84162	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.291823	0.37809	N	0.001923	T	0.11580	0.0282	N	0.21194	0.64	0.09310	N	1	P	0.38335	0.627	P	0.44422	0.449	T	0.25398	-1.0133	10	0.25751	T	0.34	-9.9596	7.6316	0.28243	0.1381:0.0:0.1437:0.7182	.	322	Q6UWX4	HIPL2_HUMAN	Q	322	ENSP00000342118:K322Q	ENSP00000342118:K322Q	K	-	1	0	HHIPL2	220783512	0.000000	0.05858	0.685000	0.30070	0.885000	0.51271	-0.340000	0.07821	2.100000	0.63781	0.482000	0.46254	AAA		0.443	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
MIA3	375056	broad.mit.edu	37	1	222802186	222802186	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:222802186G>A	ENST00000344922.5	+	4	1649	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.E542K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	542					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.E542K(1)		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)		AATGCTCCACGAAGAAAAGCC	0.408																																					p.E542K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1624A	1						.						89.0	87.0	87.0					1																	222802186		1858	4105	5963	220868809	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.1624G>A	1.37:g.222802186G>A	ENSP00000340900:p.Glu542Lys		220868809	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|G	13.00|13.00	2.106459|2.106459	0.37145|0.37145	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05855|.	3.38;3.38|.	4.72|4.72	1.7|1.7	0.24286|0.24286	.|.	.|.	.|.	.|.	.|.	T|T	0.38665|0.38665	0.1049|0.1049	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	P;P|.	0.48230|.	0.841;0.907|.	B;B|.	0.36092|.	0.217;0.051|.	T|T	0.25467|0.25467	-1.0131|-1.0131	9|5	0.72032|.	D|.	0.01|.	.|.	7.6487|7.6487	0.28336|0.28336	0.1541:0.1363:0.7097:0.0|0.1541:0.1363:0.7097:0.0	.|.	542;542|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|Q	542|124	ENSP00000340900:E542K;ENSP00000340587:E542K|.	ENSP00000325973:E542K|.	E|R	+|+	1|2	0|0	MIA3|MIA3	220868809|220868809	0.007000|0.007000	0.16637|0.16637	0.029000|0.029000	0.17559|0.17559	0.095000|0.095000	0.18619|0.18619	0.089000|0.089000	0.15002|0.15002	0.493000|0.493000	0.27837|0.27837	0.305000|0.305000	0.20034|0.20034	GAA|CGA		0.408	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
MIA3	375056	broad.mit.edu	37	1	222805554	222805554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:222805554G>T	ENST00000344922.5	+	5	3242	c.3217G>T	c.(3217-3219)Gaa>Taa	p.E1073*	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Nonsense_Mutation_p.E1073*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1073					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.E1073*(1)		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)		GAAGACAGCAGAACTTAATGT	0.468																																					p.E1073X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3217T	1						.						128.0	123.0	125.0					1																	222805554		1971	4145	6116	220872177	SO:0001587	stop_gained	375056	exon5				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.3217G>T	1.37:g.222805554G>T	ENSP00000340900:p.Glu1073*		220872177	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Nonsense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.012567|7.012567	0.98002|0.98002	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	.|.	.|.	.|.	3.81|3.81	2.9|2.9	0.33743|0.33743	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43344	.|0.1243	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52472	.|-0.8571	.|3	0.52906|.	T|.	0.07|.	.|.	7.6881|7.6881	0.28552|0.28552	0.1155:0.0:0.8845:0.0|0.1155:0.0:0.8845:0.0	.|.	.|.	.|.	.|.	X|I	1073|655	.|.	ENSP00000325973:E1073X|.	E|R	+|+	1|2	0|0	MIA3|MIA3	220872177|220872177	0.000000|0.000000	0.05858|0.05858	0.024000|0.024000	0.17045|0.17045	0.017000|0.017000	0.09413|0.09413	0.522000|0.522000	0.22909|0.22909	1.178000|1.178000	0.42870|0.42870	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.468	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
MIA3	375056	broad.mit.edu	37	1	222838683	222838683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:222838683G>T	ENST00000344922.5	+	28	5471	c.5446G>T	c.(5446-5448)Gaa>Taa	p.E1816*	AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Nonsense_Mutation_p.E694*|MIA3_ENST00000344441.6_Nonsense_Mutation_p.E1816*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1816	Pro-rich.				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.E1816*(1)		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)		AGGCTTAAGAGAATTTGCACC	0.463																																					p.E1816X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5446T	1						.						158.0	155.0	156.0					1																	222838683		1852	4103	5955	220905306	SO:0001587	stop_gained	375056	exon28				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.5446G>T	1.37:g.222838683G>T	ENSP00000340900:p.Glu1816*		220905306	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Nonsense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	45	11.881649	0.99613	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.5168	0.95168	0.0:0.0:1.0:0.0	.	.	.	.	X	1816;1816;1757;694;694	.	ENSP00000284471:E694X	E	+	1	0	MIA3	220905306	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.102000	0.71486	2.717000	0.92951	0.491000	0.48974	GAA		0.463	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
DISP1	84976	broad.mit.edu	37	1	223176566	223176566	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:223176566C>T	ENST00000284476.6	+	8	1991	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	609	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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.F609F(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)		TCTCCATGTTCGTCACCAGTT	0.458																																					p.F609F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1827T	1						.						146.0	134.0	138.0					1																	223176566		2203	4300	6503	221243189	SO:0001819	synonymous_variant	84976	exon8			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.1827C>T	1.37:g.223176566C>T			221243189	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
CAPN2	824	broad.mit.edu	37	1	223934751	223934751	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:223934751G>A	ENST00000295006.5	+	5	922	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	CAPN2_ENST00000433674.2_Missense_Mutation_p.E127K	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	205	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.E205K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGAGGGCTTCGAAGACTTCAC	0.532																																					p.E205K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613A	1						.						129.0	123.0	125.0					1																	223934751		2203	4300	6503	222001374	SO:0001583	missense	824	exon5			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.613G>A	1.37:g.223934751G>A	ENSP00000295006:p.Glu205Lys		222001374	NM_001748	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	37	6.080820	0.97267	.	.	ENSG00000162909	ENST00000433674;ENST00000434648;ENST00000295006;ENST00000366869	D;D;D	0.89681	-2.55;-2.55;-2.55	5.56	5.56	0.83823	Peptidase C2, calpain, catalytic domain (3);	0.046644	0.85682	D	0.000000	D	0.95098	0.8412	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95250	0.8359	10	0.72032	D	0.01	.	19.5353	0.95251	0.0:0.0:1.0:0.0	.	127;205	B7ZA96;P17655	.;CAN2_HUMAN	K	127;127;205;234	ENSP00000413158:E127K;ENSP00000399949:E127K;ENSP00000295006:E205K	ENSP00000295006:E205K	E	+	1	0	CAPN2	222001374	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.807000	0.99171	2.608000	0.88229	0.563000	0.77884	GAA		0.532	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
CAPN2	824	broad.mit.edu	37	1	223943197	223943197	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:223943197A>G	ENST00000295006.5	+	10	1460	c.1151A>G	c.(1150-1152)aAc>aGc	p.N384S	CAPN2_ENST00000433674.2_Missense_Mutation_p.N306S	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	384	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.N384S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTCTGGATGAACCCTCAGTAC	0.627																																					p.N384S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1151G	1						.						131.0	111.0	118.0					1																	223943197		2203	4300	6503	222009820	SO:0001583	missense	824	exon10			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1151A>G	1.37:g.223943197A>G	ENSP00000295006:p.Asn384Ser		222009820	NM_001748	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702048	0.88924	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.99201	-5.55;-5.55	5.35	5.35	0.76521	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.968	D	0.98272	1.0504	10	0.87932	D	0	.	15.3586	0.74448	1.0:0.0:0.0:0.0	.	306;384	B7ZA96;P17655	.;CAN2_HUMAN	S	306;384;413	ENSP00000413158:N306S;ENSP00000295006:N384S	ENSP00000295006:N384S	N	+	2	0	CAPN2	222009820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.029000	0.59856	0.460000	0.39030	AAC		0.627	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
TP53BP2	7159	broad.mit.edu	37	1	223983937	223983937	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:223983937C>T	ENST00000343537.7	-	13	2595	c.2304G>A	c.(2302-2304)atG>atA	p.M768I	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.M639I|TP53BP2_ENST00000391879.2_Start_Codon_SNP_p.M1I	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	762					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.M639I(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGATGGTCTCCATGGCCGCTA	0.468																																					p.M768I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2304A	1						.						149.0	156.0	154.0					1																	223983937		2203	4300	6503	222050560	SO:0001583	missense	7159	exon13			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2304G>A	1.37:g.223983937C>T	ENSP00000341957:p.Met768Ile		222050560	NM_001031685	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923836	0.73213	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.54866	0.67;0.85;0.55	5.68	5.68	0.88126	.	0.068016	0.85682	D	0.000000	T	0.57125	0.2032	M	0.63843	1.955	0.80722	D	1	P;P	0.45428	0.61;0.858	B;P	0.45794	0.138;0.493	T	0.60796	-0.7192	10	0.59425	D	0.04	.	14.9426	0.71006	0.0:0.9299:0.0:0.0701	.	768;762	B4DG66;Q13625	.;ASPP2_HUMAN	I	639;768;1	ENSP00000375750:M639I;ENSP00000341957:M768I;ENSP00000375751:M1I	ENSP00000341957:M768I	M	-	3	0	TP53BP2	222050560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.785000	0.68998	2.702000	0.92279	0.655000	0.94253	ATG		0.468	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	
WDR26	80232	broad.mit.edu	37	1	224619251	224619251	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:224619251T>C	ENST00000414423.2	-	3	748	c.555A>G	c.(553-555)ttA>ttG	p.L185L	WDR26_ENST00000366852.2_Silent_p.L185L|WDR26_ENST00000295024.6_Silent_p.L38L	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	185	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L185L(1)|p.L38L(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GAGAATGCACTAAAGGCTTTA	0.343																																					p.L185L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A555G	1						.						75.0	72.0	73.0					1																	224619251		2203	4300	6503	222685874	SO:0001819	synonymous_variant	80232	exon3			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.555A>G	1.37:g.224619251T>C			222685874	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	ENST00000414423.2	37	CCDS31037.2																																																																																				0.343	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
TMEM63A	9725	broad.mit.edu	37	1	226059726	226059726	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:226059726C>T	ENST00000366835.3	-	5	564	c.294G>A	c.(292-294)tcG>tcA	p.S98S		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	98					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.S98S(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGGAGGAAGTCGATGACAATC	0.413																																					p.S98S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G294A	1						.						108.0	90.0	96.0					1																	226059726		2203	4300	6503	224126349	SO:0001819	synonymous_variant	9725	exon5				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.294G>A	1.37:g.226059726C>T			224126349	NM_014698	Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	CCDS31042.1																																																																																				0.413	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698	
ZNF678	339500	broad.mit.edu	37	1	227842889	227842889	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:227842889G>T	ENST00000343776.5	+	4	1283	c.938G>T	c.(937-939)aGa>aTa	p.R313I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R368I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	313					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.R313I(2)		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)				CGTCATAAAAGAATTCATACT	0.388																																					p.R368I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1103T	1						.						45.0	50.0	49.0					1																	227842889		2203	4298	6501	225909512	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.938G>T	1.37:g.227842889G>T	ENSP00000344828:p.Arg313Ile		225909512	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	G	10.03	1.239663	0.22711	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.02446	4.29;4.29	1.62	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	L	0.61036	1.89	0.37593	D	0.920247	P	0.41910	0.764	P	0.51918	0.684	T	0.49351	-0.8949	9	0.33141	T	0.24	.	3.7708	0.08640	0.2008:0.2548:0.5444:0.0	.	313	Q5SXM1	ZN678_HUMAN	I	313;368	ENSP00000344828:R313I;ENSP00000440403:R368I	ENSP00000344828:R313I	R	+	2	0	ZNF678	225909512	0.001000	0.12720	0.022000	0.16811	0.173000	0.22820	1.022000	0.30052	-0.037000	0.13646	0.603000	0.83216	AGA		0.388	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
OBSCN	84033	broad.mit.edu	37	1	228469640	228469640	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:228469640A>G	ENST00000422127.1	+	31	8248	c.8204A>G	c.(8203-8205)cAc>cGc	p.H2735R	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.H3164R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.H2735R|OBSCN_ENST00000359599.6_Missense_Mutation_p.H1582R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2735					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.H2789R(1)|p.H3018R(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)				GCAGATCTGCACGTGGGCATC	0.632																																					p.H2735R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A8204G	1						.						45.0	50.0	49.0					1																	228469640		2077	4216	6293	226536263	SO:0001583	missense	84033	exon31			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.8204A>G	1.37:g.228469640A>G	ENSP00000409493:p.His2735Arg		226536263	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	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459102	0.43634	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.61158	0.53;0.13;0.16	4.3	1.87	0.25490	.	0.343450	0.27402	N	0.019533	T	0.42630	0.1211	L	0.55481	1.735	0.80722	D	1	B;B;B	0.25441	0.126;0.023;0.043	B;B;B	0.20767	0.031;0.007;0.013	T	0.13656	-1.0501	10	0.10377	T	0.69	.	5.7022	0.17889	0.7546:0.0:0.0838:0.1616	.	2735;2735;2735	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	R	2735;2735;1582;434;141	ENSP00000284548:H2735R;ENSP00000409493:H2735R;ENSP00000352613:H1582R	ENSP00000284548:H2735R	H	+	2	0	OBSCN	226536263	0.996000	0.38824	0.767000	0.31495	0.934000	0.57294	3.582000	0.53921	0.131000	0.18576	0.374000	0.22700	CAC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228481089	228481089	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:228481089G>A	ENST00000422127.1	+	41	10947	c.10903G>A	c.(10903-10905)Gaa>Aaa	p.E3635K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E754K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E4064K|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Missense_Mutation_p.E754K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3635K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2482K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3635	Ig-like 37.				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.E3918K(1)|p.E3689K(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)				TCTGAGGAACGAAGAGGCCAC	0.542																																					p.E3635K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10903A	1						.						48.0	51.0	50.0					1																	228481089		2039	4177	6216	226547712	SO:0001583	missense	84033	exon41			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.10903G>A	1.37:g.228481089G>A	ENSP00000409493:p.Glu3635Lys		226547712	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	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453383	0.26161	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.38	-0.702	0.11265	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.934646	0.09112	N	0.846995	T	0.45498	0.1345	L	0.33753	1.03	0.09310	N	1	P;B	0.44090	0.826;0.342	B;B	0.39660	0.306;0.186	T	0.30621	-0.9972	10	0.28530	T	0.3	.	6.4159	0.21715	0.431:0.1293:0.4397:0.0	.	3635;3635	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	3635;3635;754;754;2482	ENSP00000284548:E3635K;ENSP00000409493:E3635K;ENSP00000355668:E754K;ENSP00000355670:E754K;ENSP00000352613:E2482K	ENSP00000284548:E3635K	E	+	1	0	OBSCN	226547712	0.000000	0.05858	0.004000	0.12327	0.023000	0.10783	-0.515000	0.06290	-0.112000	0.11979	-1.210000	0.01631	GAA		0.542	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
CCSAP	126731	broad.mit.edu	37	1	229462629	229462629	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:229462629C>T	ENST00000366687.1	-	2	543	c.492G>A	c.(490-492)agG>agA	p.R164R	CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366686.1_Silent_p.R50R|CCSAP_ENST00000284617.2_Silent_p.R164R			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	164					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)		p.R164R(1)									TGACCGCTTTCCTGTTTCCTC	0.428																																					p.R164R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A	1						.						341.0	330.0	334.0					1																	229462629		2203	4300	6503	227529252	SO:0001819	synonymous_variant	126731	exon3			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.492G>A	1.37:g.229462629C>T			227529252	NM_145257	A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Silent	SNP	ENST00000366687.1	37	CCDS1577.1																																																																																				0.428	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257	
C1QC	714	broad.mit.edu	37	1	22973958	22973958	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:22973958C>A	ENST00000374639.3	+	3	538	c.420C>A	c.(418-420)ttC>ttA	p.F140L	C1QC_ENST00000374637.1_Missense_Mutation_p.F140L|C1QC_ENST00000374640.4_Missense_Mutation_p.F140L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	140	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.F140L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGATCAGATTCAACGCGGTCC	0.577																																					p.F140L	Ovarian(26;671 750 8290 29071 43278)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C420A	1						.						85.0	81.0	82.0					1																	22973958		2203	4300	6503	22846545	SO:0001583	missense	714	exon3			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.420C>A	1.37:g.22973958C>A	ENSP00000363770:p.Phe140Leu		22846545	NM_172369	Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928060	0.52759	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.86366	-2.11;-2.11;-2.11	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	M	0.93328	3.405	0.47862	D	0.99953	D	0.89917	1.0	D	0.97110	1.0	D	0.96473	0.9350	10	0.87932	D	0	.	16.7213	0.85410	0.0:1.0:0.0:0.0	.	140	P02747	C1QC_HUMAN	L	140	ENSP00000363771:F140L;ENSP00000363770:F140L;ENSP00000363768:F140L	ENSP00000363768:F140L	F	+	3	2	C1QC	22846545	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	3.230000	0.51286	2.280000	0.76307	0.561000	0.74099	TTC		0.577	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369	
NUP133	55746	broad.mit.edu	37	1	229631744	229631744	+	Silent	SNP	C	C	T	rs147071617	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:229631744C>T	ENST00000261396.3	-	7	961	c.870G>A	c.(868-870)acG>acA	p.T290T	NUP133_ENST00000537506.1_Silent_p.T274T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	290					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)	p.T290T(3)		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)				TGTTTGAACTCGTCAGGCTAT	0.363																																					p.T290T												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G870A	1						.	C		6,4400	11.4+/-27.6	0,6,2197	95.0	91.0	92.0		870	-4.8	0.2	1	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUP133	NM_018230.2		0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538		290/1157	229631744	7,12999	2203	4300	6503	227698367	SO:0001819	synonymous_variant	55746	exon7				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.870G>A	1.37:g.229631744C>T			227698367	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																				0.363	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
TSNAX	7257	broad.mit.edu	37	1	231700526	231700526	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:231700526T>G	ENST00000366639.4	+	6	906	c.748T>G	c.(748-750)Ttg>Gtg	p.L250V	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	250					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)	p.L250V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				GAAACAAAGTTTGGCCAAAGT	0.388																																					p.L250V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T748G	1						.						148.0	142.0	144.0					1																	231700526		2203	4300	6503	229767149	SO:0001583	missense	7257	exon6			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.748T>G	1.37:g.231700526T>G	ENSP00000355599:p.Leu250Val		229767149	NM_005999	B1APC6	Missense_Mutation	SNP	ENST00000366639.4	37	CCDS1596.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.361002	0.61403	.	.	ENSG00000116918	ENST00000366639	.	.	.	5.67	3.54	0.40534	Translin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	L	0.27975	0.815	0.58432	D	0.999997	D	0.61080	0.989	P	0.62089	0.898	T	0.40421	-0.9564	9	0.08381	T	0.77	.	10.2367	0.43288	0.0:0.8129:0.0:0.1871	.	250	Q99598	TSNAX_HUMAN	V	250	.	ENSP00000355599:L250V	L	+	1	2	TSNAX	229767149	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.702000	0.54800	0.645000	0.30675	-0.248000	0.11899	TTG		0.388	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999	
DISC1	27185	broad.mit.edu	37	1	231954098	231954098	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:231954098G>A	ENST00000602281.1	+	9	1869	c.1816G>A	c.(1816-1818)Gac>Aac	p.D606N	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.D606N|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.D606N|DISC1_ENST00000539444.1_Silent_p.K571K|DISC1_ENST00000439617.2_Missense_Mutation_p.D606N|DISC1_ENST00000366636.4_Missense_Mutation_p.D606N|DISC1_ENST00000602873.1_3'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	606	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.D606N(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GACGGCTAAAGACCTCACCGA	0.478																																					p.D606N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1816A	1						.						107.0	108.0	108.0					1																	231954098		2203	4300	6503	230020721	SO:0001583	missense	27185	exon9			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1816G>A	1.37:g.231954098G>A	ENSP00000473425:p.Asp606Asn		230020721	NM_001164539	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.955940	0.92726	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633	T;T;T;T	0.11063	2.99;2.82;2.81;2.99	5.23	5.23	0.72850	.	0.232716	0.42821	D	0.000656	T	0.30665	0.0772	.	.	.	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.67145	0.977;0.992;0.977;0.992;0.992;0.992;0.992;0.996;0.962;0.977;0.992;0.977;0.992;0.981	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.61592	0.787;0.891;0.787;0.891;0.866;0.856;0.891;0.866;0.645;0.787;0.891;0.787;0.891;0.761	T	0.01105	-1.1450	9	0.72032	D	0.01	-11.7623	17.1673	0.86820	0.0:0.0:1.0:0.0	.	638;484;638;606;606;484;606;606;606;606;606;606;606;606	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P0B6;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	N	606;606;606;638;484;606;606	ENSP00000403888:D606N;ENSP00000355596:D606N;ENSP00000443996:D606N;ENSP00000355593:D606N	ENSP00000355593:D606N	D	+	1	0	DISC1	230020721	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	6.116000	0.71571	2.714000	0.92807	0.591000	0.81541	GAC		0.478	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662	
SIPA1L2	57568	broad.mit.edu	37	1	232615429	232615429	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:232615429C>T	ENST00000366630.1	-	6	2387	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E677K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	677	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.E677K(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)				AACATGAGTTCGTAGTCTTTG	0.458																																					p.E677K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2029A	1						.						194.0	210.0	205.0					1																	232615429		2099	4255	6354	230682052	SO:0001583	missense	57568	exon5			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.2029G>A	1.37:g.232615429C>T	ENSP00000355589:p.Glu677Lys		230682052	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	36	5.651348	0.96714	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.96745	-4.11;-4.11	5.53	5.53	0.82687	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99084	1.0838	10	0.62326	D	0.03	-35.4286	19.8228	0.96604	0.0:1.0:0.0:0.0	.	677	Q9P2F8	SI1L2_HUMAN	K	677	ENSP00000355589:E677K;ENSP00000262861:E677K	ENSP00000262861:E677K	E	-	1	0	SIPA1L2	230682052	1.000000	0.71417	0.713000	0.30519	0.984000	0.73092	7.773000	0.85462	2.759000	0.94783	0.650000	0.86243	GAA		0.458	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
SIPA1L2	57568	broad.mit.edu	37	1	232650179	232650179	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:232650179C>T	ENST00000366630.1	-	2	1265	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E303K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	303					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.E303K(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)				TTGAAAGTTTCGTGCTCACTT	0.493																																					p.E303K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G907A	1						.						60.0	62.0	61.0					1																	232650179		1924	4135	6059	230716802	SO:0001583	missense	57568	exon1			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.907G>A	1.37:g.232650179C>T	ENSP00000355589:p.Glu303Lys		230716802	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045237	0.75846	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.80123	-1.34;-1.34	5.54	5.54	0.83059	.	0.189155	0.45126	D	0.000394	T	0.80722	0.4677	L	0.43923	1.385	0.58432	D	0.999992	D	0.56968	0.978	P	0.47941	0.562	T	0.80632	-0.1296	10	0.46703	T	0.11	-42.6064	19.6787	0.95950	0.0:1.0:0.0:0.0	.	303	Q9P2F8	SI1L2_HUMAN	K	303	ENSP00000355589:E303K;ENSP00000262861:E303K	ENSP00000262861:E303K	E	-	1	0	SIPA1L2	230716802	1.000000	0.71417	0.313000	0.25210	0.996000	0.88848	5.694000	0.68272	2.890000	0.99128	0.650000	0.86243	GAA		0.493	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
KDM1A	23028	broad.mit.edu	37	1	23382443	23382443	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:23382443T>G	ENST00000356634.3	+	6	991	c.842T>G	c.(841-843)gTa>gGa	p.V281G	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.V301G|MIR4419A_ENST00000583845.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.V301G	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	281					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|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)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|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)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.V301G(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACAGGAAAGGTAATTATTATA	0.353																																					p.V301G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T902G	1						.						91.0	99.0	96.0					1																	23382443		2203	4300	6503	23255030	SO:0001583	missense	23028	exon7			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.842T>G	1.37:g.23382443T>G	ENSP00000349049:p.Val281Gly		23255030	NM_001009999	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681791	0.88542	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.25414	1.8;1.8;1.8	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	T	0.59721	-0.7401	10	0.87932	D	0	-26.243	15.7258	0.77756	0.0:0.0:0.0:1.0	.	301;281	O60341-2;O60341	.;KDM1A_HUMAN	G	281;301;301	ENSP00000349049:V281G;ENSP00000383042:V301G;ENSP00000439072:V301G	ENSP00000349049:V281G	V	+	2	0	KDM1A	23255030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.844000	0.86867	2.311000	0.77944	0.533000	0.62120	GTA		0.353	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	
PCNXL2	80003	broad.mit.edu	37	1	233231577	233231577	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:233231577G>A	ENST00000258229.9	-	22	4104	c.3870C>T	c.(3868-3870)gtC>gtT	p.V1290V		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1290						integral component of membrane (GO:0016021)		p.V1290V(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)				CATATGTCAGGACGAACTGTA	0.448																																					p.V1290V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3870T	1						.						78.0	80.0	79.0					1																	233231577		1963	4157	6120	231298200	SO:0001819	synonymous_variant	80003	exon22			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.3870C>T	1.37:g.233231577G>A			231298200	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																				0.448	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
ARID4B	51742	broad.mit.edu	37	1	235344971	235344971	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:235344971G>A	ENST00000264183.3	-	20	3760	c.3263C>T	c.(3262-3264)tCg>tTg	p.S1088L	ARID4B_ENST00000366603.2_Missense_Mutation_p.S1088L|ARID4B_ENST00000349213.3_Missense_Mutation_p.S1002L|ARID4B_ENST00000494543.1_5'UTR	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1088					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.S1088L(2)		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)			ACCTGCTGGCGAGCTATTCCC	0.458																																					p.S1002L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3005T	1						.						112.0	103.0	106.0					1																	235344971		2203	4300	6503	233411594	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.3263C>T	1.37:g.235344971G>A	ENSP00000264183:p.Ser1088Leu		233411594	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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.017168|4.017168	0.75161|0.75161	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.27104	.|1.69;1.75;1.75	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.536026	.|0.20019	.|N	.|0.100959	T|T	0.48484|0.48484	0.1502|0.1502	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;0.998	.|D;D;D;D	.|0.85130	.|0.997;0.975;0.975;0.945	T|T	0.34104|0.34104	-0.9842|-0.9842	5|10	.|0.41790	.|T	.|0.15	-5.7685|-5.7685	18.6926|18.6926	0.91589|0.91589	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|769;1088;1002;1088	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	C|L	488|1088;1002;1088;1088	.|ENSP00000264184:S1002L;ENSP00000355562:S1088L;ENSP00000264183:S1088L	.|ENSP00000264183:S1088L	R|S	-|-	1|2	0|0	ARID4B|ARID4B	233411594|233411594	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.885000|0.885000	0.51271|0.51271	9.173000|9.173000	0.94815|0.94815	2.418000|2.418000	0.82041|0.82041	0.585000|0.585000	0.79938|0.79938	CGC|TCG		0.458	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
TBCE	6905	broad.mit.edu	37	1	235611997	235611997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:235611997G>T	ENST00000366601.3	+	17	1680	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000543662.1_Nonsense_Mutation_p.E553*|TBCE_ENST00000406207.1_Nonsense_Mutation_p.E502*			Q15813	TBCE_HUMAN	tubulin folding cofactor E	502					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)	p.E502K(1)|p.E502*(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GCCGGGCAGAGAAATCGAGCT	0.418																																					p.E502X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|skin(1)	c.G1504T	1						.						67.0	70.0	69.0					1																	235611997		2203	4300	6503	233678620	SO:0001587	stop_gained	6905	exon17			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1504G>T	1.37:g.235611997G>T	ENSP00000355560:p.Glu502*		233678620	NM_001079515	A8K8C2|B7Z3P1	Nonsense_Mutation	SNP	ENST00000366601.3	37	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740629	0.69304	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	.	.	.	4.96	4.96	0.65561	.	0.049963	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-30.8182	18.396	0.90499	0.0:0.0:1.0:0.0	.	.	.	.	X	502;502;553	.	ENSP00000355560:E502X	E	+	1	0	TBCE	233678620	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	6.989000	0.76219	2.564000	0.86499	0.561000	0.74099	GAA		0.418	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193	
LYST	1130	broad.mit.edu	37	1	235920637	235920637	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:235920637T>C	ENST00000389794.3	-	24	7177	c.7003A>G	c.(7003-7005)Aca>Gca	p.T2335A	LYST_ENST00000389793.2_Missense_Mutation_p.T2335A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2335					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.T2335A(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)			ACCAAAAGTGTATCTGCTTGA	0.363																																					p.T2335A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7003G	1						.						121.0	110.0	114.0					1																	235920637		2203	4300	6503	233987260	SO:0001583	missense	1130	exon24			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.7003A>G	1.37:g.235920637T>C	ENSP00000374444:p.Thr2335Ala		233987260	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	7.261	0.605157	0.14002	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67345	-0.26;-0.26	5.4	0.491	0.16867	.	0.730541	0.14041	N	0.345384	T	0.44414	0.1292	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20472	-1.0274	10	0.20046	T	0.44	.	6.5947	0.22666	0.1397:0.446:0.0:0.4144	.	2335	Q99698	LYST_HUMAN	A	2335	ENSP00000374444:T2335A;ENSP00000374443:T2335A	ENSP00000374443:T2335A	T	-	1	0	LYST	233987260	0.000000	0.05858	0.006000	0.13384	0.705000	0.40729	0.502000	0.22594	-0.165000	0.10908	0.377000	0.23210	ACA		0.363	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
NID1	4811	broad.mit.edu	37	1	236141179	236141179	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:236141179G>A	ENST00000264187.6	-	20	3814	c.3732C>T	c.(3730-3732)atC>atT	p.I1244I	NID1_ENST00000366595.3_Silent_p.I1111I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1244	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.I1244I(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)	ATTTCTGTTCGATACAGTCAA	0.502																																					p.I1244I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3732T	1						.						113.0	109.0	110.0					1																	236141179		2203	4300	6503	234207802	SO:0001819	synonymous_variant	4811	exon20			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.3732C>T	1.37:g.236141179G>A			234207802	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.502	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
NID1	4811	broad.mit.edu	37	1	236189236	236189236	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:236189236G>T	ENST00000264187.6	-	8	2026	c.1944C>A	c.(1942-1944)atC>atA	p.I648I	NID1_ENST00000366595.3_Silent_p.I648I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	648	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				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.I648I(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)	CATAGCGCAAGATCTTCTCCT	0.572																																					p.I648I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1944A	1						.						209.0	189.0	196.0					1																	236189236		2203	4300	6503	234255859	SO:0001819	synonymous_variant	4811	exon8			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.1944C>A	1.37:g.236189236G>T			234255859	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.572	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
ERO1LB	56605	broad.mit.edu	37	1	236433209	236433209	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:236433209T>G	ENST00000354619.5	-	2	389	c.188A>C	c.(187-189)aAa>aCa	p.K63T	ERO1LB_ENST00000327333.8_Missense_Mutation_p.K63T|RNU2-70P_ENST00000410718.1_RNA	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	63					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.K63T(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	CTCTTGCAATTTTTTTATTTT	0.308																																					p.K63T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A188C	1						.						76.0	82.0	80.0					1																	236433209		2203	4298	6501	234499832	SO:0001583	missense	56605	exon2			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.188A>C	1.37:g.236433209T>G	ENSP00000346635:p.Lys63Thr		234499832	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743795	0.69418	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	T;T	0.45276	0.9;0.9	5.53	4.41	0.53225	.	0.046521	0.85682	D	0.000000	T	0.48314	0.1493	L	0.41027	1.25	0.58432	D	0.999999	D;B	0.57571	0.98;0.02	P;B	0.59703	0.862;0.042	T	0.48340	-0.9044	10	0.62326	D	0.03	-21.985	9.9935	0.41885	0.0:0.0805:0.0:0.9195	.	63;63	B4DF57;Q86YB8	.;ERO1B_HUMAN	T	63	ENSP00000346635:K63T;ENSP00000377574:K63T	ENSP00000377574:K63T	K	-	2	0	ERO1LB	234499832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.152000	0.58111	2.101000	0.63845	0.533000	0.62120	AAA		0.308	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	
HEATR1	55127	broad.mit.edu	37	1	236739588	236739588	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:236739588A>C	ENST00000366582.3	-	22	3129	c.3015T>G	c.(3013-3015)agT>agG	p.S1005R	HEATR1_ENST00000366581.2_Missense_Mutation_p.S1005R	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1005					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.S1005R(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)			TATACACACAACTAAGTAAGT	0.358																																					p.S1005R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3015G	1						.						152.0	158.0	156.0					1																	236739588		2203	4300	6503	234806211	SO:0001583	missense	55127	exon22			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.3015T>G	1.37:g.236739588A>C	ENSP00000355541:p.Ser1005Arg		234806211	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.385652	0.25031	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.67345	-0.26;-0.25	5.33	1.79	0.24919	Armadillo-type fold (2);	1.003300	0.08017	N	0.991354	T	0.44973	0.1319	N	0.14661	0.345	0.49582	D	0.999802	B;B	0.14012	0.009;0.001	B;B	0.09377	0.004;0.003	T	0.21586	-1.0241	10	0.23302	T	0.38	.	4.5765	0.12236	0.6416:0.0:0.2264:0.132	.	1005;1005	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	R	1005	ENSP00000355541:S1005R;ENSP00000355540:S1005R	ENSP00000355540:S1005R	S	-	3	2	HEATR1	234806211	0.096000	0.21769	0.390000	0.26220	0.920000	0.55202	0.458000	0.21892	0.063000	0.16370	0.377000	0.23210	AGT		0.358	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
ACTN2	88	broad.mit.edu	37	1	236902625	236902625	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:236902625G>A	ENST00000366578.4	+	10	1066	c.900G>A	c.(898-900)acG>acA	p.T300T	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Silent_p.T300T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	300					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.T300T(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)			TTCGTCGCACGATCCCCTGGC	0.532																																					p.T300T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	1						.						105.0	108.0	107.0					1																	236902625		2203	4300	6503	234969248	SO:0001819	synonymous_variant	88	exon10			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.900G>A	1.37:g.236902625G>A			234969248	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																				0.532	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
ZNF436	80818	broad.mit.edu	37	1	23688783	23688783	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:23688783G>A	ENST00000314011.4	-	4	1228	c.1092C>T	c.(1090-1092)tgC>tgT	p.C364C	ZNF436_ENST00000374608.3_Silent_p.C364C	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	364					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.C364C(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)		CACAAGCATTGCATTCATATG	0.468																																					p.C364C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1092T	1						.						110.0	108.0	109.0					1																	23688783		2203	4300	6503	23561370	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.1092C>T	1.37:g.23688783G>A			23561370	NM_030634	Q658I9	Silent	SNP	ENST00000314011.4	37	CCDS233.1																																																																																				0.468	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634	
ACTN2	88	broad.mit.edu	37	1	236925808	236925808	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:236925808G>A	ENST00000366578.4	+	21	2740	c.2574G>A	c.(2572-2574)caG>caA	p.Q858Q	ACTN2_ENST00000546208.1_Silent_p.Q352Q|ACTN2_ENST00000542672.1_Silent_p.Q858Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	858					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.Q858Q(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)			CCCCGGATCAGGCCCAGTACT	0.582																																					p.Q858Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2574A	1						.						54.0	53.0	53.0					1																	236925808		2203	4300	6503	234992431	SO:0001819	synonymous_variant	88	exon21			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.2574G>A	1.37:g.236925808G>A			234992431	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																				0.582	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
RYR2	6262	broad.mit.edu	37	1	237586525	237586525	+	Missense_Mutation	SNP	G	G	A	rs201669522		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:237586525G>A	ENST00000366574.2	+	12	1299	c.982G>A	c.(982-984)Gca>Aca	p.A328T	RYR2_ENST00000360064.6_Missense_Mutation_p.A326T|RYR2_ENST00000542537.1_Missense_Mutation_p.A312T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	328	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A326T(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)			AAAATCAACAGCATTTACCTT	0.383																																					p.A328T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G982A	1						.	G	THR/ALA	1,3735		0,1,1867	94.0	89.0	91.0		982	5.5	1.0	1		91	1,8185		0,1,4092	yes	missense	RYR2	NM_001035.2	58	0,2,5959	AA,AG,GG		0.0122,0.0268,0.0168	possibly-damaging	328/4968	237586525	2,11920	1868	4093	5961	235653148	SO:0001583	missense	6262	exon12			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.982G>A	1.37:g.237586525G>A	ENSP00000355533:p.Ala328Thr		235653148	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951159	0.73787	2.68E-4	1.22E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88124	-2.34;-2.34;-2.34	5.52	5.52	0.82312	MIR motif (2);MIR (2);	0.000000	0.64402	D	0.000006	D	0.84261	0.5433	L	0.54323	1.7	0.80722	D	1	P	0.34934	0.476	B	0.29267	0.1	T	0.82418	-0.0467	10	0.30854	T	0.27	-12.5629	19.4398	0.94813	0.0:0.0:1.0:0.0	.	328	Q92736	RYR2_HUMAN	T	328;326;312	ENSP00000355533:A328T;ENSP00000353174:A326T;ENSP00000443798:A312T	ENSP00000353174:A326T	A	+	1	0	RYR2	235653148	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	9.781000	0.99029	2.598000	0.87819	0.655000	0.94253	GCA		0.383	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	237804242	237804242	+	Silent	SNP	G	G	A	rs371560909	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:237804242G>A	ENST00000366574.2	+	47	7478	c.7161G>A	c.(7159-7161)gcG>gcA	p.A2387A	RYR2_ENST00000360064.6_Silent_p.A2385A|RYR2_ENST00000542537.1_Silent_p.A2371A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2387	4 X approximate repeats.		A -> P (in CPVT1). {ECO:0000269|PubMed:15046073}.		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.A2385A(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)			TGGGGAACGCGATCATGACCT	0.443													G|||	6	0.00119808	0.0045	0.0	5008	,	,		19793	0.0		0.0	False		,,,				2504	0.0				p.A2387A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7161A	1						.	G		14,4172		0,14,2079	196.0	189.0	192.0		7161	-8.1	0.9	1		192	0,8486		0,0,4243	no	coding-synonymous	RYR2	NM_001035.2		0,14,6322	AA,AG,GG		0.0,0.3344,0.1105		2387/4968	237804242	14,12658	2093	4243	6336	235870865	SO:0001819	synonymous_variant	6262	exon47			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.7161G>A	1.37:g.237804242G>A			235870865	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.443	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	237814761	237814761	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:237814761A>G	ENST00000366574.2	+	51	8101	c.7784A>G	c.(7783-7785)gAt>gGt	p.D2595G	RYR2_ENST00000360064.6_Missense_Mutation_p.D2593G|RYR2_ENST00000542537.1_Missense_Mutation_p.D2579G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2595	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.D2593G(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)			TTAGTATTTGATGTTCCATTA	0.323																																					p.D2595G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7784G	1						.						91.0	81.0	84.0					1																	237814761		1842	4102	5944	235881384	SO:0001583	missense	6262	exon51			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.7784A>G	1.37:g.237814761A>G	ENSP00000355533:p.Asp2595Gly		235881384	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.709928	0.89018	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98381	-4.9;-4.9;-4.9	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000004	D	0.98924	0.9635	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99806	1.1038	10	0.87932	D	0	-15.6736	15.4811	0.75528	1.0:0.0:0.0:0.0	.	2595	Q92736	RYR2_HUMAN	G	2595;2593;2579	ENSP00000355533:D2595G;ENSP00000353174:D2593G;ENSP00000443798:D2579G	ENSP00000353174:D2593G	D	+	2	0	RYR2	235881384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.257000	0.95545	2.113000	0.64589	0.477000	0.44152	GAT		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	237819208	237819208	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:237819208T>G	ENST00000366574.2	+	53	8370	c.8053T>G	c.(8053-8055)Tat>Gat	p.Y2685D	RYR2_ENST00000360064.6_Missense_Mutation_p.Y2683D|RYR2_ENST00000542537.1_Missense_Mutation_p.Y2669D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2685	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.Y2683D(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)			GGAGTCAAATTATGTCAGTAT	0.423																																					p.Y2685D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8053G	1						.						64.0	63.0	63.0					1																	237819208		1858	4101	5959	235885831	SO:0001583	missense	6262	exon53			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.8053T>G	1.37:g.237819208T>G	ENSP00000355533:p.Tyr2685Asp		235885831	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066578	0.36470	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.09	5.95	4.82	0.62117	.	0.000000	0.56097	D	0.000023	D	0.92169	0.7517	L	0.40543	1.245	0.80722	D	1	P	0.39717	0.684	B	0.31812	0.136	D	0.90084	0.4172	10	0.39692	T	0.17	-15.1333	11.9668	0.53040	0.0:0.0675:0.0:0.9325	.	2685	Q92736	RYR2_HUMAN	D	2685;2683;2669	ENSP00000355533:Y2685D;ENSP00000353174:Y2683D;ENSP00000443798:Y2669D	ENSP00000353174:Y2683D	Y	+	1	0	RYR2	235885831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.484000	0.53201	1.079000	0.41038	0.460000	0.39030	TAT		0.423	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	237837422	237837422	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:237837422C>T	ENST00000366574.2	+	59	8934	c.8617C>T	c.(8617-8619)Ccc>Tcc	p.P2873S	RYR2_ENST00000360064.6_Missense_Mutation_p.P2871S|RYR2_ENST00000542537.1_Missense_Mutation_p.P2857S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2873	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.P2871S(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)			TCTGCTGGTGCCCTATGATAC	0.413																																					p.P2873S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8617T	1						.						112.0	109.0	110.0					1																	237837422		1954	4154	6108	235904045	SO:0001583	missense	6262	exon59			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.8617C>T	1.37:g.237837422C>T	ENSP00000355533:p.Pro2873Ser		235904045	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421095	0.83559	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92397	-3.03;-3.03;-3.03	5.32	5.32	0.75619	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000008	D	0.96861	0.8975	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.97535	1.0082	10	0.87932	D	0	.	19.0098	0.92868	0.0:1.0:0.0:0.0	.	2873	Q92736	RYR2_HUMAN	S	2873;2871;2857	ENSP00000355533:P2873S;ENSP00000353174:P2871S;ENSP00000443798:P2857S	ENSP00000353174:P2871S	P	+	1	0	RYR2	235904045	1.000000	0.71417	0.960000	0.40013	0.599000	0.36880	7.726000	0.84824	2.483000	0.83821	0.557000	0.71058	CCC		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
KMO	8564	broad.mit.edu	37	1	241714340	241714340	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:241714340C>A	ENST00000366559.4	+	4	619	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	KMO_ENST00000366557.4_Missense_Mutation_p.S103Y|KMO_ENST00000366558.3_Missense_Mutation_p.S103Y|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.S103Y(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)			GGGACAAAGTCTCAGGTAGGT	0.443																																					p.S103Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308A	1						.						133.0	131.0	132.0					1																	241714340		2203	4300	6503	239780963	SO:0001583	missense	8564	exon4			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.308C>A	1.37:g.241714340C>A	ENSP00000355517:p.Ser103Tyr		239780963	NM_003679		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133647	0.37630	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.50277	0.75;0.75;0.75	6.17	4.14	0.48551	Monooxygenase, FAD-binding (1);	0.260739	0.43747	D	0.000524	T	0.44850	0.1313	M	0.61703	1.905	0.23030	N	0.998402	P;P;P	0.38250	0.539;0.539;0.624	B;B;B	0.39465	0.3;0.3;0.198	T	0.48479	-0.9032	10	0.72032	D	0.01	.	8.0606	0.30631	0.2227:0.6308:0.1465:0.0	.	103;103;103	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	Y	103	ENSP00000355517:S103Y;ENSP00000355516:S103Y;ENSP00000355515:S103Y	ENSP00000355515:S103Y	S	+	2	0	KMO	239780963	0.540000	0.26410	0.966000	0.40874	0.564000	0.35744	1.443000	0.35057	1.587000	0.49959	0.655000	0.94253	TCT		0.443	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
KMO	8564	broad.mit.edu	37	1	241752099	241752099	+	Silent	SNP	G	G	A	rs566876281		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:241752099G>A	ENST00000366559.4	+	12	1376	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	KMO_ENST00000366557.4_Silent_p.A355A|KMO_ENST00000366558.3_Silent_p.A355A	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.A355A(3)		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)			ATGATCACGCGATTTCAGACC	0.363																																					p.A355A												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G1065A	1						.						182.0	168.0	173.0					1																	241752099		2203	4300	6503	239818722	SO:0001819	synonymous_variant	8564	exon12			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.1065G>A	1.37:g.241752099G>A			239818722	NM_003679		Silent	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	1.302	-0.604681	0.03717	.	.	ENSG00000117009	ENST00000366555	.	.	.	6.06	-8.99	0.00751	.	.	.	.	.	T	0.46190	0.1380	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53528	-0.8426	4	.	.	.	.	7.579	0.27952	0.3432:0.3067:0.3501:0.0	.	.	.	.	N	41	.	.	D	+	1	0	KMO	239818722	0.000000	0.05858	0.279000	0.24732	0.059000	0.15707	-5.767000	0.00099	-1.532000	0.01747	-1.619000	0.00793	GAT		0.363	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
WDR64	128025	broad.mit.edu	37	1	241875162	241875162	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:241875162G>A	ENST00000366552.2	+	8	1210	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	WDR64_ENST00000437684.2_Missense_Mutation_p.A335T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	335								p.A55T(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTGTGTTAAGGCAAATGTGAT	0.408																																					p.A335T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1003A	1						.						117.0	108.0	111.0					1																	241875162		2203	4300	6503	239941785	SO:0001583	missense	128025	exon8			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1003G>A	1.37:g.241875162G>A	ENSP00000355510:p.Ala335Thr		239941785	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.015900	0.75161	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.39056	2.23;1.1;5.05	4.84	4.84	0.62591	.	0.424132	0.22250	N	0.062562	T	0.62417	0.2426	M	0.71581	2.175	0.39009	D	0.959518	D	0.89917	1.0	D	0.91635	0.999	T	0.65512	-0.6150	10	0.52906	T	0.07	-14.8521	13.357	0.60633	0.0:0.0:1.0:0.0	.	55	D1MPS4	.	T	335;335;106	ENSP00000355510:A335T;ENSP00000402446:A335T;ENSP00000406656:A106T	ENSP00000355510:A335T	A	+	1	0	WDR64	239941785	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.180000	0.50895	2.527000	0.85204	0.643000	0.83706	GCA		0.408	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
C1orf101	257044	broad.mit.edu	37	1	244769012	244769012	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:244769012C>T	ENST00000366534.4	+	18	2373	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G	C1orf101_ENST00000366533.4_Silent_p.G773G|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.G622G	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	773						CatSper complex (GO:0036128)		p.G773G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-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(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATGATAATGGCTATGTTAAAG	0.358																																					p.G773G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2319T	1						.						123.0	119.0	121.0					1																	244769012		2203	4300	6503	242835635	SO:0001819	synonymous_variant	257044	exon18			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2319C>T	1.37:g.244769012C>T			242835635	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	CCDS44340.1																																																																																				0.358	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	
EFCAB2	84288	broad.mit.edu	37	1	245246987	245246987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:245246987G>T	ENST00000366522.2	+	7	919	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000447569.2_Nonsense_Mutation_p.E124*|EFCAB2_ENST00000366523.1_Nonsense_Mutation_p.E124*			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	260	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.E124*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			TATGACTGAAGAAGGTAAGTG	0.308																																					p.E124X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G370T	1						.						72.0	71.0	71.0					1																	245246987		2203	4299	6502	243313610	SO:0001587	stop_gained	84288	exon6			AB209286	CCDS31082.1, CCDS44341.1	1q44	2014-07-18			ENSG00000203666	ENSG00000203666		"""EF-hand domain containing"""	28166	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 8"""					23427265	Standard	NM_032328		Approved	MGC12458, DRC8, CFAP200	uc001ibc.2	Q5VUJ9	OTTHUMG00000040474	ENST00000366522.2:c.778G>T	1.37:g.245246987G>T	ENSP00000355479:p.Glu260*		243313610	NM_001143943	B4DZE9|Q59G23|Q9BS36	Nonsense_Mutation	SNP	ENST00000366522.2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.0|26.0|26.0	4.693773|4.693773|4.693773	0.88735|0.88735|0.88735	.|.|.	.|.|.	ENSG00000203666|ENSG00000203666|ENSG00000203666	ENST00000366523;ENST00000366522;ENST00000447569|ENST00000551317;ENST00000425550;ENST00000427529|ENST00000366521	.|.|.	.|.|.	.|.|.	5.67|5.67|5.67	4.75|4.75|4.75	0.60458|0.60458|0.60458	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.64159|0.64159	.|0.2573|0.2573	.|.|.	.|.|.	.|.|.	0.45139|0.45139|0.45139	D|D|D	0.998158|0.998158|0.998158	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.62826|0.62826	.|-0.6772|-0.6772	.|4|4	0.87932|.|.	D|.|.	0|.|.	.|.|.	12.5172|12.5172|12.5172	0.56038|0.56038|0.56038	0.0805:0.0:0.9195:0.0|0.0805:0.0:0.9195:0.0|0.0805:0.0:0.9195:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	124;260;124|115;115;31|182	.|.|.	ENSP00000355479:E260X|.|.	E|K|R	+|+|+	1|3|2	0|2|0	EFCAB2|EFCAB2|EFCAB2	243313610|243313610|243313610	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.871000|0.871000|0.871000	0.50021|0.50021|0.50021	6.743000|6.743000|6.743000	0.74848|0.74848|0.74848	1.405000|1.405000|1.405000	0.46838|0.46838|0.46838	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA		0.308	EFCAB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000097407.2		
KIF26B	55083	broad.mit.edu	37	1	245765894	245765894	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:245765894C>T	ENST00000407071.2	+	6	1806	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	KIF26B_ENST00000366518.4_Missense_Mutation_p.R75C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	456	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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.R456C(1)		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)			AGTCATGCTTCGCATCTGTTC	0.478																																					p.R456C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1366T	1						.						50.0	51.0	51.0					1																	245765894		1990	4160	6150	243832517	SO:0001583	missense	55083	exon6			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.1366C>T	1.37:g.245765894C>T	ENSP00000385545:p.Arg456Cys		243832517	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023538	0.75390	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	Kinesin, motor domain (3);	.	.	.	.	T	0.80507	0.4636	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87219	0.2252	9	0.87932	D	0	.	19.1618	0.93535	0.0:1.0:0.0:0.0	.	75;456	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	456;75;72	ENSP00000385545:R456C;ENSP00000355475:R75C	ENSP00000355475:R75C	R	+	1	0	KIF26B	243832517	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.938000	0.56583	2.602000	0.87976	0.655000	0.94253	CGC		0.478	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
ZNF670	93474	broad.mit.edu	37	1	247201199	247201199	+	Missense_Mutation	SNP	C	C	T	rs149848448		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:247201199C>T	ENST00000366503.2	-	4	880	c.722G>A	c.(721-723)cGc>cAc	p.R241H		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	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.R241H(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)			TTCATGTTGGCGAAGAGAACT	0.388													c|||	1	0.000199681	0.0	0.0	5008	,	,		21875	0.001		0.0	False		,,,				2504	0.0				p.R241H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G722A	1						.	T	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	81.0	81.0		719,722	-1.3	0.0	1	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense	ZNF670	NM_001204220.1,NM_033213.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	240/389,241/390	247201199	1,13005	2203	4300	6503	245267822	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.722G>A	1.37:g.247201199C>T	ENSP00000355459:p.Arg241His		245267822	NM_033213		Missense_Mutation	SNP	ENST00000366503.2	37	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	c	2.995	-0.207267	0.06180	2.27E-4	0.0	ENSG00000135747	ENST00000366503	T	0.07688	3.17	0.631	-1.26	0.09376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	L	0.42744	1.35	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.36696	-0.9737	9	0.35671	T	0.21	.	5.2292	0.15412	0.0:0.5572:0.0:0.4428	.	241	Q9BS34	ZN670_HUMAN	H	241	ENSP00000355459:R241H	ENSP00000355459:R241H	R	-	2	0	ZNF670	245267822	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.074000	0.03427	-0.884000	0.03976	-0.366000	0.07423	CGC		0.388	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213	
NLRP3	114548	broad.mit.edu	37	1	247588359	247588359	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:247588359G>T	ENST00000336119.3	+	3	2360	c.1614G>T	c.(1612-1614)gaG>gaT	p.E538D	NLRP3_ENST00000366496.2_Missense_Mutation_p.E538D|NLRP3_ENST00000391828.3_Missense_Mutation_p.E538D|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.E538D|NLRP3_ENST00000366497.2_Missense_Mutation_p.E538D|NLRP3_ENST00000348069.2_Missense_Mutation_p.E538D	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	538					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.E538D(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)			TGCTGGAAGAGGAAAAGGAAG	0.493																																					p.E538D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1614T	1						.						60.0	54.0	56.0					1																	247588359		2203	4299	6502	245654982	SO:0001583	missense	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.1614G>T	1.37:g.247588359G>T	ENSP00000337383:p.Glu538Asp		245654982	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.697027	0.15106	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	4.17	2.28	0.28536	.	0.117044	0.39146	N	0.001442	T	0.80874	0.4707	N	0.16368	0.405	0.27349	N	0.956288	B;B;B;B;B	0.13594	0.003;0.008;0.003;0.0;0.0	B;B;B;B;B	0.17098	0.006;0.015;0.017;0.008;0.002	T	0.64322	-0.6435	10	0.13108	T	0.6	.	5.8873	0.18888	0.1045:0.1947:0.7008:0.0	.	538;538;538;538;538	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	D	538	ENSP00000375704:E538D;ENSP00000355453:E538D;ENSP00000337383:E538D;ENSP00000294752:E538D;ENSP00000355452:E538D;ENSP00000375703:E538D	ENSP00000337383:E538D	E	+	3	2	NLRP3	245654982	0.743000	0.28239	0.953000	0.39169	0.692000	0.40212	-0.242000	0.08928	0.706000	0.31912	0.655000	0.94253	GAG		0.493	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
OR13G1	441933	broad.mit.edu	37	1	247835595	247835595	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:247835595G>T	ENST00000359688.2	-	1	770	c.749C>A	c.(748-750)tCt>tAt	p.S250Y	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S250Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATTACAGGAGAATAGTAAAG	0.443																																					p.S250Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C749A	1						.						151.0	130.0	137.0					1																	247835595		2203	4300	6503	245902218	SO:0001583	missense	441933	exon1			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.749C>A	1.37:g.247835595G>T	ENSP00000352717:p.Ser250Tyr		245902218	NM_001005487	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126008	0.37533	.	.	ENSG00000197437	ENST00000359688	T	0.37584	1.19	4.2	-0.686	0.11324	GPCR, rhodopsin-like superfamily (1);	0.191943	0.26432	N	0.024412	T	0.55242	0.1908	M	0.81112	2.525	0.09310	N	1	D	0.59357	0.985	D	0.68353	0.957	T	0.51293	-0.8724	10	0.87932	D	0	-32.4024	10.49	0.44746	0.0849:0.594:0.3211:0.0	.	250	Q8NGZ3	O13G1_HUMAN	Y	250	ENSP00000352717:S250Y	ENSP00000352717:S250Y	S	-	2	0	OR13G1	245902218	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-3.223000	0.00551	-0.234000	0.09782	0.563000	0.77884	TCT		0.443	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487	
OR13G1	441933	broad.mit.edu	37	1	247836013	247836013	+	Missense_Mutation	SNP	G	G	T	rs267598477		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:247836013G>T	ENST00000359688.2	-	1	352	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L111I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGGTGAAGAGAACCATCTCA	0.468																																					p.L111I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C331A	1						.						91.0	75.0	81.0					1																	247836013		2203	4300	6503	245902636	SO:0001583	missense	441933	exon1			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.331C>A	1.37:g.247836013G>T	ENSP00000352717:p.Leu111Ile		245902636	NM_001005487	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752916	0.49362	.	.	ENSG00000197437	ENST00000359688	T	0.00585	6.39	4.2	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001354	T	0.01765	0.0056	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.37009	-0.9724	10	0.66056	D	0.02	-50.5602	9.9605	0.41693	0.1017:0.0:0.8983:0.0	.	111	Q8NGZ3	O13G1_HUMAN	I	111	ENSP00000352717:L111I	ENSP00000352717:L111I	L	-	1	0	OR13G1	245902636	0.000000	0.05858	0.002000	0.10522	0.717000	0.41224	-0.571000	0.05889	1.103000	0.41568	0.563000	0.77884	CTC		0.468	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487	
OR2L3	391192	broad.mit.edu	37	1	248224497	248224497	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:248224497G>A	ENST00000359959.3	+	1	514	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A172T(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)			CCAATCCAGGGCCATCAATCA	0.468																																					p.A172T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514A	1						.						118.0	158.0	144.0					1																	248224497		2202	4299	6501	246291120	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.514G>A	1.37:g.248224497G>A	ENSP00000353044:p.Ala172Thr		246291120	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	2.825	-0.243963	0.05906	.	.	ENSG00000198128	ENST00000359959	T	0.00123	8.7	2.05	0.895	0.19247	GPCR, rhodopsin-like superfamily (1);	1.126930	0.06999	N	0.823061	T	0.00109	0.0003	N	0.04018	-0.295	0.09310	N	1	B	0.12013	0.005	B	0.20955	0.032	T	0.09314	-1.0680	10	0.49607	T	0.09	.	10.4986	0.44791	0.0:0.3149:0.6851:0.0	.	172	Q8NG85	OR2L3_HUMAN	T	172	ENSP00000353044:A172T	ENSP00000353044:A172T	A	+	1	0	OR2L3	246291120	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-1.461000	0.02366	1.124000	0.41980	0.462000	0.41574	GCC		0.468	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
OR2L13	284521	broad.mit.edu	37	1	248262753	248262753	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:248262753C>A	ENST00000358120.2	+	2	221	c.76C>A	c.(76-78)Ctc>Atc	p.L26I	OR2L13_ENST00000366478.2_Missense_Mutation_p.L26I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L26I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TGGAATATTTCTCTTGTGCCT	0.438																																					p.L26I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C76A	1						.						181.0	179.0	180.0					1																	248262753		2203	4300	6503	246329376	SO:0001583	missense	284521	exon3			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.76C>A	1.37:g.248262753C>A	ENSP00000350836:p.Leu26Ile		246329376	NM_175911	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698283	0.30142	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.16457	2.34;2.34	4.07	3.16	0.36331	.	0.606738	0.13682	N	0.370112	T	0.14227	0.0344	L	0.53671	1.685	0.09310	N	1	P	0.39060	0.657	B	0.28232	0.087	T	0.12863	-1.0531	10	0.59425	D	0.04	.	8.9036	0.35510	0.0:0.8142:0.0:0.1858	.	26	Q8N349	OR2LD_HUMAN	I	26	ENSP00000355434:L26I;ENSP00000350836:L26I	ENSP00000350836:L26I	L	+	1	0	OR2L13	246329376	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.072000	0.11486	0.908000	0.36671	0.650000	0.86243	CTC		0.438	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2M4	26245	broad.mit.edu	37	1	248402933	248402933	+	Missense_Mutation	SNP	C	C	T	rs200070415		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:248402933C>T	ENST00000306687.1	+	1	703	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	235					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.R235C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GGAAAGTCGTCGCAAGGCCTT	0.493																																					p.R235C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C703T	1						.						106.0	98.0	101.0					1																	248402933		2203	4300	6503	246469556	SO:0001583	missense	26245	exon1			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.703C>T	1.37:g.248402933C>T	ENSP00000306688:p.Arg235Cys		246469556	NM_017504	Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	5.277	0.236539	0.10023	.	.	ENSG00000171180	ENST00000306687	T	0.00164	8.64	3.34	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.833687	0.10017	N	0.726396	T	0.00178	0.0005	L	0.42581	1.335	0.09310	N	1	B	0.21688	0.059	B	0.21546	0.035	T	0.29579	-1.0007	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.8742:0.0:0.1258	.	235	Q96R27	OR2M4_HUMAN	C	235	ENSP00000306688:R235C	ENSP00000306688:R235C	R	+	1	0	OR2M4	246469556	0.000000	0.05858	0.002000	0.10522	0.238000	0.25445	-1.957000	0.01521	0.646000	0.30693	0.543000	0.68304	CGC		0.493	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
OR2T33	391195	broad.mit.edu	37	1	248436875	248436875	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:248436875G>C	ENST00000318021.2	-	1	263	c.242C>G	c.(241-243)gCt>gGt	p.A81G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A81G(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CAAGTAGTCAGCCGCCATTTT	0.577																																					p.A81G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C242G	1						.						65.0	61.0	62.0					1																	248436875		2200	4294	6494	246503498	SO:0001583	missense	391195	exon1				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.242C>G	1.37:g.248436875G>C	ENSP00000324687:p.Ala81Gly		246503498	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.086	-1.174437	0.01646	.	.	ENSG00000177212	ENST00000318021	T	0.00392	7.58	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	1.047370	0.07654	U	0.932486	T	0.00328	0.0010	L	0.55834	1.745	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.43829	-0.9367	10	0.48119	T	0.1	.	5.6691	0.17713	0.1223:0.2041:0.6737:0.0	.	81	Q8NG76	O2T33_HUMAN	G	81	ENSP00000324687:A81G	ENSP00000324687:A81G	A	-	2	0	OR2T33	246503498	0.000000	0.05858	0.022000	0.16811	0.083000	0.17756	-1.649000	0.01993	1.437000	0.47472	0.494000	0.49563	GCT		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
OR2T1	26696	broad.mit.edu	37	1	248570399	248570399	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:248570399C>A	ENST00000366474.1	+	1	1104	c.1104C>A	c.(1102-1104)gtC>gtA	p.V368V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	368						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V368V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			CAGGAGGTGTCTTTTGACAGT	0.507																																					p.V368V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1104A	1						.						109.0	118.0	115.0					1																	248570399		2203	4300	6503	246637022	SO:0001819	synonymous_variant	26696	exon1			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.1104C>A	1.37:g.248570399C>A			246637022	NM_030904	Q6IEZ9	Silent	SNP	ENST00000366474.1	37	CCDS31115.1																																																																																				0.507	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2		
OR2G6	391211	broad.mit.edu	37	1	248685229	248685229	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:248685229C>T	ENST00000343414.4	+	1	314	c.282C>T	c.(280-282)taC>taT	p.Y94Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y94Y(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)			CCATGAGCTACGGTGGCTGTG	0.532																																					p.Y94Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282T	1						.						119.0	115.0	117.0					1																	248685229		2203	4300	6503	246751852	SO:0001819	synonymous_variant	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.282C>T	1.37:g.248685229C>T			246751852	NM_001013355	B2RP33	Silent	SNP	ENST00000343414.4	37	CCDS31119.1																																																																																				0.532	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	
KCNAB2	8514	broad.mit.edu	37	1	6142306	6142306	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:6142306G>A	ENST00000164247.1	+	6	817	c.253G>A	c.(253-255)Gat>Aat	p.D85N	KCNAB2_ENST00000352527.1_Missense_Mutation_p.D71N|KCNAB2_ENST00000378087.3_Missense_Mutation_p.D85N|KCNAB2_ENST00000341524.1_Missense_Mutation_p.D85N|KCNAB2_ENST00000602612.1_Missense_Mutation_p.D85N|KCNAB2_ENST00000378083.3_Missense_Mutation_p.D118N|KCNAB2_ENST00000458166.2_Missense_Mutation_p.D18N|KCNAB2_ENST00000378097.1_Missense_Mutation_p.D85N|KCNAB2_ENST00000378092.1_Missense_Mutation_p.D71N|KCNAB2_ENST00000378111.1_Missense_Mutation_p.D85N	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	85					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.D85N(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCTCTTCGATACAGCAGA	0.557																																					p.D18N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	1						.						130.0	116.0	121.0					1																	6142306		2203	4300	6503	6064893	SO:0001583	missense	8514	exon4			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.253G>A	1.37:g.6142306G>A	ENSP00000164247:p.Asp85Asn		6064893	NM_001199863	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	CCDS55.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923963	0.92319	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000352527;ENST00000435937;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.33	5.33	0.75918	NADP-dependent oxidoreductase domain (3);	0.043918	0.85682	D	0.000000	D	0.86908	0.6046	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.928;0.932;0.999	D	0.91585	0.5282	10	0.87932	D	0	-8.4899	17.5837	0.87974	0.0:0.0:1.0:0.0	.	118;71;85;85	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	N	85;85;71;71;85;85;85;71;71;85;118;18	ENSP00000367351:D85N;ENSP00000367337:D85N;ENSP00000367332:D71N;ENSP00000400285:D71N;ENSP00000374283:D85N;ENSP00000367327:D85N;ENSP00000340824:D85N;ENSP00000318772:D71N;ENSP00000389151:D71N;ENSP00000164247:D85N;ENSP00000367323:D118N;ENSP00000396167:D18N	ENSP00000164247:D85N	D	+	1	0	KCNAB2	6064893	1.000000	0.71417	0.764000	0.31436	0.899000	0.52679	8.470000	0.90399	2.482000	0.83794	0.563000	0.77884	GAT		0.557	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130	
CHD5	26038	broad.mit.edu	37	1	6211107	6211107	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:6211107G>A	ENST00000262450.3	-	7	1078	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R327C(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTCTTCTTGCGCCTCCTCTTG	0.597																																					p.R327C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C979T	1						.						99.0	93.0	95.0					1																	6211107		2203	4300	6503	6133694	SO:0001583	missense	26038	exon7			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.979C>T	1.37:g.6211107G>A	ENSP00000262450:p.Arg327Cys		6133694	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	15.26	2.780389	0.49891	.	.	ENSG00000116254	ENST00000262450	D	0.85339	-1.97	4.0	1.66	0.24008	Zinc finger, FYVE/PHD-type (1);	0.085001	0.47093	U	0.000255	T	0.71913	0.3396	L	0.38175	1.15	0.80722	D	1	D	0.60575	0.988	B	0.38106	0.265	T	0.70174	-0.4944	10	0.87932	D	0	-18.1038	4.9195	0.13862	0.1206:0.0:0.4122:0.4672	.	327	Q8TDI0	CHD5_HUMAN	C	327	ENSP00000262450:R327C	ENSP00000262450:R327C	R	-	1	0	CHD5	6133694	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	3.267000	0.51577	0.820000	0.34516	0.457000	0.33378	CGC		0.597	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
DNAJC11	55735	broad.mit.edu	37	1	6727783	6727783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:6727783G>A	ENST00000377577.5	-	4	487	c.364C>T	c.(364-366)Cga>Tga	p.R122*	DNAJC11_ENST00000377573.5_Nonsense_Mutation_p.R32*|DNAJC11_ENST00000294401.7_Nonsense_Mutation_p.R122*|DNAJC11_ENST00000542246.1_Nonsense_Mutation_p.R84*|DNAJC11_ENST00000349363.6_Nonsense_Mutation_p.R84*	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	122						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.R122*(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GGATTGGTTCGCTGCTGCAAT	0.502																																					p.R122X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C364T	1						.						60.0	55.0	57.0					1																	6727783		2203	4300	6503	6650370	SO:0001587	stop_gained	55735	exon4			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.364C>T	1.37:g.6727783G>A	ENSP00000366800:p.Arg122*		6650370	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Nonsense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	39	7.639113	0.98406	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3954	18.6777	0.91534	0.0:0.0:1.0:0.0	.	.	.	.	X	122;98;84;122;84;32;122	.	ENSP00000294401:R122X	R	-	1	2	DNAJC11	6650370	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.759000	0.47573	2.644000	0.89710	0.591000	0.81541	CGA		0.502	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
CAMTA1	23261	broad.mit.edu	37	1	7151393	7151393	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:7151393G>A	ENST00000303635.7	+	4	471	c.264G>A	c.(262-264)gaG>gaA	p.E88E	CAMTA1_ENST00000439411.2_Silent_p.E88E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E88E(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)		TAACATTTGAGAAACACGAAG	0.348			T	WWTR1	epitheliod hemangioendothelioma																																p.E88E			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G264A	1						.						109.0	102.0	105.0					1																	7151393		2203	4300	6503	7073980	SO:0001819	synonymous_variant	23261	exon4			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.264G>A	1.37:g.7151393G>A			7073980	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																				0.348	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
PER3	8863	broad.mit.edu	37	1	7887816	7887816	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:7887816C>T	ENST00000361923.2	+	17	2978	c.2803C>T	c.(2803-2805)Ccc>Tcc	p.P935S	PER3_ENST00000377532.3_Missense_Mutation_p.P943S|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	935					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.P935S(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)		GGAAGAGATGCCCAGACCCTC	0.478																																					p.P935S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2803T	1						.						72.0	66.0	68.0					1																	7887816		2203	4300	6503	7810403	SO:0001583	missense	8863	exon17			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.2803C>T	1.37:g.7887816C>T	ENSP00000355031:p.Pro935Ser		7810403	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888171	0.33348	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.11930	2.73;2.75	4.63	2.77	0.32553	.	0.392055	0.28398	N	0.015500	T	0.12135	0.0295	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.33940	0.307;0.307;0.433;0.307	B;B;B;B	0.26310	0.031;0.031;0.068;0.031	T	0.15549	-1.0433	10	0.29301	T	0.29	.	10.0962	0.42478	0.0:0.8378:0.0:0.1622	.	935;943;943;935	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	943;935;146	ENSP00000366755:P943S;ENSP00000355031:P935S	ENSP00000355031:P935S	P	+	1	0	PER3	7810403	0.995000	0.38212	0.002000	0.10522	0.245000	0.25701	3.482000	0.53186	0.585000	0.29608	0.561000	0.74099	CCC		0.478	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
RERE	473	broad.mit.edu	37	1	8555165	8555165	+	Silent	SNP	G	G	A	rs191613098		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:8555165G>A	ENST00000337907.3	-	11	1696	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	RERE_ENST00000377464.1_Silent_p.V86V|RERE_ENST00000400907.2_Silent_p.V354V|RERE_ENST00000400908.2_Silent_p.V354V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	354	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V354V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAGAGGCTGCGACACAGCCGT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18715	0.0		0.0	False		,,,				2504	0.0				p.V354V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T	1						.						203.0	204.0	204.0					1																	8555165		2203	4300	6503	8477752	SO:0001819	synonymous_variant	473	exon11			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1062C>T	1.37:g.8555165G>A			8477752	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.468	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
CA6	765	broad.mit.edu	37	1	9027809	9027809	+	Silent	SNP	G	G	A	rs144483907		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:9027809G>A	ENST00000377443.2	+	6	667	c.663G>A	c.(661-663)acG>acA	p.T221T	CA6_ENST00000377436.3_Silent_p.T221T|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.T161T	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	221	Substrate binding. {ECO:0000250}.				bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.T221T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	CACTCACCACGCCTCCCTGCA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19443	0.001		0.0	False		,,,				2504	0.0				p.T221T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G663A	1						.						184.0	137.0	153.0					1																	9027809		2203	4300	6503	8950396	SO:0001819	synonymous_variant	765	exon6			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.663G>A	1.37:g.9027809G>A			8950396	NM_001215	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	CCDS30578.1																																																																																				0.532	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1		
PIK3CD	5293	broad.mit.edu	37	1	9713838	9713838	+	Intron	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:9713838C>A	ENST00000377346.4	+	1	58				PIK3CD_ENST00000536656.1_Intron|C1orf200_ENST00000377320.3_Nonstop_Mutation_p.*168L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta						adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.*168L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-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;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCTGGAGTTTCATTTCTTGAT	0.488																																					.												.	.	1	Nonstop extension(1)	large_intestine(1)	.	1						.						118.0	119.0	119.0					1																	9713838		1865	4100	5965	9636425	SO:0001627	intron_variant	644997	.				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.-138+1978C>A	1.37:g.9713838C>A			9636425	.	A6NCG0|G1FFP1|O15445|Q5SR49	Nonstop_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885366	0.02511	.	.	ENSG00000179840	ENST00000377320	.	.	.	2.54	-0.596	0.11657	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2724	0.02024	0.1406:0.2257:0.4157:0.218	.	.	.	.	L	168	.	.	X	-	2	2	C1orf200	9636425	0.000000	0.05858	0.002000	0.10522	0.074000	0.17049	-0.532000	0.06164	-0.126000	0.11682	-0.147000	0.13772	TGA		0.488	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	
ARID1A	8289	broad.mit.edu	37	1	27094291	27094291	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:27094291C>A	ENST00000324856.7	+	11	3370	c.2999C>A	c.(2998-3000)tCt>tAt	p.S1000Y	ARID1A_ENST00000457599.2_Missense_Mutation_p.S1000Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.S617Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1000	Poly-Ser.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S1000Y(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAATCCAGTTCTTCTACTACA	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.S1000Y			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2999A	1						.						83.0	75.0	77.0					1																	27094291		2203	4300	6503	26966878	SO:0001583	missense	8289	exon11			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2999C>A	1.37:g.27094291C>A	ENSP00000320485:p.Ser1000Tyr		26966878	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923617	0.92319	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03035	4.28;4.07;4.1	5.17	5.17	0.71159	ARID/BRIGHT DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.996	T	0.00673	-1.1616	10	0.33940	T	0.23	-10.6341	18.8566	0.92255	0.0:1.0:0.0:0.0	.	1000;1000;654	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	Y	1000;1000;617	ENSP00000320485:S1000Y;ENSP00000387636:S1000Y;ENSP00000363267:S617Y	ENSP00000320485:S1000Y	S	+	2	0	ARID1A	26966878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.678000	0.91216	0.655000	0.94253	TCT		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
RPA2	6118	broad.mit.edu	37	1	28240623	28240623	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:28240623G>A	ENST00000373912.3	-	2	367	c.68C>T	c.(67-69)tCc>tTc	p.S23F	RPA2_ENST00000373909.3_Missense_Mutation_p.S31F|RPA2_ENST00000313433.7_Missense_Mutation_p.S111F	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	23	Gly/Ser-rich.				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|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 A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)	p.S23F(1)|p.S111F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCCGGGGACTGCGTGTA	0.537								Direct reversal of damage;Nucleotide excision repair (NER)																													p.S23F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C68T	1						.						46.0	54.0	51.0					1																	28240623		2203	4300	6503	28113210	SO:0001583	missense	6118	exon2			BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.68C>T	1.37:g.28240623G>A	ENSP00000363021:p.Ser23Phe		28113210	NM_002946	Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628892	0.87560	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.26518	2.03;2.04;2.0;1.73	4.59	4.59	0.56863	.	0.165852	0.56097	D	0.000037	T	0.48429	0.1499	M	0.69823	2.125	0.49389	D	0.999787	P;D	0.67145	0.61;0.996	B;P	0.62813	0.332;0.907	T	0.53258	-0.8464	10	0.66056	D	0.02	-6.2517	16.5256	0.84330	0.0:0.0:1.0:0.0	.	23;31	P15927;P15927-2	RFA2_HUMAN;.	F	23;31;111;27	ENSP00000363021:S23F;ENSP00000363017:S31F;ENSP00000363015:S111F;ENSP00000387649:S27F	ENSP00000363015:S111F	S	-	2	0	RPA2	28113210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.646000	0.83445	2.261000	0.74972	0.555000	0.69702	TCC		0.537	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946	
PHACTR4	65979	broad.mit.edu	37	1	28818268	28818268	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:28818268A>C	ENST00000373839.3	+	12	2246	c.1985A>C	c.(1984-1986)aAa>aCa	p.K662T	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.K672T	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	662					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.K672T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGCCGACAAACCTTGGACC	0.443																																					p.K672T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2015C	1						.						73.0	79.0	77.0					1																	28818268		1902	4117	6019	28690855	SO:0001583	missense	65979	exon11			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1985A>C	1.37:g.28818268A>C	ENSP00000362945:p.Lys662Thr		28690855	NM_023923	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.890302	0.91889	.	.	ENSG00000204138	ENST00000373839;ENST00000373836	T;T	0.40476	1.04;1.03	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.66838	-0.5822	10	0.87932	D	0	-9.2669	15.31	0.74023	1.0:0.0:0.0:0.0	.	672;662	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	T	662;672	ENSP00000362945:K662T;ENSP00000362942:K672T	ENSP00000362942:K672T	K	+	2	0	PHACTR4	28690855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.292000	0.96076	2.209000	0.71365	0.456000	0.33151	AAA		0.443	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
MATN1	4146	broad.mit.edu	37	1	31189685	31189685	+	Missense_Mutation	SNP	C	C	T	rs373848420		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:31189685C>T	ENST00000373765.4	-	4	777	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	248	EGF-like.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A248T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGCAGGCGCAGGTGTAG	0.622																																					p.A248T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	1						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	59.0	64.0		742	1.8	0.8	1		64	0,8600		0,0,4300	no	missense	MATN1	NM_002379.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	248/497	31189685	1,13005	2203	4300	6503	30962272	SO:0001583	missense	4146	exon4			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.742G>A	1.37:g.31189685C>T	ENSP00000362870:p.Ala248Thr		30962272	NM_002379	B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238134	0.22711	2.27E-4	0.0	ENSG00000162510	ENST00000373765	D	0.85955	-2.05	5.12	1.76	0.24704	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	.	.	.	.	T	0.67655	0.2916	N	0.05487	-0.04	0.54753	D	0.999981	B;B	0.15930	0.006;0.015	B;B	0.13407	0.009;0.009	T	0.54583	-0.8272	9	0.17369	T	0.5	-18.6134	10.4414	0.44469	0.2488:0.6811:0.0:0.0701	.	232;248	A3KMG0;P21941	.;MATN1_HUMAN	T	248	ENSP00000362870:A248T	ENSP00000362870:A248T	A	-	1	0	MATN1	30962272	0.999000	0.42202	0.813000	0.32504	0.620000	0.37586	4.002000	0.57053	0.530000	0.28619	-0.181000	0.13052	GCC		0.622	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379	
LAPTM5	7805	broad.mit.edu	37	1	31206723	31206723	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:31206723C>T	ENST00000294507.3	-	8	815	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	247	Pro-rich.				transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)		p.S247S(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGTCTTCGATGGCAAAG	0.612																																					p.S247S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G741A	1						.						33.0	35.0	34.0					1																	31206723		2202	4300	6502	30979310	SO:0001819	synonymous_variant	7805	exon8			U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.741G>A	1.37:g.31206723C>T			30979310	NM_006762	Q13240|Q14698|Q3KP54	Silent	SNP	ENST00000294507.3	37	CCDS337.1																																																																																				0.612	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762	
SPOCD1	90853	broad.mit.edu	37	1	32259811	32259811	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:32259811C>T	ENST00000360482.2	-	11	2426	c.2297G>A	c.(2296-2298)aGc>aAc	p.S766N	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.S259N|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S766N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	766					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.S766N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCCTGTGGGCTGCAGTCCAT	0.647																																					p.S766N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2297A	1						.						66.0	52.0	57.0					1																	32259811		2203	4300	6503	32032398	SO:0001583	missense	90853	exon11			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2297G>A	1.37:g.32259811C>T	ENSP00000353670:p.Ser766Asn		32032398	NM_144569	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.768505|1.768505	0.31320|0.31320	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000528579|ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	.|T;T;T;T	.|0.47869	.|0.84;1.84;0.83;1.84	5.07|5.07	4.15|4.15	0.48705|0.48705	.|.	.|.	.|.	.|.	.|.	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.52573|0.52573	1.65|1.65	0.32237|0.32237	N|N	0.573214|0.573214	.|B;B;B	.|0.32693	.|0.138;0.022;0.38	.|B;B;B	.|0.25506	.|0.061;0.009;0.056	T|T	0.45775|0.45775	-0.9238|-0.9238	5|9	.|0.35671	.|T	.|0.21	-1.9578|-1.9578	8.7933|8.7933	0.34863|0.34863	0.0:0.8984:0.0:0.1016|0.0:0.8984:0.0:0.1016	.|.	.|766;202;766	.|Q6ZMY3-2;E9PPM7;Q6ZMY3	.|.;.;SPOC1_HUMAN	T|N	140|259;766;163;202;766;109	.|ENSP00000257100:S259N;ENSP00000353670:S766N;ENSP00000399778:S202N;ENSP00000435851:S766N	.|ENSP00000257100:S259N	A|S	-|-	1|2	0|0	SPOCD1|SPOCD1	32032398|32032398	0.998000|0.998000	0.40836|0.40836	0.073000|0.073000	0.20177|0.20177	0.018000|0.018000	0.09664|0.09664	2.504000|2.504000	0.45416|0.45416	2.533000|2.533000	0.85409|0.85409	0.557000|0.557000	0.71058|0.71058	GCC|AGC		0.647	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	
KPNA6	23633	broad.mit.edu	37	1	32635543	32635543	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:32635543G>A	ENST00000373625.3	+	13	1398	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S	KPNA6_ENST00000545542.1_Silent_p.S440S|RP4-622L5.2_ENST00000515055.1_RNA|KPNA6_ENST00000537234.1_Silent_p.S432S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	435					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.S435S(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TAATGGATTCGAAGATTGTGC	0.542																																					p.S435S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1305A	1						.						181.0	170.0	174.0					1																	32635543		2203	4300	6503	32408130	SO:0001819	synonymous_variant	23633	exon13			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.1305G>A	1.37:g.32635543G>A			32408130	NM_012316	B2RDC7|D3DPP5|Q5VVU3	Silent	SNP	ENST00000373625.3	37	CCDS352.1																																																																																				0.542	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316	
FAM167B	84734	broad.mit.edu	37	1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637																																					p.R56H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	1						.						35.0	45.0	42.0					1																	32713189		1949	4132	6081	32485776	SO:0001583	missense	84734	exon1			BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.167G>A	1.37:g.32713189G>A	ENSP00000362684:p.Arg56His		32485776	NM_032648	Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	9.421	1.083135	0.20309	.	.	ENSG00000183615	ENST00000373582	T	0.62639	0.01	5.32	-5.07	0.02938	.	1.202870	0.06305	U	0.701525	T	0.38480	0.1042	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.26408	T	0.33	-3.3016	8.7233	0.34454	0.5466:0.0:0.3569:0.0965	.	56	Q9BTA0	F167B_HUMAN	H	56	ENSP00000362684:R56H	ENSP00000362684:R56H	R	+	2	0	FAM167B	32485776	0.000000	0.05858	0.005000	0.12908	0.713000	0.41058	-0.761000	0.04751	-0.931000	0.03746	-0.258000	0.10820	CGC		0.637	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648	
LCK	3932	broad.mit.edu	37	1	32741971	32741971	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:32741971G>A	ENST00000336890.5	+	8	803	c.665G>A	c.(664-666)cGc>cAc	p.R222H	LCK_ENST00000373564.3_Intron|LCK_ENST00000333070.4_Missense_Mutation_p.R222H	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	222	Interaction with PTPRH.|SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.R222H(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CGGTTGAGCCGCCCCTGCCAG	0.652			T	TRB@	T-ALL																																p.R222H			Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665A	1						.						44.0	54.0	51.0					1																	32741971		2203	4300	6503	32514558	SO:0001583	missense	3932	exon8			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.665G>A	1.37:g.32741971G>A	ENSP00000337825:p.Arg222His		32514558	NM_001042771	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	.	.	.	.	.	.	.	.	.	.	.	16.51	3.143500	0.57044	.	.	ENSG00000182866	ENST00000336890;ENST00000373557;ENST00000333070;ENST00000436824	T;D;T	0.92495	1.78;-3.05;1.78	4.91	4.91	0.64330	SH2 motif (2);	0.174581	0.40908	D	0.001000	D	0.83737	0.5319	N	0.20766	0.605	0.80722	D	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.12837	0.003;0.008;0.002	T	0.77907	-0.2412	10	0.41790	T	0.15	.	7.6025	0.28083	0.1742:0.0:0.8258:0.0	.	266;222;222	E7EN21;P06239-3;P06239	.;.;LCK_HUMAN	H	222;266;222;266	ENSP00000337825:R222H;ENSP00000362658:R266H;ENSP00000328213:R222H	ENSP00000328213:R222H	R	+	2	0	LCK	32514558	0.818000	0.29161	1.000000	0.80357	0.861000	0.49209	3.120000	0.50430	2.735000	0.93741	0.555000	0.69702	CGC		0.652	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	
PHC2	1912	broad.mit.edu	37	1	33820577	33820577	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:33820577G>A	ENST00000257118.5	-	7	1307	c.1254C>T	c.(1252-1254)ggC>ggT	p.G418G	RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000373422.3_Silent_p.G23G|PHC2_ENST00000431992.1_Silent_p.G389G|PHC2_ENST00000419414.2_Silent_p.G418G	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	418					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G418G(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCTGACTGCCGCCAGGCTTGT	0.647																																					p.G418G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1254T	1						.						59.0	62.0	61.0					1																	33820577		2203	4300	6503	33593164	SO:0001819	synonymous_variant	1912	exon7			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1254C>T	1.37:g.33820577G>A			33593164	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	CCDS378.1																																																																																				0.647	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040	
SMIM12	113444	broad.mit.edu	37	1	35321123	35321123	+	3'UTR	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:35321123G>A	ENST00000521580.2	-	0	600				SMIM12_ENST00000456842.1_3'UTR|SMIM12_ENST00000446026.1_3'UTR|SMIM12_ENST00000423898.1_3'UTR	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3	Q96EX1	SIM12_HUMAN	small integral membrane protein 12							integral component of membrane (GO:0016021)		p.A53A(1)									CTGGCCCCTCGGCTGCTGCTG	0.552																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	1						.						60.0	62.0	61.0					1																	35321123		2203	4300	6503	35093710	SO:0001624	3_prime_UTR_variant	113444	.				CCDS53295.1	1p34.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000163866	ENSG00000163866			25154	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 212"""	C1orf212		12477932	Standard	NM_138428		Approved	FLJ90372	uc001byb.3	Q96EX1	OTTHUMG00000004375	ENST00000521580.2:c.*177C>T	1.37:g.35321123G>A			35093710	.	D3DPR5|Q49AP7|Q52LP9|Q8NCB4	Silent	SNP	ENST00000521580.2	37	CCDS53295.1																																																																																				0.552	SMIM12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012715.3	NM_138428	
DLGAP3	58512	broad.mit.edu	37	1	35370481	35370481	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:35370481G>T	ENST00000373347.1	-	3	772	c.504C>A	c.(502-504)agC>agA	p.S168R	DLGAP3_ENST00000235180.4_Missense_Mutation_p.S168R|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	168					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.S168R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCGGATGCGGCTAGGGCTCT	0.667																																					p.S168R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C504A	1						.						21.0	24.0	23.0					1																	35370481		2101	4147	6248	35143068	SO:0001583	missense	58512	exon1			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.504C>A	1.37:g.35370481G>T	ENSP00000362444:p.Ser168Arg		35143068	NM_001080418	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062121	0.55432	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.30182	1.54;1.54	4.57	3.63	0.41609	.	0.098786	0.64402	D	0.000003	T	0.44850	0.1313	L	0.39898	1.24	0.53688	D	0.999973	D	0.71674	0.998	D	0.78314	0.991	T	0.45396	-0.9264	10	0.87932	D	0	-12.4482	13.4552	0.61195	0.0811:0.0:0.9189:0.0	.	168	O95886	DLGP3_HUMAN	R	168	ENSP00000362444:S168R;ENSP00000235180:S168R	ENSP00000235180:S168R	S	-	3	2	DLGAP3	35143068	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.552000	0.23376	2.260000	0.74910	0.448000	0.29417	AGC		0.667	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	
ZMYM6	9204	broad.mit.edu	37	1	35476600	35476600	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:35476600G>A	ENST00000357182.4	-	9	1327	c.1100C>T	c.(1099-1101)gCg>gTg	p.A367V	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367V|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367V	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	367					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.A367V(1)|p.A367E(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)				CAGGGGCACCGCCGAAGAGTT	0.458																																					p.A367V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1100T	1						.						53.0	53.0	53.0					1																	35476600		2203	4300	6503	35249187	SO:0001583	missense	9204	exon9			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.1100C>T	1.37:g.35476600G>A	ENSP00000349708:p.Ala367Val		35249187	NM_007167	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	0.993	-0.693458	0.03303	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.21191	2.02;3.19	5.2	-0.779	0.10973	.	0.649416	0.15854	N	0.241338	T	0.05181	0.0138	N	0.00926	-1.1	0.19575	N	0.999966	B;B;B	0.16166	0.016;0.004;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.42716	-0.9435	10	0.07644	T	0.81	-7.0E-4	10.0213	0.42044	0.749:0.0:0.251:0.0	.	270;367;367	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	V	367	ENSP00000362437:A367V;ENSP00000349708:A367V	ENSP00000349708:A367V	A	-	2	0	ZMYM6	35249187	0.006000	0.16342	0.025000	0.17156	0.615000	0.37417	0.331000	0.19733	-0.009000	0.14296	0.655000	0.94253	GCG		0.458	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	
ZMYM4	9202	broad.mit.edu	37	1	35824813	35824813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:35824813G>T	ENST00000314607.6	+	3	453	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.E125*|ZMYM4-AS1_ENST00000432683.1_RNA	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	125					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.E125*(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)				ATCAGACAATGAAAATGAAAT	0.303																																					p.E125X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G373T	1						.						54.0	52.0	52.0					1																	35824813		2203	4300	6503	35597400	SO:0001587	stop_gained	9202	exon3			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.373G>T	1.37:g.35824813G>T	ENSP00000322915:p.Glu125*		35597400	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067319	0.55539	.	.	ENSG00000146463	ENST00000314607;ENST00000373297;ENST00000441447	.	.	.	5.46	4.54	0.55810	.	0.219130	0.35349	N	0.003279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-9.2429	15.693	0.77469	0.0:0.0:0.8621:0.1379	.	.	.	.	X	125;125;93	.	ENSP00000322915:E125X	E	+	1	0	ZMYM4	35597400	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.778000	0.75043	1.286000	0.44565	0.591000	0.81541	GAA		0.303	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
CLSPN	63967	broad.mit.edu	37	1	36230278	36230278	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:36230278T>G	ENST00000318121.3	-	3	228	c.171A>C	c.(169-171)aaA>aaC	p.K57N	CLSPN_ENST00000251195.5_Missense_Mutation_p.K57N|CLSPN_ENST00000520551.1_Missense_Mutation_p.K57N|CLSPN_ENST00000373220.3_Missense_Mutation_p.K57N	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	57					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.K57N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTTCCTGTTTTTCAACTTCT	0.383																																					p.K57N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A171C	1						.						60.0	58.0	59.0					1																	36230278		2203	4299	6502	36002865	SO:0001583	missense	63967	exon3			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.171A>C	1.37:g.36230278T>G	ENSP00000312995:p.Lys57Asn		36002865	NM_001190481	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700368	0.68501	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.37752	1.31;1.33;1.18;1.26	6.03	4.91	0.64330	.	0.050385	0.85682	D	0.000000	T	0.46464	0.1394	L	0.36672	1.1	0.33669	D	0.610678	D;D	0.89917	0.985;1.0	P;D	0.87578	0.847;0.998	T	0.60255	-0.7299	10	0.72032	D	0.01	-15.2987	7.8904	0.29675	0.0:0.1048:0.0:0.8952	.	57;57	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	N	57	ENSP00000251195:K57N;ENSP00000312995:K57N;ENSP00000362317:K57N;ENSP00000428848:K57N	ENSP00000251195:K57N	K	-	3	2	CLSPN	36002865	0.993000	0.37304	0.998000	0.56505	0.923000	0.55619	1.757000	0.38400	1.116000	0.41820	0.533000	0.62120	AAA		0.383	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	
AGO4	192670	broad.mit.edu	37	1	36282548	36282548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:36282548C>T	ENST00000373210.3	+	2	330	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	29					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)|mRNA catabolic process (GO:0006402)|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)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.R29*(2)									AAAACCAATTCGACTGTTAGC	0.433																																					p.R29X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C85T	1						.						132.0	133.0	133.0					1																	36282548		2203	4300	6503	36055135	SO:0001587	stop_gained	192670	exon2			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.85C>T	1.37:g.36282548C>T	ENSP00000362306:p.Arg29*		36055135	NM_017629	A7MD27	Nonsense_Mutation	SNP	ENST00000373210.3	37	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398531	0.97533	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.35	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-8.9217	12.9217	0.58237	0.295:0.705:0.0:0.0	.	.	.	.	X	29	.	ENSP00000362306:R29X	R	+	1	2	EIF2C4	36055135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.009000	0.29886	1.206000	0.43276	0.655000	0.94253	CGA		0.433	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629	
AGO1	26523	broad.mit.edu	37	1	36358783	36358783	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:36358783G>A	ENST00000373204.4	+	4	629	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	AGO1_ENST00000373206.1_Missense_Mutation_p.R64Q	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	139					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)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R139Q(2)									GTGAGCTGGCGAATGCTGCAT	0.557																																					p.R139Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G416A	1						.						107.0	94.0	99.0					1																	36358783		2203	4300	6503	36131370	SO:0001583	missense	26523	exon4			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.416G>A	1.37:g.36358783G>A	ENSP00000362300:p.Arg139Gln		36131370	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442479	0.25987	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.09445	3.0;2.98	5.63	5.63	0.86233	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.04770	0.0129	N	0.01134	-0.995	0.54753	D	0.999983	B	0.10296	0.003	B	0.06405	0.002	T	0.50874	-0.8776	10	0.21540	T	0.41	-13.2524	19.6727	0.95916	0.0:0.0:1.0:0.0	.	139	Q9UL18	AGO1_HUMAN	Q	64;139	ENSP00000362302:R64Q;ENSP00000362300:R139Q	ENSP00000362300:R139Q	R	+	2	0	EIF2C1	36131370	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.820000	0.69250	2.656000	0.90262	0.591000	0.81541	CGA		0.557	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
MTF1	4520	broad.mit.edu	37	1	38304324	38304324	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:38304324C>T	ENST00000373036.4	-	4	892	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R251Q(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTATGAGTTCGAATGTGCTT	0.438																																					p.R251Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752A	1						.						161.0	137.0	145.0					1																	38304324		2203	4300	6503	38076911	SO:0001583	missense	4520	exon4			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.752G>A	1.37:g.38304324C>T	ENSP00000362127:p.Arg251Gln		38076911	NM_005955	B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	36	5.746101	0.96882	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.24723	1.84	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.70903	2.155	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.55438	-0.8141	10	0.72032	D	0.01	.	19.1431	0.93452	0.0:1.0:0.0:0.0	.	251	Q14872	MTF1_HUMAN	Q	251;119	ENSP00000362127:R251Q	ENSP00000362127:R251Q	R	-	2	0	MTF1	38076911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.590000	0.87494	0.563000	0.77884	CGA		0.438	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955	
MACF1	23499	broad.mit.edu	37	1	39799953	39799953	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:39799953C>A	ENST00000372915.3	+	36	7795	c.7708C>A	c.(7708-7710)Ctt>Att	p.L2570I	MACF1_ENST00000567887.1_Missense_Mutation_p.L2602I|MACF1_ENST00000289893.4_Missense_Mutation_p.L1005I|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.L2565I|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2570					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.L1005I(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)			AAAATTAGATCTTATTACCTC	0.393																																					p.L1005I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3013A	1						.						55.0	60.0	58.0					1																	39799953		2203	4300	6503	39572540	SO:0001583	missense	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.7708C>A	1.37:g.39799953C>A	ENSP00000362006:p.Leu2570Ile		39572540	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	9.430	1.085240	0.20390	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71461	-0.57;-0.57	5.57	5.57	0.84162	.	0.000000	0.51477	D	0.000099	T	0.61578	0.2358	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	B	0.40636	0.335	T	0.65952	-0.6043	10	0.49607	T	0.09	.	15.8923	0.79309	0.1357:0.8643:0.0:0.0	.	2570	Q9UPN3	MACF1_HUMAN	I	2570;1005	ENSP00000362006:L2570I;ENSP00000289893:L1005I	ENSP00000289893:L1005I	L	+	1	0	MACF1	39572540	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	2.911000	0.48774	2.610000	0.88304	0.561000	0.74099	CTT		0.393	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39800847	39800847	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:39800847G>T	ENST00000372915.3	+	36	8689	c.8602G>T	c.(8602-8604)Gaa>Taa	p.E2868*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.E2900*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E1303*|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E2863*|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2868					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.E1303*(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)			AGATGCTAAAGAATTTATCAG	0.373																																					p.E1303X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3907T	1						.						64.0	69.0	67.0					1																	39800847		2200	4298	6498	39573434	SO:0001587	stop_gained	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.8602G>T	1.37:g.39800847G>T	ENSP00000362006:p.Glu2868*		39573434	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	41	8.689782	0.98916	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	.	.	.	5.64	4.69	0.59074	.	1.124900	0.06690	N	0.769543	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	11.9953	0.53198	0.0:0.0:0.8282:0.1718	.	.	.	.	X	2868;1303	.	ENSP00000289893:E1303X	E	+	1	0	MACF1	39573434	0.002000	0.14202	0.009000	0.14445	0.015000	0.08874	1.233000	0.32648	2.665000	0.90641	0.591000	0.81541	GAA		0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
PABPC4	8761	broad.mit.edu	37	1	40031012	40031012	+	Missense_Mutation	SNP	G	G	T	rs546016694		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:40031012G>T	ENST00000372857.3	-	8	1803	c.1011C>A	c.(1009-1011)ttC>ttA	p.F337L	SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.F337L|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.F337L|PABPC4_ENST00000372862.3_Missense_Mutation_p.F337L	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	337	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.F337L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAAGCAGACGAAGCCAAACC	0.498																																					p.F337L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1011A	1						.						74.0	70.0	72.0					1																	40031012		2203	4300	6503	39803599	SO:0001583	missense	8761	exon8			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1011C>A	1.37:g.40031012G>T	ENSP00000361948:p.Phe337Leu		39803599	NM_001135653	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.467563|4.467563	0.84533|0.84533	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856|ENST00000421687;ENST00000527718	T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54|.	6.16|6.16	-7.28|-7.28	0.01456|0.01456	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82591|.	0.5070|.	M|M	0.93462|0.93462	3.42|3.42	0.42947|0.42947	D|D	0.994365|0.994365	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.85130|.	0.997;0.984;0.996|.	D|.	0.87313|.	0.2313|.	10|.	0.87932|.	D|.	0|.	.|.	17.5051|17.5051	0.87742|0.87742	0.4474:0.0:0.5526:0.0|0.4474:0.0:0.5526:0.0	.|.	337;337;337|.	Q13310;Q13310-2;Q4VC03|.	PABP4_HUMAN;.;.|.	L|X	337|239;64	ENSP00000361953:F337L;ENSP00000361949:F337L;ENSP00000361948:F337L;ENSP00000361947:F337L|.	ENSP00000361947:F337L|.	F|S	-|-	3|2	2|0	PABPC4|PABPC4	39803599|39803599	0.315000|0.315000	0.24571|0.24571	0.706000|0.706000	0.30403|0.30403	0.983000|0.983000	0.72400|0.72400	-0.141000|-0.141000	0.10327|0.10327	-1.478000|-1.478000	0.01869|0.01869	-0.827000|-0.827000	0.03088|0.03088	TTC|TCG		0.498	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653	
RLF	6018	broad.mit.edu	37	1	40656454	40656454	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:40656454G>A	ENST00000372771.4	+	3	430	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	135					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.E135K(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)			GAGTTGTTTCGAATTACTGCT	0.323																																					p.E135K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G403A	1						.						116.0	110.0	112.0					1																	40656454		2203	4300	6503	40429041	SO:0001583	missense	6018	exon3				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.403G>A	1.37:g.40656454G>A	ENSP00000361857:p.Glu135Lys		40429041	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959554	0.92791	.	.	ENSG00000117000	ENST00000372771	T	0.23552	1.9	5.21	5.21	0.72293	.	0.098161	0.64402	D	0.000002	T	0.52273	0.1724	M	0.75264	2.295	0.46279	D	0.998968	D	0.76494	0.999	D	0.73380	0.98	T	0.56535	-0.7963	10	0.87932	D	0	-8.0009	17.0145	0.86414	0.0:0.0:1.0:0.0	.	135	Q13129	RLF_HUMAN	K	135	ENSP00000361857:E135K	ENSP00000361857:E135K	E	+	1	0	RLF	40429041	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.736000	0.84948	2.432000	0.82394	0.558000	0.71614	GAA		0.323	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
COL9A2	1298	broad.mit.edu	37	1	40777742	40777742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:40777742G>A	ENST00000372748.3	-	8	502	c.406C>T	c.(406-408)Cga>Tga	p.R136*		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	136	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	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)	p.R136*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	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;2.08e-17)			TTGGGGCCTCGGATTCCAATC	0.602																																					p.R136X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C406T	1						.						37.0	38.0	38.0					1																	40777742		2202	4300	6502	40550329	SO:0001587	stop_gained	1298	exon8			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.406C>T	1.37:g.40777742G>A	ENSP00000361834:p.Arg136*		40550329	NM_001852	B2RMP9	Nonsense_Mutation	SNP	ENST00000372748.3	37	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.8|22.8	4.334482|4.334482	0.81801|0.81801	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000417105|ENST00000372748;ENST00000372736	.|.	.|.	.|.	5.5|5.5	2.39|2.39	0.29439|0.29439	.|.	.|0.522436	.|0.20538	.|N	.|0.090375	T|.	0.46983|.	0.1421|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51779|.	-0.8662|.	3|.	.|0.19147	.|T	.|0.46	.|.	11.3819|11.3819	0.49763|0.49763	0.0:0.0:0.387:0.6129|0.0:0.0:0.387:0.6129	.|.	.|.	.|.	.|.	L|X	124|136;65	.|.	.|ENSP00000361821:R65X	P|R	-|-	2|1	0|2	COL9A2|COL9A2	40550329|40550329	0.828000|0.828000	0.29307|0.29307	0.822000|0.822000	0.32727|0.32727	0.966000|0.966000	0.64601|0.64601	1.503000|1.503000	0.35715|0.35715	0.178000|0.178000	0.19917|0.19917	-0.169000|-0.169000	0.13324|0.13324	CCG|CGA		0.602	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	
ZFP69B	65243	broad.mit.edu	37	1	40928480	40928480	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:40928480A>C	ENST00000411995.2	+	6	1199	c.824A>C	c.(823-825)aAa>aCa	p.K275T	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.K173T|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	275					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.K173T(1)									AGTTATACAAAAATGAAAACC	0.338																																					p.K275T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A824C	1						.						42.0	46.0	45.0					1																	40928480		2202	4298	6500	40701067	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.824A>C	1.37:g.40928480A>C	ENSP00000399664:p.Lys275Thr		40701067	NM_023070	Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	9.793	1.178347	0.21787	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.12361	2.69;2.69	3.23	-1.03	0.10102	.	.	.	.	.	T	0.10252	0.0251	N	0.20530	0.585	0.21499	N	0.999664	B	0.33318	0.408	B	0.39617	0.305	T	0.37686	-0.9695	9	0.72032	D	0.01	.	7.636	0.28267	0.4012:0.0:0.5988:0.0	.	275	Q9UJL9	ZN643_HUMAN	T	206;275;173	ENSP00000399664:K275T;ENSP00000354547:K173T	ENSP00000354547:K173T	K	+	2	0	ZNF643	40701067	0.533000	0.26354	0.002000	0.10522	0.840000	0.47671	2.344000	0.44010	-0.200000	0.10300	0.477000	0.44152	AAA		0.338	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070	
RIMS3	9783	broad.mit.edu	37	1	41098748	41098748	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:41098748T>C	ENST00000372684.3	-	5	934	c.465A>G	c.(463-465)ccA>ccG	p.P155P	RIMS3_ENST00000372683.1_Silent_p.P155P	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	155					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.P155P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CACCCATGGGTGGTGTTGCCA	0.582																																					p.P155P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A465G	1						.						156.0	140.0	146.0					1																	41098748		2203	4300	6503	40871335	SO:0001819	synonymous_variant	9783	exon5			BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.465A>G	1.37:g.41098748T>C			40871335	NM_014747	D3DPV8|Q92511|X5D7U7	Silent	SNP	ENST00000372684.3	37	CCDS30687.1																																																																																				0.582	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747	
FOXJ3	22887	broad.mit.edu	37	1	42657168	42657168	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:42657168C>T	ENST00000372572.1	-	11	1468	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	FOXJ3_ENST00000361776.1_Missense_Mutation_p.R352Q|FOXJ3_ENST00000545068.1_Missense_Mutation_p.R386Q|FOXJ3_ENST00000361346.1_Missense_Mutation_p.R386Q|FOXJ3_ENST00000372573.1_Missense_Mutation_p.R386Q|FOXJ3_ENST00000372571.1_5'Flank	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	386					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R386Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCATGCGGTCGATGGGGAGG	0.607																																					p.R386Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	1						.						418.0	330.0	360.0					1																	42657168		2203	4300	6503	42429755	SO:0001583	missense	22887	exon11			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1157G>A	1.37:g.42657168C>T	ENSP00000361653:p.Arg386Gln		42429755	NM_001198851	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404966	0.62288	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.31	5.31	0.75309	.	0.847375	0.09555	U	0.786363	T	0.19046	0.0457	N	0.08118	0	0.33516	D	0.591785	P;P	0.45672	0.864;0.787	B;B	0.30316	0.114;0.053	T	0.04115	-1.0976	10	0.15499	T	0.54	.	11.8657	0.52493	0.1746:0.8254:0.0:0.0	.	352;386	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	Q	386;386;386;352;386;352	ENSP00000361654:R386Q;ENSP00000361653:R386Q;ENSP00000354620:R386Q;ENSP00000354449:R352Q;ENSP00000439044:R386Q;ENSP00000393408:R352Q	ENSP00000354620:R386Q	R	-	2	0	FOXJ3	42429755	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.511000	0.35801	2.646000	0.89796	0.555000	0.69702	CGA		0.607	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947	
CFAP57	149465	broad.mit.edu	37	1	43675705	43675705	+	Intron	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:43675705C>A	ENST00000372492.4	+	11	2253				WDR65_ENST00000528956.1_Missense_Mutation_p.H683N	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN										p.H683N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTATTCATCCATCATTCATT	0.403																																					p.H683N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2047A	1						.						193.0	183.0	186.0					1																	43675705		2203	4300	6503	43448292	SO:0001627	intron_variant	149465	exon11																														ENST00000372492.4:c.1929+118C>A	1.37:g.43675705C>A			43448292	NM_001167966	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		.	.	.	.	.	.	.	.	.	.	c	8.672	0.903077	0.17760	.	.	ENSG00000243710	ENST00000528956	T	0.36699	1.24	2.5	-4.59	0.03400	.	5.035880	0.00531	N	0.000202	T	0.19644	0.0472	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08472	-1.0720	8	.	.	.	.	4.4592	0.11657	0.1746:0.2111:0.0:0.6142	.	683	Q96MR6-2	.	N	683	ENSP00000435310:H683N	.	H	+	1	0	WDR65	43448292	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.237000	0.08990	-1.283000	0.02393	-0.157000	0.13467	CAT		0.403	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
TIE1	7075	broad.mit.edu	37	1	43777461	43777461	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:43777461C>T	ENST00000372476.3	+	10	1532	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	TIE1_ENST00000433781.2_Missense_Mutation_p.R130W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	485	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R485W(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGCACTACCGGCCCCAGGA	0.607																																					p.R485W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1453T	1						.						63.0	58.0	60.0					1																	43777461		2203	4300	6503	43550048	SO:0001583	missense	7075	exon10			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1453C>T	1.37:g.43777461C>T	ENSP00000361554:p.Arg485Trp		43550048	NM_005424	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864635	0.71949	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.58652	0.32;0.32	5.17	4.25	0.50352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.33572	N	0.004771	T	0.72479	0.3465	M	0.71206	2.165	0.35701	D	0.815657	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;1.0	P;D;D;P;D	0.72338	0.731;0.935;0.977;0.867;0.965	T	0.79688	-0.1699	10	0.52906	T	0.07	.	12.3026	0.54882	0.4695:0.5305:0.0:0.0	.	130;440;485;130;485	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	W	485;130	ENSP00000361554:R485W;ENSP00000411728:R130W	ENSP00000361554:R485W	R	+	1	2	TIE1	43550048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.855000	0.55957	1.168000	0.42723	0.563000	0.77884	CGG		0.607	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
MPL	4352	broad.mit.edu	37	1	43805051	43805051	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:43805051C>T	ENST00000372470.3	+	4	543	c.501C>T	c.(499-501)taC>taT	p.Y167Y	MPL_ENST00000413998.2_Silent_p.Y167Y	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	167					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.Y167Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TCCTGAGGTACGAACTCCGCT	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														p.Y167Y	NSCLC(52;534 1204 10016 41452 44427)	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	1						.						76.0	69.0	72.0					1																	43805051		2203	4300	6503	43577638	SO:0001819	synonymous_variant	4352	exon4			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.501C>T	1.37:g.43805051C>T			43577638	NM_005373	Q5JUZ0	Silent	SNP	ENST00000372470.3	37	CCDS483.1																																																																																				0.582	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	
PTPRF	5792	broad.mit.edu	37	1	44044512	44044512	+	Silent	SNP	C	C	T	rs571441042		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:44044512C>T	ENST00000359947.4	+	7	940	c.600C>T	c.(598-600)tcC>tcT	p.S200S	PTPRF_ENST00000372414.3_Silent_p.S200S|PTPRF_ENST00000438120.1_Silent_p.S200S|PTPRF_ENST00000372413.3_Silent_p.S200S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	200	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S190S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGAGGAATCCGACCAAGGCA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		23199	0.0		0.0	False		,,,				2504	0.001				p.S200S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C600T	1						.						221.0	143.0	170.0					1																	44044512		2203	4300	6503	43817099	SO:0001819	synonymous_variant	5792	exon7			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.600C>T	1.37:g.44044512C>T			43817099	NM_130440	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2																																																																																				0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
IPO13	9670	broad.mit.edu	37	1	44432626	44432626	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:44432626G>T	ENST00000372343.3	+	18	3210	c.2548G>T	c.(2548-2550)Gaa>Taa	p.E850*	IPO13_ENST00000372339.3_Nonsense_Mutation_p.E68*	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	850					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E850*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCGGTGTGGGGAAGTAGAGTC	0.597																																					p.E850X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2548T	1						.						88.0	87.0	87.0					1																	44432626		2203	4300	6503	44205213	SO:0001587	stop_gained	9670	exon18			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2548G>T	1.37:g.44432626G>T	ENSP00000361418:p.Glu850*		44205213	NM_014652	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Nonsense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	45	11.709496	0.99594	.	.	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.49	4.49	0.54785	.	0.059932	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-19.1206	13.8307	0.63380	0.0:0.0:0.8465:0.1535	.	.	.	.	X	850;68	.	ENSP00000361414:E68X	E	+	1	0	IPO13	44205213	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.552000	0.82192	2.036000	0.60181	0.410000	0.27636	GAA		0.597	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652	
ATP6V0B	533	broad.mit.edu	37	1	44441774	44441774	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:44441774G>A	ENST00000472174.2	+	3	522	c.129G>A	c.(127-129)gaG>gaA	p.E43E	ATP6V0B_ENST00000236067.4_5'UTR|ATP6V0B_ENST00000532642.1_Silent_p.E43E|ATP6V0B_ENST00000471859.2_Silent_p.E90E|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000498664.1_5'UTR	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	43					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)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)	p.E43E(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TCCTGACGGAGACTTCGCCCT	0.567																																					p.E43E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G129A	1						.						153.0	133.0	140.0					1																	44441774		2203	4300	6503	44214361	SO:0001819	synonymous_variant	533	exon3			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.129G>A	1.37:g.44441774G>A			44214361	NM_004047	D3DPY5|Q6IB32	Silent	SNP	ENST00000472174.2	37	CCDS505.1																																																																																				0.567	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047	
PIK3R3	8503	broad.mit.edu	37	1	46509357	46509357	+	Silent	SNP	C	C	T	rs375402560		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:46509357C>T	ENST00000262741.5	-	10	2063	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	PIK3R3_ENST00000540385.1_Silent_p.S504S|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Silent_p.S399S|PIK3R3_ENST00000423209.1_Silent_p.S399S|PIK3R3_ENST00000420542.1_Silent_p.S458S|PIK3R3_ENST00000340332.6_Silent_p.S363S|PIK3R3_ENST00000372006.1_Silent_p.S458S	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	458					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)	p.S458S(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	ATCTGCAAAGCGAGGGCATCT	0.468																																					p.S458S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1374A	1						.	C	,	1,4405	2.1+/-5.4	0,1,2202	142.0	127.0	132.0		1374,1374	-8.6	0.5	1		132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PIK3R3	NM_001114172.1,NM_003629.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	458/462,458/462	46509357	1,13005	2203	4300	6503	46281944	SO:0001819	synonymous_variant	8503	exon10			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1374G>A	1.37:g.46509357C>T			46281944	NM_003629	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Silent	SNP	ENST00000262741.5	37	CCDS529.1																																																																																				0.468	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629	
CYP4B1	1580	broad.mit.edu	37	1	47280907	47280907	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:47280907G>T	ENST00000271153.4	+	8	1077	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	CYP4B1_ENST00000452782.2_Missense_Mutation_p.E185D|CYP4B1_ENST00000371919.4_Missense_Mutation_p.E333D|CYP4B1_ENST00000371923.4_Missense_Mutation_p.E348D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	347					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.E347D(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)	AGGTCCGCGAGATCCTAGGGG	0.582																																					p.E348D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1044T	1						.						94.0	81.0	85.0					1																	47280907		2203	4300	6503	47053494	SO:0001583	missense	1580	exon8			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.1041G>T	1.37:g.47280907G>T	ENSP00000271153:p.Glu347Asp		47053494	NM_001099772	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	g	3.381	-0.126411	0.06795	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.85	0.417	0.16421	.	0.299728	0.36519	N	0.002557	T	0.50786	0.1636	L	0.41710	1.295	0.09310	N	1	B;B;B	0.17465	0.022;0.0;0.001	B;B;B	0.24269	0.052;0.008;0.013	T	0.13710	-1.0499	10	0.15499	T	0.54	.	1.7341	0.02938	0.1784:0.1551:0.3834:0.2831	.	333;348;347	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	D	348;347;333;185;184	ENSP00000360991:E348D;ENSP00000271153:E347D;ENSP00000360987:E333D;ENSP00000400413:E185D;ENSP00000437670:E184D	ENSP00000271153:E347D	E	+	3	2	CYP4B1	47053494	0.632000	0.27172	0.809000	0.32408	0.050000	0.14768	0.161000	0.16481	0.367000	0.24454	0.643000	0.83706	GAG		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
CMPK1	51727	broad.mit.edu	37	1	47838753	47838753	+	Missense_Mutation	SNP	G	G	A	rs374502290		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:47838753G>A	ENST00000371873.5	+	3	594	c.445G>A	c.(445-447)Gtt>Att	p.V149I	CMPK1_ENST00000450808.2_Missense_Mutation_p.V100I	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic									p.V149I(1)		endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						TGTATCTTTCGTTCTCTTTTT	0.358																																					p.V100I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G298A	1						.	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	144.0	126.0	132.0		298,445	4.3	1.0	1		132	0,8600		0,0,4300	no	missense,missense	CMPK1	NM_001136140.1,NM_016308.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	100/180,149/229	47838753	1,13005	2203	4300	6503	47611340	SO:0001583	missense	51727	exon2			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.445G>A	1.37:g.47838753G>A	ENSP00000360939:p.Val149Ile		47611340	NM_001136140		Missense_Mutation	SNP	ENST00000371873.5	37	CCDS549.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325647	0.60743	2.27E-4	0.0	ENSG00000162368	ENST00000371873;ENST00000450808	T;T	0.80566	-1.39;-1.39	5.45	4.34	0.51931	.	0.053131	0.85682	D	0.000000	T	0.79816	0.4511	M	0.71581	2.175	0.80722	D	1	B;B	0.25667	0.104;0.131	B;B	0.25884	0.064;0.024	T	0.80084	-0.1530	10	0.59425	D	0.04	-20.9764	15.0925	0.72207	0.0801:0.0:0.9199:0.0	.	100;149	E9PGI8;B2R6S5	.;.	I	149;100	ENSP00000360939:V149I;ENSP00000398192:V100I	ENSP00000360937:V149I	V	+	1	0	CMPK1	47611340	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.594000	0.82698	2.523000	0.85059	0.563000	0.77884	GTT		0.358	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308	
AGBL4	84871	broad.mit.edu	37	1	49119053	49119053	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:49119053G>A	ENST00000371839.1	-	8	911	c.795C>T	c.(793-795)atC>atT	p.I265I	AGBL4_ENST00000334103.7_5'UTR|AGBL4_ENST00000371838.1_Silent_p.I265I	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	265					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.I265I(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)		GCATTGGTGCGATCTTGAAGA	0.473																																					p.I265I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	1						.						54.0	51.0	52.0					1																	49119053		1890	4114	6004	48891640	SO:0001819	synonymous_variant	84871	exon8			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.795C>T	1.37:g.49119053G>A			48891640	NM_032785	B3KT26|B4DG37	Silent	SNP	ENST00000371839.1	37	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	9.809	1.182725	0.21870	.	.	ENSG00000186094	ENST00000416121;ENST00000432500	.	.	.	5.84	-3.7	0.04437	.	.	.	.	.	T	0.50854	0.1640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47983	-0.9074	4	.	.	.	-31.5943	8.0521	0.30583	0.5116:0.0:0.3875:0.1009	.	.	.	.	L	111;54	.	.	S	-	2	0	AGBL4	48891640	0.997000	0.39634	0.973000	0.42090	0.916000	0.54674	0.575000	0.23729	-0.712000	0.04988	-1.631000	0.00782	TCG		0.473	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785	
EPS15	2060	broad.mit.edu	37	1	51868131	51868131	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:51868131A>C	ENST00000371733.3	-	18	1954	c.1858T>G	c.(1858-1860)Ttc>Gtc	p.F620V	EPS15_ENST00000493793.1_5'Flank|EPS15_ENST00000371730.2_Missense_Mutation_p.F486V|EPS15_ENST00000396122.4_Missense_Mutation_p.F297V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	620	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.F620V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TCAGACTGGAAAAAATCCAAG	0.279			T	MLL	ALL																																p.F306V			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	thyroid(1)|large_intestine(1)|central_nervous_system(1)	c.T916G	1						.						61.0	65.0	64.0					1																	51868131		2203	4298	6501	51640719	SO:0001583	missense	2060	exon6			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1858T>G	1.37:g.51868131A>C	ENSP00000360798:p.Phe620Val		51640719	NM_001159969	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013632	0.54468	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.18810	2.19;2.19;2.19	5.96	5.96	0.96718	.	.	.	.	.	T	0.46190	0.1380	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.91635	0.968;0.999;0.997	T	0.40515	-0.9559	9	0.12766	T	0.61	.	16.4221	0.83766	1.0:0.0:0.0:0.0	.	486;620;306	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	V	486;620;297	ENSP00000360795:F486V;ENSP00000360798:F620V;ENSP00000379428:F297V	ENSP00000360795:F486V	F	-	1	0	EPS15	51640719	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.584000	0.82572	2.283000	0.76528	0.477000	0.44152	TTC		0.279	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	
RAB3B	5865	broad.mit.edu	37	1	52442586	52442586	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:52442586C>A	ENST00000371655.3	-	2	416	c.204G>T	c.(202-204)gaG>gaT	p.E68D		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	68					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.E68D(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TCACCCGCTTCTCGTGACGGT	0.572																																					p.E68D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G204T	1						.						113.0	93.0	100.0					1																	52442586		2203	4300	6503	52215174	SO:0001583	missense	5865	exon2			BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.204G>T	1.37:g.52442586C>A	ENSP00000360718:p.Glu68Asp		52215174	NM_002867	Q5VUL2|Q9BSI1	Missense_Mutation	SNP	ENST00000371655.3	37	CCDS560.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586449	0.28268	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	T	0.78364	-1.17	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.050502	0.85682	D	0.000000	T	0.56688	0.2002	N	0.04387	-0.21	0.48135	D	0.999599	B	0.02656	0.0	B	0.04013	0.001	T	0.53479	-0.8433	10	0.21540	T	0.41	.	13.5724	0.61853	0.0:0.7254:0.2745:0.0	.	68	P20337	RAB3B_HUMAN	D	68	ENSP00000360718:E68D	ENSP00000360718:E68D	E	-	3	2	RAB3B	52215174	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.056000	0.41355	2.865000	0.98341	0.655000	0.94253	GAG		0.572	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	NM_002867	
ZFYVE9	9372	broad.mit.edu	37	1	52729497	52729497	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:52729497G>A	ENST00000371591.1	+	4	2362	c.2231G>A	c.(2230-2232)aGa>aAa	p.R744K	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.R744K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R744K	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	744					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.R744K(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TACATGGACAGAAAGGAAGCT	0.413																																					p.R744K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2231A	1						.						87.0	85.0	85.0					1																	52729497		2202	4300	6502	52502085	SO:0001583	missense	9372	exon5			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2231G>A	1.37:g.52729497G>A	ENSP00000360647:p.Arg744Lys		52502085	NM_007324	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718741	0.48622	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.17	3.3	0.37823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.313903	0.29073	N	0.013235	T	0.53981	0.1830	N	0.21373	0.66	0.33633	D	0.606297	B;B;B	0.25007	0.06;0.116;0.054	B;B;B	0.30251	0.113;0.057;0.026	T	0.56183	-0.8021	10	0.22109	T	0.4	.	8.9621	0.35854	0.2252:0.0:0.7748:0.0	.	744;744;744	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	K	744	ENSP00000349737:R744K;ENSP00000355358:R744K;ENSP00000287727:R744K;ENSP00000360647:R744K	ENSP00000287727:R744K	R	+	2	0	ZFYVE9	52502085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.268000	0.51585	0.759000	0.33084	0.655000	0.94253	AGA		0.413	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
ORC1	4998	broad.mit.edu	37	1	52840566	52840566	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:52840566A>C	ENST00000371568.3	-	16	2525	c.2307T>G	c.(2305-2307)aaT>aaG	p.N769K	ORC1_ENST00000371566.1_Missense_Mutation_p.N769K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	769	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N769K(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAACAGAGGAATTTCTTAAAG	0.478																																					p.N769K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2307G	1						.						59.0	58.0	58.0					1																	52840566		2203	4300	6503	52613154	SO:0001583	missense	4998	exon16				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2307T>G	1.37:g.52840566A>C	ENSP00000360623:p.Asn769Lys		52613154	NM_001190818	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946455	0.53186	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.41758	0.99;0.99	5.96	-0.268	0.12934	.	0.185262	0.64402	D	0.000019	T	0.41166	0.1147	M	0.64404	1.975	0.46317	D	0.998983	P;P	0.46859	0.885;0.885	P;P	0.44732	0.459;0.459	T	0.39187	-0.9626	10	0.46703	T	0.11	-13.2219	11.8457	0.52383	0.4654:0.0:0.5346:0.0	.	764;769	B7Z8H0;Q13415	.;ORC1_HUMAN	K	769	ENSP00000360623:N769K;ENSP00000360621:N769K	ENSP00000360621:N769K	N	-	3	2	ORC1	52613154	0.999000	0.42202	0.954000	0.39281	0.696000	0.40369	0.800000	0.27042	-0.063000	0.13065	-0.408000	0.06270	AAT		0.478	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	
SCP2	6342	broad.mit.edu	37	1	53516286	53516286	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:53516286C>A	ENST00000528311.1	+	15	1607	c.1311C>A	c.(1309-1311)ttC>ttA	p.F437L	SCP2_ENST00000435345.2_Missense_Mutation_p.F114L|SCP2_ENST00000371509.4_Missense_Mutation_p.F474L|SCP2_ENST00000430330.2_Missense_Mutation_p.F111L|SCP2_ENST00000371514.3_Missense_Mutation_p.F518L|SCP2_ENST00000407246.2_Missense_Mutation_p.F494L|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000408941.3_3'UTR	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					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.F518L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CACAGGCCTTCTTTCAAGGCA	0.383																																					p.F437L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1311A	1						.						109.0	108.0	108.0					1																	53516286		2203	4300	6503	53288874	SO:0001583	missense	6342	exon15			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1311C>A	1.37:g.53516286C>A	ENSP00000434132:p.Phe437Leu		53288874	NM_001193617	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971734	0.74246	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.76	4.85	0.62838	SCP2 sterol-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.63880	0.993;0.988;0.988;0.993	D;D;D;D	0.67548	0.952;0.952;0.945;0.952	T	0.60367	-0.7277	10	0.87932	D	0	-9.5537	13.8087	0.63250	0.0:0.9252:0.0:0.0748	.	494;474;111;518	C9JC79;A6NM69;E1B6W5;P22307	.;.;.;NLTP_HUMAN	L	518;437;474;494;111;114	ENSP00000360569:F518L;ENSP00000434132:F437L;ENSP00000360564:F474L;ENSP00000384569:F494L;ENSP00000406636:F111L;ENSP00000396413:F114L	ENSP00000360564:F474L	F	+	3	2	SCP2	53288874	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.036000	0.30228	1.567000	0.49668	0.650000	0.86243	TTC		0.383	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979	
NDC1	55706	broad.mit.edu	37	1	54238156	54238156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:54238156C>T	ENST00000371429.3	-	17	2405	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	SNORA58_ENST00000364133.1_RNA|NDC1_ENST00000234725.8_Missense_Mutation_p.D488N|NDC1_ENST00000537333.1_Missense_Mutation_p.D268N|NDC1_ENST00000540001.1_3'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	603					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.D603N(1)									AAGTACTTGTCGACTGCCTAC	0.428																																					p.D603N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1807A	1						.						98.0	94.0	95.0					1																	54238156		2203	4300	6503	54010744	SO:0001583	missense	55706	exon17			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1807G>A	1.37:g.54238156C>T	ENSP00000360483:p.Asp603Asn		54010744	NM_018087	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241752	0.79912	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.52526	0.66;0.66;0.66	5.35	5.35	0.76521	.	0.047350	0.85682	D	0.000000	T	0.50326	0.1609	M	0.65498	2.005	0.80722	D	1	B;B	0.32302	0.363;0.265	B;B	0.31812	0.088;0.136	T	0.50030	-0.8875	10	0.38643	T	0.18	.	19.0659	0.93110	0.0:1.0:0.0:0.0	.	563;603	B4DHA3;Q9BTX1	.;NDC1_HUMAN	N	603;486;268;488	ENSP00000360483:D603N;ENSP00000439947:D268N;ENSP00000234725:D488N	ENSP00000234725:D488N	D	-	1	0	TMEM48	54010744	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.359000	0.79477	2.522000	0.85027	0.650000	0.86243	GAC		0.428	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087	
USP24	23358	broad.mit.edu	37	1	55614160	55614160	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:55614160T>C	ENST00000294383.6	-	17	1943	c.1944A>G	c.(1942-1944)aaA>aaG	p.K648K	USP24_ENST00000407756.1_Silent_p.K488K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	648					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.K648K(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						GATAGGTTTGTTTTATGAATG	0.338																																					p.K648K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1944G	1						.						92.0	79.0	83.0					1																	55614160		1829	4078	5907	55386748	SO:0001819	synonymous_variant	23358	exon17			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.1944A>G	1.37:g.55614160T>C			55386748	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	CCDS44154.2																																																																																				0.338	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
PRKAA2	5563	broad.mit.edu	37	1	57173271	57173271	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:57173271C>T	ENST00000371244.4	+	9	1610	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	515					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.S515F(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	CTTTCTGGCTCTCTCACTGGC	0.483																																					p.S515F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1544T	1						.						174.0	160.0	165.0					1																	57173271		2203	4300	6503	56945859	SO:0001583	missense	5563	exon9			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.1544C>T	1.37:g.57173271C>T	ENSP00000360290:p.Ser515Phe		56945859	NM_006252	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733929	0.89482	.	.	ENSG00000162409	ENST00000371244	T	0.09350	2.99	5.99	5.99	0.97316	.	0.217294	0.49305	D	0.000143	T	0.27349	0.0671	L	0.48642	1.525	0.80722	D	1	D	0.63880	0.993	D	0.64595	0.927	T	0.00055	-1.2178	10	0.31617	T	0.26	-16.5835	20.4777	0.99188	0.0:1.0:0.0:0.0	.	515	P54646	AAPK2_HUMAN	F	515	ENSP00000360290:S515F	ENSP00000360290:S515F	S	+	2	0	PRKAA2	56945859	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.621000	0.61233	2.840000	0.97914	0.655000	0.94253	TCT		0.483	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
DAB1	1600	broad.mit.edu	37	1	57602300	57602300	+	Silent	SNP	G	G	A	rs146935910		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:57602300G>A	ENST00000371231.1	-	3	256	c.222C>T	c.(220-222)ggC>ggT	p.G74G	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Silent_p.G74G|DAB1_ENST00000420954.2_Silent_p.G74G|DAB1_ENST00000439789.2_Silent_p.G74G|DAB1_ENST00000371236.2_Silent_p.G74G|DAB1_ENST00000371230.1_Silent_p.G74G|DAB1_ENST00000371234.4_Silent_p.G74G			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	74	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.G74G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGAACGAGCGCCAGCAACAA	0.393																																					p.G74G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	71.0	69.0	70.0		222	1.8	1.0	1	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	DAB1	NM_021080.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		74/556	57602300	1,13005	2203	4300	6503	57374888	SO:0001819	synonymous_variant	1600	exon6			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.222C>T	1.37:g.57602300G>A			57374888	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37																																																																																					0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
MYSM1	114803	broad.mit.edu	37	1	59147759	59147759	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:59147759C>T	ENST00000472487.1	-	8	996	c.957G>A	c.(955-957)ttG>ttA	p.L319L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	319					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L319L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AGTTTTTAATCAATTCATTAA	0.348																																					p.L319L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G957A	1						.						116.0	108.0	111.0					1																	59147759		1832	4090	5922	58920347	SO:0001819	synonymous_variant	114803	exon8			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.957G>A	1.37:g.59147759C>T			58920347	NM_001085487	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	ENST00000472487.1	37	CCDS41343.1																																																																																				0.348	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	
HOOK1	51361	broad.mit.edu	37	1	60309127	60309127	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:60309127G>T	ENST00000371208.3	+	9	902	c.645G>T	c.(643-645)aaG>aaT	p.K215N	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.K173N	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	215	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.K215N(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AAGATGAAAAGAATTCACTGG	0.313																																					p.K215N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G645T	1						.						78.0	81.0	80.0					1																	60309127		2203	4300	6503	60081715	SO:0001583	missense	51361	exon9			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.645G>T	1.37:g.60309127G>T	ENSP00000360252:p.Lys215Asn		60081715	NM_015888	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565064	0.65651	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.27402	1.67;1.67	6.17	5.26	0.73747	.	0.044152	0.85682	D	0.000000	T	0.46833	0.1413	L	0.61036	1.89	0.46416	D	0.99903	D	0.71674	0.998	D	0.74674	0.984	T	0.40701	-0.9549	10	0.19147	T	0.46	.	9.5676	0.39409	0.2184:0.0:0.7816:0.0	.	215	Q9UJC3	HOOK1_HUMAN	N	215;173	ENSP00000360252:K215N;ENSP00000378928:K173N	ENSP00000360252:K215N	K	+	3	2	HOOK1	60081715	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.707000	0.25704	1.632000	0.50472	-0.140000	0.14226	AAG		0.313	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
C1orf87	127795	broad.mit.edu	37	1	60505655	60505655	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:60505655G>A	ENST00000371201.3	-	5	788	c.681C>T	c.(679-681)gtC>gtT	p.V227V	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	227							calcium ion binding (GO:0005509)	p.V227V(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACTGTAGAGGGACTTCATGCT	0.423																																					p.V227V	NSCLC(75;811 1386 4923 13371 51772)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681T	1						.						98.0	110.0	106.0					1																	60505655		2203	4300	6503	60278243	SO:0001819	synonymous_variant	127795	exon5			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.681C>T	1.37:g.60505655G>A			60278243	NM_152377	Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	37	CCDS614.1																																																																																				0.423	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	
C1orf87	127795	broad.mit.edu	37	1	60521104	60521104	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:60521104C>T	ENST00000371201.3	-	3	221	c.114G>A	c.(112-114)gaG>gaA	p.E38E	C1orf87_ENST00000450089.2_Silent_p.E38E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	38							calcium ion binding (GO:0005509)	p.E38E(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCTGTCATTCTCCTTGCTGT	0.423																																					p.E38E	NSCLC(75;811 1386 4923 13371 51772)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G114A	1						.						213.0	179.0	191.0					1																	60521104		2203	4300	6503	60293692	SO:0001819	synonymous_variant	127795	exon3			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.114G>A	1.37:g.60521104C>T			60293692	NM_152377	Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	37	CCDS614.1																																																																																				0.423	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	
L1TD1	54596	broad.mit.edu	37	1	62676520	62676520	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:62676520G>A	ENST00000498273.1	+	4	2369	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	692								p.D692N(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						aaggcaaagagatatagagga	0.328																																					p.D692N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2074A	1						.						27.0	26.0	26.0					1																	62676520		1670	3041	4711	62449108	SO:0001583	missense	54596	exon4			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.2074G>A	1.37:g.62676520G>A	ENSP00000419901:p.Asp692Asn		62449108	NM_019079	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625380	0.28889	.	.	ENSG00000240563	ENST00000498273	T	0.14022	2.54	2.86	-0.273	0.12915	.	.	.	.	.	T	0.18130	0.0435	L	0.52573	1.65	0.09310	N	1	D	0.54397	0.966	P	0.55545	0.778	T	0.15037	-1.0451	9	0.66056	D	0.02	.	1.5142	0.02502	0.1314:0.213:0.4372:0.2183	.	692	Q5T7N2	LITD1_HUMAN	N	692	ENSP00000419901:D692N	ENSP00000419901:D692N	D	+	1	0	L1TD1	62449108	0.019000	0.18553	0.003000	0.11579	0.083000	0.17756	-0.035000	0.12205	-0.028000	0.13850	0.305000	0.20034	GAT		0.328	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
ROR1	4919	broad.mit.edu	37	1	64603141	64603141	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:64603141C>A	ENST00000371079.1	+	5	947	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	ROR1_ENST00000371080.1_Missense_Mutation_p.S191Y|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	191	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.S191Y(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TATATGGAGTCTTTGCACATG	0.393																																					p.S191Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C572A	1						.						138.0	134.0	135.0					1																	64603141		2203	4300	6503	64375729	SO:0001583	missense	4919	exon5			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.572C>A	1.37:g.64603141C>A	ENSP00000360120:p.Ser191Tyr		64375729	NM_005012	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984144	0.93044	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.53857	0.6;0.6	6.07	6.07	0.98685	Frizzled domain (2);	0.000000	0.42821	D	0.000650	T	0.65544	0.2701	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.994;0.996	T	0.64943	-0.6288	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	191;191	Q01973;Q66K77	ROR1_HUMAN;.	Y	191;191;194	ENSP00000360121:S191Y;ENSP00000360120:S191Y	ENSP00000360120:S191Y	S	+	2	0	ROR1	64375729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.885000	0.99019	0.655000	0.94253	TCT		0.393	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	
UBE2U	148581	broad.mit.edu	37	1	64672529	64672529	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:64672529T>G	ENST00000371076.3	+	3	475	c.231T>G	c.(229-231)ttT>ttG	p.F77L		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	77					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.F77L(1)		large_intestine(3)|lung(2)|skin(1)	6						CAATTCCGTTTCATCCAAATG	0.289																																					p.F77L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T231G	1						.						45.0	46.0	45.0					1																	64672529		2201	4292	6493	64445117	SO:0001583	missense	148581	exon3			BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.231T>G	1.37:g.64672529T>G	ENSP00000360116:p.Phe77Leu		64445117	NM_152489	Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	CCDS627.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343969	0.61073	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.37584	1.19;1.19	5.87	4.75	0.60458	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000005	T	0.46367	0.1389	M	0.78049	2.395	0.39344	D	0.965635	D	0.89917	1.0	D	0.91635	0.999	T	0.55237	-0.8172	10	0.72032	D	0.01	.	5.4498	0.16556	0.0:0.1426:0.0:0.8574	.	77	Q5VVX9	UBE2U_HUMAN	L	77	ENSP00000360117:F77L;ENSP00000360116:F77L	ENSP00000360116:F77L	F	+	3	2	UBE2U	64445117	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	1.059000	0.30517	2.240000	0.73641	0.482000	0.46254	TTT		0.289	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489	
CACHD1	57685	broad.mit.edu	37	1	65131775	65131775	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:65131775C>A	ENST00000371073.2	+	16	2312	c.2312C>A	c.(2311-2313)tCt>tAt	p.S771Y	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S720Y			Q5VU97	CAHD1_HUMAN	cache domain containing 1	771					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.S720Y(2)		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						GGGTTGATTTCTTTGACTGGT	0.333																																					p.S720Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2159A	1						.						152.0	143.0	146.0					1																	65131775		2203	4300	6503	64904363	SO:0001583	missense	57685	exon16			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.2312C>A	1.37:g.65131775C>A	ENSP00000360113:p.Ser771Tyr		64904363	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.959467	0.74016	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22945	1.93;1.94	5.66	5.66	0.87406	.	0.046152	0.85682	D	0.000000	T	0.13286	0.0322	L	0.27053	0.805	0.58432	D	0.999997	B	0.22480	0.07	B	0.28011	0.085	T	0.05784	-1.0864	10	0.30854	T	0.27	-21.2801	20.1156	0.97930	0.0:1.0:0.0:0.0	.	771	Q5VU97	CAHD1_HUMAN	Y	771;720	ENSP00000360113:S771Y;ENSP00000290039:S720Y	ENSP00000290039:S720Y	S	+	2	0	CACHD1	64904363	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	7.386000	0.79775	2.824000	0.97209	0.655000	0.94253	TCT		0.333	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
PDE4B	5142	broad.mit.edu	37	1	66829220	66829220	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:66829220C>T	ENST00000329654.4	+	12	1437	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	PDE4B_ENST00000371049.3_Missense_Mutation_p.S417L|PDE4B_ENST00000480109.2_Missense_Mutation_p.S184L|PDE4B_ENST00000423207.2_Missense_Mutation_p.S402L|PDE4B_ENST00000371045.5_Missense_Mutation_p.S245L	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	417					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S417L(2)|p.S245L(2)|p.S402L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GTAGCCCAGTCGACCCATGTT	0.443																																					p.S417L												.	.	6	Substitution - Missense(6)	large_intestine(6)	c.C1250T	1						.						94.0	82.0	86.0					1																	66829220		2203	4300	6503	66601808	SO:0001583	missense	5142	exon12			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1250C>T	1.37:g.66829220C>T	ENSP00000332116:p.Ser417Leu		66601808	NM_002600	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225908	0.79576	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.73	5.73	0.89815	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.68317	2.08	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	0.995;0.998;1.0;1.0;1.0	T	0.79990	-0.1570	10	0.87932	D	0	.	19.4912	0.95050	0.0:1.0:0.0:0.0	.	184;402;287;407;417	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	L	417;417;417;402;245;184	ENSP00000332116:S417L;ENSP00000342637:S417L;ENSP00000360088:S417L;ENSP00000392947:S402L;ENSP00000360084:S245L;ENSP00000432592:S184L	ENSP00000332116:S417L	S	+	2	0	PDE4B	66601808	1.000000	0.71417	0.987000	0.45799	0.145000	0.21501	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	TCG		0.443	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600	
IL12RB2	3595	broad.mit.edu	37	1	67855722	67855722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:67855722C>T	ENST00000262345.1	+	15	2597	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	IL12RB2_ENST00000371000.1_Intron|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000541374.1_Intron|IL12RB2_ENST00000544434.1_Missense_Mutation_p.L567F	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	653					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.L653F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGTGTTTGTTCTCCTAGCAGC	0.453																																					p.L653F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1957T	1						.						114.0	112.0	112.0					1																	67855722		2203	4300	6503	67628310	SO:0001583	missense	3595	exon15			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1957C>T	1.37:g.67855722C>T	ENSP00000262345:p.Leu653Phe		67628310	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326428	0.24080	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.47869	0.83;1.74	5.43	3.45	0.39498	.	0.529865	0.21698	N	0.070472	T	0.24774	0.0601	M	0.67953	2.075	0.24714	N	0.993183	B;B	0.09022	0.001;0.002	B;B	0.14023	0.01;0.004	T	0.20706	-1.0267	10	0.31617	T	0.26	-14.6794	10.2194	0.43188	0.1357:0.7836:0.0:0.0807	.	567;653	F5H7L6;Q99665	.;I12R2_HUMAN	F	653;567	ENSP00000262345:L653F;ENSP00000442443:L567F	ENSP00000262345:L653F	L	+	1	0	IL12RB2	67628310	0.326000	0.24669	0.198000	0.23420	0.003000	0.03518	0.475000	0.22164	0.792000	0.33850	-0.797000	0.03246	CTC		0.453	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
RPE65	6121	broad.mit.edu	37	1	68895533	68895533	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:68895533A>C	ENST00000262340.5	-	14	1581	c.1528T>G	c.(1528-1530)Tta>Gta	p.L510V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	510					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.L510V(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACTTCACTTAAGTCCTTGGCA	0.443																																					p.L510V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1528G	1						.						86.0	81.0	83.0					1																	68895533		2203	4300	6503	68668121	SO:0001583	missense	6121	exon14			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.1528T>G	1.37:g.68895533A>C	ENSP00000262340:p.Leu510Val		68668121	NM_000329	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069728	0.55539	.	.	ENSG00000116745	ENST00000262340	D	0.95171	-3.63	5.52	0.299	0.15771	.	0.221411	0.46442	D	0.000291	D	0.88171	0.6365	L	0.52364	1.645	0.48901	D	0.999723	B	0.24882	0.113	B	0.40228	0.323	T	0.81938	-0.0704	10	0.54805	T	0.06	-5.2084	4.1651	0.10303	0.4904:0.0:0.225:0.2846	.	510	Q16518	RPE65_HUMAN	V	510	ENSP00000262340:L510V	ENSP00000262340:L510V	L	-	1	2	RPE65	68668121	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.075000	0.41538	0.093000	0.17368	0.533000	0.62120	TTA		0.443	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
DEPDC1	55635	broad.mit.edu	37	1	68944890	68944890	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:68944890A>G	ENST00000456315.2	-	10	2163	c.2049T>C	c.(2047-2049)ctT>ctC	p.L683L	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Silent_p.L399L	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	683					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.L683L(1)|p.L399L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AGGGTACTTGAAGAATTTCCT	0.368																																					p.L683L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2049C	1						.						113.0	104.0	107.0					1																	68944890		2203	4300	6503	68717478	SO:0001819	synonymous_variant	55635	exon10			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2049T>C	1.37:g.68944890A>G			68717478	NM_001114120	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	CCDS44159.1																																																																																				0.368	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779	
LRRC7	57554	broad.mit.edu	37	1	70478714	70478714	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:70478714C>A	ENST00000035383.5	+	11	1108	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.L365I|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	360						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L360I(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						ATTAGAATTTCTTCCTGAAGA	0.333																																					p.L360I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1078A	1						.						116.0	125.0	122.0					1																	70478714		2203	4298	6501	70251302	SO:0001583	missense	57554	exon11				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.1078C>A	1.37:g.70478714C>A	ENSP00000035383:p.Leu360Ile		70251302	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773789	0.69992	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.57436	0.4;0.4	5.87	5.87	0.94306	.	0.075168	0.53938	D	0.000049	T	0.48277	0.1491	L	0.27053	0.805	0.80722	D	1	D	0.54964	0.969	P	0.55508	0.777	T	0.46693	-0.9173	10	0.49607	T	0.09	.	19.1873	0.93649	0.0:1.0:0.0:0.0	.	360	Q96NW7	LRRC7_HUMAN	I	365;360;183	ENSP00000309245:L365I;ENSP00000035383:L360I	ENSP00000035383:L360I	L	+	1	0	LRRC7	70251302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.645000	0.67909	2.775000	0.95449	0.650000	0.86243	CTT		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70504482	70504482	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:70504482A>G	ENST00000035383.5	+	19	2891	c.2861A>G	c.(2860-2862)gAc>gGc	p.D954G	LRRC7_ENST00000310961.5_Missense_Mutation_p.D959G|LRRC7_ENST00000415775.2_Missense_Mutation_p.D238G	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	954						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D954G(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						GATGAGATTGACATTGGTACA	0.393																																					p.D954G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2861G	1						.						76.0	73.0	74.0					1																	70504482		2203	4300	6503	70277070	SO:0001583	missense	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.2861A>G	1.37:g.70504482A>G	ENSP00000035383:p.Asp954Gly		70277070	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.620421	0.46736	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.50548	0.74;0.82;1.92	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.58101	1.795	0.58432	D	0.999999	D;D;D	0.71674	0.992;0.998;0.978	P;D;P	0.81914	0.908;0.995;0.666	T	0.62324	-0.6878	10	0.66056	D	0.02	.	15.0844	0.72138	1.0:0.0:0.0:0.0	.	238;954;954	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	G	959;954;238;777	ENSP00000309245:D959G;ENSP00000035383:D954G;ENSP00000394867:D238G	ENSP00000035383:D954G	D	+	2	0	LRRC7	70277070	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	8.703000	0.91344	2.169000	0.68431	0.383000	0.25322	GAC		0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
SRSF11	9295	broad.mit.edu	37	1	70715642	70715642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:70715642C>T	ENST00000370950.3	+	11	1112	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	SRSF11_ENST00000405432.1_Nonsense_Mutation_p.R344*|SRSF11_ENST00000370949.1_Nonsense_Mutation_p.R284*|SRSF11_ENST00000370951.1_Nonsense_Mutation_p.R344*|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	344	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.|Poly-Arg.				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)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R344*(1)		large_intestine(3)|ovary(2)|skin(1)	6						TAGAGAGAGACGACGACGAAG	0.403																																					p.R344X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1030T	1						.						81.0	88.0	86.0					1																	70715642		2203	4300	6503	70488230	SO:0001587	stop_gained	9295	exon11			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1030C>T	1.37:g.70715642C>T	ENSP00000359988:p.Arg344*		70488230	NM_004768	Q5T758|Q8IWE6	Nonsense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	C	36	5.685839	0.96784	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	.	.	.	5.45	2.37	0.29283	.	0.103668	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1637	0.65464	0.5862:0.4138:0.0:0.0	.	.	.	.	X	344;344;344;351;284	.	ENSP00000359987:R284X	R	+	1	2	SRSF11	70488230	0.974000	0.33945	0.689000	0.30133	0.841000	0.47740	0.945000	0.29056	0.277000	0.22141	0.655000	0.94253	CGA		0.403	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	
ANKRD13C	81573	broad.mit.edu	37	1	70728529	70728529	+	Splice_Site	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:70728529A>G	ENST00000370944.4	-	13	1810	c.1497T>C	c.(1495-1497)gaT>gaC	p.D499D	ANKRD13C_ENST00000464236.1_Intron|ANKRD13C_ENST00000262346.6_Splice_Site_p.D464D	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	499					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.D499D(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ACACAGGTATATCTACAGAGA	0.353																																					p.D499D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1497C	1						.						86.0	85.0	85.0					1																	70728529		2203	4300	6503	70501117	SO:0001630	splice_region_variant	81573	exon13				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.1496-1T>C	1.37:g.70728529A>G			70501117	NM_030816	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	CCDS648.2																																																																																				0.353	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816	Silent
PTGER3	5733	broad.mit.edu	37	1	71418655	71418655	+	3'UTR	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:71418655C>A	ENST00000414819.1	-	0	1514				PTGER3_ENST00000356595.4_Nonsense_Mutation_p.E398*|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000354608.5_Intron|RP3-333A15.1_ENST00000426775.1_RNA	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.E398*(1)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	ACCTCCATTTCTTCTCTGTTC	0.413																																					p.E398X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1192T	1						.						251.0	229.0	237.0					1																	71418655		2203	4300	6503	71191243	SO:0001624	3_prime_UTR_variant	5733	exon4			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.*111G>T	1.37:g.71418655C>A			71191243	NM_198718	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Nonsense_Mutation	SNP	ENST00000414819.1	37	CCDS656.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181209	0.57800	.	.	ENSG00000050628	ENST00000356595	.	.	.	2.68	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	5.395	0.16265	0.0:0.8407:0.0:0.1593	.	.	.	.	X	398	.	ENSP00000349003:E398X	E	-	1	0	PTGER3	71191243	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	0.221000	0.17680	0.712000	0.32039	0.305000	0.20034	GAA		0.413	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957	
FPGT	8790	broad.mit.edu	37	1	74670818	74670818	+	Missense_Mutation	SNP	G	G	A	rs376392962		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:74670818G>A	ENST00000609362.1	+	4	1124	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.E376K|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370894.5_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	363					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.E363K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGGAACAACCGAAGAATATTT	0.333																																					p.E363K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1087A	1						.	G	,,,,LYS/GLU	0,4406		0,0,2203	49.0	52.0	51.0		,,,,1087	4.0	1.0	1		51	3,8597	3.0+/-9.4	0,3,4297	no	intron,intron,intron,intron,missense	FPGT,FPGT-TNNI3K	NM_001112808.2,NM_001199327.1,NM_001199328.1,NM_001199329.1,NM_003838.3	,,,,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,	,,,,363/595	74670818	3,13003	2203	4300	6503	74443406	SO:0001583	missense	8790	exon4			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1087G>A	1.37:g.74670818G>A	ENSP00000476680:p.Glu363Lys		74443406	NM_003838	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	5.749	0.322582	0.10900	0.0	3.49E-4	ENSG00000254685	ENST00000370898	T	0.30182	1.54	5.91	3.96	0.45880	L-fucokinase (1);	.	.	.	.	T	0.07728	0.0194	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.11372	-1.0590	8	.	.	.	.	14.8251	0.70104	0.0:0.5895:0.4105:0.0	.	363	O14772	FPGT_HUMAN	K	363	ENSP00000359935:E363K	.	E	+	1	0	TNNI3K	74443406	0.622000	0.27085	0.996000	0.52242	0.948000	0.59901	0.957000	0.29215	1.459000	0.47892	0.655000	0.94253	GAA		0.333	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ERICH3	127254	broad.mit.edu	37	1	75037290	75037290	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:75037290C>A	ENST00000326665.5	-	14	4322	c.4104G>T	c.(4102-4104)gaG>gaT	p.E1368D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1368	Glu-rich.							p.E1368D(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						CTATTGTTTTCTCCTCGGCTG	0.517																																					p.E1368D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4104T	1						.						140.0	144.0	143.0					1																	75037290		2203	4300	6503	74809878	SO:0001583	missense	127254	exon14																														ENST00000326665.5:c.4104G>T	1.37:g.75037290C>A	ENSP00000322609:p.Glu1368Asp		74809878	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	1.607	-0.525076	0.04141	.	.	ENSG00000178965	ENST00000326665	T	0.13307	2.6	4.86	1.67	0.24075	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	0.999999	B	0.28552	0.215	B	0.26416	0.069	T	0.46076	-0.9217	9	0.12103	T	0.63	-1.2323	3.657	0.08225	0.0:0.4271:0.2079:0.365	.	1368	Q5RHP9	CA173_HUMAN	D	1368	ENSP00000322609:E1368D	ENSP00000322609:E1368D	E	-	3	2	C1orf173	74809878	0.000000	0.05858	0.167000	0.22817	0.215000	0.24574	-0.510000	0.06328	1.010000	0.39314	0.561000	0.74099	GAG		0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75055593	75055593	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:75055593T>C	ENST00000326665.5	-	12	2116	c.1898A>G	c.(1897-1899)cAc>cGc	p.H633R	C1orf173_ENST00000420661.2_Missense_Mutation_p.H436R|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		633	Glu-rich.							p.H633R(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						AATTGGAAGGTGAGACTTTCT	0.448																																					p.H633R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1898G	1						.						125.0	126.0	125.0					1																	75055593		2203	4300	6503	74828181	SO:0001583	missense	127254	exon12																														ENST00000326665.5:c.1898A>G	1.37:g.75055593T>C	ENSP00000322609:p.His633Arg		74828181	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.537437	0.45176	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18338	2.62;2.22	5.17	-1.98	0.07480	.	.	.	.	.	T	0.09512	0.0234	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.98;0.998	P;P	0.62089	0.773;0.898	T	0.13176	-1.0519	9	0.15952	T	0.53	0.0	1.3759	0.02220	0.1294:0.1689:0.2645:0.4372	.	436;633	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	R	633;436	ENSP00000322609:H633R;ENSP00000398581:H436R	ENSP00000322609:H633R	H	-	2	0	C1orf173	74828181	0.000000	0.05858	0.127000	0.21898	0.041000	0.13682	-0.001000	0.12947	-0.004000	0.14419	0.472000	0.43445	CAC		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75055749	75055749	+	Nonsense_Mutation	SNP	G	G	T	rs115339919	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:75055749G>T	ENST00000326665.5	-	12	1960	c.1742C>A	c.(1741-1743)tCa>tAa	p.S581*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S384*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		581	Glu-rich.							p.S581*(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						TGAGGTTGATGAAGCAGTTTT	0.368																																					p.S581X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1742A	1						.						34.0	31.0	32.0					1																	75055749		2203	4300	6503	74828337	SO:0001587	stop_gained	127254	exon12																														ENST00000326665.5:c.1742C>A	1.37:g.75055749G>T	ENSP00000322609:p.Ser581*		74828337	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695392	0.68386	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	5.12	2.21	0.28008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0834	7.38	0.26849	0.2835:0.0:0.7165:0.0	.	.	.	.	X	581;384	.	ENSP00000322609:S581X	S	-	2	0	C1orf173	74828337	0.282000	0.24268	0.008000	0.14137	0.004000	0.04260	1.366000	0.34193	0.568000	0.29311	0.542000	0.68232	TCA		0.368	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ACADM	34	broad.mit.edu	37	1	76198353	76198353	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:76198353T>G	ENST00000370841.4	+	3	580	c.143T>G	c.(142-144)tTt>tGt	p.F48C	ACADM_ENST00000420607.2_Missense_Mutation_p.F52C|ACADM_ENST00000370834.5_Missense_Mutation_p.F48C|ACADM_ENST00000541113.1_Missense_Mutation_p.F12C|ACADM_ENST00000543667.1_5'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	48					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.F48C(2)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	CAGAAAGAATTTCAAGCTACT	0.353																																					p.F48C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T143G	1						.						97.0	110.0	105.0					1																	76198353		2202	4300	6502	75970941	SO:0001583	missense	34	exon3			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.143T>G	1.37:g.76198353T>G	ENSP00000359878:p.Phe48Cys		75970941	NM_000016	Q5T4U4|Q9NYF1	De_novo_Start_OutOfFrame	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650581	0.87958	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66	5.77	5.77	0.91146	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.997;0.998;0.998	D;D;D;D;D	0.74674	0.936;0.984;0.957;0.949;0.97	D	0.96633	0.9468	10	0.87932	D	0	.	15.757	0.78043	0.0:0.0:0.0:1.0	.	12;48;48;52;48	B7Z9I1;E9PJM9;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	C	48;48;12;52	ENSP00000359878:F48C;ENSP00000359871:F48C;ENSP00000442324:F12C;ENSP00000409612:F52C	ENSP00000359871:F48C	F	+	2	0	ACADM	75970941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.517000	0.81783	2.196000	0.70406	0.528000	0.53228	TTT		0.353	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
RABGGTB	5876	broad.mit.edu	37	1	76257952	76257952	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:76257952A>G	ENST00000319942.3	+	7	737	c.666A>G	c.(664-666)cgA>cgG	p.R222R	SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000535300.1_Silent_p.R48R|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	222					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.R222R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TTTGTGAACGACAATTACCCT	0.423																																					p.R222R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A666G	1						.						96.0	98.0	97.0					1																	76257952		2203	4300	6503	76030540	SO:0001819	synonymous_variant	5876	exon7			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.666A>G	1.37:g.76257952A>G			76030540	NM_004582	Q92697	Silent	SNP	ENST00000319942.3	37	CCDS669.1																																																																																				0.423	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582	
MSH4	4438	broad.mit.edu	37	1	76282113	76282113	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:76282113A>C	ENST00000263187.3	+	6	975	c.871A>C	c.(871-873)Aat>Cat	p.N291H		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	291					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.N291H(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTTATTCAAAATTCAGTTTA	0.323								Mismatch excision repair (MMR)																													p.N291H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A871C	1						.						50.0	51.0	51.0					1																	76282113		2203	4300	6503	76054701	SO:0001583	missense	4438	exon6			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.871A>C	1.37:g.76282113A>C	ENSP00000263187:p.Asn291His		76054701	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615067	0.87359	.	.	ENSG00000057468	ENST00000263187	D	0.88124	-2.34	5.44	5.44	0.79542	DNA mismatch repair protein MutS, connector (2);	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	M	0.63428	1.95	0.47819	D	0.999525	D	0.56035	0.974	P	0.59357	0.856	D	0.90894	0.4763	10	0.72032	D	0.01	-31.7711	15.5023	0.75709	1.0:0.0:0.0:0.0	.	291	O15457	MSH4_HUMAN	H	291	ENSP00000263187:N291H	ENSP00000263187:N291H	N	+	1	0	MSH4	76054701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.870000	0.92336	2.080000	0.62538	0.533000	0.62120	AAT		0.323	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
MSH4	4438	broad.mit.edu	37	1	76343855	76343855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:76343855G>T	ENST00000263187.3	+	11	1496	c.1392G>T	c.(1390-1392)aaG>aaT	p.K464N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	464					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.K464N(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TACTTGAAAAGATTAAAACAG	0.294								Mismatch excision repair (MMR)																													p.K464N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1392T	1						.						58.0	57.0	57.0					1																	76343855		2203	4298	6501	76116443	SO:0001583	missense	4438	exon11			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1392G>T	1.37:g.76343855G>T	ENSP00000263187:p.Lys464Asn		76116443	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532650	0.45073	.	.	ENSG00000057468	ENST00000263187	D	0.90732	-2.72	5.49	4.38	0.52667	DNA mismatch repair protein MutS, core (3);	0.110117	0.64402	D	0.000009	D	0.85805	0.5782	M	0.63843	1.955	0.38173	D	0.939382	B	0.26445	0.149	B	0.34590	0.186	D	0.85073	0.0941	10	0.45353	T	0.12	-31.9552	11.6717	0.51406	0.1522:0.0:0.8478:0.0	.	464	O15457	MSH4_HUMAN	N	464	ENSP00000263187:K464N	ENSP00000263187:K464N	K	+	3	2	MSH4	76116443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.540000	0.45727	2.576000	0.86940	0.650000	0.86243	AAG		0.294	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
ZZZ3	26009	broad.mit.edu	37	1	78041889	78041889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:78041889C>T	ENST00000370801.3	-	12	2670	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R238Q	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	732					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R732Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGGGTGCTGTCGTCTGCTTGT	0.333																																					p.R732Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2195A	1						.						163.0	150.0	154.0					1																	78041889		2203	4300	6503	77814477	SO:0001583	missense	26009	exon12			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2195G>A	1.37:g.78041889C>T	ENSP00000359837:p.Arg732Gln		77814477	NM_015534	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350235	0.82132	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.13	3.21	0.36854	.	0.000000	0.64402	D	0.000001	T	0.59959	0.2232	L	0.50333	1.59	0.50039	D	0.999844	D;D;D	0.89917	0.975;1.0;0.99	B;D;P	0.69654	0.416;0.965;0.569	T	0.65183	-0.6230	9	0.66056	D	0.02	.	14.2502	0.66013	0.2727:0.7273:0.0:0.0	.	238;732;731	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Q	732;238	.	ENSP00000359834:R238Q	R	-	2	0	ZZZ3	77814477	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	7.052000	0.76634	0.632000	0.30432	-0.282000	0.10007	CGA		0.333	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
ZZZ3	26009	broad.mit.edu	37	1	78098733	78098733	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:78098733T>G	ENST00000370801.3	-	5	782	c.307A>C	c.(307-309)Aat>Cat	p.N103H	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	103					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N103H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTCTCACAATTTTCTATAGCC	0.388																																					p.N103H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A307C	1						.						232.0	239.0	237.0					1																	78098733		2203	4300	6503	77871321	SO:0001583	missense	26009	exon5			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.307A>C	1.37:g.78098733T>G	ENSP00000359837:p.Asn103His		77871321	NM_015534	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260827	0.39995	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.55	4.42	0.53409	.	0.324728	0.36200	N	0.002721	T	0.42086	0.1187	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56035	0.974;0.61;0.729	P;B;B	0.53593	0.73;0.191;0.351	T	0.28267	-1.0049	8	.	.	.	.	11.1823	0.48636	0.0:0.0718:0.0:0.9282	.	103;103;103	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	H	103	.	.	N	-	1	0	ZZZ3	77871321	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.004000	0.40854	2.227000	0.72691	0.528000	0.53228	AAT		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
USP33	23032	broad.mit.edu	37	1	78207369	78207369	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:78207369C>T	ENST00000370793.1	-	3	453	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	USP33_ENST00000357428.1_Missense_Mutation_p.R36Q|USP33_ENST00000370792.3_Missense_Mutation_p.R36Q|USP33_ENST00000528150.1_5'UTR|USP33_ENST00000370794.3_Missense_Mutation_p.R5Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	36					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.R36Q(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACAATGATTTCGAAAAGCTGA	0.299																																					p.R36Q	Melanoma(152;72 1870 11110 26780 42647)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G107A	1						.						42.0	43.0	43.0					1																	78207369		2203	4290	6493	77979957	SO:0001583	missense	23032	exon3			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.107G>A	1.37:g.78207369C>T	ENSP00000359829:p.Arg36Gln		77979957	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952676	0.53293	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536;ENST00000530709;ENST00000524778	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.61	2.7	0.31948	.	0.276491	0.37955	N	0.001863	T	0.12050	0.0293	L	0.27053	0.805	0.25595	N	0.98666	B;B	0.28439	0.212;0.077	B;B	0.23018	0.043;0.012	T	0.15665	-1.0429	10	0.32370	T	0.25	.	6.3018	0.21117	0.2618:0.6025:0.0:0.1357	.	36;36	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	Q	5;36;36;36;36;36;5	ENSP00000359830:R5Q;ENSP00000359829:R36Q;ENSP00000350009:R36Q;ENSP00000359828:R36Q;ENSP00000434441:R36Q;ENSP00000433283:R36Q;ENSP00000436441:R5Q	ENSP00000350009:R36Q	R	-	2	0	USP33	77979957	0.916000	0.31088	0.999000	0.59377	0.478000	0.33099	1.068000	0.30629	0.397000	0.25310	-0.252000	0.11476	CGA		0.299	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
FAM73A	374986	broad.mit.edu	37	1	78325044	78325044	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:78325044A>G	ENST00000370791.3	+	10	1193	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	FAM73A_ENST00000443751.2_Silent_p.K349K	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	387						integral component of membrane (GO:0016021)		p.K387K(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TTCTTGCCAAACTTCACTGTA	0.408																																					p.K387K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1161G	1						.						129.0	123.0	125.0					1																	78325044		2203	4300	6503	78097632	SO:0001819	synonymous_variant	374986	exon10				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1161A>G	1.37:g.78325044A>G			78097632	NM_198549	Q6MZG0	Silent	SNP	ENST00000370791.3	37	CCDS681.1																																																																																				0.408	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549	
PTGFR	5737	broad.mit.edu	37	1	78958623	78958623	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:78958623G>A	ENST00000370757.3	+	2	432	c.195G>A	c.(193-195)tcG>tcA	p.S65S	PTGFR_ENST00000370756.3_Silent_p.S65S|PTGFR_ENST00000370758.1_Silent_p.S65S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	65					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.S65S(2)		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)	CCAAGGCATCGTTTCTGCTTT	0.423																																					p.S65S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G195A	1						.						124.0	119.0	121.0					1																	78958623		2203	4300	6503	78731211	SO:0001819	synonymous_variant	5737	exon2			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.195G>A	1.37:g.78958623G>A			78731211	NM_000959	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	CCDS686.1																																																																																				0.423	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
ELTD1	64123	broad.mit.edu	37	1	79358809	79358809	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:79358809T>C	ENST00000370742.3	-	13	1878	c.1815A>G	c.(1813-1815)ccA>ccG	p.P605P		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	605					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P605P(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AACTAACTTCTGGTTTCAACC	0.303																																					p.P605P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1815G	1						.						78.0	71.0	73.0					1																	79358809		1818	4071	5889	79131397	SO:0001819	synonymous_variant	64123	exon13			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1815A>G	1.37:g.79358809T>C			79131397	NM_022159	B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	CCDS41352.1																																																																																				0.303	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
LPHN2	23266	broad.mit.edu	37	1	82450375	82450375	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:82450375C>T	ENST00000370728.1	+	22	4024	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	LPHN2_ENST00000370715.1_Missense_Mutation_p.R1114C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1129C|LPHN2_ENST00000359929.3_Missense_Mutation_p.R1114C|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1142C|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1052C|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1142C|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1129C|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1127C|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1142C|LPHN2_ENST00000335786.5_Missense_Mutation_p.R1127C|LPHN2_ENST00000370713.1_Missense_Mutation_p.R1114C|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1142C|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1114C			O95490	LPHN2_HUMAN	latrophilin 2	1127					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.R1114C(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)		AACCAGTGCTCGCTATTCCTC	0.448																																					p.R1114C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3340T	1						.						135.0	123.0	127.0					1																	82450375		2203	4300	6503	82222963	SO:0001583	missense	23266	exon18			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.3379C>T	1.37:g.82450375C>T	ENSP00000359763:p.Arg1127Cys		82222963	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.389042|4.389042	0.82902|0.82902	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.72051|.	-0.57;-0.62;-0.57;-0.52;-0.57;-0.52;-0.53;-0.53;-0.61;-0.53;-0.57;-0.52;-0.52;-0.57|.	5.74|5.74	4.82|4.82	0.62117|0.62117	.|.	0.058017|.	0.64402|.	D|.	0.000001|.	T|T	0.66694|0.66694	0.2815|0.2815	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.994;1.0;1.0|.	P;D;D|.	0.76071|.	0.534;0.972;0.987|.	T|T	0.68591|0.68591	-0.5368|-0.5368	10|5	0.87932|.	D|.	0|.	.|.	16.8142|16.8142	0.85729|0.85729	0.0:0.8712:0.1288:0.0|0.0:0.8712:0.1288:0.0	.|.	1114;1114;1114|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	C|L	1052;1127;1127;1142;1142;1129;1114;1114;1114;1114;1142;1129;1142;1127|132	ENSP00000359756:R1052C;ENSP00000359763:R1127C;ENSP00000359765:R1127C;ENSP00000359762:R1142C;ENSP00000359760:R1142C;ENSP00000359758:R1129C;ENSP00000353006:R1114C;ENSP00000359750:R1114C;ENSP00000359748:R1114C;ENSP00000322270:R1114C;ENSP00000359752:R1142C;ENSP00000378344:R1129C;ENSP00000271029:R1142C;ENSP00000337306:R1127C|.	ENSP00000271029:R1142C|.	R|S	+|+	1|2	0|0	LPHN2|LPHN2	82222963|82222963	1.000000|1.000000	0.71417|0.71417	0.802000|0.802000	0.32245|0.32245	0.880000|0.880000	0.50808|0.50808	7.818000|7.818000	0.86416|0.86416	1.421000|1.421000	0.47157|0.47157	0.484000|0.484000	0.47621|0.47621	CGC|TCG		0.448	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
TTLL7	79739	broad.mit.edu	37	1	84372035	84372035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:84372035C>A	ENST00000260505.8	-	17	2481	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	702					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.E702*(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGTTCTGATTCTGCATCTGAC	0.348																																					p.E702X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2104T	1						.						155.0	156.0	156.0					1																	84372035		2203	4300	6503	84144623	SO:0001587	stop_gained	79739	exon17			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2104G>T	1.37:g.84372035C>A	ENSP00000260505:p.Glu702*		84144623	NM_024686	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Nonsense_Mutation	SNP	ENST00000260505.8	37	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	43	10.491722	0.99415	.	.	ENSG00000137941	ENST00000260505;ENST00000370704	.	.	.	5.76	5.76	0.90799	.	0.815442	0.11480	N	0.559794	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7465	0.91795	0.0:1.0:0.0:0.0	.	.	.	.	X	702;479	.	ENSP00000260505:E702X	E	-	1	0	TTLL7	84144623	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.731000	0.74785	2.724000	0.93272	0.585000	0.79938	GAA		0.348	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686	
PRKACB	5567	broad.mit.edu	37	1	84641485	84641485	+	Intron	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:84641485C>A	ENST00000370689.2	+	2	310				PRKACB_ENST00000370682.3_Intron|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000470673.1_Intron|PRKACB_ENST00000370688.3_Intron|PRKACB_ENST00000370685.3_Intron|PRKACB_ENST00000370680.1_Missense_Mutation_p.S20Y|PRKACB_ENST00000394838.2_Missense_Mutation_p.S21Y	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.S21Y(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CATGTAGATTCCTTTGGTATG	0.294																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	1						.						27.0	27.0	27.0					1																	84641485		875	1988	2863	84414073	SO:0001627	intron_variant	5567	.			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.47-3375C>A	1.37:g.84641485C>A			84414073	.	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685721	0.47991	.	.	ENSG00000142875	ENST00000446538;ENST00000394838;ENST00000370680	T;T;T	0.70399	0.02;-0.31;-0.48	3.19	1.24	0.21308	.	.	.	.	.	T	0.36717	0.0977	L	0.27053	0.805	0.80722	D	1	B;B;B	0.28419	0.134;0.134;0.211	B;B;B	0.26693	0.033;0.033;0.072	T	0.30995	-0.9959	9	0.72032	D	0.01	.	6.8271	0.23889	0.0:0.7185:0.1781:0.1034	.	21;20;20	B4DKB0;B1APG3;P22694-6	.;.;.	Y	21;21;20	ENSP00000401252:S21Y;ENSP00000378314:S21Y;ENSP00000359714:S20Y	ENSP00000359714:S20Y	S	+	2	0	PRKACB	84414073	0.994000	0.37717	0.277000	0.24703	0.715000	0.41141	1.096000	0.30976	0.346000	0.23899	0.650000	0.86243	TCC		0.294	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948	
CTBS	1486	broad.mit.edu	37	1	85036366	85036366	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:85036366G>A	ENST00000370630.5	-	2	263	c.215C>T	c.(214-216)tCt>tTt	p.S72F	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	72					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.S72F(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCAATCATAAGATTTCCAAGT	0.373																																					p.S72F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215T	1						.						92.0	93.0	93.0					1																	85036366		2203	4300	6503	84808954	SO:0001583	missense	1486	exon2			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.215C>T	1.37:g.85036366G>A	ENSP00000359664:p.Ser72Phe		84808954	NM_004388	Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	CCDS698.1	.	.	.	.	.	.	.	.	.	.	G	7.153	0.584136	0.13749	.	.	ENSG00000117151	ENST00000370630	T	0.28666	1.6	5.73	-1.58	0.08479	Chitinase II (1);Glycoside hydrolase, superfamily (1);	0.424586	0.30584	N	0.009303	T	0.03915	0.0110	N	0.16478	0.41	0.35842	D	0.826134	B	0.06786	0.001	B	0.06405	0.002	T	0.33929	-0.9849	10	0.09843	T	0.71	-7.0456	4.7242	0.12933	0.2738:0.0:0.2581:0.4681	.	72	Q01459	DIAC_HUMAN	F	72	ENSP00000359664:S72F	ENSP00000359664:S72F	S	-	2	0	CTBS	84808954	0.910000	0.30920	0.982000	0.44146	0.993000	0.82548	0.014000	0.13333	-0.323000	0.08602	0.561000	0.74099	TCT		0.373	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
MCOLN3	55283	broad.mit.edu	37	1	85487838	85487838	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:85487838A>G	ENST00000370589.2	-	11	1287	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	MCOLN3_ENST00000341115.4_Missense_Mutation_p.V356A|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	412					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V412A(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GAACCTGATGACATTGGGCAG	0.468																																					p.V412A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1235C	1						.						91.0	87.0	88.0					1																	85487838		2203	4300	6503	85260426	SO:0001583	missense	55283	exon11			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1235T>C	1.37:g.85487838A>G	ENSP00000359621:p.Val412Ala		85260426	NM_018298	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639704	0.87760	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.74106	-0.81;-0.81	5.52	5.52	0.82312	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.88842	2.985	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89286	0.3615	10	0.87932	D	0	-22.2677	15.6424	0.77016	1.0:0.0:0.0:0.0	.	356;412	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	A	412;412;356;356	ENSP00000359621:V412A;ENSP00000342698:V356A	ENSP00000304843:V412A	V	-	2	0	MCOLN3	85260426	1.000000	0.71417	0.993000	0.49108	0.923000	0.55619	8.905000	0.92613	2.084000	0.62774	0.460000	0.39030	GTC		0.468	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
WDR63	126820	broad.mit.edu	37	1	85555908	85555908	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:85555908T>C	ENST00000294664.6	+	8	1030	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	284								p.S284P(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)		TAACAATGCATCCATAAGGTA	0.269																																					p.S284P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T850C	1						.						33.0	35.0	34.0					1																	85555908		2199	4292	6491	85328496	SO:0001583	missense	126820	exon8				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.850T>C	1.37:g.85555908T>C	ENSP00000294664:p.Ser284Pro		85328496	NM_145172	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368042	0.42003	.	.	ENSG00000162643	ENST00000294664	T	0.47869	0.83	5.6	3.25	0.37280	.	0.485929	0.24215	N	0.040497	T	0.23649	0.0572	M	0.72479	2.2	0.09310	N	1	P	0.43701	0.815	B	0.40982	0.345	T	0.16041	-1.0416	10	0.36615	T	0.2	-17.9953	3.9373	0.09311	0.1279:0.0724:0.1333:0.6665	.	284	Q8IWG1	WDR63_HUMAN	P	284	ENSP00000294664:S284P	ENSP00000294664:S284P	S	+	1	0	WDR63	85328496	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	0.657000	0.24963	0.385000	0.24970	0.482000	0.46254	TCC		0.269	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
BCL10	8915	broad.mit.edu	37	1	85736447	85736447	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:85736447T>G	ENST00000370580.1	-	2	937	c.200A>C	c.(199-201)aAa>aCa	p.K67T		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	67	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.K67T(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTCTAACAATTTTCCAGCCCT	0.378			T	IGH@	MALT																																p.K67T	NSCLC(34;993 1034 12176 32621 50182)		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A200C	1						.						113.0	117.0	116.0					1																	85736447		2203	4300	6503	85509035	SO:0001583	missense	8915	exon2			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.200A>C	1.37:g.85736447T>G	ENSP00000359612:p.Lys67Thr		85509035	NM_003921	Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	CCDS704.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362905	0.82353	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.22743	1.94	5.99	5.99	0.97316	DEATH-like (2);Caspase Recruitment (2);	0.197011	0.53938	D	0.000049	T	0.30978	0.0782	L	0.50333	1.59	0.48571	D	0.999678	D	0.67145	0.996	D	0.67382	0.951	T	0.02144	-1.1206	10	0.51188	T	0.08	-30.8441	16.4943	0.84223	0.0:0.0:0.0:1.0	.	67	O95999	BCL10_HUMAN	T	67	ENSP00000359612:K67T	ENSP00000271015:K67T	K	-	2	0	BCL10	85509035	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.359000	0.73060	2.291000	0.77112	0.533000	0.62120	AAA		0.378	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921	
CYR61	3491	broad.mit.edu	37	1	86047742	86047742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:86047742G>T	ENST00000451137.2	+	3	633	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	137	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)	p.E137*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		GTGTCCCCAAGAACTATCTCT	0.537											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E137X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G409T	1						.						118.0	120.0	119.0					1																	86047742		2203	4300	6503	85820330	SO:0001587	stop_gained	3491	exon3			AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.409G>T	1.37:g.86047742G>T	ENSP00000398736:p.Glu137*	1241	85820330	NM_001554	O14934|O43775|Q9BZL7	Nonsense_Mutation	SNP	ENST00000451137.2	37	CCDS706.1	.	.	.	.	.	.	.	.	.	.	G	37	6.292422	0.97449	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.8584	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	137;113;137	.	ENSP00000353612:E137X	E	+	1	0	CYR61	85820330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.894000	0.99253	0.655000	0.94253	GAA		0.537	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554	
CLCA2	9635	broad.mit.edu	37	1	86907190	86907190	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:86907190C>A	ENST00000370565.4	+	9	1614	c.1452C>A	c.(1450-1452)tcC>tcA	p.S484S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	484					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.S484S(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GTAGAATTTCCTCTGGAACTG	0.383																																					p.S484S	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1452A	1						.						88.0	85.0	86.0					1																	86907190		2203	4300	6503	86679778	SO:0001819	synonymous_variant	9635	exon9				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1452C>A	1.37:g.86907190C>A			86679778	NM_006536	A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	CCDS708.1																																																																																				0.383	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	
CLCA1	1179	broad.mit.edu	37	1	86939148	86939148	+	Nonsense_Mutation	SNP	C	C	T	rs200279591		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:86939148C>T	ENST00000234701.3	+	3	562	c.211C>T	c.(211-213)Cga>Tga	p.R71*	CLCA1_ENST00000394711.1_Nonsense_Mutation_p.R71*			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	71	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				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.R71*(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)		TACAGGAAAGCGATTTTATTT	0.358																																					p.R71X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C211T	1						.						67.0	66.0	66.0					1																	86939148		2203	4300	6503	86711736	SO:0001587	stop_gained	1179	exon2				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.211C>T	1.37:g.86939148C>T	ENSP00000234701:p.Arg71*		86711736	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Nonsense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712603	0.48517	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	.	.	.	5.56	0.565	0.17309	.	0.147343	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.6918	8.42	0.32694	0.4724:0.4162:0.0:0.1114	.	.	.	.	X	71	.	ENSP00000234701:R71X	R	+	1	2	CLCA1	86711736	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.723000	0.25939	0.508000	0.28173	0.655000	0.94253	CGA		0.358	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
CLCA4	22802	broad.mit.edu	37	1	87033126	87033126	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:87033126G>A	ENST00000370563.3	+	7	1016	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	CLCA4_ENST00000263723.5_Missense_Mutation_p.R38Q	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	325	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.R325Q(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)		CGCCTAAATCGAATGAATCAA	0.368																																					p.R325Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974A	1						.						94.0	92.0	92.0					1																	87033126		1921	4164	6085	86805714	SO:0001583	missense	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.974G>A	1.37:g.87033126G>A	ENSP00000359594:p.Arg325Gln		86805714	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233936	0.39498	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	D;D	0.98717	-5.09;-5.09	5.87	4.95	0.65309	von Willebrand factor, type A (3);	0.248125	0.32328	N	0.006246	D	0.96787	0.8951	L	0.57536	1.79	0.22330	N	0.999199	P	0.38455	0.632	P	0.44561	0.453	D	0.92957	0.6385	10	0.41790	T	0.15	-12.5826	15.3459	0.74337	0.0736:0.0:0.9264:0.0	.	325	Q14CN2	CLCA4_HUMAN	Q	325;38	ENSP00000359594:R325Q;ENSP00000263723:R38Q	ENSP00000263723:R38Q	R	+	2	0	CLCA4	86805714	0.967000	0.33354	0.664000	0.29753	0.002000	0.02628	3.964000	0.56780	0.828000	0.34709	-0.797000	0.03246	CGA		0.368	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	
HS2ST1	9653	broad.mit.edu	37	1	87549881	87549881	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:87549881G>A	ENST00000370550.5	+	3	731	c.368G>A	c.(367-369)cGc>cAc	p.R123H	HS2ST1_ENST00000370551.4_Missense_Mutation_p.R123H|HS2ST1_ENST00000356813.4_Missense_Mutation_p.R97H|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.R97H	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	123					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.R123H(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)		TTTTAGGTGCGCTTTGTAAAG	0.294																																					p.R123H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	1						.						86.0	85.0	85.0					1																	87549881		2203	4298	6501	87322469	SO:0001583	missense	9653	exon3			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.368G>A	1.37:g.87549881G>A	ENSP00000359581:p.Arg123His		87322469	NM_001134492	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372086	0.82573	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	L	0.58925	1.835	0.80722	D	1	P;P	0.52577	0.951;0.954	B;B	0.41374	0.355;0.242	T	0.70121	-0.4959	10	0.45353	T	0.12	-14.3116	20.1195	0.97955	0.0:0.0:1.0:0.0	.	123;97	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	H	123;123;97;97	ENSP00000359582:R123H;ENSP00000359581:R123H;ENSP00000359579:R97H;ENSP00000349268:R97H	ENSP00000349268:R97H	R	+	2	0	HS2ST1	87322469	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.797000	0.99108	2.759000	0.94783	0.650000	0.86243	CGC		0.294	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262	
GBP1	2633	broad.mit.edu	37	1	89521784	89521784	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:89521784G>A	ENST00000370473.4	-	8	1502	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	428					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.S428L(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)		CCCTGGTTTCGAATAAATTCC	0.418																																					p.S428L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1283T	1						.						163.0	171.0	168.0					1																	89521784		2203	4300	6503	89294372	SO:0001583	missense	2633	exon8			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.1283C>T	1.37:g.89521784G>A	ENSP00000359504:p.Ser428Leu		89294372	NM_002053	D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586112	0.46110	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.51574	0.7	4.8	4.8	0.61643	Guanylate-binding protein, C-terminal (3);	0.382752	0.27210	N	0.020401	T	0.27900	0.0687	M	0.66560	2.04	0.25566	N	0.986941	B	0.30563	0.285	B	0.28139	0.086	T	0.09058	-1.0692	10	0.36615	T	0.2	.	11.2783	0.49180	0.0:0.1853:0.8147:0.0	.	428	P32455	GBP1_HUMAN	L	428;391	ENSP00000359504:S428L	ENSP00000359504:S428L	S	-	2	0	GBP1	89294372	0.090000	0.21635	0.918000	0.36340	0.044000	0.14063	0.536000	0.23129	2.210000	0.71456	0.491000	0.48974	TCG		0.418	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	
GBP2	2634	broad.mit.edu	37	1	89575454	89575454	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:89575454T>C	ENST00000370466.3	-	10	1833	c.1565A>G	c.(1564-1566)tAt>tGt	p.Y522C	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	522					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.Y522C(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)		ATGTTCCTGATAACTCTTCTC	0.428																																					p.Y522C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1565G	1						.						227.0	173.0	191.0					1																	89575454		2203	4300	6503	89348042	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.1565A>G	1.37:g.89575454T>C	ENSP00000359497:p.Tyr522Cys		89348042	NM_004120	Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	CCDS719.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.252482	0.59212	.	.	ENSG00000162645	ENST00000370466	T	0.56275	0.47	3.85	1.31	0.21738	Guanylate-binding protein, C-terminal (3);	0.234830	0.27609	U	0.018603	T	0.57388	0.2050	M	0.84585	2.705	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.51671	-0.8676	10	0.62326	D	0.03	-8.7042	7.2673	0.26237	0.5416:0.0:0.0:0.4584	.	522	P32456	GBP2_HUMAN	C	522	ENSP00000359497:Y522C	ENSP00000359497:Y522C	Y	-	2	0	GBP2	89348042	0.002000	0.14202	0.003000	0.11579	0.896000	0.52359	0.603000	0.24149	0.115000	0.18071	0.528000	0.53228	TAT		0.428	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120	
GBP7	388646	broad.mit.edu	37	1	89616080	89616080	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:89616080G>T	ENST00000294671.2	-	6	942	c.804C>A	c.(802-804)ttC>ttA	p.F268L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	268	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F268L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TATAAGAACAGAAATTTTCTG	0.403																																					p.F268L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C804A	1						.						111.0	109.0	110.0					1																	89616080		2203	4300	6503	89388668	SO:0001583	missense	388646	exon6			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.804C>A	1.37:g.89616080G>T	ENSP00000294671:p.Phe268Leu		89388668	NM_207398		Missense_Mutation	SNP	ENST00000294671.2	37	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987682	0.53934	.	.	ENSG00000213512	ENST00000294671	T	0.72051	-0.62	3.4	2.48	0.30137	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.62209	1.925	0.30586	N	0.761983	D	0.57571	0.98	P	0.62382	0.901	T	0.63134	-0.6705	10	0.87932	D	0	.	5.4697	0.16662	0.2603:0.0:0.7397:0.0	.	268	Q8N8V2	GBP7_HUMAN	L	268	ENSP00000294671:F268L	ENSP00000294671:F268L	F	-	3	2	GBP7	89388668	1.000000	0.71417	0.057000	0.19452	0.028000	0.11728	2.034000	0.41145	0.640000	0.30582	0.411000	0.27672	TTC		0.403	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398	
GBP5	115362	broad.mit.edu	37	1	89735134	89735134	+	Silent	SNP	C	C	T	rs150964952		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:89735134C>T	ENST00000370459.3	-	2	232	c.105G>A	c.(103-105)acG>acA	p.T35T	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.T35T			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	35	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.		T -> M (in dbSNP:rs3806339).			cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.T35T(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTACAGGTTGCGTAATGGCAG	0.498																																					p.T35T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G105A	1						.						288.0	251.0	263.0					1																	89735134		2203	4300	6503	89507722	SO:0001819	synonymous_variant	115362	exon2			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.105G>A	1.37:g.89735134C>T			89507722	NM_001134486	B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	CCDS722.1																																																																																				0.498	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942	
GBP6	163351	broad.mit.edu	37	1	89849661	89849661	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:89849661C>A	ENST00000370456.4	+	10	1571	c.1478C>A	c.(1477-1479)gCc>gAc	p.A493D	GBP6_ENST00000535065.1_Missense_Mutation_p.A363D	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	493					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.A493D(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)		GTGGATCGGGCCAAGAAGGAG	0.428																																					p.A493D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1478A	1						.						49.0	45.0	46.0					1																	89849661		2203	4300	6503	89622249	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.1478C>A	1.37:g.89849661C>A	ENSP00000359485:p.Ala493Asp		89622249	NM_198460	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856419	0.32791	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.02258	4.37;4.37	5.43	3.22	0.36961	Guanylate-binding protein, C-terminal (3);	0.418050	0.23933	N	0.043134	T	0.04998	0.0134	M	0.80847	2.515	0.09310	N	1	D	0.56746	0.977	D	0.65323	0.934	T	0.10245	-1.0638	10	0.59425	D	0.04	-0.5189	10.5946	0.45329	0.0:0.813:0.0:0.187	.	493	Q6ZN66	GBP6_HUMAN	D	464;493;363	ENSP00000359485:A493D;ENSP00000442530:A363D	ENSP00000359485:A493D	A	+	2	0	GBP6	89622249	0.004000	0.15560	0.028000	0.17463	0.020000	0.10135	0.150000	0.16263	1.301000	0.44836	-0.229000	0.12294	GCC		0.428	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	
GBP6	163351	broad.mit.edu	37	1	89850865	89850865	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:89850865G>A	ENST00000370456.4	+	11	1832	c.1739G>A	c.(1738-1740)cGt>cAt	p.R580H	GBP6_ENST00000535065.1_Missense_Mutation_p.R450H	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	580					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.R580H(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)		CAATTTAAACGTATGATTGAT	0.383																																					p.R580H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1739A	1						.						125.0	117.0	120.0					1																	89850865		2203	4300	6503	89623453	SO:0001583	missense	163351	exon11			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.1739G>A	1.37:g.89850865G>A	ENSP00000359485:p.Arg580His		89623453	NM_198460	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975888	0.18736	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.55413	0.52;0.52	4.86	-2.51	0.06365	Guanylate-binding protein, C-terminal (1);	1.339070	0.05632	N	0.581890	T	0.06917	0.0176	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14476	-1.0471	10	0.25106	T	0.35	0.0064	5.7851	0.18329	0.3892:0.3579:0.2529:0.0	.	580	Q6ZN66	GBP6_HUMAN	H	551;580;450	ENSP00000359485:R580H;ENSP00000442530:R450H	ENSP00000359485:R580H	R	+	2	0	GBP6	89623453	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.361000	0.20267	-0.245000	0.09625	-0.483000	0.04790	CGT		0.383	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	
ZNF326	284695	broad.mit.edu	37	1	90478724	90478724	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:90478724G>A	ENST00000340281.4	+	7	997	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	ZNF326_ENST00000370447.3_Missense_Mutation_p.R196Q|ZNF326_ENST00000455342.2_Missense_Mutation_p.R79Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	285					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.R285Q(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GAAAAGCGGCGAATTGAGGCT	0.368																																					p.R285Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G854A	1						.						51.0	61.0	58.0					1																	90478724		2203	4300	6503	90251312	SO:0001583	missense	284695	exon7			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.854G>A	1.37:g.90478724G>A	ENSP00000340796:p.Arg285Gln		90251312	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577799	0.86645	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.15952	2.38;2.38;2.38	5.51	4.59	0.56863	.	0.088059	0.45867	D	0.000339	T	0.04634	0.0126	L	0.27053	0.805	0.41634	D	0.989039	P;B	0.36438	0.553;0.231	B;B	0.20955	0.032;0.01	T	0.25398	-1.0133	10	0.42905	T	0.14	-5.3608	14.2199	0.65820	0.0726:0.0:0.9274:0.0	.	285;285	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	Q	285;285;196;79	ENSP00000340796:R285Q;ENSP00000359476:R196Q;ENSP00000403470:R79Q	ENSP00000340796:R285Q	R	+	2	0	ZNF326	90251312	1.000000	0.71417	0.940000	0.37924	0.931000	0.56810	6.112000	0.71547	1.304000	0.44892	0.591000	0.81541	CGA		0.368	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
TGFBR3	7049	broad.mit.edu	37	1	92177962	92177962	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:92177962G>T	ENST00000525962.1	-	12	2065	c.2004C>A	c.(2002-2004)ttC>ttA	p.F668L	TGFBR3_ENST00000370399.2_Missense_Mutation_p.F667L|TGFBR3_ENST00000212355.4_Missense_Mutation_p.F668L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	668	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.F668L(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGGGACTGTAGAATTTCACAG	0.423																																					p.F667L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2001A	1						.						150.0	145.0	147.0					1																	92177962		2203	4300	6503	91950550	SO:0001583	missense	7049	exon13			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2004C>A	1.37:g.92177962G>T	ENSP00000436127:p.Phe668Leu		91950550	NM_001195683	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477542	0.84640	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	6.16	5.25	0.73442	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	L	0.61036	1.89	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.943	D	0.84241	0.0472	9	.	.	.	-22.2056	11.7012	0.51571	0.1346:0.0:0.8654:0.0	.	667;668	Q03167-2;Q03167	.;TGBR3_HUMAN	L	668;667;668;667	ENSP00000212355:F668L;ENSP00000359426:F667L;ENSP00000436127:F668L;ENSP00000432638:F667L	.	F	-	3	2	TGFBR3	91950550	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.559000	0.53756	1.623000	0.50342	0.650000	0.86243	TTC		0.423	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
TGFBR3	7049	broad.mit.edu	37	1	92200407	92200407	+	Missense_Mutation	SNP	C	C	T	rs148843052		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:92200407C>T	ENST00000525962.1	-	4	555	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	TGFBR3_ENST00000370399.2_Missense_Mutation_p.R165Q|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Missense_Mutation_p.R165Q			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	165					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R165Q(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATACTCTTTTCGGGCCCAATT	0.398																																					p.R165Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G494A	1						.	C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	189.0	189.0	189.0		494,494,494	-3.0	0.9	1	dbSNP_134	189	0,8600		0,0,4300	no	missense,missense,missense	TGFBR3	NM_001195683.1,NM_001195684.1,NM_003243.4	43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	165/851,165/851,165/852	92200407	1,13005	2203	4300	6503	91972995	SO:0001583	missense	7049	exon5			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.494G>A	1.37:g.92200407C>T	ENSP00000436127:p.Arg165Gln		91972995	NM_001195683	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	7.247	0.602467	0.13939	2.27E-4	0.0	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.92	-3.03	0.05429	.	0.345212	0.34245	N	0.004135	T	0.01661	0.0053	N	0.01219	-0.95	0.30775	N	0.742651	B;B	0.13145	0.005;0.007	B;B	0.06405	0.002;0.001	T	0.40869	-0.9540	10	0.02654	T	1	-0.5473	13.1225	0.59336	0.0:0.2007:0.0:0.7993	.	165;165	Q03167-2;Q03167	.;TGBR3_HUMAN	Q	165	ENSP00000212355:R165Q;ENSP00000359426:R165Q;ENSP00000436127:R165Q;ENSP00000432638:R165Q	ENSP00000212355:R165Q	R	-	2	0	TGFBR3	91972995	0.836000	0.29430	0.942000	0.38095	0.874000	0.50279	0.308000	0.19314	-0.425000	0.07371	-0.143000	0.13931	CGA		0.398	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
BRDT	676	broad.mit.edu	37	1	92441903	92441903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:92441903G>T	ENST00000362005.3	+	6	944	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	BRDT_ENST00000370389.2_Nonsense_Mutation_p.E103*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E176*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.E130*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E176*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	176					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.E176*(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)		TAAGCAGCAAGAAATTCCTTC	0.413																																					p.E176X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G526T	1						.						84.0	83.0	84.0					1																	92441903		2203	4300	6503	92214491	SO:0001587	stop_gained	676	exon5			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.526G>T	1.37:g.92441903G>T	ENSP00000354568:p.Glu176*		92214491	NM_207189	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773360	0.49786	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000394530;ENST00000440509;ENST00000426141;ENST00000402388	.	.	.	5.08	2.1	0.27182	.	1.241350	0.05677	N	0.589543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	1.3395	7.82	0.29282	0.2844:0.0:0.7156:0.0	.	.	.	.	X	176;103;176;176;176;130;176;176;176	.	ENSP00000354568:E176X	E	+	1	0	BRDT	92214491	0.441000	0.25626	0.314000	0.25224	0.135000	0.20990	0.429000	0.21412	0.638000	0.30545	0.555000	0.69702	GAA		0.413	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
BRDT	676	broad.mit.edu	37	1	92456783	92456783	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:92456783C>T	ENST00000362005.3	+	14	2463	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	BRDT_ENST00000370389.2_Missense_Mutation_p.P609L|BRDT_ENST00000402388.1_Missense_Mutation_p.P682L|BRDT_ENST00000394530.3_Missense_Mutation_p.P636L|BRDT_ENST00000399546.2_Missense_Mutation_p.P682L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	682					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.P682L(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)		AATGATTCTCCTTCTAAAGAG	0.249																																					p.P682L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2045T	1						.						25.0	27.0	27.0					1																	92456783		2179	4268	6447	92229371	SO:0001583	missense	676	exon13			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.2045C>T	1.37:g.92456783C>T	ENSP00000354568:p.Pro682Leu		92229371	NM_207189	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654060	0.29425	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.06933	3.24;3.25;3.24;3.3;3.24	5.16	4.21	0.49690	.	0.651322	0.13587	N	0.376921	T	0.04452	0.0122	M	0.63843	1.955	0.30846	N	0.735146	B;B;B;B	0.12013	0.005;0.005;0.001;0.001	B;B;B;B	0.10450	0.005;0.005;0.001;0.005	T	0.17077	-1.0381	10	0.72032	D	0.01	-0.0457	9.7501	0.40470	0.0:0.8952:0.0:0.1048	.	636;636;686;682	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	682;609;682;636;682	ENSP00000354568:P682L;ENSP00000359416:P609L;ENSP00000387822:P682L;ENSP00000378038:P636L;ENSP00000384051:P682L	ENSP00000354568:P682L	P	+	2	0	BRDT	92229371	0.941000	0.31946	0.235000	0.24058	0.805000	0.45488	2.238000	0.43070	1.234000	0.43709	0.447000	0.29281	CCT		0.249	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
CCDC18	343099	broad.mit.edu	37	1	93683309	93683309	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:93683309G>T	ENST00000343253.7	+	14	2344	c.1842G>T	c.(1840-1842)aaG>aaT	p.K614N	CCDC18_ENST00000338949.4_Intron|CCDC18_ENST00000557479.1_Missense_Mutation_p.K733N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.K615N			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	614								p.K733N(2)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGAATGAAAAGATAAGGAGTC	0.353																																					p.K733N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2199T	1						.						49.0	47.0	48.0					1																	93683309		1814	4076	5890	93455897	SO:0001583	missense	343099	exon14					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1842G>T	1.37:g.93683309G>T	ENSP00000343377:p.Lys614Asn		93455897	NM_206886	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.980881|2.980881	0.53827|0.53827	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	T;T;T|.	0.14766|.	2.48;2.48;2.48|.	4.97|4.97	0.86|0.86	0.19042|0.19042	.|.	0.261970|.	0.35013|.	N|.	0.003507|.	T|T	0.36082|0.36082	0.0954|0.0954	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B|.	0.16802|.	0.019|.	B|.	0.14023|.	0.01|.	T|T	0.21930|0.21930	-1.0231|-1.0231	10|5	0.33940|.	T|.	0.23|.	.|.	4.6191|4.6191	0.12440|0.12440	0.3393:0.2851:0.3756:0.0|0.3393:0.2851:0.3756:0.0	.|.	733|.	G3V388|.	.|.	N|I	614;615;733|668	ENSP00000343377:K614N;ENSP00000383808:K615N;ENSP00000451099:K733N|.	ENSP00000343377:K614N|.	K|R	+|+	3|2	2|0	CCDC18|CCDC18	93455897|93455897	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	0.730000|0.730000	0.26043|0.26043	-0.026000|-0.026000	0.13895|0.13895	-0.165000|-0.165000	0.13383|0.13383	AAG|AGA		0.353	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
ABCA4	24	broad.mit.edu	37	1	94485240	94485240	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:94485240G>A	ENST00000370225.3	-	36	5180	c.5094C>T	c.(5092-5094)gtC>gtT	p.V1698V	ABCA4_ENST00000536513.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1698					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.V1698V(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)		TCAAATAAAGGACAAAGCTGG	0.547																																					p.V1698V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5094T	1						.						74.0	62.0	66.0					1																	94485240		2203	4300	6503	94257828	SO:0001819	synonymous_variant	24	exon36			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.5094C>T	1.37:g.94485240G>A			94257828	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.547	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	broad.mit.edu	37	1	94497579	94497579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:94497579C>A	ENST00000370225.3	-	27	3969	c.3883G>T	c.(3883-3885)Gaa>Taa	p.E1295*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1295					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.E1295*(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)		TTGACGTTTTCTCTTTTCTGC	0.502																																					p.E1295X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3883T	1						.						60.0	68.0	66.0					1																	94497579		2203	4299	6502	94270167	SO:0001587	stop_gained	24	exon27			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.3883G>T	1.37:g.94497579C>A	ENSP00000359245:p.Glu1295*		94270167	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	40	8.391849	0.98791	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	.	.	.	5.92	3.94	0.45596	.	4.887320	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4087	0.27006	0.0:0.6828:0.1525:0.1646	.	.	.	.	X	87;1295	.	ENSP00000359245:E1295X	E	-	1	0	ABCA4	94270167	0.096000	0.21769	0.010000	0.14722	0.003000	0.03518	0.722000	0.25925	1.511000	0.48818	-0.145000	0.13849	GAA		0.502	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	broad.mit.edu	37	1	94508433	94508433	+	Missense_Mutation	SNP	G	G	A	rs61750065|rs387906385		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:94508433G>A	ENST00000370225.3	-	22	3298	c.3212C>T	c.(3211-3213)tCg>tTg	p.S1071L		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1071	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> L (in STGD1; reduced ATP-binding capacity).		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.S1071L(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)		AATGGCAACCGACAGCTTTCT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.001				p.S1071L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3212T	1	GRCh37	CI972515|CM990038	ABCA4	I|M	rs61750065	.						87.0	76.0	80.0					1																	94508433		2203	4300	6503	94281021	SO:0001583	missense	24	exon22			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.3212C>T	1.37:g.94508433G>A	ENSP00000359245:p.Ser1071Leu		94281021	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217806	0.95104	.	.	ENSG00000198691	ENST00000370225	D	0.93307	-3.2	5.76	5.76	0.90799	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	L	0.49640	1.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95552	0.8621	10	0.87932	D	0	.	19.9719	0.97287	0.0:0.0:1.0:0.0	rs61750065	1071	P78363	ABCA4_HUMAN	L	1071	ENSP00000359245:S1071L	ENSP00000359245:S1071L	S	-	2	0	ABCA4	94281021	1.000000	0.71417	0.962000	0.40283	0.744000	0.42396	9.837000	0.99465	2.718000	0.92993	0.650000	0.86243	TCG		0.572	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
DPYD	1806	broad.mit.edu	37	1	98165013	98165013	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:98165013G>A	ENST00000370192.3	-	6	674	c.574C>T	c.(574-576)Ctt>Ttt	p.L192F	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	192					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.L192F(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)	GCACCAAAAAGAGCAATCTTT	0.433																																					p.L192F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C574T	1						.						161.0	160.0	160.0					1																	98165013		2203	4300	6503	97937601	SO:0001583	missense	1806	exon6			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.574C>T	1.37:g.98165013G>A	ENSP00000359211:p.Leu192Phe		97937601	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325022	0.81580	.	.	ENSG00000188641	ENST00000370192	D	0.82984	-1.67	5.5	5.5	0.81552	Alpha-helical ferredoxin (1);	0.067190	0.64402	D	0.000009	D	0.91472	0.7308	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.92422	0.5946	10	0.87932	D	0	-18.4137	19.3869	0.94560	0.0:0.0:1.0:0.0	.	192	Q12882	DPYD_HUMAN	F	192	ENSP00000359211:L192F	ENSP00000359211:L192F	L	-	1	0	DPYD	97937601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.276000	0.65580	2.591000	0.87537	0.585000	0.79938	CTT		0.433	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PALMD	54873	broad.mit.edu	37	1	100127901	100127901	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:100127901C>A	ENST00000263174.4	+	2	447	c.72C>A	c.(70-72)atC>atA	p.I24I	PALMD_ENST00000605497.1_Silent_p.I24I	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	24					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.I24I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGGAAGAAATCTCACAGAAGC	0.284																																					p.I24I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C72A	1						.						60.0	67.0	65.0					1																	100127901		2202	4296	6498	99900489	SO:0001819	synonymous_variant	54873	exon2			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.72C>A	1.37:g.100127901C>A			99900489	NM_017734	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Silent	SNP	ENST00000263174.4	37	CCDS758.1																																																																																				0.284	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734	
ZNF692	55657	broad.mit.edu	37	1	249148146	249148146	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr1:249148146C>T	ENST00000306601.4	-	10	1309	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	ZNF692_ENST00000366471.3_Silent_p.K336K|ZNF692_ENST00000451251.1_Silent_p.K386K|ZNF692_ENST00000427146.1_Silent_p.K336K|ZNF692_ENST00000468455.1_5'Flank|ZNF692_ENST00000366469.5_Silent_p.K380K	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	381					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.K381K(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACTGTGCAGCTTCATGTGCT	0.522																																					p.K336K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1008A	1						.						108.0	103.0	104.0					1																	249148146		2203	4300	6503	247114769	SO:0001819	synonymous_variant	55657	exon9			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1143G>A	1.37:g.249148146C>T			247114769	NM_001193328	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844230	0.16963	.	.	ENSG00000171163	ENST00000476503	.	.	.	4.15	1.19	0.21007	.	.	.	.	.	T	0.51618	0.1685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40308	-0.9570	4	.	.	.	-27.9517	5.3632	0.16099	0.0:0.6187:0.0:0.3813	.	.	.	.	T	135	.	.	A	-	1	0	ZNF692	247114769	0.721000	0.28007	1.000000	0.80357	0.962000	0.63368	-0.199000	0.09491	0.500000	0.27991	0.561000	0.74099	GCT		0.522	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865	
SPTLC3	55304	broad.mit.edu	37	20	13134674	13134674	+	Missense_Mutation	SNP	C	C	T	rs573867126		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:13134674C>T	ENST00000399002.2	+	10	1578	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	435					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.A435V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CAGCAACTTGCGAAAAACACA	0.438																																					p.A435V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1304T	20						.						143.0	136.0	138.0					20																	13134674		1913	4141	6054	13082674	SO:0001583	missense	55304	exon10			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.1304C>T	20.37:g.13134674C>T	ENSP00000381968:p.Ala435Val		13082674	NM_018327	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	CCDS13115.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.04|17.04	3.286349|3.286349	0.59867|0.59867	.|.	.|.	ENSG00000172296|ENSG00000172296	ENST00000399002|ENST00000431275	D|.	0.91011|.	-2.77|.	5.91|5.91	2.45|2.45	0.29901|0.29901	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.365309|.	0.33854|.	N|.	0.004497|.	T|.	0.66127|.	0.2758|.	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	P|.	0.36633|.	0.562|.	B|.	0.40375|.	0.327|.	T|.	0.63422|.	-0.6641|.	10|.	0.33141|.	T|.	0.24|.	-0.7846|-0.7846	5.0725|5.0725	0.14613|0.14613	0.3831:0.3544:0.1998:0.0626|0.3831:0.3544:0.1998:0.0626	.|.	435|.	Q9NUV7|.	SPTC3_HUMAN|.	V|X	435|33	ENSP00000381968:A435V|.	ENSP00000381968:A435V|.	A|R	+|+	2|1	0|2	SPTLC3|SPTLC3	13082674|13082674	0.997000|0.997000	0.39634|0.39634	0.790000|0.790000	0.31976|0.31976	0.930000|0.930000	0.56654|0.56654	0.934000|0.934000	0.28910|0.28910	0.584000|0.584000	0.29591|0.29591	0.555000|0.555000	0.69702|0.69702	GCG|CGA		0.438	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	
NSFL1C	55968	broad.mit.edu	37	20	1445016	1445016	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:1445016G>A	ENST00000216879.4	-	2	1028	c.161C>T	c.(160-162)tCg>tTg	p.S54L	NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000476071.1_Missense_Mutation_p.S54L|NSFL1C_ENST00000353088.2_Missense_Mutation_p.S54L|NSFL1C_ENST00000350991.4_Missense_Mutation_p.S54L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	54						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S54L(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GGTTGCCTGCGAAATGGTCAC	0.522																																					p.S54L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C161T	20						.						185.0	171.0	176.0					20																	1445016		2203	4300	6503	1393016	SO:0001583	missense	55968	exon2			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.161C>T	20.37:g.1445016G>A	ENSP00000216879:p.Ser54Leu		1393016	NM_016143	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796930	0.70567	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000350991	T;T;T;T	0.47177	0.85;0.86;0.85;0.86	5.11	5.11	0.69529	.	0.139015	0.50627	D	0.000117	T	0.33411	0.0862	N	0.25890	0.77	0.80722	D	1	P;B	0.34546	0.456;0.368	B;B	0.24701	0.055;0.024	T	0.11916	-1.0568	10	0.29301	T	0.29	-5.2614	16.9005	0.86112	0.0:0.0:1.0:0.0	.	54;54	Q9UNZ2-4;Q9UNZ2	.;NSF1C_HUMAN	L	54	ENSP00000338643:S54L;ENSP00000418529:S54L;ENSP00000216879:S54L;ENSP00000202584:S54L	ENSP00000216879:S54L	S	-	2	0	NSFL1C	1393016	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.009000	0.70745	2.641000	0.89580	0.591000	0.81541	TCG		0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143	
SEL1L2	80343	broad.mit.edu	37	20	13869146	13869146	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:13869146A>C	ENST00000284951.5	-	6	636	c.562T>G	c.(562-564)Ttg>Gtg	p.L188V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.L188V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	188						integral component of membrane (GO:0016021)		p.L188V(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						TAAGAAGACAAAAATCCTAAT	0.279																																					p.L188V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T562G	20						.						49.0	44.0	45.0					20																	13869146		1803	4056	5859	13817146	SO:0001583	missense	80343	exon6			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.562T>G	20.37:g.13869146A>C	ENSP00000284951:p.Leu188Val		13817146	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	A	16.90	3.249948	0.59212	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.55234	0.53;0.53	5.7	3.42	0.39159	Tetratricopeptide-like helical (1);	0.275088	0.25686	N	0.028978	T	0.64305	0.2586	M	0.66378	2.025	0.33979	D	0.647768	P;D	0.76494	0.642;0.999	P;D	0.80764	0.698;0.994	T	0.71623	-0.4537	10	0.62326	D	0.03	-3.0237	5.0836	0.14671	0.739:0.0:0.261:0.0	.	188;188	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	188	ENSP00000367312:L188V;ENSP00000284951:L188V	ENSP00000284951:L188V	L	-	1	2	SEL1L2	13817146	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.065000	0.30592	1.012000	0.39366	0.528000	0.53228	TTG		0.279	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
BFSP1	631	broad.mit.edu	37	20	17479597	17479597	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:17479597C>T	ENST00000377873.3	-	6	863	c.824G>A	c.(823-825)cGc>cAc	p.R275H	BFSP1_ENST00000544874.1_Missense_Mutation_p.R136H|BFSP1_ENST00000536626.1_Missense_Mutation_p.R136H|BFSP1_ENST00000377868.2_Missense_Mutation_p.R150H	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	275	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.R275H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AATCTCCTTGCGCAGTGTCTC	0.522																																					p.R150H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	20						.						139.0	126.0	131.0					20																	17479597		2203	4300	6503	17427597	SO:0001583	missense	631	exon6			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.824G>A	20.37:g.17479597C>T	ENSP00000367104:p.Arg275His		17427597	NM_001161705	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083641	0.76642	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.88818	-2.43;0.87;0.87;0.87	6.07	4.15	0.48705	.	0.107747	0.64402	D	0.000011	D	0.92688	0.7676	M	0.72894	2.215	0.44976	D	0.99799	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	D	0.92100	0.5687	10	0.87932	D	0	-20.9152	9.0688	0.36480	0.0:0.7779:0.0:0.2221	.	150;275	Q12934-2;Q12934	.;BFSP1_HUMAN	H	275;150;136;136	ENSP00000367104:R275H;ENSP00000367099:R150H;ENSP00000442522:R136H;ENSP00000439870:R136H	ENSP00000367099:R150H	R	-	2	0	BFSP1	17427597	1.000000	0.71417	0.994000	0.49952	0.675000	0.39556	3.451000	0.52964	0.908000	0.36671	0.655000	0.94253	CGC		0.522	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195	
RRBP1	6238	broad.mit.edu	37	20	17640659	17640659	+	Missense_Mutation	SNP	G	G	A	rs142603533		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:17640659G>A	ENST00000377813.1	-	3	797	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.S165L|RRBP1_ENST00000246043.4_Missense_Mutation_p.S165L|RRBP1_ENST00000360807.4_Missense_Mutation_p.S165L			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	165					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.S165L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCAGCCTTCGAAGTGAGAAC	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16781	0.0		0.0	False		,,,				2504	0.0				p.S165L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C494T	20						.	G	LEU/SER,LEU/SER	8,4398	14.3+/-33.2	0,8,2195	71.0	59.0	63.0		494,494	3.8	0.6	20	dbSNP_134	63	0,8600		0,0,4300	yes	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	145,145	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	possibly-damaging,possibly-damaging	165/978,165/978	17640659	8,12998	2203	4300	6503	17588659	SO:0001583	missense	6238	exon3			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.494C>T	20.37:g.17640659G>A	ENSP00000367044:p.Ser165Leu		17588659	NM_001042576	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.00	2.404990	0.42613	0.001816	0.0	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	T;T;T;T	0.42900	0.96;1.75;0.96;1.75	4.73	3.78	0.43462	.	0.000000	0.30293	N	0.009946	T	0.38401	0.1039	L	0.53249	1.67	0.80722	D	1	B	0.25169	0.119	B	0.20184	0.028	T	0.35226	-0.9797	10	0.72032	D	0.01	-8.7898	12.2642	0.54668	0.0832:0.0:0.9168:0.0	.	165	Q9P2E9-3	.	L	165	ENSP00000354045:S165L;ENSP00000367044:S165L;ENSP00000367038:S165L;ENSP00000246043:S165L	ENSP00000246043:S165L	S	-	2	0	RRBP1	17588659	1.000000	0.71417	0.609000	0.28983	0.048000	0.14542	5.541000	0.67212	1.145000	0.42336	0.563000	0.77884	TCG		0.552	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	
SCP2D1	140856	broad.mit.edu	37	20	18794607	18794607	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:18794607G>A	ENST00000377428.2	+	1	238	c.148G>A	c.(148-150)Gac>Aac	p.D50N	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	50	SCP2.							p.D50N(1)									AGTGTTTCAGGACATTAGGCT	0.498																																					p.D50N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G148A	20						.						108.0	96.0	100.0					20																	18794607		2203	4300	6503	18742607	SO:0001583	missense	140856	exon1			AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.148G>A	20.37:g.18794607G>A	ENSP00000366645:p.Asp50Asn		18742607	NM_178483	Q548A4	Missense_Mutation	SNP	ENST00000377428.2	37	CCDS13139.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390193	0.42410	.	.	ENSG00000132631	ENST00000377428	T	0.22134	1.97	5.85	4.9	0.64082	SCP2 sterol-binding domain (1);	0.093367	0.47455	D	0.000229	T	0.17238	0.0414	L	0.38175	1.15	0.39052	D	0.960349	P	0.38863	0.65	B	0.34873	0.191	T	0.05209	-1.0899	10	0.59425	D	0.04	-19.7093	12.5065	0.55984	0.0805:0.0:0.9195:0.0	.	50	Q9UJQ7	CT079_HUMAN	N	50	ENSP00000366645:D50N	ENSP00000366645:D50N	D	+	1	0	C20orf79	18742607	1.000000	0.71417	0.999000	0.59377	0.038000	0.13279	5.250000	0.65432	1.476000	0.48215	0.467000	0.42956	GAC		0.498	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483	
SLC24A3	57419	broad.mit.edu	37	20	19565691	19565691	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:19565691C>T	ENST00000328041.6	+	5	697	c.500C>T	c.(499-501)tCg>tTg	p.S167L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	167					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.S167L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGTTCACATCGGTCATAGGT	0.562																																					p.S167L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500T	20						.						98.0	82.0	87.0					20																	19565691		2203	4300	6503	19513691	SO:0001583	missense	57419	exon5			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.500C>T	20.37:g.19565691C>T	ENSP00000333519:p.Ser167Leu		19513691	NM_020689	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770604	0.90108	.	.	ENSG00000185052	ENST00000328041	T	0.69306	-0.39	5.19	5.19	0.71726	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.88775	0.6528	H	0.98276	4.19	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.93057	0.6471	9	.	.	.	.	16.2033	0.82103	0.0:1.0:0.0:0.0	.	167	Q9HC58	NCKX3_HUMAN	L	167	ENSP00000333519:S167L	.	S	+	2	0	SLC24A3	19513691	1.000000	0.71417	0.140000	0.22221	0.887000	0.51463	7.381000	0.79718	2.435000	0.82474	0.313000	0.20887	TCG		0.562	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
SLC24A3	57419	broad.mit.edu	37	20	19662539	19662539	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:19662539A>G	ENST00000328041.6	+	10	1002	c.805A>G	c.(805-807)Aca>Gca	p.T269A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	269					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.T269A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAGAGGAGGACAAAAGGTGC	0.473																																					p.T269A												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.A805G	20						.						147.0	128.0	134.0					20																	19662539		2203	4300	6503	19610539	SO:0001583	missense	57419	exon10			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.805A>G	20.37:g.19662539A>G	ENSP00000333519:p.Thr269Ala		19610539	NM_020689	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779992	0.31502	.	.	ENSG00000185052	ENST00000328041	T	0.61040	0.14	5.06	5.06	0.68205	.	0.101187	0.64402	D	0.000003	T	0.45115	0.1326	L	0.29908	0.895	0.44500	D	0.997444	B	0.09022	0.002	B	0.09377	0.004	T	0.32719	-0.9896	9	.	.	.	.	14.7795	0.69754	1.0:0.0:0.0:0.0	.	269	Q9HC58	NCKX3_HUMAN	A	269	ENSP00000333519:T269A	.	T	+	1	0	SLC24A3	19610539	1.000000	0.71417	0.881000	0.34555	0.891000	0.51852	4.027000	0.57239	2.030000	0.59900	0.402000	0.26972	ACA		0.473	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
RIN2	54453	broad.mit.edu	37	20	19951535	19951535	+	Missense_Mutation	SNP	C	C	T	rs531782187	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:19951535C>T	ENST00000255006.6	+	7	886	c.737C>T	c.(736-738)tCg>tTg	p.S246L	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	197					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.S197L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ACAGCCAAGTCGGAGGCTCAG	0.438													C|||	3	0.000599042	0.0	0.0	5008	,	,		20118	0.0		0.003	False		,,,				2504	0.0				p.S197L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C590T	20						.						69.0	71.0	70.0					20																	19951535		1934	4128	6062	19899535	SO:0001583	missense	54453	exon6			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.737C>T	20.37:g.19951535C>T	ENSP00000255006:p.Ser246Leu		19899535	NM_018993	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349905	0.82132	.	.	ENSG00000132669	ENST00000255006	T	0.49720	0.77	5.66	5.66	0.87406	.	0.049002	0.85682	D	0.000000	T	0.42337	0.1198	L	0.39898	1.24	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18967	-1.0320	9	.	.	.	-15.9515	19.3505	0.94381	0.0:1.0:0.0:0.0	.	197	Q8WYP3	RIN2_HUMAN	L	246	ENSP00000255006:S246L	.	S	+	2	0	RIN2	19899535	1.000000	0.71417	0.975000	0.42487	0.971000	0.66376	7.234000	0.78134	2.665000	0.90641	0.563000	0.77884	TCG		0.438	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1		
CRNKL1	51340	broad.mit.edu	37	20	20016971	20016971	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:20016971G>T	ENST00000377340.2	-	15	2446	c.2415C>A	c.(2413-2415)atC>atA	p.I805I	CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Silent_p.I644I|CRNKL1_ENST00000377327.4_Silent_p.I793I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	805					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I805I(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CTTCTGGAAAGATGTAATCAA	0.433																																					p.I805I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2415A	20						.						105.0	87.0	93.0					20																	20016971		2203	4300	6503	19964971	SO:0001819	synonymous_variant	51340	exon15			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2415C>A	20.37:g.20016971G>T			19964971	NM_016652	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	CCDS33446.1																																																																																				0.433	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
CRNKL1	51340	broad.mit.edu	37	20	20018071	20018071	+	Nonsense_Mutation	SNP	G	G	A	rs34529339		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:20018071G>A	ENST00000377340.2	-	14	2306	c.2275C>T	c.(2275-2277)Cga>Tga	p.R759*	CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.R598*|CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.R747*	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	759					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R759*(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCAAAACTTCGCCAAGATTCC	0.393																																					p.R759X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2275T	20						.						227.0	225.0	226.0					20																	20018071		2203	4300	6503	19966071	SO:0001587	stop_gained	51340	exon14			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2275C>T	20.37:g.20018071G>A	ENSP00000366557:p.Arg759*		19966071	NM_016652	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Nonsense_Mutation	SNP	ENST00000377340.2	37	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	38	7.009543	0.97998	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	.	.	.	5.02	1.79	0.24919	.	0.225617	0.43110	D	0.000610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.344	14.172	0.65514	0.0:0.0:0.3101:0.6899	.	.	.	.	X	747;759;598	.	ENSP00000366544:R747X	R	-	1	2	CRNKL1	19966071	1.000000	0.71417	0.765000	0.31456	0.978000	0.69477	1.546000	0.36179	0.215000	0.20761	0.484000	0.47621	CGA		0.393	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
TGM3	7053	broad.mit.edu	37	20	2315768	2315768	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:2315768A>C	ENST00000381458.5	+	11	1712	c.1649A>C	c.(1648-1650)gAa>gCa	p.E550A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	550					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.E550A(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCAGAGGCAGAACATCCCATA	0.542																																					p.E550A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1649C	20						.						115.0	95.0	102.0					20																	2315768		2203	4300	6503	2263768	SO:0001583	missense	7053	exon11			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1649A>C	20.37:g.2315768A>C	ENSP00000370867:p.Glu550Ala		2263768	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	A	7.804	0.714179	0.15306	.	.	ENSG00000125780	ENST00000381458	T	0.68479	-0.33	5.13	1.47	0.22746	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.850865	0.10622	N	0.653226	T	0.54143	0.1840	L	0.47716	1.5	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.39583	-0.9607	10	0.27785	T	0.31	-0.2036	4.8163	0.13369	0.6304:0.0:0.082:0.2876	.	550	Q08188	TGM3_HUMAN	A	550	ENSP00000370867:E550A	ENSP00000370867:E550A	E	+	2	0	TGM3	2263768	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.701000	0.25616	-0.034000	0.13713	-0.516000	0.04426	GAA		0.542	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
XRN2	22803	broad.mit.edu	37	20	21314188	21314188	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:21314188G>T	ENST00000377191.3	+	10	960	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	XRN2_ENST00000539513.1_Nonsense_Mutation_p.E235*|XRN2_ENST00000430571.2_Nonsense_Mutation_p.E213*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	289					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.E289*(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCAGCATGATGAACTTGCCGA	0.388																																					p.E289X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G865T	20						.						228.0	209.0	215.0					20																	21314188		2203	4300	6503	21262188	SO:0001587	stop_gained	22803	exon10			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.865G>T	20.37:g.21314188G>T	ENSP00000366396:p.Glu289*		21262188	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	37	6.299132	0.97453	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.73	4.73	0.59995	.	0.088838	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-24.4599	17.1989	0.86901	0.0:0.1789:0.8211:0.0	.	.	.	.	X	289;213;235	.	ENSP00000366396:E289X	E	+	1	0	XRN2	21262188	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.853000	0.62911	2.709000	0.92574	0.655000	0.94253	GAA		0.388	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
CST7	8530	broad.mit.edu	37	20	24939636	24939636	+	Missense_Mutation	SNP	C	C	T	rs371415469		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:24939636C>T	ENST00000480798.1	+	3	592	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	CST7_ENST00000376835.2_Missense_Mutation_p.R128C	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	106					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)	p.R128C(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CCAGCACCTGCGTCTGGATGA	0.522																																					p.R106C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C316T	20						.	C	CYS/ARG	0,4406		0,0,2203	140.0	132.0	135.0		316	-2.5	0.0	20		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	CST7	NM_003650.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	106/146	24939636	1,13005	2203	4300	6503	24887636	SO:0001583	missense	8530	exon3			AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.316C>T	20.37:g.24939636C>T	ENSP00000420384:p.Arg106Cys		24887636	NM_003650	Q6FH95|Q7Z4J8|Q9UED4	Missense_Mutation	SNP	ENST00000480798.1	37	CCDS13165.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.532069	0.27387	0.0	1.16E-4	ENSG00000077984	ENST00000480798;ENST00000376835	T;T	0.14144	2.53;2.53	5.71	-2.45	0.06481	Proteinase inhibitor I25, cystatin (2);	1.089590	0.07025	N	0.827457	T	0.11707	0.0285	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.53490	0.727	T	0.33929	-0.9849	10	0.66056	D	0.02	-20.5642	8.5832	0.33642	0.3576:0.491:0.1514:0.0	.	106	O76096	CYTF_HUMAN	C	106;128	ENSP00000420384:R106C;ENSP00000366031:R128C	ENSP00000366031:R128C	R	+	1	0	CST7	24887636	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.429000	0.06982	-0.691000	0.05135	-0.521000	0.04368	CGT		0.522	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650	
PYGB	5834	broad.mit.edu	37	20	25239909	25239909	+	Missense_Mutation	SNP	C	C	T	rs200651502		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:25239909C>T	ENST00000216962.4	+	2	390	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	94					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.R94C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CTACATGGGTCGCACGCTGCA	0.493																																					p.R94C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C280T	20						.						110.0	111.0	110.0					20																	25239909		2203	4300	6503	25187909	SO:0001583	missense	5834	exon2				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.280C>T	20.37:g.25239909C>T	ENSP00000216962:p.Arg94Cys		25187909	NM_002862	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865791	0.71949	.	.	ENSG00000100994	ENST00000216962	D	0.93189	-3.18	4.38	4.38	0.52667	.	0.110634	0.64402	D	0.000012	D	0.97845	0.9292	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99113	1.0847	10	0.87932	D	0	-19.5793	16.214	0.82191	0.0:1.0:0.0:0.0	.	94	P11216	PYGB_HUMAN	C	94	ENSP00000216962:R94C	ENSP00000216962:R94C	R	+	1	0	PYGB	25187909	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.252000	0.51461	2.431000	0.82371	0.655000	0.94253	CGC		0.493	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862	
NINL	22981	broad.mit.edu	37	20	25434140	25434140	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:25434140G>A	ENST00000278886.6	-	24	4169	c.4096C>T	c.(4096-4098)Cgc>Tgc	p.R1366C	NINL_ENST00000422516.1_Missense_Mutation_p.R1017C|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1366			R -> H (in dbSNP:rs17857107). {ECO:0000269|PubMed:15489334}.		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.R1366C(2)		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						TTGAGAGCGCGAACTTTTTCT	0.507																																					p.R1366C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4096T	20						.						103.0	105.0	104.0					20																	25434140		2203	4300	6503	25382140	SO:0001583	missense	22981	exon24				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.4096C>T	20.37:g.25434140G>A	ENSP00000278886:p.Arg1366Cys		25382140	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826572	0.50739	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35605	1.3;1.3	5.04	0.263	0.15602	.	1.477320	0.04350	N	0.355413	T	0.56108	0.1963	M	0.65975	2.015	0.09310	N	1	D;D;D	0.89917	0.998;0.997;1.0	P;D;D	0.65010	0.804;0.926;0.931	T	0.44050	-0.9353	10	0.72032	D	0.01	-2.1281	9.1677	0.37060	0.0:0.0908:0.3894:0.5198	.	1017;1366;157	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	C	1366;1017	ENSP00000278886:R1366C;ENSP00000410431:R1017C	ENSP00000278886:R1366C	R	-	1	0	NINL	25382140	0.000000	0.05858	0.001000	0.08648	0.594000	0.36715	-0.593000	0.05740	0.148000	0.19059	0.655000	0.94253	CGC		0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
VPS16	64601	broad.mit.edu	37	20	2840756	2840756	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:2840756G>A	ENST00000380445.3	+	3	271	c.199G>A	c.(199-201)Gat>Aat	p.D67N	VPS16_ENST00000380469.3_Missense_Mutation_p.D67N|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	67					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.D67N(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						GCCAGTGCTCGATATATACTC	0.587																																					p.D67N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	20						.						94.0	86.0	89.0					20																	2840756		2203	4300	6503	2788756	SO:0001583	missense	64601	exon3			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.199G>A	20.37:g.2840756G>A	ENSP00000369810:p.Asp67Asn		2788756	NM_080413	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795276	0.31777	.	.	ENSG00000215305	ENST00000380445;ENST00000380469	T;T	0.44881	0.93;0.91	5.84	4.84	0.62591	Vps16, N-terminal (1);	0.252711	0.45361	D	0.000368	T	0.39682	0.1087	M	0.62088	1.915	0.80722	D	1	B;B	0.25743	0.133;0.074	B;B	0.19391	0.016;0.025	T	0.16305	-1.0407	10	0.27785	T	0.31	-9.5394	13.7606	0.62963	0.0:0.1673:0.8327:0.0	.	67;67	Q9H269-2;Q9H269	.;VPS16_HUMAN	N	67	ENSP00000369810:D67N;ENSP00000369836:D67N	ENSP00000369810:D67N	D	+	1	0	VPS16	2788756	1.000000	0.71417	0.938000	0.37757	0.876000	0.50452	4.923000	0.63412	2.769000	0.95229	0.563000	0.77884	GAT		0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575	
VPS16	64601	broad.mit.edu	37	20	2842331	2842331	+	Missense_Mutation	SNP	G	G	A	rs200275618		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:2842331G>A	ENST00000380445.3	+	9	952	c.880G>A	c.(880-882)Gat>Aat	p.D294N	VPS16_ENST00000380469.3_Missense_Mutation_p.D294N|VPS16_ENST00000380443.3_5'Flank|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	294					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.D294N(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						GGTGGTGGGCGATGCACCCGA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17875	0.0		0.001	False		,,,				2504	0.0				p.D294N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880A	20						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	83.0	71.0	75.0		880,880	2.9	0.7	20		75	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	VPS16	NM_022575.2,NM_080413.1	23,23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	294/840,294/696	2842331	2,13004	2203	4300	6503	2790331	SO:0001583	missense	64601	exon9			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.880G>A	20.37:g.2842331G>A	ENSP00000369810:p.Asp294Asn		2790331	NM_080413	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.86	1.471036	0.26423	0.0	2.33E-4	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.43294	0.95;0.97	5.55	2.89	0.33648	Vps16, N-terminal (1);	0.452659	0.26594	N	0.023516	T	0.20088	0.0483	N	0.08118	0	0.48040	D	0.999573	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.03993	-1.0986	10	0.31617	T	0.26	-8.002	7.3853	0.26878	0.2651:0.0:0.7349:0.0	.	294;294	Q9H269-2;Q9H269	.;VPS16_HUMAN	N	294;294;176;176	ENSP00000369810:D294N;ENSP00000369836:D294N	ENSP00000369810:D294N	D	+	1	0	VPS16	2790331	0.022000	0.18835	0.685000	0.30070	0.840000	0.47671	0.778000	0.26732	0.875000	0.35847	0.603000	0.83216	GAT		0.622	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575	
NINL	22981	broad.mit.edu	37	20	25469916	25469916	+	Silent	SNP	G	G	A	rs148450519		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:25469916G>A	ENST00000278886.6	-	13	1714	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	NINL_ENST00000422516.1_Silent_p.F547F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	547					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.F547F(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						GGACTGCTGCGAACCGCTCCT	0.617																																					p.F547F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1641T	20						.	G		1,4405	2.1+/-5.4	0,1,2202	157.0	144.0	149.0		1641	-3.3	0.0	20	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous	NINL	NM_025176.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		547/1383	25469916	1,13005	2203	4300	6503	25417916	SO:0001819	synonymous_variant	22981	exon13				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.1641C>T	20.37:g.25469916G>A			25417916	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	CCDS33452.1																																																																																				0.617	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
TPX2	22974	broad.mit.edu	37	20	30354391	30354391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:30354391G>T	ENST00000300403.6	+	5	790	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.E88*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	88					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.E88*(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)			GGCAGAAAAAGAAAATCTTGT	0.438																																					p.E88X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G262T	20						.						121.0	118.0	119.0					20																	30354391		2203	4300	6503	29818052	SO:0001587	stop_gained	22974	exon5			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.262G>T	20.37:g.30354391G>T	ENSP00000300403:p.Glu88*		29818052	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	37	6.253133	0.97417	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	4.99	4.04	0.47022	.	0.165893	0.42420	D	0.000718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-10.7672	9.2973	0.37824	0.0973:0.0:0.9027:0.0	.	.	.	.	X	88	.	ENSP00000300403:E88X	E	+	1	0	TPX2	29818052	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	1.789000	0.38724	1.462000	0.47948	0.655000	0.94253	GAA		0.438	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
PDRG1	81572	broad.mit.edu	37	20	30534339	30534339	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:30534339C>T	ENST00000202017.4	-	4	409	c.279G>A	c.(277-279)aaG>aaA	p.K93K		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	93					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)		p.K93K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTAAGTTGCTTCCGCAGTT	0.448																																					p.K93K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G279A	20						.						151.0	140.0	144.0					20																	30534339		2203	4300	6503	29998000	SO:0001819	synonymous_variant	81572	exon4			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"""chromosome 20 open reading frame 126"""	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.279G>A	20.37:g.30534339C>T			29998000	NM_030815	B2R511|Q96GP3|Q9BUW8	Silent	SNP	ENST00000202017.4	37	CCDS13194.1																																																																																				0.448	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078593.2	NM_030815	
UBOX5	22888	broad.mit.edu	37	20	3103213	3103213	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:3103213G>A	ENST00000217173.2	-	3	543	c.72C>T	c.(70-72)taC>taT	p.Y24Y	UBOX5_ENST00000348031.2_Silent_p.Y24Y|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.Y24Y(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TTTCTACTTCGTAACCATCAG	0.353																																					p.Y24Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C72T	20						.						52.0	53.0	53.0					20																	3103213		2202	4300	6502	3051213	SO:0001819	synonymous_variant	22888	exon3			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.72C>T	20.37:g.3103213G>A			3051213	NM_014948		Silent	SNP	ENST00000217173.2	37	CCDS13046.1																																																																																				0.353	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948	
POFUT1	23509	broad.mit.edu	37	20	30818785	30818785	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:30818785C>T	ENST00000375749.3	+	6	961	c.899C>T	c.(898-900)tCg>tTg	p.S300L	POFUT1_ENST00000539210.1_Missense_Mutation_p.S89L|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	300					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)	p.S300L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGGTGAGGTCGCTGGATGCC	0.582																																					p.S300L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899T	20						.						125.0	112.0	117.0					20																	30818785		2203	4300	6503	30282446	SO:0001583	missense	23509	exon6			AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.899C>T	20.37:g.30818785C>T	ENSP00000364902:p.Ser300Leu		30282446	NM_015352	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	C	4.819	0.152286	0.09185	.	.	ENSG00000101346	ENST00000375749;ENST00000539210	T;T	0.29397	1.57;1.57	5.28	2.12	0.27331	.	0.577615	0.19541	N	0.111810	T	0.14227	0.0344	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	10	0.34782	T	0.22	-16.3885	1.6877	0.02845	0.2445:0.4619:0.1194:0.1743	.	300	Q9H488	OFUT1_HUMAN	L	300;89	ENSP00000364902:S300L;ENSP00000446154:S89L	ENSP00000364902:S300L	S	+	2	0	POFUT1	30282446	0.284000	0.24287	0.001000	0.08648	0.004000	0.04260	2.151000	0.42263	0.630000	0.30394	0.650000	0.86243	TCG		0.582	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352	
BPIFA1	51297	broad.mit.edu	37	20	31825902	31825902	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:31825902C>A	ENST00000354297.4	+	3	273	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	BPIFA1_ENST00000375413.4_Missense_Mutation_p.L68M|BPIFA1_ENST00000375422.2_Missense_Mutation_p.L68M	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	68					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.L68M(1)									GTTGGGCATTCTGGAAAACCT	0.572																																					p.L68M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202A	20						.						59.0	59.0	59.0					20																	31825902		2203	4300	6503	31289563	SO:0001583	missense	51297	exon3			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.202C>A	20.37:g.31825902C>A	ENSP00000346251:p.Leu68Met		31289563	NM_016583	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380537	0.24944	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.10860	2.83;2.83;2.83	5.54	2.44	0.29823	.	0.238035	0.29884	N	0.010946	T	0.27027	0.0662	M	0.82323	2.585	0.09310	N	1	D	0.69078	0.997	D	0.67900	0.954	T	0.10965	-1.0607	10	0.72032	D	0.01	-6.1882	3.5348	0.07790	0.175:0.564:0.1691:0.0918	.	68	Q9NP55	BPIA1_HUMAN	M	68;68;68;54	ENSP00000364571:L68M;ENSP00000346251:L68M;ENSP00000364562:L68M	ENSP00000346251:L68M	L	+	1	2	BPIFA1	31289563	0.073000	0.21202	0.002000	0.10522	0.030000	0.12068	0.695000	0.25527	0.384000	0.24942	0.655000	0.94253	CTG		0.572	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	
BPIFA1	51297	broad.mit.edu	37	20	31825964	31825964	+	Silent	SNP	T	T	C	rs200411187		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:31825964T>C	ENST00000354297.4	+	3	335	c.264T>C	c.(262-264)ctT>ctC	p.L88L	BPIFA1_ENST00000375413.4_Silent_p.L88L|BPIFA1_ENST00000375422.2_Silent_p.L88L	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	88					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.L88L(1)									GTGGCCTCCTTGGGGGACTGC	0.537													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17209	0.0		0.0	False		,,,				2504	0.0				p.L88L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T264C	20						.						80.0	76.0	78.0					20																	31825964		2203	4300	6503	31289625	SO:0001819	synonymous_variant	51297	exon3			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.264T>C	20.37:g.31825964T>C			31289625	NM_016583	A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	CCDS13217.1																																																																																				0.537	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	
ACSS2	55902	broad.mit.edu	37	20	33509600	33509600	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:33509600C>A	ENST00000360596.2	+	13	1690	c.1479C>A	c.(1477-1479)ttC>ttA	p.F493L	ACSS2_ENST00000336325.4_Missense_Mutation_p.F443L|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.F506L	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	493					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.F493L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTTCCCATTCTTTGGTGTAG	0.517																																					p.F493L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1479A	20						.						325.0	325.0	325.0					20																	33509600		2203	4300	6503	32973261	SO:0001583	missense	55902	exon13			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.1479C>A	20.37:g.33509600C>A	ENSP00000353804:p.Phe493Leu		32973261	NM_018677	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632397	0.67015	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.34472	1.36;1.36;1.36	5.52	2.52	0.30459	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	L	0.48174	1.505	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.45716	-0.9242	10	0.66056	D	0.02	-14.1486	9.8198	0.40876	0.0:0.6678:0.0:0.3322	.	506;493	Q5QPH3;Q9NR19	.;ACSA_HUMAN	L	443;493;491;201;506	ENSP00000337190:F443L;ENSP00000353804:F493L;ENSP00000253382:F506L	ENSP00000253382:F506L	F	+	3	2	ACSS2	32973261	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.918000	0.40006	0.905000	0.36596	0.650000	0.86243	TTC		0.517	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677	
MYH7B	57644	broad.mit.edu	37	20	33577900	33577900	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:33577900G>T	ENST00000262873.7	+	19	2069	c.1977G>T	c.(1975-1977)caG>caT	p.Q659H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	617	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q659H(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAAGTCACAGAATAGGCTCC	0.547																																					p.Q659H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1977T	20						.						90.0	99.0	96.0					20																	33577900		2114	4256	6370	33041561	SO:0001583	missense	57644	exon21			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1977G>T	20.37:g.33577900G>T	ENSP00000262873:p.Gln659His		33041561	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200911	0.58234	.	.	ENSG00000078814	ENST00000262873	T	0.72167	-0.63	4.36	2.4	0.29515	Myosin head, motor domain (2);	0.000000	0.35805	N	0.002969	T	0.70962	0.3284	L	0.54323	1.7	0.39153	D	0.962262	D	0.56287	0.975	P	0.55011	0.766	T	0.71155	-0.4675	10	0.87932	D	0	.	5.0508	0.14507	0.3177:0.1505:0.5318:0.0	.	617	A7E2Y1	MYH7B_HUMAN	H	659	ENSP00000262873:Q659H	ENSP00000262873:Q659H	Q	+	3	2	MYH7B	33041561	0.863000	0.29885	1.000000	0.80357	0.929000	0.56500	0.181000	0.16880	0.587000	0.29643	0.561000	0.74099	CAG		0.547	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
SPAG4	6676	broad.mit.edu	37	20	34207510	34207510	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:34207510T>C	ENST00000374273.3	+	10	1031	c.919T>C	c.(919-921)Ttc>Ctc	p.F307L		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	307	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.F307L(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCCCCACGTGTTCCCTGGGAA	0.662																																					p.F307L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T919C	20						.						47.0	52.0	50.0					20																	34207510		2203	4300	6503	33670924	SO:0001583	missense	6676	exon10			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.919T>C	20.37:g.34207510T>C	ENSP00000363391:p.Phe307Leu		33670924	NM_003116	O43648	Missense_Mutation	SNP	ENST00000374273.3	37	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667651	0.67814	.	.	ENSG00000061656	ENST00000374273;ENST00000454819;ENST00000430878	T;T;T	0.39229	1.09;1.09;1.09	4.56	4.56	0.56223	Sad1/UNC-like, C-terminal (2);	0.258640	0.39759	N	0.001275	T	0.28566	0.0707	N	0.24115	0.695	0.47245	D	0.999362	B;P	0.35493	0.165;0.505	B;B	0.36504	0.13;0.226	T	0.07635	-1.0762	10	0.30078	T	0.28	-0.7228	10.2271	0.43231	0.0:0.0:0.0:1.0	.	182;307	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	L	307;182;2	ENSP00000363391:F307L;ENSP00000396670:F182L;ENSP00000399231:F2L	ENSP00000363391:F307L	F	+	1	0	SPAG4	33670924	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	2.499000	0.45372	1.900000	0.55004	0.459000	0.35465	TTC		0.662	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116	
RBM39	9584	broad.mit.edu	37	20	34304723	34304723	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:34304723T>C	ENST00000253363.6	-	10	853	c.830A>G	c.(829-831)gAa>gGa	p.E277G	RBM39_ENST00000528062.3_Missense_Mutation_p.E255G|RBM39_ENST00000361162.6_Missense_Mutation_p.E277G|RBM39_ENST00000407261.4_Missense_Mutation_p.E120G|snoU13_ENST00000459110.1_RNA			Q14498	RBM39_HUMAN	RNA binding motif protein 39	277	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E277G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGGATACTTTCAATCTATAA	0.318																																					p.E277G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A830G	20						.						29.0	28.0	28.0					20																	34304723		2200	4298	6498	33768137	SO:0001583	missense	9584	exon10			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.830A>G	20.37:g.34304723T>C	ENSP00000253363:p.Glu277Gly		33768137	NM_004902	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468554	0.84533	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.44	4.44	0.53790	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.139405	0.64402	D	0.000004	D	0.88680	0.6502	L	0.43701	1.375	0.80722	D	1	D;D;D;D;P	0.64830	0.989;0.994;0.985;0.988;0.935	D;D;P;D;P	0.71656	0.934;0.974;0.885;0.93;0.857	D	0.89582	0.3821	10	0.62326	D	0.03	.	14.1401	0.65313	0.0:0.0:0.0:1.0	.	255;255;277;277;253	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	G	277;277;255;120	ENSP00000253363:E277G;ENSP00000354437:E277G;ENSP00000436747:E255G;ENSP00000384541:E120G	ENSP00000253363:E277G	E	-	2	0	RBM39	33768137	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.669000	0.83911	2.005000	0.58758	0.528000	0.53228	GAA		0.318	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237	
ATRN	8455	broad.mit.edu	37	20	3520891	3520891	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:3520891C>T	ENST00000262919.5	+	3	585	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	ATRN_ENST00000446916.2_Missense_Mutation_p.R173C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	173	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R173C(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AATGAGACTTCGTTTCAATCA	0.308																																					p.R173C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	20						.						151.0	150.0	150.0					20																	3520891		2203	4300	6503	3468891	SO:0001583	missense	8455	exon3			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.517C>T	20.37:g.3520891C>T	ENSP00000262919:p.Arg173Cys		3468891	NM_139322	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833050	0.91036	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.19250	2.16;2.16	5.08	5.08	0.68730	CUB (5);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.61451	-0.7060	10	0.87932	D	0	-15.675	17.4026	0.87464	0.0:1.0:0.0:0.0	.	173;173	O75882;O75882-2	ATRN_HUMAN;.	C	173;173;99	ENSP00000262919:R173C;ENSP00000416587:R173C	ENSP00000262919:R173C	R	+	1	0	ATRN	3468891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.550000	0.53691	2.625000	0.88918	0.650000	0.86243	CGT		0.308	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
EPB41L1	2036	broad.mit.edu	37	20	34776284	34776284	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:34776284G>A	ENST00000338074.2	+	9	1050	c.889G>A	c.(889-891)Gac>Aac	p.D297N	EPB41L1_ENST00000373946.3_Missense_Mutation_p.D266N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.D297N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.D235N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.D200N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.D235N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	297	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.D297N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGAGGGCATCGACATCATGTT	0.577																																					p.D297N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G889A	20						.						151.0	140.0	143.0					20																	34776284		2203	4300	6503	34239698	SO:0001583	missense	2036	exon9			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.889G>A	20.37:g.34776284G>A	ENSP00000337168:p.Asp297Asn		34239698	NM_012156	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.726702	0.96847	.	.	ENSG00000088367	ENST00000202028;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;T;D;D;D;D;D	0.83163	-1.69;-1.28;-1.69;-1.69;-1.69;-1.69;-1.69	5.75	5.75	0.90469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.91603	0.7347	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	0.985;1.0;0.991;1.0;0.999;0.997	P;D;P;D;D;P	0.67725	0.828;0.938;0.646;0.917;0.953;0.784	D	0.92296	0.5845	9	0.87932	D	0	.	18.5116	0.90918	0.0:0.0:1.0:0.0	.	297;297;266;200;200;235	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	N	235;235;200;297;200;235;266;297;297	ENSP00000202028:D235N;ENSP00000404341:D235N;ENSP00000363061:D200N;ENSP00000399214:D235N;ENSP00000363057:D266N;ENSP00000337168:D297N;ENSP00000363052:D297N	ENSP00000202028:D235N	D	+	1	0	EPB41L1	34239698	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	9.869000	0.99810	2.721000	0.93114	0.561000	0.74099	GAC		0.577	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
SOGA1	140710	broad.mit.edu	37	20	35444617	35444617	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:35444617C>A	ENST00000357779.3	-	5	840	c.514G>T	c.(514-516)Gac>Tac	p.D172Y	SOGA1_ENST00000237536.4_Missense_Mutation_p.D410Y|SOGA1_ENST00000279034.6_Missense_Mutation_p.D172Y|SOGA1_ENST00000456801.2_Missense_Mutation_p.D13Y			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	172					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D172Y(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTCATGCTGTCATTCTCCTTG	0.597																																					p.D410Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1228T	20						.						82.0	83.0	83.0					20																	35444617		2203	4296	6499	34878031	SO:0001583	missense	140710	exon5			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.514G>T	20.37:g.35444617C>A	ENSP00000350424:p.Asp172Tyr		34878031	NM_080627	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	C	22.0	4.230757	0.79688	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.32515	1.57;1.61;1.45;1.65	5.24	5.24	0.73138	.	0.284743	0.38164	N	0.001798	T	0.50735	0.1633	L	0.46157	1.445	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.49808	-0.8900	10	0.87932	D	0	-47.2681	17.7588	0.88457	0.0:1.0:0.0:0.0	.	172	O94964-4	.	Y	410;172;13;172	ENSP00000237536:D410Y;ENSP00000279034:D172Y;ENSP00000413886:D13Y;ENSP00000350424:D172Y	ENSP00000237536:D410Y	D	-	1	0	KIAA0889	34878031	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.651000	0.83577	2.723000	0.93209	0.655000	0.94253	GAC		0.597	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
RBL1	5933	broad.mit.edu	37	20	35627264	35627264	+	Silent	SNP	G	G	A	rs8114297	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:35627264G>A	ENST00000373664.3	-	22	3171	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	1035			I -> M (in dbSNP:rs8114297).		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.I1035I(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)				CATCACTATCGATGGCTATTA	0.413																																					p.I1035I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3105T	20						.						264.0	220.0	235.0					20																	35627264		2203	4300	6503	35060678	SO:0001819	synonymous_variant	5933	exon22			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.3105C>T	20.37:g.35627264G>A			35060678	NM_002895	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	CCDS13289.1																																																																																				0.413	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
CTNNBL1	56259	broad.mit.edu	37	20	36365846	36365846	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:36365846A>C	ENST00000361383.6	+	3	403	c.286A>C	c.(286-288)Aac>Cac	p.N96H	CTNNBL1_ENST00000405275.2_Missense_Mutation_p.N69H	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	96					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.N96H(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATCATATAAAAACCAAGAATT	0.398																																					p.N96H	Ovarian(184;582 2038 3273 4106 42608)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A286C	20						.						82.0	79.0	80.0					20																	36365846		2203	4300	6503	35799260	SO:0001583	missense	56259	exon3			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.286A>C	20.37:g.36365846A>C	ENSP00000355050:p.Asn96His		35799260	NM_030877	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374971	0.82573	.	.	ENSG00000132792	ENST00000361383;ENST00000447935;ENST00000405275	T;T	0.81163	-1.46;-1.45	4.88	4.88	0.63580	Domain of unknown function DUF1716, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94630	0.7821	10	0.87932	D	0	-23.7301	13.8301	0.63375	1.0:0.0:0.0:0.0	.	96;69	Q8WYA6;A2A2P1	CTBL1_HUMAN;.	H	96;69;69	ENSP00000355050:N96H;ENSP00000384355:N69H	ENSP00000355050:N96H	N	+	1	0	CTNNBL1	35799260	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.850000	0.92190	2.055000	0.61198	0.533000	0.62120	AAC		0.398	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877	
KIAA1755	85449	broad.mit.edu	37	20	36846678	36846678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:36846678C>T	ENST00000279024.4	-	12	2918	c.2647G>A	c.(2647-2649)Gca>Aca	p.A883T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	883								p.A883T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCAAATTCTGCGTGGGCTTTC	0.587																																					p.A883T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2647A	20						.						89.0	79.0	82.0					20																	36846678		2203	4300	6503	36280092	SO:0001583	missense	85449	exon12			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2647G>A	20.37:g.36846678C>T	ENSP00000279024:p.Ala883Thr		36280092	NM_001029864	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	3.830	-0.035919	0.07497	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.35048	3.41;1.33	4.91	0.636	0.17729	.	0.887861	0.09458	N	0.799396	T	0.28566	0.0707	M	0.65975	2.015	0.09310	N	1	B;P	0.51791	0.019;0.948	B;B	0.39503	0.003;0.301	T	0.22173	-1.0224	10	0.14656	T	0.56	.	4.4729	0.11720	0.0:0.4905:0.1563:0.3532	.	883;391	Q5JYT7;E9PFS1	K1755_HUMAN;.	T	883;391;182	ENSP00000279024:A883T;ENSP00000393503:A182T	ENSP00000279024:A883T	A	-	1	0	KIAA1755	36280092	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.713000	0.05007	-0.010000	0.14271	0.561000	0.74099	GCA		0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
BPI	671	broad.mit.edu	37	20	36940320	36940320	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:36940320G>A	ENST00000262865.4	+	5	682	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	198					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.R198Q(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTGCGCTTCGAAACAAGATG	0.507																																					p.R198Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593A	20						.						86.0	79.0	81.0					20																	36940320		2203	4300	6503	36373734	SO:0001583	missense	671	exon5			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.593G>A	20.37:g.36940320G>A	ENSP00000262865:p.Arg198Gln		36373734	NM_001725	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	G	7.579	0.668253	0.14776	.	.	ENSG00000101425	ENST00000262865	T	0.06068	3.35	3.49	-2.86	0.05717	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.950084	0.08621	N	0.918465	T	0.03053	0.0090	N	0.24115	0.695	0.09310	N	1	P	0.42827	0.791	B	0.26969	0.075	T	0.44360	-0.9333	10	0.32370	T	0.25	0.4001	8.6618	0.34097	0.6783:0.0:0.3217:0.0	.	198	P17213	BPI_HUMAN	Q	198	ENSP00000262865:R198Q	ENSP00000262865:R198Q	R	+	2	0	BPI	36373734	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.916000	0.04029	-0.611000	0.05709	0.505000	0.49811	CGA		0.507	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	
BPI	671	broad.mit.edu	37	20	36952351	36952351	+	Missense_Mutation	SNP	G	G	A	rs183269384		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:36952351G>A	ENST00000262865.4	+	8	937	c.848G>A	c.(847-849)cGc>cAc	p.R283H	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	283					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.R283H(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCCATGACCGCATGGTATAC	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18279	0.0		0.0	False		,,,				2504	0.0				p.R283H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G848A	20						.						119.0	99.0	106.0					20																	36952351		2203	4300	6503	36385765	SO:0001583	missense	671	exon8			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.848G>A	20.37:g.36952351G>A	ENSP00000262865:p.Arg283His		36385765	NM_001725	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	9.848|9.848	1.192805|1.192805	0.21954|0.21954	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000417318|ENST00000262865	.|T	.|0.14516	.|2.5	4.5|4.5	-5.17|-5.17	0.02849|0.02849	.|Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	.|0.707011	.|0.13737	.|N	.|0.366226	T|T	0.07369|0.07369	0.0186|0.0186	L|L	0.35542|0.35542	1.07|1.07	0.09310|0.09310	N|N	1|1	.|B	.|0.15719	.|0.014	.|B	.|0.09377	.|0.004	T|T	0.21109|0.21109	-1.0255|-1.0255	5|10	.|0.33141	.|T	.|0.24	-1.7424|-1.7424	4.8734|4.8734	0.13644|0.13644	0.4115:0.0:0.2885:0.3|0.4115:0.0:0.2885:0.3	.|.	.|283	.|P17213	.|BPI_HUMAN	T|H	109|283	.|ENSP00000262865:R283H	.|ENSP00000262865:R283H	A|R	+|+	1|2	0|0	BPI|BPI	36385765|36385765	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.138000|0.138000	0.21146|0.21146	-0.513000|-0.513000	0.06305|0.06305	-1.649000|-1.649000	0.01508|0.01508	-0.797000|-0.797000	0.03246|0.03246	GCA|CGC		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	
ACTR5	79913	broad.mit.edu	37	20	37378808	37378808	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:37378808G>T	ENST00000243903.4	+	2	568	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	177					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)		p.K177N(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				ATAAGCCAAAGAACTCGATGT	0.458																																					p.K177N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G531T	20						.						146.0	132.0	137.0					20																	37378808		2203	4300	6503	36812222	SO:0001583	missense	79913	exon2			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.531G>T	20.37:g.37378808G>T	ENSP00000243903:p.Lys177Asn		36812222	NM_024855	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979555	0.18812	.	.	ENSG00000101442	ENST00000243903	D	0.94417	-3.42	4.4	2.39	0.29439	.	0.768149	0.12752	N	0.442121	D	0.88366	0.6417	L	0.28054	0.825	0.09310	N	0.999996	B	0.09022	0.002	B	0.12156	0.007	T	0.76348	-0.2992	10	0.21540	T	0.41	-23.8444	9.2576	0.37593	0.1765:0.0:0.8235:0.0	.	177	Q9H9F9	ARP5_HUMAN	N	177	ENSP00000243903:K177N	ENSP00000243903:K177N	K	+	3	2	ACTR5	36812222	1.000000	0.71417	0.656000	0.29637	0.675000	0.39556	3.500000	0.53318	1.117000	0.41842	0.467000	0.42956	AAG		0.458	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
RNF24	11237	broad.mit.edu	37	20	3914823	3914823	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:3914823G>A	ENST00000336095.6	-	6	585	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	RNF24_ENST00000545616.2_Missense_Mutation_p.R133C|RNF24_ENST00000358395.6_Missense_Mutation_p.R112C|RNF24_ENST00000432261.2_Missense_Mutation_p.R133C	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	112						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R112C(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2						CACACTTTACGAACCTCCAGC	0.572																																					p.R112C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C334T	20						.						70.0	66.0	68.0					20																	3914823		2203	4300	6503	3862823	SO:0001583	missense	11237	exon6			AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.334C>T	20.37:g.3914823G>A	ENSP00000336753:p.Arg112Cys		3862823	NM_001134337	D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288870	0.80914	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.79	5.79	0.91817	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	0.57681	0.2070	L	0.39326	1.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.931;0.993	T	0.58216	-0.7675	10	0.87932	D	0	-14.4259	17.5288	0.87808	0.0:0.0:1.0:0.0	.	133;112	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	C	112;112;133;133	ENSP00000336753:R112C;ENSP00000351166:R112C;ENSP00000444711:R133C;ENSP00000388550:R133C	ENSP00000336753:R112C	R	-	1	0	RNF24	3862823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.254000	0.65457	2.735000	0.93741	0.591000	0.81541	CGT		0.572	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2		
DHX35	60625	broad.mit.edu	37	20	37638971	37638971	+	Missense_Mutation	SNP	G	G	A	rs143299906		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:37638971G>A	ENST00000252011.3	+	13	1304	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	DHX35_ENST00000373323.4_Missense_Mutation_p.R393H|DHX35_ENST00000373325.2_Missense_Mutation_p.R424H	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	424	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.R424H(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGATGCAGCGTAGTAATTTG	0.483																																					p.R393H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1178A	20						.						182.0	155.0	164.0					20																	37638971		2203	4300	6503	37072385	SO:0001583	missense	60625	exon12			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1271G>A	20.37:g.37638971G>A	ENSP00000252011:p.Arg424His		37072385	NM_001190809	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357437	0.95854	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323	T;T;T	0.03441	3.93;3.93;3.93	5.1	5.1	0.69264	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47971	-0.9075	10	0.87932	D	0	.	18.8846	0.92370	0.0:0.0:1.0:0.0	.	393;424	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	H	424;424;393	ENSP00000362422:R424H;ENSP00000252011:R424H;ENSP00000362420:R393H	ENSP00000252011:R424H	R	+	2	0	DHX35	37072385	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.813000	0.99286	2.530000	0.85305	0.563000	0.77884	CGT		0.483	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	
TOP1	7150	broad.mit.edu	37	20	39704921	39704921	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:39704921G>A	ENST00000361337.2	+	4	516	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	89	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.R89Q(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	aaggaaaaacgaaaaGAGGAA	0.368			T	NUP98	AML*																																p.R89Q			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G266A	20						.						126.0	126.0	126.0					20																	39704921		2203	4300	6503	39138335	SO:0001583	missense	7150	exon4				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.266G>A	20.37:g.39704921G>A	ENSP00000354522:p.Arg89Gln		39138335	NM_003286	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098229	0.56183	.	.	ENSG00000198900	ENST00000361337	T	0.22539	1.95	5.11	5.11	0.69529	.	0.425535	0.24350	N	0.039281	T	0.22781	0.0550	L	0.29908	0.895	0.53005	D	0.999968	P	0.50369	0.934	P	0.49528	0.614	T	0.00423	-1.1748	10	0.31617	T	0.26	0.1703	14.2251	0.65853	0.0:0.0:1.0:0.0	.	89	P11387	TOP1_HUMAN	Q	89	ENSP00000354522:R89Q	ENSP00000354522:R89Q	R	+	2	0	TOP1	39138335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.177000	0.58276	2.826000	0.97356	0.655000	0.94253	CGA		0.368	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		
LPIN3	64900	broad.mit.edu	37	20	39974594	39974594	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:39974594C>A	ENST00000373257.3	+	2	242	c.151C>A	c.(151-153)Cgt>Agt	p.R51S		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	51	N-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R51S(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTTCCACGTGCGTTTTGGCAA	0.642																																					p.R51S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C151A	20						.						94.0	83.0	87.0					20																	39974594		2203	4300	6503	39408008	SO:0001583	missense	64900	exon2			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.151C>A	20.37:g.39974594C>A	ENSP00000362354:p.Arg51Ser		39408008	NM_022896	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446977	0.96205	.	.	ENSG00000132793	ENST00000373257	D	0.86366	-2.11	5.59	5.59	0.84812	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	H	0.95187	3.635	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96771	0.9568	9	.	.	.	-21.0478	19.1931	0.93675	0.0:1.0:0.0:0.0	.	51;51	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	S	51	ENSP00000362354:R51S	.	R	+	1	0	LPIN3	39408008	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.736000	0.68597	2.624000	0.88883	0.561000	0.74099	CGT		0.642	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	
CHD6	84181	broad.mit.edu	37	20	40080527	40080527	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:40080527G>T	ENST00000373233.3	-	22	3639	c.3462C>A	c.(3460-3462)ttC>ttA	p.F1154L	CHD6_ENST00000309279.7_Missense_Mutation_p.F637L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1154					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.F1154L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTCCCAAATGAAACTCTTGA	0.517																																					p.F1154L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3462A	20						.						266.0	211.0	230.0					20																	40080527		2203	4300	6503	39513941	SO:0001583	missense	84181	exon22			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3462C>A	20.37:g.40080527G>T	ENSP00000362330:p.Phe1154Leu		39513941	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.582631|4.582631	0.86748|0.86748	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.93659|.	-3.26;-3.26|.	5.79|5.79	2.8|2.8	0.32819|0.32819	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|.	0.61248|.	0.2332|.	M|M	0.86651|0.86651	2.83|2.83	0.27054|0.27054	N|N	0.963725|0.963725	D|.	0.64830|.	0.994|.	D|.	0.68192|.	0.956|.	T|.	0.55573|.	-0.8120|.	10|.	0.87932|.	D|.	0|.	-18.4545|-18.4545	7.5952|7.5952	0.28044|0.28044	0.3721:0.0:0.6279:0.0|0.3721:0.0:0.6279:0.0	.|.	1154|.	Q8TD26|.	CHD6_HUMAN|.	L|X	1154;637|340	ENSP00000362330:F1154L;ENSP00000308684:F637L|.	ENSP00000308684:F637L|.	F|S	-|-	3|2	2|0	CHD6|CHD6	39513941|39513941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.178000|3.178000	0.50879|0.50879	0.776000|0.776000	0.33473|0.33473	0.650000|0.650000	0.86243|0.86243	TTC|TCA		0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
PTPRT	11122	broad.mit.edu	37	20	40730859	40730859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:40730859G>A	ENST00000373187.1	-	26	3618	c.3619C>T	c.(3619-3621)Cga>Tga	p.R1207*	PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R1210*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R1197*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R1217*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R1226*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R1216*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R1206*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1207	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.R1229*(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)				TCCATACTTCGATTCTTATCA	0.552																																					p.R1226X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3676T	20						.						78.0	82.0	81.0					20																	40730859		2146	4269	6415	40164273	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.3619C>T	20.37:g.40730859G>A	ENSP00000362283:p.Arg1207*		40164273	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	45	11.689647	0.99591	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.354	0.94404	0.0:0.0:1.0:0.0	.	.	.	.	X	1206;1207;1210;1216;1229;1217;1197	.	ENSP00000348408:R1216X	R	-	1	2	PTPRT	40164273	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	8.013000	0.88655	2.588000	0.87417	0.650000	0.86243	CGA		0.552	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
PTPRT	11122	broad.mit.edu	37	20	40944417	40944417	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:40944417G>T	ENST00000373187.1	-	12	2084	c.2085C>A	c.(2083-2085)ctC>ctA	p.L695L	PTPRT_ENST00000373193.3_Silent_p.L695L|PTPRT_ENST00000373201.1_Silent_p.L695L|PTPRT_ENST00000373184.1_Silent_p.L695L|PTPRT_ENST00000373198.4_Silent_p.L695L|PTPRT_ENST00000356100.2_Silent_p.L695L|PTPRT_ENST00000373190.1_Silent_p.L695L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	695	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.L695L(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)				TCAGGGGAGAGAGAGGAGGGT	0.493																																					p.L695L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2085A	20						.						98.0	95.0	96.0					20																	40944417		1948	4145	6093	40377831	SO:0001819	synonymous_variant	11122	exon12			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.2085C>A	20.37:g.40944417G>T			40377831	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
CSNK2A1	1457	broad.mit.edu	37	20	478371	478371	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:478371A>C	ENST00000217244.3	-	7	795	c.420T>G	c.(418-420)atT>atG	p.I140M	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.I140M|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.I4M|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.I140M	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.I140M(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTACCTTCAGAATCTCATACA	0.313																																					p.I140M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T420G	20						.						91.0	93.0	92.0					20																	478371		2203	4299	6502	426371	SO:0001583	missense	1457	exon6			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.420T>G	20.37:g.478371A>C	ENSP00000217244:p.Ile140Met		426371	NM_001895	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033679	0.75504	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.55	4.46	0.54185	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	0.72045	0.3412	L	0.49513	1.565	0.58432	D	0.999999	D	0.56035	0.974	P	0.57846	0.828	T	0.73953	-0.3820	10	0.87932	D	0	-0.1629	10.8533	0.46782	0.9268:0.0:0.0732:0.0	.	140	P68400	CSK21_HUMAN	M	140;140;140;140;4	ENSP00000383086:I140M;ENSP00000339247:I140M;ENSP00000217244:I140M;ENSP00000383076:I4M	ENSP00000217244:I140M	I	-	3	3	CSNK2A1	426371	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.135000	0.64777	1.120000	0.41904	0.482000	0.46254	ATT		0.313	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895	
OSER1	51526	broad.mit.edu	37	20	42826156	42826156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:42826156C>T	ENST00000372970.2	-	6	595	c.415G>A	c.(415-417)Gat>Aat	p.D139N	OSER1_ENST00000255174.2_Missense_Mutation_p.D139N			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	139					cellular response to hydrogen peroxide (GO:0070301)			p.D139N(1)									TGATTAGCATCGAGAGAAGTA	0.502																																					p.D139N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G415A	20						.						107.0	104.0	105.0					20																	42826156		2203	4300	6503	42259570	SO:0001583	missense	51526	exon4			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.415G>A	20.37:g.42826156C>T	ENSP00000362061:p.Asp139Asn		42259570	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345466	0.61073	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.51817	0.69;0.69	6.17	4.2	0.49525	.	0.399966	0.27319	N	0.019909	T	0.39200	0.1069	L	0.46157	1.445	0.18873	N	0.999981	B	0.22800	0.075	B	0.19946	0.027	T	0.29640	-1.0005	10	0.42905	T	0.14	-3.067	9.215	0.37342	0.0:0.7481:0.1217:0.1302	.	139	Q9NX31	CT111_HUMAN	N	139	ENSP00000255174:D139N;ENSP00000362061:D139N	ENSP00000255174:D139N	D	-	1	0	C20orf111	42259570	0.667000	0.27484	0.169000	0.22859	0.977000	0.68977	2.405000	0.44548	0.895000	0.36342	0.655000	0.94253	GAT		0.502	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470	
PABPC1L	80336	broad.mit.edu	37	20	43547826	43547826	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:43547826A>C	ENST00000217073.2	+	5	646	c.646A>C	c.(646-648)Aaa>Caa	p.K216Q	PABPC1L_ENST00000217074.4_Missense_Mutation_p.K216Q|PABPC1L_ENST00000537323.1_Missense_Mutation_p.K216Q|PABPC1L_ENST00000255136.3_Missense_Mutation_p.K216Q			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	216	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K216Q(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTTTGCAGGGAAAATGCTGAG	0.557																																					p.K216Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A646C	20						.						90.0	81.0	84.0					20																	43547826		1568	3582	5150	42981240	SO:0001583	missense	80336	exon5			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.646A>C	20.37:g.43547826A>C	ENSP00000217073:p.Lys216Gln		42981240	NM_001124756	Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664117	0.29604	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	4.84	4.84	0.62591	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.277506	0.46145	D	0.000316	D	0.86112	0.5855	L	0.45422	1.42	0.47819	D	0.999529	P	0.39131	0.661	B	0.41202	0.35	D	0.85497	0.1189	10	0.36615	T	0.2	.	14.5867	0.68331	1.0:0.0:0.0:0.0	.	216	Q4VXU2	PAP1L_HUMAN	Q	216	ENSP00000217074:K216Q;ENSP00000255136:K216Q;ENSP00000445661:K216Q;ENSP00000217073:K216Q	ENSP00000217073:K216Q	K	+	1	0	PABPC1L	42981240	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	9.107000	0.94261	2.030000	0.59900	0.460000	0.39030	AAA		0.557	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
CDH22	64405	broad.mit.edu	37	20	44839140	44839140	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:44839140G>T	ENST00000372262.3	-	6	1492	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	CDH22_ENST00000537909.1_Missense_Mutation_p.F364L|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	364	Cadherin 3. {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)	p.F364L(1)		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)				GGGGGTCCACGAACTTGTTGA	0.701																																					p.F364L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1092A	20						.						36.0	35.0	36.0					20																	44839140		2203	4299	6502	44272547	SO:0001583	missense	64405	exon6			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.1092C>A	20.37:g.44839140G>T	ENSP00000361336:p.Phe364Leu		44272547	NM_021248	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122906	0.56613	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.37058	1.22;1.22	4.17	1.41	0.22369	Cadherin (3);Cadherin-like (1);	0.122708	0.56097	D	0.000026	T	0.25680	0.0625	L	0.35414	1.06	0.36567	D	0.872775	B	0.32918	0.39	B	0.38803	0.282	T	0.12167	-1.0558	10	0.36615	T	0.2	.	5.1675	0.15094	0.6208:0.0:0.3792:0.0	.	364	Q9UJ99	CAD22_HUMAN	L	364	ENSP00000361336:F364L;ENSP00000437790:F364L	ENSP00000361336:F364L	F	-	3	2	CDH22	44272547	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.361000	0.20267	0.404000	0.25506	0.555000	0.69702	TTC		0.701	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
CDH22	64405	broad.mit.edu	37	20	44869816	44869816	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:44869816G>A	ENST00000372262.3	-	2	736	c.336C>T	c.(334-336)atC>atT	p.I112I	CDH22_ENST00000537909.1_Silent_p.I112I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	112	Cadherin 1. {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)	p.I112I(2)		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)				TCAGCTCGTCGATCAGGAAGA	0.617																																					p.I112I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C336T	20						.						78.0	67.0	71.0					20																	44869816		2203	4300	6503	44303223	SO:0001819	synonymous_variant	64405	exon2			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.336C>T	20.37:g.44869816G>A			44303223	NM_021248	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	CCDS13395.1																																																																																				0.617	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
PREX1	57580	broad.mit.edu	37	20	47364404	47364404	+	Missense_Mutation	SNP	C	C	T	rs371419352		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:47364404C>T	ENST00000371941.3	-	2	255	c.233G>A	c.(232-234)cGc>cAc	p.R78H	PREX1_ENST00000396220.1_Missense_Mutation_p.R78H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	78	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R78H(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTGCCGGATGCGATGCAGGAA	0.592																																					p.R78H												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G233A	20						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	88.0	92.0		233	4.6	1.0	20		92	0,8600		0,0,4300	no	missense	PREX1	NM_020820.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	78/1660	47364404	1,13005	2203	4300	6503	46797811	SO:0001583	missense	57580	exon2			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.233G>A	20.37:g.47364404C>T	ENSP00000361009:p.Arg78His		46797811	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824483	0.90955	2.27E-4	0.0	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.63744	-0.06;-0.06	4.58	4.58	0.56647	Dbl homology (DH) domain (5);	0.000000	0.45867	U	0.000331	T	0.76449	0.3989	L	0.58969	1.84	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.79505	-0.1776	10	0.87932	D	0	.	17.1594	0.86800	0.0:1.0:0.0:0.0	.	78	Q8TCU6	PREX1_HUMAN	H	78	ENSP00000361009:R78H;ENSP00000379522:R78H	ENSP00000361009:R78H	R	-	2	0	PREX1	46797811	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.968000	0.70413	2.377000	0.81083	0.448000	0.29417	CGC		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
RASSF2	9770	broad.mit.edu	37	20	4768358	4768358	+	Missense_Mutation	SNP	C	C	T	rs565787481		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:4768358C>T	ENST00000379400.3	-	10	929	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	RASSF2_ENST00000478553.1_Intron|RASSF2_ENST00000379376.2_Missense_Mutation_p.R245Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	245	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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.R245Q(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CTGGAGGATTCGGGCAATCAG	0.547																																					p.R245Q	Melanoma(158;1891 3343 50738)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G734A	20						.						137.0	114.0	122.0					20																	4768358		2203	4300	6503	4716358	SO:0001583	missense	9770	exon9			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.734G>A	20.37:g.4768358C>T	ENSP00000368710:p.Arg245Gln		4716358	NM_170774	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	36	5.926469	0.97110	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.15487	2.42;2.42	5.41	5.41	0.78517	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.72353	2.195	0.80722	D	1	D	0.63046	0.992	P	0.54889	0.763	T	0.02417	-1.1162	10	0.48119	T	0.1	.	17.9201	0.88963	0.0:1.0:0.0:0.0	.	245	P50749	RASF2_HUMAN	Q	245	ENSP00000368710:R245Q;ENSP00000368684:R245Q	ENSP00000368684:R245Q	R	-	2	0	RASSF2	4716358	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.247000	0.78257	2.815000	0.96918	0.561000	0.74099	CGA		0.547	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	
ARFGEF2	10564	broad.mit.edu	37	20	47604882	47604882	+	Missense_Mutation	SNP	C	C	T	rs562272956	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:47604882C>T	ENST00000371917.4	+	17	2318	c.2318C>T	c.(2317-2319)gCg>gTg	p.A773V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	773	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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.A773V(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)			TATGTCCTAGCGTATTCAATT	0.388													C|||	3	0.000599042	0.0	0.0	5008	,	,		18116	0.003		0.0	False		,,,				2504	0.0				p.A773V	Esophageal Squamous(176;1738 1974 26285 33069 35354)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2318T	20						.						83.0	69.0	74.0					20																	47604882		2203	4300	6503	47038289	SO:0001583	missense	10564	exon17			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.2318C>T	20.37:g.47604882C>T	ENSP00000360985:p.Ala773Val		47038289	NM_006420	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082006	0.94050	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.56275	0.47	5.53	5.53	0.82687	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83833	0.0253	10	0.87932	D	0	.	19.8407	0.96681	0.0:1.0:0.0:0.0	.	773	Q9Y6D5	BIG2_HUMAN	V	773	ENSP00000360985:A773V	ENSP00000360985:A773V	A	+	2	0	ARFGEF2	47038289	1.000000	0.71417	0.245000	0.24217	0.711000	0.40976	7.752000	0.85141	2.763000	0.94921	0.563000	0.77884	GCG		0.388	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
SLC23A2	9962	broad.mit.edu	37	20	4842650	4842650	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:4842650G>A	ENST00000379333.1	-	15	1960	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	SLC23A2_ENST00000424750.2_Missense_Mutation_p.S409L|SLC23A2_ENST00000338244.1_Missense_Mutation_p.S523L	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	523					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|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)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.S523L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAAGAAGATCGAAAATCCAAG	0.473																																					p.S523L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1568T	20						.						100.0	100.0	100.0					20																	4842650		2203	4300	6503	4790650	SO:0001583	missense	9962	exon15			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1568C>T	20.37:g.4842650G>A	ENSP00000368637:p.Ser523Leu		4790650	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793081	0.90453	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.22539	1.95;1.95;1.95	5.35	4.39	0.52855	.	0.228496	0.46758	D	0.000278	T	0.36524	0.0970	M	0.93808	3.46	0.58432	D	0.999999	P;B	0.36874	0.572;0.057	B;B	0.35859	0.212;0.059	T	0.50381	-0.8835	10	0.87932	D	0	-15.0572	12.8136	0.57652	0.0801:0.0:0.9199:0.0	.	409;523	B4DJZ1;Q9UGH3	.;S23A2_HUMAN	L	523;523;409	ENSP00000368637:S523L;ENSP00000344322:S523L;ENSP00000406601:S409L	ENSP00000344322:S523L	S	-	2	0	SLC23A2	4790650	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	9.476000	0.97823	1.383000	0.46405	0.462000	0.41574	TCG		0.473	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		
SLC9A8	23315	broad.mit.edu	37	20	48429471	48429471	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:48429471G>T	ENST00000361573.2	+	1	54	c.12G>T	c.(10-12)aaG>aaT	p.K4N	SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000417961.1_Missense_Mutation_p.K4N			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	4					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.K4N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGGGGAGAAGATGGCGGAAG	0.736																																					p.K4N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12T	20						.						23.0	28.0	26.0					20																	48429471		1594	2894	4488	47862878	SO:0001583	missense	23315	exon1			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.12G>T	20.37:g.48429471G>T	ENSP00000354966:p.Lys4Asn		47862878	NM_015266	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634949	0.67130	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.64803	-0.12;-0.12	5.78	4.82	0.62117	.	0.727893	0.13143	N	0.410465	T	0.54175	0.1842	N	0.08118	0	0.80722	D	1	P;P	0.45126	0.621;0.851	B;P	0.55391	0.431;0.775	T	0.38672	-0.9650	10	0.20046	T	0.44	.	11.3133	0.49377	0.0859:0.0:0.9141:0.0	.	4;4	Q9Y2E8-2;Q9Y2E8	.;SL9A8_HUMAN	N	4	ENSP00000416418:K4N;ENSP00000354966:K4N	ENSP00000354966:K4N	K	+	3	2	SLC9A8	47862878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.725000	0.38074	2.754000	0.94517	0.549000	0.68633	AAG		0.736	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	
PTPN1	5770	broad.mit.edu	37	20	49196402	49196402	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:49196402G>A	ENST00000371621.3	+	8	1201	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	PTPN1_ENST00000541713.1_Missense_Mutation_p.D270N|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	343					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)	p.D343N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	GGAGGATAAAGACTGCCCCAT	0.532											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D343N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1027A	20						.						58.0	67.0	64.0					20																	49196402		2203	4300	6503	48629809	SO:0001583	missense	5770	exon8				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1027G>A	20.37:g.49196402G>A	ENSP00000360683:p.Asp343Asn	960	48629809	NM_002827	Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347298	0.24426	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	T;T	0.04809	4.14;3.55	5.86	4.91	0.64330	.	0.540715	0.17950	N	0.156532	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.15870	0.014	T	0.45818	-0.9235	10	0.16896	T	0.51	.	9.4254	0.38576	0.0765:0.1438:0.7797:0.0	.	343	P18031	PTN1_HUMAN	N	343;270	ENSP00000360683:D343N;ENSP00000437732:D270N	ENSP00000360683:D343N	D	+	1	0	PTPN1	48629809	0.877000	0.30153	0.004000	0.12327	0.005000	0.04900	4.850000	0.62889	1.478000	0.48253	0.650000	0.86243	GAC		0.532	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2		
BCAS4	55653	broad.mit.edu	37	20	49493049	49493049	+	Missense_Mutation	SNP	G	G	A	rs564853296		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:49493049G>A	ENST00000358791.5	+	6	713	c.613G>A	c.(613-615)Gta>Ata	p.V205I	BCAS4_ENST00000609336.1_Missense_Mutation_p.V175I|BCAS4_ENST00000371608.2_Silent_p.T172T|BCAS4_ENST00000262591.5_Silent_p.T127T	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	205						cytoplasm (GO:0005737)		p.V205I(2)|p.T172T(1)		large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						TGCCCGTGACGTACGAGCTGC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		15413	0.001		0.0	False		,,,				2504	0.0				p.V205I												.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)	c.G613A	20						.						104.0	97.0	99.0					20																	49493049		2203	4300	6503	48926456	SO:0001583	missense	55653	exon6			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.613G>A	20.37:g.49493049G>A	ENSP00000351642:p.Val205Ile		48926456	NM_017843	Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	ENST00000358791.5	37	CCDS33487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.55|10.55	1.382479|1.382479	0.24944|0.24944	.|.	.|.	ENSG00000124243|ENSG00000124243	ENST00000445038|ENST00000358791	.|T	.|0.23754	.|1.89	3.99|3.99	-2.3|-2.3	0.06785|0.06785	.|.	.|302.815000	.|0.00589	.|U	.|0.000347	T|T	0.10809|0.10809	0.0264|0.0264	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.24675	.|0.109	.|B	.|0.16722	.|0.016	T|T	0.32903|0.32903	-0.9889|-0.9889	4|9	.|0.02654	.|T	.|1	.|.	9.9163|9.9163	0.41436|0.41436	0.1014:0.6596:0.239:0.0|0.1014:0.6596:0.239:0.0	.|.	.|205	.|Q8TDM0	.|BCAS4_HUMAN	H|I	102|205	.|ENSP00000351642:V205I	.|ENSP00000351642:V205I	R|V	+|+	2|1	0|0	BCAS4|BCAS4	48926456|48926456	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.614000|-3.614000	0.00414|0.00414	-0.506000|-0.506000	0.06558|0.06558	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.562	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843	
ADNP	23394	broad.mit.edu	37	20	49509362	49509362	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:49509362A>G	ENST00000396029.3	-	5	2456	c.1889T>C	c.(1888-1890)aTc>aCc	p.I630T	ADNP_ENST00000349014.3_Missense_Mutation_p.I630T|ADNP_ENST00000371602.4_Missense_Mutation_p.I630T|ADNP_ENST00000396032.3_Missense_Mutation_p.I630T	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	630					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.I630T(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCCTTTTAGGATTGAAAAGCA	0.423																																					p.I630T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1889C	20						.						161.0	162.0	162.0					20																	49509362		2203	4300	6503	48942769	SO:0001583	missense	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.1889T>C	20.37:g.49509362A>G	ENSP00000379346:p.Ile630Thr		48942769	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554919	0.27739	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	L	0.32530	0.975	0.58432	D	0.999996	D	0.53885	0.963	P	0.46208	0.507	T	0.33420	-0.9869	9	0.10636	T	0.68	-21.2483	16.1401	0.81517	1.0:0.0:0.0:0.0	.	630	Q9H2P0	ADNP_HUMAN	T	630	.	ENSP00000342905:I630T	I	-	2	0	ADNP	48942769	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.944000	0.92980	2.206000	0.71126	0.528000	0.53228	ATC		0.423	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
ADNP	23394	broad.mit.edu	37	20	49520437	49520437	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:49520437C>A	ENST00000396029.3	-	3	664	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ADNP_ENST00000349014.3_Nonsense_Mutation_p.E33*|ADNP_ENST00000371602.4_Nonsense_Mutation_p.E33*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.E33*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	33					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.E33*(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCTATATGTTCTTTACAGTAT	0.348																																					p.E33X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G97T	20						.						120.0	115.0	117.0					20																	49520437		2202	4299	6501	48953844	SO:0001587	stop_gained	23394	exon3			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.97G>T	20.37:g.49520437C>A	ENSP00000379346:p.Glu33*		48953844	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	44	10.542631	0.99424	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467	.	.	.	6.17	6.17	0.99709	.	0.043274	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.2353	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	33	.	.	E	-	1	0	ADNP	48953844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAA		0.348	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
KCNG1	3755	broad.mit.edu	37	20	49620612	49620612	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:49620612G>A	ENST00000371571.4	-	3	1791	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	502					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.F502F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGCACTTCCGAACAAGATGT	0.587																																					p.F502F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1506T	20						.						85.0	63.0	71.0					20																	49620612		2203	4300	6503	49054019	SO:0001819	synonymous_variant	3755	exon3			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1506C>T	20.37:g.49620612G>A			49054019	NM_002237	A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	CCDS13436.1																																																																																				0.587	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
ZFP64	55734	broad.mit.edu	37	20	50701669	50701669	+	Silent	SNP	C	C	T	rs374976001		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:50701669C>T	ENST00000361387.2	-	9	1425	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	ZFP64_ENST00000371523.4_Silent_p.A236A|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	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)	p.A455A(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTTGAGATTCGCCTTCATGG	0.572																																					p.A455A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1365A	20						.	C		0,4406		0,0,2203	72.0	68.0	69.0		1365	-9.1	0.7	20		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFP64	NM_199427.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		455/646	50701669	1,13005	2203	4300	6503	50135076	SO:0001819	synonymous_variant	55734	exon9			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1365G>A	20.37:g.50701669C>T			50135076	NM_199427	Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	CCDS13439.1																																																																																				0.572	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197	
PROKR2	128674	broad.mit.edu	37	20	5282877	5282877	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:5282877C>T	ENST00000217270.3	-	2	963	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PROKR2_ENST00000546004.1_Missense_Mutation_p.A322T	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	322					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.A322T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTGCTCATGGCGATGCACTCG	0.522										HNSCC(71;0.22)																											p.A322T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964A	20						.						279.0	208.0	232.0					20																	5282877		2203	4300	6503	5230877	SO:0001583	missense	128674	exon2			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.964G>A	20.37:g.5282877C>T	ENSP00000217270:p.Ala322Thr		5230877	NM_144773	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960038	0.92791	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.39229	1.09;1.09	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73448	-0.3979	10	0.87932	D	0	.	15.9064	0.79433	0.0:1.0:0.0:0.0	.	322	Q8NFJ6	PKR2_HUMAN	T	322	ENSP00000440790:A322T;ENSP00000217270:A322T	ENSP00000217270:A322T	A	-	1	0	PROKR2	5230877	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.346000	0.79347	2.370000	0.80446	0.655000	0.94253	GCC		0.522	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
ZNF217	7764	broad.mit.edu	37	20	52188349	52188349	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:52188349T>G	ENST00000371471.2	-	5	3506	c.3081A>C	c.(3079-3081)gcA>gcC	p.A1027A	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.A1027A			O75362	ZN217_HUMAN	zinc finger protein 217	1027					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.A1027A(1)		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)			TTCTCTTTTGTGCCATGCTGT	0.328																																					p.A1027A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3081C	20						.						191.0	181.0	184.0					20																	52188349		2202	4299	6501	51621756	SO:0001819	synonymous_variant	7764	exon4			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.3081A>C	20.37:g.52188349T>G			51621756	NM_006526	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																				0.328	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
CASS4	57091	broad.mit.edu	37	20	55027706	55027706	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:55027706G>A	ENST00000360314.3	+	6	1699	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	CASS4_ENST00000371336.3_Missense_Mutation_p.E492K|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	492					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.E492K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATCTGTAAGAGAATTTCTGGA	0.478																																					p.E492K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1474A	20						.						63.0	64.0	64.0					20																	55027706		2203	4300	6503	54461113	SO:0001583	missense	57091	exon5			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1474G>A	20.37:g.55027706G>A	ENSP00000353462:p.Glu492Lys		54461113	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457224	0.63401	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.27402	1.67;1.67	5.87	2.78	0.32641	Serine rich protein interaction (1);Signal transduction histidine kinase, subgroup 1, dimerisation/phosphoacceptor domain (1);	0.356915	0.32041	N	0.006664	T	0.40862	0.1134	M	0.78049	2.395	0.09310	N	1	P;B;B	0.44946	0.846;0.328;0.111	P;B;B	0.46389	0.515;0.085;0.066	T	0.33803	-0.9854	10	0.66056	D	0.02	-8.4056	11.4181	0.49965	0.0643:0.2237:0.712:0.0	.	438;492;492	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	K	492	ENSP00000353462:E492K;ENSP00000360387:E492K	ENSP00000353462:E492K	E	+	1	0	CASS4	54461113	0.718000	0.27976	0.333000	0.25482	0.994000	0.84299	1.672000	0.37523	0.444000	0.26612	0.655000	0.94253	GAA		0.478	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	
FAM209A	200232	broad.mit.edu	37	20	55099879	55099879	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:55099879A>C	ENST00000371328.3	+	1	338	c.15A>C	c.(13-15)aaA>aaC	p.K5N	FAM209A_ENST00000481560.1_Intron|GCNT7_ENST00000243913.4_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	5						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.K5N(1)									GGACGCTGAAATCGTCCCTGG	0.567																																					p.K5N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A15C	20						.						94.0	88.0	90.0					20																	55099879		2203	4287	6490	54533286	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.15A>C	20.37:g.55099879A>C	ENSP00000360379:p.Lys5Asn		54533286	NM_001012971	Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736692	0.30774	.	.	ENSG00000124103	ENST00000371328	T	0.10005	2.92	5.61	1.99	0.26369	.	0.509560	0.17847	N	0.160020	T	0.09291	0.0229	L	0.55481	1.735	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.32903	-0.9889	10	0.49607	T	0.09	-3.9822	2.2013	0.03924	0.5922:0.1643:0.0861:0.1574	.	5	Q5JX71	CT106_HUMAN	N	5	ENSP00000360379:K5N	ENSP00000360379:K5N	K	+	3	2	C20orf106	54533286	0.998000	0.40836	0.057000	0.19452	0.056000	0.15407	1.757000	0.38400	0.058000	0.16222	0.383000	0.25322	AAA		0.567	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2		
TFAP2C	7022	broad.mit.edu	37	20	55212870	55212870	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:55212870A>G	ENST00000201031.2	+	7	1397	c.1154A>G	c.(1153-1155)aAc>aGc	p.N385S	TFAP2C_ENST00000544508.1_Missense_Mutation_p.N216S	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	385	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N385S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TTGGAGACGAACATACAGAAC	0.537																																					p.N385S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1154G	20						.						110.0	99.0	103.0					20																	55212870		2203	4300	6503	54646277	SO:0001583	missense	7022	exon7				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1154A>G	20.37:g.55212870A>G	ENSP00000201031:p.Asn385Ser		54646277	NM_003222	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	7.926	0.739538	0.15642	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.96104	-3.91;-3.91	5.91	-3.76	0.04359	Transcription factor AP-2, C-terminal (1);	0.209719	0.48767	N	0.000180	D	0.85008	0.5599	N	0.10664	0.02	0.29454	N	0.858237	B	0.17852	0.024	B	0.24974	0.057	T	0.75825	-0.3181	10	0.15952	T	0.53	-28.9618	8.8529	0.35210	0.195:0.2824:0.5226:0.0	.	385	Q92754	AP2C_HUMAN	S	385;216	ENSP00000201031:N385S;ENSP00000442274:N216S	ENSP00000201031:N385S	N	+	2	0	TFAP2C	54646277	1.000000	0.71417	0.007000	0.13788	0.190000	0.23558	3.089000	0.50183	-0.325000	0.08577	-0.313000	0.08912	AAC		0.537	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222	
BMP7	655	broad.mit.edu	37	20	55803340	55803340	+	Missense_Mutation	SNP	C	C	T	rs149261355		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:55803340C>T	ENST00000395863.3	-	2	1061	c.556G>A	c.(556-558)Gac>Aac	p.D186N	BMP7_ENST00000395864.3_Missense_Mutation_p.D186N|BMP7_ENST00000450594.2_Missense_Mutation_p.D186N	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	186					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|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 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 localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.D186N(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTCTCATTGTCGAAGCGTTCC	0.547																																					p.D186N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	20						.	C	ASN/ASP	0,4406		0,0,2203	139.0	136.0	137.0		556	3.6	0.0	20	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMP7	NM_001719.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	186/432	55803340	1,13005	2203	4300	6503	55236747	SO:0001583	missense	655	exon2				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.556G>A	20.37:g.55803340C>T	ENSP00000379204:p.Asp186Asn		55236747	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.28|13.28	2.189205|2.189205	0.38707|0.38707	0.0|0.0	1.16E-4|1.16E-4	ENSG00000101144|ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594|ENST00000433911	T;T;T|.	0.64991|.	-0.13;-0.13;-0.13|.	5.63|5.63	3.56|3.56	0.40772|0.40772	Transforming growth factor-beta, N-terminal (1);|.	0.086167|.	0.85682|.	D|.	0.000000|.	T|T	0.50309|0.50309	0.1608|0.1608	L|L	0.31664|0.31664	0.95|0.95	0.53005|0.53005	D|D	0.999964|0.999964	B;B;B|.	0.34015|.	0.435;0.013;0.178|.	B;B;B|.	0.28139|.	0.024;0.015;0.086|.	T|T	0.35400|0.35400	-0.9790|-0.9790	10|5	0.10636|.	T|.	0.68|.	.|.	11.1652|11.1652	0.48539|0.48539	0.0:0.776:0.1558:0.0683|0.0:0.776:0.1558:0.0683	.|.	186;186;186|.	B1AKZ9;P18075;B1AL00|.	.;BMP7_HUMAN;.|.	N|Q	186|71	ENSP00000379204:D186N;ENSP00000379205:D186N;ENSP00000398687:D186N|.	ENSP00000379204:D186N|.	D|R	-|-	1|2	0|0	BMP7|BMP7	55236747|55236747	0.962000|0.962000	0.33011|0.33011	0.028000|0.028000	0.17463|0.17463	0.988000|0.988000	0.76386|0.76386	2.397000|2.397000	0.44477|0.44477	0.631000|0.631000	0.30412|0.30412	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.547	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
CTCFL	140690	broad.mit.edu	37	20	56093875	56093875	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:56093875C>T	ENST00000608263.1	-	4	1659	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CTCFL_ENST00000429804.3_Missense_Mutation_p.R333H|CTCFL_ENST00000243914.3_Missense_Mutation_p.R333H|CTCFL_ENST00000422869.2_Missense_Mutation_p.R333H|CTCFL_ENST00000423479.3_Missense_Mutation_p.R333H|CTCFL_ENST00000502686.2_Missense_Mutation_p.R71H|CTCFL_ENST00000608440.1_Missense_Mutation_p.R333H|CTCFL_ENST00000432255.2_Missense_Mutation_p.R333H|CTCFL_ENST00000481655.2_Missense_Mutation_p.R333H|CTCFL_ENST00000539382.1_Missense_Mutation_p.R128H|CTCFL_ENST00000433949.3_Missense_Mutation_p.R128H|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000609232.1_Missense_Mutation_p.R333H|CTCFL_ENST00000608158.1_Missense_Mutation_p.R333H|CTCFL_ENST00000371196.2_Missense_Mutation_p.R333H|CTCFL_ENST00000608425.1_Missense_Mutation_p.R333H|CTCFL_ENST00000608903.1_Missense_Mutation_p.R71H	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	333					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.R333H(1)		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)			ATGTTTATAGCGCCTGTGTCG	0.438																																					p.R333H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	20						.						179.0	158.0	165.0					20																	56093875		2203	4300	6503	55527281	SO:0001583	missense	140690	exon5				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.998G>A	20.37:g.56093875C>T	ENSP00000476783:p.Arg333His		55527281	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	19.92	3.917042	0.73098	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000723	T	0.57577	0.2063	M	0.87180	2.865	0.58432	D	0.999995	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	1.0;0.999;0.998;0.999;1.0;0.998;1.0;1.0	T	0.66740	-0.5847	10	0.87932	D	0	-26.7002	16.9368	0.86205	0.0:1.0:0.0:0.0	.	333;333;333;333;333;333;333;333	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	H	333;333;333;333;333;71;333;333;333;128;333	ENSP00000415579:R333H;ENSP00000243914:R333H;ENSP00000360239:R333H;ENSP00000415329:R333H;ENSP00000392034:R333H;ENSP00000437999:R71H;ENSP00000413713:R333H;ENSP00000403369:R333H;ENSP00000409344:R333H;ENSP00000439998:R128H;ENSP00000399061:R333H	ENSP00000243914:R333H	R	-	2	0	CTCFL	55527281	1.000000	0.71417	0.978000	0.43139	0.093000	0.18481	5.545000	0.67237	2.346000	0.79739	0.591000	0.81541	CGC		0.438	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	
ZBP1	81030	broad.mit.edu	37	20	56185393	56185393	+	Missense_Mutation	SNP	G	G	A	rs147660947	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:56185393G>A	ENST00000371173.3	-	7	1082	c.905C>T	c.(904-906)tCg>tTg	p.S302L	ZBP1_ENST00000340462.4_Missense_Mutation_p.S279L|ZBP1_ENST00000395822.3_Missense_Mutation_p.S227L|ZBP1_ENST00000343535.4_Missense_Mutation_p.S302L	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	302					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.S302L(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGCTTCAAACGAAGCTTCTGG	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17013	0.0		0.0	False		,,,				2504	0.0				p.S301L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	20						.	G	LEU/SER,LEU/SER,LEU/SER	6,4400	11.4+/-27.6	0,6,2197	122.0	135.0	130.0		902,680,905	-2.0	0.0	20	dbSNP_134	130	0,8600		0,0,4300	yes	missense,missense,missense	ZBP1	NM_001160417.1,NM_001160418.1,NM_030776.2	145,145,145	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign,benign	301/429,227/355,302/430	56185393	6,13000	2203	4300	6503	55618799	SO:0001583	missense	81030	exon7			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.905C>T	20.37:g.56185393G>A	ENSP00000360215:p.Ser302Leu		55618799	NM_001160417	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	8.014	0.758054	0.15846	0.001362	0.0	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.19250	2.77;2.16;2.78;2.75	3.98	-2.01	0.07410	.	1.660540	0.03863	N	0.274332	T	0.14313	0.0346	N	0.20986	0.625	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.30208	-0.9986	10	0.48119	T	0.1	-0.4635	6.2538	0.20861	0.3565:0.1292:0.5143:0.0	.	302;227;302	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	L	302;227;279;302;302	ENSP00000360215:S302L;ENSP00000379167:S227L;ENSP00000344954:S279L;ENSP00000340584:S302L	ENSP00000344954:S279L	S	-	2	0	ZBP1	55618799	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.177000	0.16801	-0.842000	0.04195	-2.069000	0.00389	TCG		0.612	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
ZBP1	81030	broad.mit.edu	37	20	56190090	56190090	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:56190090C>A	ENST00000371173.3	-	4	532	c.355G>T	c.(355-357)Gac>Tac	p.D119Y	ZBP1_ENST00000541799.1_Missense_Mutation_p.D119Y|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000340462.4_Missense_Mutation_p.D96Y|ZBP1_ENST00000395822.3_Missense_Mutation_p.D44Y|ZBP1_ENST00000343535.4_Missense_Mutation_p.D119Y	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	119					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.D119Y(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGACCATTGTCTTTGAGAAAC	0.552																																					p.D119Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355T	20						.						168.0	153.0	158.0					20																	56190090		2203	4300	6503	55623496	SO:0001583	missense	81030	exon4			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.355G>T	20.37:g.56190090C>A	ENSP00000360215:p.Asp119Tyr		55623496	NM_001160419	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213215	0.39102	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	3.39	1.4	0.22301	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	1.222070	0.05979	N	0.643865	T	0.51568	0.1682	N	0.14661	0.345	0.09310	N	1	D;D;D;D	0.65815	0.987;0.995;0.995;0.995	P;P;D;P	0.63597	0.693;0.879;0.916;0.879	T	0.45041	-0.9288	10	0.59425	D	0.04	-2.0573	5.6588	0.17656	0.0:0.7448:0.0:0.2552	.	119;119;44;119	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	Y	119;44;96;119;119;119	ENSP00000360215:D119Y;ENSP00000379167:D44Y;ENSP00000344954:D96Y;ENSP00000340584:D119Y;ENSP00000440552:D119Y	ENSP00000344954:D96Y	D	-	1	0	ZBP1	55623496	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.551000	0.06027	0.432000	0.26286	0.655000	0.94253	GAC		0.552	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
CDH4	1002	broad.mit.edu	37	20	60503423	60503423	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:60503423C>T	ENST00000360469.5	+	12	2035	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	CDH4_ENST00000543233.1_Silent_p.F575F	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	649	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F649F(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTACGTCTTCGAGCTGCCCT	0.657																																					p.F649F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1947T	20						.						77.0	79.0	78.0					20																	60503423		2203	4300	6503	59936818	SO:0001819	synonymous_variant	1002	exon12			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1947C>T	20.37:g.60503423C>T			59936818	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																				0.657	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
TCFL5	10732	broad.mit.edu	37	20	61488887	61488887	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:61488887G>A	ENST00000335351.3	-	4	1190	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	TCFL5_ENST00000217162.5_Silent_p.G318G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	366					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G366G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGGCACCTTCGCCCACATTCT	0.582																																					p.G366G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1098T	20						.						114.0	106.0	108.0					20																	61488887		2203	4300	6503	60959332	SO:0001819	synonymous_variant	10732	exon4			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1098C>T	20.37:g.61488887G>A			60959332	NM_006602	O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	CCDS13506.1																																																																																				0.582	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602	
YTHDF1	54915	broad.mit.edu	37	20	61828073	61828073	+	Missense_Mutation	SNP	C	C	T	rs377660170		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:61828073C>T	ENST00000370339.3	-	5	2008	c.1667G>A	c.(1666-1668)cGa>cAa	p.R556Q	YTHDF1_ENST00000370334.4_Missense_Mutation_p.R49Q|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R506Q	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	556							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.R556Q(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGTTTGTTTCGACTCTGCCG	0.448																																					p.R556Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1667A	20						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	149.0	125.0	133.0		1667	5.2	1.0	20		133	0,8600		0,0,4300	no	missense	YTHDF1	NM_017798.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	556/560	61828073	1,13005	2203	4300	6503	61298518	SO:0001583	missense	54915	exon5			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1667G>A	20.37:g.61828073C>T	ENSP00000359364:p.Arg556Gln		61298518	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186639	0.57909	2.27E-4	0.0	ENSG00000149658	ENST00000370339;ENST00000370334;ENST00000370333	T;T	0.26067	1.76;1.77	5.24	5.24	0.73138	.	.	.	.	.	T	0.45054	0.1323	L	0.56769	1.78	0.46376	D	0.999017	D	0.69078	0.997	D	0.70227	0.968	T	0.16217	-1.0410	9	0.16420	T	0.52	.	17.0162	0.86420	0.0:1.0:0.0:0.0	.	556	Q9BYJ9	YTHD1_HUMAN	Q	556;49;506	ENSP00000359364:R556Q;ENSP00000359358:R506Q	ENSP00000359358:R506Q	R	-	2	0	YTHDF1	61298518	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.614000	0.67695	2.448000	0.82819	0.561000	0.74099	CGA		0.448	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798	
KCNQ2	3785	broad.mit.edu	37	20	62046275	62046275	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:62046275C>T	ENST00000359125.2	-	13	1680	c.1506G>A	c.(1504-1506)gcG>gcA	p.A502A	KCNQ2_ENST00000344462.4_Silent_p.A472A|KCNQ2_ENST00000359689.1_Silent_p.A502A|KCNQ2_ENST00000354587.3_Silent_p.A474A|KCNQ2_ENST00000360480.3_Silent_p.A474A|KCNQ2_ENST00000357249.2_Silent_p.A484A|KCNQ2_ENST00000370224.1_Silent_p.A474A	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	502					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A502A(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTGCCGTGACGCGGCACCCT	0.672																																					p.A502A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1506A	20						.						70.0	80.0	76.0					20																	62046275		2203	4300	6503	61516719	SO:0001819	synonymous_variant	3785	exon13			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1506G>A	20.37:g.62046275C>T			61516719	NM_172107	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	CCDS13520.1																																																																																				0.672	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109	
PLCB4	5332	broad.mit.edu	37	20	9382163	9382163	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:9382163G>A	ENST00000378493.1	+	17	1552	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E513K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E513K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E513K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E513K|PLCB4_ENST00000378501.2_Missense_Mutation_p.E513K|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	513					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.E513K(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						AGCTCACCCCGAATTCAAATT	0.448																																					p.E513K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1537A	20						.						63.0	58.0	59.0					20																	9382163		2203	4300	6503	9330163	SO:0001583	missense	5332	exon17				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.1537G>A	20.37:g.9382163G>A	ENSP00000367754:p.Glu513Lys		9330163	NM_000933	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669497	0.67814	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.22539	2.17;2.14;2.18;2.18;2.17;1.95	6.08	6.08	0.98989	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.665485	0.16537	N	0.210126	T	0.18718	0.0449	N	0.22421	0.69	0.80722	D	1	B;P;D;B	0.54964	0.14;0.871;0.969;0.098	B;B;B;B	0.40636	0.027;0.104;0.335;0.005	T	0.03829	-1.1000	10	0.33940	T	0.23	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	513;360;513;513	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	513;513;513;513;513;349	ENSP00000334105:E513K;ENSP00000367734:E513K;ENSP00000278655:E513K;ENSP00000367754:E513K;ENSP00000367762:E513K;ENSP00000390616:E349K	ENSP00000278655:E513K	E	+	1	0	PLCB4	9330163	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	6.776000	0.75023	2.894000	0.99253	0.655000	0.94253	GAA		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
ANKEF1	63926	broad.mit.edu	37	20	10026268	10026268	+	Missense_Mutation	SNP	C	C	T	rs145101692		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:10026268C>T	ENST00000378380.3	+	5	1072	c.743C>T	c.(742-744)tCg>tTg	p.S248L	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.S248L|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	248							calcium ion binding (GO:0005509)	p.S248L(2)									GGGCTGATTTCGATAAATGGG	0.373																																					p.S248L												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C743T	20						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	124.0	115.0	118.0		743,743	4.0	0.7	20	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKRD5	NM_022096.4,NM_198798.1	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	248/777,248/777	10026268	1,13005	2203	4300	6503	9974268	SO:0001583	missense	63926	exon5			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.743C>T	20.37:g.10026268C>T	ENSP00000367631:p.Ser248Leu		9974268	NM_198798	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521891	0.27211	0.0	1.16E-4	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.54675	0.56;0.56	5.97	3.98	0.46160	Ankyrin repeat-containing domain (4);	0.317148	0.37530	N	0.002053	T	0.47930	0.1472	L	0.49640	1.575	0.25309	N	0.98922	B	0.28026	0.198	B	0.19391	0.025	T	0.41875	-0.9484	10	0.52906	T	0.07	-0.8032	16.4151	0.83731	0.0:0.7432:0.2568:0.0	.	248	Q9NU02	ANKR5_HUMAN	L	248	ENSP00000367644:S248L;ENSP00000367631:S248L	ENSP00000367631:S248L	S	+	2	0	ANKRD5	9974268	0.902000	0.30710	0.694000	0.30210	0.019000	0.09904	1.925000	0.40074	0.795000	0.33922	0.591000	0.81541	TCG		0.373	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
MYT1	4661	broad.mit.edu	37	20	62839225	62839225	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr20:62839225G>A	ENST00000328439.1	+	7	1040	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.E226K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E226K(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGGTCGTCGAAGTCACCAC	0.612																																					p.E226K	GBM(59;481 1041 20555 21139 33705)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G676A	20						.						37.0	39.0	38.0					20																	62839225		2203	4300	6503	62309669	SO:0001583	missense	4661	exon7			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.676G>A	20.37:g.62839225G>A	ENSP00000327465:p.Glu226Lys		62309669	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	7.369	0.626445	0.14257	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.28895	2.52;1.59	4.46	4.46	0.54185	.	0.118515	0.53938	D	0.000048	T	0.24392	0.0591	L	0.53249	1.67	0.80722	D	1	P	0.39404	0.672	B	0.25884	0.064	T	0.10543	-1.0625	10	0.46703	T	0.11	-11.0582	12.6632	0.56826	0.0833:0.0:0.9166:0.0	.	226	Q01538	MYT1_HUMAN	K	226	ENSP00000327465:E226K;ENSP00000442412:E226K	ENSP00000327465:E226K	E	+	1	0	MYT1	62309669	1.000000	0.71417	0.020000	0.16555	0.114000	0.19823	6.319000	0.72871	2.051000	0.60960	0.552000	0.68991	GAA		0.612	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
LIPI	149998	broad.mit.edu	37	21	15554168	15554168	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:15554168G>T	ENST00000536861.1	-	4	553	c.554C>A	c.(553-555)gCt>gAt	p.A185D	LIPI_ENST00000344577.2_Missense_Mutation_p.A206D			Q6XZB0	LIPI_HUMAN	lipase, member I	185					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.A206D(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)		CCTTGGCCCAGCAGGGTCAAG	0.403																																					p.A206D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C617A	21						.						80.0	76.0	78.0					21																	15554168		2203	4300	6503	14476039	SO:0001583	missense	149998	exon4			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.554C>A	21.37:g.15554168G>T	ENSP00000440381:p.Ala185Asp		14476039	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.585648|3.585648	0.66105|0.66105	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.93189|.	-3.18;-3.18|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91009|.	0.7172|.	H|H	0.98466|0.98466	4.24|4.24	0.53688|0.53688	D|D	0.999978|0.999978	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|.	0.94103|.	0.7364|.	10|.	0.87932|.	D|.	0|.	.|.	19.3027|19.3027	0.94149|0.94149	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	185;206|.	G1JSG6;Q6XZB0-2|.	.;.|.	D|X	206;185;80|64	ENSP00000343331:A206D;ENSP00000440381:A185D|.	ENSP00000343331:A206D|.	A|C	-|-	2|3	0|2	LIPI|LIPI	14476039|14476039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.318000|0.318000	0.28184|0.28184	8.714000|8.714000	0.91412|0.91412	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.403	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
NRIP1	8204	broad.mit.edu	37	21	16339912	16339912	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:16339912G>A	ENST00000400202.1	-	3	1314	c.602C>T	c.(601-603)aCg>aTg	p.T201M	NRIP1_ENST00000400199.1_Missense_Mutation_p.T201M|NRIP1_ENST00000318948.4_Missense_Mutation_p.T201M			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	201	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T201M(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGGAAGATTCGTATCAGGCTT	0.378																																					p.T201M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C602T	21						.						106.0	99.0	102.0					21																	16339912		2203	4300	6503	15261783	SO:0001583	missense	8204	exon4			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.602C>T	21.37:g.16339912G>A	ENSP00000383063:p.Thr201Met		15261783	NM_003489	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	7.426	0.637704	0.14386	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.09073	3.02;3.02;3.02	6.01	6.01	0.97437	.	0.372350	0.28958	N	0.013600	T	0.12689	0.0308	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	P	0.53861	0.736	T	0.11275	-1.0594	10	0.62326	D	0.03	-5.6889	11.7208	0.51680	0.0:0.2335:0.6419:0.1246	.	201	P48552	NRIP1_HUMAN	M	201	ENSP00000383060:T201M;ENSP00000383063:T201M;ENSP00000327213:T201M	ENSP00000327213:T201M	T	-	2	0	NRIP1	15261783	0.737000	0.28175	0.024000	0.17045	0.086000	0.17979	1.817000	0.39002	2.855000	0.98099	0.585000	0.79938	ACG		0.378	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
USP25	29761	broad.mit.edu	37	21	17250704	17250704	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:17250704G>A	ENST00000285679.6	+	24	3447	c.3078G>A	c.(3076-3078)ccG>ccA	p.P1026P	USP25_ENST00000400183.2_Silent_p.P1096P|USP25_ENST00000285681.2_Silent_p.P1058P|USP25_ENST00000351097.5_Silent_p.P421P	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1026					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.P1026P(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)		ATGAGCCACCGAAGTTACCTT	0.423																																					p.P1026P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3078A	21						.						106.0	95.0	99.0					21																	17250704		2203	4300	6503	16172575	SO:0001819	synonymous_variant	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.3078G>A	21.37:g.17250704G>A			16172575	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1																																																																																				0.423	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
TMPRSS15	5651	broad.mit.edu	37	21	19770558	19770558	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:19770558G>T	ENST00000284885.3	-	2	267	c.234C>A	c.(232-234)ctC>ctA	p.L78L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	78	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.L78L(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						AATCCACTGAGAGTTTGTCTT	0.368																																					p.L78L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C234A	21						.						77.0	79.0	79.0					21																	19770558		2203	4299	6502	18692429	SO:0001819	synonymous_variant	5651	exon2				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.234C>A	21.37:g.19770558G>T			18692429	NM_002772	Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.368	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
JAM2	58494	broad.mit.edu	37	21	27071113	27071113	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:27071113C>T	ENST00000480456.1	+	5	1069	c.519C>T	c.(517-519)atC>atT	p.I173I	JAM2_ENST00000425221.2_Silent_p.I137I|JAM2_ENST00000400532.1_Silent_p.I173I|JAM2_ENST00000312957.5_Silent_p.I173I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	173	Ig-like C2-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.I173I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGGATGGCATCCGTTTGCTAG	0.438																																					p.I173I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C519T	21						.						129.0	120.0	123.0					21																	27071113		1914	4132	6046	25992984	SO:0001819	synonymous_variant	58494	exon5			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.519C>T	21.37:g.27071113C>T			25992984	NM_021219	B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Silent	SNP	ENST00000480456.1	37	CCDS42911.1																																																																																				0.438	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1		
ADAMTS1	9510	broad.mit.edu	37	21	28210293	28210293	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:28210293T>C	ENST00000284984.3	-	9	2963	c.2509A>G	c.(2509-2511)Aaa>Gaa	p.K837E		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	837	Spacer.				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.K837E(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)		TAGGTGTATTTAATTTTAGGT	0.453																																					p.K837E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2509G	21						.						80.0	78.0	79.0					21																	28210293		2203	4300	6503	27132164	SO:0001583	missense	9510	exon9			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.2509A>G	21.37:g.28210293T>C	ENSP00000284984:p.Lys837Glu		27132164	NM_006988	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069958	0.76301	.	.	ENSG00000154734	ENST00000284984	T	0.52295	0.67	5.55	5.55	0.83447	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.51702	0.1690	L	0.60012	1.86	0.58432	D	0.999994	B	0.22541	0.071	B	0.34346	0.18	T	0.51196	-0.8736	9	0.51188	T	0.08	.	15.8689	0.79091	0.0:0.0:0.0:1.0	.	837	Q9UHI8	ATS1_HUMAN	E	837	ENSP00000284984:K837E	ENSP00000284984:K837E	K	-	1	0	ADAMTS1	27132164	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.651000	0.61447	2.333000	0.79357	0.482000	0.46254	AAA		0.453	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
ADAMTS5	11096	broad.mit.edu	37	21	28338171	28338171	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:28338171G>A	ENST00000284987.5	-	1	661	c.540C>T	c.(538-540)cgC>cgT	p.R180R		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	180					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.R180R(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						CCCCGTACACGCGCCCCTTTT	0.687																																					p.R180R	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C540T	21						.						22.0	25.0	24.0					21																	28338171		2200	4294	6494	27260042	SO:0001819	synonymous_variant	11096	exon1			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.540C>T	21.37:g.28338171G>A			27260042	NM_007038	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																				0.687	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
RWDD2B	10069	broad.mit.edu	37	21	30380774	30380774	+	Missense_Mutation	SNP	C	C	T	rs146828876	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:30380774C>T	ENST00000493196.1	-	2	336	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	79	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.R79Q(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TTTTGAAGATCGCCCCTCCAT	0.393																																					p.R79Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236A	21						.	C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	119.0	113.0	115.0		236	3.6	1.0	21	dbSNP_134	115	0,8600		0,0,4300	yes	missense	RWDD2B	NM_016940.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	79/320	30380774	3,13003	2203	4300	6503	29302645	SO:0001583	missense	10069	exon2			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.236G>A	21.37:g.30380774C>T	ENSP00000418693:p.Arg79Gln		29302645	NM_016940		Missense_Mutation	SNP	ENST00000493196.1	37	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.911985	0.72983	6.81E-4	0.0	ENSG00000156253	ENST00000493196	T	0.21734	1.99	5.49	3.62	0.41486	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.113950	0.64402	D	0.000011	T	0.13970	0.0338	L	0.44542	1.39	0.35590	D	0.806964	B	0.29646	0.253	B	0.21151	0.033	T	0.14008	-1.0488	10	0.13470	T	0.59	-23.1433	8.5814	0.33630	0.0:0.5995:0.3105:0.09	.	79	P57060	RWD2B_HUMAN	Q	79	ENSP00000418693:R79Q	ENSP00000418693:R79Q	R	-	2	0	RWDD2B	29302645	0.127000	0.22367	0.989000	0.46669	0.992000	0.81027	1.787000	0.38704	1.565000	0.49641	0.655000	0.94253	CGA		0.393	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		
USP16	10600	broad.mit.edu	37	21	30419148	30419148	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:30419148A>C	ENST00000334352.4	+	15	1748	c.1517A>C	c.(1516-1518)aAa>aCa	p.K506T	USP16_ENST00000535828.1_Missense_Mutation_p.K135T|USP16_ENST00000399975.3_Missense_Mutation_p.K505T|USP16_ENST00000399976.2_Missense_Mutation_p.K506T	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.K506T(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						GTTATGCATAAAGAATATTGT	0.338																																					p.K505T	Melanoma(92;625 1444 27493 34101 44971)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1514C	21						.						68.0	66.0	67.0					21																	30419148		2203	4300	6503	29341019	SO:0001583	missense	10600	exon14			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.1517A>C	21.37:g.30419148A>C	ENSP00000334808:p.Lys506Thr		29341019	NM_001001992		Missense_Mutation	SNP	ENST00000334352.4	37	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	2.552	-0.303742	0.05495	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.31510	3.38;3.38;3.38;1.49	5.08	2.67	0.31697	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.028200	0.07652	N	0.932144	T	0.11965	0.0291	N	0.02865	-0.47	0.22880	N	0.998619	B;B;B;B	0.14012	0.009;0.001;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.001;0.002	T	0.31861	-0.9928	10	0.23302	T	0.38	.	3.1132	0.06365	0.6359:0.1483:0.0745:0.1414	.	135;491;505;506	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	T	505;506;506;135	ENSP00000382857:K505T;ENSP00000382858:K506T;ENSP00000334808:K506T;ENSP00000442855:K135T	ENSP00000334808:K506T	K	+	2	0	USP16	29341019	0.923000	0.31300	0.007000	0.13788	0.379000	0.30106	2.133000	0.42093	0.401000	0.25424	0.533000	0.62120	AAA		0.338	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1		
CCT8	10694	broad.mit.edu	37	21	30441792	30441792	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:30441792C>T	ENST00000286788.4	-	3	389	c.183G>A	c.(181-183)gaG>gaA	p.E61E	CCT8_ENST00000540844.1_Intron|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.E42E	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	61					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)	p.E61E(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CAAACAACTTCTCCAAGTGGT	0.308																																					p.E61E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G183A	21						.						75.0	76.0	76.0					21																	30441792		2203	4292	6495	29363663	SO:0001819	synonymous_variant	10694	exon3			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.183G>A	21.37:g.30441792C>T			29363663	NM_006585	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	C	8.508	0.865799	0.17250	.	.	ENSG00000156261	ENST00000431234	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59177	-0.7503	4	.	.	.	-18.2427	11.4591	0.50199	0.0:0.8696:0.0:0.1304	.	.	.	.	K	53	.	.	R	-	2	0	CCT8	29363663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.376000	0.44292	2.651000	0.90000	0.655000	0.94253	AGA		0.308	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1		
BACH1	571	broad.mit.edu	37	21	30699652	30699652	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:30699652G>A	ENST00000399921.1	+	3	1750	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	BACH1_ENST00000286800.3_Missense_Mutation_p.D503N	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					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.D503N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CTTGGGAGACGACTCTGAGAC	0.423																																					p.D503N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1507A	21						.						122.0	110.0	114.0					21																	30699652		2203	4300	6503	29621523	SO:0001583	missense	571	exon3			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1507G>A	21.37:g.30699652G>A	ENSP00000382805:p.Asp503Asn		29621523	NM_206866	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.472532|4.472532	0.84640|0.84640	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.74315|.	-0.83;-0.83|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);|.	0.068431|.	0.64402|.	D|.	0.000015|.	T|T	0.66005|0.66005	0.2746|0.2746	L|L	0.38531|0.38531	1.155|1.155	0.52501|0.52501	D|D	0.999955|0.999955	D|.	0.63046|.	0.992|.	P|.	0.54629|.	0.757|.	T|T	0.60915|0.60915	-0.7168|-0.7168	10|5	0.59425|.	D|.	0.04|.	-25.1683|-25.1683	19.3624|19.3624	0.94446|0.94446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	503|.	O14867|.	BACH1_HUMAN|.	N|Q	503|68	ENSP00000286800:D503N;ENSP00000382805:D503N|.	ENSP00000286800:D503N|.	D|R	+|+	1|2	0|0	BACH1|BACH1	29621523|29621523	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.857000|0.857000	0.48899|0.48899	6.112000|6.112000	0.71547|0.71547	2.567000|2.567000	0.86603|0.86603	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.423	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866	
BACH1	571	broad.mit.edu	37	21	30701851	30701851	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:30701851G>A	ENST00000399921.1	+	4	1856	c.1613G>A	c.(1612-1614)cGa>cAa	p.R538Q	BACH1_ENST00000286800.3_Missense_Mutation_p.R538Q	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					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.R538Q(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TCACTGTCTCGAAATGATTTT	0.318																																					p.R538Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1613A	21						.						75.0	72.0	73.0					21																	30701851		2203	4299	6502	29623722	SO:0001583	missense	571	exon4			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1613G>A	21.37:g.30701851G>A	ENSP00000382805:p.Arg538Gln		29623722	NM_206866	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.582710|5.582710	0.96578|0.96578	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000551628|ENST00000286800;ENST00000399921	.|D;D	.|0.91945	.|-2.94;-2.94	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	.|0.000000	.|0.64402	.|D	.|0.000008	D|D	0.95456|0.95456	0.8524|0.8524	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74023	.|0.982	D|D	0.95612|0.95612	0.8673|0.8673	5|10	.|0.72032	.|D	.|0.01	-13.3532|-13.3532	19.2326|19.2326	0.93846|0.93846	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|538	.|O14867	.|BACH1_HUMAN	K|Q	32|538	.|ENSP00000286800:R538Q;ENSP00000382805:R538Q	.|ENSP00000286800:R538Q	E|R	+|+	1|2	0|0	BACH1|BACH1	29623722|29623722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.814000|9.814000	0.99346|0.99346	2.553000|2.553000	0.86117|0.86117	0.585000|0.585000	0.79938|0.79938	GAA|CGA		0.318	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866	
GRIK1	2897	broad.mit.edu	37	21	30968863	30968863	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:30968863A>G	ENST00000399907.1	-	9	1645	c.1234T>C	c.(1234-1236)Tat>Cat	p.Y412H	GRIK1_ENST00000389124.2_Missense_Mutation_p.Y412H|GRIK1_ENST00000309434.7_Missense_Mutation_p.Y414H|GRIK1_ENST00000535441.1_Missense_Mutation_p.Y414H|GRIK1_ENST00000399909.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399914.1_Intron|BACH1_ENST00000462262.1_3'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.Y412H|GRIK1-AS2_ENST00000333765.4_3'UTR|GRIK1_ENST00000472429.1_5'Flank|GRIK1_ENST00000399913.1_Missense_Mutation_p.Y412H	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	412					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.Y412H(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)	CACACTTTATACAAGTGTTTA	0.428																																					p.Y412H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1234C	21						.						142.0	142.0	142.0					21																	30968863		1869	4096	5965	29890734	SO:0001583	missense	2897	exon9				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.1234T>C	21.37:g.30968863A>G	ENSP00000382791:p.Tyr412His		29890734	NM_000830	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	A	9.372	1.070777	0.20147	.	.	ENSG00000171189	ENST00000327783;ENST00000399913;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000309434	T;T;T;T;T;T	0.11712	2.75;2.8;2.82;2.76;2.8;2.82	4.37	4.37	0.52481	.	1.177080	0.06285	N	0.698122	T	0.05410	0.0143	N	0.02916	-0.46	0.80722	D	1	B;B	0.29716	0.255;0.022	B;B	0.23574	0.047;0.018	T	0.32929	-0.9888	10	0.30854	T	0.27	.	9.6761	0.40041	0.8445:0.0:0.0:0.1555	.	412;412	E9PD61;P39086	.;GRIK1_HUMAN	H	412;412;414;412;412;414	ENSP00000327687:Y412H;ENSP00000382797:Y412H;ENSP00000446326:Y414H;ENSP00000373776:Y412H;ENSP00000382791:Y412H;ENSP00000311646:Y414H	ENSP00000311646:Y414H	Y	-	1	0	GRIK1	29890734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.260000	0.58835	2.197000	0.70478	0.528000	0.53228	TAT		0.428	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
KRTAP19-5	337972	broad.mit.edu	37	21	31874355	31874355	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:31874355G>A	ENST00000334151.2	-	1	80	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	18						intermediate filament (GO:0005882)		p.F18F(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCAGGTCATCGAAGCCTCCGT	0.582																																					p.F18F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	21						.						146.0	124.0	131.0					21																	31874355		2203	4300	6503	30796226	SO:0001819	synonymous_variant	337972	exon1			AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.54C>T	21.37:g.31874355G>A			30796226	NM_181611	A4IF22	Silent	SNP	ENST00000334151.2	37	CCDS13597.1																																																																																				0.582	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2		
TIAM1	7074	broad.mit.edu	37	21	32595821	32595821	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:32595821C>T	ENST00000286827.3	-	9	2367	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.E632E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	632					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.E632E(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						GGTTTGGCAGCTCCCCACCCT	0.502																																					p.E632E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1896A	21						.						81.0	83.0	82.0					21																	32595821		2203	4300	6503	31517692	SO:0001819	synonymous_variant	7074	exon9				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.1896G>A	21.37:g.32595821C>T			31517692	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
SCAF4	57466	broad.mit.edu	37	21	33065741	33065741	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:33065741C>T	ENST00000286835.7	-	12	1761	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.R445Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.R460Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	460						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R460Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCGAGAACGTCGATGCCGAGA	0.468																																					p.R445Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1334A	21						.						107.0	84.0	92.0					21																	33065741		2203	4300	6503	31987612	SO:0001583	missense	57466	exon11			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1379G>A	21.37:g.33065741C>T	ENSP00000286835:p.Arg460Gln		31987612	NM_001145444	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082921	0.94050	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.42900	0.96;0.96;0.96	5.2	5.2	0.72013	.	0.074988	0.52532	D	0.000063	T	0.67287	0.2877	M	0.78456	2.415	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.83275	0.992;0.968;0.996;0.992	T	0.70139	-0.4954	10	0.54805	T	0.06	-13.0999	18.7325	0.91741	0.0:1.0:0.0:0.0	.	445;460;460;460	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	Q	445;460;460	ENSP00000402377:R445Q;ENSP00000286835:R460Q;ENSP00000382703:R460Q	ENSP00000286835:R460Q	R	-	2	0	SCAF4	31987612	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.765000	0.85310	2.413000	0.81919	0.557000	0.71058	CGA		0.468	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SYNJ1	8867	broad.mit.edu	37	21	34045731	34045731	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:34045731G>A	ENST00000322229.7	-	13	1644	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	SYNJ1_ENST00000357345.3_Missense_Mutation_p.R549C|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R544C|SYNJ1_ENST00000382499.2_Missense_Mutation_p.R588C|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R588C			O43426	SYNJ1_HUMAN	synaptojanin 1	549	Catalytic. {ECO:0000255}.				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.R549C(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						GCTATGCTGCGAAATTGCTTC	0.403																																					p.R588C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1762T	21						.						125.0	118.0	121.0					21																	34045731		2203	4300	6503	32967602	SO:0001583	missense	8867	exon14			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.1645C>T	21.37:g.34045731G>A	ENSP00000322234:p.Arg549Cys		32967602	NM_003895	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110973	0.94292	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.68	5.68	0.88126	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92463	0.7607	M	0.85945	2.785	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	0.992;0.99;0.998;0.993;0.999	D	0.92995	0.6418	10	0.87932	D	0	.	19.7912	0.96458	0.0:0.0:1.0:0.0	.	544;588;549;549;549	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	C	544;549;588;588;549;544	ENSP00000371931:R544C;ENSP00000349903:R549C;ENSP00000371939:R588C;ENSP00000409667:R588C;ENSP00000322234:R549C;ENSP00000413649:R544C	ENSP00000322234:R549C	R	-	1	0	SYNJ1	32967602	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.869000	0.99810	2.694000	0.91930	0.557000	0.71058	CGC		0.403	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:34045776G>A	ENST00000322229.7	-	13	1599	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*			O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic. {ECO:0000255}.				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.R534*(2)		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						ACACATACTCGAATTTTCTTA	0.388																																					p.R573X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1717T	21						.						95.0	91.0	92.0					21																	34045776		2203	4300	6503	32967647	SO:0001587	stop_gained	8867	exon14			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.1600C>T	21.37:g.34045776G>A	ENSP00000322234:p.Arg534*		32967647	NM_003895	O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	37	6.465883	0.97590	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	.	.	.	5.25	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4524	0.75282	0.0:0.0:0.8599:0.1401	.	.	.	.	X	529;534;573;573;534;529	.	ENSP00000322234:R534X	R	-	1	2	SYNJ1	32967647	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.743000	0.62110	1.336000	0.45506	0.460000	0.39030	CGA		0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
DNAJC28	54943	broad.mit.edu	37	21	34861248	34861248	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:34861248C>T	ENST00000314399.3	-	2	891	c.453G>A	c.(451-453)gaG>gaA	p.E151E	DNAJC28_ENST00000381947.3_Silent_p.E151E|DNAJC28_ENST00000402202.1_Silent_p.E151E	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	151								p.E151E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TATAATGCTTCTCTCGTTGAG	0.368																																					p.E151E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G453A	21						.						105.0	102.0	103.0					21																	34861248		2203	4300	6503	33783118	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.453G>A	21.37:g.34861248C>T			33783118	NM_001040192	D3DSF2	Silent	SNP	ENST00000314399.3	37	CCDS13626.1																																																																																				0.368	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
SETD4	54093	broad.mit.edu	37	21	37417910	37417910	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:37417910C>T	ENST00000399215.1	-	5	2068	c.696G>A	c.(694-696)ctG>ctA	p.L232L	SETD4_ENST00000399212.1_Silent_p.L208L|SETD4_ENST00000399205.1_Silent_p.L208L|SETD4_ENST00000399207.1_Silent_p.L232L|SETD4_ENST00000399201.1_Silent_p.L208L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_Silent_p.L232L|SETD4_ENST00000332131.4_Silent_p.L232L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	232	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.L232L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCAGCAGGTCCAGGTACGGAG	0.587																																					p.L232L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G696A	21						.						73.0	62.0	66.0					21																	37417910		2203	4300	6503	36339780	SO:0001819	synonymous_variant	54093	exon6			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.696G>A	21.37:g.37417910C>T			36339780	NM_017438	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	37	CCDS13640.1																																																																																				0.587	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438	
HLCS	3141	broad.mit.edu	37	21	38302646	38302646	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:38302646C>T	ENST00000399120.1	-	6	2314	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Missense_Mutation_p.E362K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	362					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.E362K(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTAAGGACTTCGTATCTTCTA	0.458																																					p.E362K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1084A	21						.						95.0	91.0	93.0					21																	38302646		2203	4300	6503	37224516	SO:0001583	missense	3141	exon6				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1084G>A	21.37:g.38302646C>T	ENSP00000382071:p.Glu362Lys		37224516	NM_000411	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211684	0.39102	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98362	-4.89;-4.89	5.22	4.34	0.51931	.	0.158532	0.56097	D	0.000030	D	0.95815	0.8638	M	0.76574	2.34	0.45272	D	0.99827	P;P	0.44986	0.847;0.717	B;B	0.28553	0.091;0.075	D	0.94019	0.7291	10	0.33940	T	0.23	.	11.0911	0.48117	0.0:0.8482:0.0:0.1518	.	362;362	B2RAH1;P50747	.;BPL1_HUMAN	K	362	ENSP00000382071:E362K;ENSP00000338387:E362K	ENSP00000338387:E362K	E	-	1	0	HLCS	37224516	0.998000	0.40836	0.793000	0.32043	0.399000	0.30720	4.020000	0.57189	1.332000	0.45431	0.650000	0.86243	GAA		0.458	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		
DSCR3	10311	broad.mit.edu	37	21	38605679	38605679	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:38605679A>C	ENST00000309117.6	-	4	653	c.416T>G	c.(415-417)tTt>tGt	p.F139C	DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000398998.1_Missense_Mutation_p.F91C|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000476950.1_Intron|DSCR3_ENST00000288304.5_Missense_Mutation_p.F97C	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	139						nucleus (GO:0005634)		p.F139C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						GTGAACGATAAATTCACAGGT	0.458																																					p.F139C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T416G	21						.						108.0	95.0	99.0					21																	38605679		2203	4300	6503	37527549	SO:0001583	missense	10311	exon4			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.416T>G	21.37:g.38605679A>C	ENSP00000311399:p.Phe139Cys		37527549	NM_006052	B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.664657	0.88251	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000398998	T	0.11604	2.76	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.54377	-0.8303	10	0.87932	D	0	-29.5598	14.9935	0.71412	1.0:0.0:0.0:0.0	.	139	O14972	DSCR3_HUMAN	C	139;97;91	ENSP00000311399:F139C	ENSP00000288304:F97C	F	-	2	0	DSCR3	37527549	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.826000	0.92034	1.993000	0.58246	0.374000	0.22700	TTT		0.458	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1		
DYRK1A	1859	broad.mit.edu	37	21	38853010	38853010	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:38853010G>A	ENST00000398960.2	+	4	473	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	DYRK1A_ENST00000321219.8_Missense_Mutation_p.R133Q|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398956.2_Missense_Mutation_p.R133Q|DYRK1A_ENST00000338785.3_Missense_Mutation_p.R133Q|DYRK1A_ENST00000339659.4_Missense_Mutation_p.R124Q|DYRK1A_ENST00000451934.1_Missense_Mutation_p.R133Q	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	133					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.R133Q(1)		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						AAGAAGGAACGGAAGGTTTAC	0.373																																					p.R124Q	Melanoma(114;464 1602 31203 43785 45765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	21						.						147.0	143.0	145.0					21																	38853010		2203	4300	6503	37774880	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.398G>A	21.37:g.38853010G>A	ENSP00000381932:p.Arg133Gln		37774880	NM_130436	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595248	0.96602	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.57752	0.43;0.38;0.44;0.43;0.38;0.44	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	M	0.67700	2.07	0.80722	D	1	D;D;P;D;D	0.69078	0.997;0.997;0.796;0.993;0.997	D;D;B;P;D	0.66847	0.947;0.947;0.194;0.787;0.947	T	0.73814	-0.3864	10	0.72032	D	0.01	.	19.1981	0.93698	0.0:0.0:1.0:0.0	.	133;133;133;124;133	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	Q	133;124;133;133;133;133	ENSP00000342690:R133Q;ENSP00000340373:R124Q;ENSP00000319032:R133Q;ENSP00000416089:R133Q;ENSP00000381932:R133Q;ENSP00000381929:R133Q	ENSP00000319032:R133Q	R	+	2	0	DYRK1A	37774880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.803000	0.99136	2.615000	0.88500	0.655000	0.94253	CGG		0.373	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396	
BRWD1	54014	broad.mit.edu	37	21	40604127	40604127	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:40604127C>T	ENST00000333229.2	-	25	3303	c.2976G>A	c.(2974-2976)gaG>gaA	p.E992E	BRWD1_ENST00000380800.3_Silent_p.E992E|BRWD1_ENST00000342449.3_Silent_p.E992E	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	992					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.E992E(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)				TTCTCCATGGCTCCTTATTAG	0.294																																					p.E992E	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2976A	21						.						75.0	76.0	76.0					21																	40604127		2203	4299	6502	39525997	SO:0001819	synonymous_variant	54014	exon25			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.2976G>A	21.37:g.40604127C>T			39525997	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	CCDS13662.1																																																																																				0.294	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
SH3BGR	6450	broad.mit.edu	37	21	40871838	40871838	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:40871838G>T	ENST00000333634.4	+	4	669	c.591G>T	c.(589-591)aaG>aaT	p.K197N	SH3BGR_ENST00000380637.3_Missense_Mutation_p.K86N|SH3BGR_ENST00000380634.1_Missense_Mutation_p.K86N|SH3BGR_ENST00000380631.1_Missense_Mutation_p.K86N|SH3BGR_ENST00000458295.1_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	197	Glu-rich (acidic).				positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)	p.K197N(1)		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)		CCCAGGAGAAGAATGTGAGTT	0.483																																					p.K197N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G591T	21						.						122.0	111.0	115.0					21																	40871838		2203	4300	6503	39793708	SO:0001583	missense	6450	exon4				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.591G>T	21.37:g.40871838G>T	ENSP00000332513:p.Lys197Asn		39793708	NM_007341	A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	.	1.209	-0.630329	0.03610	.	.	ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000440288;ENST00000380631;ENST00000333634;ENST00000423596;ENST00000447939	T;T;T;T;T;T;T	0.67345	0.82;0.82;0.83;0.82;1.81;0.09;-0.26	4.86	2.07	0.26955	.	0.998753	0.08107	N	0.996875	T	0.49406	0.1555	N	0.24115	0.695	0.09310	N	1	B	0.23058	0.079	B	0.24269	0.052	T	0.35895	-0.9770	10	0.23302	T	0.38	.	6.1456	0.20283	0.3086:0.0:0.6914:0.0	.	197	P55822	SH3BG_HUMAN	N	86;86;86;86;197;39;30	ENSP00000370011:K86N;ENSP00000370008:K86N;ENSP00000401572:K86N;ENSP00000370005:K86N;ENSP00000332513:K197N;ENSP00000413981:K39N;ENSP00000403115:K30N	ENSP00000332513:K197N	K	+	3	2	SH3BGR	39793708	0.171000	0.23029	0.270000	0.24601	0.016000	0.09150	0.707000	0.25704	0.739000	0.32628	-0.362000	0.07510	AAG		0.483	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341	
IGSF5	150084	broad.mit.edu	37	21	41143050	41143050	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:41143050G>T	ENST00000380588.4	+	4	729	c.626G>T	c.(625-627)aGc>aTc	p.S209I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	209	Ig-like V-type 2.				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.S209I(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)				ACCCCACAGAGCAATGGGACT	0.537																																					p.S209I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G626T	21						.						76.0	72.0	73.0					21																	41143050		2203	4300	6503	40064920	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.626G>T	21.37:g.41143050G>T	ENSP00000369962:p.Ser209Ile		40064920	NM_001080444		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587577	0.66105	.	.	ENSG00000183067	ENST00000380588	T	0.10099	2.91	5.11	5.11	0.69529	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.259344	0.44483	D	0.000445	T	0.06917	0.0176	N	0.08118	0	0.24632	N	0.993617	P	0.51933	0.949	P	0.44447	0.45	T	0.20638	-1.0269	10	0.72032	D	0.01	-22.1655	9.7077	0.40225	0.1008:0.0:0.8992:0.0	.	209	Q9NSI5	IGSF5_HUMAN	I	209	ENSP00000369962:S209I	ENSP00000369962:S209I	S	+	2	0	IGSF5	40064920	0.999000	0.42202	0.967000	0.41034	0.912000	0.54170	1.831000	0.39141	2.753000	0.94483	0.650000	0.86243	AGC		0.537	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		
DSCAM	1826	broad.mit.edu	37	21	41648131	41648131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:41648131G>T	ENST00000400454.1	-	11	2726	c.2249C>A	c.(2248-2250)tCg>tAg	p.S750*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	750	Ig-like C2-type 8.				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.S750*(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)				GATCAGCAACGACCCATTGCT	0.527																																					p.S750X	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2249A	21						.						86.0	87.0	87.0					21																	41648131		2025	4215	6240	40570001	SO:0001587	stop_gained	1826	exon11			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.2249C>A	21.37:g.41648131G>T	ENSP00000383303:p.Ser750*		40570001	NM_001389	O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	40	8.350698	0.98772	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	.	.	.	X	750;502	.	ENSP00000383303:S750X	S	-	2	0	DSCAM	40570001	1.000000	0.71417	0.960000	0.40013	0.983000	0.72400	9.751000	0.98889	2.729000	0.93468	0.650000	0.86243	TCG		0.527	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
ZBTB21	49854	broad.mit.edu	37	21	43413325	43413325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:43413325C>A	ENST00000310826.5	-	3	1063	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	ZBTB21_ENST00000398505.3_Nonsense_Mutation_p.E294*|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Nonsense_Mutation_p.E294*|ZBTB21_ENST00000398511.3_Nonsense_Mutation_p.E294*	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	294					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.E294*(1)									TTGTTAGTTTCTTTTAATAGA	0.418																																					p.E294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G880T	21						.						74.0	73.0	73.0					21																	43413325		2203	4300	6503	42286394	SO:0001587	stop_gained	49854	exon3			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.880G>T	21.37:g.43413325C>A	ENSP00000308759:p.Glu294*		42286394	NM_001098403	Q5R2W1|Q5R2W2|Q6P4R0	Nonsense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	37	6.554274	0.97658	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	.	.	.	5.75	5.75	0.90469	.	0.277859	0.33834	N	0.004519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-26.5195	19.9525	0.97208	0.0:1.0:0.0:0.0	.	.	.	.	X	294	.	ENSP00000308759:E294X	E	-	1	0	ZNF295	42286394	0.324000	0.24652	0.184000	0.23157	0.777000	0.43975	1.663000	0.37429	2.719000	0.93026	0.655000	0.94253	GAA		0.418	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727	
ABCG1	9619	broad.mit.edu	37	21	43702460	43702460	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:43702460G>A	ENST00000361802.2	+	6	810	c.665G>A	c.(664-666)cGc>cAc	p.R222H	ABCG1_ENST00000343687.3_Missense_Mutation_p.R233H|ABCG1_ENST00000398437.1_Missense_Mutation_p.R368H|ABCG1_ENST00000340588.4_Missense_Mutation_p.R330H|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.R222H|ABCG1_ENST00000347800.2_Missense_Mutation_p.R219H|ABCG1_ENST00000398457.2_Missense_Mutation_p.R224H	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	222	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.R222H(1)|p.R224H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTGGTCAGCGCAAGCGCCTG	0.607																																					p.R219H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G656A	21						.						59.0	56.0	57.0					21																	43702460		2203	4300	6503	42575529	SO:0001583	missense	9619	exon6			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.665G>A	21.37:g.43702460G>A	ENSP00000354995:p.Arg222His		42575529	NM_207629	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306033	0.81247	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;D;T;T;T;T;T	0.94793	1.73;1.73;-3.52;1.73;1.73;1.73;1.73;1.73	4.44	4.44	0.53790	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.067253	0.56097	D	0.000029	D	0.98435	0.9479	H	0.98295	4.195	0.80722	D	1	P;D;D;D;D;D	0.89917	0.947;1.0;0.999;1.0;1.0;0.994	P;D;D;D;D;P	0.72982	0.496;0.979;0.969;0.979;0.979;0.674	D	0.99872	1.1098	9	.	.	.	-27.0442	17.4322	0.87542	0.0:0.0:1.0:0.0	.	233;233;222;222;219;224	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	H	224;219;205;222;222;233;368;330	ENSP00000381475:R224H;ENSP00000291524:R219H;ENSP00000414541:R205H;ENSP00000381467:R222H;ENSP00000354995:R222H;ENSP00000339744:R233H;ENSP00000381464:R368H;ENSP00000343820:R330H	.	R	+	2	0	ABCG1	42575529	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	9.451000	0.97610	2.177000	0.69029	0.591000	0.81541	CGC		0.607	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	
AGPAT3	56894	broad.mit.edu	37	21	45402199	45402199	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:45402199C>T	ENST00000398063.2	+	9	1549	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	353					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R353C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTTTGGAGTTCGCAGACTGAT	0.448																																					p.R353C	Pancreas(60;623 1650 5574 52796)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1057T	21						.						146.0	159.0	155.0					21																	45402199		2203	4300	6503	44226627	SO:0001583	missense	56894	exon10			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1057C>T	21.37:g.45402199C>T	ENSP00000381140:p.Arg353Cys		44226627	NM_020132	D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978796	0.92982	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.77557	0.99;0.856	D	0.89582	0.3821	10	0.66056	D	0.02	-20.5082	17.7067	0.88310	0.0:1.0:0.0:0.0	.	373;353	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	353	ENSP00000291572:R353C;ENSP00000381138:R353C;ENSP00000332989:R353C;ENSP00000381140:R353C;ENSP00000381135:R353C;ENSP00000443510:R353C	ENSP00000291572:R353C	R	+	1	0	AGPAT3	44226627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.046000	0.64226	2.409000	0.81822	0.563000	0.77884	CGC		0.448	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132	
TRAPPC10	7109	broad.mit.edu	37	21	45499456	45499456	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:45499456C>T	ENST00000291574.4	+	12	1656	c.1481C>T	c.(1480-1482)gCt>gTt	p.A494V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	494					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.A494V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGGAAAAAGGCTCCACAAAAG	0.493																																					p.A494V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1481T	21						.						74.0	67.0	69.0					21																	45499456		2203	4300	6503	44323884	SO:0001583	missense	7109	exon12			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1481C>T	21.37:g.45499456C>T	ENSP00000291574:p.Ala494Val		44323884	NM_003274	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685420	0.47991	.	.	ENSG00000160218	ENST00000291574	T	0.75938	-0.98	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);	0.280117	0.40818	N	0.001014	T	0.55909	0.1950	N	0.08118	0	0.22581	N	0.998965	B	0.09022	0.002	B	0.04013	0.001	T	0.50684	-0.8799	10	0.45353	T	0.12	.	13.5416	0.61676	0.0:0.7186:0.2814:0.0	.	494	P48553	TPC10_HUMAN	V	494	ENSP00000291574:A494V	ENSP00000291574:A494V	A	+	2	0	TRAPPC10	44323884	0.996000	0.38824	0.997000	0.53966	0.884000	0.51177	2.866000	0.48420	2.503000	0.84419	0.591000	0.81541	GCT		0.493	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
TSPEAR	54084	broad.mit.edu	37	21	45941818	45941818	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:45941818G>A	ENST00000323084.4	-	9	1579	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.S437L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	505					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.S505L(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTAGAGGTGCGAGTGCACCTT	0.642																																					p.S505L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1514T	21						.						136.0	130.0	132.0					21																	45941818		2203	4300	6503	44766246	SO:0001583	missense	54084	exon9			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1514C>T	21.37:g.45941818G>A	ENSP00000321987:p.Ser505Leu		44766246	NM_144991		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520765	0.64747	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.19669	2.19;2.13	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58869	-0.7560	10	0.87932	D	0	-31.4136	19.0692	0.93125	0.0:0.0:1.0:0.0	.	505	Q8WU66	TSEAR_HUMAN	L	505;358;437;506	ENSP00000321987:S505L;ENSP00000381012:S437L	ENSP00000321987:S505L	S	-	2	0	TSPEAR	44766246	1.000000	0.71417	0.427000	0.26684	0.010000	0.07245	8.961000	0.93122	2.582000	0.87167	0.563000	0.77884	TCG		0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
TSPEAR	54084	broad.mit.edu	37	21	45941994	45941994	+	Splice_Site	SNP	G	G	A	rs148471285	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:45941994G>A	ENST00000323084.4	-	9	1403	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Splice_Site_p.G378G	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	446					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.G446G(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGTGGTTGTCGCCTGGAACCA	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		16947	0.0		0.0	False		,,,				2504	0.002				p.G446G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1338T	21						.	G		0,4406		0,0,2203	147.0	151.0	150.0		1338	-10.4	0.4	21	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	TSPEAR	NM_144991.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		446/670	45941994	1,13005	2203	4300	6503	44766422	SO:0001630	splice_region_variant	54084	exon9			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1337-1C>T	21.37:g.45941994G>A			44766422	NM_144991		Silent	SNP	ENST00000323084.4	37	CCDS13712.1																																																																																				0.647	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	Silent
TSPEAR	54084	broad.mit.edu	37	21	45947241	45947241	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:45947241G>A	ENST00000323084.4	-	7	1148	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TSPEAR_ENST00000397916.1_Silent_p.F293F	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	361					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.F361F(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GATATGAGACGAACTTCTCTT	0.552																																					p.F361F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1083T	21						.						275.0	254.0	261.0					21																	45947241		2203	4300	6503	44771669	SO:0001819	synonymous_variant	54084	exon7			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1083C>T	21.37:g.45947241G>A			44771669	NM_144991		Silent	SNP	ENST00000323084.4	37	CCDS13712.1																																																																																				0.552	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
TPTE	7179	broad.mit.edu	37	21	10908892	10908892	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:10908892G>T	ENST00000361285.4	-	23	1782	c.1453C>A	c.(1453-1455)Ctt>Att	p.L485I	TPTE_ENST00000298232.7_Missense_Mutation_p.L467I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L447I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	485	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.L467I(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)		TATGTAGGAAGATTCTAAAAA	0.269																																					p.L467I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1399A	21						.						84.0	81.0	82.0					21																	10908892		2203	4297	6500	9930763	SO:0001583	missense	7179	exon22			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.1453C>A	21.37:g.10908892G>T	ENSP00000355208:p.Leu485Ile		9930763	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	4.796	0.148028	0.09134	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84146	-1.81;-1.81;-1.81	2.18	1.26	0.21427	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.79610	0.4475	L	0.53561	1.675	0.37532	D	0.917968	B;B;B	0.31209	0.286;0.313;0.096	B;B;B	0.34093	0.175;0.174;0.173	T	0.74627	-0.3602	9	0.44086	T	0.13	-15.3023	6.6614	0.23016	0.0:0.0:0.4895:0.5105	.	447;467;485	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	467;485;447	ENSP00000298232:L467I;ENSP00000355208:L485I;ENSP00000344441:L447I	ENSP00000298232:L467I	L	-	1	0	TPTE	9930763	0.913000	0.31002	0.974000	0.42286	0.090000	0.18270	0.692000	0.25482	0.453000	0.26858	0.184000	0.17185	CTT		0.269	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TPTE	7179	broad.mit.edu	37	21	10951369	10951369	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:10951369A>G	ENST00000361285.4	-	10	672	c.343T>C	c.(343-345)Ttc>Ctc	p.F115L	TPTE_ENST00000298232.7_Missense_Mutation_p.F97L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F77L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	115					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.F97L(1)|p.F97I(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)		CTGTCAGTGAAAATTAGGTCG	0.318																																					p.F97L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T289C	21						.						119.0	127.0	124.0					21																	10951369		2203	4300	6503	9973240	SO:0001583	missense	7179	exon9			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.343T>C	21.37:g.10951369A>G	ENSP00000355208:p.Phe115Leu		9973240	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	2.923	-0.222766	0.06061	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97352	-4.35;-4.35;-4.35	1.8	-1.84	0.07809	.	0.777811	0.11419	U	0.565967	D	0.91355	0.7273	L	0.39898	1.24	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.004;0.004;0.002	T	0.80151	-0.1502	10	0.12103	T	0.63	-0.0044	2.6918	0.05123	0.3612:0.4089:0.0:0.2299	.	77;97;115	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	97;115;77;97	ENSP00000298232:F97L;ENSP00000355208:F115L;ENSP00000344441:F77L	ENSP00000298232:F97L	F	-	1	0	TPTE	9973240	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-3.983000	0.00320	-0.359000	0.08150	0.163000	0.16589	TTC		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
YBEY	54059	broad.mit.edu	37	21	47706981	47706981	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr21:47706981A>C	ENST00000329319.3	+	2	552	c.154A>C	c.(154-156)Aga>Cga	p.R52R	MCM3AP_ENST00000397708.1_5'Flank|YBEY_ENST00000397701.4_Silent_p.R52R|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000339195.6_Silent_p.R52R|YBEY_ENST00000397691.1_Silent_p.R52R|YBEY_ENST00000397694.1_Intron|MCM3AP_ENST00000291688.1_5'Flank	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	52					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R52R(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GCACATTAATAGAATCTACAG	0.388																																					p.R52R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A154C	21						.						80.0	78.0	78.0					21																	47706981		2203	4300	6503	46531409	SO:0001819	synonymous_variant	54059	exon2			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.154A>C	21.37:g.47706981A>C			46531409	NM_001006114	B7WPA9|B7WPF7|D3DSN2	Silent	SNP	ENST00000329319.3	37	CCDS33591.1																																																																																				0.388	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207265.1	NM_058181	
OR11H1	81061	broad.mit.edu	37	22	16449709	16449709	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:16449709G>T	ENST00000252835.4	-	1	96	c.96C>A	c.(94-96)ttC>ttA	p.F32L		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F32L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		ACTCACAAGAGAAACCTTGGA	0.413																																					p.F32L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C96A	22						.						21.0	22.0	22.0					22																	16449709		1469	3122	4591	14829709	SO:0001583	missense	81061	exon1			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.96C>A	22.37:g.16449709G>T	ENSP00000252835:p.Phe32Leu		14829709	NM_001005239	Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	g	9.062	0.994841	0.19043	.	.	ENSG00000130538	ENST00000252835	T	0.00537	6.72	2.19	-2.63	0.06133	.	0.000000	0.43747	D	0.000528	T	0.00784	0.0026	L	0.49778	1.585	0.09310	N	0.999993	D	0.56521	0.976	P	0.60949	0.881	T	0.51679	-0.8675	10	0.39692	T	0.17	.	2.7135	0.05181	0.3862:0.0:0.4073:0.2065	.	32	Q8NG94	O11H1_HUMAN	L	32	ENSP00000252835:F32L	ENSP00000252835:F32L	F	-	3	2	OR11H1	14829709	0.045000	0.20229	0.958000	0.39756	0.159000	0.22180	0.087000	0.14958	-0.476000	0.06842	-2.032000	0.00423	TTC		0.413	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239	
XKR3	150165	broad.mit.edu	37	22	17288719	17288719	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:17288719T>G	ENST00000331428.5	-	2	347	c.245A>C	c.(244-246)cAa>cCa	p.Q82P		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q82P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGATAATTTGATCCAAAAT	0.348																																					p.Q82P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A245C	22						.						85.0	80.0	82.0					22																	17288719		1833	4079	5912	15668719	SO:0001583	missense	150165	exon2			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.245A>C	22.37:g.17288719T>G	ENSP00000331704:p.Gln82Pro		15668719	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	11.79	1.744334	0.30865	.	.	ENSG00000172967	ENST00000331428	T	0.70986	-0.53	0.539	0.539	0.17156	.	0.000000	0.64402	U	0.000001	T	0.74527	0.3728	L	0.57536	1.79	0.22581	N	0.998965	D	0.60160	0.987	D	0.66196	0.942	T	0.62487	-0.6844	10	0.72032	D	0.01	.	5.4463	0.16537	0.0:1.0E-4:0.0:0.9999	.	82	Q5GH77	XKR3_HUMAN	P	82	ENSP00000331704:Q82P	ENSP00000331704:Q82P	Q	-	2	0	XKR3	15668719	0.517000	0.26226	0.027000	0.17364	0.072000	0.16883	1.256000	0.32921	0.485000	0.27652	0.246000	0.17985	CAA		0.348	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878	
CECR1	51816	broad.mit.edu	37	22	17663530	17663530	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:17663530C>A	ENST00000399839.1	-	8	1473	c.1203G>T	c.(1201-1203)aaG>aaT	p.K401N	CECR1_ENST00000449907.2_Missense_Mutation_p.K359N|CECR1_ENST00000330232.4_Missense_Mutation_p.K160N|CECR1_ENST00000262607.3_Missense_Mutation_p.K401N|CECR1_ENST00000399837.2_Missense_Mutation_p.K401N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	401					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.K401N(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGGGGATGTCCTTTTTCCAGG	0.483																																					p.K160N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G480T	22						.						190.0	178.0	182.0					22																	17663530		2203	4300	6503	16043530	SO:0001583	missense	51816	exon5			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1203G>T	22.37:g.17663530C>A	ENSP00000382733:p.Lys401Asn		16043530	NM_177405	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698757	0.15106	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	3.97	0.704	0.18121	Adenosine/AMP deaminase (1);	0.291697	0.41938	D	0.000784	D	0.90463	0.7013	L	0.45051	1.395	0.42638	D	0.993401	P;B	0.39116	0.66;0.012	B;B	0.40782	0.34;0.021	D	0.85375	0.1116	10	0.49607	T	0.09	.	8.5982	0.33729	0.0:0.7446:0.0:0.2554	.	401;160	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	401;160;401;359;401	ENSP00000382733:K401N;ENSP00000332871:K160N;ENSP00000262607:K401N;ENSP00000406443:K359N;ENSP00000382731:K401N	ENSP00000262607:K401N	K	-	3	2	CECR1	16043530	0.045000	0.20229	0.025000	0.17156	0.108000	0.19459	0.381000	0.20619	0.036000	0.15547	-0.339000	0.08088	AAG		0.483	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1		
MICAL3	57553	broad.mit.edu	37	22	18371995	18371995	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:18371995C>A	ENST00000441493.2	-	13	2048	c.1696G>T	c.(1696-1698)Gat>Tat	p.D566Y	MICAL3_ENST00000414725.2_Splice_Site_p.D566Y|MICAL3_ENST00000400561.2_Splice_Site_p.D566Y|MICAL3_ENST00000207726.7_Splice_Site_p.D566Y|MICAL3_ENST00000444520.1_Splice_Site_p.D566Y|MICAL3_ENST00000383094.3_Splice_Site_p.D566Y|MICAL3_ENST00000429452.1_Splice_Site_p.D566Y|MICAL3_ENST00000585038.1_Splice_Site_p.D566Y	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	566	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|zinc ion binding (GO:0008270)	p.D566Y(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAATCAAAATCTCTGAGAAAC	0.413																																					p.D566Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1696T	22						.						91.0	82.0	85.0					22																	18371995		1568	3582	5150	16751995	SO:0001630	splice_region_variant	57553	exon13			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1695-1G>T	22.37:g.18371995C>A			16751995	NM_001136004	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155324	0.78114	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.55	5.55	0.83447	Calponin homology domain (5);	0.046814	0.85682	D	0.000000	D	0.83677	0.5306	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.998;1.0	D;D;D;D;D	0.78314	0.972;0.987;0.981;0.981;0.991	D	0.87480	0.2420	10	0.87932	D	0	.	12.7924	0.57541	0.0:0.9253:0.0:0.0746	.	566;566;566;566;566	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	Y	566	ENSP00000416015:D566Y;ENSP00000414846:D566Y;ENSP00000383406:D566Y;ENSP00000410315:D566Y;ENSP00000391827:D566Y;ENSP00000372574:D566Y;ENSP00000207726:D566Y	ENSP00000207726:D566Y	D	-	1	0	XXbac-B461K10.4;MICAL3	16751995	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.091000	0.71406	2.620000	0.88729	0.655000	0.94253	GAT		0.413	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Missense_Mutation
CLTCL1	8218	broad.mit.edu	37	22	19241746	19241746	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:19241746C>T	ENST00000263200.10	-	3	327	c.255G>A	c.(253-255)ggG>ggA	p.G85G	CLTCL1_ENST00000353891.5_Silent_p.G85G|CLTCL1_ENST00000427926.1_Silent_p.G85G	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	85	Globular terminal domain.|WD40-like repeat 2.				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.G85G(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)					GAAGTGTCTTCCCAGCTAGTA	0.299			T	?	ALCL																																p.G85G			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G255A	22						.						54.0	52.0	53.0					22																	19241746		1811	4088	5899	17621746	SO:0001819	synonymous_variant	8218	exon3				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.255G>A	22.37:g.19241746C>T			17621746	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																				0.299	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
PI4KA	5297	broad.mit.edu	37	22	21188862	21188862	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:21188862G>A	ENST00000572273.1	-	3	411	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	PI4KA_ENST00000255882.6_Missense_Mutation_p.R119W			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	61					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.R61W(2)|p.R61R(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|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;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGCCTTTCCGAGCTGTGCTT	0.358																																					p.R61W	GBM(136;1332 1831 3115 23601 50806)											.	.	4	Substitution - Missense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)	c.C181T	22						.						149.0	156.0	153.0					22																	21188862		2203	4300	6503	19518862	SO:0001583	missense	5297	exon3			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.181C>T	22.37:g.21188862G>A	ENSP00000458238:p.Arg61Trp		19518862	NM_058004	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	14.99	2.699526	0.48307	.	.	ENSG00000241973	ENST00000255882;ENST00000449120	T	0.46451	0.87	5.16	1.67	0.24075	.	0.218842	0.38720	N	0.001588	T	0.37183	0.0994	L	0.51422	1.61	0.80722	D	1	B;D	0.69078	0.003;0.997	B;P	0.46452	0.004;0.517	T	0.12915	-1.0529	10	0.38643	T	0.18	-21.5434	8.42	0.32694	0.0731:0.0:0.6525:0.2744	.	119;61	D3DX33;P42356	.;PI4KA_HUMAN	W	61	ENSP00000402437:R61W	ENSP00000255882:R61W	R	-	1	2	PI4KA	19518862	0.768000	0.28519	1.000000	0.80357	0.999000	0.98932	0.927000	0.28818	0.711000	0.32018	0.655000	0.94253	CGG		0.358	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
SNAP29	9342	broad.mit.edu	37	22	21242113	21242113	+	Nonsense_Mutation	SNP	C	C	T	rs148156702		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:21242113C>T	ENST00000215730.7	+	5	894	c.766C>T	c.(766-768)Cga>Tga	p.R256*	AC007308.7_ENST00000608856.1_RNA	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	256	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)	p.R256*(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-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;0.000592)|Lung(15;0.0117)			AAGAAAAGTTCGACAACTCTG	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		20113	0.001		0.0	False		,,,				2504	0.0				p.R256X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)	c.C766T	22						.	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	103.0	107.0		766	4.6	1.0	22	dbSNP_134	107	0,8600		0,0,4300	yes	stop-gained	SNAP29	NM_004782.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		256/259	21242113	1,13005	2203	4300	6503	19572113	SO:0001587	stop_gained	9342	exon5			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.766C>T	22.37:g.21242113C>T	ENSP00000215730:p.Arg256*		19572113	NM_004782		Nonsense_Mutation	SNP	ENST00000215730.7	37	CCDS13784.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.3	4.393576	0.83011	2.27E-4	0.0	ENSG00000099940	ENST00000215730	.	.	.	5.63	4.61	0.57282	.	0.119411	0.56097	D	0.000023	.	.	.	.	.	.	0.40049	D	0.975754	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1623	13.9182	0.63914	0.2905:0.7095:0.0:0.0	.	.	.	.	X	256	.	ENSP00000215730:R256X	R	+	1	2	SNAP29	19572113	0.979000	0.34478	0.996000	0.52242	0.981000	0.71138	1.876000	0.39588	1.335000	0.45486	0.655000	0.94253	CGA		0.353	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782	
UBE2L3	7332	broad.mit.edu	37	22	21965222	21965222	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:21965222A>C	ENST00000342192.4	+	3	398	c.200A>C	c.(199-201)aAg>aCg	p.K67T	UBE2L3_ENST00000458578.2_Missense_Mutation_p.K125T|UBE2L3_ENST00000545681.1_Missense_Mutation_p.K35T	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	67					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)	p.K67T(1)	UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					AAACCACCGAAGATCACATTT	0.438																																					p.K67T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A200C	22						.						49.0	45.0	47.0					22																	21965222		2203	4298	6501	20295222	SO:0001583	missense	7332	exon3			AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"""Ubiquitin-conjugating enzymes E2"""	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.200A>C	22.37:g.21965222A>C	ENSP00000344259:p.Lys67Thr		20295222	NM_003347	B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Missense_Mutation	SNP	ENST00000342192.4	37	CCDS13790.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.364243	0.61513	.	.	ENSG00000185651	ENST00000458578;ENST00000342192;ENST00000545681	T;T;T	0.40225	1.04;1.04;1.04	5.43	5.43	0.79202	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.054967	0.64402	D	0.000001	T	0.57286	0.2043	M	0.76838	2.35	0.80722	D	1	B;B;B	0.27882	0.192;0.076;0.076	B;B;B	0.43536	0.249;0.423;0.423	T	0.61869	-0.6974	10	0.87932	D	0	.	13.7229	0.62740	1.0:0.0:0.0:0.0	.	35;67;67	B4DDG1;P68036;A8K4W8	.;UB2L3_HUMAN;.	T	125;67;35	ENSP00000400906:K125T;ENSP00000344259:K67T;ENSP00000445931:K35T	ENSP00000344259:K67T	K	+	2	0	UBE2L3	20295222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.176000	0.94839	2.198000	0.70561	0.533000	0.62120	AAG		0.438	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1	NM_198157	
ZNF280B	140883	broad.mit.edu	37	22	22842637	22842637	+	Missense_Mutation	SNP	C	C	T	rs201645345		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:22842637C>T	ENST00000406426.1	-	4	1829	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E363K			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	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)	p.E363K(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	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)		TGGACATTTTCGATGTGACAC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		16761	0.0		0.001	False		,,,				2504	0.0				p.E363K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1087A	22						.						137.0	126.0	130.0					22																	22842637		2203	4300	6503	21172637	SO:0001583	missense	140883	exon4			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1087G>A	22.37:g.22842637C>T	ENSP00000385998:p.Glu363Lys		21172637	NM_080764		Missense_Mutation	SNP	ENST00000406426.1	37	CCDS13799.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.08	3.296773	0.60086	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.03468	3.92;3.92	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.03178	0.0093	N	0.17631	0.505	0.40237	D	0.977919	P	0.50066	0.931	B	0.36504	0.226	T	0.54938	-0.8218	9	0.87932	D	0	-6.6835	15.8711	0.79119	0.0:1.0:0.0:0.0	.	363	Q86YH2	Z280B_HUMAN	K	363	ENSP00000385998:E363K;ENSP00000353586:E363K	ENSP00000353586:E363K	E	-	1	0	ZNF280B	21172637	1.000000	0.71417	0.981000	0.43875	0.251000	0.25915	5.134000	0.64770	2.689000	0.91719	0.655000	0.94253	GAA		0.498	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764	
SUSD2	56241	broad.mit.edu	37	22	24584250	24584250	+	Missense_Mutation	SNP	C	C	T	rs377355379|rs372778045		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:24584250C>T	ENST00000358321.3	+	14	2660	c.2399C>T	c.(2398-2400)gCg>gTg	p.A800V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	800					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A800V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GTGGTGGCGGCGGTTGCGCTC	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14866	0.0		0.0	False		,,,				2504	0.0				p.A800V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2399T	22						.						57.0	59.0	58.0					22																	24584250		2203	4299	6502	22914250	SO:0001583	missense	56241	exon14			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.2399C>T	22.37:g.24584250C>T	ENSP00000351075:p.Ala800Val		22914250	NM_019601	Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	3.015	-0.202958	0.06219	.	.	ENSG00000099994	ENST00000358321	T	0.19669	2.13	4.71	0.812	0.18744	.	0.819842	0.10591	N	0.656784	T	0.07863	0.0197	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39820	-0.9595	10	0.22109	T	0.4	-0.8894	5.1236	0.14873	0.0:0.1351:0.1641:0.7008	.	800	Q9UGT4	SUSD2_HUMAN	V	800	ENSP00000351075:A800V	ENSP00000351075:A800V	A	+	2	0	SUSD2	22914250	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.038000	0.13862	-0.122000	0.11766	-0.263000	0.10527	GCG		0.682	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601	
GGT1	2678	broad.mit.edu	37	22	25010828	25010828	+	Missense_Mutation	SNP	G	G	A	rs77018131		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	A	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:25010828G>A	ENST00000400382.1	+	6	1005	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	GGT1_ENST00000406383.2_Missense_Mutation_p.G84S|GGT1_ENST00000400380.1_Missense_Mutation_p.G84S|GGT1_ENST00000248923.4_Missense_Mutation_p.G84S|GGT1_ENST00000400383.1_Missense_Mutation_p.G84S			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	84					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G84S(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCACAGCATGGGCATCGGGGG	0.642													a|||	1	0.000199681	0.0	0.0	5008	,	,		13761	0.0		0.0	False		,,,				2504	0.001				p.G84S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	22						.						37.0	39.0	38.0					22																	25010828		2020	4166	6186	23340828	SO:0001583	missense	2678	exon6			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.250G>A	22.37:g.25010828G>A	ENSP00000383232:p.Gly84Ser		23340828	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.730880	0.89390	.	.	ENSG00000100031	ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	H	0.94771	3.58	0.58432	D	0.999996	P	0.44986	0.847	D	0.63877	0.919	T	0.70680	-0.4805	10	0.72032	D	0.01	-22.8757	15.7009	0.77541	0.0:0.0:1.0:0.0	.	84	P19440	GGT1_HUMAN	S	84	ENSP00000248923:G84S;ENSP00000389935:G84S;ENSP00000393537:G84S;ENSP00000395271:G84S;ENSP00000383232:G84S;ENSP00000415553:G84S;ENSP00000383233:G84S;ENSP00000383231:G84S;ENSP00000415024:G84S;ENSP00000417044:G84S;ENSP00000400621:G84S;ENSP00000398589:G84S;ENSP00000387796:G84S;ENSP00000385975:G84S;ENSP00000415068:G84S	ENSP00000248923:G84S	G	+	1	0	GGT1	23340828	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.412000	0.80091	2.100000	0.63781	0.555000	0.69702	GGC		0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
SGSM1	129049	broad.mit.edu	37	22	25301096	25301096	+	Silent	SNP	C	C	T	rs372280910		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:25301096C>T	ENST00000400359.4	+	22	2932	c.2925C>T	c.(2923-2925)atC>atT	p.I975I	SGSM1_ENST00000400358.4_Silent_p.I920I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	975	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.I920I(1)		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						ACATTGAGATCGGCTATGTCC	0.552																																					p.I920I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2760T	22						.	C	,,,	0,4242		0,0,2121	265.0	255.0	259.0		2925,2760,2577,2742	-4.4	0.9	22		259	1,8493		0,1,4246	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	,,,	0,1,6367	TT,TC,CC		0.0118,0.0,0.0079	,,,	975/1149,920/1094,859/1033,914/1088	25301096	1,12735	2121	4247	6368	23631096	SO:0001819	synonymous_variant	129049	exon21			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.2925C>T	22.37:g.25301096C>T			23631096	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	CCDS46674.1																																																																																				0.552	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
MYO18B	84700	broad.mit.edu	37	22	26164945	26164945	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:26164945G>T	ENST00000407587.2	+	4	1231	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	MYO18B_ENST00000536101.1_Missense_Mutation_p.Q354H|MYO18B_ENST00000335473.7_Missense_Mutation_p.Q354H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q354H(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						CTCAGACCCAGATGGAGAAGA	0.552																																					p.Q354H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1062T	22						.						34.0	37.0	36.0					22																	26164945		2095	4212	6307	24494945	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.1062G>T	22.37:g.26164945G>T	ENSP00000386096:p.Gln354His		24494945	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	g	11.23	1.576995	0.28092	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86865	-2.16;-2.16;-2.18	4.46	2.35	0.29111	.	2.388640	0.01849	N	0.035840	T	0.79435	0.4445	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28584	0.138;0.216;0.216	B;B;B	0.27608	0.037;0.081;0.081	T	0.69209	-0.5205	10	0.48119	T	0.1	.	9.6755	0.40039	0.1635:0.0:0.8365:0.0	.	354;354;354	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	H	354	ENSP00000441229:Q354H;ENSP00000334563:Q354H;ENSP00000386096:Q354H	ENSP00000334563:Q354H	Q	+	3	2	MYO18B	24494945	0.000000	0.05858	0.021000	0.16686	0.004000	0.04260	-0.059000	0.11731	2.036000	0.60181	0.486000	0.48141	CAG		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	26222414	26222414	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:26222414G>A	ENST00000407587.2	+	14	2903	c.2734G>A	c.(2734-2736)Gcc>Acc	p.A912T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A912T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A912T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	912	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A912T(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						GGAGGGGATGGCCTCGGGCCT	0.562																																					p.A912T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2734A	22						.						166.0	164.0	165.0					22																	26222414		1971	4142	6113	24552414	SO:0001583	missense	84700	exon14			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.2734G>A	22.37:g.26222414G>A	ENSP00000386096:p.Ala912Thr		24552414	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.416931	0.83449	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.81163	-1.46;-1.46;-1.46	4.37	3.35	0.38373	Myosin head, motor domain (2);	0.188690	0.45126	D	0.000394	D	0.86768	0.6012	M	0.73217	2.22	0.42088	D	0.991281	D;D;D;D	0.61697	0.979;0.99;0.985;0.988	P;D;P;P	0.65573	0.818;0.936;0.801;0.894	D	0.87180	0.2227	10	0.87932	D	0	.	11.0493	0.47878	0.0926:0.0:0.9074:0.0	.	425;912;912;912	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	912	ENSP00000441229:A912T;ENSP00000334563:A912T;ENSP00000386096:A912T	ENSP00000334563:A912T	A	+	1	0	MYO18B	24552414	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.260000	0.95568	0.833000	0.34828	0.462000	0.41574	GCC		0.562	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	26761393	26761393	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:26761393C>T	ENST00000248933.6	+	13	2750	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	SEZ6L_ENST00000360929.3_Silent_p.I821I|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000402979.1_Silent_p.I658I|SEZ6L_ENST00000411842.2_Silent_p.I82I|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000529632.2_Silent_p.I885I|SEZ6L_ENST00000404234.3_Silent_p.I885I			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	885	Sushi 5. {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)		p.I885I(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						GATACCAAATCCTGTACAAGC	0.532																																					p.I821I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2463T	22						.						121.0	109.0	113.0					22																	26761393		2203	4300	6503	25091393	SO:0001819	synonymous_variant	23544	exon12			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.2655C>T	22.37:g.26761393C>T			25091393	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																				0.532	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
SEZ6L	23544	broad.mit.edu	37	22	26771560	26771560	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:26771560G>T	ENST00000248933.6	+	15	2942	c.2847G>T	c.(2845-2847)gaG>gaT	p.E949D	SEZ6L_ENST00000360929.3_Missense_Mutation_p.E874D|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E721D|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E645D|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E873D|SEZ6L_ENST00000529632.2_Missense_Mutation_p.E938D|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E948D			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	949					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.E949D(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						CGGCAGCAGAGACGTCGCTGG	0.572																																					p.E874D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2622T	22						.						98.0	80.0	86.0					22																	26771560		2203	4300	6503	25101560	SO:0001583	missense	23544	exon13			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.2847G>T	22.37:g.26771560G>T	ENSP00000248933:p.Glu949Asp		25101560	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278621	0.59758	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.29917	1.9;2.01;2.15;1.89;1.66;1.55;1.88	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000024	T	0.40145	0.1105	N	0.21373	0.66	0.80722	D	1	D;D;P;D;D;D;D	0.71674	0.998;0.996;0.925;0.993;0.993;0.992;0.992	D;P;P;P;P;P;P	0.74674	0.984;0.817;0.561;0.826;0.826;0.817;0.817	T	0.09818	-1.0657	10	0.14252	T	0.57	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	936;938;645;873;874;948;949	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	D	948;938;874;949;873;645;721	ENSP00000384772:E948D;ENSP00000437037:E938D;ENSP00000354185:E874D;ENSP00000248933:E949D;ENSP00000342661:E873D;ENSP00000384838:E645D;ENSP00000384733:E721D	ENSP00000248933:E949D	E	+	3	2	SEZ6L	25101560	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	2.190000	0.42630	2.502000	0.84385	0.555000	0.69702	GAG		0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
MN1	4330	broad.mit.edu	37	22	28195736	28195736	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:28195736G>A	ENST00000302326.4	-	1	1750	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	266					intramembranous ossification (GO:0001957)			p.P266S(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						GCGCCCCCAGGAACCTGGCGA	0.647			T	ETV6	"""AML, meningioma"""																																p.P266S			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C796T	22						.						6.0	7.0	7.0					22																	28195736		1972	4155	6127	26525736	SO:0001583	missense	4330	exon1			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.796C>T	22.37:g.28195736G>A	ENSP00000304956:p.Pro266Ser		26525736	NM_002430	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479386	0.63849	.	.	ENSG00000169184	ENST00000302326	T	0.60171	0.21	5.19	5.19	0.71726	.	0.607330	0.16541	N	0.209954	T	0.66066	0.2752	L	0.27053	0.805	0.45883	D	0.998733	D	0.89917	1.0	D	0.71870	0.975	T	0.67496	-0.5656	10	0.54805	T	0.06	-9.9321	17.69	0.88267	0.0:0.0:1.0:0.0	.	266	Q10571	MN1_HUMAN	S	266	ENSP00000304956:P266S	ENSP00000304956:P266S	P	-	1	0	MN1	26525736	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.166000	0.50785	2.583000	0.87209	0.561000	0.74099	CCT		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
PITPNB	23760	broad.mit.edu	37	22	28292602	28292602	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:28292602T>G	ENST00000335272.5	-	6	386	c.310A>C	c.(310-312)Aaa>Caa	p.K104Q	PITPNB_ENST00000320996.10_Missense_Mutation_p.K104Q|PITPNB_ENST00000455418.3_Missense_Mutation_p.K106Q	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	104					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.K104Q(1)		large_intestine(4)|lung(3)|skin(1)	8						AAATCATCTTTCATATATTCA	0.388																																					p.K104Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A310C	22						.						80.0	75.0	76.0					22																	28292602		2202	4297	6499	26622602	SO:0001583	missense	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.310A>C	22.37:g.28292602T>G	ENSP00000334738:p.Lys104Gln		26622602	NM_012399	B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158136	0.78114	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296;ENST00000436663	T;T;T;T;T	0.50277	0.77;0.76;0.75;0.9;0.9	5.95	5.95	0.96441	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	M	0.85542	2.76	0.80722	D	1	P;B;B	0.43750	0.816;0.326;0.415	P;B;B	0.48141	0.568;0.115;0.09	T	0.67783	-0.5581	10	0.52906	T	0.07	-23.0275	15.2477	0.73517	0.0:0.0:0.0:1.0	.	106;104;104	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	Q	104;104;106;31;106	ENSP00000334738:K104Q;ENSP00000321266:K104Q;ENSP00000405179:K106Q;ENSP00000406542:K31Q;ENSP00000403675:K106Q	ENSP00000321266:K104Q	K	-	1	0	PITPNB	26622602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.807000	0.62576	2.279000	0.76181	0.533000	0.62120	AAA		0.388	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1		
XBP1	7494	broad.mit.edu	37	22	29191294	29191294	+	3'UTR	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:29191294C>T	ENST00000216037.6	-	0	1098				XBP1_ENST00000403532.3_3'UTR|XBP1_ENST00000405219.3_3'UTR|XBP1_ENST00000344347.5_Missense_Mutation_p.D334N	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)	p.D334N(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CTGTAAGCATCCAGTAGGCAG	0.502																																					p.D334N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	22						.						63.0	72.0	69.0					22																	29191294		1133	2180	3313	27521294	SO:0001624	3_prime_UTR_variant	7494	exon6			M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.*240G>A	22.37:g.29191294C>T			27521294	NM_001079539	Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	ENST00000216037.6	37	CCDS13847.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054044	0.93793	.	.	ENSG00000100219	ENST00000344347	.	.	.	5.87	5.87	0.94306	.	0.560216	0.21298	N	0.076860	D	0.83737	0.5319	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84374	0.0545	8	0.66056	D	0.02	.	19.1969	0.93693	0.0:1.0:0.0:0.0	.	334	P17861-2	.	N	334	.	ENSP00000343155:D334N	D	-	1	0	XBP1	27521294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.272000	0.78516	2.791000	0.96007	0.655000	0.94253	GAT		0.502	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080	
BPIFC	254240	broad.mit.edu	37	22	32831765	32831765	+	Missense_Mutation	SNP	C	C	T	rs369618463		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:32831765C>T	ENST00000397452.1	-	9	960	c.850G>A	c.(850-852)Gag>Aag	p.E284K	BPIFC_ENST00000432451.2_Missense_Mutation_p.E98K|BPIFC_ENST00000534972.1_Missense_Mutation_p.E8K|BPIFC_ENST00000300399.3_Missense_Mutation_p.E284K			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	284						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.E284K(1)									AAGAAATACTCGGCGATTCCA	0.488																																					p.E284K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G850A	22						.	C	LYS/GLU	0,4406		0,0,2203	82.0	84.0	83.0		850	2.5	0.9	22		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFC	NM_174932.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	284/508	32831765	1,13005	2203	4300	6503	31161765	SO:0001583	missense	254240	exon8			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.850G>A	22.37:g.32831765C>T	ENSP00000380594:p.Glu284Lys		31161765	NM_174932	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866615	0.51588	0.0	1.16E-4	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.65	2.48	0.30137	.	0.380705	0.30151	N	0.010295	T	0.15003	0.0362	M	0.63169	1.94	0.31235	N	0.695905	B;B	0.22800	0.044;0.075	B;B	0.23852	0.02;0.049	T	0.06127	-1.0844	10	0.56958	D	0.05	-4.1098	8.7019	0.34332	0.0:0.7611:0.0:0.2389	.	98;284	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	K	284;284;8;98	ENSP00000380594:E284K;ENSP00000300399:E284K;ENSP00000439123:E8K;ENSP00000408920:E98K	ENSP00000300399:E284K	E	-	1	0	BPIFC	31161765	0.037000	0.19845	0.854000	0.33618	0.983000	0.72400	0.336000	0.19823	0.350000	0.24002	0.650000	0.86243	GAG		0.488	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
FBXO7	25793	broad.mit.edu	37	22	32880054	32880054	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:32880054T>C	ENST00000266087.7	+	3	915	c.588T>C	c.(586-588)aaT>aaC	p.N196N	FBXO7_ENST00000382058.3_Silent_p.N117N|FBXO7_ENST00000397426.1_Silent_p.N82N	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	196	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.N196N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGATGCCAATGATGCCTTGA	0.433																																					p.N117N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T351C	22						.						304.0	243.0	264.0					22																	32880054		2203	4300	6503	31210054	SO:0001819	synonymous_variant	25793	exon3			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.588T>C	22.37:g.32880054T>C			31210054	NM_001033024	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	CCDS13907.1																																																																																				0.433	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		
FBXO7	25793	broad.mit.edu	37	22	32881061	32881061	+	Missense_Mutation	SNP	G	G	A	rs376214763		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:32881061G>A	ENST00000266087.7	+	4	979	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FBXO7_ENST00000382058.3_Missense_Mutation_p.E139K|FBXO7_ENST00000397426.1_Missense_Mutation_p.E104K	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	218	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.E218K(2)|p.E218*(2)|p.E139*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGGGCACCGAAGCCAAAGC	0.458																																					p.E139K												.	.	5	Substitution - Nonsense(3)|Substitution - Missense(2)	endometrium(3)|large_intestine(2)	c.G415A	22						.	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	110.0	100.0	103.0		415,652	5.6	1.0	22		103	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	FBXO7	NM_001033024.1,NM_012179.3	56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	139/444,218/523	32881061	2,13004	2203	4300	6503	31211061	SO:0001583	missense	25793	exon4			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.652G>A	22.37:g.32881061G>A	ENSP00000266087:p.Glu218Lys		31211061	NM_001033024	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438601	0.83885	0.0	2.33E-4	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.36699	1.24;1.24;1.24	5.56	5.56	0.83823	.	0.150253	0.64402	D	0.000014	T	0.64216	0.2578	M	0.81682	2.555	0.58432	D	0.99999	D;D;D	0.89917	0.969;1.0;0.997	P;D;P	0.75020	0.625;0.985;0.904	T	0.63484	-0.6627	10	0.45353	T	0.12	-21.4444	19.8835	0.96906	0.0:0.0:1.0:0.0	.	139;218;104	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	K	218;139;104	ENSP00000266087:E218K;ENSP00000371490:E139K;ENSP00000380571:E104K	ENSP00000266087:E218K	E	+	1	0	FBXO7	31211061	1.000000	0.71417	0.960000	0.40013	0.710000	0.40934	7.267000	0.78462	2.777000	0.95525	0.655000	0.94253	GAA		0.458	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		
CACNG2	10369	broad.mit.edu	37	22	36960558	36960558	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:36960558T>C	ENST00000300105.6	-	4	1793	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	271					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Y271C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCTGAGCGTGTACATGGAGAT	0.642																																					p.Y271C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A812G	22						.						71.0	72.0	72.0					22																	36960558		2203	4300	6503	35290504	SO:0001583	missense	10369	exon4			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.812A>G	22.37:g.36960558T>C	ENSP00000300105:p.Tyr271Cys		35290504	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737635	0.69304	.	.	ENSG00000166862	ENST00000300105	T	0.52295	0.67	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73129	-0.4080	10	0.87932	D	0	-16.0943	16.1604	0.81700	0.0:0.0:0.0:1.0	.	271	Q9Y698	CCG2_HUMAN	C	271	ENSP00000300105:Y271C	ENSP00000300105:Y271C	Y	-	2	0	CACNG2	35290504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.629000	0.83207	2.228000	0.72767	0.533000	0.62120	TAC		0.642	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		
C1QTNF6	114904	broad.mit.edu	37	22	37578258	37578258	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:37578258G>A	ENST00000337843.2	-	3	882	c.807C>T	c.(805-807)agC>agT	p.S269S	C1QTNF6_ENST00000397110.2_Silent_p.S269S|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.S145S|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	250					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.S269S(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAGGTGGCCGCTGAAGGTGA	0.657																																					p.S269S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807T	22						.						65.0	60.0	62.0					22																	37578258		2203	4300	6503	35908204	SO:0001819	synonymous_variant	114904	exon3			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.807C>T	22.37:g.37578258G>A			35908204	NM_182486	Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	37	CCDS13943.1																																																																																				0.657	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486	
MFNG	4242	broad.mit.edu	37	22	37876261	37876261	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:37876261G>A	ENST00000356998.3	-	3	604	c.381C>T	c.(379-381)ttC>ttT	p.F127F	MFNG_ENST00000416983.3_Silent_p.F113F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	127					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.F127F(1)		large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGAAGGTGTCGAACTCAGCAG	0.597																																					p.F113F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C339T	22						.						102.0	83.0	90.0					22																	37876261		2203	4300	6503	36206207	SO:0001819	synonymous_variant	4242	exon2			BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.381C>T	22.37:g.37876261G>A			36206207	NM_001166343	B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	CCDS13947.1																																																																																				0.597	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405	
TRIOBP	11078	broad.mit.edu	37	22	38119558	38119558	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:38119558C>T	ENST00000406386.3	+	7	1250	c.995C>T	c.(994-996)gCc>gTc	p.A332V		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	332					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.A332V(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)					ACCCCCAGGGCCTCATCTACA	0.597																																					p.A332V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C995T	22						.						140.0	158.0	152.0					22																	38119558		1923	4117	6040	36449504	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.995C>T	22.37:g.38119558C>T	ENSP00000384312:p.Ala332Val		36449504	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	11.24	1.580578	0.28180	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20069	2.1	4.29	0.689	0.18033	.	.	.	.	.	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.35101	-0.9802	9	0.24483	T	0.36	.	1.538	0.02549	0.1706:0.4686:0.1661:0.1948	.	332	Q9H2D6	TARA_HUMAN	V	332	ENSP00000384312:A332V	ENSP00000384312:A332V	A	+	2	0	TRIOBP	36449504	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.380000	0.20602	0.268000	0.21939	0.400000	0.26472	GCC		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
CSNK1E	1454	broad.mit.edu	37	22	38695925	38695925	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:38695925G>A	ENST00000396832.1	-	6	971	c.711C>T	c.(709-711)atC>atT	p.I237I	CSNK1E_ENST00000359867.3_Silent_p.I237I|CSNK1E_ENST00000405675.3_Silent_p.I237I|CSNK1E_ENST00000413574.2_Silent_p.I237I|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000403904.1_Silent_p.I237I|CSNK1E_ENST00000400206.2_Silent_p.I237I	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I237I(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					AGAGGACCTCGATGGGCGTTG	0.587																																					p.I237I	Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C711T	22						.						191.0	163.0	173.0					22																	38695925		2203	4300	6503	37025871	SO:0001819	synonymous_variant	1454	exon6				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.711C>T	22.37:g.38695925G>A			37025871	NM_001894		Silent	SNP	ENST00000396832.1	37	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205270	0.22205	.	.	ENSG00000213923	ENST00000451964	.	.	.	5.02	-0.925	0.10458	.	.	.	.	.	T	0.64394	0.2594	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58736	-0.7584	4	.	.	.	.	12.5742	0.56355	0.4354:0.0:0.5646:0.0	.	.	.	.	L	175	.	.	S	-	2	0	CSNK1E	37025871	0.222000	0.23652	0.961000	0.40146	0.650000	0.38633	-0.368000	0.07543	-0.638000	0.05509	-2.069000	0.00389	TCG		0.587	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894	
NPTXR	23467	broad.mit.edu	37	22	39222576	39222576	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:39222576G>A	ENST00000333039.2	-	3	1150	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	343	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.P343S(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCCTGCCCGGGCACTGAGTAG	0.662																																					p.P343S	Pancreas(139;2521 3281 36965)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1027T	22						.						65.0	62.0	63.0					22																	39222576		2203	4300	6503	37552522	SO:0001583	missense	23467	exon3			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1027C>T	22.37:g.39222576G>A	ENSP00000327545:p.Pro343Ser		37552522	NM_014293		Missense_Mutation	SNP	ENST00000333039.2	37	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602262	0.66445	.	.	ENSG00000221890	ENST00000333039	T	0.57436	0.4	4.64	2.56	0.30785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.054407	0.85682	D	0.000000	T	0.58666	0.2138	L	0.45285	1.41	0.44254	D	0.997105	D	0.62365	0.991	P	0.62435	0.902	T	0.69273	-0.5188	9	0.62326	D	0.03	-30.1568	10.548	0.45070	0.0704:0.2495:0.6801:0.0	.	343	O95502	NPTXR_HUMAN	S	343	ENSP00000327545:P343S	ENSP00000327545:P343S	P	-	1	0	NPTXR	37552522	1.000000	0.71417	0.950000	0.38849	0.978000	0.69477	4.691000	0.61738	0.884000	0.36064	0.655000	0.94253	CCC		0.662	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293	
CBX6	23466	broad.mit.edu	37	22	39262280	39262280	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:39262280G>A	ENST00000407418.3	-	5	1296	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	CBX6_ENST00000216083.6_Silent_p.F373F			O95503	CBX6_HUMAN	chromobox homolog 6	391					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)	p.F391F(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CCACCTTCTCGAAATCCTCAG	0.647																																					p.F391F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1173T	22						.						41.0	42.0	42.0					22																	39262280		2203	4300	6503	37592226	SO:0001819	synonymous_variant	23466	exon5				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.1173C>T	22.37:g.39262280G>A			37592226	NM_014292	A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	CCDS13980.1																																																																																				0.647	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292	
APOBEC3G	60489	broad.mit.edu	37	22	39475004	39475004	+	Missense_Mutation	SNP	C	C	T	rs531397529	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:39475004C>T	ENST00000407997.3	+	2	442	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R29C|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	29	Essential for cytoplasmic localization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R29C(2)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CATCCTTTCTCGTCGGAATAC	0.488													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		16893	0.0		0.0	False		,,,				2504	0.0				p.R29C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C85T	22						.						55.0	53.0	54.0					22																	39475004		2203	4297	6500	37804950	SO:0001583	missense	60489	exon2			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.85C>T	22.37:g.39475004C>T	ENSP00000385057:p.Arg29Cys		37804950	NM_021822	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.490044	0.26686	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66099	-0.19;-0.19	1.89	-2.02	0.07388	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.67297	0.2878	M	0.72894	2.215	0.09310	N	1	D	0.76494	0.999	D	0.63033	0.91	T	0.57004	-0.7885	9	0.66056	D	0.02	.	0.7854	0.01047	0.1655:0.2382:0.3613:0.2351	.	29	Q9HC16	ABC3G_HUMAN	C	29	ENSP00000413376:R29C;ENSP00000385057:R29C	ENSP00000385057:R29C	R	+	1	0	APOBEC3G	37804950	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.895000	0.04118	-0.430000	0.07318	-1.191000	0.01696	CGT		0.488	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	
ENTHD1	150350	broad.mit.edu	37	22	40139873	40139873	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:40139873C>A	ENST00000325157.6	-	7	1885	c.1635G>T	c.(1633-1635)aaG>aaT	p.K545N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	545								p.K545N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TAATGGAATTCTTTGCTTCAG	0.433																																					p.K545N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1635T	22						.						94.0	85.0	88.0					22																	40139873		2203	4300	6503	38469819	SO:0001583	missense	150350	exon7			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1635G>T	22.37:g.40139873C>A	ENSP00000317431:p.Lys545Asn		38469819	NM_152512	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.244290	0.00271	.	.	ENSG00000176177	ENST00000325157	T	0.31247	1.5	5.75	-1.7	0.08159	.	1.453130	0.03856	N	0.273218	T	0.10766	0.0263	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32613	-0.9900	10	0.02654	T	1	-0.9843	8.9685	0.35892	0.1454:0.5048:0.3498:0.0	.	545	Q8IYW4	ENTD1_HUMAN	N	545	ENSP00000317431:K545N	ENSP00000317431:K545N	K	-	3	2	ENTHD1	38469819	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.582000	0.02117	-0.413000	0.07507	-0.171000	0.13296	AAG		0.433	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
EP300	2033	broad.mit.edu	37	22	41513675	41513675	+	Silent	SNP	C	C	T	rs376004661		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:41513675C>T	ENST00000263253.7	+	2	1798	c.579C>T	c.(577-579)aaC>aaT	p.N193N		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	193					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.N193N(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						AAGTCATGAACGGTTCAATTG	0.527			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.N193N			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	22						.	C		0,4406		0,0,2203	112.0	91.0	98.0		579	-0.9	1.0	22		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EP300	NM_001429.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		193/2415	41513675	1,13005	2203	4300	6503	39843621	SO:0001819	synonymous_variant	2033	exon2	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.579C>T	22.37:g.41513675C>T			39843621	NM_001429	B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																				0.527	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
MEI1	150365	broad.mit.edu	37	22	42174715	42174715	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:42174715C>T	ENST00000401548.3	+	22	2754	c.2714C>T	c.(2713-2715)tCg>tTg	p.S905L	MEI1_ENST00000400107.1_Intron|MEI1_ENST00000540880.1_Silent_p.L229L|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.S911L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTCACAGCCTCGGGGAACCTA	0.542																																					p.S905L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2714T	22						.						59.0	60.0	60.0					22																	42174715		2071	4206	6277	40504661	SO:0001583	missense	150365	exon22			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2714C>T	22.37:g.42174715C>T	ENSP00000384115:p.Ser905Leu		40504661	NM_152513		Missense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320454	0.23994	.	.	ENSG00000167077	ENST00000401548;ENST00000419798	T	0.63255	-0.03	5.02	0.307	0.15811	.	0.808336	0.11500	N	0.557811	T	0.48589	0.1508	L	0.54323	1.7	0.27303	N	0.957536	B;B;B	0.13145	0.007;0.007;0.003	B;B;B	0.12837	0.008;0.008;0.002	T	0.41538	-0.9503	10	0.37606	T	0.19	-17.8264	1.1844	0.01852	0.2458:0.4246:0.1422:0.1874	.	148;273;905	Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	L	905;15	ENSP00000384115:S905L	ENSP00000384115:S905L	S	+	2	0	MEI1	40504661	0.428000	0.25522	0.562000	0.28370	0.769000	0.43574	0.723000	0.25939	0.635000	0.30488	-0.254000	0.11334	TCG		0.542	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	
MEI1	150365	broad.mit.edu	37	22	42180645	42180645	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:42180645G>A	ENST00000401548.3	+	26	3243	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	MEI1_ENST00000400107.1_Missense_Mutation_p.R401Q|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Missense_Mutation_p.R76Q	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.R1074Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACAGCCCTGCGACAAAGCTTT	0.592																																					p.R1068Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3203A	22						.						44.0	45.0	45.0					22																	42180645		2013	4177	6190	40510591	SO:0001583	missense	150365	exon26			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3203G>A	22.37:g.42180645G>A	ENSP00000384115:p.Arg1068Gln		40510591	NM_152513		Missense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707747	0.15239	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.70749	-0.51;-0.51;0.04;0.04	5.32	1.72	0.24424	.	0.497577	0.22104	N	0.064573	T	0.30166	0.0756	N	0.00841	-1.15	0.18873	N	0.999984	B;B;B;B;B;B	0.21147	0.052;0.005;0.002;0.012;0.021;0.003	B;B;B;B;B;B	0.12837	0.008;0.001;0.002;0.001;0.002;0.001	T	0.39881	-0.9592	10	0.02654	T	1	-13.2614	7.1169	0.25421	0.5293:0.0:0.4707:0.0	.	82;401;178;311;436;1068	B7Z735;Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;.;MEI1_HUMAN	Q	1068;401;76;178;76	ENSP00000384115:R1068Q;ENSP00000382978:R401Q;ENSP00000300398:R76Q;ENSP00000385298:R76Q	ENSP00000300398:R76Q	R	+	2	0	MEI1	40510591	0.010000	0.17322	0.994000	0.49952	0.977000	0.68977	0.392000	0.20801	0.271000	0.22005	-0.484000	0.04775	CGA		0.592	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	
MEI1	150365	broad.mit.edu	37	22	42190462	42190462	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:42190462T>G	ENST00000401548.3	+	28	3555	c.3515T>G	c.(3514-3516)aTt>aGt	p.I1172S	MEI1_ENST00000400107.1_Missense_Mutation_p.I505S|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Missense_Mutation_p.I180S	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.I1178S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGACCTGAGATTTTGAGGCTC	0.507																																					p.I1172S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3515G	22						.						201.0	192.0	195.0					22																	42190462		1930	4138	6068	40520408	SO:0001583	missense	150365	exon28			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3515T>G	22.37:g.42190462T>G	ENSP00000384115:p.Ile1172Ser		40520408	NM_152513		Missense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892972	0.72524	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.53	5.53	0.82687	.	0.236481	0.41823	D	0.000813	T	0.74397	0.3711	M	0.61703	1.905	0.44477	D	0.997414	P;P;P;D;P	0.57571	0.879;0.911;0.739;0.98;0.879	P;P;P;P;P	0.49922	0.626;0.474;0.474;0.572;0.572	T	0.78237	-0.2282	10	0.87932	D	0	-16.6005	13.0269	0.58821	0.0:0.0:0.0:1.0	.	505;282;415;540;1172	Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;MEI1_HUMAN	S	1172;505;180;282;180	ENSP00000384115:I1172S;ENSP00000382978:I505S;ENSP00000300398:I180S;ENSP00000385298:I180S	ENSP00000300398:I180S	I	+	2	0	MEI1	40520408	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.066000	0.57520	2.102000	0.63906	0.402000	0.26972	ATT		0.507	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	
MEI1	150365	broad.mit.edu	37	22	42191416	42191416	+	Splice_Site	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:42191416T>G	ENST00000401548.3	+	29	3576	c.3536T>G	c.(3535-3537)tTt>tGt	p.F1179C	MEI1_ENST00000400107.1_Splice_Site_p.F512C|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Intron	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.F1185C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGGGCCAGTTTATGCGGTAC	0.522																																					p.F1179C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3536G	22						.						139.0	140.0	140.0					22																	42191416		2033	4190	6223	40521362	SO:0001630	splice_region_variant	150365	exon29			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3535-1T>G	22.37:g.42191416T>G			40521362	NM_152513		Missense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	t	18.12	3.552609	0.65425	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000419798	T;T	0.66099	-0.19;-0.19	5.01	5.01	0.66863	.	0.260619	0.40064	N	0.001182	T	0.74520	0.3727	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.99	P;D;D;P	0.85130	0.874;0.997;0.997;0.723	T	0.77172	-0.2685	10	0.87932	D	0	-25.2923	12.0964	0.53757	0.0:0.0:0.0:1.0	.	512;422;547;1179	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	C	1179;512;289	ENSP00000384115:F1179C;ENSP00000382978:F512C	ENSP00000382978:F512C	F	+	2	0	MEI1	40521362	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.772000	0.55325	1.882000	0.54519	0.379000	0.24179	TTT		0.522	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	Missense_Mutation
TTLL1	25809	broad.mit.edu	37	22	43442423	43442423	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:43442423C>T	ENST00000266254.7	-	10	1375	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	TTLL1_ENST00000331018.7_Missense_Mutation_p.E350K|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	379					axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)	p.E379K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TACAGAATCTCGTAATTGCCG	0.498																																					p.E379K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1135A	22						.						379.0	296.0	324.0					22																	43442423		2203	4300	6503	41772367	SO:0001583	missense	25809	exon10			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1135G>A	22.37:g.43442423C>T	ENSP00000266254:p.Glu379Lys		41772367	NM_012263	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353026	0.61293	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05786	3.39;3.65	5.55	5.55	0.83447	.	0.056526	0.64402	D	0.000001	T	0.09024	0.0223	L	0.55990	1.75	0.80722	D	1	P;B	0.35011	0.48;0.348	B;B	0.29663	0.105;0.064	T	0.20405	-1.0276	10	0.29301	T	0.29	.	19.548	0.95307	0.0:1.0:0.0:0.0	.	350;379	O95922-4;O95922	.;TTLL1_HUMAN	K	350;379	ENSP00000333734:E350K;ENSP00000266254:E379K	ENSP00000266254:E379K	E	-	1	0	TTLL1	41772367	1.000000	0.71417	0.615000	0.29064	0.878000	0.50629	6.300000	0.72776	2.621000	0.88768	0.555000	0.69702	GAG		0.498	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263	
SMC1B	27127	broad.mit.edu	37	22	45802729	45802729	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:45802729G>A	ENST00000357450.4	-	3	315	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	SMC1B_ENST00000404354.3_Missense_Mutation_p.R106C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	106					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R106C(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATTAAAGCGAAATTCTGAG	0.299																																					p.R106C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C316T	22						.						65.0	60.0	62.0					22																	45802729		1804	4059	5863	44181393	SO:0001583	missense	27127	exon3			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.316C>T	22.37:g.45802729G>A	ENSP00000350036:p.Arg106Cys		44181393	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	4.692	0.128648	0.08981	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.10477	2.87;3.19	5.58	1.12	0.20585	.	0.941000	0.08883	N	0.879687	T	0.12518	0.0304	M	0.67397	2.05	0.21950	N	0.999455	B;B	0.28760	0.112;0.221	B;B	0.27887	0.084;0.065	T	0.30592	-0.9973	10	0.44086	T	0.13	.	5.7419	0.18098	0.1975:0.0:0.5679:0.2346	.	106;106	Q8NDV3-2;Q8NDV3-3	.;.	C	106	ENSP00000350036:R106C;ENSP00000385902:R106C	ENSP00000350036:R106C	R	-	1	0	SMC1B	44181393	0.226000	0.23696	0.014000	0.15608	0.014000	0.08584	0.543000	0.23237	0.116000	0.18110	0.555000	0.69702	CGC		0.299	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
PKDREJ	10343	broad.mit.edu	37	22	46656825	46656825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr22:46656825G>A	ENST00000253255.5	-	1	2394	c.2395C>T	c.(2395-2397)Cga>Tga	p.R799*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	799	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.R799*(2)		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)		TGTTCAGATCGAAAGCGTTTA	0.388																																					p.R799X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2395T	22						.						71.0	75.0	74.0					22																	46656825		2203	4300	6503	45035489	SO:0001587	stop_gained	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.2395C>T	22.37:g.46656825G>A	ENSP00000253255:p.Arg799*		45035489	NM_006071	B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763605	0.96906	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.31	-0.988	0.10245	.	1.194380	0.05773	N	0.607068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-1.171	1.5651	0.02602	0.1676:0.1274:0.2767:0.4283	.	.	.	.	X	799	.	ENSP00000253255:R799X	R	-	1	2	PKDREJ	45035489	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.072000	0.11486	-0.246000	0.09611	-0.274000	0.10170	CGA		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
ARID5A	10865	broad.mit.edu	37	2	97216895	97216896	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:97216895_97216896insC	ENST00000357485.3	+	7	708_709	c.630_631insC	c.(631-633)cccfs	p.P211fs	ARID5A_ENST00000454558.2_Frame_Shift_Ins_p.P143fs	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	211					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R213fs*25(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCAGCCAGGAGCCCCCCAGGAA	0.599																																					p.E210fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.630_631insC	2						.																																			96580623	SO:0001589	frameshift_variant	10865	exon7			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.636dupC	2.37:g.97216901_97216901dupC	ENSP00000350078:p.Pro211fs		96580622	NM_212481	Q6NX37	Frame_Shift_Ins	INS	ENST00000357485.3	37	CCDS33251.1																																																																																				0.599	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481	
CHST10	9486	broad.mit.edu	37	2	101009760	101009760	+	Missense_Mutation	SNP	C	C	T	rs147487716	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:101009760C>T	ENST00000264249.3	-	7	1403	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	CHST10_ENST00000409701.1_Missense_Mutation_p.E340K|CHST10_ENST00000542617.1_Missense_Mutation_p.E388K	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	340					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.E340K(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AAGTCCCCTTCGAAACGGGCA	0.453													C|||	10	0.00199681	0.0068	0.0014	5008	,	,		21750	0.0		0.0	False		,,,				2504	0.0				p.E340K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1018A	2						.	C	LYS/GLU	23,4383	31.7+/-61.6	1,21,2181	118.0	115.0	116.0		1018	5.9	0.7	2	dbSNP_134	116	0,8600		0,0,4300	yes	missense	CHST10	NM_004854.4	56	1,21,6481	TT,TC,CC		0.0,0.522,0.1768	possibly-damaging	340/357	101009760	23,12983	2203	4300	6503	100376192	SO:0001583	missense	9486	exon7			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.1018G>A	2.37:g.101009760C>T	ENSP00000264249:p.Glu340Lys		100376192	NM_004854	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	C	11.08	1.533946	0.27387	0.00522	0.0	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.74002	-0.8;-0.8;-0.8	5.91	5.91	0.95273	.	0.044676	0.85682	D	0.000000	T	0.50497	0.1619	N	0.12471	0.22	0.58432	D	0.999999	P	0.34800	0.469	B	0.31812	0.136	T	0.55198	-0.8178	10	0.14656	T	0.56	-27.2748	20.2963	0.98556	0.0:1.0:0.0:0.0	.	340	O43529	CHSTA_HUMAN	K	340;388;340	ENSP00000264249:E340K;ENSP00000438869:E388K;ENSP00000387309:E340K	ENSP00000264249:E340K	E	-	1	0	CHST10	100376192	1.000000	0.71417	0.662000	0.29724	0.965000	0.64279	4.203000	0.58453	2.813000	0.96785	0.655000	0.94253	GAA		0.453	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
NMS	129521	broad.mit.edu	37	2	101095815	101095815	+	Splice_Site	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:101095815T>G	ENST00000376865.1	+	6	269	c.262T>G	c.(262-264)Ttt>Gtt	p.F88V		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	88					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.F88V(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TCTGTTGCAGTTTCCTCCAGT	0.532																																					p.F88V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T262G	2						.						91.0	83.0	86.0					2																	101095815		2203	4300	6503	100462247	SO:0001630	splice_region_variant	129521	exon6			AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.262-1T>G	2.37:g.101095815T>G			100462247	NM_001011717		Missense_Mutation	SNP	ENST00000376865.1	37	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.194225	0.38707	.	.	ENSG00000204640	ENST00000376865	T	0.22945	1.93	4.73	-0.262	0.12958	.	0.542064	0.17315	N	0.178736	T	0.20536	0.0494	M	0.65975	2.015	0.09310	N	1	B	0.20550	0.046	B	0.14578	0.011	T	0.17501	-1.0367	9	.	.	.	-5.4664	3.9395	0.09321	0.0:0.2796:0.1828:0.5376	.	88	Q5H8A3	NMS_HUMAN	V	88	ENSP00000366061:F88V	.	F	+	1	0	NMS	100462247	0.636000	0.27207	0.638000	0.29380	0.377000	0.30045	-0.038000	0.12144	0.068000	0.16574	-0.435000	0.05868	TTT		0.532	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717	Missense_Mutation
TBC1D8	11138	broad.mit.edu	37	2	101652580	101652580	+	Silent	SNP	G	G	A	rs368730178		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:101652580G>A	ENST00000376840.4	-	9	1457	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	TBC1D8_ENST00000409318.1_Silent_p.Y501Y			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	486					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.Y486Y(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGGTTCTGCCGTATTCCACAA	0.468																																					p.Y486Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1458T	2						.	G		0,3860		0,0,1930	188.0	193.0	192.0		1458	-6.5	0.4	2		192	1,8273		0,1,4136	no	coding-synonymous	TBC1D8	NM_001102426.1		0,1,6066	AA,AG,GG		0.0121,0.0,0.0082		486/1141	101652580	1,12133	1930	4137	6067	101019012	SO:0001819	synonymous_variant	11138	exon9			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1458C>T	2.37:g.101652580G>A			101019012	NM_001102426	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	CCDS46375.1																																																																																				0.468	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
IL1RL2	8808	broad.mit.edu	37	2	102818025	102818025	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:102818025G>A	ENST00000264257.2	+	5	625	c.499G>A	c.(499-501)Gag>Aag	p.E167K	IL1RL2_ENST00000441515.2_Missense_Mutation_p.E50K|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E167K|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	167	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.E167K(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGACTGTAACGAGATTAAAGG	0.408																																					p.E167K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G499A	2						.						105.0	104.0	104.0					2																	102818025		2203	4300	6503	102184457	SO:0001583	missense	8808	exon5			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.499G>A	2.37:g.102818025G>A	ENSP00000264257:p.Glu167Lys		102184457	NM_003854	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265529	0.59431	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000421464;ENST00000539491	T;T;T;T	0.12465	2.68;3.93;2.68;2.68	4.4	4.4	0.53042	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.298323	0.32343	N	0.006225	T	0.18257	0.0438	L	0.39467	1.215	0.33505	D	0.590387	D;D	0.60160	0.984;0.987	B;P	0.56788	0.33;0.806	T	0.01504	-1.1338	10	0.07030	T	0.85	.	12.6651	0.56837	0.0:0.0:1.0:0.0	.	50;167	A4FU63;Q9HB29	.;ILRL2_HUMAN	K	167;50;167;167	ENSP00000264257:E167K;ENSP00000413348:E50K;ENSP00000387611:E167K;ENSP00000442184:E167K	ENSP00000264257:E167K	E	+	1	0	IL1RL2	102184457	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	1.653000	0.37323	2.453000	0.82957	0.462000	0.41574	GAG		0.408	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
IL18RAP	8807	broad.mit.edu	37	2	103059714	103059714	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:103059714A>G	ENST00000264260.2	+	8	1440	c.851A>G	c.(850-852)aAc>aGc	p.N284S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.N142S|AC007278.3_ENST00000450893.1_RNA	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	284	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.N284S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGGGTCTTTAACCCTGTCATA	0.413																																					p.N284S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A851G	2						.						79.0	82.0	81.0					2																	103059714		2203	4300	6503	102426146	SO:0001583	missense	8807	exon8			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.851A>G	2.37:g.103059714A>G	ENSP00000264260:p.Asn284Ser		102426146	NM_003853	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	4.458	0.084787	0.08583	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.12774	2.65;2.65	5.47	-1.4	0.08968	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.011430	0.01960	N	0.043302	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.18650	-1.0330	10	0.07325	T	0.83	.	1.7403	0.02951	0.5308:0.1353:0.2139:0.1199	.	284	O95256	I18RA_HUMAN	S	284;142	ENSP00000264260:N284S;ENSP00000387201:N142S	ENSP00000264260:N284S	N	+	2	0	IL18RAP	102426146	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.311000	0.08124	-0.150000	0.11195	0.528000	0.53228	AAC		0.413	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
SLC9A4	389015	broad.mit.edu	37	2	103125390	103125390	+	Missense_Mutation	SNP	C	C	T	rs146323025		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:103125390C>T	ENST00000295269.4	+	6	1943	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	496					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)	p.R496C(1)		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						GCTTCATATTCGTGTAAGTTA	0.378																																					p.R496C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1486T	2						.	C	CYS/ARG	0,4406		0,0,2203	103.0	111.0	108.0		1486	6.2	1.0	2	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A4	NM_001011552.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	496/799	103125390	1,13005	2203	4300	6503	102491822	SO:0001583	missense	389015	exon6				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.1486C>T	2.37:g.103125390C>T	ENSP00000295269:p.Arg496Cys		102491822	NM_001011552	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971166	0.74246	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.51817	0.69	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	M	0.87097	2.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.66351	0.943	T	0.76675	-0.2872	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	496	Q6AI14	SL9A4_HUMAN	C	496	ENSP00000295269:R496C	ENSP00000295269:R496C	R	+	1	0	SLC9A4	102491822	0.995000	0.38212	0.995000	0.50966	0.665000	0.39181	3.396000	0.52565	2.941000	0.99782	0.655000	0.94253	CGT		0.378	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
MFSD9	84804	broad.mit.edu	37	2	103340183	103340183	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:103340183A>C	ENST00000258436.5	-	5	656	c.613T>G	c.(613-615)Ttt>Gtt	p.F205V		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	205					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.F205V(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AAGACCAAAAAGCAGATGAAG	0.428																																					p.F205V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T613G	2						.						71.0	70.0	71.0					2																	103340183		2203	4300	6503	102706615	SO:0001583	missense	84804	exon5				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.613T>G	2.37:g.103340183A>C	ENSP00000258436:p.Phe205Val		102706615	NM_032718	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470835	0.26423	.	.	ENSG00000135953	ENST00000258436	T	0.57595	0.39	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.501699	0.20968	N	0.082456	T	0.39436	0.1078	L	0.37630	1.12	0.23823	N	0.996747	B	0.32101	0.356	B	0.30716	0.119	T	0.20907	-1.0261	10	0.15952	T	0.53	-15.562	11.1789	0.48616	0.7988:0.2012:0.0:0.0	.	205	Q8NBP5	MFSD9_HUMAN	V	205	ENSP00000258436:F205V	ENSP00000258436:F205V	F	-	1	0	MFSD9	102706615	1.000000	0.71417	0.191000	0.23289	0.410000	0.31052	4.069000	0.57541	1.856000	0.53863	0.383000	0.25322	TTT		0.428	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
MRPS9	64965	broad.mit.edu	37	2	105708874	105708874	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:105708874C>T	ENST00000258455.3	+	8	777	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	223					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R223W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGTTCATTCGGCTGCTAGA	0.358																																					p.R223W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667T	2						.						86.0	85.0	86.0					2																	105708874		2203	4300	6503	105075306	SO:0001583	missense	64965	exon8				CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.667C>T	2.37:g.105708874C>T	ENSP00000258455:p.Arg223Trp		105075306	NM_182640	Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416559	0.42918	.	.	ENSG00000135972	ENST00000258455	D	0.92595	-3.07	5.91	4.98	0.66077	.	0.437819	0.27715	N	0.018159	D	0.89712	0.6794	L	0.51422	1.61	0.36138	D	0.846616	D	0.58620	0.983	B	0.43680	0.427	D	0.92594	0.6085	10	0.72032	D	0.01	-20.8369	12.8781	0.58001	0.128:0.7486:0.1234:0.0	.	223	P82933	RT09_HUMAN	W	223	ENSP00000258455:R223W	ENSP00000258455:R223W	R	+	1	2	MRPS9	105075306	0.957000	0.32711	0.890000	0.34922	0.260000	0.26232	2.494000	0.45329	2.793000	0.96121	0.655000	0.94253	CGG		0.358	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640	
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	G	A	rs138821621		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:107450509G>A	ENST00000409382.3	-	3	1647	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	346					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.S346L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393																																					p.S346L												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.C1037T	2						.	G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	217.0	204.0	209.0		1037,1037,1037	5.9	1.0	2	dbSNP_134	209	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	346/530,346/467,346/530	107450509	1,13005	2203	4300	6503	106816941	SO:0001583	missense	84620	exon3			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1037C>T	2.37:g.107450509G>A	ENSP00000386942:p.Ser346Leu		106816941	NM_001142351	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100472	0.94245	0.0	1.16E-4	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.31769	1.48;1.48;1.48	5.88	5.88	0.94601	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.87827	2.91	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.65140	0.93;0.932	T	0.66810	-0.5829	10	0.72032	D	0.01	-39.462	19.2322	0.93845	0.0:0.0:1.0:0.0	.	346;346	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	346	ENSP00000355273:S346L;ENSP00000386942:S346L;ENSP00000387332:S346L	ENSP00000355273:S346L	S	-	2	0	ST6GAL2	106816941	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	TCG		0.393	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
SULT1C3	442038	broad.mit.edu	37	2	108881728	108881728	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:108881728T>C	ENST00000329106.2	+	7	836	c.836T>C	c.(835-837)gTg>gCg	p.V279A		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	279					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)	p.V279A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATTTTACTGTGGCCCAAAAT	0.483																																					p.V279A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T836C	2						.						114.0	110.0	112.0					2																	108881728		2203	4300	6503	108248160	SO:0001583	missense	442038	exon7			BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.836T>C	2.37:g.108881728T>C	ENSP00000333310:p.Val279Ala		108248160	NM_001008743	Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582261	0.65992	.	.	ENSG00000196228	ENST00000329106	D	0.83075	-1.68	5.11	3.94	0.45596	Sulfotransferase domain (1);	0.133786	0.33438	N	0.004917	D	0.88647	0.6493	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88232	0.2904	10	0.62326	D	0.03	.	10.6851	0.45837	0.143:0.0:0.0:0.857	.	279	Q6IMI6	ST1C3_HUMAN	A	279	ENSP00000333310:V279A	ENSP00000333310:V279A	V	+	2	0	SULT1C3	108248160	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	2.638000	0.46562	0.943000	0.37553	0.533000	0.62120	GTG		0.483	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743	
RANBP2	5903	broad.mit.edu	37	2	109370350	109370350	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:109370350A>C	ENST00000283195.6	+	15	2251	c.2125A>C	c.(2125-2127)Aat>Cat	p.N709H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	709					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)		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						AGAATGCAAAAATTATCTGAG	0.338																																					p.N709H												.	.	0			c.A2125C	2						.						113.0	129.0	123.0					2																	109370350		2196	4291	6487	108736782	SO:0001583	missense	5903	exon15			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.2125A>C	2.37:g.109370350A>C	ENSP00000283195:p.Asn709His		108736782	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423492	0.62733	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23348	1.91	5.09	5.09	0.68999	.	.	.	.	.	T	0.32041	0.0816	L	0.27053	0.805	0.25415	N	0.988323	D	0.67145	0.996	P	0.59703	0.862	T	0.10965	-1.0607	9	0.66056	D	0.02	-26.1676	9.6669	0.39990	0.9214:0.0:0.0786:0.0	.	709	P49792	RBP2_HUMAN	H	709	ENSP00000283195:N709H	ENSP00000283195:N709H	N	+	1	0	RANBP2	108736782	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.221000	0.51215	2.042000	0.60477	0.528000	0.53228	AAT		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109380686	109380686	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:109380686C>T	ENST00000283195.6	+	20	3817	c.3691C>T	c.(3691-3693)Cgc>Tgc	p.R1231C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1231	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.R1231C(4)	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						TGGTAAAATTCGCCTTCTAAT	0.383																																					p.R1231C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3691T	2						.						72.0	73.0	72.0					2																	109380686		2203	4300	6503	108747118	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.3691C>T	2.37:g.109380686C>T	ENSP00000283195:p.Arg1231Cys		108747118	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132503	0.77662	.	.	ENSG00000153201	ENST00000283195	T	0.66638	-0.22	5.45	5.45	0.79879	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	D	0.89015	0.6595	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92728	0.6197	9	0.87932	D	0	-10.0827	19.3035	0.94153	0.0:1.0:0.0:0.0	.	1231	P49792	RBP2_HUMAN	C	1231	ENSP00000283195:R1231C	ENSP00000283195:R1231C	R	+	1	0	RANBP2	108747118	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.814000	0.86154	2.535000	0.85469	0.650000	0.86243	CGC		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
SEPT10	151011	broad.mit.edu	37	2	110303730	110303730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:110303730C>A	ENST00000397712.2	-	10	1624	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	SEPT10_ENST00000334001.6_Nonsense_Mutation_p.E283*|SEPT10_ENST00000437928.1_Nonsense_Mutation_p.E401*|SEPT10_ENST00000356688.4_Nonsense_Mutation_p.E416*|SEPT10_ENST00000545389.1_Nonsense_Mutation_p.E249*|SEPT10_ENST00000397714.2_Nonsense_Mutation_p.E393*|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.E416*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	416					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.E393*(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GCAATTATTTCTTCTTCCAAA	0.423											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E393X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1177T	2						.						104.0	104.0	104.0					2																	110303730		1855	4080	5935	109661019	SO:0001587	stop_gained	151011	exon9			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1246G>T	2.37:g.110303730C>A	ENSP00000380824:p.Glu416*	1426	109661019	NM_178584	B3KRQ9|Q86VP5|Q9HAH6	Nonsense_Mutation	SNP	ENST00000397712.2	37	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651836	0.67472	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095	.	.	.	5.87	5.87	0.94306	.	0.161766	0.42548	D	0.000689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0453	0.93018	0.0:1.0:0.0:0.0	.	.	.	.	X	416;416;393;283;401;249;416	.	ENSP00000334234:E283X	E	-	1	0	SEPT10	109661019	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	6.953000	0.75995	2.797000	0.96272	0.650000	0.86243	GAA		0.423	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	
NPHP1	4867	broad.mit.edu	37	2	110889315	110889315	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:110889315A>C	ENST00000393272.3	-	17	1845	c.1748T>G	c.(1747-1749)tTt>tGt	p.F583C	NPHP1_ENST00000316534.4_Missense_Mutation_p.F584C|NPHP1_ENST00000355301.4_Missense_Mutation_p.F465C|NPHP1_ENST00000417665.1_Missense_Mutation_p.F527C|NPHP1_ENST00000445609.2_Missense_Mutation_p.F528C	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	583					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)	p.F584C(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTGTCGATAAAATATCAACAA	0.363																																					p.F528C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1583G	2						.						77.0	75.0	76.0					2																	110889315		2203	4300	6503	110246604	SO:0001583	missense	4867	exon17			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.1748T>G	2.37:g.110889315A>C	ENSP00000376953:p.Phe583Cys		110246604	NM_001128178	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107785	0.56291	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.62788	-0.0;0.01;-0.0;0.02;0.02	5.15	3.99	0.46301	.	0.288221	0.34268	N	0.004104	T	0.69396	0.3106	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.907;0.979;0.965;0.962;0.957;0.999	T	0.69083	-0.5239	10	0.87932	D	0	-20.6298	5.3833	0.16204	0.7619:0.0:0.0841:0.154	.	527;527;465;583;528;584	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	C	584;528;583;465;527	ENSP00000313169:F584C;ENSP00000389879:F528C;ENSP00000376953:F583C;ENSP00000347452:F465C;ENSP00000402176:F527C	ENSP00000313169:F584C	F	-	2	0	NPHP1	110246604	1.000000	0.71417	0.977000	0.42913	0.977000	0.68977	3.903000	0.56318	0.796000	0.33947	0.383000	0.25322	TTT		0.363	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
BUB1	699	broad.mit.edu	37	2	111431725	111431725	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:111431725C>T	ENST00000302759.6	-	3	281	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	BUB1_ENST00000535254.1_Missense_Mutation_p.E35K|BUB1_ENST00000409311.1_Missense_Mutation_p.E55K	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	55	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for kinetochore localization.				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.E55K(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)		TCTAAAAATTCCTTCATTAAA	0.254																																					p.E55K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G163A	2						.						59.0	62.0	61.0					2																	111431725		2180	4287	6467	111148196	SO:0001583	missense	699	exon3			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.163G>A	2.37:g.111431725C>T	ENSP00000302530:p.Glu55Lys		111148196	NM_004336	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385271	0.25031	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432;ENST00000447014;ENST00000420328;ENST00000436916	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	5.57	4.59	0.56863	Mad3/BUB1 homology region 1 (3);	0.387943	0.29260	N	0.012678	T	0.31009	0.0783	N	0.13098	0.295	0.31669	N	0.644647	P;P;P	0.44260	0.641;0.83;0.83	B;B;B	0.34824	0.145;0.19;0.19	T	0.44452	-0.9327	10	0.05959	T	0.93	-27.4793	5.1426	0.14967	0.0:0.7599:0.0:0.2401	.	35;55;55	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	K	35;55;55;55;46;46;46	ENSP00000441013:E35K;ENSP00000386701:E55K;ENSP00000302530:E55K;ENSP00000402883:E46K;ENSP00000409713:E46K;ENSP00000392219:E46K	ENSP00000302530:E55K	E	-	1	0	BUB1	111148196	0.915000	0.31059	1.000000	0.80357	0.994000	0.84299	2.083000	0.41615	2.637000	0.89404	0.555000	0.69702	GAA		0.254	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
FBLN7	129804	broad.mit.edu	37	2	112940476	112940476	+	Missense_Mutation	SNP	G	G	A	rs569662326		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:112940476G>A	ENST00000331203.2	+	6	1050	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	FBLN7_ENST00000409450.3_Missense_Mutation_p.R214Q|FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409903.1_Missense_Mutation_p.R260Q	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	260	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R260Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGGATACCGAACTCTGGCT	0.652																																					p.R260Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G779A	2						.						60.0	52.0	55.0					2																	112940476		2202	4297	6499	112656947	SO:0001583	missense	129804	exon6				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.779G>A	2.37:g.112940476G>A	ENSP00000331411:p.Arg260Gln		112656947	NM_153214	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	7.158	0.585120	0.13749	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409450;ENST00000441565;ENST00000272559	D;D;D;D;D	0.96522	-2.92;-4.04;-4.04;-2.22;-4.04	5.54	-3.05	0.05396	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.518543	0.20740	N	0.086548	D	0.84556	0.5498	N	0.04669	-0.19	0.09310	N	1	B;B;B	0.26400	0.04;0.017;0.148	B;B;B	0.12156	0.004;0.002;0.007	T	0.77710	-0.2486	10	0.11794	T	0.64	-3.9074	7.0972	0.25317	0.4386:0.0:0.3859:0.1755	.	214;260;260	Q53RD9-2;Q53RD9;B8ZZC1	.;FBLN7_HUMAN;.	Q	260;260;214;154;82	ENSP00000331411:R260Q;ENSP00000386295:R260Q;ENSP00000387000:R214Q;ENSP00000388025:R154Q;ENSP00000272559:R82Q	ENSP00000272559:R82Q	R	+	2	0	FBLN7	112656947	0.063000	0.20901	0.000000	0.03702	0.273000	0.26683	1.175000	0.31944	-1.580000	0.01644	-2.134000	0.00341	CGA		0.652	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	
ZC3H6	376940	broad.mit.edu	37	2	113081887	113081887	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:113081887G>A	ENST00000409871.1	+	10	1900	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G500E	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	500	Pro-rich.						metal ion binding (GO:0046872)	p.G500E(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGCTCCCCTGGACATCACCCA	0.537																																					p.G500E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499A	2						.						52.0	51.0	51.0					2																	113081887		1998	4171	6169	112798358	SO:0001583	missense	376940	exon10			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.1499G>A	2.37:g.113081887G>A	ENSP00000386764:p.Gly500Glu		112798358	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018793	0.75275	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15139	2.45;2.45	5.5	3.61	0.41365	.	0.303245	0.35838	N	0.002951	T	0.27419	0.0673	L	0.40543	1.245	0.36867	D	0.888706	D	0.69078	0.997	P	0.57720	0.826	T	0.24048	-1.0171	10	0.56958	D	0.05	-7.9628	14.5313	0.67929	0.0:0.2769:0.723:0.0	.	500	P61129	ZC3H6_HUMAN	E	500;500;477	ENSP00000386764:G500E;ENSP00000340298:G500E	ENSP00000340298:G500E	G	+	2	0	ZC3H6	112798358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.920000	0.56446	1.310000	0.45006	-0.274000	0.10170	GGA		0.537	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
POLR1B	84172	broad.mit.edu	37	2	113310264	113310264	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:113310264T>G	ENST00000263331.5	+	7	1609	c.1029T>G	c.(1027-1029)ttT>ttG	p.F343L	POLR1B_ENST00000417433.2_Missense_Mutation_p.F287L|POLR1B_ENST00000537335.1_Missense_Mutation_p.F132L|POLR1B_ENST00000541869.1_Missense_Mutation_p.F381L|POLR1B_ENST00000409894.3_Missense_Mutation_p.F343L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	343					gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CTGAAAAGTTTTATATGCTTT	0.378																																					p.F287L	Ovarian(16;256 576 9537 23969 41147)											.	.	0			c.T861G	2						.						118.0	117.0	117.0					2																	113310264		2203	4300	6503	113026735	SO:0001583	missense	84172	exon6			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1029T>G	2.37:g.113310264T>G	ENSP00000263331:p.Phe343Leu		113026735	NM_001137604	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092781	0.56075	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.75	-4.65	0.03339	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.74258	2.255	0.80722	D	1	B;P;B;B	0.34615	0.04;0.459;0.007;0.054	B;B;B;B	0.30943	0.052;0.086;0.046;0.122	T	0.54879	-0.8227	10	0.62326	D	0.03	-28.1091	15.0755	0.72074	0.0:0.5293:0.0:0.4707	.	381;343;287;343	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	L	343;381;343;132;287	ENSP00000263331:F343L;ENSP00000444136:F381L;ENSP00000387143:F343L;ENSP00000437914:F132L;ENSP00000405358:F287L	ENSP00000263331:F343L	F	+	3	2	POLR1B	113026735	0.990000	0.36364	0.171000	0.22900	0.966000	0.64601	0.314000	0.19432	-1.010000	0.03396	-1.162000	0.01777	TTT		0.378	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	
GREB1	9687	broad.mit.edu	37	2	11770213	11770213	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:11770213G>A	ENST00000381486.2	+	26	4889	c.4589G>A	c.(4588-4590)cGa>cAa	p.R1530Q	GREB1_ENST00000396123.1_Missense_Mutation_p.R528Q|GREB1_ENST00000234142.5_Missense_Mutation_p.R1530Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1530						integral component of membrane (GO:0016021)		p.R1530Q(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)		GAGAGCATGCGACTACCCCTC	0.562																																					p.R1530Q	Ovarian(39;850 945 2785 23371 33093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4589A	2						.						77.0	76.0	76.0					2																	11770213		2078	4220	6298	11687664	SO:0001583	missense	9687	exon26				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.4589G>A	2.37:g.11770213G>A	ENSP00000370896:p.Arg1530Gln		11687664	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030826	0.93575	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.54866	0.55;0.55;0.55	5.21	5.21	0.72293	.	0.048392	0.85682	D	0.000000	T	0.74261	0.3693	M	0.76838	2.35	0.50171	D	0.999854	D	0.89917	1.0	D	0.73708	0.981	T	0.77376	-0.2611	10	0.72032	D	0.01	-37.3905	19.1157	0.93338	0.0:0.0:1.0:0.0	.	1530	Q4ZG55	GREB1_HUMAN	Q	1530;1530;528	ENSP00000370896:R1530Q;ENSP00000234142:R1530Q;ENSP00000379429:R528Q	ENSP00000234142:R1530Q	R	+	2	0	GREB1	11687664	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	6.097000	0.71452	2.589000	0.87451	0.609000	0.83330	CGA		0.562	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
LPIN1	23175	broad.mit.edu	37	2	11923967	11923967	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:11923967G>A	ENST00000256720.2	+	8	1262	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	LPIN1_ENST00000396097.1_Missense_Mutation_p.R120Q|LPIN1_ENST00000425416.2_Missense_Mutation_p.R396Q|LPIN1_ENST00000449576.2_Missense_Mutation_p.R475Q|LPIN1_ENST00000396099.1_Missense_Mutation_p.R432Q|LPIN1_ENST00000396098.1_Missense_Mutation_p.R432Q	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	390					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R390Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAACGAAGCCGACATCTTGGT	0.428																																					p.R390Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1169A	2						.						235.0	242.0	239.0					2																	11923967		2203	4300	6503	11841418	SO:0001583	missense	23175	exon8			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1169G>A	2.37:g.11923967G>A	ENSP00000256720:p.Arg390Gln		11841418	NM_145693	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	4.285	0.052001	0.08291	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.19	5.19	0.71726	.	0.115765	0.64402	D	0.000014	T	0.47710	0.1460	N	0.20685	0.6	0.53005	D	0.999962	B;B;B	0.30824	0.245;0.019;0.296	B;B;B	0.23275	0.045;0.005;0.033	T	0.50906	-0.8772	10	0.02654	T	1	-26.3323	18.9025	0.92448	0.0:0.0:1.0:0.0	.	475;390;432	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	Q	475;432;432;396;390;120	ENSP00000397908:R475Q;ENSP00000379405:R432Q;ENSP00000379406:R432Q;ENSP00000401522:R396Q;ENSP00000256720:R390Q;ENSP00000379404:R120Q	ENSP00000256720:R390Q	R	+	2	0	LPIN1	11841418	0.767000	0.28508	0.425000	0.26659	0.449000	0.32228	4.072000	0.57563	2.709000	0.92574	0.655000	0.94253	CGA		0.428	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
ACTR3	10096	broad.mit.edu	37	2	114699886	114699886	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:114699886G>A	ENST00000263238.2	+	8	1128	c.808G>A	c.(808-810)Gat>Aat	p.D270N	ACTR3_ENST00000536059.1_Missense_Mutation_p.D208N|ACTR3_ENST00000535589.2_Missense_Mutation_p.D219N	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	270					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.D270N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GTTTTCTATCGATGTTGGTTA	0.299																																					p.D270N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	2						.						102.0	104.0	103.0					2																	114699886		2203	4298	6501	114416356	SO:0001583	missense	10096	exon8			AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.808G>A	2.37:g.114699886G>A	ENSP00000263238:p.Asp270Asn		114416356	NM_005721	P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055435	0.75960	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	T;T;T	0.08193	3.12;3.12;3.12	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	M	0.73598	2.24	0.80722	D	1	P;P	0.52061	0.95;0.928	B;B	0.44133	0.271;0.442	T	0.02009	-1.1230	10	0.72032	D	0.01	-17.2792	18.5203	0.90950	0.0:0.0:1.0:0.0	.	208;270	F5H3P5;P61158	.;ARP3_HUMAN	N	270;208;141;219	ENSP00000263238:D270N;ENSP00000445257:D208N;ENSP00000444987:D219N	ENSP00000263238:D270N	D	+	1	0	ACTR3	114416356	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.657000	0.98554	2.606000	0.88127	0.313000	0.20887	GAT		0.299	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721	
CCDC93	54520	broad.mit.edu	37	2	118743575	118743575	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:118743575C>T	ENST00000376300.2	-	7	727	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.R197Q	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	197								p.R197Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AGCATGGATTCGAGATTCTTC	0.438																																					p.R197Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	2						.						210.0	197.0	201.0					2																	118743575		2203	4300	6503	118460045	SO:0001583	missense	54520	exon7			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.590G>A	2.37:g.118743575C>T	ENSP00000365477:p.Arg197Gln		118460045	NM_019044	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390051	0.61956	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.43688	0.94;0.94	4.81	4.81	0.61882	.	0.060497	0.64402	D	0.000007	T	0.32071	0.0817	L	0.41236	1.265	0.43304	D	0.995305	B	0.26081	0.141	B	0.20767	0.031	T	0.07790	-1.0754	10	0.17369	T	0.5	-8.1233	13.2505	0.60050	0.0:1.0:0.0:0.0	.	197	Q567U6	CCD93_HUMAN	Q	197	ENSP00000365477:R197Q;ENSP00000324135:R197Q	ENSP00000324135:R197Q	R	-	2	0	CCDC93	118460045	0.996000	0.38824	0.978000	0.43139	0.987000	0.75469	2.732000	0.47352	2.497000	0.84241	0.555000	0.69702	CGA		0.438	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	
C1QL2	165257	broad.mit.edu	37	2	119914509	119914509	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:119914509C>T	ENST00000272520.3	-	2	1352	c.733G>A	c.(733-735)Gcc>Acc	p.A245T		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	245	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.A245T(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CTGTTACTGGCGTAGTCGTAG	0.607										HNSCC(49;0.14)																											p.A245T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	2						.						186.0	192.0	190.0					2																	119914509		2203	4300	6503	119630979	SO:0001583	missense	165257	exon2			AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.733G>A	2.37:g.119914509C>T	ENSP00000272520:p.Ala245Thr		119630979	NM_182528		Missense_Mutation	SNP	ENST00000272520.3	37	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.747978	0.96882	.	.	ENSG00000144119	ENST00000272520	T	0.77620	-1.11	4.43	4.43	0.53597	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.64402	D	0.000001	D	0.87629	0.6225	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88276	0.2933	9	.	.	.	.	16.2162	0.82224	0.0:1.0:0.0:0.0	.	245	Q7Z5L3	C1QL2_HUMAN	T	245	ENSP00000272520:A245T	.	A	-	1	0	C1QL2	119630979	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.645000	0.83430	2.283000	0.76528	0.561000	0.74099	GCC		0.607	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528	
SCTR	6344	broad.mit.edu	37	2	120194495	120194495	+	IGR	SNP	C	C	G	rs141678483	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:120194495C>G	ENST00000019103.5	-	0	1865				TMEM37_ENST00000306406.4_Missense_Mutation_p.R18G|TMEM37_ENST00000409826.1_Missense_Mutation_p.R30G|TMEM37_ENST00000465296.1_3'UTR	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AAGGCAGCCCCGCCGGTCCTT	0.612																																					p.R18G												.	.	0			c.C52G	2						.						47.0	50.0	49.0					2																	120194495		2203	4300	6503	119910965	SO:0001628	intergenic_variant	140738	exon2				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194495C>G			119910965	NM_183240	Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	4.845	0.157111	0.09236	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.93	3.06	0.35304	.	1.223480	0.05613	N	0.578383	T	0.20373	0.0490	N	0.08118	0	0.18873	N	0.999989	B	0.31193	0.312	B	0.24974	0.057	T	0.16041	-1.0416	9	0.33141	T	0.24	-7.4281	9.2108	0.37318	0.1437:0.7791:0.0:0.0772	.	18	Q8WXS4	CCGL_HUMAN	G	30;18	.	ENSP00000303148:R18G	R	+	1	0	TMEM37	119910965	0.000000	0.05858	0.852000	0.33557	0.346000	0.29079	0.025000	0.13577	1.304000	0.44892	-0.137000	0.14449	CGC		0.612	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
EPB41L5	57669	broad.mit.edu	37	2	120833077	120833077	+	Missense_Mutation	SNP	C	C	G	rs150028843		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:120833077C>G	ENST00000263713.5	+	6	647	c.433C>G	c.(433-435)Caa>Gaa	p.Q145E	EPB41L5_ENST00000452780.1_Missense_Mutation_p.Q145E|EPB41L5_ENST00000443902.2_Missense_Mutation_p.Q145E|EPB41L5_ENST00000331393.4_Missense_Mutation_p.Q145E|EPB41L5_ENST00000443124.1_Missense_Mutation_p.Q145E	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	145	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.Q145E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TCAGTTAAAACAAGATATTCT	0.279																																					p.Q145E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C433G	2						.	C	GLU/GLN,GLU/GLN,GLU/GLN,GLU/GLN	1,4401		0,1,2200	94.0	96.0	95.0		433,433,433,433	4.7	1.0	2	dbSNP_134	95	0,8588		0,0,4294	no	missense,missense,missense,missense	EPB41L5	NM_001184937.1,NM_001184938.1,NM_001184939.1,NM_020909.3	29,29,29,29	0,1,6494	GG,GC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	145/688,145/506,145/506,145/734	120833077	1,12989	2201	4294	6495	120549547	SO:0001583	missense	57669	exon6			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.433C>G	2.37:g.120833077C>G	ENSP00000263713:p.Gln145Glu		120549547	NM_001184937	Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561354	0.45590	2.27E-4	0.0	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	4.73	4.73	0.59995	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.073760	0.52532	D	0.000065	D	0.82403	0.5029	L	0.43646	1.37	0.58432	D	0.999991	D;B;D	0.57571	0.975;0.02;0.98	P;B;P	0.61658	0.827;0.06;0.892	T	0.81558	-0.0878	10	0.36615	T	0.2	.	17.6568	0.88180	0.0:1.0:0.0:0.0	.	145;145;145	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	E	145	ENSP00000263713:Q145E;ENSP00000393856:Q145E;ENSP00000329687:Q145E;ENSP00000393722:Q145E;ENSP00000390439:Q145E	ENSP00000263713:Q145E	Q	+	1	0	EPB41L5	120549547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.277000	0.65586	2.313000	0.78055	0.555000	0.69702	CAA		0.279	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909	
GLI2	2736	broad.mit.edu	37	2	121740294	121740294	+	Silent	SNP	C	C	T	rs544791528		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:121740294C>T	ENST00000452319.1	+	11	1581	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.F507F|GLI2_ENST00000314490.11_Silent_p.F179F					GLI family zinc finger 2									p.F507F(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTTCTAGTTCGAGGGCTGCT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15550	0.0		0.0	False		,,,				2504	0.0				p.F507F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1521T	2						.						46.0	49.0	48.0					2																	121740294		2203	4300	6503	121456764	SO:0001819	synonymous_variant	2736	exon10				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1521C>T	2.37:g.121740294C>T			121456764	NM_005270		Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																				0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
CLASP1	23332	broad.mit.edu	37	2	122125272	122125272	+	Missense_Mutation	SNP	G	G	A	rs368425278		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:122125272G>A	ENST00000263710.4	-	35	4167	c.3778C>T	c.(3778-3780)Cgg>Tgg	p.R1260W	CLASP1_ENST00000541859.1_Missense_Mutation_p.R977W|CLASP1_ENST00000541377.1_Missense_Mutation_p.R1199W|CLASP1_ENST00000409078.3_Missense_Mutation_p.R1193W|CLASP1_ENST00000397587.3_Missense_Mutation_p.R1200W|CLASP1_ENST00000455322.2_Missense_Mutation_p.R1216W|CLASP1_ENST00000545861.1_Missense_Mutation_p.R967W	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1260	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.R1260W(1)		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)					TCTCGCGCCCGCGGCCCCGGG	0.612																																					p.R1193W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3577T	2						.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4015		0,1,2007	109.0	114.0	113.0		3601,3577,3595,3778	2.5	0.0	2		113	0,8316		0,0,4158	no	missense,missense,missense,missense	CLASP1	NM_001142273.1,NM_001142274.1,NM_001207051.1,NM_015282.2	101,101,101,101	0,1,6165	AA,AG,GG		0.0,0.0249,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1201/1480,1193/1472,1199/1478,1260/1539	122125272	1,12331	2008	4158	6166	121841742	SO:0001583	missense	23332	exon33			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.3778C>T	2.37:g.122125272G>A	ENSP00000263710:p.Arg1260Trp		121841742	NM_001142274	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	G	13.14	2.147003	0.37923	2.49E-4	0.0	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.50813	2.01;2.04;2.04;2.03;0.73;2.04	5.47	2.47	0.30058	Armadillo-type fold (1);	0.101500	0.64402	D	0.000002	T	0.45316	0.1336	M	0.65975	2.015	0.58432	D	0.999999	P;P;P;P	0.43314	0.703;0.803;0.703;0.787	B;B;B;B	0.39706	0.162;0.307;0.162;0.294	T	0.46789	-0.9166	10	0.87932	D	0	-9.9432	11.0824	0.48068	0.0:0.122:0.6107:0.2673	.	1193;1200;1201;1260	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	W	1260;1216;1200;1199;977;1193;967	ENSP00000263710:R1260W;ENSP00000389372:R1216W;ENSP00000380717:R1200W;ENSP00000441625:R1199W;ENSP00000441770:R977W;ENSP00000386442:R1193W	ENSP00000263710:R1260W	R	-	1	2	CLASP1	121841742	1.000000	0.71417	0.015000	0.15790	0.003000	0.03518	5.335000	0.65929	0.276000	0.22118	-0.282000	0.10007	CGG		0.612	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
CNTNAP5	129684	broad.mit.edu	37	2	125669101	125669101	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:125669101C>T	ENST00000431078.1	+	23	4074	c.3710C>T	c.(3709-3711)tCg>tTg	p.S1237L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1237					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S1237L(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)		CGAAGTGATTCGGCAGTCATC	0.398																																					p.S1237L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3710T	2						.						83.0	78.0	80.0					2																	125669101		1898	4101	5999	125385571	SO:0001583	missense	129684	exon23			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.3710C>T	2.37:g.125669101C>T	ENSP00000399013:p.Ser1237Leu		125385571	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179895	0.57800	.	.	ENSG00000155052	ENST00000431078	T	0.62639	0.01	5.69	5.69	0.88448	.	0.000000	0.42548	D	0.000700	T	0.59662	0.2210	L	0.52573	1.65	0.52099	D	0.999945	B	0.22003	0.063	B	0.12837	0.008	T	0.53872	-0.8377	10	0.41790	T	0.15	.	19.1688	0.93569	0.0:1.0:0.0:0.0	.	1237	Q8WYK1	CNTP5_HUMAN	L	1237	ENSP00000399013:S1237L	ENSP00000399013:S1237L	S	+	2	0	CNTNAP5	125385571	0.998000	0.40836	0.963000	0.40424	0.732000	0.41865	5.042000	0.64202	2.840000	0.97914	0.655000	0.94253	TCG		0.398	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
ERCC3	2071	broad.mit.edu	37	2	128028957	128028957	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:128028957G>A	ENST00000285398.2	-	12	1994	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	ERCC3_ENST00000493187.2_Missense_Mutation_p.R570C	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	634	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.R634C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCTTCCTGACGCCTGGAGCCA	0.478			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.R634C		yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1900T	2						.						144.0	139.0	141.0					2																	128028957		2203	4300	6503	127745427	SO:0001583	missense	2071	exon12	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1900C>T	2.37:g.128028957G>A	ENSP00000285398:p.Arg634Cys		127745427	NM_000122	Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705622	0.68615	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.76316	-1.01;-1.01	4.86	-0.9	0.10544	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90417	0.7000	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92630	0.6115	10	0.87932	D	0	-25.0055	16.0323	0.80588	0.0:0.0:0.1978:0.8022	.	634	P19447	ERCC3_HUMAN	C	634;570	ENSP00000285398:R634C;ENSP00000444796:R570C	ENSP00000285398:R634C	R	-	1	0	ERCC3	127745427	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	1.810000	0.38932	0.009000	0.14813	-0.188000	0.12872	CGT		0.478	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	
MAP3K2	10746	broad.mit.edu	37	2	128075798	128075798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:128075798C>A	ENST00000409947.1	-	13	1423	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	RNU6-1147P_ENST00000363380.1_RNA|MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.E381*			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.E381*(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	ACAGCCAATTCTCTTCCTGTA	0.438																																					p.E381X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1141T	2						.						109.0	106.0	107.0					2																	128075798		1862	4093	5955	127792268	SO:0001587	stop_gained	10746	exon12			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1141G>T	2.37:g.128075798C>A	ENSP00000387246:p.Glu381*		127792268	NM_006609	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Nonsense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	C	39	7.772382	0.98480	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	.	.	.	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.6685	0.85259	0.0:0.8701:0.1299:0.0	.	.	.	.	X	381	.	ENSP00000343463:E381X	E	-	1	0	MAP3K2	127792268	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.734000	0.84928	1.389000	0.46526	-0.291000	0.09656	GAA		0.438	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609	
TRIB2	28951	broad.mit.edu	37	2	12880896	12880896	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:12880896G>T	ENST00000155926.4	+	3	2427	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	TRIB2_ENST00000381465.2_Missense_Mutation_p.E200D	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.E336D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACATGGAAGAGAACTTGGACC	0.527																																					p.E336D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1008T	2						.						76.0	70.0	72.0					2																	12880896		2203	4300	6503	12798347	SO:0001583	missense	28951	exon3			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.1008G>T	2.37:g.12880896G>T	ENSP00000155926:p.Glu336Asp		12798347	NM_021643		Missense_Mutation	SNP	ENST00000155926.4	37	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	9.127	1.010488	0.19277	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.48201	0.83;0.82	5.94	4.96	0.65561	Protein kinase-like domain (1);	0.089067	0.85682	D	0.000000	T	0.31606	0.0802	L	0.29908	0.895	0.80722	D	1	B	0.14805	0.011	B	0.14023	0.01	T	0.10870	-1.0611	10	0.20519	T	0.43	-27.8787	8.0708	0.30689	0.1552:0.0:0.8448:0.0	.	336	Q92519	TRIB2_HUMAN	D	336;200	ENSP00000155926:E336D;ENSP00000370874:E200D	ENSP00000155926:E336D	E	+	3	2	TRIB2	12798347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.628000	0.46477	2.820000	0.97059	0.650000	0.86243	GAG		0.527	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643	
MAP3K2	10746	broad.mit.edu	37	2	128081755	128081755	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:128081755A>C	ENST00000409947.1	-	10	1022	c.740T>G	c.(739-741)tTt>tGt	p.F247C	MAP3K2_ENST00000344908.5_Missense_Mutation_p.F247C			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	247					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.F247C(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	CTAACCTGAAAATTCCTGATG	0.343																																					p.F247C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T740G	2						.						23.0	21.0	22.0					2																	128081755		1795	4069	5864	127798225	SO:0001583	missense	10746	exon9			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.740T>G	2.37:g.128081755A>C	ENSP00000387246:p.Phe247Cys		127798225	NM_006609	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198145	0.38806	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.41400	1.0;1.0	5.64	5.64	0.86602	.	0.049763	0.85682	D	0.000000	T	0.32823	0.0842	L	0.28274	0.84	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.06267	-1.0836	10	0.30854	T	0.27	.	15.854	0.78960	1.0:0.0:0.0:0.0	.	247	Q9Y2U5	M3K2_HUMAN	C	247	ENSP00000387246:F247C;ENSP00000343463:F247C	ENSP00000343463:F247C	F	-	2	0	MAP3K2	127798225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.907000	0.92634	2.142000	0.66516	0.528000	0.53228	TTT		0.343	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609	
LIMS2	55679	broad.mit.edu	37	2	128396984	128396984	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:128396984C>T	ENST00000355119.4	-	10	1063	c.898G>A	c.(898-900)Gac>Aac	p.D300N	LIMS2_ENST00000409254.1_Missense_Mutation_p.D148N|LIMS2_ENST00000545738.2_Missense_Mutation_p.D322N|LIMS2_ENST00000410038.1_Missense_Mutation_p.D148N|LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000410011.1_Missense_Mutation_p.D295N|LIMS2_ENST00000409286.1_Missense_Mutation_p.D148N|LIMS2_ENST00000409455.1_Missense_Mutation_p.D295N|LIMS2_ENST00000409754.1_Missense_Mutation_p.D148N|LIMS2_ENST00000409808.2_Missense_Mutation_p.D295N|LIMS2_ENST00000324938.5_Missense_Mutation_p.D324N	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	300	LIM zinc-binding 5. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.D324N(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GGCTTCATGTCGAACTCCACA	0.597																																					p.D322N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964A	2						.						168.0	166.0	167.0					2																	128396984		2203	4300	6503	128113454	SO:0001583	missense	55679	exon11			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.898G>A	2.37:g.128396984C>T	ENSP00000347240:p.Asp300Asn		128113454	NM_001136037	A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	c	35	5.476924	0.96291	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000409286;ENST00000409754;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000342067;ENST00000537572;ENST00000410038;ENST00000544917;ENST00000409254	D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	4.85	4.85	0.62838	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.94182	0.8133	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.81914	0.946;0.995;0.992	D	0.93712	0.7025	10	0.39692	T	0.17	.	17.979	0.89134	0.0:1.0:0.0:0.0	.	322;300;324	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	N	322;300;148;148;324;295;295;295;295;208;148;148;322;148	ENSP00000443794:D322N;ENSP00000347240:D300N;ENSP00000386252:D148N;ENSP00000386345:D148N;ENSP00000326888:D324N;ENSP00000386383:D295N;ENSP00000386637:D295N;ENSP00000387002:D295N;ENSP00000386570:D148N;ENSP00000386907:D148N	ENSP00000326888:D324N	D	-	1	0	LIMS2	128113454	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	7.750000	0.85110	2.221000	0.72209	0.591000	0.81541	GAC		0.597	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980	
SAP130	79595	broad.mit.edu	37	2	128757316	128757316	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:128757316G>A	ENST00000259235.3	-	10	1419	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	SAP130_ENST00000259234.6_Splice_Site_p.V404V|SAP130_ENST00000357702.5_Splice_Site_p.V430V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	430					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.V430V(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GCCACTTACCGACTGGGATGT	0.512																																					p.V430V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1290T	2						.						165.0	140.0	148.0					2																	128757316		2203	4300	6503	128473786	SO:0001630	splice_region_variant	79595	exon10			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1291+1C>T	2.37:g.128757316G>A			128473786	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	CCDS2153.1																																																																																				0.512	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	Silent
UGGT1	56886	broad.mit.edu	37	2	128890752	128890752	+	Missense_Mutation	SNP	C	C	T	rs183821104		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:128890752C>T	ENST00000259253.6	+	14	1462	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L	UGGT1_ENST00000375990.3_Missense_Mutation_p.S448L	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	472					'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)			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						AGATATAATTCGTGGCCTTCT	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19172	0.0		0.0	False		,,,				2504	0.0				p.S472L												.	.	0			c.C1415T	2						.	C	LEU/SER	0,4406		0,0,2203	193.0	191.0	192.0		1415	5.5	0.4	2		192	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UGGT1	NM_020120.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	472/1556	128890752	1,13005	2203	4300	6503	128607222	SO:0001583	missense	56886	exon14			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.1415C>T	2.37:g.128890752C>T	ENSP00000259253:p.Ser472Leu		128607222	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.31	3.594973	0.66219	0.0	1.16E-4	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.58358	0.34;0.34	5.52	5.52	0.82312	.	0.055766	0.85682	D	0.000000	T	0.58192	0.2105	L	0.55834	1.745	0.80722	D	1	D;P	0.56035	0.974;0.946	P;B	0.48454	0.578;0.296	T	0.55471	-0.8136	10	0.33940	T	0.23	.	19.4558	0.94889	0.0:1.0:0.0:0.0	.	448;472	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	L	448;472	ENSP00000365158:S448L;ENSP00000259253:S472L	ENSP00000259253:S472L	S	+	2	0	UGGT1	128607222	1.000000	0.71417	0.365000	0.25901	0.988000	0.76386	7.377000	0.79668	2.611000	0.88343	0.655000	0.94253	TCG		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
TUBA3E	112714	broad.mit.edu	37	2	130951926	130951926	+	Missense_Mutation	SNP	C	C	A	rs200389429		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:130951926C>A	ENST00000312988.7	-	4	589	c.489G>T	c.(487-489)aaG>aaT	p.K163N		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	163					microtubule-based process (GO:0007017)|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.K163N(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCTTGGACTTCTTGCTGTAAT	0.587																																					p.K163N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G489T	2						.						101.0	106.0	104.0					2																	130951926		2202	4298	6500	130668396	SO:0001583	missense	112714	exon4			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.489G>T	2.37:g.130951926C>A	ENSP00000318197:p.Lys163Asn		130668396	NM_207312		Missense_Mutation	SNP	ENST00000312988.7	37	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.780118	0.31502	.	.	ENSG00000152086	ENST00000312988	T	0.70631	-0.5	2.71	2.71	0.32032	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.52532	U	0.000077	D	0.86293	0.5898	H	0.94183	3.505	0.43971	D	0.996652	D	0.54047	0.964	D	0.68621	0.959	D	0.88944	0.3382	10	0.87932	D	0	.	11.1953	0.48709	0.0:1.0:0.0:0.0	.	163	Q6PEY2	TBA3E_HUMAN	N	163	ENSP00000318197:K163N	ENSP00000318197:K163N	K	-	3	2	TUBA3E	130668396	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	1.858000	0.39408	1.540000	0.49301	0.449000	0.29647	AAG		0.587	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312	
AMER3	205147	broad.mit.edu	37	2	131520421	131520421	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:131520421C>T	ENST00000423981.1	+	2	886	c.776C>T	c.(775-777)tCg>tTg	p.S259L	AMER3_ENST00000321420.4_Missense_Mutation_p.S259L	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	259					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S259L(1)|p.S259*(1)									GATGAGAGCTCGGTGCCATCT	0.647																																					p.S259L												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.C776T	2						.						52.0	59.0	57.0					2																	131520421		2203	4300	6503	131236891	SO:0001583	missense	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.776C>T	2.37:g.131520421C>T	ENSP00000392700:p.Ser259Leu		131236891	NM_001105195	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573856	0.45902	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.43294	0.95;0.95	5.21	5.21	0.72293	.	0.308918	0.32106	N	0.006564	T	0.43188	0.1236	M	0.63428	1.95	0.29908	N	0.823818	P	0.47484	0.896	B	0.43478	0.421	T	0.54016	-0.8356	10	0.54805	T	0.06	.	11.6944	0.51536	0.1768:0.8232:0.0:0.0	.	259	Q8N944	F123C_HUMAN	L	259	ENSP00000314914:S259L;ENSP00000392700:S259L	ENSP00000314914:S259L	S	+	2	0	FAM123C	131236891	0.983000	0.35010	0.971000	0.41717	0.047000	0.14425	2.858000	0.48356	2.597000	0.87782	0.561000	0.74099	TCG		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
POTEE	445582	broad.mit.edu	37	2	131976097	131976097	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:131976097G>A	ENST00000356920.5	+	1	216	c.122G>A	c.(121-123)aGc>aAc	p.S41N	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S41N|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	41					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S41N(1)									AGCGGCAAGAGCAACGTGGGC	0.592																																					p.S41N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G122A	2						.						130.0	151.0	144.0					2																	131976097		2192	4298	6490	131692567	SO:0001583	missense	445582	exon1			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.122G>A	2.37:g.131976097G>A	ENSP00000439189:p.Ser41Asn		131692567	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.360	0.624598	0.14193	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.80033	-1.33;1.29	0.1	0.1	0.14510	.	.	.	.	.	T	0.63058	0.2479	N	0.08118	0	0.09310	N	1	B	0.30211	0.273	B	0.35899	0.213	T	0.57481	-0.7804	8	0.87932	D	0	.	.	.	.	.	41	Q6S8J3	POTEE_HUMAN	N	41	ENSP00000439189:S41N;ENSP00000443049:S41N	ENSP00000439189:S41N	S	+	2	0	AC131180.1	131692567	0.016000	0.18221	0.040000	0.18447	0.040000	0.13550	0.240000	0.18042	0.170000	0.19704	0.173000	0.16961	AGC		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
CCNT2	905	broad.mit.edu	37	2	135694522	135694522	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:135694522C>T	ENST00000264157.5	+	3	382	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	CCNT2_ENST00000295238.6_Silent_p.L118L|CCNT2_ENST00000537343.1_5'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	118					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L118L(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGAGCCACTGCTGGATACTAA	0.338																																					p.L118L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C352T	2						.						130.0	131.0	131.0					2																	135694522		2203	4300	6503	135410992	SO:0001819	synonymous_variant	905	exon3			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.352C>T	2.37:g.135694522C>T			135410992	NM_058241	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Silent	SNP	ENST00000264157.5	37	CCDS2174.1																																																																																				0.338	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241	
LCT	3938	broad.mit.edu	37	2	136570187	136570187	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:136570187G>T	ENST00000264162.2	-	7	2057	c.2047C>A	c.(2047-2049)Ctg>Atg	p.L683M	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	683	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.L683M(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)	TAATGCGACAGACCCAGAAAA	0.537																																					p.L683M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2047A	2						.						100.0	93.0	95.0					2																	136570187		2203	4300	6503	136286657	SO:0001583	missense	3938	exon7			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.2047C>A	2.37:g.136570187G>T	ENSP00000264162:p.Leu683Met		136286657	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250141	0.59212	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.40476	1.03	5.49	4.61	0.57282	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.163089	0.41712	D	0.000840	T	0.58566	0.2131	M	0.62088	1.915	0.38050	D	0.935753	D	0.89917	1.0	D	0.87578	0.998	T	0.64326	-0.6434	10	0.72032	D	0.01	-13.0323	9.4874	0.38937	0.0725:0.0:0.786:0.1415	.	683	P09848	LPH_HUMAN	M	683;115	ENSP00000264162:L683M	ENSP00000264162:L683M	L	-	1	2	LCT	136286657	0.986000	0.35501	1.000000	0.80357	0.981000	0.71138	1.798000	0.38814	1.297000	0.44761	0.655000	0.94253	CTG		0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
MCM6	4175	broad.mit.edu	37	2	136622613	136622613	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:136622613G>T	ENST00000264156.2	-	7	1108	c.1048C>A	c.(1048-1050)Ctt>Att	p.L350I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	350	MCM.				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)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.L350I(1)|p.L350F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CTGGTACAAAGATTGTGGTAT	0.358																																					p.L350I	Ovarian(196;141 2104 8848 24991 25939)											.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C1048A	2						.						166.0	156.0	159.0					2																	136622613		2203	4300	6503	136339083	SO:0001583	missense	4175	exon7				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1048C>A	2.37:g.136622613G>T	ENSP00000264156:p.Leu350Ile		136339083	NM_005915	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366341	0.82463	.	.	ENSG00000076003	ENST00000264156	T	0.08984	3.03	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.31207	0.915	0.80722	D	1	P	0.35944	0.529	B	0.41619	0.361	T	0.19516	-1.0303	10	0.40728	T	0.16	-14.7948	14.7101	0.69225	0.0695:0.0:0.9305:0.0	.	350	Q14566	MCM6_HUMAN	I	350	ENSP00000264156:L350I	ENSP00000264156:L350I	L	-	1	0	MCM6	136339083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.408000	0.97327	1.433000	0.47394	0.557000	0.71058	CTT		0.358	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	
THSD7B	80731	broad.mit.edu	37	2	137814655	137814655	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:137814655T>G	ENST00000409968.1	+	3	983	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	THSD7B_ENST00000413152.2_Missense_Mutation_p.F238V|THSD7B_ENST00000543459.1_Missense_Mutation_p.F128V|THSD7B_ENST00000272643.3_Missense_Mutation_p.F269V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	269						integral component of membrane (GO:0016021)		p.F269V(1)		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)		TGTTCTGGATTTTAACTCTGA	0.388																																					p.F238V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T712G	2						.						106.0	105.0	105.0					2																	137814655		1868	4108	5976	137531125	SO:0001583	missense	80731	exon2					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.805T>G	2.37:g.137814655T>G	ENSP00000387145:p.Phe269Val		137531125	NM_001080427		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	T	15.28	2.786780	0.49997	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.23348	2.51;2.36;1.97;1.91	5.45	2.96	0.34315	.	0.144445	0.64402	N	0.000005	T	0.40886	0.1135	M	0.71581	2.175	0.45946	D	0.99877	D;D	0.69078	0.994;0.997	P;D	0.71414	0.902;0.973	T	0.32851	-0.9891	10	0.16420	T	0.52	.	7.1057	0.25362	0.0:0.0718:0.2834:0.6448	.	269;238	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	269;269;238;128	ENSP00000387145:F269V;ENSP00000272643:F269V;ENSP00000413841:F238V;ENSP00000443370:F128V	ENSP00000272643:F269V	F	+	1	0	THSD7B	137531125	1.000000	0.71417	0.993000	0.49108	0.627000	0.37826	4.729000	0.62008	0.406000	0.25560	0.477000	0.44152	TTT		0.388	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
NXPH2	11249	broad.mit.edu	37	2	139428724	139428724	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:139428724C>T	ENST00000272641.3	-	2	669	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	188	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.R188H(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATACTCAATGCGACAATTGAA	0.478																																					p.R188H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G563A	2						.						59.0	58.0	59.0					2																	139428724		1880	4096	5976	139145194	SO:0001583	missense	11249	exon2			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.563G>A	2.37:g.139428724C>T	ENSP00000272641:p.Arg188His		139145194	NM_007226	B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549860	0.45383	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.66	4.78	0.61160	.	0.048936	0.85682	N	0.000000	T	0.60457	0.2270	M	0.64170	1.965	0.58432	D	0.999991	B	0.28801	0.223	B	0.32149	0.141	T	0.57985	-0.7716	8	.	.	.	-8.6021	13.9695	0.64230	0.0:0.9264:0.0:0.0736	.	188	O95156	NXPH2_HUMAN	H	188	.	.	R	-	2	0	NXPH2	139145194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.903000	0.63272	1.507000	0.48752	0.655000	0.94253	CGC		0.478	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1		
LRP1B	53353	broad.mit.edu	37	2	141004683	141004683	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:141004683C>A	ENST00000389484.3	-	87	14267	c.13296G>T	c.(13294-13296)aaG>aaT	p.K4432N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4432					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.K4432N(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)		ACTTGCTGCTCTTTGGGGCTG	0.383										TSP Lung(27;0.18)																											p.K4432N	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13296T	2						.						112.0	104.0	107.0					2																	141004683		2203	4300	6503	140721153	SO:0001583	missense	53353	exon87			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.13296G>T	2.37:g.141004683C>A	ENSP00000374135:p.Lys4432Asn		140721153	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.58|14.58	2.576703|2.576703	0.45902|0.45902	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90324|.	-2.65|.	5.8|5.8	1.48|1.48	0.22813|0.22813	.|.	0.128699|.	0.50627|.	D|.	0.000118|.	T|T	0.41096|0.41096	0.1144|0.1144	N|N	0.24115|0.24115	0.695|0.695	0.34670|0.34670	D|D	0.723638|0.723638	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.45041|0.45041	-0.9288|-0.9288	10|5	0.20519|.	T|.	0.43|.	.|.	10.8354|10.8354	0.46683|0.46683	0.0:0.6553:0.0:0.3447|0.0:0.6553:0.0:0.3447	.|.	4432|.	Q9NZR2|.	LRP1B_HUMAN|.	N|I	4432;4370|664;202	ENSP00000374135:K4432N|.	ENSP00000374135:K4432N|.	K|R	-|-	3|2	2|0	LRP1B|LRP1B	140721153|140721153	0.999000|0.999000	0.42202|0.42202	0.958000|0.958000	0.39756|0.39756	0.847000|0.847000	0.48162|0.48162	0.624000|0.624000	0.24462|0.24462	-0.014000|-0.014000	0.14175|0.14175	-0.808000|-0.808000	0.03180|0.03180	AAG|AGA		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141242921	141242921	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:141242921G>T	ENST00000389484.3	-	59	10387	c.9416C>A	c.(9415-9417)cCt>cAt	p.P3139H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3139					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.P3139H(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)		CCCAGCTTGAGGATCTAAAGA	0.333										TSP Lung(27;0.18)																											p.P3139H	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9416A	2						.						91.0	88.0	89.0					2																	141242921		2203	4300	6503	140959391	SO:0001583	missense	53353	exon59			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.9416C>A	2.37:g.141242921G>T	ENSP00000374135:p.Pro3139His		140959391	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600780	0.66332	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95588	-3.75	5.26	5.26	0.73747	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073238	0.56097	U	0.000032	D	0.96880	0.8981	M	0.84846	2.72	0.38466	D	0.947336	D	0.69078	0.997	P	0.55667	0.781	D	0.97875	1.0288	10	0.72032	D	0.01	.	12.5659	0.56310	0.0768:0.0:0.9232:0.0	.	3139	Q9NZR2	LRP1B_HUMAN	H	3139;3077	ENSP00000374135:P3139H	ENSP00000374135:P3139H	P	-	2	0	LRP1B	140959391	1.000000	0.71417	0.984000	0.44739	0.851000	0.48451	7.556000	0.82233	2.595000	0.87683	0.655000	0.94253	CCT		0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141250251	141250251	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:141250251A>C	ENST00000389484.3	-	57	10017	c.9046T>G	c.(9046-9048)Ttt>Gtt	p.F3016V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3016					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.F3016V(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)		AGAATTAAAAAAGGTTCTTCA	0.348										TSP Lung(27;0.18)																											p.F3016V	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9046G	2						.						162.0	147.0	152.0					2																	141250251		2203	4300	6503	140966721	SO:0001583	missense	53353	exon57			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.9046T>G	2.37:g.141250251A>C	ENSP00000374135:p.Phe3016Val		140966721	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276212	0.59649	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92149	-2.98	5.11	5.11	0.69529	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89339	0.6687	L	0.54908	1.71	0.48087	D	0.999585	P	0.38827	0.649	B	0.36186	0.219	D	0.88532	0.3103	10	0.35671	T	0.21	.	14.8663	0.70419	1.0:0.0:0.0:0.0	.	3016	Q9NZR2	LRP1B_HUMAN	V	3016;2954	ENSP00000374135:F3016V	ENSP00000374135:F3016V	F	-	1	0	LRP1B	140966721	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.989000	0.76219	1.921000	0.55644	0.377000	0.23210	TTT		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141283813	141283813	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:141283813C>A	ENST00000389484.3	-	48	8840	c.7869G>T	c.(7867-7869)aaG>aaT	p.K2623N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2623	LDL-receptor class A 13. {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.K2623N(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)		TACTGCAGTTCTTTTCATCTG	0.433										TSP Lung(27;0.18)																											p.K2623N	Colon(99;50 2074 2507 20106)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7869T	2						.						162.0	137.0	146.0					2																	141283813		2203	4300	6503	141000283	SO:0001583	missense	53353	exon48			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.7869G>T	2.37:g.141283813C>A	ENSP00000374135:p.Lys2623Asn		141000283	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138103	0.56936	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95821	-3.82	5.08	4.1	0.47936	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	L	0.31294	0.92	0.39350	D	0.965736	D	0.67145	0.996	D	0.64321	0.924	D	0.91831	0.5475	10	0.17832	T	0.49	.	10.9158	0.47135	0.0:0.8374:0.0:0.1626	.	2623	Q9NZR2	LRP1B_HUMAN	N	2623;2561	ENSP00000374135:K2623N	ENSP00000374135:K2623N	K	-	3	2	LRP1B	141000283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.411000	0.34702	1.331000	0.45412	0.650000	0.86243	AAG		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141298560	141298560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:141298560C>A	ENST00000389484.3	-	45	8466	c.7495G>T	c.(7495-7497)Gag>Tag	p.E2499*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2499	EGF-like 10. {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.E2499*(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)		CTGTTGTCCTCTAGCAATATT	0.403										TSP Lung(27;0.18)																											p.E2499X	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7495T	2						.						163.0	151.0	155.0					2																	141298560		2203	4300	6503	141015030	SO:0001587	stop_gained	53353	exon45			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.7495G>T	2.37:g.141298560C>A	ENSP00000374135:p.Glu2499*		141015030	NM_018557	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	54	22.666905	0.99950	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.93	5.06	0.68205	.	0.215657	0.39146	N	0.001449	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	11.4323	0.50047	0.0:0.862:0.0:0.138	.	.	.	.	X	2499;2437	.	ENSP00000374135:E2499X	E	-	1	0	LRP1B	141015030	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.005000	0.57075	1.522000	0.49001	0.655000	0.94253	GAG		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141299411	141299411	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:141299411G>T	ENST00000389484.3	-	44	8295	c.7324C>A	c.(7324-7326)Ctt>Att	p.L2442I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2442					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.L2442I(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)		TCGGAACGAAGAATTTTTGTA	0.398										TSP Lung(27;0.18)																											p.L2442I	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7324A	2						.						168.0	157.0	161.0					2																	141299411		2203	4299	6502	141015881	SO:0001583	missense	53353	exon44			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.7324C>A	2.37:g.141299411G>T	ENSP00000374135:p.Leu2442Ile		141015881	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568496	0.86439	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90732	-2.72	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000004	D	0.93416	0.7900	L	0.47016	1.485	0.58432	D	0.999996	D	0.69078	0.997	D	0.78314	0.991	D	0.91300	0.5066	10	0.25106	T	0.35	.	19.2763	0.94032	0.0:0.0:1.0:0.0	.	2442	Q9NZR2	LRP1B_HUMAN	I	2442;2380	ENSP00000374135:L2442I	ENSP00000374135:L2442I	L	-	1	0	LRP1B	141015881	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.808000	0.99193	2.548000	0.85928	0.484000	0.47621	CTT		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141707944	141707944	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:141707944T>G	ENST00000389484.3	-	20	3967	c.2996A>C	c.(2995-2997)gAg>gCg	p.E999A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	999	LDL-receptor class A 6. {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.E999A(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)		ACAGCCCACCTCATCACTCCC	0.458										TSP Lung(27;0.18)																											p.E999A	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2996C	2						.						116.0	81.0	93.0					2																	141707944		2203	4300	6503	141424414	SO:0001583	missense	53353	exon20			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.2996A>C	2.37:g.141707944T>G	ENSP00000374135:p.Glu999Ala		141424414	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	32	5.135775	0.94517	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99105	-5.43;-5.43	5.8	5.8	0.92144	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99670	0.9877	H	0.99404	4.55	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.97110	1.0;0.987	D	0.97174	0.9846	10	0.87932	D	0	.	16.1606	0.81704	0.0:0.0:0.0:1.0	.	182;999	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	A	999;937;144	ENSP00000374135:E999A;ENSP00000413239:E144A	ENSP00000374135:E999A	E	-	2	0	LRP1B	141424414	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.949000	0.87791	2.227000	0.72691	0.460000	0.39030	GAG		0.458	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141739827	141739827	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:141739827T>C	ENST00000389484.3	-	18	3760	c.2789A>G	c.(2788-2790)gAc>gGc	p.D930G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	930	LDL-receptor class A 5. {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)			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)		AGAAAACTGGTCTACCTGGCA	0.413										TSP Lung(27;0.18)																											p.D930G	Colon(99;50 2074 2507 20106)											.	.	0			c.A2789G	2						.						110.0	98.0	102.0					2																	141739827		2203	4300	6503	141456297	SO:0001583	missense	53353	exon18			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.2789A>G	2.37:g.141739827T>C	ENSP00000374135:p.Asp930Gly		141456297	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.847036	0.51164	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95588	-3.75;-3.75	5.43	5.43	0.79202	.	0.070055	0.56097	U	0.000037	D	0.86952	0.6057	N	0.02213	-0.635	0.43050	D	0.994658	B;B	0.10296	0.002;0.003	B;B	0.15484	0.013;0.011	T	0.83192	-0.0083	10	0.18710	T	0.47	.	15.4805	0.75521	0.0:0.0:0.0:1.0	.	113;930	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	G	930;868;75	ENSP00000374135:D930G;ENSP00000413239:D75G	ENSP00000374135:D930G	D	-	2	0	LRP1B	141456297	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	4.452000	0.60054	2.053000	0.61076	0.533000	0.62120	GAC		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
ZEB2	9839	broad.mit.edu	37	2	145157472	145157472	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:145157472C>T	ENST00000558170.2	-	8	2466	c.1282G>A	c.(1282-1284)Gtt>Att	p.V428I	ZEB2_ENST00000539609.3_Missense_Mutation_p.V404I|ZEB2_ENST00000303660.4_Missense_Mutation_p.V428I|ZEB2_ENST00000409487.3_Missense_Mutation_p.V428I	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	428					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.V428L(1)|p.V428I(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)		GATGGATGAACTCCTAAAGGG	0.458																																					p.V404I	Melanoma(33;1235 1264 5755 16332)											.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G1210A	2						.						64.0	69.0	67.0					2																	145157472		2203	4300	6503	144873942	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.1282G>A	2.37:g.145157472C>T	ENSP00000454157:p.Val428Ile		144873942	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	3.246	-0.154271	0.06585	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.12879	2.66;2.64;2.64;2.79;2.78	5.53	5.53	0.82687	.	0.113341	0.64402	D	0.000008	T	0.05181	0.0138	N	0.01576	-0.805	0.44275	D	0.997135	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.13407	0.009;0.001;0.0;0.002	T	0.44682	-0.9312	10	0.15066	T	0.55	-7.6837	12.7659	0.57391	0.0:0.925:0.0:0.075	.	404;293;427;428	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	I	404;428;428;428;428	ENSP00000443792:V404I;ENSP00000302501:V428I;ENSP00000386854:V428I;ENSP00000395496:V428I;ENSP00000376601:V428I	ENSP00000302501:V428I	V	-	1	0	ZEB2	144873942	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.644000	0.46613	2.587000	0.87381	0.655000	0.94253	GTT		0.458	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ZEB2	9839	broad.mit.edu	37	2	145158777	145158777	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:145158777C>T	ENST00000558170.2	-	7	2089	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	ZEB2_ENST00000539609.3_Missense_Mutation_p.R278Q|ZEB2_ENST00000303660.4_Missense_Mutation_p.R302Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.R302Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	302					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.R302Q(2)		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)		ACTGTGAATTCGCAGGTGTTC	0.408																																					p.R278Q	Melanoma(33;1235 1264 5755 16332)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G833A	2						.						133.0	127.0	129.0					2																	145158777		2203	4300	6503	144875247	SO:0001583	missense	9839	exon6			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.905G>A	2.37:g.145158777C>T	ENSP00000454157:p.Arg302Gln		144875247	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.630758|4.630758	0.87660|0.87660	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000419938|ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.|T;T;T;T;T	.|0.24723	.|1.84;1.84;1.84;1.84;1.84	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51210|0.51210	0.1661|0.1661	M|M	0.64080|0.64080	1.96|1.96	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.998;0.997	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.986;0.992;0.979	T|T	0.52403|0.52403	-0.8580|-0.8580	5|10	.|0.87932	.|D	.|0	-5.1874|-5.1874	19.0474|19.0474	0.93027|0.93027	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|278;167;278;301;302	.|F5H814;Q53TD9;B7Z2P2;A0JP08;O60315	.|.;.;.;.;ZEB2_HUMAN	K|Q	191|297;278;302;302;302;302	.|ENSP00000443792:R278Q;ENSP00000302501:R302Q;ENSP00000386854:R302Q;ENSP00000395496:R302Q;ENSP00000376601:R302Q	.|ENSP00000302501:R302Q	E|R	-|-	1|2	0|0	ZEB2|ZEB2	144875247|144875247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.523000|2.523000	0.85059|0.85059	0.491000|0.491000	0.48974|0.48974	GAA|CGA		0.408	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ZEB2	9839	broad.mit.edu	37	2	145161532	145161532	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:145161532C>T	ENST00000558170.2	-	6	1942	c.758G>A	c.(757-759)cGc>cAc	p.R253H	ZEB2_ENST00000539609.3_Missense_Mutation_p.R229H|ZEB2_ENST00000303660.4_Missense_Mutation_p.R253H|ZEB2_ENST00000409487.3_Missense_Mutation_p.R253H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	253					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.R253H(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)		GAGCTGGGTGCGGTAGGCAAA	0.488																																					p.R229H	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	2						.						213.0	208.0	209.0					2																	145161532		2203	4300	6503	144878002	SO:0001583	missense	9839	exon5			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.758G>A	2.37:g.145161532C>T	ENSP00000454157:p.Arg253His		144878002	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.495403|4.495403	0.85069|0.85069	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000419938|ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.|T;T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57;1.57	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52289|0.52289	0.1725|0.1725	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D	.|0.91635	.|0.999;0.997;0.996;0.997;0.994	T|T	0.51180|0.51180	-0.8738|-0.8738	5|10	.|0.87932	.|D	.|0	-8.7482|-8.7482	19.7329|19.7329	0.96190|0.96190	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|229;118;229;252;253	.|F5H814;Q53TD9;B7Z2P2;A0JP08;O60315	.|.;.;.;.;ZEB2_HUMAN	T|H	142|248;229;253;253;253;253	.|ENSP00000443792:R229H;ENSP00000302501:R253H;ENSP00000386854:R253H;ENSP00000395496:R253H;ENSP00000376601:R253H	.|ENSP00000302501:R253H	A|R	-|-	1|2	0|0	ZEB2|ZEB2	144878002|144878002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.487000|7.487000	0.81328|0.81328	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.488	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ACVR2A	92	broad.mit.edu	37	2	148677873	148677873	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:148677873A>C	ENST00000241416.7	+	8	1673	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	ACVR2A_ENST00000404590.1_Missense_Mutation_p.K346T|ACVR2A_ENST00000535787.1_Missense_Mutation_p.K238T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K346T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGGCCTTAAAATTTGAGGCT	0.353																																					p.K346T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1037C	2						.						89.0	93.0	92.0					2																	148677873		2203	4300	6503	148394343	SO:0001583	missense	92	exon8				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1037A>C	2.37:g.148677873A>C	ENSP00000241416:p.Lys346Thr		148394343	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384536	0.61845	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.67171	-0.25;-0.25;-0.25	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.090091	0.85682	D	0.000000	T	0.55529	0.1926	L	0.31752	0.955	0.52501	D	0.999956	B	0.24317	0.101	B	0.30316	0.114	T	0.55134	-0.8188	10	0.46703	T	0.11	.	10.339	0.43866	0.9266:0.0:0.0734:0.0	.	346	P27037	AVR2A_HUMAN	T	346;238;346	ENSP00000241416:K346T;ENSP00000439988:K238T;ENSP00000384338:K346T	ENSP00000241416:K346T	K	+	2	0	ACVR2A	148394343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.294000	0.65687	2.236000	0.73375	0.533000	0.62120	AAA		0.353	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
ACVR2A	92	broad.mit.edu	37	2	148680590	148680590	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:148680590A>C	ENST00000241416.7	+	9	1762	c.1126A>C	c.(1126-1128)Aac>Cac	p.N376H	ACVR2A_ENST00000404590.1_Missense_Mutation_p.N376H|ACVR2A_ENST00000535787.1_Missense_Mutation_p.N268H	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	376	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.N376H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGGTGCTATAAACTTCCAAAG	0.418																																					p.N376H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1126C	2						.						191.0	195.0	193.0					2																	148680590		2203	4300	6503	148397060	SO:0001583	missense	92	exon9				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1126A>C	2.37:g.148680590A>C	ENSP00000241416:p.Asn376His		148397060	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494802	0.85069	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.66638	-0.22;-0.22;-0.22	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.62209	1.925	0.80722	D	1	D	0.69078	0.997	P	0.62184	0.899	T	0.80542	-0.1336	10	0.87932	D	0	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	376	P27037	AVR2A_HUMAN	H	376;268;376	ENSP00000241416:N376H;ENSP00000439988:N268H;ENSP00000384338:N376H	ENSP00000241416:N376H	N	+	1	0	ACVR2A	148397060	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.090000	0.76916	2.371000	0.80710	0.533000	0.62120	AAC		0.418	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
LYPD6B	130576	broad.mit.edu	37	2	150061778	150061778	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:150061778C>T	ENST00000409029.1	+	4	219	c.17C>T	c.(16-18)tCg>tTg	p.S6L	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.S30L|LYPD6B_ENST00000409642.3_Missense_Mutation_p.S30L|LYPD6B_ENST00000409876.1_Missense_Mutation_p.S6L			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	6						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S30L(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TATAAGAGTTCGGACCGCCCA	0.453																																					p.S30L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C89T	2						.						90.0	92.0	92.0					2																	150061778		2065	4201	6266	149770024	SO:0001583	missense	130576	exon4				CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.17C>T	2.37:g.150061778C>T	ENSP00000386650:p.Ser6Leu		149770024	NM_177964	D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37		.	.	.	.	.	.	.	.	.	.	C	13.19	2.162272	0.38217	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.72	-0.241	0.13043	.	1.238790	0.05654	N	0.585732	T	0.04318	0.0119	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42632	-0.9440	9	.	.	.	-4.2651	4.6818	0.12738	0.0:0.3053:0.2051:0.4896	.	30	Q8NI32-2	.	L	30;6;6;30	ENSP00000387077:S30L;ENSP00000386479:S6L;ENSP00000386650:S6L;ENSP00000280115:S30L	.	S	+	2	0	LYPD6B	149770024	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.393000	0.07305	0.126000	0.18424	-0.294000	0.09567	TCG		0.453	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964	
NEB	4703	broad.mit.edu	37	2	152376262	152376262	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:152376262G>A	ENST00000172853.10	-	126	17544	c.17397C>T	c.(17395-17397)ttC>ttT	p.F5799F	NEB_ENST00000604864.1_Silent_p.F7500F|NEB_ENST00000409198.1_Silent_p.F5799F|NEB_ENST00000397345.3_Silent_p.F7500F|NEB_ENST00000427231.2_Silent_p.F7500F|NEB_ENST00000603639.1_Silent_p.F7500F			P20929	NEBU_HUMAN	nebulin	5799					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.F5799F(1)		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)		TTTCTTTATCGAAATTTTCTC	0.358																																					p.F7500F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C22500T	2						.						255.0	220.0	231.0					2																	152376262		1824	4080	5904	152084508	SO:0001819	synonymous_variant	4703	exon154			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.17397C>T	2.37:g.152376262G>A			152084508	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	9.816	1.184374	0.21870	.	.	ENSG00000183091	ENST00000434685	.	.	.	6.16	-0.464	0.12160	.	.	.	.	.	T	0.57695	0.2071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53308	-0.8457	4	.	.	.	.	10.7319	0.46102	0.6428:0.0:0.3572:0.0	.	.	.	.	L	123	.	.	S	-	2	0	NEB	152084508	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	1.138000	0.31491	-0.027000	0.13873	-0.142000	0.14014	TCG		0.358	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152417610	152417610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:152417610C>A	ENST00000172853.10	-	95	14158	c.14011G>T	c.(14011-14013)Gaa>Taa	p.E4671*	NEB_ENST00000604864.1_Nonsense_Mutation_p.E6372*|NEB_ENST00000409198.1_Nonsense_Mutation_p.E4671*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E6372*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E6372*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E6372*			P20929	NEBU_HUMAN	nebulin	4671					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.E4671*(1)		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)		TGATAATTTTCTTTATATTTT	0.343																																					p.E6372X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G19114T	2						.						109.0	97.0	101.0					2																	152417610		1812	4077	5889	152125856	SO:0001587	stop_gained	4703	exon123			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.14011G>T	2.37:g.152417610C>A	ENSP00000172853:p.Glu4671*		152125856	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	56	25.521449	0.99965	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.8354	0.96655	0.0:1.0:0.0:0.0	.	.	.	.	X	4671;6372;6372;720;1102;4671	.	ENSP00000172853:E4671X	E	-	1	0	NEB	152125856	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.322000	0.65852	2.686000	0.91538	0.555000	0.69702	GAA		0.343	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152471030	152471030	+	Silent	SNP	C	C	T	rs200043736	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:152471030C>T	ENST00000172853.10	-	73	10779	c.10632G>A	c.(10630-10632)ccG>ccA	p.P3544P	NEB_ENST00000604864.1_Silent_p.P3787P|NEB_ENST00000409198.1_Silent_p.P3544P|NEB_ENST00000397345.3_Silent_p.P3787P|NEB_ENST00000427231.2_Silent_p.P3787P|NEB_ENST00000603639.1_Silent_p.P3787P			P20929	NEBU_HUMAN	nebulin	3544					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.P3544P(1)		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)		ACATCATCTTCGGGTCATCCT	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		21205	0.001		0.001	False		,,,				2504	0.0				p.P3787P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G11361A	2						.	C	,,	0,3888		0,0,1944	197.0	187.0	190.0		11361,11361,10632	2.9	1.0	2		190	1,8271		0,1,4135	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,6079	TT,TC,CC		0.0121,0.0,0.0082	,,	3787/8526,3787/8526,3544/6670	152471030	1,12159	1944	4136	6080	152179276	SO:0001819	synonymous_variant	4703	exon77			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.10632G>A	2.37:g.152471030C>T			152179276	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.468	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-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:152534213C>T	ENST00000172853.10	-	34	3787	c.3640G>A	c.(3640-3642)Gaa>Aaa	p.E1214K	NEB_ENST00000604864.1_Missense_Mutation_p.E1214K|NEB_ENST00000409198.1_Missense_Mutation_p.E1214K|NEB_ENST00000397345.3_Missense_Mutation_p.E1214K|NEB_ENST00000427231.2_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	
NEB	4703	broad.mit.edu	37	2	152550935	152550935	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:152550935C>A	ENST00000172853.10	-	20	1945	c.1798G>T	c.(1798-1800)Gac>Tac	p.D600Y	NEB_ENST00000604864.1_Missense_Mutation_p.D600Y|NEB_ENST00000409198.1_Missense_Mutation_p.D600Y|NEB_ENST00000397345.3_Missense_Mutation_p.D600Y|NEB_ENST00000427231.2_Missense_Mutation_p.D600Y|NEB_ENST00000603639.1_Missense_Mutation_p.D600Y			P20929	NEBU_HUMAN	nebulin	600					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.D600Y(1)		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)		TTTTCATAGTCTTTCTTGTAC	0.478																																					p.D600Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1798T	2						.						222.0	206.0	211.0					2																	152550935		1928	4168	6096	152259181	SO:0001583	missense	4703	exon20			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.1798G>T	2.37:g.152550935C>A	ENSP00000172853:p.Asp600Tyr		152259181	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.203110	0.79127	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.9	5.9	0.94986	.	0.158225	0.44902	D	0.000414	T	0.69305	0.3096	M	0.64404	1.975	0.80722	D	1	D;B	0.60160	0.987;0.08	D;B	0.65323	0.934;0.05	T	0.69327	-0.5174	10	0.59425	D	0.04	.	17.1936	0.86887	0.0:1.0:0.0:0.0	.	233;600	Q86TG3;P20929	.;NEBU_HUMAN	Y	600;600;600;600;326	ENSP00000386259:D600Y;ENSP00000380505:D600Y;ENSP00000416578:D600Y;ENSP00000172853:D600Y	ENSP00000172853:D600Y	D	-	1	0	NEB	152259181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.688000	0.68227	2.797000	0.96272	0.655000	0.94253	GAC		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152563485	152563485	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:152563485C>A	ENST00000172853.10	-	13	1209	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N	NEB_ENST00000604864.1_Missense_Mutation_p.K354N|NEB_ENST00000409198.1_Missense_Mutation_p.K354N|NEB_ENST00000397345.3_Missense_Mutation_p.K354N|NEB_ENST00000427231.2_Missense_Mutation_p.K354N|NEB_ENST00000603639.1_Missense_Mutation_p.K354N			P20929	NEBU_HUMAN	nebulin	354					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.K354N(1)		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)		TTCCTTTATTCTTTTCATAGT	0.378																																					p.K354N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1062T	2						.						88.0	85.0	86.0					2																	152563485		1826	4086	5912	152271731	SO:0001583	missense	4703	exon13			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.1062G>T	2.37:g.152563485C>A	ENSP00000172853:p.Lys354Asn		152271731	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	17.53	3.412729	0.62511	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.93	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.64892	-0.6300	10	0.87932	D	0	.	9.1405	0.36901	0.0:0.7214:0.0:0.2786	.	354	P20929	NEBU_HUMAN	N	354;354;354;354;80	ENSP00000386259:K354N;ENSP00000380505:K354N;ENSP00000416578:K354N;ENSP00000172853:K354N	ENSP00000172853:K354N	K	-	3	2	NEB	152271731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.058000	0.30504	1.508000	0.48769	0.655000	0.94253	AAG		0.378	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
ARL5A	26225	broad.mit.edu	37	2	152663435	152663435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:152663435C>A	ENST00000295087.8	-	5	702	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	ARL5A_ENST00000428992.2_Nonsense_Mutation_p.E94*	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	131					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.E131*(2)		breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		GTCATGCATTCTTTAACATCT	0.373																																					p.E131X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G391T	2						.						94.0	85.0	88.0					2																	152663435		2203	4300	6503	152371681	SO:0001587	stop_gained	26225	exon5			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.391G>T	2.37:g.152663435C>A	ENSP00000295087:p.Glu131*		152371681	NM_012097	Q580I5	Nonsense_Mutation	SNP	ENST00000295087.8	37	CCDS2195.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605948	0.96626	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	.	.	.	5.6	4.66	0.58398	.	0.150635	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.98	15.954	0.79865	0.0:0.8651:0.1349:0.0	.	.	.	.	X	131;94;94	.	ENSP00000295087:E131X	E	-	1	0	ARL5A	152371681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.041000	0.70988	2.640000	0.89533	0.561000	0.74099	GAA		0.373	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254837.1		
NBAS	51594	broad.mit.edu	37	2	15359049	15359049	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:15359049G>A	ENST00000281513.5	-	48	6305	c.6280C>T	c.(6280-6282)Cct>Tct	p.P2094S	NBAS_ENST00000441750.1_Missense_Mutation_p.P1974S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2094					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCACAGAAAGGCCGCAGCCAC	0.552																																					p.P2094S												.	.	0			c.C6280T	2						.						37.0	41.0	40.0					2																	15359049		2203	4300	6503	15276500	SO:0001583	missense	51594	exon48			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6280C>T	2.37:g.15359049G>A	ENSP00000281513:p.Pro2094Ser		15276500	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930876	0.92389	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.30448	1.53;1.53	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	M	0.65498	2.005	0.80722	D	1	D;P	0.62365	0.991;0.676	P;B	0.58130	0.833;0.197	T	0.53294	-0.8459	10	0.87932	D	0	.	18.5325	0.90997	0.0:0.0:1.0:0.0	.	1974;2094	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	S	1974;2094	ENSP00000413201:P1974S;ENSP00000281513:P2094S	ENSP00000281513:P2094S	P	-	1	0	NBAS	15276500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.735000	0.91549	2.609000	0.88269	0.591000	0.81541	CCT		0.552	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
CACNB4	785	broad.mit.edu	37	2	152737389	152737389	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:152737389G>A	ENST00000539935.1	-	4	382	c.315C>T	c.(313-315)ggC>ggT	p.G105G	CACNB4_ENST00000427385.1_Silent_p.G87G|CACNB4_ENST00000534999.1_Silent_p.G71G|CACNB4_ENST00000201943.5_Silent_p.G105G|CACNB4_ENST00000397327.2_Silent_p.G58G|CACNB4_ENST00000360283.6_Silent_p.G71G|CACNB4_ENST00000475848.1_5'Flank	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	105					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G105G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTCCAGGGCGCCGCAGTAGC	0.468																																					p.G105G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	2						.						74.0	74.0	74.0					2																	152737389		1961	4140	6101	152445635	SO:0001819	synonymous_variant	785	exon4			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.315C>T	2.37:g.152737389G>A			152445635	NM_001145798	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	CCDS46426.1																																																																																				0.468	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	
FMNL2	114793	broad.mit.edu	37	2	153473704	153473704	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:153473704C>T	ENST00000288670.9	+	13	1679	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	438	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.R438W(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GGATGTCGTTCGGGTAAGTGT	0.473																																					p.R438W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1312T	2						.						108.0	107.0	108.0					2																	153473704		2001	4181	6182	153181950	SO:0001583	missense	114793	exon13			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1312C>T	2.37:g.153473704C>T	ENSP00000288670:p.Arg438Trp		153181950	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831266	0.71258	.	.	ENSG00000157827	ENST00000288670	D	0.82344	-1.6	5.74	5.74	0.90152	.	0.050869	0.85682	D	0.000000	D	0.86447	0.5935	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	P	0.53861	0.736	D	0.85677	0.1298	10	0.40728	T	0.16	.	13.9438	0.64071	0.2674:0.7326:0.0:0.0	.	438	Q96PY5-3	.	W	438	ENSP00000288670:R438W	ENSP00000288670:R438W	R	+	1	2	FMNL2	153181950	0.906000	0.30813	0.998000	0.56505	0.783000	0.44284	1.401000	0.34589	2.712000	0.92718	0.585000	0.79938	CGG		0.473	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	
KCNJ3	3760	broad.mit.edu	37	2	155711470	155711470	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:155711470A>T	ENST00000295101.2	+	3	1628	c.1151A>T	c.(1150-1152)aAt>aTt	p.N384I	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	384					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.N384I(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAAAGACATAATTCTGTGGAA	0.413																																					p.N384I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1151T	2						.						113.0	119.0	117.0					2																	155711470		2203	4300	6503	155419716	SO:0001583	missense	3760	exon3			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1151A>T	2.37:g.155711470A>T	ENSP00000295101:p.Asn384Ile		155419716	NM_002239	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430802	0.25726	.	.	ENSG00000162989	ENST00000295101	D	0.88201	-2.35	5.7	5.7	0.88788	.	0.141543	0.64402	D	0.000007	T	0.80149	0.4570	N	0.08118	0	0.80722	D	1	B	0.18741	0.03	B	0.22152	0.038	T	0.76594	-0.2902	10	0.56958	D	0.05	.	15.1574	0.72755	1.0:0.0:0.0:0.0	.	384	P48549	IRK3_HUMAN	I	384	ENSP00000295101:N384I	ENSP00000295101:N384I	N	+	2	0	KCNJ3	155419716	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.166000	0.71896	2.184000	0.69523	0.528000	0.53228	AAT		0.413	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
CCDC148	130940	broad.mit.edu	37	2	159166129	159166129	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:159166129T>C	ENST00000283233.5	-	9	1239	c.926A>G	c.(925-927)gAc>gGc	p.D309G	CCDC148_ENST00000409187.1_Missense_Mutation_p.D318G|CCDC148_ENST00000536771.1_Missense_Mutation_p.D223G	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	309								p.D309G(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGATATTGGTCACAATATTT	0.328																																					p.D309G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A926G	2						.						79.0	80.0	79.0					2																	159166129		2201	4299	6500	158874375	SO:0001583	missense	130940	exon9				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.926A>G	2.37:g.159166129T>C	ENSP00000283233:p.Asp309Gly		158874375	NM_138803	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896308	0.33442	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.33654	1.83;1.82;1.4	5.95	3.56	0.40772	.	.	.	.	.	T	0.29389	0.0732	L	0.55103	1.725	0.25921	N	0.983111	B;B;B;B;B	0.11235	0.004;0.004;0.004;0.001;0.003	B;B;B;B;B	0.13407	0.009;0.009;0.009;0.004;0.004	T	0.25467	-1.0131	9	0.18276	T	0.48	-4.0287	5.9689	0.19340	0.1478:0.0793:0.0:0.7729	.	223;157;157;318;309	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	G	309;157;318;223	ENSP00000283233:D309G;ENSP00000386674:D318G;ENSP00000443740:D223G	ENSP00000283233:D309G	D	-	2	0	CCDC148	158874375	0.950000	0.32346	0.973000	0.42090	0.995000	0.86356	2.832000	0.48152	1.037000	0.40024	0.533000	0.62120	GAC		0.328	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803	
PKP4	8502	broad.mit.edu	37	2	159488345	159488345	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:159488345A>G	ENST00000389759.3	+	8	1346	c.1234A>G	c.(1234-1236)Act>Gct	p.T412A	PKP4_ENST00000389757.3_Missense_Mutation_p.T412A	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	412					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.T412A(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						CTTGCACATTACTCCTATATA	0.517										HNSCC(62;0.18)																											p.T412A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1234G	2						.						152.0	136.0	141.0					2																	159488345		2203	4300	6503	159196591	SO:0001583	missense	8502	exon8			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.1234A>G	2.37:g.159488345A>G	ENSP00000374409:p.Thr412Ala		159196591	NM_003628	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626639	0.46840	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.73897	-0.79;-0.79	5.97	5.97	0.96955	.	0.046565	0.85682	D	0.000000	T	0.70176	0.3194	L	0.50333	1.59	0.48395	D	0.999647	B;B;B;B;P	0.35894	0.391;0.025;0.011;0.025;0.526	B;B;B;B;B	0.35550	0.13;0.022;0.01;0.022;0.205	T	0.68861	-0.5297	10	0.33141	T	0.24	-10.2394	16.4608	0.84044	1.0:0.0:0.0:0.0	.	264;368;412;412;263	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	A	263;412;412	ENSP00000374407:T412A;ENSP00000374409:T412A	ENSP00000374407:T412A	T	+	1	0	PKP4	159196591	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.710000	0.61873	2.288000	0.76882	0.533000	0.62120	ACT		0.517	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
TANC1	85461	broad.mit.edu	37	2	160086403	160086403	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:160086403G>A	ENST00000263635.6	+	27	4703	c.4466G>A	c.(4465-4467)cGa>cAa	p.R1489Q	TANC1_ENST00000454300.1_Missense_Mutation_p.R1383Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1489					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.R1489Q(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCATACATCCGAAACCTTCAA	0.557																																					p.R1489Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4466A	2						.						91.0	96.0	94.0					2																	160086403		1994	4160	6154	159794649	SO:0001583	missense	85461	exon27			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4466G>A	2.37:g.160086403G>A	ENSP00000263635:p.Arg1489Gln		159794649	NM_033394	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119640	0.77323	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69435	-0.4;-0.4	5.89	5.89	0.94794	.	0.119949	0.52532	D	0.000071	T	0.75148	0.3810	L	0.54323	1.7	0.34228	D	0.676237	D	0.76494	0.999	P	0.55011	0.766	T	0.78303	-0.2256	9	.	.	.	.	20.2495	0.98402	0.0:0.0:1.0:0.0	.	1489	Q9C0D5	TANC1_HUMAN	Q	1383;1489	ENSP00000396339:R1383Q;ENSP00000263635:R1489Q	.	R	+	2	0	TANC1	159794649	1.000000	0.71417	0.997000	0.53966	0.721000	0.41392	5.889000	0.69766	2.781000	0.95711	0.655000	0.94253	CGA		0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		
DPP4	1803	broad.mit.edu	37	2	162875264	162875264	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:162875264C>T	ENST00000360534.3	-	16	1955	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A465A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GATAATACTTCGCCTCTTTAC	0.473																																					p.A465A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1395A	2						.						128.0	116.0	120.0					2																	162875264		2203	4300	6503	162583510	SO:0001819	synonymous_variant	1803	exon16			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1395G>A	2.37:g.162875264C>T			162583510	NM_001935	Q53TN1	Silent	SNP	ENST00000360534.3	37	CCDS2216.1																																																																																				0.473	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		
KCNH7	90134	broad.mit.edu	37	2	163241206	163241206	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:163241206G>T	ENST00000332142.5	-	13	3053	c.2954C>A	c.(2953-2955)tCt>tAt	p.S985Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	985					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.S985Y(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)	ACCTTTGCAAGAGTGACTTCT	0.403																																					p.S985Y	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2954A	2						.						126.0	124.0	125.0					2																	163241206		2203	4299	6502	162949452	SO:0001583	missense	90134	exon13			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.2954C>A	2.37:g.163241206G>T	ENSP00000331727:p.Ser985Tyr		162949452	NM_033272	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796329	0.50208	.	.	ENSG00000184611	ENST00000332142	D	0.98777	-5.13	5.3	5.3	0.74995	.	0.312068	0.36703	N	0.002442	D	0.95787	0.8629	N	0.19112	0.55	0.80722	D	1	B	0.20671	0.047	B	0.19391	0.025	D	0.93813	0.7112	10	0.12103	T	0.63	.	19.3124	0.94195	0.0:0.0:1.0:0.0	.	985	Q9NS40	KCNH7_HUMAN	Y	985	ENSP00000331727:S985Y	ENSP00000331727:S985Y	S	-	2	0	KCNH7	162949452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.086000	0.64474	2.650000	0.89964	0.655000	0.94253	TCT		0.403	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
PXDN	7837	broad.mit.edu	37	2	1652246	1652246	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:1652246G>T	ENST00000252804.4	-	17	3356	c.3306C>A	c.(3304-3306)ttC>ttA	p.F1102L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1102					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.F1102L(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)		AGGGAGAGAAGAAAGCTTTGT	0.582																																					p.F1102L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3306A	2						.						37.0	46.0	43.0					2																	1652246		2088	4199	6287	1631253	SO:0001583	missense	7837	exon17			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.3306C>A	2.37:g.1652246G>T	ENSP00000252804:p.Phe1102Leu		1631253	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500253	0.64298	.	.	ENSG00000130508	ENST00000252804	T	0.70869	-0.52	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.63169	1.94	0.58432	D	0.999999	B	0.33857	0.429	P	0.47134	0.539	T	0.76724	-0.2854	10	0.42905	T	0.14	-43.5621	19.4069	0.94651	0.0:0.0:1.0:0.0	.	1102	Q92626	PXDN_HUMAN	L	1102	ENSP00000252804:F1102L	ENSP00000252804:F1102L	F	-	3	2	PXDN	1631253	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.860000	0.62961	2.588000	0.87417	0.650000	0.86243	TTC		0.582	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
KCNH7	90134	broad.mit.edu	37	2	163393438	163393438	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:163393438T>G	ENST00000332142.5	-	3	559	c.460A>C	c.(460-462)Aac>Cac	p.N154H	KCNH7_ENST00000328032.4_Missense_Mutation_p.N154H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	154					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.N154H(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)	TACTTACGGTTTACAGTTTTG	0.358																																					p.N154H	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A460C	2						.						223.0	205.0	211.0					2																	163393438		2203	4300	6503	163101684	SO:0001583	missense	90134	exon3			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.460A>C	2.37:g.163393438T>G	ENSP00000331727:p.Asn154His		163101684	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.917235	0.73098	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99571	-5.04;-6.19	5.56	5.56	0.83823	.	0.145914	0.64402	D	0.000008	D	0.98099	0.9373	N	0.19112	0.55	0.41794	D	0.989886	P;P	0.50819	0.856;0.939	B;B	0.43536	0.136;0.423	D	0.99331	1.0909	10	0.42905	T	0.14	.	15.7101	0.77620	0.0:0.0:0.0:1.0	.	154;154	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	H	154	ENSP00000331727:N154H;ENSP00000333781:N154H	ENSP00000333781:N154H	N	-	1	0	KCNH7	163101684	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.852000	0.62904	2.113000	0.64589	0.459000	0.35465	AAC		0.358	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
FIGN	55137	broad.mit.edu	37	2	164466486	164466486	+	Missense_Mutation	SNP	G	G	A	rs559490173	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:164466486G>A	ENST00000333129.3	-	3	2170	c.1856C>T	c.(1855-1857)tCg>tTg	p.S619L	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	619					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.S619L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GTCCTCAGCCGAAGTTAGTAC	0.433													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20386	0.0		0.0	False		,,,				2504	0.0				p.S619L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1856T	2						.						120.0	112.0	115.0					2																	164466486		1950	4152	6102	164174732	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.1856C>T	2.37:g.164466486G>A	ENSP00000333836:p.Ser619Leu		164174732	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458122	0.63401	.	.	ENSG00000182263	ENST00000333129	D	0.92858	-3.12	5.77	5.77	0.91146	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	L	0.39397	1.21	0.80722	D	1	P	0.35481	0.504	B	0.43123	0.409	D	0.91475	0.5200	10	0.87932	D	0	-12.3554	19.9926	0.97371	0.0:0.0:1.0:0.0	.	619	Q5HY92	FIGN_HUMAN	L	619	ENSP00000333836:S619L	ENSP00000333836:S619L	S	-	2	0	FIGN	164174732	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	7.912000	0.87465	2.729000	0.93468	0.467000	0.42956	TCG		0.433	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
GRB14	2888	broad.mit.edu	37	2	165378573	165378573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:165378573C>A	ENST00000263915.3	-	6	1271	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	GRB14_ENST00000543549.1_Nonsense_Mutation_p.E158*	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	245	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.E245*(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTTCCCTGTTCTTTCGCATGT	0.279																																					p.E245X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G733T	2						.						43.0	48.0	46.0					2																	165378573		2200	4284	6484	165086819	SO:0001587	stop_gained	2888	exon6				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.733G>T	2.37:g.165378573C>A	ENSP00000263915:p.Glu245*		165086819	NM_004490	B7Z7F9|Q7Z6I1	Nonsense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	38	7.138598	0.98088	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	.	.	.	5.78	5.78	0.91487	.	0.043395	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.3163	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	245;158;200	.	ENSP00000263915:E245X	E	-	1	0	GRB14	165086819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GAA		0.279	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
SCN3A	6328	broad.mit.edu	37	2	165953862	165953862	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:165953862T>G	ENST00000360093.3	-	23	4630	c.4139A>C	c.(4138-4140)aAt>aCt	p.N1380T	SCN3A_ENST00000409101.3_Missense_Mutation_p.N1331T|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1380T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1380					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.N1380T(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)	GTCACTCAAATTGTTAACATC	0.418																																					p.N1380T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4139C	2						.						135.0	116.0	123.0					2																	165953862		2203	4300	6503	165662108	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.4139A>C	2.37:g.165953862T>G	ENSP00000353206:p.Asn1380Thr		165662108	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	21.2	4.108673	0.77096	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96685	-4.09;-4.08;-4.01;-3.92	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97763	0.9266	M	0.70275	2.135	0.80722	D	1	P;D;D;D;P	0.71674	0.855;0.997;0.998;0.998;0.534	P;D;D;D;P	0.79108	0.857;0.992;0.991;0.991;0.525	D	0.98374	1.0555	10	0.62326	D	0.03	.	16.2988	0.82793	0.0:0.0:0.0:1.0	.	1380;1331;1331;1331;1380	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	T	1380;1380;1331;1331	ENSP00000353206:N1380T;ENSP00000283254:N1380T;ENSP00000386726:N1331T;ENSP00000403348:N1331T	ENSP00000283254:N1380T	N	-	2	0	SCN3A	165662108	1.000000	0.71417	0.997000	0.53966	0.322000	0.28314	7.997000	0.88414	2.311000	0.77944	0.533000	0.62120	AAT		0.418	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN3A	6328	broad.mit.edu	37	2	165970353	165970353	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:165970353G>T	ENST00000360093.3	-	20	4133	c.3642C>A	c.(3640-3642)ttC>ttA	p.F1214L	SCN3A_ENST00000409101.3_Missense_Mutation_p.F1165L|SCN3A_ENST00000283254.7_Missense_Mutation_p.F1214L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1214					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.F1214L(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)	GAAGGATCATGAACACAATGA	0.383																																					p.F1214L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3642A	2						.						188.0	163.0	171.0					2																	165970353		2203	4300	6503	165678599	SO:0001583	missense	6328	exon20			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.3642C>A	2.37:g.165970353G>T	ENSP00000353206:p.Phe1214Leu		165678599	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	15.82	2.946731	0.53186	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.35	5.35	0.76521	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000017	D	0.88735	0.6517	L	0.53249	1.67	0.80722	D	1	B;D;D;D;B	0.57257	0.251;0.979;0.974;0.974;0.101	B;D;D;D;B	0.71414	0.183;0.973;0.969;0.969;0.256	D	0.87440	0.2394	10	0.41790	T	0.15	.	9.7284	0.40346	0.1544:0.0:0.8456:0.0	.	1214;1165;1165;1165;1214	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	L	1214;1214;1165;1165	ENSP00000353206:F1214L;ENSP00000283254:F1214L;ENSP00000386726:F1165L;ENSP00000403348:F1165L	ENSP00000283254:F1214L	F	-	3	2	SCN3A	165678599	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.492000	0.53259	2.502000	0.84385	0.460000	0.39030	TTC		0.383	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
CSRNP3	80034	broad.mit.edu	37	2	166535444	166535444	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:166535444C>T	ENST00000342316.4	+	5	1211	c.939C>T	c.(937-939)atC>atT	p.I313I	CSRNP3_ENST00000409420.1_Silent_p.I345I|CSRNP3_ENST00000314499.7_Silent_p.I313I	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	313					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I313I(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AATATTCAATCGCAGACAGTT	0.522																																					p.I313I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	2						.						63.0	64.0	64.0					2																	166535444		2203	4300	6503	166243690	SO:0001819	synonymous_variant	80034	exon7			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.939C>T	2.37:g.166535444C>T			166243690	NM_001172173	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	ENST00000342316.4	37	CCDS2225.1																																																																																				0.522	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
SCN1A	6323	broad.mit.edu	37	2	166911231	166911231	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:166911231A>C	ENST00000303395.4	-	4	518	c.519T>G	c.(517-519)atT>atG	p.I173M	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.I173M|SCN1A_ENST00000375405.3_Missense_Mutation_p.I173M|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I173M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	173					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.I173M(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)	CCCTTGCAATAATTTTTATAA	0.328																																					p.I173M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T519G	2						.						51.0	55.0	53.0					2																	166911231		2203	4299	6502	166619477	SO:0001583	missense	6323	exon4			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.519T>G	2.37:g.166911231A>C	ENSP00000303540:p.Ile173Met		166619477	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170609	0.57584	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.24	4.06	0.47325	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.98235	0.9416	L	0.50993	1.605	0.44359	D	0.997253	D;P;D	0.62365	0.966;0.877;0.991	P;P;D	0.75484	0.833;0.754;0.986	D	0.97805	1.0247	10	0.87932	D	0	.	6.4411	0.21851	0.7444:0.0:0.1275:0.1281	.	173;173;173	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	173	ENSP00000407030:I173M;ENSP00000303540:I173M;ENSP00000364554:I173M;ENSP00000386312:I173M	ENSP00000303540:I173M	I	-	3	3	SCN1A	166619477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.740000	0.38228	2.099000	0.63709	0.459000	0.35465	ATT		0.328	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	167136899	167136899	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:167136899C>T	ENST00000409435.1	-	13	2310	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E760K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E772K|SCN9A_ENST00000303354.6_Missense_Mutation_p.E772K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	771					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.E760K(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)	TTTTTGAATTCCTCAGTCATT	0.308																																					p.E760K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2278A	2						.						44.0	44.0	44.0					2																	167136899		1841	4085	5926	166845145	SO:0001583	missense	6335	exon14			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.2311G>A	2.37:g.167136899C>T	ENSP00000386330:p.Glu771Lys		166845145	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222534	0.22457	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.9	3.96	0.45880	.	0.261983	0.34046	N	0.004316	D	0.94604	0.8261	M	0.78456	2.415	0.23926	N	0.996446	B	0.31077	0.307	B	0.24269	0.052	D	0.88614	0.3158	10	0.62326	D	0.03	.	4.3526	0.11163	0.1183:0.5411:0.2134:0.1272	.	760	E7EUN6	.	K	760;772;772;771	ENSP00000386306:E760K;ENSP00000364536:E772K;ENSP00000304748:E772K;ENSP00000386330:E771K	ENSP00000304748:E772K	E	-	1	0	SCN9A	166845145	0.000000	0.05858	0.967000	0.41034	0.056000	0.15407	-0.030000	0.12308	2.788000	0.95919	0.650000	0.86243	GAA		0.308	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN7A	6332	broad.mit.edu	37	2	167285765	167285765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:167285765G>T	ENST00000409855.1	-	16	2738	c.2612C>A	c.(2611-2613)tCa>tAa	p.S871*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	871					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.S871*(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)	GCATTCAGATGAGCTAGATTG	0.333																																					p.S871X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2612A	2						.						50.0	44.0	46.0					2																	167285765		1786	4013	5799	166994011	SO:0001587	stop_gained	6332	exon16			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.2612C>A	2.37:g.167285765G>T	ENSP00000386796:p.Ser871*		166994011	NM_002976		Nonsense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	41	9.007139	0.99033	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	.	.	.	5.06	5.06	0.68205	.	0.000000	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2979	0.82784	0.0:0.0:1.0:0.0	.	.	.	.	X	871	.	ENSP00000259060:S871X	S	-	2	0	SCN7A	166994011	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.822000	0.75277	2.791000	0.96007	0.591000	0.81541	TCA		0.333	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
SCN7A	6332	broad.mit.edu	37	2	167289249	167289249	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:167289249A>C	ENST00000409855.1	-	15	2297	c.2171T>G	c.(2170-2172)tTt>tGt	p.F724C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	724					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.F724C(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)	CAATGCCAGAAACAGGTAAAG	0.323																																					p.F724C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2171G	2						.						23.0	21.0	21.0					2																	167289249		1847	4088	5935	166997495	SO:0001583	missense	6332	exon15			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.2171T>G	2.37:g.167289249A>C	ENSP00000386796:p.Phe724Cys		166997495	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.544241	0.65198	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98762	-5.12;-5.12	6.17	5.01	0.66863	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.99208	0.9725	M	0.93106	3.38	0.46260	D	0.998957	D	0.89917	1.0	D	0.91635	0.999	D	0.99232	1.0882	10	0.87932	D	0	.	10.9598	0.47379	0.9249:0.0:0.0751:0.0	.	724	Q01118	SCN7A_HUMAN	C	724	ENSP00000386796:F724C;ENSP00000413699:F724C	ENSP00000259060:F724C	F	-	2	0	SCN7A	166997495	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.680000	0.68168	2.371000	0.80710	0.533000	0.62120	TTT		0.323	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-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:168074699C>T	ENST00000409728.1	+	6	935	c.846C>T	c.(844-846)tgC>tgT	p.C282C	XIRP2_ENST00000295237.9_Silent_p.C249C|XIRP2_ENST00000409756.2_Silent_p.C249C|XIRP2_ENST00000409043.1_Silent_p.C249C|XIRP2_ENST00000409273.1_Silent_p.C27C|XIRP2_ENST00000409195.1_Silent_p.C249C|XIRP2_ENST00000409605.1_Silent_p.C27C|XIRP2_ENST00000420519.1_Silent_p.C282C	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	168100851	168100851	+	Silent	SNP	C	C	T	rs192182483	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:168100851C>T	ENST00000409195.1	+	9	3038	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	XIRP2_ENST00000295237.9_Silent_p.F983F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F761F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	808					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.F983F(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						AATCTCTCTTCGAGACAACAC	0.353													C|||	6	0.00119808	0.0	0.0	5008	,	,		18426	0.006		0.0	False		,,,				2504	0.0				p.F761F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2283T	2						.						59.0	55.0	56.0					2																	168100851		1857	4103	5960	167809097	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.2949C>T	2.37:g.168100851C>T			167809097	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																																																																																				0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168106530	168106530	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:168106530C>T	ENST00000409195.1	+	9	8717	c.8628C>T	c.(8626-8628)acC>acT	p.T2876T	XIRP2_ENST00000295237.9_Silent_p.T2876T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T2654T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2701					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.T2876T(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						AAATACAGACCGCTGAAAGTA	0.388																																					p.T2654T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7962T	2						.						90.0	87.0	88.0					2																	168106530		1849	4088	5937	167814776	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.8628C>T	2.37:g.168106530C>T			167814776	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	168106680	168106680	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:168106680C>T	ENST00000409195.1	+	9	8867	c.8778C>T	c.(8776-8778)ttC>ttT	p.F2926F	XIRP2_ENST00000295237.9_Silent_p.F2926F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F2704F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2751					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.F2926F(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						ACAAATCTTTCTTTTCCTCTG	0.378																																					p.F2704F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8112T	2						.						81.0	78.0	79.0					2																	168106680		1824	4078	5902	167814926	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.8778C>T	2.37:g.168106680C>T			167814926	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																																																																																				0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168107875	168107875	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:168107875T>G	ENST00000409195.1	+	9	10062	c.9973T>G	c.(9973-9975)Ttc>Gtc	p.F3325V	XIRP2_ENST00000295237.9_Missense_Mutation_p.F3325V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F3103V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3150					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.F3325V(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						GGCTGAAAATTTCGTGAATGA	0.448																																					p.F3103V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9307G	2						.						94.0	93.0	93.0					2																	168107875		1920	4138	6058	167816121	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.9973T>G	2.37:g.168107875T>G	ENSP00000386840:p.Phe3325Val		167816121	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	3.887	-0.024746	0.07589	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02323	4.34;4.34;4.34	5.66	0.189	0.15119	.	0.400683	0.29073	N	0.013232	T	0.02571	0.0078	L	0.48362	1.52	0.09310	N	1	B;B;B	0.20887	0.029;0.049;0.005	B;B;B	0.17433	0.008;0.018;0.004	T	0.43360	-0.9396	10	0.27082	T	0.32	-4.2843	5.177	0.15141	0.0:0.2888:0.2702:0.441	.	3150;3150;3103	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	3325;3325;3103;739	ENSP00000386840:F3325V;ENSP00000295237:F3325V;ENSP00000387255:F3103V	ENSP00000295237:F3325V	F	+	1	0	XIRP2	167816121	0.007000	0.16637	0.001000	0.08648	0.366000	0.29705	-0.211000	0.09332	0.154000	0.19237	0.477000	0.44152	TTC		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168115564	168115564	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:168115564C>A	ENST00000409728.1	+	11	2696	c.2607C>A	c.(2605-2607)ttC>ttA	p.F869L	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.F836L|XIRP2_ENST00000409043.1_Missense_Mutation_p.F836L|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.F614L|XIRP2_ENST00000420519.1_Missense_Mutation_p.F869L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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.F869L(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						TACACTTTTTCTTTTCTAACA	0.318																																					p.F869L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2607A	2						.						26.0	26.0	26.0					2																	168115564		1810	4074	5884	167823810	SO:0001583	missense	129446	exon11			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.2607C>A	2.37:g.168115564C>A	ENSP00000386619:p.Phe869Leu		167823810	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	7.584	0.669425	0.14776	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.74842	-0.85;-0.88;-0.85;-0.88;-0.87	5.45	3.4	0.38934	.	.	.	.	.	T	0.54175	0.1842	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.45687	-0.9244	8	0.21540	T	0.41	.	3.0018	0.06016	0.0:0.4686:0.2356:0.2958	.	836;869	A4UGR9-4;A4UGR9-6	.;.	L	836;869;836;869;614	ENSP00000386454:F836L;ENSP00000386619:F869L;ENSP00000386724:F836L;ENSP00000415541:F869L;ENSP00000386981:F614L	ENSP00000386454:F836L	F	+	3	2	XIRP2	167823810	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	0.790000	0.26900	1.315000	0.45114	0.561000	0.74099	TTC		0.318	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
SPC25	57405	broad.mit.edu	37	2	169733808	169733808	+	Silent	SNP	A	A	G	rs375475089		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:169733808A>G	ENST00000282074.2	-	4	427	c.286T>C	c.(286-288)Ttg>Ctg	p.L96L	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	96	Interaction with the N-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.L96L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						AGTACTTCCAATTCCTGCTTT	0.333																																					p.L96L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T286C	2						.						202.0	188.0	193.0					2																	169733808		2203	4300	6503	169442054	SO:0001819	synonymous_variant	57405	exon4			AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.286T>C	2.37:g.169733808A>G			169442054	NM_020675	A8K4X8|D3DPC0	Silent	SNP	ENST00000282074.2	37	CCDS2229.1																																																																																				0.333	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675	
LRP2	4036	broad.mit.edu	37	2	170025080	170025080	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:170025080G>A	ENST00000263816.3	-	61	11889	c.11604C>T	c.(11602-11604)ggC>ggT	p.G3868G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3868	LDL-receptor class A 34. {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.G3868G(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)"""	CTGAACCATCGCCACAGTCAT	0.453																																					p.G3868G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11604T	2						.						155.0	133.0	141.0					2																	170025080		2203	4300	6503	169733326	SO:0001819	synonymous_variant	4036	exon61				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.11604C>T	2.37:g.170025080G>A			169733326	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.148	1.015489	0.19355	.	.	ENSG00000081479	ENST00000536293	.	.	.	5.82	-2.26	0.06867	.	.	.	.	.	T	0.39118	0.1066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34453	-0.9828	5	0.30078	T	0.28	.	1.2616	0.02002	0.388:0.0907:0.2618:0.2595	.	.	.	.	V	533	.	ENSP00000438157:A533V	A	-	2	0	LRP2	169733326	0.030000	0.19436	0.996000	0.52242	0.817000	0.46193	-0.715000	0.04997	-0.075000	0.12798	-0.224000	0.12420	GCG		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170048428	170048428	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:170048428G>A	ENST00000263816.3	-	48	9231	c.8946C>T	c.(8944-8946)taC>taT	p.Y2982Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2982	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.			Y -> H (in Ref. 3; AAB02882). {ECO:0000305}.	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.Y2982Y(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)"""	GATTCTCATCGTAGCCGTCAG	0.473																																					p.Y2982Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8946T	2						.						99.0	92.0	94.0					2																	170048428		2203	4300	6503	169756674	SO:0001819	synonymous_variant	4036	exon48				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.8946C>T	2.37:g.170048428G>A			169756674	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170127524	170127524	+	Missense_Mutation	SNP	G	G	A	rs201860953		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:170127524G>A	ENST00000263816.3	-	16	2495	c.2210C>T	c.(2209-2211)tCg>tTg	p.S737L	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	737					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.S737L(2)		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)"""	AGGATTCCCCGAAACTGGAAC	0.413																																					p.S737L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2210T	2						.	G	LEU/SER	0,4406		0,0,2203	122.0	106.0	111.0		2210	4.9	0.2	2		111	6,8594	5.0+/-18.6	0,6,4294	yes	missense	LRP2	NM_004525.2	145	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	737/4656	170127524	6,13000	2203	4300	6503	169835770	SO:0001583	missense	4036	exon16				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.2210C>T	2.37:g.170127524G>A	ENSP00000263816:p.Ser737Leu		169835770	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397079	0.42512	0.0	6.98E-4	ENSG00000081479	ENST00000263816	D	0.90788	-2.73	5.77	4.9	0.64082	Six-bladed beta-propeller, TolB-like (1);	0.101407	0.64402	D	0.000003	T	0.80363	0.4609	N	0.20685	0.6	0.80722	D	1	B	0.33120	0.398	B	0.22152	0.038	T	0.78288	-0.2262	10	0.07813	T	0.8	.	15.2561	0.73585	0.0675:0.0:0.9325:0.0	.	737	P98164	LRP2_HUMAN	L	737	ENSP00000263816:S737L	ENSP00000263816:S737L	S	-	2	0	LRP2	169835770	1.000000	0.71417	0.229000	0.23960	0.126000	0.20510	7.917000	0.87498	1.581000	0.49865	0.655000	0.94253	TCG		0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
KLHL23	151230	broad.mit.edu	37	2	170605954	170605954	+	Silent	SNP	G	G	A	rs368554619		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:170605954G>A	ENST00000392647.2	+	4	1633	c.1389G>A	c.(1387-1389)ccG>ccA	p.P463P	KLHL23_ENST00000272797.4_Silent_p.P463P|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	463								p.P463P(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GCTCAGTTCCGTTTGAAAATA	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		19660	0.001		0.0	False		,,,				2504	0.0				p.P463P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1389A	2						.	G	,	2,4404	4.2+/-10.8	0,2,2201	52.0	51.0	51.0		1389,1389	-7.2	0.7	2		51	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KLHL23,PHOSPHO2-KLHL23	NM_001199290.1,NM_144711.5	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	463/559,463/559	170605954	2,13004	2203	4300	6503	170314200	SO:0001819	synonymous_variant	151230	exon6			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.1389G>A	2.37:g.170605954G>A			170314200	NM_001199290	Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	CCDS2236.1																																																																																				0.348	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711	
GAD1	2571	broad.mit.edu	37	2	171686061	171686061	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:171686061G>T	ENST00000358196.3	+	4	772	c.222G>T	c.(220-222)aaG>aaT	p.K74N	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.K74N|GAD1_ENST00000375272.1_Missense_Mutation_p.K74N	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	74					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.K74N(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AATCCTCCAAGAACCTGCTTT	0.547																																					p.K74N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G222T	2						.						79.0	86.0	84.0					2																	171686061		2203	4300	6503	171394307	SO:0001583	missense	2571	exon4				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.222G>T	2.37:g.171686061G>T	ENSP00000350928:p.Lys74Asn		171394307	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099542	0.56183	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T	0.80994	-1.44;2.23;0.37;0.37;-1.25;-1.25	5.37	4.49	0.54785	.	0.147219	0.46758	D	0.000279	T	0.73110	0.3545	L	0.50333	1.59	0.54753	D	0.999982	B;B	0.32467	0.078;0.372	B;B	0.29077	0.091;0.098	T	0.70963	-0.4729	10	0.42905	T	0.14	-7.0344	10.238	0.43294	0.1516:0.0:0.8484:0.0	.	74;74	Q99259;Q99259-3	DCE1_HUMAN;.	N	74	ENSP00000402366:K74N;ENSP00000350928:K74N;ENSP00000364421:K74N;ENSP00000341167:K74N;ENSP00000405917:K74N;ENSP00000394255:K74N	ENSP00000341167:K74N	K	+	3	2	GAD1	171394307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.592000	0.53993	1.244000	0.43870	0.542000	0.68232	AAG		0.547	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		
CDCA7	83879	broad.mit.edu	37	2	174224139	174224139	+	Intron	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:174224139G>A	ENST00000347703.3	+	2	291				CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.E58K|CDCA7_ENST00000306721.3_Missense_Mutation_p.E102K	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7						apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E102K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGTCACTAACGAACTGGCCGG	0.423																																					p.E102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	2						.						101.0	101.0	101.0					2																	174224139		2203	4300	6503	173932385	SO:0001627	intron_variant	83879	exon3			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.147+574G>A	2.37:g.174224139G>A			173932385	NM_031942	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078203	0.76528	.	.	ENSG00000144354	ENST00000306721;ENST00000410101	T;T	0.53857	0.6;0.73	6.06	5.19	0.71726	.	0.064355	0.64402	N	0.000012	T	0.65091	0.2658	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.59825	0.735;0.864	T	0.63980	-0.6514	10	0.30854	T	0.27	-11.606	13.3714	0.60715	0.0732:0.0:0.9268:0.0	.	58;102	B4DV66;Q9BWT1-2	.;.	K	102;58	ENSP00000306968:E102K;ENSP00000386656:E58K	ENSP00000306968:E102K	E	+	1	0	CDCA7	173932385	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	2.376000	0.44292	1.575000	0.49775	0.650000	0.86243	GAA		0.423	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942	
RAD51AP2	729475	broad.mit.edu	37	2	17698250	17698250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:17698250C>T	ENST00000399080.2	-	1	1456	c.1433G>A	c.(1432-1434)tGg>tAg	p.W478*		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	478								p.W478*(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)					ACCATTTAGCCAAACAGTCGT	0.328																																					p.W478X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1433A	2						.						79.0	72.0	74.0					2																	17698250		1818	4073	5891	17561731	SO:0001587	stop_gained	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.1433G>A	2.37:g.17698250C>T	ENSP00000382030:p.Trp478*		17561731	NM_001099218		Nonsense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687225	0.68157	.	.	ENSG00000214842	ENST00000399080	.	.	.	4.95	-0.637	0.11504	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.4898	4.2065	0.10491	0.3982:0.3273:0.2037:0.0708	.	.	.	.	X	478	.	ENSP00000382030:W478X	W	-	2	0	RAD51AP2	17561731	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.086000	0.11233	0.037000	0.15575	-0.300000	0.09419	TGG		0.328	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
CIR1	9541	broad.mit.edu	37	2	175243671	175243671	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:175243671G>A	ENST00000342016.3	-	7	556	c.464C>T	c.(463-465)tCg>tTg	p.S155L	CIR1_ENST00000362053.5_Missense_Mutation_p.S155L	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	155					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.S155L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						AGTGGGAACCGAACTTGCATT	0.418																																					p.S155L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	2						.						166.0	142.0	150.0					2																	175243671		2203	4300	6503	174951917	SO:0001583	missense	9541	exon7			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.464C>T	2.37:g.175243671G>A	ENSP00000339723:p.Ser155Leu		174951917	NM_004882	A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686811	0.96784	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.33	5.33	0.75918	.	0.070422	0.64402	D	0.000018	T	0.76111	0.3942	L	0.61387	1.9	0.52501	D	0.999959	D	0.89917	1.0	P	0.62298	0.9	T	0.76971	-0.2761	9	0.56958	D	0.05	.	19.3994	0.94621	0.0:0.0:1.0:0.0	.	155	Q86X95	CIR1_HUMAN	L	155	.	ENSP00000339723:S155L	S	-	2	0	CIR1	174951917	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.519000	0.98025	2.654000	0.90174	0.650000	0.86243	TCG		0.418	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882	
GEN1	348654	broad.mit.edu	37	2	17942671	17942671	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:17942671T>A	ENST00000381254.2	+	3	384	c.170T>A	c.(169-171)tTt>tAt	p.F57Y	GEN1_ENST00000317402.7_Missense_Mutation_p.F57Y|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	57	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F57Y(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGAACTTATTTTTTCGTATC	0.303								Homologous recombination																													p.F57Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T170A	2						.						37.0	39.0	38.0					2																	17942671		2202	4300	6502	17806152	SO:0001583	missense	348654	exon3			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.170T>A	2.37:g.17942671T>A	ENSP00000370653:p.Phe57Tyr		17806152	NM_001130009	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341340	0.81911	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000524465;ENST00000532257	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.35	5.35	0.76521	XPG N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.80944	0.4721	M	0.82056	2.57	0.58432	D	0.999994	P	0.50617	0.937	P	0.62184	0.899	T	0.82043	-0.0653	10	0.46703	T	0.11	-27.6001	15.4969	0.75662	0.0:0.0:0.0:1.0	.	57	Q17RS7	GEN_HUMAN	Y	57	ENSP00000318977:F57Y;ENSP00000370653:F57Y;ENSP00000435143:F57Y;ENSP00000433180:F57Y	ENSP00000318977:F57Y	F	+	2	0	GEN1	17806152	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.244000	0.78228	2.243000	0.73865	0.533000	0.62120	TTT		0.303	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
GEN1	348654	broad.mit.edu	37	2	17962427	17962427	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:17962427G>A	ENST00000381254.2	+	14	2162	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	GEN1_ENST00000317402.7_Missense_Mutation_p.D650N|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	650					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D650N(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTGGATGAGGATTCTGATGG	0.383								Homologous recombination																													p.D650N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1948A	2						.						74.0	71.0	72.0					2																	17962427		2203	4300	6503	17825908	SO:0001583	missense	348654	exon14			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1948G>A	2.37:g.17962427G>A	ENSP00000370653:p.Asp650Asn		17825908	NM_001130009	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	7.439	0.640344	0.14386	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.29655	1.56;1.56	5.14	-1.16	0.09678	.	0.615400	0.14580	N	0.310915	T	0.29256	0.0728	M	0.67953	2.075	0.09310	N	1	B	0.21606	0.058	B	0.14578	0.011	T	0.26121	-1.0112	10	0.66056	D	0.02	-3.7881	10.1873	0.43006	0.5064:0.0:0.4936:0.0	.	650	Q17RS7	GEN_HUMAN	N	650;650;287	ENSP00000318977:D650N;ENSP00000370653:D650N	ENSP00000318977:D650N	D	+	1	0	GEN1	17825908	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.176000	0.16782	-0.466000	0.06943	0.655000	0.94253	GAT		0.383	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
MSGN1	343930	broad.mit.edu	37	2	17998106	17998106	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:17998106C>T	ENST00000281047.3	+	1	344	c.321C>T	c.(319-321)ggC>ggT	p.G107G		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	107					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.G107G(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACCTTCAGGGCGGTGGTGGCC	0.627																																					p.G107G	Melanoma(127;325 1712 14802 40657 49130)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	2						.						30.0	37.0	35.0					2																	17998106		2063	4192	6255	17861587	SO:0001819	synonymous_variant	343930	exon1				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.321C>T	2.37:g.17998106C>T			17861587	NM_001105569		Silent	SNP	ENST00000281047.3	37	CCDS42657.1																																																																																				0.627	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850	
HOXD1	3231	broad.mit.edu	37	2	177054656	177054656	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:177054656G>A	ENST00000331462.4	+	2	996	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000417086.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	258					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R258Q(1)		kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		ACTCGAGCCCGGCGCATCGAG	0.502																																					p.R258Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G773A	2						.						138.0	154.0	148.0					2																	177054656		2203	4300	6503	176762902	SO:0001583	missense	3231	exon2				CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.773G>A	2.37:g.177054656G>A	ENSP00000328598:p.Arg258Gln		176762902	NM_024501	B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.673803	0.96764	.	.	ENSG00000128645	ENST00000331462	D	0.95756	-3.8	5.45	5.45	0.79879	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.40469	N	0.001086	D	0.97607	0.9216	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98225	1.0480	10	0.87932	D	0	.	18.903	0.92451	0.0:0.0:1.0:0.0	.	258;258	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	Q	258	ENSP00000328598:R258Q	ENSP00000328598:R258Q	R	+	2	0	HOXD1	176762902	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.841000	0.99482	2.550000	0.86006	0.655000	0.94253	CGG		0.502	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2		
RBM45	129831	broad.mit.edu	37	2	178981057	178981057	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:178981057C>A	ENST00000286070.5	+	2	461	c.369C>A	c.(367-369)atC>atA	p.I123I		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	123	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I123I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TTACAAGAATCTTTGTTATGA	0.358																																					p.I123I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369A	2						.						139.0	140.0	140.0					2																	178981057		2203	4300	6503	178689303	SO:0001819	synonymous_variant	129831	exon2			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.369C>A	2.37:g.178981057C>A			178689303	NM_152945	Q6NYL0|Q8NFC9	Silent	SNP	ENST00000286070.5	37	CCDS33335.1																																																																																				0.358	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
OSBPL6	114880	broad.mit.edu	37	2	179213966	179213966	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179213966A>G	ENST00000190611.4	+	12	1379	c.1003A>G	c.(1003-1005)Acc>Gcc	p.T335A	OSBPL6_ENST00000357080.4_Missense_Mutation_p.T304A|OSBPL6_ENST00000409045.3_Missense_Mutation_p.T304A|OSBPL6_ENST00000409631.1_Missense_Mutation_p.T335A|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T360A|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T339A|OSBPL6_ENST00000359685.3_Missense_Mutation_p.T335A	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	335					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.T335A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTCAGTGCTACCATGTCACC	0.453																																					p.T335A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1003G	2						.						244.0	231.0	236.0					2																	179213966		2203	4300	6503	178922212	SO:0001583	missense	114880	exon12			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1003A>G	2.37:g.179213966A>G	ENSP00000190611:p.Thr335Ala		178922212	NM_032523	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.709870	0.30322	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000361154;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.12672	2.78;2.75;2.66;2.77;2.82;2.75;2.78	5.5	5.5	0.81552	.	0.046382	0.85682	D	0.000000	T	0.09024	0.0223	N	0.14661	0.345	0.43874	D	0.996485	B;B;B;B;B;B	0.31209	0.002;0.313;0.033;0.197;0.083;0.225	B;B;B;B;B;B	0.35607	0.008;0.206;0.051;0.206;0.05;0.151	T	0.38286	-0.9668	10	0.15952	T	0.53	-13.6323	10.7942	0.46451	0.8586:0.0:0.0:0.1414	.	304;339;335;360;335;304	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	A	360;335;120;304;304;335;335;339	ENSP00000376293:T360A;ENSP00000352713:T335A;ENSP00000349591:T304A;ENSP00000387248:T304A;ENSP00000190611:T335A;ENSP00000386885:T335A;ENSP00000318723:T339A	ENSP00000190611:T335A	T	+	1	0	OSBPL6	178922212	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.501000	0.60393	2.098000	0.63641	0.533000	0.62120	ACC		0.453	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
PRKRA	8575	broad.mit.edu	37	2	179309179	179309179	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179309179C>A	ENST00000325748.4	-	4	566	c.366G>T	c.(364-366)aaG>aaT	p.K122N	PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000487082.1_Missense_Mutation_p.K97N|PRKRA_ENST00000438687.3_Missense_Mutation_p.K9N|PRKRA_ENST00000432031.2_Missense_Mutation_p.K111N	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	122	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K122N(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TAAGCTGGTTCTTTGGTTGCT	0.353																																					p.K111N	Melanoma(200;68 3001 23825 48764)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G333T	2						.						99.0	102.0	101.0					2																	179309179		2203	4300	6503	179017425	SO:0001583	missense	8575	exon3			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.366G>T	2.37:g.179309179C>A	ENSP00000318176:p.Lys122Asn		179017425	NM_001139517	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010122	0.54361	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	T;T;T;T	0.73897	-0.79;-0.69;-0.78;-0.78	6.07	6.07	0.98685	.	0.446573	0.24623	N	0.036951	T	0.69106	0.3074	L	0.42744	1.35	0.39895	D	0.973828	B;B	0.13594	0.008;0.002	B;B	0.11329	0.002;0.006	T	0.62539	-0.6833	10	0.30078	T	0.28	.	17.5607	0.87906	0.0:1.0:0.0:0.0	.	122;111	O75569;O75569-2	PRKRA_HUMAN;.	N	122;9;97;111	ENSP00000318176:K122N;ENSP00000398980:K9N;ENSP00000430604:K97N;ENSP00000393883:K111N	ENSP00000318176:K122N	K	-	3	2	PRKRA	179017425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.458000	0.45014	2.884000	0.98904	0.655000	0.94253	AAG		0.353	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
TTN	7273	broad.mit.edu	37	2	179393144	179393144	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179393144G>T	ENST00000591111.1	-	311	102535	c.102311C>A	c.(102310-102312)tCt>tAt	p.S34104Y	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35745Y|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S33177Y|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26680Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26805Y|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26872Y|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34104	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S33175Y(1)|p.S26680Y(1)|p.S26872Y(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)			GACATTTGAAGAAATAGAAAT	0.333																																					p.L26680I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C80038A	2						.						67.0	61.0	63.0					2																	179393144		1820	4090	5910	179101390	SO:0001583	missense	7273	exon189			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.102311C>A	2.37:g.179393144G>T	ENSP00000465570:p.Ser34104Tyr		179101390	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	13.45	2.241921	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.25	5.25	0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72558	0.3475	M	0.84773	2.715	0.36028	D	0.83921	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	D;D;D;D;P	0.66979	0.948;0.948;0.948;0.948;0.896	T	0.81424	-0.0939	9	0.87932	D	0	.	19.2034	0.93720	0.0:0.0:1.0:0.0	.	26680;26805;26872;34104;33177	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	Y	33177;26680;26872;26805;26677	ENSP00000343764:S33177Y;ENSP00000434586:S26680Y;ENSP00000340554:S26872Y;ENSP00000352154:S26805Y	ENSP00000340554:S26872Y	S	-	2	0	TTN	179101390	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	6.470000	0.73558	2.603000	0.88011	0.555000	0.69702	TCT		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179398382	179398382	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179398382G>A	ENST00000591111.1	-	308	98261	c.98037C>T	c.(98035-98037)atC>atT	p.I32679I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Silent_p.I34320I|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Silent_p.I31752I|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.I25255I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I25380I|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.I25447I|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32679	Ig-like 144.				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.I25255I(1)|p.I25447I(1)|p.I31750I(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)			TGACACTGTTGATTGTTAATT	0.398																																					p.S25255L												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C75764T	2						.						158.0	142.0	147.0					2																	179398382		1962	4174	6136	179106628	SO:0001819	synonymous_variant	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.98037C>T	2.37:g.179398382G>A			179106628	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																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179401154	179401154	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179401154A>C	ENST00000591111.1	-	307	95621	c.95397T>G	c.(95395-95397)atT>atG	p.I31799M	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I33440M|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I30872M|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I24375M|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I24500M|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I24567M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31799	Fibronectin type-III 131. {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.I24375M(1)|p.I24567M(1)|p.I30870M(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)			TTGTCACAGAAATCCATTTAT	0.398																																					p.F24375C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T73124G	2						.						77.0	75.0	75.0					2																	179401154		1872	4115	5987	179109400	SO:0001583	missense	7273	exon185			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.95397T>G	2.37:g.179401154A>C	ENSP00000465570:p.Ile31799Met		179109400	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	14.12	2.439273	0.43326	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.76	4.61	0.57282	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35682	0.0940	N	0.11892	0.195	0.36744	D	0.88236	B;B;B;B	0.31153	0.31;0.31;0.31;0.31	B;B;B;B	0.31686	0.084;0.084;0.084;0.134	T	0.44528	-0.9322	9	0.87932	D	0	.	11.512	0.50498	0.9302:0.0:0.0698:0.0	.	24375;24500;24567;31799	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	30872;24375;24567;24500;24372	ENSP00000343764:I30872M;ENSP00000434586:I24375M;ENSP00000340554:I24567M;ENSP00000352154:I24500M	ENSP00000340554:I24567M	I	-	3	3	TTN	179109400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.170000	0.58229	1.011000	0.39340	0.460000	0.39030	ATT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179403402	179403402	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179403402G>A	ENST00000591111.1	-	304	94455	c.94231C>T	c.(94231-94233)Cgt>Tgt	p.R31411C	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33052C|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30484C|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23987C|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24112C|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24179C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31411	Fibronectin type-III 129. {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.R23987C(1)|p.R30482C(1)|p.R24179C(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)			TCCTTAATACGTTCCTTATTG	0.443																																					p.N23986N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C71958T	2						.						258.0	252.0	254.0					2																	179403402		1938	4131	6069	179111648	SO:0001583	missense	7273	exon182			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.94231C>T	2.37:g.179403402G>A	ENSP00000465570:p.Arg31411Cys		179111648	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	15.71	2.915357	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.87	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72771	0.3502	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.966;0.966;0.966;0.966	T	0.74481	-0.3651	9	0.87932	D	0	.	16.165	0.81747	0.0:0.0:0.8661:0.1338	.	23987;24112;24179;31411	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	30484;23987;24179;24112;23984	ENSP00000343764:R30484C;ENSP00000434586:R23987C;ENSP00000340554:R24179C;ENSP00000352154:R24112C	ENSP00000340554:R24179C	R	-	1	0	TTN	179111648	1.000000	0.71417	0.985000	0.45067	0.874000	0.50279	5.429000	0.66495	2.941000	0.99782	0.655000	0.94253	CGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179429600	179429600	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179429600C>A	ENST00000591111.1	-	276	76560	c.76336G>T	c.(76336-76338)Gat>Tat	p.D25446Y	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D27087Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24519Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D18022Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18147Y|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18214Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25446	Fibronectin type-III 85. {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.D18022Y(1)|p.D24517Y(1)|p.D18214Y(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)			AGCATCTGATCTTTTGAGATT	0.403																																					p.K18021N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G54063T	2						.						73.0	69.0	70.0					2																	179429600		1877	4113	5990	179137846	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.76336G>T	2.37:g.179429600C>A	ENSP00000465570:p.Asp25446Tyr		179137846	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	11.68	1.710651	0.30322	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77738	0.4175	M	0.83012	2.62	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	T	0.80193	-0.1484	9	0.87932	D	0	.	16.562	0.84569	0.131:0.869:0.0:0.0	.	18022;18147;18214;25446	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	24519;18022;18214;18147;18020	ENSP00000343764:D24519Y;ENSP00000434586:D18022Y;ENSP00000340554:D18214Y;ENSP00000352154:D18147Y	ENSP00000340554:D18214Y	D	-	1	0	TTN	179137846	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	6.081000	0.71309	2.805000	0.96524	0.650000	0.86243	GAT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179454260	179454260	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179454260T>C	ENST00000591111.1	-	254	57493	c.57269A>G	c.(57268-57270)gAc>gGc	p.D19090G	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D20731G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18163G|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D11666G|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D11791G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D11858G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19090	Fibronectin type-III 38. {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.D11666G(1)|p.D11858G(1)|p.D18161G(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)			AACACATCTGTCAACCATGTA	0.413																																					p.T11666A												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A34996G	2						.						84.0	84.0	84.0					2																	179454260		1889	4125	6014	179162506	SO:0001583	missense	7273	exon132			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.57269A>G	2.37:g.179454260T>C	ENSP00000465570:p.Asp19090Gly		179162506	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	12.50	1.957541	0.34565	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68054	0.2959	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	D;D;D;D	0.69824	0.938;0.938;0.938;0.966	T	0.69953	-0.5005	9	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	11666;11791;11858;19090	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	18163;11666;11858;11791;11664	ENSP00000343764:D18163G;ENSP00000434586:D11666G;ENSP00000340554:D11858G;ENSP00000352154:D11791G	ENSP00000340554:D11858G	D	-	2	0	TTN	179162506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.196000	0.72094	2.367000	0.80283	0.528000	0.53228	GAC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179507021	179507021	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179507021G>A	ENST00000591111.1	-	169	35802	c.35578C>T	c.(35578-35580)Cgc>Tgc	p.R11860C	TTN_ENST00000589042.1_Missense_Mutation_p.R13501C|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933C|TTN_ENST00000460472.2_Missense_Mutation_p.R4436C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4561C|TTN_ENST00000342175.6_Missense_Mutation_p.R4628C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11860	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R10933C(1)|p.R4436C(1)|p.R4628C(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)			AGTAATTTGCGAACTTTCTTT	0.323																																					p.R4436C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C13306T	2						.						54.0	49.0	51.0					2																	179507021		1804	4066	5870	179215266	SO:0001583	missense	7273	exon47			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.35578C>T	2.37:g.179507021G>A	ENSP00000465570:p.Arg11860Cys		179215266	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	17.76	3.469489	0.63625	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.67865	-0.29;0.14;0.13;0.13	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77691	0.4168	L	0.46157	1.445	0.50171	D	0.999855	D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0	P;P;P;P;D	0.66196	0.635;0.635;0.635;0.635;0.942	T	0.79140	-0.1926	9	0.87932	D	0	.	19.494	0.95064	0.0:0.0:1.0:0.0	.	4436;4561;4628;11860;10627	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	C	10933;4436;4628;4561;4436;822;160	ENSP00000343764:R10933C;ENSP00000434586:R4436C;ENSP00000340554:R4628C;ENSP00000352154:R4561C	ENSP00000340554:R4628C	R	-	1	0	TTN	179215266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.410000	0.73294	2.610000	0.88304	0.591000	0.81541	CGC		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179585338	179585338	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179585338A>C	ENST00000591111.1	-	78	22424	c.22200T>G	c.(22198-22200)tcT>tcG	p.S7400S	TTN_ENST00000589042.1_Silent_p.S7717S|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.S6473S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12960	Ig-like 56.				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.S6473S(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)			GAATCACATCAGAACCTTTAA	0.388																																					p.S6473S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T19419G	2						.						43.0	39.0	41.0					2																	179585338		1808	4078	5886	179293583	SO:0001819	synonymous_variant	7273	exon77			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.22200T>G	2.37:g.179585338A>C			179293583	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																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179593455	179593455	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179593455C>A	ENST00000591111.1	-	64	18471	c.18247G>T	c.(18247-18249)Gat>Tat	p.D6083Y	TTN_ENST00000589042.1_Missense_Mutation_p.D6400Y|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5156Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12871	Ig-like 42.				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.D5156Y(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)			GTCATGGGATCTTTCTCCGTA	0.388																																					p.D5156Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15466T	2						.						103.0	94.0	97.0					2																	179593455		1874	4112	5986	179301700	SO:0001583	missense	7273	exon63			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.18247G>T	2.37:g.179593455C>A	ENSP00000465570:p.Asp6083Tyr		179301700	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	12.41	1.931048	0.34096	.	.	ENSG00000155657	ENST00000342992	T	0.47177	0.85	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74045	0.3665	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77122	-0.2704	9	0.87932	D	0	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	6083	Q8WZ42	TITIN_HUMAN	Y	5156	ENSP00000343764:D5156Y	ENSP00000343764:D5156Y	D	-	1	0	TTN	179301700	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GAT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179596853	179596853	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179596853T>C	ENST00000591111.1	-	55	16116	c.15892A>G	c.(15892-15894)Atg>Gtg	p.M5298V	TTN_ENST00000589042.1_Missense_Mutation_p.M5615V|TTN_ENST00000342992.6_Missense_Mutation_p.M4371V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12116	Ig-like 33.				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.M4371V(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)			GCCTCACACATATATTCACCA	0.433																																					p.M4371V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13111G	2						.						182.0	177.0	178.0					2																	179596853		1974	4161	6135	179305098	SO:0001583	missense	7273	exon54			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.15892A>G	2.37:g.179596853T>C	ENSP00000465570:p.Met5298Val		179305098	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	7.610	0.674541	0.14841	.	.	ENSG00000155657	ENST00000342992	T	0.39229	1.09	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18551	0.0445	N	0.01197	-0.965	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.10636	-1.0621	9	0.87932	D	0	.	11.0511	0.47889	0.0:0.0685:0.0:0.9315	.	5298	Q8WZ42	TITIN_HUMAN	V	4371	ENSP00000343764:M4371V	ENSP00000343764:M4371V	M	-	1	0	TTN	179305098	0.984000	0.35163	0.988000	0.46212	0.997000	0.91878	2.060000	0.41394	2.371000	0.80710	0.533000	0.62120	ATG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179616722	179616722	+	Intron	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179616722G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.R3469C|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			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.R3469C(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)			AAGGCGTCACGTGTATCCCTT	0.353																																					p.R3469C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10405T	2						.						132.0	147.0	142.0					2																	179616722		2203	4298	6501	179324967	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+1128C>T	2.37:g.179616722G>A			179324967	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	2.768	-0.256412	0.05829	.	.	ENSG00000155657	ENST00000360870;ENST00000446208	T	0.61627	0.09	5.86	3.86	0.44501	.	.	.	.	.	T	0.41903	0.1179	L	0.29908	0.895	0.37181	D	0.903512	P	0.42735	0.788	B	0.33042	0.157	T	0.51880	-0.8649	9	0.38643	T	0.18	.	14.6187	0.68569	0.0:0.0:0.7269:0.2731	.	3469	Q8WZ42-6	.	C	3469;74	ENSP00000354117:R3469C	ENSP00000354117:R3469C	R	-	1	0	TTN	179324967	0.004000	0.15560	0.065000	0.19835	0.033000	0.12548	1.182000	0.32029	1.459000	0.47892	0.655000	0.94253	CGT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179638073	179638073	+	Missense_Mutation	SNP	G	G	A	rs368574470		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179638073G>A	ENST00000591111.1	-	33	7842	c.7618C>T	c.(7618-7620)Cgt>Tgt	p.R2540C	TTN_ENST00000360870.5_Missense_Mutation_p.R2540C|TTN_ENST00000589042.1_Missense_Mutation_p.R2540C|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R2540C|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R2494C|TTN_ENST00000359218.5_Missense_Mutation_p.R2494C|TTN_ENST00000342175.6_Missense_Mutation_p.R2494C|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12863					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.R2494C(3)|p.R2540C(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)			GTAAGGTCACGAAGACCTCTG	0.353																																					p.R2540C												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C7618T	2						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4401		0,1,2200	38.0	40.0	40.0		7480,7618,7618,7480,7480	4.8	0.0	2		40	0,8598		0,0,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	180,180,180,180,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2494/26927,2540/33424,2540/5605,2494/27052,2494/27119	179638073	1,12999	2201	4299	6500	179346318	SO:0001583	missense	7273	exon33			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.7618C>T	2.37:g.179638073G>A	ENSP00000465570:p.Arg2540Cys		179346318	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	10.22	1.290544	0.23564	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.68	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63581	0.2523	L	0.38175	1.15	0.31212	N	0.69856	D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.987	P;P;P;P;B	0.47376	0.536;0.536;0.536;0.545;0.401	T	0.69060	-0.5245	9	0.87932	D	0	.	13.5787	0.61890	0.0:0.0:0.7174:0.2826	.	2494;2494;2494;2540;2540	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	2540;2494;2494;2494;2494;2540	ENSP00000343764:R2540C;ENSP00000434586:R2494C;ENSP00000340554:R2494C;ENSP00000352154:R2494C;ENSP00000354117:R2540C	ENSP00000340554:R2494C	R	-	1	0	TTN	179346318	1.000000	0.71417	0.028000	0.17463	0.966000	0.64601	4.049000	0.57397	1.356000	0.45884	0.650000	0.86243	CGT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179640556	179640556	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179640556G>T	ENST00000591111.1	-	28	6259	c.6035C>A	c.(6034-6036)gCc>gAc	p.A2012D	TTN_ENST00000360870.5_Missense_Mutation_p.A2012D|TTN_ENST00000589042.1_Missense_Mutation_p.A2012D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2012D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A1966D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A1966D|TTN_ENST00000342175.6_Missense_Mutation_p.A1966D|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12808					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.A1966D(3)|p.A2012D(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)			AGCGGTAATGGCTTCATAATA	0.448																																					p.A2012D												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C6035A	2						.						126.0	132.0	130.0					2																	179640556		2203	4300	6503	179348801	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.6035C>A	2.37:g.179640556G>T	ENSP00000465570:p.Ala2012Asp		179348801	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	12.91	2.078813	0.36662	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64085	-0.08;0.16;0.15;0.14;0.27	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.70894	0.3276	L	0.29908	0.895	0.42236	D	0.991914	D;D;D;D;D	0.76494	0.986;0.986;0.995;0.997;0.999	P;P;P;P;D	0.74023	0.738;0.738;0.82;0.895;0.982	T	0.75354	-0.3347	9	0.87932	D	0	.	18.5589	0.91094	0.0:0.0:1.0:0.0	.	1966;1966;1966;2012;2012	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2012;1966;1966;1966;1966;2012	ENSP00000343764:A2012D;ENSP00000434586:A1966D;ENSP00000340554:A1966D;ENSP00000352154:A1966D;ENSP00000354117:A2012D	ENSP00000340554:A1966D	A	-	2	0	TTN	179348801	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.817000	0.99352	2.387000	0.81309	0.609000	0.83330	GCC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179650454	179650454	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:179650454C>T	ENST00000591111.1	-	15	2610	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N	TTN_ENST00000360870.5_Missense_Mutation_p.D796N|TTN_ENST00000589042.1_Missense_Mutation_p.D796N|TTN_ENST00000342992.6_Missense_Mutation_p.D796N|TTN_ENST00000460472.2_Missense_Mutation_p.D750N|TTN_ENST00000359218.5_Missense_Mutation_p.D750N|TTN_ENST00000342175.6_Missense_Mutation_p.D750N			Q8WZ42	TITIN_HUMAN	titin	33630					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.D750N(3)|p.D796N(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)			GTTGTTAGATCTGTAGTTTTC	0.418																																					p.D796N												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G2386A	2						.						229.0	219.0	222.0					2																	179650454		2203	4300	6503	179358699	SO:0001583	missense	7273	exon15			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.2386G>A	2.37:g.179650454C>T	ENSP00000465570:p.Asp796Asn		179358699	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	16.22	3.061493	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63913	-0.07;0.18;0.17;0.16;0.23	5.51	5.51	0.81932	Ribonuclease H-like (1);	.	.	.	.	T	0.68879	0.3049	N	0.24115	0.695	0.30536	N	0.76698	P;P;P;P;D	0.76494	0.799;0.799;0.799;0.608;0.999	B;B;B;B;D	0.63283	0.214;0.214;0.214;0.202;0.913	T	0.69811	-0.5044	9	0.87932	D	0	.	19.7837	0.96428	0.0:1.0:0.0:0.0	.	750;750;750;796;796	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	796;750;750;750;750;796	ENSP00000343764:D796N;ENSP00000434586:D750N;ENSP00000340554:D750N;ENSP00000352154:D750N;ENSP00000354117:D796N	ENSP00000340554:D750N	D	-	1	0	TTN	179358699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.126000	0.71635	2.738000	0.93877	0.655000	0.94253	GAT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MYT1L	23040	broad.mit.edu	37	2	1843005	1843005	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:1843005G>A	ENST00000399161.2	-	21	3743	c.2996C>T	c.(2995-2997)tCg>tTg	p.S999L	MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.S997L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	999					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S999L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGTCTTGACCGACTTCCAGGA	0.652																																					p.S997L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2990T	2						.						36.0	42.0	40.0					2																	1843005		2038	4190	6228	1822012	SO:0001583	missense	23040	exon21			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2996C>T	2.37:g.1843005G>A	ENSP00000382114:p.Ser999Leu		1822012	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	15.64	2.892138	0.52014	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000399157;ENST00000428368	T;T	0.47869	0.83;0.83	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	L	0.31926	0.97	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.49163	-0.8968	10	0.17832	T	0.49	-17.009	19.5365	0.95255	0.0:0.0:1.0:0.0	.	999;997	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	999;945;53;997	ENSP00000382114:S999L;ENSP00000396103:S997L	ENSP00000295067:S945L	S	-	2	0	MYT1L	1822012	1.000000	0.71417	0.959000	0.39883	0.970000	0.65996	6.448000	0.73469	2.618000	0.88619	0.563000	0.77884	TCG		0.652	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
ITGA4	3676	broad.mit.edu	37	2	182347255	182347255	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:182347255T>C	ENST00000397033.2	+	9	1348	c.918T>C	c.(916-918)ttT>ttC	p.F306F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	306					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.F306F(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GATCGTACTTTGGAGCTTCTG	0.488																																					p.F306F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T918C	2						.						250.0	248.0	249.0					2																	182347255		1990	4180	6170	182055500	SO:0001819	synonymous_variant	3676	exon9				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.918T>C	2.37:g.182347255T>C			182055500	NM_000885	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	CCDS42788.1																																																																																				0.488	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
PDE1A	5136	broad.mit.edu	37	2	183053739	183053739	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:183053739G>A	ENST00000410103.1	-	12	1305	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PDE1A_ENST00000351439.5_Missense_Mutation_p.R392W|PDE1A_ENST00000358139.2_Missense_Mutation_p.R408W|PDE1A_ENST00000346717.4_Missense_Mutation_p.R374W|PDE1A_ENST00000409365.1_Missense_Mutation_p.R392W|PDE1A_ENST00000456212.1_Missense_Mutation_p.R408W|PDE1A_ENST00000331935.6_Missense_Mutation_p.R408W|PDE1A_ENST00000536095.1_Missense_Mutation_p.R304W|PDE1A_ENST00000435564.1_Missense_Mutation_p.R408W	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	408	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.R408W(4)		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)	GTTGACTTCCGATCACAAAGT	0.413																																					p.R408W												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.C1222T	2						.						189.0	196.0	194.0					2																	183053739		2203	4300	6503	182761984	SO:0001583	missense	5136	exon11				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.1222C>T	2.37:g.183053739G>A	ENSP00000387037:p.Arg408Trp		182761984	NM_005019	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543976	0.86022	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.6	5.6	0.85130	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	H	0.99130	4.44	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;0.999;1.0	D	0.96840	0.9617	10	0.87932	D	0	.	13.8753	0.63648	0.0:0.0:0.8477:0.1523	.	304;374;408;392;408	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	W	408;374;304;392;408;392;408;408;408	ENSP00000410309:R408W;ENSP00000329112:R374W;ENSP00000439938:R304W;ENSP00000386767:R392W;ENSP00000331574:R408W;ENSP00000309269:R392W;ENSP00000387037:R408W;ENSP00000350858:R408W;ENSP00000408874:R408W	ENSP00000331574:R408W	R	-	1	2	PDE1A	182761984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.075000	0.76798	2.793000	0.96121	0.591000	0.81541	CGG		0.413	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		
FAM171B	165215	broad.mit.edu	37	2	187615926	187615926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:187615926G>T	ENST00000304698.5	+	5	993	c.790G>T	c.(790-792)Gaa>Taa	p.E264*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	264						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.E264*(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						TGGAGGAAAAGAACTAAAGGT	0.343																																					p.E264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G790T	2						.						118.0	128.0	125.0					2																	187615926		2203	4300	6503	187324171	SO:0001587	stop_gained	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.790G>T	2.37:g.187615926G>T	ENSP00000304108:p.Glu264*		187324171	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Nonsense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	38	6.989855	0.97987	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	.	.	.	5.53	5.53	0.82687	.	0.101248	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.9817	17.6355	0.88121	0.0:0.0:1.0:0.0	.	.	.	.	X	264	.	ENSP00000272804:E264X	E	+	1	0	FAM171B	187324171	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.775000	0.85489	2.611000	0.88343	0.609000	0.83330	GAA		0.343	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
FAM171B	165215	broad.mit.edu	37	2	187626444	187626444	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:187626444G>A	ENST00000304698.5	+	8	1578	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	459						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.D459N(3)|p.D459H(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						AACTCGGGACGATTTTAAAAT	0.368																																					p.D459N												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(1)|endometrium(1)	c.G1375A	2						.						48.0	52.0	50.0					2																	187626444		2201	4297	6498	187334689	SO:0001583	missense	165215	exon8			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.1375G>A	2.37:g.187626444G>A	ENSP00000304108:p.Asp459Asn		187334689	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.855|1.855	-0.463988|-0.463988	0.04476|0.04476	.|.	.|.	ENSG00000144369|ENSG00000144369	ENST00000304698|ENST00000272804	T|.	0.30448|.	1.53|.	5.93|5.93	0.838|0.838	0.18902|0.18902	.|.	0.439260|.	0.28214|.	N|.	0.016164|.	T|T	0.08670|0.08670	0.0215|0.0215	N|N	0.02011|0.02011	-0.69|-0.69	0.23293|0.23293	N|N	0.997969|0.997969	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.36553|0.36553	-0.9743|-0.9743	10|6	0.02654|0.02654	T|T	1|1	-9.6007|-9.6007	5.3765|5.3765	0.16168|0.16168	0.5715:0.281:0.1475:0.0|0.5715:0.281:0.1475:0.0	.|.	459;460|.	Q6P995;A8K122|.	F171B_HUMAN;.|.	N|Q	459|426	ENSP00000304108:D459N|.	ENSP00000304108:D459N|ENSP00000272804:R426Q	D|R	+|+	1|2	0|0	FAM171B|FAM171B	187334689|187334689	0.998000|0.998000	0.40836|0.40836	0.990000|0.990000	0.47175|0.47175	0.974000|0.974000	0.67602|0.67602	1.698000|1.698000	0.37794|0.37794	0.114000|0.114000	0.18032|0.18032	-0.302000|-0.302000	0.09304|0.09304	GAT|CGA		0.368	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
CALCRL	10203	broad.mit.edu	37	2	188217025	188217025	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:188217025A>G	ENST00000409998.1	-	14	1725	c.944T>C	c.(943-945)gTt>gCt	p.V315A	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.V315A|CALCRL_ENST00000410068.1_Missense_Mutation_p.V315A			Q16602	CALRL_HUMAN	calcitonin receptor-like	315					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.V315A(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGTGATGAGAACGCGTACAAT	0.333																																					p.V315A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T944C	2						.						52.0	50.0	51.0					2																	188217025		2203	4299	6502	187925270	SO:0001583	missense	10203	exon13			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.944T>C	2.37:g.188217025A>G	ENSP00000386972:p.Val315Ala		187925270	NM_005795	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809543	0.90707	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.49432	0.78;0.78;0.78	5.82	5.82	0.92795	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000021	T	0.78188	0.4244	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85015	0.0908	10	0.87932	D	0	.	15.3496	0.74373	1.0:0.0:0.0:0.0	.	315	Q16602	CALRL_HUMAN	A	315	ENSP00000376177:V315A;ENSP00000386972:V315A;ENSP00000387190:V315A	ENSP00000376177:V315A	V	-	2	0	CALCRL	187925270	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.326000	0.96389	2.225000	0.72522	0.528000	0.53228	GTT		0.333	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	
MYT1L	23040	broad.mit.edu	37	2	1921062	1921062	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:1921062A>C	ENST00000399161.2	-	11	2280	c.1533T>G	c.(1531-1533)tgT>tgG	p.C511W	MYT1L_ENST00000428368.2_Missense_Mutation_p.C509W	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	511					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C511W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGGTTCCATCACACCCGGGGG	0.512																																					p.C509W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1527G	2						.						193.0	201.0	198.0					2																	1921062		1950	4165	6115	1900069	SO:0001583	missense	23040	exon11			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1533T>G	2.37:g.1921062A>C	ENSP00000382114:p.Cys511Trp		1900069	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	A	18.59	3.655832	0.67586	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.70631	-0.5;-0.07	5.73	0.589	0.17452	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83530	0.0090	10	0.87932	D	0	-21.0443	10.3665	0.44026	0.777:0.0:0.223:0.0	.	511;509	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	W	511;457;509	ENSP00000382114:C511W;ENSP00000396103:C509W	ENSP00000295067:C457W	C	-	3	2	MYT1L	1900069	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.357000	0.44125	-0.122000	0.11766	-0.290000	0.09829	TGT		0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
COL5A2	1290	broad.mit.edu	37	2	189899821	189899821	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:189899821G>T	ENST00000374866.3	-	53	4448	c.4174C>A	c.(4174-4176)Ctt>Att	p.L1392I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1392	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.L1392I(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTTGATAAAAGGCGCAAAAAA	0.393																																					p.L1392I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4174A	2						.						104.0	103.0	103.0					2																	189899821		2203	4300	6503	189608066	SO:0001583	missense	1290	exon53			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4174C>A	2.37:g.189899821G>T	ENSP00000364000:p.Leu1392Ile		189608066	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823200	0.71143	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.79141	-1.24	5.66	5.66	0.87406	Fibrillar collagen, C-terminal (4);	0.000000	0.43260	D	0.000593	D	0.88916	0.6567	M	0.87547	2.89	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.89979	0.4099	10	0.62326	D	0.03	.	13.9592	0.64168	0.0726:0.0:0.9274:0.0	.	1032;1392	Q5PR22;P05997	.;CO5A2_HUMAN	I	1392;1032	ENSP00000364000:L1392I	ENSP00000364000:L1392I	L	-	1	0	COL5A2	189608066	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.029000	0.88807	2.658000	0.90341	0.650000	0.86243	CTT		0.393	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
WDR75	84128	broad.mit.edu	37	2	190332278	190332278	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:190332278C>A	ENST00000314761.4	+	14	1592	c.1532C>A	c.(1531-1533)tCt>tAt	p.S511Y		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	511						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S511F(1)|p.S511Y(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)			GAAGATGGTTCTTTACTAGCA	0.383																																					p.S511Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1532A	2						.						154.0	148.0	150.0					2																	190332278		2203	4300	6503	190040523	SO:0001583	missense	84128	exon14			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.1532C>A	2.37:g.190332278C>A	ENSP00000314193:p.Ser511Tyr		190040523	NM_032168	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704058	0.88924	.	.	ENSG00000115368	ENST00000314761	T	0.05258	3.47	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28732	0.0712	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.00098	-1.2070	10	0.72032	D	0.01	-23.6302	20.5632	0.99335	0.0:1.0:0.0:0.0	.	511;511	A8K330;Q8IWA0	.;WDR75_HUMAN	Y	511	ENSP00000314193:S511Y	ENSP00000314193:S511Y	S	+	2	0	WDR75	190040523	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.892000	0.75644	2.937000	0.99478	0.650000	0.86243	TCT		0.383	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	
ASNSD1	54529	broad.mit.edu	37	2	190532551	190532551	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:190532551G>A	ENST00000260952.4	+	5	1939	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ASNSD1_ENST00000607062.1_Missense_Mutation_p.R28H	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	509	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.R509H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CATCGTGTCCGCTTTCAGTCG	0.403																																					p.R509H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1526A	2						.						115.0	118.0	117.0					2																	190532551		2203	4300	6503	190240796	SO:0001583	missense	54529	exon5			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1526G>A	2.37:g.190532551G>A	ENSP00000260952:p.Arg509His		190240796	NM_019048	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415292	0.42817	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.48836	0.8;0.8	5.33	4.45	0.53987	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.231729	0.44688	D	0.000422	T	0.53367	0.1792	M	0.83953	2.67	0.58432	D	0.999998	B	0.19073	0.033	B	0.21708	0.036	T	0.55823	-0.8080	10	0.52906	T	0.07	-0.3156	14.0241	0.64575	0.0729:0.0:0.9271:0.0	.	509	Q9NWL6	ASND1_HUMAN	H	509	ENSP00000260952:R509H;ENSP00000406790:R509H	ENSP00000260952:R509H	R	+	2	0	ASNSD1	190240796	1.000000	0.71417	0.813000	0.32504	0.718000	0.41266	9.476000	0.97823	1.249000	0.43950	0.561000	0.74099	CGC		0.403	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048	
MYT1L	23040	broad.mit.edu	37	2	1926535	1926535	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:1926535C>T	ENST00000399161.2	-	10	1753	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D336N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	336					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D336N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGGCCAGGTCGAAGCACTGA	0.567																																					p.D336N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1006A	2						.						69.0	74.0	73.0					2																	1926535		2144	4246	6390	1905542	SO:0001583	missense	23040	exon10			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1006G>A	2.37:g.1926535C>T	ENSP00000382114:p.Asp336Asn		1905542	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	34	5.361113	0.95877	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.58652	0.32;0.32	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69477	0.3115	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.985;0.998	T	0.70831	-0.4765	10	0.66056	D	0.02	-50.3725	19.9447	0.97177	0.0:1.0:0.0:0.0	.	336;336	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	336;284;336	ENSP00000382114:D336N;ENSP00000396103:D336N	ENSP00000295067:D284N	D	-	1	0	MYT1L	1905542	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.685000	0.84117	2.719000	0.93026	0.655000	0.94253	GAC		0.567	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
ANKAR	150709	broad.mit.edu	37	2	190608073	190608073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:190608073G>T	ENST00000520309.1	+	21	3971	c.3883G>T	c.(3883-3885)Gaa>Taa	p.E1295*	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.E1224*|ANKAR_ENST00000313581.4_Nonsense_Mutation_p.E1295*|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1295						integral component of membrane (GO:0016021)		p.E1224*(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CCTATTAAAAGAATGCAGGAA	0.338																																					p.E1295X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3883T	2						.						87.0	82.0	84.0					2																	190608073		2203	4300	6503	190316318	SO:0001587	stop_gained	150709	exon21			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3883G>T	2.37:g.190608073G>T	ENSP00000427882:p.Glu1295*		190316318	NM_144708	Q3ZCS6|Q4G0M2|Q6ZU02	Nonsense_Mutation	SNP	ENST00000520309.1	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	41	8.822510	0.98966	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575	.	.	.	5.05	5.05	0.67936	.	0.251657	0.31624	N	0.007327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7498	14.533	0.67939	0.0:0.1472:0.8528:0.0	.	.	.	.	X	1295;1295;1224	.	ENSP00000313513:E1295X	E	+	1	0	ANKAR	190316318	1.000000	0.71417	0.837000	0.33122	0.808000	0.45660	4.115000	0.57865	2.324000	0.78689	0.557000	0.71058	GAA		0.338	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
MYO1B	4430	broad.mit.edu	37	2	192228950	192228950	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:192228950G>A	ENST00000392318.3	+	11	1227	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	MYO1B_ENST00000304164.4_Missense_Mutation_p.R327Q|MYO1B_ENST00000339514.4_Missense_Mutation_p.R327Q|MYO1B_ENST00000392316.1_Missense_Mutation_p.R327Q	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	327	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R327Q(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTCAGTTTCCGAACAGTTGAG	0.418																																					p.R327Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980A	2						.						115.0	109.0	111.0					2																	192228950		2203	4300	6503	191937195	SO:0001583	missense	4430	exon11			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.980G>A	2.37:g.192228950G>A	ENSP00000376132:p.Arg327Gln		191937195	NM_012223	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700040	0.96802	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.62	5.62	0.85841	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.969	D	0.95507	0.8582	10	0.87932	D	0	.	18.2048	0.89851	0.0:0.0:1.0:0.0	.	327;327	O43795;O43795-2	MYO1B_HUMAN;.	Q	327	ENSP00000341903:R327Q;ENSP00000376132:R327Q;ENSP00000306382:R327Q;ENSP00000376130:R327Q	ENSP00000306382:R327Q	R	+	2	0	MYO1B	191937195	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.041000	0.93788	2.810000	0.96702	0.650000	0.86243	CGA		0.418	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
TMEFF2	23671	broad.mit.edu	37	2	192821034	192821034	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:192821034G>T	ENST00000272771.5	-	8	2000	c.816C>A	c.(814-816)ttC>ttA	p.F272L	TMEFF2_ENST00000392314.1_Missense_Mutation_p.F272L|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	272	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.F272L(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CATGCATGCAGAAGCCATTGT	0.388																																					p.F272L	Pancreas(50;1277 1381 28487 47072)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C816A	2						.						156.0	135.0	142.0					2																	192821034		2203	4300	6503	192529279	SO:0001583	missense	23671	exon8			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.816C>A	2.37:g.192821034G>T	ENSP00000272771:p.Phe272Leu		192529279	NM_016192	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847679	0.51164	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.14391	2.51;2.51	4.55	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.119600	0.64402	D	0.000014	T	0.16896	0.0406	M	0.61703	1.905	0.80722	D	1	B	0.25521	0.128	B	0.30316	0.114	T	0.02179	-1.1200	10	0.39692	T	0.17	-13.3047	11.3701	0.49694	0.0838:0.0:0.9162:0.0	.	272	Q9UIK5	TEFF2_HUMAN	L	272	ENSP00000376128:F272L;ENSP00000272771:F272L	ENSP00000272771:F272L	F	-	3	2	TMEFF2	192529279	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.282000	0.65615	2.499000	0.84300	0.491000	0.48974	TTC		0.388	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	
CCDC150	284992	broad.mit.edu	37	2	197586248	197586248	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:197586248T>C	ENST00000389175.4	+	21	2397	c.2262T>C	c.(2260-2262)atT>atC	p.I754I	CCDC150_ENST00000409270.1_Silent_p.I241I|CCDC150_ENST00000272831.7_Silent_p.I401I|CCDC150_ENST00000487663.1_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	754								p.I754I(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTTTCAGATTGAATCTCTAC	0.388																																					p.I754I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2262C	2						.						41.0	40.0	40.0					2																	197586248		1843	4089	5932	197294493	SO:0001819	synonymous_variant	284992	exon21				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2262T>C	2.37:g.197586248T>C			197294493	NM_001080539	Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	CCDS46478.1																																																																																				0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
PGAP1	80055	broad.mit.edu	37	2	197710733	197710733	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:197710733T>G	ENST00000354764.4	-	23	2273	c.2159A>C	c.(2158-2160)gAa>gCa	p.E720A		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	720					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.E720A(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TTTAGGAAGTTCAGAGGGTCT	0.318																																					p.E720A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2159C	2						.						66.0	64.0	65.0					2																	197710733		2202	4300	6502	197418978	SO:0001583	missense	80055	exon23				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2159A>C	2.37:g.197710733T>G	ENSP00000346809:p.Glu720Ala		197418978	NM_024989	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	8.457	0.854410	0.17106	.	.	ENSG00000197121	ENST00000354764	.	.	.	5.37	5.37	0.77165	.	0.391045	0.26380	N	0.024711	T	0.25158	0.0611	N	0.19112	0.55	0.80722	D	1	P	0.43788	0.817	B	0.39152	0.292	T	0.17198	-1.0377	9	0.07325	T	0.83	-21.7262	5.9299	0.19132	0.1474:0.0782:0.0:0.7744	.	720	Q75T13	PGAP1_HUMAN	A	720	.	ENSP00000346809:E720A	E	-	2	0	PGAP1	197418978	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.805000	0.27112	2.257000	0.74773	0.528000	0.53228	GAA		0.318	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	
ANKRD44	91526	broad.mit.edu	37	2	197866520	197866520	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:197866520G>A	ENST00000328737.2	-	22	2393	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	ANKRD44_ENST00000450567.1_Missense_Mutation_p.R773C|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R790C|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R773C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	798								p.R773C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATAAATTTGCGAAAACATTTT	0.333																																					p.R798C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2392T	2						.						106.0	106.0	106.0					2																	197866520		2203	4300	6503	197574765	SO:0001583	missense	91526	exon22			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2317C>T	2.37:g.197866520G>A	ENSP00000331516:p.Arg773Cys		197574765	NM_001195144	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	G	10.51	1.371791	0.24857	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	T;T;T;T;T	0.16196	2.39;2.39;2.36;2.36;2.36	5.16	4.28	0.50868	.	0.063704	0.64402	D	0.000003	T	0.31071	0.0785	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	P	0.61397	0.888	T	0.02758	-1.1114	10	0.56958	D	0.05	.	13.8162	0.63292	0.0744:0.0:0.9256:0.0	.	816	Q8N8A2-2	.	C	613;790;773;773;773	ENSP00000403415:R613C;ENSP00000282272:R790C;ENSP00000331516:R773C;ENSP00000402420:R773C;ENSP00000338794:R773C	ENSP00000282272:R790C	R	-	1	0	ANKRD44	197574765	1.000000	0.71417	0.906000	0.35671	0.164000	0.22412	5.666000	0.68059	1.287000	0.44583	0.591000	0.81541	CGC		0.333	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
ANKRD44	91526	broad.mit.edu	37	2	198001381	198001381	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:198001381G>A	ENST00000328737.2	-	4	197	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R41C|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R41C|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R66C|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R58C|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R66C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	66								p.R41C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCATTTACACGAGCTCCTGGA	0.468																																					p.R66C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196T	2						.						90.0	88.0	89.0					2																	198001381		2203	4300	6503	197709626	SO:0001583	missense	91526	exon4			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.121C>T	2.37:g.198001381G>A	ENSP00000331516:p.Arg41Cys		197709626	NM_153697	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	G	24.3	4.516497	0.85495	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000409919;ENST00000443014	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.91	5.91	0.95273	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.973;0.988	T	0.75918	-0.3148	10	0.72032	D	0.01	.	17.0175	0.86423	0.0:0.0:1.0:0.0	.	66;66	Q8N8A2;Q8N8A2-3	ANR44_HUMAN;.	C	58;41;41;41;66;66;41	ENSP00000282272:R58C;ENSP00000331516:R41C;ENSP00000402420:R41C;ENSP00000338794:R41C;ENSP00000387141:R66C;ENSP00000387233:R66C;ENSP00000399895:R41C	ENSP00000282272:R58C	R	-	1	0	ANKRD44	197709626	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.967000	0.56802	2.802000	0.96397	0.655000	0.94253	CGT		0.468	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
RFTN2	130132	broad.mit.edu	37	2	198480650	198480650	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:198480650G>A	ENST00000295049.4	-	7	1640	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	368					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.F368F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GAAGCCATCCGAATTCAGCCA	0.403																																					p.F368F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1104T	2						.						88.0	73.0	78.0					2																	198480650		2201	4289	6490	198188895	SO:0001819	synonymous_variant	130132	exon7			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1104C>T	2.37:g.198480650G>A			198188895	NM_144629	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	ENST00000295049.4	37	CCDS2323.1																																																																																				0.403	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629	
WDR35	57539	broad.mit.edu	37	2	20145647	20145647	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:20145647C>T	ENST00000345530.3	-	17	1893	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	WDR35_ENST00000416055.2_Missense_Mutation_p.R158Q|WDR35_ENST00000281405.4_Missense_Mutation_p.R582Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	593					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.R593Q(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)					GACATCTCTTCGTTCCAATTT	0.413																																					p.R593Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1778A	2						.						232.0	214.0	220.0					2																	20145647		2203	4300	6503	20009128	SO:0001583	missense	57539	exon17			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.1778G>A	2.37:g.20145647C>T	ENSP00000314444:p.Arg593Gln		20009128	NM_001006657	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465513	0.96257	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	M	0.89601	3.045	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;0.981;0.992	D	0.96623	0.9461	10	0.46703	T	0.11	-13.9274	18.3562	0.90358	0.0:1.0:0.0:0.0	.	593;582;593;158	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	Q	593;582;158;128	ENSP00000314444:R593Q;ENSP00000281405:R582Q;ENSP00000399159:R158Q;ENSP00000404409:R128Q	ENSP00000281405:R582Q	R	-	2	0	WDR35	20009128	1.000000	0.71417	0.906000	0.35671	0.872000	0.50106	7.818000	0.86416	2.580000	0.87095	0.650000	0.86243	CGA		0.413	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779	
WDR35	57539	broad.mit.edu	37	2	20153693	20153693	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:20153693C>T	ENST00000345530.3	-	13	1450	c.1335G>A	c.(1333-1335)tcG>tcA	p.S445S	WDR35_ENST00000416055.2_Silent_p.S10S|WDR35_ENST00000281405.4_Silent_p.S434S	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	445					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.S445S(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)					ATGCTTCTTTCGAGGCTGCTA	0.378																																					p.S445S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1335A	2						.						189.0	178.0	182.0					2																	20153693		2203	4300	6503	20017174	SO:0001819	synonymous_variant	57539	exon13			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.1335G>A	2.37:g.20153693C>T			20017174	NM_001006657	B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																				0.378	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779	
LAPTM4A	9741	broad.mit.edu	37	2	20234754	20234754	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:20234754A>G	ENST00000175091.4	-	5	1009	c.502T>C	c.(502-504)Ttc>Ctc	p.F168L		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	168					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.F168L(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGCAAAGAACACAAGAACA	0.408																																					p.F168L	Ovarian(90;1240 1386 7711 14384 46863)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T502C	2						.						115.0	99.0	104.0					2																	20234754		2203	4300	6503	20098235	SO:0001583	missense	9741	exon5			D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.502T>C	2.37:g.20234754A>G	ENSP00000175091:p.Phe168Leu		20098235	NM_014713	Q6UW22	Missense_Mutation	SNP	ENST00000175091.4	37	CCDS1696.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005423	0.74932	.	.	ENSG00000068697	ENST00000175091	T	0.43294	0.95	5.84	5.84	0.93424	.	0.046575	0.85682	D	0.000000	T	0.37461	0.1004	L	0.45581	1.43	0.58432	D	0.999999	P	0.34462	0.454	B	0.36567	0.228	T	0.15636	-1.0430	10	0.26408	T	0.33	-19.3505	11.6764	0.51432	0.8523:0.1477:0.0:0.0	.	168	Q15012	LAP4A_HUMAN	L	168	ENSP00000175091:F168L	ENSP00000175091:F168L	F	-	1	0	LAPTM4A	20098235	1.000000	0.71417	0.946000	0.38457	0.970000	0.65996	5.765000	0.68834	2.367000	0.80283	0.528000	0.53228	TTC		0.408	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713	
PLCL1	5334	broad.mit.edu	37	2	198949564	198949564	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:198949564C>T	ENST00000428675.1	+	2	1721	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	PLCL1_ENST00000437704.2_Silent_p.S343S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	441	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.S343S(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)	GCTGTCGAAGCGTTGAACTCG	0.408																																					p.S441S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1323T	2						.						62.0	60.0	60.0					2																	198949564		2203	4300	6503	198657809	SO:0001819	synonymous_variant	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.1323C>T	2.37:g.198949564C>T			198657809	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2																																																																																				0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
CLK1	1195	broad.mit.edu	37	2	201725975	201725975	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:201725975G>A	ENST00000321356.4	-	3	511	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000434813.2_Missense_Mutation_p.R168C|Y_RNA_ENST00000516950.1_RNA	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	126					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R126C(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGTGAACGACGATGTGAAGTA	0.368																																					p.R168C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C502T	2						.						164.0	164.0	164.0					2																	201725975		2203	4300	6503	201434220	SO:0001583	missense	1195	exon3			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.376C>T	2.37:g.201725975G>A	ENSP00000326830:p.Arg126Cys		201434220	NM_001162407	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232700	0.22626	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.69040	-0.36;-0.37	4.42	4.42	0.53409	.	0.432182	0.24076	N	0.041764	T	0.47078	0.1426	L	0.40543	1.245	0.44289	D	0.997152	P;P	0.51537	0.946;0.83	B;B	0.30495	0.116;0.116	T	0.51164	-0.8740	10	0.38643	T	0.18	.	8.8238	0.35043	0.1051:0.0:0.8949:0.0	.	168;126	B4DFW7;P49759	.;CLK1_HUMAN	C	126;126;168	ENSP00000326830:R126C;ENSP00000394734:R168C	ENSP00000326830:R126C	R	-	1	0	CLK1	201434220	0.995000	0.38212	0.939000	0.37840	0.988000	0.76386	4.397000	0.59690	2.179000	0.69175	0.650000	0.86243	CGT		0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2		
TRAK2	66008	broad.mit.edu	37	2	202262225	202262225	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:202262225G>A	ENST00000332624.3	-	7	1197	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	TRAK2_ENST00000430254.1_Splice_Site_p.R257C	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	257	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.R257C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TAATACTCACGAAGTTCTTTA	0.378																																					p.R257C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769T	2						.						139.0	138.0	138.0					2																	202262225		2202	4300	6502	201970470	SO:0001630	splice_region_variant	66008	exon7			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.769+1C>T	2.37:g.202262225G>A			201970470	NM_015049	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907863	0.92107	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.31247	1.5;1.5	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.92	T	0.45862	-0.9232	9	.	.	.	.	16.0801	0.81001	0.0:0.0:0.8655:0.1345	.	257;257	E7EV21;O60296	.;TRAK2_HUMAN	C	257;163;257	ENSP00000328875:R257C;ENSP00000409333:R257C	.	R	-	1	0	TRAK2	201970470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.125000	0.57931	2.941000	0.99782	0.655000	0.94253	CGT		0.378	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	Missense_Mutation
ALS2CR11	151254	broad.mit.edu	37	2	202466575	202466575	+	Missense_Mutation	SNP	G	G	A	rs370301019		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:202466575G>A	ENST00000286195.3	-	4	447	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.R135C|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.R135C|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.R135C	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	135								p.R135C(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATAGAGATGCGAATGAATAAA	0.269													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16736	0.0		0.0	False		,,,				2504	0.0				p.R135C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403T	2						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	3,4401	4.2+/-10.8	0,3,2199	81.0	75.0	77.0		403,403,403,403	3.3	1.0	2		77	0,8578		0,0,4289	no	missense,missense,missense,missense	ALS2CR11	NM_001168216.1,NM_001168217.1,NM_001168221.1,NM_152525.5	180,180,180,180	0,3,6488	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	135/396,135/551,135/1821,135/624	202466575	3,12979	2202	4289	6491	202174820	SO:0001583	missense	151254	exon4			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.403C>T	2.37:g.202466575G>A	ENSP00000286195:p.Arg135Cys		202174820	NM_152525	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380027	0.42207	6.81E-4	0.0	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.1	3.31	0.37934	.	0.764210	0.11314	N	0.576842	T	0.57888	0.2084	L	0.59436	1.845	0.42629	D	0.993375	P;D;D	0.89917	0.945;1.0;1.0	B;D;D	0.85130	0.343;0.994;0.997	T	0.53330	-0.8454	10	0.87932	D	0	.	7.5926	0.28029	0.1913:0.0:0.8087:0.0	.	135;135;135	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	C	135	ENSP00000286195:R135C;ENSP00000400672:R135C;ENSP00000409937:R135C;ENSP00000399016:R135C	ENSP00000286195:R135C	R	-	1	0	ALS2CR11	202174820	1.000000	0.71417	0.953000	0.39169	0.349000	0.29174	2.091000	0.41691	0.742000	0.32697	0.411000	0.27672	CGC		0.269	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	
MPP4	58538	broad.mit.edu	37	2	202514862	202514862	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:202514862C>T	ENST00000409474.3	-	19	1615	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	MPP4_ENST00000359962.5_Missense_Mutation_p.E470K|MPP4_ENST00000447335.2_Missense_Mutation_p.E463K|MPP4_ENST00000315506.7_Missense_Mutation_p.E426K|MPP4_ENST00000396886.3_Missense_Mutation_p.E395K|MPP4_ENST00000409143.1_Missense_Mutation_p.E412K|MPP4_ENST00000428900.2_Missense_Mutation_p.E446K	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	470	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.E470K(1)		kidney(1)|lung(11)	12						CCATTCATTTCGTAACTCTTT	0.353																																					p.E470K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1408A	2						.						106.0	92.0	96.0					2																	202514862		1846	4088	5934	202223107	SO:0001583	missense	58538	exon19			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1408G>A	2.37:g.202514862C>T	ENSP00000387278:p.Glu470Lys		202223107	NM_033066	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229395	0.95173	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.51	5.51	0.81932	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.979;0.998;0.992;0.988;0.987;0.992;0.992;0.99	D	0.85713	0.1320	10	0.87932	D	0	.	19.614	0.95622	0.0:1.0:0.0:0.0	.	412;395;446;439;426;463;470;435	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	K	470;426;395;470;435;399;446;412;463	ENSP00000387278:E470K;ENSP00000319363:E426K;ENSP00000353047:E470K;ENSP00000416781:E446K;ENSP00000387293:E412K;ENSP00000406160:E463K	ENSP00000319363:E426K	E	-	1	0	MPP4	202223107	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	6.748000	0.74877	2.873000	0.98535	0.561000	0.74099	GAA		0.353	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
MPP4	58538	broad.mit.edu	37	2	202552034	202552034	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:202552034G>A	ENST00000409474.3	-	5	547	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	MPP4_ENST00000359962.5_Missense_Mutation_p.L114F|MPP4_ENST00000447335.2_Missense_Mutation_p.L114F|MPP4_ENST00000315506.7_Missense_Mutation_p.L114F|MPP4_ENST00000396886.3_Missense_Mutation_p.L114F|MPP4_ENST00000409143.1_Intron|MPP4_ENST00000428900.2_Missense_Mutation_p.L114F	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	114	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.L114F(1)		kidney(1)|lung(11)	12						GGAGCCTGGAGCATTTGTCTC	0.408																																					p.L114F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340T	2						.						69.0	68.0	68.0					2																	202552034		1842	4094	5936	202260279	SO:0001583	missense	58538	exon5			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.340C>T	2.37:g.202552034G>A	ENSP00000387278:p.Leu114Phe		202260279	NM_033066	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921335	0.73213	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000428900;ENST00000447335	T;T;T;T;T	0.22945	2.02;1.93;2.03;2.02;2.03	5.97	5.08	0.68730	L27, C-terminal (1);L27 (2);	0.000000	0.64402	D	0.000001	T	0.55847	0.1946	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;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	0.97110	0.986;1.0;1.0;0.999;1.0;0.999;0.999;1.0;1.0	T	0.64106	-0.6485	10	0.87932	D	0	.	16.4425	0.83906	0.0:0.0:0.8676:0.1324	.	114;114;114;114;114;114;127;114;114	B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;MPP4_HUMAN;.	F	114	ENSP00000387278:L114F;ENSP00000319363:L114F;ENSP00000353047:L114F;ENSP00000416781:L114F;ENSP00000406160:L114F	ENSP00000319363:L114F	L	-	1	0	MPP4	202260279	1.000000	0.71417	0.971000	0.41717	0.702000	0.40608	4.885000	0.63142	1.493000	0.48517	0.655000	0.94253	CTC		0.408	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
ALS2	57679	broad.mit.edu	37	2	202591415	202591415	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:202591415G>A	ENST00000264276.6	-	18	3526	c.3154C>T	c.(3154-3156)Cgc>Tgc	p.R1052C	ALS2_ENST00000457679.2_Missense_Mutation_p.R364C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1052					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.R1052C(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						GAAAGCCAGCGTCCATCATAG	0.443																																					p.R1052C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3154T	2						.						86.0	84.0	85.0					2																	202591415		1949	4144	6093	202299660	SO:0001583	missense	57679	exon18			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.3154C>T	2.37:g.202591415G>A	ENSP00000264276:p.Arg1052Cys		202299660	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984369	0.74474	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.54675	0.56;0.56	5.72	5.72	0.89469	.	0.198979	0.52532	D	0.000064	T	0.56529	0.1991	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.959	T	0.61850	-0.6978	10	0.72032	D	0.01	.	15.9036	0.79403	0.0:0.0:0.8568:0.1432	.	1052;1052	Q6IQ41;Q96Q42	.;ALS2_HUMAN	C	1052;364	ENSP00000264276:R1052C;ENSP00000394823:R364C	ENSP00000264276:R1052C	R	-	1	0	ALS2	202299660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.305000	0.51873	2.850000	0.98022	0.650000	0.86243	CGC		0.443	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
ALS2	57679	broad.mit.edu	37	2	202622157	202622157	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:202622157C>T	ENST00000264276.6	-	5	1811	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	480					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.R480Q(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						GGAGAGTCTTCGACTGCCTCC	0.433																																					p.R480Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1439A	2						.						179.0	166.0	170.0					2																	202622157		1868	4099	5967	202330402	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.1439G>A	2.37:g.202622157C>T	ENSP00000264276:p.Arg480Gln		202330402	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128587	0.94473	.	.	ENSG00000003393	ENST00000264276	T	0.58652	0.32	5.9	5.9	0.94986	.	0.129815	0.51477	D	0.000094	T	0.67841	0.2936	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.989;0.982	T	0.63382	-0.6650	10	0.33141	T	0.24	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	480;480;480	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	Q	480	ENSP00000264276:R480Q	ENSP00000264276:R480Q	R	-	2	0	ALS2	202330402	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	6.924000	0.75823	2.786000	0.95864	0.563000	0.77884	CGA		0.433	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
NBEAL1	65065	broad.mit.edu	37	2	204000701	204000701	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:204000701T>C	ENST00000449802.1	+	27	4361	c.4028T>C	c.(4027-4029)tTa>tCa	p.L1343S		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1343								p.L1343S(1)|p.L53S(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						AACACACCATTATTTCCAGAA	0.398																																					p.L1343S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4028C	2						.						94.0	87.0	89.0					2																	204000701		1848	4095	5943	203708946	SO:0001583	missense	65065	exon27			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.4028T>C	2.37:g.204000701T>C	ENSP00000399903:p.Leu1343Ser		203708946	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	8.561	0.877678	0.17395	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.54479	0.57	4.69	3.44	0.39384	.	1.413120	0.04602	N	0.398646	T	0.36220	0.0959	N	0.21448	0.665	0.32058	N	0.596094	B;B	0.14438	0.01;0.01	B;B	0.15484	0.013;0.013	T	0.46857	-0.9161	10	0.20519	T	0.43	.	3.0479	0.06160	0.0:0.2145:0.2271:0.5584	.	1343;1332	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	S	1343	ENSP00000399903:L1343S	ENSP00000344985:L1343S	L	+	2	0	NBEAL1	203708946	0.991000	0.36638	0.991000	0.47740	0.883000	0.51084	2.633000	0.46519	1.896000	0.54893	0.533000	0.62120	TTA		0.398	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
RAPH1	65059	broad.mit.edu	37	2	204309642	204309642	+	Silent	SNP	G	G	A	rs377610950		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:204309642G>A	ENST00000319170.5	-	13	2024	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	RAPH1_ENST00000374488.2_Silent_p.S600S|RAPH1_ENST00000439222.1_Silent_p.S600S|RAPH1_ENST00000419464.1_Silent_p.S575S|RAPH1_ENST00000374493.3_Silent_p.S627S|RAPH1_ENST00000423104.1_Silent_p.S602S|RAPH1_ENST00000457812.1_Silent_p.S575S|RAPH1_ENST00000418114.1_Silent_p.S575S|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374489.2_Silent_p.S602S|RAPH1_ENST00000308091.4_Silent_p.S627S|RAPH1_ENST00000453034.1_Silent_p.S627S	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	575					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.S575S(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						CAGAGAATACGGAGCTCACAA	0.458																																					p.S627S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1881T	2						.	G	,	1,4405	2.1+/-5.4	0,1,2202	138.0	137.0	137.0		1881,1725	2.0	1.0	2		137	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RAPH1	NM_203365.2,NM_213589.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	627/645,575/1251	204309642	1,13005	2203	4300	6503	204017887	SO:0001819	synonymous_variant	65059	exon15			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.1725C>T	2.37:g.204309642G>A			204017887	NM_203365	Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																				0.458	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252	
RAPH1	65059	broad.mit.edu	37	2	204354396	204354396	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:204354396C>T	ENST00000319170.5	-	4	942	c.643G>A	c.(643-645)Gca>Aca	p.A215T	RAPH1_ENST00000374488.2_Missense_Mutation_p.A215T|RAPH1_ENST00000439222.1_Missense_Mutation_p.A215T|RAPH1_ENST00000419464.1_Missense_Mutation_p.A215T|RAPH1_ENST00000374493.3_Missense_Mutation_p.A215T|RAPH1_ENST00000423104.1_Missense_Mutation_p.A215T|RAPH1_ENST00000457812.1_Missense_Mutation_p.A215T|RAPH1_ENST00000418114.1_Missense_Mutation_p.A215T|RAPH1_ENST00000374489.2_Missense_Mutation_p.A215T|RAPH1_ENST00000308091.4_Missense_Mutation_p.A215T|RAPH1_ENST00000453034.1_Missense_Mutation_p.A215T	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	215					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.A215T(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						CTGGAGGCTGCGGAAGTGATG	0.453																																					p.A215T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G643A	2						.						145.0	141.0	142.0					2																	204354396		2203	4300	6503	204062641	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.643G>A	2.37:g.204354396C>T	ENSP00000316543:p.Ala215Thr		204062641	NM_203365	Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254650	0.80135	.	.	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	0.59502	0.52;0.56;0.27;0.38;0.36;0.26;0.36;0.52;0.38;0.26;0.52	5.78	5.78	0.91487	.	0.000000	0.48286	D	0.000196	T	0.71576	0.3356	L	0.48642	1.525	0.58432	D	0.999999	P;D;D	0.89917	0.911;0.998;1.0	B;P;D	0.67103	0.32;0.825;0.949	T	0.72340	-0.4323	10	0.72032	D	0.01	-16.9866	20.0044	0.97430	0.0:1.0:0.0:0.0	.	215;215;215	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	T	215	ENSP00000392854:A215T;ENSP00000316543:A215T;ENSP00000363617:A215T;ENSP00000363613:A215T;ENSP00000363612:A215T;ENSP00000311293:A215T;ENSP00000411138:A215T;ENSP00000390578:A215T;ENSP00000397751:A215T;ENSP00000406662:A215T;ENSP00000396711:A215T	ENSP00000311293:A215T	A	-	1	0	RAPH1	204062641	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.653000	0.61462	2.714000	0.92807	0.650000	0.86243	GCA		0.453	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252	
NRP2	8828	broad.mit.edu	37	2	206610475	206610475	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:206610475C>T	ENST00000357785.5	+	10	1678	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	NRP2_ENST00000360409.3_Silent_p.F549F|NRP2_ENST00000272849.3_Silent_p.F549F|NRP2_ENST00000540178.1_Silent_p.F549F|NRP2_ENST00000412873.2_Silent_p.F549F|NRP2_ENST00000357118.4_Silent_p.F549F|NRP2_ENST00000540841.1_Silent_p.F549F			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.F549F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGCAGCTGTTCGAAGGGAACA	0.612																																					p.F549F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1647T	2						.						87.0	69.0	75.0					2																	206610475		2203	4300	6503	206318720	SO:0001819	synonymous_variant	8828	exon10			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1647C>T	2.37:g.206610475C>T			206318720	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	CCDS46496.1																																																																																				0.612	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
NRP2	8828	broad.mit.edu	37	2	206630206	206630206	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:206630206C>T	ENST00000357785.5	+	14	2347	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000360409.3_Silent_p.F772F|NRP2_ENST00000272849.3_Silent_p.F772F|NRP2_ENST00000540178.1_Silent_p.F772F|NRP2_ENST00000412873.2_Silent_p.F772F|NRP2_ENST00000357118.4_Silent_p.F772F|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000540841.1_Silent_p.F772F|AC007362.3_ENST00000423425.1_RNA|AC007362.3_ENST00000596616.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.F772F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGATTGTGTTCGAGGGAGTGA	0.458																																					p.F772F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2316T	2						.						205.0	198.0	200.0					2																	206630206		2203	4300	6503	206338451	SO:0001819	synonymous_variant	8828	exon14			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2316C>T	2.37:g.206630206C>T			206338451	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	CCDS46496.1																																																																																				0.458	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
NDUFS1	4719	broad.mit.edu	37	2	207009706	207009706	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:207009706A>C	ENST00000233190.6	-	9	1048	c.782T>G	c.(781-783)aTt>aGt	p.I261S	NDUFS1_ENST00000440274.1_Missense_Mutation_p.I225S|NDUFS1_ENST00000449699.1_Missense_Mutation_p.I261S|NDUFS1_ENST00000423725.1_Missense_Mutation_p.I204S|NDUFS1_ENST00000432169.1_Missense_Mutation_p.I150S|NDUFS1_ENST00000457011.1_Missense_Mutation_p.I145S|NDUFS1_ENST00000455934.2_Missense_Mutation_p.I275S	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	261	4Fe-4S Mo/W bis-MGD-type. {ECO:0000255|PROSITE-ProRule:PRU01004}.				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.I261S(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						GCTAACCACAATATTACTTCC	0.393																																					p.I261S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T782G	2						.						185.0	156.0	166.0					2																	207009706		2203	4300	6503	206717951	SO:0001583	missense	4719	exon9				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.782T>G	2.37:g.207009706A>C	ENSP00000233190:p.Ile261Ser		206717951	NM_005006	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569876	0.86542	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	H	0.97635	4.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.984;0.984;0.988;0.988	D	0.97415	1.0005	10	0.87932	D	0	-0.6302	15.0939	0.72217	1.0:0.0:0.0:0.0	.	150;225;275;261	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	S	261;204;145;225;275;261;150	ENSP00000233190:I261S;ENSP00000397760:I204S;ENSP00000400976:I145S;ENSP00000409766:I225S;ENSP00000392709:I275S;ENSP00000399912:I261S;ENSP00000409689:I150S	ENSP00000233190:I261S	I	-	2	0	NDUFS1	206717951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.213000	0.95133	2.025000	0.59659	0.533000	0.62120	ATT		0.393	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	
ZDBF2	57683	broad.mit.edu	37	2	207162062	207162062	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:207162062A>G	ENST00000374423.3	+	4	539	c.153A>G	c.(151-153)gtA>gtG	p.V51V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	51							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V51V(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TACAGGATGTACTGCAGCACC	0.383																																					p.V51V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A153G	2						.						145.0	138.0	140.0					2																	207162062		1926	4132	6058	206870307	SO:0001819	synonymous_variant	57683	exon4			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.153A>G	2.37:g.207162062A>G			206870307	NM_020923	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207170072	207170072	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:207170072G>T	ENST00000374423.3	+	5	1206	c.820G>T	c.(820-822)Gat>Tat	p.D274Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	274							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D274Y(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGTGGAAAGATGTAAAATC	0.353																																					p.D274Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G820T	2						.						32.0	30.0	31.0					2																	207170072		1828	4073	5901	206878317	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.820G>T	2.37:g.207170072G>T	ENSP00000363545:p.Asp274Tyr		206878317	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.140862	0.37825	.	.	ENSG00000204186	ENST00000374423	T	0.18174	2.23	5.11	3.28	0.37604	.	0.831758	0.09807	N	0.753378	T	0.29321	0.0730	L	0.47716	1.5	0.09310	N	1	D	0.69078	0.997	P	0.58577	0.841	T	0.12528	-1.0544	10	0.66056	D	0.02	.	9.197	0.37235	0.1703:0.0:0.8297:0.0	.	274	Q9HCK1	ZDBF2_HUMAN	Y	274	ENSP00000363545:D274Y	ENSP00000363545:D274Y	D	+	1	0	ZDBF2	206878317	0.913000	0.31002	0.001000	0.08648	0.348000	0.29142	0.700000	0.25601	0.530000	0.28619	0.650000	0.86243	GAT		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207174160	207174160	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:207174160G>A	ENST00000374423.3	+	5	5294	c.4908G>A	c.(4906-4908)atG>atA	p.M1636I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1636							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.M1636I(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATCAGTCCATGACTTACGAGT	0.353																																					p.M1636I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4908A	2						.						49.0	49.0	49.0					2																	207174160		1835	4093	5928	206882405	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.4908G>A	2.37:g.207174160G>A	ENSP00000363545:p.Met1636Ile		206882405	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	1.278	-0.611127	0.03690	.	.	ENSG00000204186	ENST00000374423	T	0.40756	1.02	3.93	1.68	0.24146	.	.	.	.	.	T	0.26846	0.0657	L	0.40543	1.245	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.23154	-1.0196	9	0.16896	T	0.51	.	3.1289	0.06417	0.1813:0.0:0.5656:0.2531	.	1636	Q9HCK1	ZDBF2_HUMAN	I	1636	ENSP00000363545:M1636I	ENSP00000363545:M1636I	M	+	3	0	ZDBF2	206882405	0.000000	0.05858	0.001000	0.08648	0.089000	0.18198	0.268000	0.18571	0.395000	0.25257	0.655000	0.94253	ATG		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
DYTN	391475	broad.mit.edu	37	2	207527657	207527657	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:207527657T>C	ENST00000452335.2	-	11	1719	c.1603A>G	c.(1603-1605)Atg>Gtg	p.M535V		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	535						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.M535V(1)		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)		AAGGCATCCATAAGTTTTGAC	0.433																																					p.M535V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1603G	2						.						276.0	271.0	273.0					2																	207527657		1961	4140	6101	207235902	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.1603A>G	2.37:g.207527657T>C	ENSP00000396593:p.Met535Val		207235902	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	T	5.134	0.210266	0.09757	.	.	ENSG00000232125	ENST00000452335	T	0.14766	2.48	5.13	-2.4	0.06583	.	.	.	.	.	T	0.07458	0.0188	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37220	-0.9715	9	0.32370	T	0.25	-0.1195	6.7907	0.23697	0.0:0.1658:0.5123:0.3219	.	535	A2CJ06	DYTN_HUMAN	V	535	ENSP00000396593:M535V	ENSP00000396593:M535V	M	-	1	0	DYTN	207235902	0.107000	0.21998	0.004000	0.12327	0.217000	0.24651	-0.152000	0.10159	-0.445000	0.07159	-0.899000	0.02877	ATG		0.433	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
CPO	130749	broad.mit.edu	37	2	207804384	207804384	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:207804384T>C	ENST00000272852.3	+	1	107	c.61T>C	c.(61-63)Tat>Cat	p.Y21H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	21						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Y21H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AGGGCTGGGATATGATAGGTG	0.423																																					p.Y21H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T61C	2						.						145.0	143.0	143.0					2																	207804384		2203	4300	6503	207512629	SO:0001583	missense	130749	exon1				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.61T>C	2.37:g.207804384T>C	ENSP00000272852:p.Tyr21His		207512629	NM_173077	Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	T	9.438	1.087359	0.20390	.	.	ENSG00000144410	ENST00000272852	T	0.15017	2.46	4.59	-0.416	0.12351	.	0.594469	0.13760	N	0.364654	T	0.09686	0.0238	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25882	-1.0119	10	0.46703	T	0.11	.	7.2431	0.26107	0.0:0.4169:0.0:0.5831	.	21	Q8IVL8	CBPO_HUMAN	H	21	ENSP00000272852:Y21H	ENSP00000272852:Y21H	Y	+	1	0	CPO	207512629	0.122000	0.22280	0.009000	0.14445	0.515000	0.34225	-0.137000	0.10389	-0.148000	0.11234	0.397000	0.26171	TAT		0.423	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077	
CPO	130749	broad.mit.edu	37	2	207825643	207825643	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:207825643G>A	ENST00000272852.3	+	6	597	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	184						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R184Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GATCTCAATCGAAATTTCAAT	0.383																																					p.R184Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G551A	2						.						210.0	190.0	197.0					2																	207825643		2203	4300	6503	207533888	SO:0001583	missense	130749	exon6				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.551G>A	2.37:g.207825643G>A	ENSP00000272852:p.Arg184Gln		207533888	NM_173077	Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	G	34	5.407971	0.96051	.	.	ENSG00000144410	ENST00000272852	T	0.64803	-0.12	5.09	5.09	0.68999	Peptidase M14, carboxypeptidase A (3);	0.130312	0.51477	D	0.000082	D	0.83358	0.5237	H	0.96996	3.92	0.40071	D	0.976014	D	0.61080	0.989	P	0.56865	0.808	D	0.89503	0.3765	10	0.87932	D	0	.	16.1033	0.81203	0.0:0.0:1.0:0.0	.	184	Q8IVL8	CBPO_HUMAN	Q	184	ENSP00000272852:R184Q	ENSP00000272852:R184Q	R	+	2	0	CPO	207533888	0.995000	0.38212	0.922000	0.36590	0.964000	0.63967	6.848000	0.75409	2.660000	0.90430	0.555000	0.69702	CGA		0.383	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077	
PIKFYVE	200576	broad.mit.edu	37	2	209215528	209215528	+	Missense_Mutation	SNP	G	G	A	rs371109177		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:209215528G>A	ENST00000264380.4	+	37	5626	c.5468G>A	c.(5467-5469)cGg>cAg	p.R1823Q		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1823	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				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.R1823Q(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						TTTTACTGTCGGCTCTACTAT	0.418																																					p.R1823Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5468A	2						.	G	GLN/ARG	0,4406		0,0,2203	121.0	120.0	120.0		5468	5.4	1.0	2		120	2,8598	2.2+/-6.3	0,2,4298	no	missense	PIKFYVE	NM_015040.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1823/2099	209215528	2,13004	2203	4300	6503	208923773	SO:0001583	missense	200576	exon37			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.5468G>A	2.37:g.209215528G>A	ENSP00000264380:p.Arg1823Gln		208923773	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415642	0.96092	0.0	2.33E-4	ENSG00000115020	ENST00000264380	T	0.29917	1.55	5.43	5.43	0.79202	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	L	0.39467	1.215	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.36696	-0.9737	10	0.51188	T	0.08	-13.8009	17.4163	0.87500	0.0:0.0:1.0:0.0	.	1823	Q9Y2I7	FYV1_HUMAN	Q	1823	ENSP00000264380:R1823Q	ENSP00000264380:R1823Q	R	+	2	0	PIKFYVE	208923773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.675000	0.98638	2.554000	0.86153	0.655000	0.94253	CGG		0.418	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
MAP2	4133	broad.mit.edu	37	2	210558484	210558484	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:210558484G>T	ENST00000360351.4	+	7	2096	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K526N|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	530					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.K530N(3)		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)	TAATTGAAAAGAGCTCAATTC	0.408																																					p.K530N	Pancreas(27;423 979 28787 29963)											.	.	3	Substitution - Missense(3)	large_intestine(2)|breast(1)	c.G1590T	2						.						88.0	88.0	88.0					2																	210558484		2203	4300	6503	210266729	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.1590G>T	2.37:g.210558484G>T	ENSP00000353508:p.Lys530Asn		210266729	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187961	0.21954	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.22539	1.95;1.95	6.16	4.32	0.51571	MAP2/Tau projection (1);	0.175469	0.40302	N	0.001127	T	0.30759	0.0775	L	0.56769	1.78	0.21841	N	0.999519	P;P	0.51147	0.928;0.942	P;P	0.52386	0.572;0.697	T	0.11991	-1.0565	10	0.87932	D	0	-15.9978	8.8039	0.34925	0.2349:0.0:0.7651:0.0	.	526;530	P11137-3;P11137	.;MAP2_HUMAN	N	530;526	ENSP00000353508:K530N;ENSP00000392164:K526N	ENSP00000353508:K530N	K	+	3	2	MAP2	210266729	0.991000	0.36638	0.942000	0.38095	0.044000	0.14063	1.626000	0.37039	0.877000	0.35895	-0.143000	0.13931	AAG		0.408	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MAP2	4133	broad.mit.edu	37	2	210595096	210595096	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:210595096C>T	ENST00000360351.4	+	15	5965	c.5459C>T	c.(5458-5460)gCt>gTt	p.A1820V	MAP2_ENST00000199940.6_Missense_Mutation_p.A552V|MAP2_ENST00000447185.1_Missense_Mutation_p.A1816V|MAP2_ENST00000392194.1_Missense_Mutation_p.A464V|MAP2_ENST00000361559.4_Missense_Mutation_p.A464V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1820					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.A1820V(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)	GATGTCACTGCTGCACTCGCT	0.493																																					p.A495V	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1484T	2						.						58.0	50.0	53.0					2																	210595096		2203	4300	6503	210303341	SO:0001583	missense	4133	exon13				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.5459C>T	2.37:g.210595096C>T	ENSP00000353508:p.Ala1820Val		210303341	NM_031847	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557705	0.86231	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.38077	1.16;2.34;1.47;1.47;2.34	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000034	T	0.57666	0.2069	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.993;1.0;0.995	D;D;D;D;D	0.85130	0.997;0.996;0.978;0.997;0.963	T	0.58329	-0.7655	10	0.87932	D	0	-17.6102	19.5555	0.95345	0.0:1.0:0.0:0.0	.	1816;464;465;1820;552	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	V	552;1820;464;464;1816	ENSP00000199940:A552V;ENSP00000353508:A1820V;ENSP00000355290:A464V;ENSP00000376032:A464V;ENSP00000392164:A1816V	ENSP00000199940:A552V	A	+	2	0	MAP2	210303341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.003000	0.70701	2.628000	0.89032	0.650000	0.86243	GCT		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
UNC80	285175	broad.mit.edu	37	2	210658504	210658504	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:210658504T>G	ENST00000439458.1	+	7	939	c.859T>G	c.(859-861)Tca>Gca	p.S287A	UNC80_ENST00000272845.6_Missense_Mutation_p.S287A|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	287					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S287A(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGCCACCATTTCAGGCTGTCA	0.478																																					p.S287A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T859G	2						.						114.0	103.0	106.0					2																	210658504		2203	4300	6503	210366749	SO:0001583	missense	285175	exon7			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.859T>G	2.37:g.210658504T>G	ENSP00000391088:p.Ser287Ala		210366749	NM_182587	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.639973	0.47153	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.30182	1.54;1.54	5.11	3.87	0.44632	.	0.385253	0.27522	N	0.018984	T	0.23370	0.0565	L	0.34521	1.04	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.07102	-1.0790	10	0.56958	D	0.05	.	11.0099	0.47657	0.0:0.0:0.1557:0.8443	.	287;287	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	A	287	ENSP00000391088:S287A;ENSP00000272845:S287A	ENSP00000272845:S287A	S	+	1	0	UNC80	210366749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.928000	0.40104	2.058000	0.61347	0.533000	0.62120	TCA		0.478	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
APOB	338	broad.mit.edu	37	2	21228053	21228053	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:21228053G>A	ENST00000233242.1	-	26	11814	c.11687C>T	c.(11686-11688)gCc>gTc	p.A3896V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3896					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.A3896V(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)					ACTCCAAGTGGCATTATACAC	0.433																																					p.A3896V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11687T	2						.						111.0	113.0	112.0					2																	21228053		2203	4300	6503	21081558	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.11687C>T	2.37:g.21228053G>A	ENSP00000233242:p.Ala3896Val		21081558	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	6.266	0.417196	0.11870	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.20200	2.09	5.73	2.9	0.33743	.	0.787153	0.11337	N	0.574437	T	0.10551	0.0258	N	0.19112	0.55	0.09310	N	0.999995	B	0.24823	0.112	B	0.18871	0.023	T	0.32719	-0.9896	10	0.02654	T	1	.	7.98	0.30177	0.3971:0.0:0.6029:0.0	.	3896	P04114	APOB_HUMAN	V	3896	ENSP00000233242:A3896V	ENSP00000233242:A3896V	A	-	2	0	APOB	21081558	0.018000	0.18449	0.335000	0.25508	0.502000	0.33828	1.032000	0.30178	0.729000	0.32403	0.655000	0.94253	GCC		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21230434	21230434	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:21230434G>T	ENST00000233242.1	-	26	9433	c.9306C>A	c.(9304-9306)ttC>ttA	p.F3102L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3102					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.F3102L(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)					TTCCAGCAGAGAAATTTTGGT	0.398																																					p.F3102L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9306A	2						.						102.0	104.0	103.0					2																	21230434		2203	4300	6503	21083939	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.9306C>A	2.37:g.21230434G>T	ENSP00000233242:p.Phe3102Leu		21083939	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727003	0.48833	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38240	1.15	5.87	3.09	0.35607	.	0.193825	0.36972	N	0.002303	T	0.30293	0.0760	M	0.77103	2.36	0.80722	D	1	B	0.28713	0.22	B	0.26864	0.074	T	0.13764	-1.0497	10	0.22109	T	0.4	.	1.0646	0.01608	0.3093:0.2076:0.3491:0.134	.	3102	P04114	APOB_HUMAN	L	3102	ENSP00000233242:F3102L	ENSP00000233242:F3102L	F	-	3	2	APOB	21083939	0.999000	0.42202	1.000000	0.80357	0.859000	0.49053	0.572000	0.23684	0.809000	0.34255	0.655000	0.94253	TTC		0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21235330	21235330	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:21235330A>C	ENST00000233242.1	-	26	4537	c.4410T>G	c.(4408-4410)caT>caG	p.H1470Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1470					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.H1470Q(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)					TGGAGTCCAAATGAACTGAAG	0.408																																					p.H1470Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4410G	2						.						123.0	123.0	123.0					2																	21235330		2203	4300	6503	21088835	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.4410T>G	2.37:g.21235330A>C	ENSP00000233242:p.His1470Gln		21088835	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.286230	0.23478	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00682	5.86	5.62	-10.5	0.00291	.	0.611812	0.16128	N	0.228306	T	0.00356	0.0011	N	0.17674	0.51	0.19945	N	0.999948	B	0.12013	0.005	B	0.10450	0.005	T	0.47071	-0.9145	10	0.10377	T	0.69	.	2.0698	0.03611	0.2202:0.2704:0.3328:0.1766	.	1470	P04114	APOB_HUMAN	Q	1470	ENSP00000233242:H1470Q	ENSP00000233242:H1470Q	H	-	3	2	APOB	21088835	0.000000	0.05858	0.000000	0.03702	0.394000	0.30568	-1.072000	0.03434	-1.436000	0.01970	0.533000	0.62120	CAT		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
KANSL1L	151050	broad.mit.edu	37	2	210896246	210896246	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:210896246C>A	ENST00000281772.9	-	9	2317	c.2054G>T	c.(2053-2055)aGa>aTa	p.R685I	AC007038.7_ENST00000452057.1_RNA|KANSL1L_ENST00000418791.1_Intron|RP11-260M2.1_ENST00000608095.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	685						histone acetyltransferase complex (GO:0000123)		p.R685I(1)									ATATCCATTTCTCCATTGATT	0.318																																					p.R685I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2054T	2						.						163.0	160.0	161.0					2																	210896246		2203	4299	6502	210604491	SO:0001583	missense	151050	exon9			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2054G>T	2.37:g.210896246C>A	ENSP00000281772:p.Arg685Ile		210604491	NM_152519	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879502	0.72294	.	.	ENSG00000144445	ENST00000281772	.	.	.	5.47	4.59	0.56863	.	0.353174	0.24156	N	0.041025	T	0.70290	0.3207	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.67975	-0.5531	9	0.32370	T	0.25	.	10.1087	0.42550	0.0:0.907:0.0:0.093	.	685	A0AUZ9	CB067_HUMAN	I	685	.	ENSP00000281772:R685I	R	-	2	0	C2orf67	210604491	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.868000	0.39509	1.305000	0.44909	0.557000	0.71058	AGA		0.318	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	
LANCL1	10314	broad.mit.edu	37	2	211336761	211336761	+	Missense_Mutation	SNP	G	G	A	rs116046523	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:211336761G>A	ENST00000443314.1	-	2	463	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	LANCL1_ENST00000450366.2_Missense_Mutation_p.R41W|LANCL1_ENST00000431941.2_Missense_Mutation_p.R41W|LANCL1_ENST00000233714.4_Missense_Mutation_p.R41W|AC007970.1_ENST00000416344.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.R41W			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	41					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R41W(1)		breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		AGAAGCTCCCGAATCTTATTG	0.483																																					p.R41W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C121T	2						.						146.0	135.0	139.0					2																	211336761		2203	4300	6503	211045006	SO:0001583	missense	10314	exon3			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.121C>T	2.37:g.211336761G>A	ENSP00000388713:p.Arg41Trp		211045006	NM_001136574		Missense_Mutation	SNP	ENST00000443314.1	37	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494458	0.64186	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.29	4.39	0.52855	Six-hairpin glycosidase-like (1);	0.380247	0.27460	N	0.019268	T	0.34774	0.0909	L	0.47716	1.5	0.25793	N	0.984599	D	0.55800	0.973	P	0.44359	0.447	T	0.24799	-1.0150	10	0.72032	D	0.01	.	11.5556	0.50745	0.0:0.0:0.6001:0.3999	.	41	O43813	LANC1_HUMAN	W	41	ENSP00000388713:R41W;ENSP00000393323:R41W;ENSP00000393597:R41W;ENSP00000233714:R41W;ENSP00000397646:R41W;ENSP00000396518:R41W	ENSP00000233714:R41W	R	-	1	2	LANCL1	211045006	0.759000	0.28416	0.798000	0.32154	0.637000	0.38172	0.901000	0.28445	1.159000	0.42565	0.650000	0.86243	CGG		0.483	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055	
CPS1	1373	broad.mit.edu	37	2	211460265	211460265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:211460265G>T	ENST00000233072.5	+	13	1514	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	CPS1_ENST00000430249.2_Nonsense_Mutation_p.E446*|CPS1_ENST00000451903.2_5'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	440					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.E440*(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TCAGGCTGGAGAATTTGATTA	0.368																																					p.E440X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1318T	2						.						144.0	161.0	155.0					2																	211460265		2203	4300	6503	211168510	SO:0001587	stop_gained	1373	exon13			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1318G>T	2.37:g.211460265G>T	ENSP00000233072:p.Glu440*		211168510	NM_001875	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Nonsense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	40	8.067175	0.98638	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.59	20.0755	0.97742	0.0:0.0:1.0:0.0	.	.	.	.	X	446;448;440;440	.	ENSP00000233072:E440X	E	+	1	0	CPS1	211168510	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.749000	0.94314	0.460000	0.39030	GAA		0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CPS1	1373	broad.mit.edu	37	2	211507287	211507287	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:211507287G>T	ENST00000233072.5	+	25	3235	c.3039G>T	c.(3037-3039)gtG>gtT	p.V1013V	CPS1_ENST00000430249.2_Silent_p.V1019V|CPS1_ENST00000451903.2_Silent_p.V562V|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1013					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V1013V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CGGTGGTGGTGAATTGCAATC	0.473																																					p.V562V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1686T	2						.						159.0	143.0	148.0					2																	211507287		2203	4300	6503	211215532	SO:0001819	synonymous_variant	1373	exon15			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3039G>T	2.37:g.211507287G>T			211215532	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.473	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
ERBB4	2066	broad.mit.edu	37	2	212295795	212295795	+	Missense_Mutation	SNP	C	C	T	rs369248674		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:212295795C>T	ENST00000342788.4	-	21	2828	c.2518G>A	c.(2518-2520)Gtt>Att	p.V840I	ERBB4_ENST00000402597.1_Missense_Mutation_p.V830I|ERBB4_ENST00000436443.1_Missense_Mutation_p.V840I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	840	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.V840I(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)	TCCCGATGAACGAGTCGTCTT	0.393										TSP Lung(8;0.080)																											p.V840I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2518A	2						.	C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	127.0	125.0	126.0		2518,2518	5.2	1.0	2		126	0,8600		0,0,4300	no	missense,missense	ERBB4	NM_001042599.1,NM_005235.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	840/1293,840/1309	212295795	1,13005	2203	4300	6503	212004040	SO:0001583	missense	2066	exon21			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.2518G>A	2.37:g.212295795C>T	ENSP00000342235:p.Val840Ile		212004040	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979216	0.92982	2.27E-4	0.0	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.83163	-1.69;-1.69;-1.69	5.17	5.17	0.71159	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	N	0.20304	0.555	0.80722	D	1	P;P;D;D	0.62365	0.766;0.919;0.988;0.991	B;P;B;P	0.57548	0.088;0.823;0.425;0.561	D	0.86306	0.1683	10	0.87932	D	0	.	19.0284	0.92944	0.0:1.0:0.0:0.0	.	830;830;840;840	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	I	840;840;830	ENSP00000342235:V840I;ENSP00000403204:V840I;ENSP00000385565:V830I	ENSP00000342235:V840I	V	-	1	0	ERBB4	212004040	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.743000	0.85020	2.542000	0.85734	0.655000	0.94253	GTT		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ERBB4	2066	broad.mit.edu	37	2	212483952	212483952	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:212483952T>G	ENST00000342788.4	-	19	2561	c.2251A>C	c.(2251-2253)Aag>Cag	p.K751Q	ERBB4_ENST00000402597.1_Missense_Mutation_p.K741Q|ERBB4_ENST00000436443.1_Missense_Mutation_p.K751Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	751	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.K751Q(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)	TTAAGAATCTTAATAGCCACA	0.378										TSP Lung(8;0.080)																											p.K751Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2251C	2						.						123.0	122.0	122.0					2																	212483952		2203	4300	6503	212192197	SO:0001583	missense	2066	exon19			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.2251A>C	2.37:g.212483952T>G	ENSP00000342235:p.Lys751Gln		212192197	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677324	0.88445	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.86297	-2.1;-2.1;-2.1	4.91	4.91	0.64330	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	0.95310	0.8478	H	0.95224	3.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.948;0.997;0.948;0.969	D	0.96629	0.9465	10	0.87932	D	0	.	14.4944	0.67674	0.0:0.0:0.0:1.0	.	741;741;751;751	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	Q	751;751;741	ENSP00000342235:K751Q;ENSP00000403204:K751Q;ENSP00000385565:K741Q	ENSP00000342235:K751Q	K	-	1	0	ERBB4	212192197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.637000	0.83313	1.972000	0.57404	0.533000	0.62120	AAG		0.378	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
SPAG16	79582	broad.mit.edu	37	2	214215360	214215360	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:214215360A>C	ENST00000331683.5	+	7	848	c.753A>C	c.(751-753)gtA>gtC	p.V251V	SPAG16_ENST00000447990.1_Silent_p.V251V|SPAG16_ENST00000374309.3_Silent_p.V157V|SPAG16_ENST00000414961.2_Intron|SPAG16_ENST00000413312.1_Silent_p.V220V|SPAG16_ENST00000272898.7_Silent_p.V251V	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	251					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.V251V(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)		GAGACAAAGTAGTTGGGCAGG	0.318																																					p.V251V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A753C	2						.						95.0	92.0	93.0					2																	214215360		2203	4300	6503	213923605	SO:0001819	synonymous_variant	79582	exon7			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.753A>C	2.37:g.214215360A>C			213923605	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	CCDS2396.1																																																																																				0.318	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
SPAG16	79582	broad.mit.edu	37	2	214354773	214354773	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:214354773G>A	ENST00000331683.5	+	10	1124	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K	SPAG16_ENST00000374309.3_Silent_p.K249K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	343					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.K343K(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)		TTGACTACAAGCTGAAAAACA	0.299																																					p.K343K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	2						.						62.0	68.0	66.0					2																	214354773		2202	4295	6497	214063018	SO:0001819	synonymous_variant	79582	exon10			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.1029G>A	2.37:g.214354773G>A			214063018	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	CCDS2396.1																																																																																				0.299	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
ABCA12	26154	broad.mit.edu	37	2	215868934	215868934	+	Splice_Site	SNP	G	G	T	rs552554246	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:215868934G>T	ENST00000272895.7	-	20	2901	c.2682C>A	c.(2680-2682)ctC>ctA	p.L894L	ABCA12_ENST00000389661.4_Splice_Site_p.L576L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	894					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.L894L(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)		TGGACTCACCGAGTTCATCTA	0.368																																					p.L894L	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2682A	2						.						60.0	60.0	60.0					2																	215868934		2203	4300	6503	215577179	SO:0001630	splice_region_variant	26154	exon20			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.2683+1C>A	2.37:g.215868934G>T			215577179	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Silent
ABCA12	26154	broad.mit.edu	37	2	215884286	215884286	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:215884286T>C	ENST00000272895.7	-	12	1741	c.1522A>G	c.(1522-1524)Aaa>Gaa	p.K508E	AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.K190E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	508					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.K508E(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)		AAATTAATTTTGCTTGGATCT	0.363																																					p.K508E	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1522G	2						.						62.0	65.0	64.0					2																	215884286		2203	4300	6503	215592531	SO:0001583	missense	26154	exon12			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.1522A>G	2.37:g.215884286T>C	ENSP00000272895:p.Lys508Glu		215592531	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527457	0.44969	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.46451	0.87;0.87	5.9	5.9	0.94986	.	0.374328	0.26345	N	0.024908	T	0.26882	0.0658	N	0.24115	0.695	0.80722	D	1	P;P	0.40230	0.584;0.708	B;B	0.37480	0.127;0.251	T	0.07385	-1.0775	10	0.20046	T	0.44	.	10.0175	0.42022	0.0:0.0774:0.0:0.9226	.	508;190	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	E	508;190	ENSP00000272895:K508E;ENSP00000374312:K190E	ENSP00000272895:K508E	K	-	1	0	ABCA12	215592531	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	1.778000	0.38614	2.252000	0.74401	0.519000	0.50382	AAA		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
XRCC5	7520	broad.mit.edu	37	2	216977848	216977848	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:216977848G>A	ENST00000392133.3	+	4	592	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	XRCC5_ENST00000392132.2_Missense_Mutation_p.R44Q			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	44					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.R44Q(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTGTACAGCGACAGGTAAGT	0.438								Non-homologous end-joining																													p.R44Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G131A	2						.						118.0	117.0	117.0					2																	216977848		2203	4300	6503	216686093	SO:0001583	missense	7520	exon2			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.131G>A	2.37:g.216977848G>A	ENSP00000375978:p.Arg44Gln		216686093	NM_021141	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635459	0.47049	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.32272	1.46;1.46	4.98	4.11	0.48088	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.076553	0.53938	N	0.000051	T	0.43322	0.1242	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.41610	-0.9499	10	0.06365	T	0.9	.	12.4611	0.55733	0.0806:0.0:0.9194:0.0	.	44	P13010	XRCC5_HUMAN	Q	44;44;31	ENSP00000375978:R44Q;ENSP00000375977:R44Q	ENSP00000375977:R44Q	R	+	2	0	XRCC5	216686093	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.175000	0.77632	1.336000	0.45506	0.561000	0.74099	CGA		0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141	
CTDSP1	58190	broad.mit.edu	37	2	219269033	219269033	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:219269033C>T	ENST00000273062.2	+	7	1007	c.671C>T	c.(670-672)tCg>tTg	p.S224L	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.S223L|MIR26B_ENST00000362251.2_RNA	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	224	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.S224L(1)		NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGTGGCCTCGTGGTTTGAC	0.587																																					p.S223L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C668T	2						.						145.0	121.0	129.0					2																	219269033		2203	4300	6503	218977277	SO:0001583	missense	58190	exon7			AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.671C>T	2.37:g.219269033C>T	ENSP00000273062:p.Ser224Leu		218977277	NM_182642	C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	CCDS2416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.100641|5.100641	0.94245|0.94245	.|.	.|.	ENSG00000144579|ENSG00000144579	ENST00000452977;ENST00000428361|ENST00000443891;ENST00000273062	.|T;T	.|0.18810	.|2.19;2.19	5.15|5.15	5.15|5.15	0.70609|0.70609	.|NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66157|0.66157	0.2761|0.2761	H|H	0.99058|0.99058	4.415|4.415	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.995	T|T	0.81874|0.81874	-0.0732|-0.0732	5|10	.|0.87932	.|D	.|0	-16.1099|-16.1099	17.3926|17.3926	0.87436|0.87436	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|224;223	.|Q9GZU7;C9IYG0	.|CTDS1_HUMAN;.	C|L	217;225|223;224	.|ENSP00000392248:S223L;ENSP00000273062:S224L	.|ENSP00000273062:S224L	R|S	+|+	1|2	0|0	CTDSP1|CTDSP1	218977277|218977277	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.869000|0.869000	0.49853|0.49853	7.696000|7.696000	0.84270|0.84270	2.394000|2.394000	0.81467|0.81467	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.587	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198	
USP37	57695	broad.mit.edu	37	2	219360483	219360483	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:219360483G>A	ENST00000258399.3	-	14	1884	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	USP37_ENST00000415516.1_Splice_Site_p.A419V|USP37_ENST00000454775.1_Splice_Site_p.A491V|USP37_ENST00000418019.1_Splice_Site_p.A491V	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	491	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.A491V(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CACTACTTACGCTTTACAAAT	0.348																																					p.A491V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1472T	2						.						89.0	87.0	88.0					2																	219360483		2203	4300	6503	219068727	SO:0001630	splice_region_variant	57695	exon14			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1472+1C>T	2.37:g.219360483G>A			219068727	NM_020935	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955564	0.53293	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.63	3.51	0.40186	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.448765	0.26140	N	0.026110	T	0.15132	0.0365	N	0.11818	0.18	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.07693	-1.0759	9	.	.	.	-4.8962	9.0882	0.36594	0.3268:0.0:0.6732:0.0	.	419;491	Q86T82-2;Q86T82	.;UBP37_HUMAN	V	491;491;419;491	ENSP00000258399:A491V;ENSP00000393662:A491V;ENSP00000400902:A419V;ENSP00000396585:A491V	.	A	-	2	0	USP37	219068727	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.183000	0.42565	1.397000	0.46682	0.591000	0.81541	GCA		0.348	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	Missense_Mutation
RQCD1	9125	broad.mit.edu	37	2	219452384	219452384	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:219452384G>A	ENST00000273064.6	+	5	881	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	RNU6-136P_ENST00000384663.1_RNA|RQCD1_ENST00000509807.2_Missense_Mutation_p.R201Q|RQCD1_ENST00000295701.5_Missense_Mutation_p.R169Q|RQCD1_ENST00000542068.1_Missense_Mutation_p.R169Q	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	169					cytokine-mediated signaling pathway (GO:0019221)|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)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|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)		p.R169Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTATGTTTGCGAATTATGGAA	0.333																																					p.R169Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	2						.						95.0	97.0	96.0					2																	219452384		2203	4299	6502	219160628	SO:0001583	missense	9125	exon5			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.506G>A	2.37:g.219452384G>A	ENSP00000273064:p.Arg169Gln		219160628	NM_005444	B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133277	0.94517	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	H	0.97131	3.945	0.80722	D	1	D;D;P	0.63880	0.968;0.993;0.946	P;B;B	0.49276	0.605;0.342;0.173	T	0.82808	-0.0274	10	0.72032	D	0.01	-9.7177	20.5407	0.99260	0.0:0.0:1.0:0.0	.	201;169;169	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	Q	169;201;169;169	ENSP00000273064:R169Q;ENSP00000441357:R201Q;ENSP00000443687:R169Q;ENSP00000295701:R169Q	ENSP00000273064:R169Q	R	+	2	0	RQCD1	219160628	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.756000	0.98918	2.865000	0.98341	0.655000	0.94253	CGA		0.333	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444	
ATG9A	79065	broad.mit.edu	37	2	220091635	220091635	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:220091635C>A	ENST00000409618.1	-	5	607	c.168G>T	c.(166-168)aaG>aaT	p.K56N	ATG9A_ENST00000396761.2_Missense_Mutation_p.K56N|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Missense_Mutation_p.K56N|ATG9A_ENST00000409422.1_5'UTR|ANKZF1_ENST00000409849.1_5'Flank|ATG9A_ENST00000488833.1_5'UTR|ANKZF1_ENST00000323348.5_5'Flank|ANKZF1_ENST00000410034.3_5'Flank			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	56					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)		p.K56N(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAGCCATTCTTCTGGTGCA	0.393																																					p.K56N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G168T	2						.						108.0	102.0	104.0					2																	220091635		1917	4116	6033	219799879	SO:0001583	missense	79065	exon4			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.168G>T	2.37:g.220091635C>A	ENSP00000386710:p.Lys56Asn		219799879	NM_024085	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890360	0.52014	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000436856;ENST00000457841;ENST00000428226;ENST00000432520;ENST00000439812;ENST00000443140;ENST00000434939	T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.15	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	L	0.46819	1.47	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.75977	-0.3127	10	0.22706	T	0.39	.	12.9407	0.58342	0.0:0.9192:0.0:0.0808	.	56	Q7Z3C6	ATG9A_HUMAN	N	56	ENSP00000379983:K56N;ENSP00000386710:K56N;ENSP00000355173:K56N;ENSP00000401530:K56N;ENSP00000404750:K56N;ENSP00000409164:K56N;ENSP00000406785:K56N;ENSP00000413569:K56N;ENSP00000416435:K56N;ENSP00000394345:K56N	ENSP00000355173:K56N	K	-	3	2	ATG9A	219799879	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.223000	0.51231	1.335000	0.45486	0.491000	0.48974	AAG		0.393	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	
DES	1674	broad.mit.edu	37	2	220285633	220285633	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:220285633G>A	ENST00000373960.3	+	5	1067	c.981G>A	c.(979-981)caG>caA	p.Q327Q		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	327	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.Q327Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACCGACACCAGATCCAGTCCT	0.607																																					p.Q327Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G981A	2						.						97.0	87.0	90.0					2																	220285633		2203	4300	6503	219993877	SO:0001819	synonymous_variant	1674	exon5			AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.981G>A	2.37:g.220285633G>A			219993877	NM_001927	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	CCDS33383.1																																																																																				0.607	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927	
SPEG	10290	broad.mit.edu	37	2	220329309	220329309	+	Missense_Mutation	SNP	G	G	A	rs560167789		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:220329309G>A	ENST00000312358.7	+	9	2992	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	SPEG_ENST00000396698.1_Missense_Mutation_p.E850K|SPEG_ENST00000396686.1_Missense_Mutation_p.E105K|SPEG_ENST00000396689.2_Missense_Mutation_p.E105K|SPEG_ENST00000396688.1_Missense_Mutation_p.E105K|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_Missense_Mutation_p.E162K	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	954	Ig-like 3.				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.E954K(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)		TCGGCAGTGCGAGGCCCGCTT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17503	0.0		0.0	False		,,,				2504	0.001				p.E105K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	2						.						73.0	84.0	81.0					2																	220329309		2149	4259	6408	220037553	SO:0001583	missense	10290	exon4			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.2860G>A	2.37:g.220329309G>A	ENSP00000311684:p.Glu954Lys		220037553	NM_001173476	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655924	0.88056	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.15	5.15	0.70609	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000704	T	0.71685	0.3369	L	0.37850	1.14	0.50467	D	0.999873	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.978;0.997;0.998	T	0.73603	-0.3930	10	0.56958	D	0.05	.	16.4189	0.83752	0.0:0.0:1.0:0.0	.	954;162;850	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	K	954;954;850;162;105;105;105	ENSP00000311684:E954K;ENSP00000379926:E850K;ENSP00000379923:E162K;ENSP00000379919:E105K;ENSP00000379917:E105K;ENSP00000379920:E105K	ENSP00000265327:E954K	E	+	1	0	SPEG	220037553	1.000000	0.71417	0.964000	0.40570	0.526000	0.34562	7.122000	0.77169	2.414000	0.81942	0.462000	0.41574	GAG		0.617	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	223436710	223436710	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:223436710C>A	ENST00000281828.6	-	17	1913	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	FARSB_ENST00000536361.1_Missense_Mutation_p.E451D|RP11-16P6.1_ENST00000568928.1_RNA	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	550					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.E550D(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)	TGGCAAAGATCTCTGCACATC	0.463																																					p.E550D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1650T	2						.						50.0	50.0	50.0					2																	223436710		2203	4300	6503	223144954	SO:0001583	missense	10056	exon17			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.1650G>T	2.37:g.223436710C>A	ENSP00000281828:p.Glu550Asp		223144954	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753094	0.31046	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.68	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	N	0.17901	0.54	0.58432	D	0.999999	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.18650	-1.0330	9	0.02654	T	1	-22.3687	10.5947	0.45329	0.0:0.7929:0.0:0.2071	.	550;550	A8K666;Q9NSD9	.;SYFB_HUMAN	D	550;451	.	ENSP00000281828:E550D	E	-	3	2	FARSB	223144954	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.826000	0.39092	0.756000	0.33013	0.655000	0.94253	GAG		0.463	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687	
ACSL3	2181	broad.mit.edu	37	2	223773807	223773807	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:223773807G>A	ENST00000357430.3	+	4	848	c.317G>A	c.(316-318)gGa>gAa	p.G106E	ACSL3_ENST00000392066.3_Missense_Mutation_p.G106E	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	106					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.G106E(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGACTCTTGGGAACACGTGAA	0.303			T	ETV1	prostate																																p.G106E			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317A	2						.						54.0	57.0	56.0					2																	223773807		2202	4295	6497	223482051	SO:0001583	missense	2181	exon4			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.317G>A	2.37:g.223773807G>A	ENSP00000350012:p.Gly106Glu		223482051	NM_004457	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230254	0.79688	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.55760	0.5;0.5	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.83630	0.0144	10	0.87932	D	0	-15.3416	17.8436	0.88722	0.0:0.0:1.0:0.0	.	106	O95573	ACSL3_HUMAN	E	106	ENSP00000350012:G106E;ENSP00000375918:G106E	ENSP00000350012:G106E	G	+	2	0	ACSL3	223482051	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.263000	0.95617	2.451000	0.82905	0.591000	0.81541	GGA		0.303	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
SCG2	7857	broad.mit.edu	37	2	224462354	224462354	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:224462354C>T	ENST00000305409.2	-	2	1879	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0			P -> S (in MEN1). {ECO:0000269|PubMed:10849016}.		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.E549E(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)		GATTCAAATGCTCTTTGATGG	0.502																																					p.E549E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1647A	2						.						113.0	105.0	108.0					2																	224462354		2203	4300	6503	224170598	SO:0001819	synonymous_variant	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.1647G>A	2.37:g.224462354C>T			224170598	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																				0.502	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
SCG2	7857	broad.mit.edu	37	2	224463181	224463181	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:224463181T>G	ENST00000305409.2	-	2	1052	c.820A>C	c.(820-822)Aaa>Caa	p.K274Q		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				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.K274Q(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)		TGTTCATTTTTTTCTATATTC	0.443																																					p.K274Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A820C	2						.						173.0	178.0	176.0					2																	224463181		2203	4300	6503	224171425	SO:0001583	missense	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.820A>C	2.37:g.224463181T>G	ENSP00000304133:p.Lys274Gln		224171425	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624437	0.28889	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01902	4.57	5.6	4.41	0.53225	.	0.256570	0.37715	N	0.001965	T	0.04272	0.0118	M	0.62723	1.935	0.32734	N	0.508589	B	0.19200	0.034	B	0.23018	0.043	T	0.01553	-1.1326	10	0.72032	D	0.01	.	12.6901	0.56970	0.0:0.0:0.1378:0.8622	.	274	P13521	SCG2_HUMAN	Q	274;134	ENSP00000304133:K274Q	ENSP00000304133:K274Q	K	-	1	0	SCG2	224171425	0.999000	0.42202	0.312000	0.25196	0.222000	0.24845	2.427000	0.44740	0.918000	0.36919	0.528000	0.53228	AAA		0.443	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
SERPINE2	5270	broad.mit.edu	37	2	224856687	224856687	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:224856687A>C	ENST00000258405.4	-	4	760	c.518T>G	c.(517-519)cTt>cGt	p.L173R	SERPINE2_ENST00000447280.2_Missense_Mutation_p.L185R|SERPINE2_ENST00000409304.1_Missense_Mutation_p.L173R|SERPINE2_ENST00000409840.3_Missense_Mutation_p.L173R	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	173					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L173R(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACCATCAATAAGATCTGGGGA	0.483																																					p.L185R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T554G	2						.						77.0	66.0	70.0					2																	224856687		2203	4300	6503	224564931	SO:0001583	missense	5270	exon4			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.518T>G	2.37:g.224856687A>C	ENSP00000258405:p.Leu173Arg		224564931	NM_001136530	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877229	0.51801	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;T;D;D;D	0.83992	-1.79;-0.8;-1.79;-1.79;-1.79	5.8	4.63	0.57726	Serpin domain (3);	0.666529	0.15767	N	0.245655	T	0.82019	0.4946	L	0.39085	1.19	0.24858	N	0.992364	D;P	0.53462	0.96;0.931	P;P	0.52554	0.702;0.702	T	0.73097	-0.4090	10	0.59425	D	0.04	.	10.5624	0.45152	0.6897:0.0:0.0:0.3103	.	185;173	B4DIF2;P07093	.;GDN_HUMAN	R	173;173;173;185;173	ENSP00000386412:L173R;ENSP00000258405:L173R;ENSP00000386969:L173R;ENSP00000415786:L185R;ENSP00000408452:L173R	ENSP00000258405:L173R	L	-	2	0	SERPINE2	224564931	0.988000	0.35896	0.004000	0.12327	0.938000	0.57974	2.947000	0.49058	1.000000	0.39049	0.528000	0.53228	CTT		0.483	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216	
DOCK10	55619	broad.mit.edu	37	2	225639731	225639731	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:225639731G>A	ENST00000258390.7	-	52	5971	c.5904C>T	c.(5902-5904)ttC>ttT	p.F1968F	DOCK10_ENST00000409592.3_Silent_p.F1962F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1968	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.F1966F(1)|p.F475F(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)		GGTGCATTTCGAAATCTGTCT	0.532																																					p.F1968F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5904T	2						.						89.0	92.0	91.0					2																	225639731		2046	4211	6257	225347975	SO:0001819	synonymous_variant	55619	exon52			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.5904C>T	2.37:g.225639731G>A			225347975	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	8.951	0.968254	0.18659	.	.	ENSG00000135905	ENST00000535663	.	.	.	5.48	-4.21	0.03812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4951	0.55923	0.5342:0.0:0.4658:0.0	.	.	.	.	X	118	.	.	R	-	1	2	DOCK10	225347975	0.014000	0.17966	0.956000	0.39512	0.840000	0.47671	-0.558000	0.05978	-0.804000	0.04410	-1.008000	0.02478	CGA		0.532	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
DOCK10	55619	broad.mit.edu	37	2	225659600	225659600	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:225659600G>A	ENST00000258390.7	-	45	5217	c.5150C>T	c.(5149-5151)tCt>tTt	p.S1717F	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1711F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1717	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.S255F(1)|p.S1715F(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)		AATCACCTCAGATAAATCTCC	0.453																																					p.S1717F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5150T	2						.						107.0	109.0	108.0					2																	225659600		1961	4148	6109	225367844	SO:0001583	missense	55619	exon45			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.5150C>T	2.37:g.225659600G>A	ENSP00000258390:p.Ser1717Phe		225367844	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455455	0.63401	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.21191	3.43;2.02	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	M	0.77406	2.37	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.983;0.998;0.999;0.983	T	0.53070	-0.8490	10	0.87932	D	0	.	19.7791	0.96410	0.0:0.0:1.0:0.0	.	1717;571;1711;379	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	F	1711;1717;255	ENSP00000386694:S1711F;ENSP00000258390:S1717F	ENSP00000258390:S1717F	S	-	2	0	DOCK10	225367844	1.000000	0.71417	0.990000	0.47175	0.188000	0.23474	9.476000	0.97823	2.683000	0.91414	0.557000	0.71058	TCT		0.453	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
COL4A4	1286	broad.mit.edu	37	2	227958930	227958930	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:227958930C>A	ENST00000396625.3	-	20	1487	c.1280G>T	c.(1279-1281)aGa>aTa	p.R427I	COL4A4_ENST00000329662.7_Missense_Mutation_p.R427I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	427	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R427I(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGAATCAGGTCTCCCAGGAAT	0.542																																					p.R427I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1280T	2						.						40.0	41.0	41.0					2																	227958930		1845	4085	5930	227667174	SO:0001583	missense	1286	exon20				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1280G>T	2.37:g.227958930C>A	ENSP00000379866:p.Arg427Ile		227667174	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891756	0.33442	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93488	-3.23;-3.23	5.31	3.5	0.40072	.	.	.	.	.	D	0.84433	0.5471	N	0.11341	0.13	0.20196	N	0.999922	P	0.40970	0.734	B	0.41571	0.36	T	0.75921	-0.3147	9	0.35671	T	0.21	.	4.2829	0.10841	0.1822:0.6316:0.0:0.1862	.	427	P53420	CO4A4_HUMAN	I	427	ENSP00000379866:R427I;ENSP00000328553:R427I	ENSP00000328553:R427I	R	-	2	0	COL4A4	227667174	0.042000	0.20092	0.495000	0.27527	0.836000	0.47400	0.078000	0.14761	1.226000	0.43582	0.563000	0.77884	AGA		0.542	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
COL4A3	1285	broad.mit.edu	37	2	228109670	228109670	+	Missense_Mutation	SNP	A	A	G	rs201222896		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:228109670A>G	ENST00000396578.3	+	5	445	c.283A>G	c.(283-285)Ata>Gta	p.I95V	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	95	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.I95V(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCTTCAGGGAATAAGTGGATT	0.318																																					p.I95V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A283G	2						.						90.0	92.0	91.0					2																	228109670		1787	4059	5846	227817914	SO:0001583	missense	1285	exon5				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.283A>G	2.37:g.228109670A>G	ENSP00000379823:p.Ile95Val		227817914	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	2.799	-0.249568	0.05867	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93189	-3.18	5.83	-0.99	0.10238	.	0.656302	0.14767	N	0.299678	D	0.86510	0.5950	L	0.31420	0.93	0.26237	N	0.978932	B;B;B;B	0.30236	0.234;0.119;0.274;0.145	B;B;B;B	0.37833	0.14;0.067;0.259;0.219	T	0.75861	-0.3168	10	0.29301	T	0.29	.	3.0593	0.06195	0.4553:0.0:0.258:0.2867	.	95;95;95;95	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	V	95	ENSP00000379823:I95V	ENSP00000323334:I95V	I	+	1	0	COL4A3	227817914	0.997000	0.39634	0.985000	0.45067	0.828000	0.46876	0.374000	0.20501	-0.393000	0.07739	-1.140000	0.01884	ATA		0.318	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	
AGFG1	3267	broad.mit.edu	37	2	228389531	228389531	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:228389531C>T	ENST00000310078.8	+	5	854	c.594C>T	c.(592-594)gaC>gaT	p.D198D	AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409979.2_Silent_p.D198D|AGFG1_ENST00000373671.3_Silent_p.D198D|AGFG1_ENST00000409171.1_Silent_p.D198D|AGFG1_ENST00000409315.1_Silent_p.D198D	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	198					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.D198D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AGCAATTTGACCTTTTAAGTG	0.443																																					p.D198D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594T	2						.						176.0	159.0	165.0					2																	228389531		2203	4300	6503	228097775	SO:0001819	synonymous_variant	3267	exon5				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.594C>T	2.37:g.228389531C>T			228097775	NM_004504	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Silent	SNP	ENST00000310078.8	37	CCDS2467.1																																																																																				0.443	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504	
SPHKAP	80309	broad.mit.edu	37	2	228881601	228881601	+	Silent	SNP	G	G	T	rs368196323		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:228881601G>T	ENST00000392056.3	-	7	4015	c.3969C>A	c.(3967-3969)atC>atA	p.I1323I	SPHKAP_ENST00000344657.5_Silent_p.I1323I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1323						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.I1323I(1)		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)		CATCCACAATGATTTTGTTCT	0.493																																					p.I1323I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3969A	2						.	G	,	0,4406		0,0,2203	111.0	98.0	102.0		3969,3969	-2.5	0.1	2		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPHKAP	NM_001142644.1,NM_030623.3	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	1323/1701,1323/1672	228881601	1,13005	2203	4300	6503	228589845	SO:0001819	synonymous_variant	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.3969C>A	2.37:g.228881601G>T			228589845	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.493	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228882181	228882181	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:228882181G>A	ENST00000392056.3	-	7	3435	c.3389C>T	c.(3388-3390)tCc>tTc	p.S1130F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1130F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1130						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S1130F(1)		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)		CATGAACCTGGAAAACTCATC	0.532																																					p.S1130F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3389T	2						.						47.0	39.0	42.0					2																	228882181		2203	4300	6503	228590425	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.3389C>T	2.37:g.228882181G>A	ENSP00000375909:p.Ser1130Phe		228590425	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180735	0.78677	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.44482	0.92;0.92	5.57	5.57	0.84162	.	0.048586	0.85682	D	0.000000	T	0.56046	0.1959	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;P;D	0.73380	0.936;0.871;0.98	T	0.57418	-0.7815	10	0.87932	D	0	-10.7376	18.8971	0.92427	0.0:0.0:1.0:0.0	.	161;1130;1130	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	F	1130	ENSP00000375909:S1130F;ENSP00000339886:S1130F	ENSP00000339886:S1130F	S	-	2	0	SPHKAP	228590425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.041000	0.93788	2.785000	0.95823	0.655000	0.94253	TCC		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228884248	228884248	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:228884248G>T	ENST00000392056.3	-	7	1368	c.1322C>A	c.(1321-1323)tCt>tAt	p.S441Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S441Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	441						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S441Y(1)		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)		CCATGACCGAGAAACCACTGT	0.502																																					p.S441Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1322A	2						.						107.0	105.0	106.0					2																	228884248		2203	4300	6503	228592492	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.1322C>A	2.37:g.228884248G>T	ENSP00000375909:p.Ser441Tyr		228592492	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772506	0.69992	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.6	6.03	6.03	0.97812	.	0.335174	0.37053	N	0.002269	T	0.27524	0.0676	L	0.38175	1.15	0.45930	D	0.99876	P;D	0.61080	0.956;0.989	P;P	0.59643	0.459;0.861	T	0.00093	-1.2081	10	0.62326	D	0.03	.	19.545	0.95291	0.0:0.0:1.0:0.0	.	441;441	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	441	ENSP00000375909:S441Y;ENSP00000339886:S441Y	ENSP00000339886:S441Y	S	-	2	0	SPHKAP	228592492	1.000000	0.71417	0.126000	0.21872	0.400000	0.30750	8.825000	0.92029	2.861000	0.98227	0.655000	0.94253	TCT		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228890220	228890220	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:228890220G>T	ENST00000392056.3	-	5	377	c.331C>A	c.(331-333)Ctt>Att	p.L111I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L111I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	111						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.L111I(1)		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)		AGTTTTGGAAGATCTGGTGAA	0.363																																					p.L111I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C331A	2						.						114.0	110.0	111.0					2																	228890220		2203	4300	6503	228598464	SO:0001583	missense	80309	exon5				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.331C>A	2.37:g.228890220G>T	ENSP00000375909:p.Leu111Ile		228598464	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105793	0.77096	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.33865	1.39;1.42	6.17	6.17	0.99709	.	0.060622	0.64402	D	0.000002	T	0.44993	0.1320	N	0.19112	0.55	0.41383	D	0.987564	D;D	0.76494	0.991;0.999	P;D	0.74674	0.634;0.984	T	0.36866	-0.9730	10	0.51188	T	0.08	.	14.6754	0.68975	0.0:0.0:0.8551:0.1449	.	111;111	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	111	ENSP00000375909:L111I;ENSP00000339886:L111I	ENSP00000339886:L111I	L	-	1	0	SPHKAP	228598464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.574000	0.74014	2.941000	0.99782	0.655000	0.94253	CTT		0.363	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
TRIP12	9320	broad.mit.edu	37	2	230632460	230632460	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:230632460C>T	ENST00000283943.5	-	41	5967	c.5789G>A	c.(5788-5790)cGg>cAg	p.R1930Q	TRIP12_ENST00000389045.3_Missense_Mutation_p.R1660Q|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1978Q	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1930	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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.R1930Q(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)		ATTCAAACTCCGGAATCCTGA	0.368																																					p.R1930Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5789A	2						.						75.0	77.0	76.0					2																	230632460		2203	4300	6503	230340704	SO:0001583	missense	9320	exon41			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.5789G>A	2.37:g.230632460C>T	ENSP00000283943:p.Arg1930Gln		230340704	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278982	0.80692	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.56611	0.45;0.45;0.45	5.66	4.77	0.60923	HECT (4);	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.39566	1.225	0.80722	D	1	B;B;B	0.19331	0.035;0.035;0.035	B;B;B	0.15870	0.014;0.014;0.014	T	0.43669	-0.9377	10	0.62326	D	0.03	.	15.0014	0.71476	0.0:0.9306:0.0:0.0694	.	1660;1978;1930	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	Q	1930;1660;1978	ENSP00000283943:R1930Q;ENSP00000373697:R1660Q;ENSP00000373696:R1978Q	ENSP00000283943:R1930Q	R	-	2	0	TRIP12	230340704	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.745000	0.68672	2.685000	0.91497	0.455000	0.32223	CGG		0.368	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
SP140	11262	broad.mit.edu	37	2	231175930	231175930	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:231175930T>G	ENST00000392045.3	+	25	2459	c.2345T>G	c.(2344-2346)aTt>aGt	p.I782S	SP140_ENST00000486687.2_Missense_Mutation_p.I706S|SP140_ENST00000417495.3_Missense_Mutation_p.I668S|SP140_ENST00000343805.6_Missense_Mutation_p.I722S|SP140_ENST00000350136.5_Missense_Mutation_p.I651S|SP140_ENST00000420434.3_Missense_Mutation_p.I755S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	782					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.I782S(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)		TTTGCCAAGATTCCATACTAT	0.418																																					p.I782S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2345G	2						.						54.0	45.0	48.0					2																	231175930		1784	4029	5813	230884174	SO:0001583	missense	11262	exon25			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.2345T>G	2.37:g.231175930T>G	ENSP00000375899:p.Ile782Ser		230884174	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040783	0.35989	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	2.9	2.9	0.33743	Bromodomain (3);	.	.	.	.	T	0.54759	0.1878	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.89917	0.997;0.999;0.999;1.0	D;P;D;D	0.72982	0.967;0.829;0.917;0.979	T	0.33007	-0.9885	9	0.38643	T	0.18	-2.1844	7.6259	0.28212	0.0:0.0:0.0:1.0	.	755;668;722;782	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	706;651;782;668;722;755	ENSP00000440107:I706S;ENSP00000345846:I651S;ENSP00000375899:I782S;ENSP00000342096:I722S;ENSP00000398210:I755S	ENSP00000342096:I722S	I	+	2	0	SP140	230884174	0.006000	0.16342	0.155000	0.22561	0.978000	0.69477	0.093000	0.15086	1.574000	0.49760	0.460000	0.39030	ATT		0.418	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
B3GNT7	93010	broad.mit.edu	37	2	232262581	232262581	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:232262581C>T	ENST00000287590.5	+	2	412	c.151C>T	c.(151-153)Cca>Tca	p.P51S	B3GNT7_ENST00000479618.1_3'UTR|AC017104.6_ENST00000415129.1_RNA	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	51					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.P51S(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCCCAGAAGCCAAATGGACA	0.637																																					p.P51S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C151T	2						.						37.0	45.0	42.0					2																	232262581		2005	4168	6173	231970825	SO:0001583	missense	93010	exon2			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.151C>T	2.37:g.232262581C>T	ENSP00000287590:p.Pro51Ser		231970825	NM_145236	B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	0.056	-1.235838	0.01505	.	.	ENSG00000156966	ENST00000287590	T	0.32023	1.47	4.88	2.99	0.34606	.	2.031530	0.02355	N	0.076337	T	0.17577	0.0422	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24368	-1.0162	10	0.07990	T	0.79	.	6.5516	0.22438	0.2973:0.6124:0.0:0.0904	.	51	Q8NFL0	B3GN7_HUMAN	S	51	ENSP00000287590:P51S	ENSP00000287590:P51S	P	+	1	0	B3GNT7	231970825	0.008000	0.16893	0.023000	0.16930	0.006000	0.05464	0.387000	0.20718	1.046000	0.40249	0.313000	0.20887	CCA		0.637	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236	
NMUR1	10316	broad.mit.edu	37	2	232393538	232393538	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:232393538G>T	ENST00000305141.4	-	2	327	c.194C>A	c.(193-195)gCc>gAc	p.A65D		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	65					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.A65D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGGTATGTGGCACAGATGGG	0.592																																					p.A65D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C194A	2						.						78.0	61.0	66.0					2																	232393538		2203	4300	6503	232101782	SO:0001583	missense	10316	exon2			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.194C>A	2.37:g.232393538G>T	ENSP00000305877:p.Ala65Asp		232101782	NM_006056	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	g	7.006	0.555745	0.13436	.	.	ENSG00000171596	ENST00000305141	T	0.39229	1.09	5.21	-4.63	0.03359	.	0.932999	0.09147	N	0.842195	T	0.27278	0.0669	N	0.14661	0.345	0.09310	N	1	B	0.25850	0.136	B	0.29716	0.106	T	0.32214	-0.9915	10	0.87932	D	0	-11.161	13.5584	0.61773	0.639:0.0:0.361:0.0	.	65	Q9HB89	NMUR1_HUMAN	D	65	ENSP00000305877:A65D	ENSP00000305877:A65D	A	-	2	0	NMUR1	232101782	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.120000	0.15647	-1.193000	0.02688	-1.142000	0.01873	GCC		0.592	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056	
PDE6D	5147	broad.mit.edu	37	2	232602765	232602765	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:232602765G>A	ENST00000287600.4	-	3	417	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	PDE6D_ENST00000409772.1_Missense_Mutation_p.R75C	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	75					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)	p.R75C(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		TGTTCCAGGCGGAATTTTTCC	0.443																																					p.R75C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C223T	2						.						143.0	132.0	136.0					2																	232602765		2203	4300	6503	232311009	SO:0001583	missense	5147	exon3			AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"""Phosphodiesterases"""	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.223C>T	2.37:g.232602765G>A	ENSP00000287600:p.Arg75Cys		232311009	NM_002601	O43250	Missense_Mutation	SNP	ENST00000287600.4	37	CCDS33398.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144284	0.57044	.	.	ENSG00000156973	ENST00000287600;ENST00000409772;ENST00000428104	.	.	.	5.65	5.65	0.86999	Immunoglobulin E-set (1);	0.047608	0.85682	D	0.000000	T	0.63698	0.2533	M	0.85462	2.755	0.80722	D	1	B;P	0.48694	0.445;0.914	B;B	0.41619	0.09;0.361	T	0.71968	-0.4432	9	0.62326	D	0.03	-3.6776	14.5602	0.68130	0.0:0.0:0.8538:0.1462	.	75;75	B8ZZK5;O43924	.;PDE6D_HUMAN	C	75;75;56	.	ENSP00000287600:R75C	R	-	1	0	PDE6D	232311009	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.826000	0.55738	2.660000	0.90430	0.467000	0.42956	CGC		0.443	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332407.1		
GIGYF2	26058	broad.mit.edu	37	2	233613721	233613721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:233613721G>T	ENST00000409547.1	+	7	507	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E66*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E66*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.E66*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E66*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E66*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	66					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E66*(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCTGGATAAAGAATTTCTGCC	0.413																																					p.E66X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G196T	2						.						174.0	183.0	180.0					2																	233613721		2203	4300	6503	233321965	SO:0001587	stop_gained	26058	exon4			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.196G>T	2.37:g.233613721G>T	ENSP00000386537:p.Glu66*		233321965	NM_001103148	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760608	0.89932	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000428883;ENST00000409480;ENST00000421433;ENST00000425040;ENST00000430720;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000429187;ENST00000440945	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.5233	20.2617	0.98447	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000362664:E66X	E	+	1	0	GIGYF2	233321965	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	9.808000	0.99193	2.793000	0.96121	0.655000	0.94253	GAA		0.413	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
GIGYF2	26058	broad.mit.edu	37	2	233708895	233708895	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:233708895C>T	ENST00000409547.1	+	26	3340	c.3029C>T	c.(3028-3030)gCc>gTc	p.A1010V	GIGYF2_ENST00000452341.2_Silent_p.G852G|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A1031V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A1032V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.A1032V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A1004V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A1010V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1010	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A1010V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAGGAAGAGGCCAGGCAAATG	0.507																																					p.A1004V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3011T	2						.						40.0	33.0	35.0					2																	233708895		2189	4285	6474	233417139	SO:0001583	missense	26058	exon23			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3029C>T	2.37:g.233708895C>T	ENSP00000386537:p.Ala1010Val		233417139	NM_001103148	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978261	0.74360	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000426102	T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.1	5.18	4.2	0.49525	.	0.048538	0.85682	N	0.000000	T	0.72179	0.3428	M	0.66939	2.045	0.80722	D	1	B;B;B	0.25390	0.125;0.125;0.125	B;B;B	0.23716	0.048;0.028;0.028	T	0.70741	-0.4789	10	0.59425	D	0.04	-1.9447	13.2719	0.60165	0.0:0.9178:0.0:0.0822	.	1031;1010;1004	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	V	1032;1010;1032;1010;1004;1031;39	ENSP00000362667:A1032V;ENSP00000362664:A1010V;ENSP00000386765:A1032V;ENSP00000386537:A1010V;ENSP00000387070:A1004V;ENSP00000387170:A1031V;ENSP00000415037:A39V	ENSP00000362664:A1010V	A	+	2	0	GIGYF2	233417139	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.877000	0.63086	1.020000	0.39573	0.462000	0.41574	GCC		0.507	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
USP40	55230	broad.mit.edu	37	2	234429692	234429692	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:234429692A>G	ENST00000427112.2	-	16	2302	c.2267T>C	c.(2266-2268)tTa>tCa	p.L756S	USP40_ENST00000450966.1_Missense_Mutation_p.L768S|USP40_ENST00000251722.6_Missense_Mutation_p.L756S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	756					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.L768S(1)		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)		TAACTGGCATAAATTTTTAAC	0.333																																					p.Y688H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2062C	2						.						110.0	101.0	104.0					2																	234429692		1816	4065	5881	234094431	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.2267T>C	2.37:g.234429692A>G	ENSP00000387898:p.Leu756Ser		234094431	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649902	0.47362	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.43	5.43	0.79202	.	4.430020	0.00166	N	0.000011	T	0.56572	0.1994	L	0.56769	1.78	0.09310	N	1	P;P	0.44195	0.736;0.828	B;B	0.39531	0.287;0.302	T	0.52548	-0.8561	10	0.41790	T	0.15	.	13.0276	0.58825	1.0:0.0:0.0:0.0	.	756;768	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	S	768;756;756;51	ENSP00000415434:L768S;ENSP00000251722:L756S;ENSP00000387898:L756S;ENSP00000408853:L51S	ENSP00000251722:L756S	L	-	2	0	USP40	234094431	0.890000	0.30428	0.801000	0.32222	0.863000	0.49368	3.700000	0.54786	2.066000	0.61787	0.477000	0.44152	TTA		0.333	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	234460072	234460072	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:234460072T>G	ENST00000427112.2	-	6	822	c.787A>C	c.(787-789)Agc>Cgc	p.S263R	USP40_ENST00000450966.1_Missense_Mutation_p.S275R|USP40_ENST00000251722.6_Missense_Mutation_p.S263R			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	263	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.S275R(1)		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)		GTATAACAGCTAGTTTCCTTG	0.348																																					p.L194L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A582C	2						.						65.0	62.0	63.0					2																	234460072		1821	4076	5897	234124811	SO:0001583	missense	55230	exon5			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.787A>C	2.37:g.234460072T>G	ENSP00000387898:p.Ser263Arg		234124811	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568612	0.45798	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000435959	T;T;T	0.30182	1.54;1.54;1.54	5.62	2.92	0.33932	.	0.545239	0.22687	N	0.056861	T	0.27832	0.0685	L	0.58354	1.805	0.41193	D	0.986318	B	0.27910	0.193	B	0.31290	0.127	T	0.08472	-1.0720	10	0.42905	T	0.14	.	5.9003	0.18962	0.1273:0.1536:0.0:0.7191	.	275	Q9NVE5-3	.	R	275;263;263;263	ENSP00000415434:S275R;ENSP00000251722:S263R;ENSP00000387898:S263R	ENSP00000251722:S263R	S	-	1	0	USP40	234124811	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	2.389000	0.44407	0.970000	0.38263	0.482000	0.46254	AGC		0.348	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
UGT1A9	54600	broad.mit.edu	37	2	234581341	234581341	+	Missense_Mutation	SNP	G	G	A	rs375970481		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:234581341G>A	ENST00000354728.4	+	1	843	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.R254Q|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	254					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|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)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R254Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGGTTGTTGCGAACGGACTTT	0.443																																					p.R254Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G761A	2						.	G	,,GLN/ARG	0,4406		0,0,2203	241.0	233.0	236.0		,,761	3.3	0.2	2		236	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	UGT1A10,UGT1A8,UGT1A9	NM_019075.2,NM_019076.4,NM_021027.2	,,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,254/531	234581341	1,13005	2203	4300	6503	234246080	SO:0001583	missense	54600	exon1			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.761G>A	2.37:g.234581341G>A	ENSP00000346768:p.Arg254Gln		234246080	NM_021027	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723898	0.48728	0.0	1.16E-4	ENSG00000241119	ENST00000354728	T	0.62105	0.05	3.26	3.26	0.37387	.	.	.	.	.	T	0.78805	0.4341	M	0.78049	2.395	0.28605	N	0.908962	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.72849	-0.4168	9	0.62326	D	0.03	.	14.9929	0.71401	0.0:0.0:1.0:0.0	.	254;254	Q5DSZ5;O60656	.;UD19_HUMAN	Q	254	ENSP00000346768:R254Q	ENSP00000346768:R254Q	R	+	2	0	UGT1A9	234246080	0.103000	0.21917	0.180000	0.23079	0.132000	0.20833	2.591000	0.46163	1.801000	0.52704	0.446000	0.29264	CGA		0.443	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
IQCA1	79781	broad.mit.edu	37	2	237272595	237272595	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:237272595G>T	ENST00000409907.3	-	15	1971	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	IQCA1_ENST00000309507.5_Missense_Mutation_p.P563H|IQCA1_ENST00000431676.2_Missense_Mutation_p.P525H	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	566							ATP binding (GO:0005524)	p.P566H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTCACCAAAGGAGCTTTCTC	0.488																																					p.P566H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1697A	2						.						95.0	92.0	93.0					2																	237272595		1935	4125	6060	236937334	SO:0001583	missense	79781	exon15			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1697C>A	2.37:g.237272595G>T	ENSP00000387347:p.Pro566His		236937334	NM_024726	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939467	0.52972	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.90900	-2.75;-2.75;-2.75	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000008	D	0.95771	0.8624	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.996	D	0.96589	0.9436	10	0.87932	D	0	.	17.8107	0.88614	0.0:0.0:1.0:0.0	.	525;574;566	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	H	566;574;563;525;563	ENSP00000387347:P566H;ENSP00000311951:P563H;ENSP00000407213:P525H	ENSP00000254653:P567H	P	-	2	0	IQCA1	236937334	1.000000	0.71417	0.407000	0.26434	0.037000	0.13140	9.611000	0.98342	2.201000	0.70794	0.561000	0.74099	CCT		0.488	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
ACKR3	57007	broad.mit.edu	37	2	237489873	237489873	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:237489873C>A	ENST00000272928.3	+	2	1075	c.765C>A	c.(763-765)ttC>ttA	p.F255L		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	255					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.F255L(1)									AGATCATCTTCTCCTACGTGG	0.582																																					p.F255L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C765A	2						.						136.0	114.0	122.0					2																	237489873		2203	4300	6503	237154612	SO:0001583	missense	57007	exon2			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.765C>A	2.37:g.237489873C>A	ENSP00000272928:p.Phe255Leu		237154612	NM_020311	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531672	0.27387	.	.	ENSG00000144476	ENST00000272928	T	0.34275	1.37	5.8	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.188201	0.47093	N	0.000254	T	0.15782	0.0380	N	0.05199	-0.095	0.41952	D	0.990666	B	0.02656	0.0	B	0.06405	0.002	T	0.07947	-1.0746	9	.	.	.	.	8.6543	0.34053	0.0:0.6503:0.0:0.3497	.	255	P25106	CXCR7_HUMAN	L	255	ENSP00000272928:F255L	.	F	+	3	2	CXCR7	237154612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.722000	0.25925	0.384000	0.24942	0.655000	0.94253	TTC		0.582	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311	
COL6A3	1293	broad.mit.edu	37	2	238275922	238275922	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:238275922C>A	ENST00000295550.4	-	11	5360	c.4908G>T	c.(4906-4908)aaG>aaT	p.K1636N	COL6A3_ENST00000347401.3_Missense_Mutation_p.K1435N|COL6A3_ENST00000472056.1_Missense_Mutation_p.K1029N|COL6A3_ENST00000346358.4_Missense_Mutation_p.K1436N|COL6A3_ENST00000353578.4_Missense_Mutation_p.K1430N|COL6A3_ENST00000409809.1_Missense_Mutation_p.K1430N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1636	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.K1636N(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)		TGTCTGCTTTCTTCTTCTCTA	0.368																																					p.K1029N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3087T	2						.						55.0	51.0	52.0					2																	238275922		2203	4300	6503	237940661	SO:0001583	missense	1293	exon8			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.4908G>T	2.37:g.238275922C>A	ENSP00000295550:p.Lys1636Asn		237940661	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414843	0.42817	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000022	T	0.80859	0.4704	L	0.31845	0.965	0.49130	D	0.999756	D;D;P	0.89917	1.0;1.0;0.931	D;D;P	0.91635	0.997;0.999;0.522	T	0.77710	-0.2486	10	0.28530	T	0.3	.	12.7021	0.57038	0.0:0.9245:0.0:0.0755	.	1029;1430;1636	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	1636;1435;1430;1029;1430;1436	ENSP00000295550:K1636N;ENSP00000315609:K1435N;ENSP00000315873:K1430N;ENSP00000418285:K1029N;ENSP00000386844:K1430N;ENSP00000295546:K1436N	ENSP00000295550:K1636N	K	-	3	2	COL6A3	237940661	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.370000	0.34238	2.573000	0.86826	0.655000	0.94253	AAG		0.368	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238277782	238277782	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:238277782C>T	ENST00000295550.4	-	10	4776	c.4324G>A	c.(4324-4326)Gac>Aac	p.D1442N	COL6A3_ENST00000347401.3_Missense_Mutation_p.D1241N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D835N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1242N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1236N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1236N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1442	Nonhelical region.|VWFA 8. {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.D1442N(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)		TCAGAGCTGTCGATCAGAAAG	0.463																																					p.D835N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2503A	2						.						55.0	52.0	53.0					2																	238277782		2203	4300	6503	237942521	SO:0001583	missense	1293	exon7			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.4324G>A	2.37:g.238277782C>T	ENSP00000295550:p.Asp1442Asn		237942521	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687033	0.48097	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64;-4.64	5.29	5.29	0.74685	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000025	D	0.99312	0.9759	H	0.98027	4.13	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	D	0.98597	1.0657	10	0.87932	D	0	.	18.9617	0.92679	0.0:1.0:0.0:0.0	.	835;1236;1442	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	1442;1241;1236;835;1236;1242	ENSP00000295550:D1442N;ENSP00000315609:D1241N;ENSP00000315873:D1236N;ENSP00000418285:D835N;ENSP00000386844:D1236N;ENSP00000295546:D1242N	ENSP00000295550:D1442N	D	-	1	0	COL6A3	237942521	1.000000	0.71417	0.561000	0.28357	0.019000	0.09904	7.755000	0.85180	2.483000	0.83821	0.650000	0.86243	GAC		0.463	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238285557	238285557	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:238285557C>A	ENST00000295550.4	-	7	3380	c.2928G>T	c.(2926-2928)aaG>aaT	p.K976N	COL6A3_ENST00000347401.3_Missense_Mutation_p.K775N|COL6A3_ENST00000472056.1_Missense_Mutation_p.K369N|COL6A3_ENST00000346358.4_Missense_Mutation_p.K776N|COL6A3_ENST00000353578.4_Missense_Mutation_p.K770N|COL6A3_ENST00000392003.2_Missense_Mutation_p.K569N|COL6A3_ENST00000409809.1_Missense_Mutation_p.K770N|COL6A3_ENST00000392004.3_Missense_Mutation_p.K770N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	976	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.K976N(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)		GGTCTGCGTTCTTGGCTTGGA	0.542																																					p.K369N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1107T	2						.						203.0	175.0	185.0					2																	238285557		2203	4300	6503	237950296	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.2928G>T	2.37:g.238285557C>A	ENSP00000295550:p.Lys976Asn		237950296	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641675	0.67244	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.55	3.64	0.41730	von Willebrand factor, type A (3);	0.372428	0.20019	N	0.100960	T	0.51719	0.1691	M	0.72894	2.215	0.37629	D	0.921597	P;D;D;P;D;P	0.67145	0.942;0.996;0.988;0.868;0.992;0.901	P;D;D;P;D;P	0.70935	0.658;0.971;0.948;0.88;0.951;0.562	T	0.53865	-0.8378	10	0.25751	T	0.34	.	7.8309	0.29342	0.0:0.7055:0.1363:0.1582	.	776;369;569;770;770;976	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	N	976;775;770;369;770;776;770;569	ENSP00000295550:K976N;ENSP00000315609:K775N;ENSP00000315873:K770N;ENSP00000418285:K369N;ENSP00000386844:K770N;ENSP00000295546:K776N;ENSP00000375861:K770N;ENSP00000375860:K569N	ENSP00000295550:K976N	K	-	3	2	COL6A3	237950296	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.073000	0.41519	1.348000	0.45733	0.655000	0.94253	AAG		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
PRLH	51052	broad.mit.edu	37	2	238475294	238475294	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:238475294T>C	ENST00000165524.1	+	1	78	c.78T>C	c.(76-78)caT>caC	p.H26H		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	26					autonomic nervous system development (GO:0048483)|energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.H26H(1)		endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		GTCGTACCCATCGGCACTCCA	0.662																																					p.H26H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T78C	2						.						48.0	38.0	42.0					2																	238475294		2196	4293	6489	238140033	SO:0001819	synonymous_variant	51052	exon1			AB015419	CCDS2519.1	2q37.3	2013-02-28			ENSG00000071677	ENSG00000071677		"""Endogenous ligands"""	17945	protein-coding gene	gene with protein product		602663				9607765	Standard	NM_015893		Approved	PRH	uc010znl.2	P81277	OTTHUMG00000133296	ENST00000165524.1:c.78T>C	2.37:g.238475294T>C			238140033	NM_015893		Silent	SNP	ENST00000165524.1	37	CCDS2519.1																																																																																				0.662	PRLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257081.1	NM_015893	
RBM44	375316	broad.mit.edu	37	2	238727117	238727117	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:238727117G>T	ENST00000409864.1	+	3	1812	c.1558G>T	c.(1558-1560)Gct>Tct	p.A520S	RBM44_ENST00000316997.4_Missense_Mutation_p.A520S|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	519						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.A520S(1)		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)		AAAAAGTGTGGCTTGTAGTAC	0.363																																					p.A520S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1558T	2						.						50.0	47.0	48.0					2																	238727117		1857	4112	5969	238391856	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.1558G>T	2.37:g.238727117G>T	ENSP00000386727:p.Ala520Ser		238391856	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721484	0.68959	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.36157	1.27;1.27	5.86	5.86	0.93980	.	0.182538	0.38959	N	0.001513	T	0.55513	0.1925	M	0.71581	2.175	0.40685	D	0.982347	D	0.69078	0.997	P	0.57283	0.817	T	0.58047	-0.7705	10	0.62326	D	0.03	-13.6903	16.9051	0.86124	0.0:0.0:1.0:0.0	.	519	Q6ZP01	RBM44_HUMAN	S	520	ENSP00000321179:A520S;ENSP00000386727:A520S	ENSP00000321179:A520S	A	+	1	0	RBM44	238391856	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	3.038000	0.49783	2.777000	0.95525	0.591000	0.81541	GCT		0.363	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
SCLY	51540	broad.mit.edu	37	2	238976752	238976752	+	Silent	SNP	G	G	A	rs200336071		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:238976752G>A	ENST00000555827.1	+	3	313	c.249G>A	c.(247-249)gcG>gcA	p.A83A	SCLY_ENST00000429612.2_Silent_p.A83A|UBE2F-SCLY_ENST00000449191.1_3'UTR|SCLY_ENST00000254663.6_Silent_p.A91A|SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000409736.2_Silent_p.A83A|SCLY_ENST00000422984.2_Intron|SCLY_ENST00000480859.1_3'UTR			Q96I15	SCLY_HUMAN	selenocysteine lyase	83					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.A83A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		AAAGCCTCGCGAAGATGATAG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18420	0.001		0.0	False		,,,				2504	0.0				p.A83A	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G249A	2						.						55.0	61.0	59.0					2																	238976752		2203	4300	6503	238641491	SO:0001819	synonymous_variant	51540	exon3			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.249G>A	2.37:g.238976752G>A			238641491	NM_016510	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Silent	SNP	ENST00000555827.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.373	-0.128062	0.06753	.	.	ENSG00000132330	ENST00000412508	.	.	.	5.79	-7.69	0.01263	.	.	.	.	.	T	0.62986	0.2473	.	.	.	0.49051	D	0.999745	.	.	.	.	.	.	T	0.69094	-0.5236	4	.	.	.	-46.5	16.22	0.82254	0.0641:0.7474:0.1107:0.0778	.	.	.	.	K	84	.	.	E	+	1	0	SCLY	238641491	0.010000	0.17322	0.042000	0.18584	0.210000	0.24377	-1.684000	0.01932	-0.847000	0.04168	0.643000	0.83706	GAA		0.423	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	
ALLC	55821	broad.mit.edu	37	2	3726107	3726107	+	Nonsense_Mutation	SNP	G	G	A	rs371999138		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:3726107G>A	ENST00000252505.3	+	4	296	c.134G>A	c.(133-135)tGg>tAg	p.W45*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	64					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.W45*(1)|p.W45L(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)		TTTGGGAAATGGATGGATGGC	0.468										HNSCC(21;0.051)																											p.W45X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|prostate(1)	c.G134A	2						.	G	stop/TRP	1,3879		0,1,1939	116.0	116.0	116.0		134	5.2	1.0	2		116	0,8318		0,0,4159	no	stop-gained	ALLC	NM_018436.3		0,1,6098	AA,AG,GG		0.0,0.0258,0.0082		45/392	3726107	1,12197	1940	4159	6099	3703982	SO:0001587	stop_gained	55821	exon4			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.134G>A	2.37:g.3726107G>A	ENSP00000252505:p.Trp45*		3703982	NM_018436	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Nonsense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	37	6.524728	0.97637	2.58E-4	0.0	ENSG00000151360	ENST00000252505	.	.	.	5.24	5.24	0.73138	.	0.056031	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3009	16.6841	0.85300	0.0:0.0:1.0:0.0	.	.	.	.	X	45	.	ENSP00000252505:W45X	W	+	2	0	ALLC	3703982	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.107000	0.71517	2.589000	0.87451	0.655000	0.94253	TGG		0.468	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
ASAP2	8853	broad.mit.edu	37	2	9528661	9528661	+	Missense_Mutation	SNP	G	G	A	rs1139804		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:9528661G>A	ENST00000281419.3	+	22	2709	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Missense_Mutation_p.R790Q	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	790	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.R790Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTTCCTCCACGGAATGTTGGC	0.582																																					p.R790Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2369A	2						.						27.0	30.0	29.0					2																	9528661		2203	4299	6502	9446112	SO:0001583	missense	8853	exon22			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2369G>A	2.37:g.9528661G>A	ENSP00000281419:p.Arg790Gln		9446112	NM_001135191	D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395891	0.62177	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.58210	0.35;0.36	5.47	5.47	0.80525	.	0.415201	0.14174	U	0.336512	T	0.62708	0.2450	N	0.22421	0.69	0.54753	D	0.999984	D;D	0.71674	0.998;0.997	D;P	0.75484	0.986;0.665	T	0.61362	-0.7078	10	0.39692	T	0.17	.	19.3268	0.94265	0.0:0.0:1.0:0.0	.	790;790	O43150-2;O43150	.;ASAP2_HUMAN	Q	790	ENSP00000281419:R790Q;ENSP00000316404:R790Q	ENSP00000281419:R790Q	R	+	2	0	ASAP2	9446112	1.000000	0.71417	0.878000	0.34440	0.019000	0.09904	8.936000	0.92931	2.563000	0.86464	0.561000	0.74099	CGG		0.582	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	
CPSF3	51692	broad.mit.edu	37	2	9570054	9570054	+	Silent	SNP	C	C	T	rs139906430		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:9570054C>T	ENST00000238112.3	+	3	323	c.117C>T	c.(115-117)ctC>ctT	p.L39L	CPSF3_ENST00000460593.1_Silent_p.L2L	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	39					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.L39L(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCTTTCAGCTCGACTGTGGGA	0.388																																					p.L39L	Colon(194;1259 2048 3845 5218 19985)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	2						.	C		1,4405	2.1+/-5.4	0,1,2202	150.0	141.0	144.0		117	2.0	1.0	2	dbSNP_134	144	0,8600		0,0,4300	no	coding-synonymous	CPSF3	NM_016207.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		39/685	9570054	1,13005	2203	4300	6503	9487505	SO:0001819	synonymous_variant	51692	exon3			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.117C>T	2.37:g.9570054C>T			9487505	NM_016207	O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	CCDS1664.1																																																																																				0.388	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207	
ADAM17	6868	broad.mit.edu	37	2	9634834	9634834	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:9634834C>T	ENST00000310823.3	-	15	2028	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	IAH1_ENST00000545602.1_3'UTR	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	616	Crambin-like.				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.D616N(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)		TGTTCAGCATCGACATAGGGC	0.438																																					p.D616N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1846A	2						.						112.0	106.0	108.0					2																	9634834		2203	4300	6503	9552285	SO:0001583	missense	6868	exon15			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.1846G>A	2.37:g.9634834C>T	ENSP00000309968:p.Asp616Asn		9552285	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658225	0.29425	.	.	ENSG00000151694	ENST00000310823	T	0.21361	2.01	5.36	3.57	0.40892	.	0.361639	0.33040	N	0.005346	T	0.20373	0.0490	L	0.59436	1.845	0.27763	N	0.943752	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.17258	-1.0375	10	0.19147	T	0.46	.	12.1516	0.54053	0.0:0.8605:0.0:0.1395	.	616;616	B2RNB2;P78536	.;ADA17_HUMAN	N	616	ENSP00000309968:D616N	ENSP00000309968:D616N	D	-	1	0	ADAM17	9552285	0.281000	0.24258	0.011000	0.14972	0.904000	0.53231	1.008000	0.29872	0.752000	0.32923	0.555000	0.69702	GAT		0.438	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
ITSN2	50618	broad.mit.edu	37	2	24469741	24469741	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:24469741T>G	ENST00000355123.4	-	28	3753	c.3310A>C	c.(3310-3312)Aaa>Caa	p.K1104Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.K1077Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.K1104Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1104	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	p.K1103Q(1)		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)					AACCATCCTTTCTGTCGCTTT	0.348																																					p.K1077Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3229C	2						.						96.0	97.0	97.0					2																	24469741		2203	4300	6503	24323245	SO:0001583	missense	50618	exon27			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.3310A>C	2.37:g.24469741T>G	ENSP00000347244:p.Lys1104Gln		24323245	NM_019595	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.75|17.75	3.466473|3.466473	0.63625|0.63625	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921|ENST00000416160	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.59|5.59	4.43|4.43	0.53597|0.53597	Src homology-3 domain (4);|.	0.000000|.	0.36854|.	U|.	0.002363|.	T|T	0.49779|0.49779	0.1577|0.1577	N|N	0.25957|0.25957	0.775|0.775	0.47407|0.47407	D|D	0.99941|0.99941	D;D;D|.	0.64830|.	0.986;0.992;0.994|.	P;P;P|.	0.59115|.	0.575;0.77;0.852|.	T|T	0.40553|0.40553	-0.9557|-0.9557	10|5	0.66056|.	D|.	0.02|.	.|.	11.5815|11.5815	0.50894|0.50894	0.0:0.0699:0.0:0.93|0.0:0.0699:0.0:0.93	.|.	1104;1077;1104|.	Q9NZM3-3;Q9NZM3-2;Q9NZM3|.	.;.;ITSN2_HUMAN|.	Q|S	1077;1104;1077;1104|31	ENSP00000354561:K1077Q;ENSP00000347244:K1104Q;ENSP00000370250:K1077Q;ENSP00000384499:K1104Q|.	ENSP00000347244:K1104Q|.	K|R	-|-	1|3	0|2	ITSN2|ITSN2	24323245|24323245	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	5.934000|5.934000	0.70138|0.70138	1.062000|1.062000	0.40625|0.40625	0.383000|0.383000	0.25322|0.25322	AAA|AGA		0.348	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
ITSN2	50618	broad.mit.edu	37	2	24498605	24498605	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:24498605C>A	ENST00000355123.4	-	18	2501	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K659N|ITSN2_ENST00000406921.3_Missense_Mutation_p.K686N|SCARNA21_ENST00000515996.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	686					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)	p.K685N(1)		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)					CTTCTAGTTTCTTTTTCTGCA	0.328																																					p.K659N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1977T	2						.						167.0	151.0	156.0					2																	24498605		2203	4299	6502	24352109	SO:0001583	missense	50618	exon17			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.2058G>T	2.37:g.24498605C>A	ENSP00000347244:p.Lys686Asn		24352109	NM_019595	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702932	0.48412	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.60672	1.45;0.17;1.45;0.62	5.57	4.6	0.57074	.	0.000000	0.38720	U	0.001584	T	0.66177	0.2763	M	0.63843	1.955	0.37134	D	0.901402	D;D;D	0.56746	0.977;0.977;0.961	P;P;P	0.55923	0.787;0.714;0.522	T	0.72613	-0.4240	10	0.51188	T	0.08	.	11.6326	0.51185	0.0:0.8468:0.0:0.1532	.	686;659;686	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	N	659;686;659;686	ENSP00000354561:K659N;ENSP00000347244:K686N;ENSP00000370250:K659N;ENSP00000384499:K686N	ENSP00000347244:K686N	K	-	3	2	ITSN2	24352109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.356000	0.34079	1.340000	0.45581	0.650000	0.86243	AAG		0.328	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
ASXL2	55252	broad.mit.edu	37	2	25982468	25982468	+	Silent	SNP	C	C	T	rs369962968	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:25982468C>T	ENST00000435504.4	-	9	1115	c.822G>A	c.(820-822)ccG>ccA	p.P274P	ASXL2_ENST00000404843.1_Silent_p.P14P|ASXL2_ENST00000336112.4_Silent_p.P246P|ASXL2_ENST00000272341.4_Silent_p.P14P			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	274					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.P274P(1)|p.P14P(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)					GAATGGAGTCCGGTGTCTCAA	0.433													C|||	4	0.000798722	0.003	0.0	5008	,	,		17258	0.0		0.0	False		,,,				2504	0.0				p.P274P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G822A	2						.	C		8,3900		0,8,1946	206.0	195.0	199.0		822	-2.6	1.0	2		199	0,8318		0,0,4159	no	coding-synonymous	ASXL2	NM_018263.4		0,8,6105	TT,TC,CC		0.0,0.2047,0.0654		274/1436	25982468	8,12218	1954	4159	6113	25835972	SO:0001819	synonymous_variant	55252	exon8					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.822G>A	2.37:g.25982468C>T			25835972	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37																																																																																					0.433	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
CAD	790	broad.mit.edu	37	2	27448616	27448616	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27448616G>A	ENST00000403525.1	+	12	1808	c.1664G>A	c.(1663-1665)cGt>cAt	p.R555H	CAD_ENST00000264705.4_Missense_Mutation_p.R555H			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.R555H(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)					GTGCTAGTGCGTGCAGCCTTT	0.592																																					p.R555H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1664A	2						.						130.0	135.0	133.0					2																	27448616		2203	4300	6503	27302120	SO:0001583	missense	790	exon12			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.1664G>A	2.37:g.27448616G>A	ENSP00000384510:p.Arg555His		27302120	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.328020	0.95733	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97959	-4.63;-4.63	5.65	5.65	0.86999	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.048689	0.85682	D	0.000000	D	0.99513	0.9826	H	0.99951	5.03	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.92	D	0.97583	1.0112	10	0.87932	D	0	4.1439	18.3447	0.90317	0.0:0.0:1.0:0.0	.	555;555	F8VPD4;P27708	.;PYR1_HUMAN	H	555	ENSP00000264705:R555H;ENSP00000384510:R555H	ENSP00000264705:R555H	R	+	2	0	CAD	27302120	1.000000	0.71417	0.945000	0.38365	0.911000	0.54048	9.194000	0.94962	2.683000	0.91414	0.456000	0.33151	CGT		0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
TRIM54	57159	broad.mit.edu	37	2	27505698	27505698	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27505698C>A	ENST00000380075.2	+	1	439	c.99C>A	c.(97-99)ttC>ttA	p.F33L	TRIM54_ENST00000296098.4_Missense_Mutation_p.F33L	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	33					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.F17L(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGATGTTCTCCAAACCAG	0.587																																					p.F33L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C99A	2						.						255.0	213.0	227.0					2																	27505698		2203	4300	6503	27359202	SO:0001583	missense	57159	exon1			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.99C>A	2.37:g.27505698C>A	ENSP00000369415:p.Phe33Leu		27359202	NM_032546	A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014435	0.93404	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.16196	2.36;2.36	5.49	4.6	0.57074	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	N	0.13299	0.325	0.58432	D	0.999993	D;P	0.65815	0.995;0.931	D;P	0.70935	0.971;0.872	T	0.02821	-1.1106	10	0.72032	D	0.01	-24.2024	11.31	0.49358	0.0:0.9122:0.0:0.0878	.	33;33	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	L	33	ENSP00000369415:F33L;ENSP00000296098:F33L	ENSP00000296098:F33L	F	+	3	2	TRIM54	27359202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.325000	0.33724	2.568000	0.86640	0.462000	0.41574	TTC		0.587	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841	
TRIM54	57159	broad.mit.edu	37	2	27521556	27521556	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27521556G>A	ENST00000380075.2	+	2	630	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	TRIM54_ENST00000296098.4_Missense_Mutation_p.R97Q	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	97					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.R81Q(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGCAGCGAAACCTGCTA	0.572																																					p.R97Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	2						.						83.0	65.0	71.0					2																	27521556		2203	4300	6503	27375060	SO:0001583	missense	57159	exon2			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.290G>A	2.37:g.27521556G>A	ENSP00000369415:p.Arg97Gln		27375060	NM_032546	A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	36	5.730860	0.96856	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.17854	2.25;2.25	5.34	5.34	0.76211	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.86953	2.85	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.80764	0.947;0.994	T	0.55655	-0.8107	10	0.72032	D	0.01	-12.308	16.5279	0.84336	0.0:0.0:1.0:0.0	.	97;97	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	Q	97	ENSP00000369415:R97Q;ENSP00000296098:R97Q	ENSP00000296098:R97Q	R	+	2	0	TRIM54	27375060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.790000	0.99075	2.498000	0.84270	0.511000	0.50034	CGA		0.572	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841	
GTF3C2	2976	broad.mit.edu	37	2	27551342	27551342	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27551342C>T	ENST00000359541.2	-	16	2678	c.2249G>A	c.(2248-2250)cGa>cAa	p.R750Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R750Q|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	750					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.R750Q(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAAATCTTCGCTCTACAGG	0.463																																					p.R750Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2249A	2						.						112.0	103.0	106.0					2																	27551342		2203	4300	6503	27404846	SO:0001583	missense	2976	exon16			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2249G>A	2.37:g.27551342C>T	ENSP00000352536:p.Arg750Gln		27404846	NM_001035521	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.703092|4.703092	0.88924|0.88924	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000454704;ENST00000415683|ENST00000359541;ENST00000264720	.|T;T	.|0.74315	.|-0.83;-0.83	5.23|5.23	5.23|5.23	0.72850|0.72850	.|WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76169|0.76169	0.3950|0.3950	L|L	0.27053|0.27053	0.805|0.805	0.47374|0.47374	D|D	0.999407|0.999407	.|D	.|0.89917	.|1.0	.|D	.|0.66497	.|0.944	T|T	0.70799|0.70799	-0.4774|-0.4774	5|10	.|0.16896	.|T	.|0.51	-7.7058|-7.7058	16.6653|16.6653	0.85252|0.85252	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|750	.|Q8WUA4	.|TF3C2_HUMAN	K|Q	259;152|750	.|ENSP00000352536:R750Q;ENSP00000264720:R750Q	.|ENSP00000264720:R750Q	E|R	-|-	1|2	0|0	GTF3C2|GTF3C2	27404846|27404846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.018000|6.018000	0.70811|0.70811	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.463	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
ZNF513	130557	broad.mit.edu	37	2	27603043	27603043	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27603043T>G	ENST00000323703.6	-	2	326	c.128A>C	c.(127-129)gAt>gCt	p.D43A	ZNF513_ENST00000407879.1_5'UTR|ZNF513_ENST00000491924.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	43					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.D43A(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACTCCAGATCCTGGCCTAG	0.567																																					p.D43A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A128C	2						.						114.0	118.0	116.0					2																	27603043		2203	4300	6503	27456547	SO:0001583	missense	130557	exon2			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.128A>C	2.37:g.27603043T>G	ENSP00000318373:p.Asp43Ala		27456547	NM_144631	A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.119849	0.56613	.	.	ENSG00000163795	ENST00000323703	T	0.08102	3.13	3.67	3.67	0.42095	.	0.000000	0.48767	D	0.000164	T	0.07773	0.0195	N	0.19112	0.55	0.80722	D	1	D	0.54772	0.968	P	0.52424	0.698	T	0.38564	-0.9655	10	0.09590	T	0.72	-5.8765	8.9071	0.35530	0.0:0.0:0.0:1.0	.	43	Q8N8E2	ZN513_HUMAN	A	43	ENSP00000318373:D43A	ENSP00000318373:D43A	D	-	2	0	ZNF513	27456547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.457000	0.53007	1.682000	0.51000	0.413000	0.27773	GAT		0.567	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631	
PPM1G	5496	broad.mit.edu	37	2	27607618	27607618	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27607618A>G	ENST00000344034.4	-	5	1011	c.747T>C	c.(745-747)ccT>ccC	p.P249P	PPM1G_ENST00000350803.4_Silent_p.P249P	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	249					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.P249P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TAGCAACTCGAGGCAGCTTGT	0.577																																					p.P249P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T747C	2						.						112.0	101.0	105.0					2																	27607618		2203	4300	6503	27461122	SO:0001819	synonymous_variant	5496	exon5			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.747T>C	2.37:g.27607618A>G			27461122	NM_177983		Silent	SNP	ENST00000344034.4	37	CCDS1752.1																																																																																				0.577	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707	
KRTCAP3	200634	broad.mit.edu	37	2	27666892	27666892	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27666892A>C	ENST00000543753.1	+	6	739	c.692A>C	c.(691-693)gAa>gCa	p.E231A	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.E231A|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.E213A	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	231						integral component of membrane (GO:0016021)		p.E231A(1)		large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CAAAATCAAGAAATCCGGGCA	0.473																																					p.E231A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A692C	2						.						69.0	70.0	70.0					2																	27666892		2203	4300	6503	27520396	SO:0001583	missense	200634	exon6			AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.692A>C	2.37:g.27666892A>C	ENSP00000442400:p.Glu231Ala		27520396	NM_001168364	B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	A	6.688	0.495551	0.12762	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293;ENST00000452499	T;T;T	0.48201	0.82;0.82;0.82	5.82	4.66	0.58398	.	0.842078	0.10772	N	0.635866	T	0.44685	0.1305	L	0.54323	1.7	0.09310	N	1	B	0.16603	0.018	B	0.19391	0.025	T	0.39313	-0.9620	10	0.51188	T	0.08	-4.3813	8.7609	0.34674	0.9141:0.0:0.0859:0.0	.	231	Q53RY4	KCP3_HUMAN	A	231;231;213;53	ENSP00000442400:E231A;ENSP00000288873:E231A;ENSP00000384689:E213A	ENSP00000288873:E231A	E	+	2	0	KRTCAP3	27520396	0.390000	0.25213	0.002000	0.10522	0.011000	0.07611	4.007000	0.57093	1.025000	0.39708	-0.451000	0.05528	GAA		0.473	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853	
C2orf16	84226	broad.mit.edu	37	2	27802566	27802566	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27802566C>A	ENST00000408964.2	+	1	3178	c.3127C>A	c.(3127-3129)Ctt>Att	p.L1043I	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1043						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.L1043I(1)		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)					TAGAGAAGATCTTGTTCCAAT	0.463																																					p.L1043I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3127A	2						.						108.0	112.0	110.0					2																	27802566		2053	4216	6269	27656070	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.3127C>A	2.37:g.27802566C>A	ENSP00000386190:p.Leu1043Ile		27656070	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	7.776	0.708517	0.15239	.	.	ENSG00000221843	ENST00000408964	T	0.05319	3.46	5.26	0.979	0.19745	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	P	0.39003	0.654	B	0.28638	0.092	T	0.44436	-0.9328	9	0.48119	T	0.1	.	6.9204	0.24385	0.0:0.4987:0.0:0.5013	.	1043	Q68DN1	CB016_HUMAN	I	1043	ENSP00000386190:L1043I	ENSP00000386190:L1043I	L	+	1	0	C2orf16	27656070	0.133000	0.22466	0.061000	0.19648	0.054000	0.15201	0.110000	0.15437	-0.125000	0.11703	0.467000	0.42956	CTT		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
ZNF512	84450	broad.mit.edu	37	2	27844028	27844028	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27844028C>T	ENST00000355467.4	+	14	1487	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	ZNF512_ENST00000416005.2_Silent_p.F439F|ZNF512_ENST00000379717.1_Silent_p.F467F|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Silent_p.F337F|ZNF512_ENST00000413371.2_Silent_p.F391F	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	468					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.F468F(2)		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)					AGGACTGGTTCGTTGTAAACC	0.418																																					p.F468F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1404T	2						.						52.0	54.0	53.0					2																	27844028		2203	4300	6503	27697532	SO:0001819	synonymous_variant	84450	exon14			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.1404C>T	2.37:g.27844028C>T			27697532	NM_032434	B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	CCDS1758.1																																																																																				0.418	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434	
SUPT7L	9913	broad.mit.edu	37	2	27876440	27876440	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:27876440C>T	ENST00000337768.5	-	6	1726	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N	SUPT7L_ENST00000404798.2_Missense_Mutation_p.S251N|SUPT7L_ENST00000406540.1_Missense_Mutation_p.S384N|SUPT7L_ENST00000405491.1_Missense_Mutation_p.S384N|SUPT7L_ENST00000464789.2_Missense_Mutation_p.S384N	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	386					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.S386N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					ACCATAGCTGCTATCTGAGTC	0.517																																					p.S386N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	2						.						130.0	136.0	134.0					2																	27876440		1989	4170	6159	27729944	SO:0001583	missense	9913	exon6			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	ENST00000337768.5:c.1157G>A	2.37:g.27876440C>T	ENSP00000336750:p.Ser386Asn		27729944	NM_014860	B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996805	0.74818	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	6.17	6.17	0.99709	.	0.088587	0.85682	D	0.000000	T	0.50480	0.1618	N	0.24115	0.695	0.44694	D	0.997683	B;B;B	0.32160	0.244;0.358;0.244	B;B;B	0.33042	0.107;0.157;0.107	T	0.50980	-0.8763	9	0.72032	D	0.01	-22.4417	20.8794	0.99867	0.0:1.0:0.0:0.0	.	251;384;386	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	N	386;384;384;384;251	.	ENSP00000336750:S386N	S	-	2	0	SUPT7L	27729944	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.703000	0.61824	2.941000	0.99782	0.655000	0.94253	AGC		0.517	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860	
TRMT61B	55006	broad.mit.edu	37	2	29087917	29087917	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:29087917G>A	ENST00000306108.5	-	2	791	c.768C>T	c.(766-768)ggC>ggT	p.G256G		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	256					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)	p.G256G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						TTCCACCAGAGCCTGAGCCAG	0.383																																					p.G256G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C768T	2						.						73.0	65.0	67.0					2																	29087917		2203	4300	6503	28941421	SO:0001819	synonymous_variant	55006	exon2			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.768C>T	2.37:g.29087917G>A			28941421	NM_017910	Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	CCDS1768.1																																																																																				0.383	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910	
C2orf71	388939	broad.mit.edu	37	2	29295794	29295794	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:29295794G>T	ENST00000331664.5	-	1	1333	c.1334C>A	c.(1333-1335)tCc>tAc	p.S445Y		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	445					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.S445Y(1)		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						CAAAGGTGGGGAGGTGATATT	0.562																																					p.S445Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1334A	2						.						92.0	96.0	95.0					2																	29295794		1976	4158	6134	29149298	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.1334C>A	2.37:g.29295794G>T	ENSP00000332809:p.Ser445Tyr		29149298	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411005	0.42817	.	.	ENSG00000179270	ENST00000331664	T	0.20738	2.05	5.3	2.28	0.28536	.	1.013220	0.07878	N	0.969116	T	0.28034	0.0691	L	0.50333	1.59	0.09310	N	1	D	0.53151	0.958	P	0.48627	0.584	T	0.20538	-1.0272	10	0.54805	T	0.06	-3.2354	9.9871	0.41847	0.0:0.2447:0.5079:0.2473	.	445	A6NGG8	CB071_HUMAN	Y	445	ENSP00000332809:S445Y	ENSP00000332809:S445Y	S	-	2	0	C2orf71	29149298	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.730000	0.26043	0.584000	0.29591	-0.305000	0.09177	TCC		0.562	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
C2orf71	388939	broad.mit.edu	37	2	29296598	29296598	+	Missense_Mutation	SNP	G	G	A	rs190791051	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:29296598G>A	ENST00000331664.5	-	1	529	c.530C>T	c.(529-531)cCg>cTg	p.P177L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	177					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.P177L(1)		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						CAGAGGCTCCGGGAAGTCCAC	0.517													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		20072	0.0		0.0	False		,,,				2504	0.0				p.P177L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C530T	2						.	G	LEU/PRO	13,4105		0,13,2046	118.0	117.0	117.0		530	5.5	1.0	2		117	1,8387		0,1,4193	yes	missense	C2orf71	NM_001029883.1	98	0,14,6239	AA,AG,GG		0.0119,0.3157,0.1119	probably-damaging	177/1289	29296598	14,12492	2059	4194	6253	29150102	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.530C>T	2.37:g.29296598G>A	ENSP00000332809:p.Pro177Leu		29150102	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	24.7	4.562659	0.86335	0.003157	1.19E-4	ENSG00000179270	ENST00000331664	T	0.55760	0.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73646	-0.3917	10	0.87932	D	0	-16.0109	19.4437	0.94838	0.0:0.0:1.0:0.0	.	177	A6NGG8	CB071_HUMAN	L	177	ENSP00000332809:P177L	ENSP00000332809:P177L	P	-	2	0	C2orf71	29150102	1.000000	0.71417	0.969000	0.41365	0.806000	0.45545	9.609000	0.98334	2.600000	0.87896	0.561000	0.74099	CCG		0.517	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
CLIP4	79745	broad.mit.edu	37	2	29355040	29355040	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:29355040T>C	ENST00000320081.5	+	4	551	c.296T>C	c.(295-297)gTg>gCg	p.V99A	CLIP4_ENST00000404424.1_Missense_Mutation_p.V99A|CLIP4_ENST00000401617.2_5'UTR|CLIP4_ENST00000401605.1_Missense_Mutation_p.V99A	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	99								p.V99A(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GGTTGCAATGTGAATGATAGA	0.383																																					p.V99A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T296C	2						.						241.0	232.0	235.0					2																	29355040		2203	4300	6503	29208544	SO:0001583	missense	79745	exon4			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.296T>C	2.37:g.29355040T>C	ENSP00000327009:p.Val99Ala		29208544	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606869	0.66558	.	.	ENSG00000115295	ENST00000401605;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000530644	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.54	5.54	0.83059	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	M	0.66939	2.045	0.53688	D	0.999978	D;D	0.89917	0.997;1.0	D;D	0.80764	0.978;0.994	T	0.74172	-0.3751	10	0.72032	D	0.01	.	15.6939	0.77477	0.0:0.0:0.0:1.0	.	99;99	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	A	99;99;99;99;100;99;81	ENSP00000384242:V99A;ENSP00000385594:V99A;ENSP00000327009:V99A;ENSP00000393354:V99A	ENSP00000327009:V99A	V	+	2	0	CLIP4	29208544	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	6.157000	0.71846	2.101000	0.63845	0.528000	0.53228	GTG		0.383	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
ALK	238	broad.mit.edu	37	2	29519819	29519819	+	Silent	SNP	G	G	A	rs367912697		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:29519819G>A	ENST00000389048.3	-	9	2658	c.1752C>T	c.(1750-1752)gtC>gtT	p.V584V	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	584	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V584V(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)	CATAGGCGGCGACATGCCAGA	0.557			"""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.V584V		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1752T	2						.						152.0	117.0	129.0					2																	29519819		2203	4300	6503	29373323	SO:0001819	synonymous_variant	238	exon9	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.1752C>T	2.37:g.29519819G>A			29373323	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																				0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
XDH	7498	broad.mit.edu	37	2	31596796	31596796	+	Silent	SNP	G	G	A	rs140651875	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:31596796G>A	ENST00000379416.3	-	16	1677	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	543					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.F543F(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)	TTGCACTGGCGAAAGTGGGGT	0.463													G|||	14	0.00279553	0.0068	0.0072	5008	,	,		18821	0.0		0.0	False		,,,				2504	0.0				p.F543F	Colon(66;682 1445 30109 40147)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1629T	2						.	G		30,4376	36.0+/-67.5	0,30,2173	54.0	51.0	52.0		1629	-6.0	0.0	2	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous	XDH	NM_000379.3		0,30,6473	AA,AG,GG		0.0,0.6809,0.2307		543/1334	31596796	30,12976	2203	4300	6503	31450300	SO:0001819	synonymous_variant	7498	exon16			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.1629C>T	2.37:g.31596796G>A			31450300	NM_000379	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																				0.463	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
BIRC6	57448	broad.mit.edu	37	2	32658810	32658810	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:32658810A>C	ENST00000421745.2	+	13	3481	c.3347A>C	c.(3346-3348)aAt>aCt	p.N1116T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1116					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.N1088T(1)|p.N1116T(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)					AACATCACCAATATTCCACAG	0.343																																					p.N1116T	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3347C	2						.						95.0	87.0	89.0					2																	32658810		2203	4300	6503	32512314	SO:0001583	missense	57448	exon13			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.3347A>C	2.37:g.32658810A>C	ENSP00000393596:p.Asn1116Thr		32512314	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102794	0.37145	.	.	ENSG00000115760	ENST00000421745;ENST00000444173	T	0.74842	-0.88	5.34	2.95	0.34219	.	0.108901	0.64402	D	0.000013	T	0.68467	0.3004	M	0.65975	2.015	0.45284	D	0.998287	B	0.25667	0.131	B	0.22386	0.039	T	0.61520	-0.7046	10	0.35671	T	0.21	.	9.335	0.38045	0.8504:0.0:0.1496:0.0	.	1116	Q9NR09	BIRC6_HUMAN	T	1116;32	ENSP00000393596:N1116T	ENSP00000393596:N1116T	N	+	2	0	BIRC6	32512314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.302000	0.65733	0.420000	0.25954	0.482000	0.46254	AAT		0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32689781	32689781	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:32689781G>A	ENST00000421745.2	+	25	5280	c.5146G>A	c.(5146-5148)Gtt>Att	p.V1716I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1716					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.V1688I(1)|p.V1716I(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)					CAATGAAGCAGTTTCCGTTGT	0.448																																					p.V1716I	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5146A	2						.						142.0	135.0	137.0					2																	32689781		2203	4300	6503	32543285	SO:0001583	missense	57448	exon25			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.5146G>A	2.37:g.32689781G>A	ENSP00000393596:p.Val1716Ile		32543285	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403516	0.83230	.	.	ENSG00000115760	ENST00000421745	T	0.74737	-0.87	5.84	4.97	0.65823	.	0.066823	0.64402	D	0.000015	T	0.69024	0.3065	L	0.50333	1.59	0.58432	D	0.999994	B	0.32302	0.363	B	0.31946	0.138	T	0.66701	-0.5857	10	0.33141	T	0.24	.	14.698	0.69136	0.069:0.0:0.931:0.0	.	1716	Q9NR09	BIRC6_HUMAN	I	1716	ENSP00000393596:V1716I	ENSP00000393596:V1716I	V	+	1	0	BIRC6	32543285	1.000000	0.71417	0.980000	0.43619	0.983000	0.72400	8.025000	0.88777	1.475000	0.48197	0.655000	0.94253	GTT		0.448	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32692602	32692602	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:32692602G>T	ENST00000421745.2	+	27	5500	c.5366G>T	c.(5365-5367)aGa>aTa	p.R1789I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1789					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.R1761I(1)|p.R1789I(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)					GGAGCAAGAAGATTTGTGACC	0.348																																					p.R1789I	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5366T	2						.						127.0	120.0	122.0					2																	32692602		2203	4300	6503	32546106	SO:0001583	missense	57448	exon27			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.5366G>T	2.37:g.32692602G>T	ENSP00000393596:p.Arg1789Ile		32546106	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674096	0.88445	.	.	ENSG00000115760	ENST00000421745	D	0.83506	-1.73	5.77	5.77	0.91146	.	0.059135	0.64402	D	0.000010	D	0.91119	0.7204	M	0.72894	2.215	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.91236	0.5018	10	0.87932	D	0	.	20.0496	0.97618	0.0:0.0:1.0:0.0	.	1789	Q9NR09	BIRC6_HUMAN	I	1789	ENSP00000393596:R1789I	ENSP00000393596:R1789I	R	+	2	0	BIRC6	32546106	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.754000	0.94517	0.558000	0.71614	AGA		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32703729	32703729	+	Silent	SNP	G	G	A	rs371974273		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:32703729G>A	ENST00000421745.2	+	36	7229	c.7095G>A	c.(7093-7095)acG>acA	p.T2365T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2365					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.T2365T(2)|p.T2337T(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAAATGCCACGAGGCCAACTA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		18561	0.0		0.0	False		,,,				2504	0.001				p.T2365T	Pancreas(94;175 1509 16028 18060 45422)											.	.	4	Substitution - coding silent(4)	large_intestine(2)|endometrium(2)	c.G7095A	2						.						123.0	108.0	113.0					2																	32703729		2203	4300	6503	32557233	SO:0001819	synonymous_variant	57448	exon36			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.7095G>A	2.37:g.32703729G>A			32557233	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																				0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32724879	32724879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:32724879G>A	ENST00000421745.2	+	46	8868	c.8734G>A	c.(8734-8736)Gaa>Aaa	p.E2912K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2912					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.E2884K(1)|p.E2912K(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)					AGTTTGTGGCGAAATGACAAG	0.448																																					p.E2912K	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8734A	2						.						190.0	182.0	185.0					2																	32724879		2203	4300	6503	32578383	SO:0001583	missense	57448	exon46			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.8734G>A	2.37:g.32724879G>A	ENSP00000393596:p.Glu2912Lys		32578383	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080853	0.76528	.	.	ENSG00000115760	ENST00000421745	T	0.74947	-0.89	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.79196	-0.1903	10	0.44086	T	0.13	.	19.6002	0.95559	0.0:0.0:1.0:0.0	.	2912	Q9NR09	BIRC6_HUMAN	K	2912	ENSP00000393596:E2912K	ENSP00000393596:E2912K	E	+	1	0	BIRC6	32578383	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.813000	0.99286	2.691000	0.91804	0.655000	0.94253	GAA		0.448	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32842945	32842945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:32842945G>T	ENST00000421745.2	+	74	14682	c.14548G>T	c.(14548-14550)Gaa>Taa	p.E4850*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4850					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.E4822*(2)|p.E4850*(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGCAGCAAAGAACTCCCCAG	0.473																																					p.E4850X	Pancreas(94;175 1509 16028 18060 45422)											.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G14548T	2						.						89.0	76.0	80.0					2																	32842945		2203	4300	6503	32696449	SO:0001587	stop_gained	57448	exon74			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.14548G>T	2.37:g.32842945G>T	ENSP00000393596:p.Glu4850*		32696449	NM_016252	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	55	24.564365	0.99961	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.76	5.76	0.90799	.	0.264461	0.36034	N	0.002829	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	4850	.	ENSP00000393596:E4850X	E	+	1	0	BIRC6	32696449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.142000	0.94618	2.718000	0.92993	0.655000	0.94253	GAA		0.473	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
VIT	5212	broad.mit.edu	37	2	37032738	37032738	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:37032738C>A	ENST00000389975.3	+	13	1577	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	VIT_ENST00000401530.1_Missense_Mutation_p.F404L|VIT_ENST00000379242.3_Missense_Mutation_p.F440L|VIT_ENST00000404084.1_Missense_Mutation_p.F377L|VIT_ENST00000497382.1_Missense_Mutation_p.F94L|VIT_ENST00000379241.3_Missense_Mutation_p.F403L	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	425	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.F440L(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)				TCAACATTTTCTTCATCACCA	0.522																																					p.F425L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1275A	2						.						109.0	92.0	98.0					2																	37032738		2203	4300	6503	36886242	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.1275C>A	2.37:g.37032738C>A	ENSP00000374625:p.Phe425Leu		36886242	NM_001177969	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640985	0.87859	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.49	4.5	0.54988	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	M	0.77486	2.375	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.997;0.998;0.997	D	0.90504	0.4476	10	0.42905	T	0.14	-24.7632	12.8069	0.57618	0.0:0.8913:0.0:0.1087	.	404;403;425;440	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	L	440;425;94;377;403;404	ENSP00000368544:F440L;ENSP00000374625:F425L;ENSP00000417874:F94L;ENSP00000384154:F377L;ENSP00000368543:F403L;ENSP00000385658:F404L	ENSP00000368543:F403L	F	+	3	2	VIT	36886242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.697000	0.47060	2.569000	0.86673	0.650000	0.86243	TTC		0.522	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
SULT6B1	391365	broad.mit.edu	37	2	37398689	37398689	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:37398689G>T	ENST00000535679.1	-	6	668	c.669C>A	c.(667-669)ttC>ttA	p.F223L	SULT6B1_ENST00000407963.1_Missense_Mutation_p.F185L|SULT6B1_ENST00000379149.2_Missense_Mutation_p.F119L|SULT6B1_ENST00000260637.3_Missense_Mutation_p.F185L			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	223						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)	p.F185L(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CAGTTAGAAAGAATCCCAAGA	0.433																																					p.F185L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C555A	2						.						113.0	111.0	112.0					2																	37398689		2203	4300	6503	37252193	SO:0001583	missense	391365	exon6			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.669C>A	2.37:g.37398689G>T	ENSP00000444081:p.Phe223Leu		37252193	NM_001032377	B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37		.	.	.	.	.	.	.	.	.	.	G	5.270	0.235166	0.09969	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	4.87	4.87	0.63330	Sulfotransferase domain (1);	0.162995	0.56097	D	0.000036	T	0.57607	0.2065	N	0.12569	0.235	0.48087	D	0.999586	B	0.09022	0.002	B	0.12156	0.007	T	0.53968	-0.8363	10	0.02654	T	1	.	7.2287	0.26030	0.1816:0.0:0.8184:0.0	.	223	Q6IMI4	ST6B1_HUMAN	L	223;119;185;185	ENSP00000444081:F223L;ENSP00000368444:F119L;ENSP00000260637:F185L;ENSP00000384950:F185L	ENSP00000260637:F185L	F	-	3	2	SULT6B1	37252193	1.000000	0.71417	0.991000	0.47740	0.230000	0.25150	2.596000	0.46205	2.524000	0.85096	0.591000	0.81541	TTC		0.433	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377	
CEBPZ	10153	broad.mit.edu	37	2	37455502	37455502	+	Silent	SNP	G	G	A	rs141438261		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:37455502G>A	ENST00000234170.5	-	2	979	c.834C>T	c.(832-834)agC>agT	p.S278S		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	278					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S278S(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ACTGCTGTTTGCTGCCCTTCT	0.448																																					p.S278S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C834T	2						.						68.0	72.0	70.0					2																	37455502		2203	4300	6503	37309006	SO:0001819	synonymous_variant	10153	exon2			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.834C>T	2.37:g.37455502G>A			37309006	NM_005760	Q8NE75	Silent	SNP	ENST00000234170.5	37	CCDS1787.1																																																																																				0.448	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760	
NDUFAF7	55471	broad.mit.edu	37	2	37469806	37469806	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:37469806T>G	ENST00000002125.4	+	6	691	c.651T>G	c.(649-651)ttT>ttG	p.F217L	NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Intron	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	217					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)	p.F217L(1)									CACATGAATTTTTTGATGTTC	0.308																																					p.F217L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T651G	2						.						85.0	83.0	83.0					2																	37469806		2202	4295	6497	37323310	SO:0001583	missense	55471	exon6				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.651T>G	2.37:g.37469806T>G	ENSP00000002125:p.Phe217Leu		37323310	NM_144736	Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156411	0.78114	.	.	ENSG00000003509	ENST00000002125;ENST00000431821;ENST00000439218	T;T;T	0.80214	-1.35;-1.35;-1.35	5.52	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86002	0.1495	10	0.44086	T	0.13	-22.1266	8.5779	0.33609	0.0:0.1699:0.0:0.8301	.	190;217	E7EUC2;Q7L592	.;MIDA_HUMAN	L	217;138;175	ENSP00000002125:F217L;ENSP00000399207:F138L;ENSP00000394436:F175L	ENSP00000002125:F217L	F	+	3	2	C2orf56	37323310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.775000	0.38584	0.918000	0.36919	0.528000	0.53228	TTT		0.308	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736	
CYP1B1	1545	broad.mit.edu	37	2	38297953	38297953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:38297953G>T	ENST00000260630.3	-	3	1945	c.1544C>A	c.(1543-1545)tCa>tAa	p.S515*	CYP1B1_ENST00000407341.1_Nonsense_Mutation_p.S515*|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	515			S -> L (in POAG; unknown pathological significance). {ECO:0000269|PubMed:16688110}.		angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S515*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	GACTTTAAATGACTTGGGTTT	0.443																																					p.S515X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1544A	2	GRCh37	CM066036	CYP1B1	M		.						93.0	96.0	95.0					2																	38297953		2203	4300	6503	38151457	SO:0001587	stop_gained	1545	exon3			U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1544C>A	2.37:g.38297953G>T	ENSP00000260630:p.Ser515*		38151457	NM_000104	Q5TZW8|Q93089|Q9H316	Nonsense_Mutation	SNP	ENST00000260630.3	37	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	G	40	8.090494	0.98648	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	.	.	.	5.84	5.84	0.93424	.	0.267010	0.35320	N	0.003290	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	17.6358	0.88122	0.0:0.0:1.0:0.0	.	.	.	.	X	515	.	ENSP00000260630:S515X	S	-	2	0	CYP1B1	38151457	1.000000	0.71417	0.817000	0.32601	0.877000	0.50540	4.039000	0.57325	2.754000	0.94517	0.655000	0.94253	TCA		0.443	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104	
GEMIN6	79833	broad.mit.edu	37	2	39008979	39008979	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:39008979T>G	ENST00000281950.3	+	3	565	c.449T>G	c.(448-450)aTt>aGt	p.I150S	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	150					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.I150S(1)		kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				TCTAATGAGATTATTCTGTCG	0.448																																					p.I150S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T449G	2						.						97.0	100.0	99.0					2																	39008979		2203	4300	6503	38862483	SO:0001583	missense	79833	exon3			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.449T>G	2.37:g.39008979T>G	ENSP00000281950:p.Ile150Ser		38862483	NM_024775	B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	37	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731821	0.89390	.	.	ENSG00000152147	ENST00000281950	T	0.57595	0.39	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76377	-0.2981	10	0.87932	D	0	-28.5703	15.7604	0.78076	0.0:0.0:0.0:1.0	.	150	Q8WXD5	GEMI6_HUMAN	S	150	ENSP00000281950:I150S	ENSP00000281950:I150S	I	+	2	0	GEMIN6	38862483	1.000000	0.71417	0.991000	0.47740	0.958000	0.62258	6.369000	0.73109	2.210000	0.71456	0.482000	0.46254	ATT		0.448	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3		
DHX57	90957	broad.mit.edu	37	2	39033743	39033743	+	Silent	SNP	G	G	A	rs535060789	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:39033743G>A	ENST00000295373.6	-	22	3900	c.3774C>T	c.(3772-3774)aaC>aaT	p.N1258N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1258							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N1258N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CATATCCATCGTTCTTGGTGA	0.418																																					p.N1258N	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3774T	2						.						217.0	186.0	196.0					2																	39033743		2203	4300	6503	38887247	SO:0001819	synonymous_variant	90957	exon22			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3774C>T	2.37:g.39033743G>A			38887247	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	CCDS1800.1																																																																																				0.418	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
CDKL4	344387	broad.mit.edu	37	2	39406347	39406347	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:39406347C>A	ENST00000395035.3	-	8	907	c.908G>T	c.(907-909)aGa>aTa	p.R303I	CDKL4_ENST00000378803.1_Missense_Mutation_p.R303I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	303						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R303I(1)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCTTCTGTTTCTTCCTTCATT	0.378																																					p.R303I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G908T	2						.						120.0	116.0	117.0					2																	39406347		2203	4300	6503	39259851	SO:0001583	missense	344387	exon8				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.908G>T	2.37:g.39406347C>A	ENSP00000378476:p.Arg303Ile		39259851	NM_001009565	Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37		.	.	.	.	.	.	.	.	.	.	C	13.86	2.362316	0.41902	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.71461	0.27;-0.52;-0.57	5.67	3.64	0.41730	.	0.224140	0.31760	N	0.007120	T	0.65780	0.2724	L	0.60455	1.87	0.44409	D	0.997323	P;B	0.42039	0.769;0.38	P;B	0.44477	0.451;0.147	T	0.64605	-0.6368	10	0.42905	T	0.14	-13.4877	5.4561	0.16592	0.0:0.7277:0.0:0.2723	.	303;303	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	85;303;303	ENSP00000389833:R85I;ENSP00000368080:R303I;ENSP00000378476:R303I	ENSP00000368080:R303I	R	-	2	0	CDKL4	39259851	0.999000	0.42202	0.999000	0.59377	0.046000	0.14306	1.274000	0.33132	1.404000	0.46819	0.655000	0.94253	AGA		0.378	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029	
THUMPD2	80745	broad.mit.edu	37	2	39996976	39996976	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:39996976T>G	ENST00000505747.1	-	3	573	c.546A>C	c.(544-546)gaA>gaC	p.E182D	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.E152D|THUMPD2_ENST00000260619.6_Missense_Mutation_p.E152D	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	182	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.E152D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTTGAAACTTTTCGCTTTTAG	0.353																																					p.E182D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A546C	2						.						94.0	85.0	88.0					2																	39996976		2203	4300	6503	39850480	SO:0001583	missense	80745	exon3			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.546A>C	2.37:g.39996976T>G	ENSP00000423933:p.Glu182Asp		39850480	NM_025264	A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828588	0.32329	.	.	ENSG00000138050	ENST00000505747;ENST00000260619;ENST00000454352	.	.	.	5.12	-8.88	0.00789	THUMP (2);	0.754534	0.13012	N	0.420741	T	0.22859	0.0552	L	0.52364	1.645	0.09310	N	1	B;B;B	0.17465	0.004;0.022;0.012	B;B;B	0.16722	0.011;0.011;0.016	T	0.17289	-1.0374	8	.	.	.	.	0.9192	0.01311	0.2184:0.2212:0.3345:0.2259	.	152;89;182	E7EUG5;B4DP37;Q9BTF0	.;.;THUM2_HUMAN	D	182;152;152	.	.	E	-	3	2	THUMPD2	39850480	0.000000	0.05858	0.000000	0.03702	0.276000	0.26787	-1.666000	0.01963	-1.690000	0.01432	0.528000	0.53228	GAA		0.353	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264	
EML4	27436	broad.mit.edu	37	2	42522268	42522268	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:42522268A>C	ENST00000318522.5	+	12	1484	c.1222A>C	c.(1222-1224)Aca>Cca	p.T408P	EML4_ENST00000401738.3_Missense_Mutation_p.T419P|EML4_ENST00000402711.2_Missense_Mutation_p.T350P	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	408					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.T408P(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTCATAGACAACAAATGAAGT	0.363			T	ALK	NSCLC																																p.T350P			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1048C	2						.						106.0	101.0	103.0					2																	42522268		2203	4300	6503	42375772	SO:0001583	missense	27436	exon11			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1222A>C	2.37:g.42522268A>C	ENSP00000320663:p.Thr408Pro		42375772	NM_001145076	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.000600	0.74818	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.56776	0.44;0.44;0.44	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.994;0.999;1.0	P;D;D	0.87578	0.837;0.948;0.998	T	0.67948	-0.5538	10	0.36615	T	0.2	-16.657	16.0347	0.80617	1.0:0.0:0.0:0.0	.	350;419;408	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	P	408;350;419	ENSP00000320663:T408P;ENSP00000385059:T350P;ENSP00000384939:T419P	ENSP00000320663:T408P	T	+	1	0	EML4	42375772	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.277000	0.78572	2.248000	0.74166	0.533000	0.62120	ACA		0.363	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063	
THADA	63892	broad.mit.edu	37	2	43801502	43801502	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:43801502G>T	ENST00000405006.4	-	11	2053	c.1702C>A	c.(1702-1704)Ctt>Att	p.L568I	THADA_ENST00000415080.2_Missense_Mutation_p.L278I|THADA_ENST00000330266.7_Missense_Mutation_p.L278I|THADA_ENST00000402360.2_Missense_Mutation_p.L568I|THADA_ENST00000405975.2_Missense_Mutation_p.L568I|THADA_ENST00000403856.1_Missense_Mutation_p.L568I|THADA_ENST00000404790.1_Missense_Mutation_p.L568I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	568								p.L568I(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GAAGTCTGAAGAATCTTTACC	0.313																																					p.L568I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1702A	2						.						27.0	26.0	26.0					2																	43801502		1811	4075	5886	43655006	SO:0001583	missense	63892	exon11			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1702C>A	2.37:g.43801502G>T	ENSP00000385995:p.Leu568Ile		43655006	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297449	0.81025	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.72394	0.74;0.74;0.74;0.74;-0.65;-0.65;0.74	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.84211	0.5422	M	0.66939	2.045	0.39959	D	0.974643	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.997;0.991;0.989;0.994	D	0.84866	0.0822	10	0.72032	D	0.01	-16.8662	20.3591	0.98849	0.0:0.0:1.0:0.0	.	568;568;568;278;568	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	I	278;568;568;278;568;568;568;568	ENSP00000331105:L278I;ENSP00000386088:L568I;ENSP00000416048:L278I;ENSP00000385995:L568I;ENSP00000385441:L568I;ENSP00000384266:L568I;ENSP00000385469:L568I	ENSP00000331105:L278I	L	-	1	0	THADA	43655006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.230000	0.78097	2.816000	0.96949	0.561000	0.74099	CTT		0.313	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
PLEKHH2	130271	broad.mit.edu	37	2	43902519	43902519	+	Intron	SNP	C	C	A	rs370033463		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:43902519C>A	ENST00000282406.4	+	3	233					NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						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)			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)				AGGCCTCAGTCATTTTCTGAA	0.423																																					p.D315Y												.	.	0			c.G943T	2						.	C	TYR/ASP,	2,3804		0,2,1901	38.0	35.0	36.0		943,	2.7	0.9	2		36	0,8254		0,0,4127	no	missense,intron	PLEKHH2,LOC728819	NM_001101330.1,NM_172069.3	160,	0,2,6028	AA,AC,CC		0.0,0.0525,0.0166	,	315/316,	43902519	2,12058	1903	4127	6030	43756023	SO:0001627	intron_variant	728819	exon1			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.124-3483C>A	2.37:g.43902519C>A			43756023	NM_001101330	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1																																																																																				0.423	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
PLEKHH2	130271	broad.mit.edu	37	2	43971006	43971006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:43971006G>T	ENST00000282406.4	+	23	3543	c.3433G>T	c.(3433-3435)Gaa>Taa	p.E1145*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1145	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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.E1145*(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)				CACAGTGGAAGAATTTTTGAA	0.388																																					p.E1145X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3433T	2						.						101.0	97.0	98.0					2																	43971006		2203	4300	6503	43824510	SO:0001587	stop_gained	130271	exon23			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.3433G>T	2.37:g.43971006G>T	ENSP00000282406:p.Glu1145*		43824510	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	42	9.544732	0.99201	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.5148	19.9857	0.97347	0.0:0.0:1.0:0.0	.	.	.	.	X	1145	.	ENSP00000282406:E1145X	E	+	1	0	PLEKHH2	43824510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	GAA		0.388	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
CAMKMT	79823	broad.mit.edu	37	2	44599889	44599889	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:44599889G>A	ENST00000378494.3	+	2	217	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	CAMKMT_ENST00000407131.1_Missense_Mutation_p.R58Q|CAMKMT_ENST00000402247.1_Missense_Mutation_p.R58Q|CAMKMT_ENST00000477623.1_Intron|CAMKMT_ENST00000403853.3_Missense_Mutation_p.R58Q	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	58						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)	p.R58Q(1)		breast(2)|large_intestine(3)|lung(5)	10						GATTGCCTGCGACATGTATCT	0.353																																					p.R58Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G173A	2						.						115.0	120.0	118.0					2																	44599889		2203	4300	6503	44453393	SO:0001583	missense	79823	exon2				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.173G>A	2.37:g.44599889G>A	ENSP00000367755:p.Arg58Gln		44453393	NM_024766	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	G	8.858	0.946197	0.18356	.	.	ENSG00000143919	ENST00000402247;ENST00000454848;ENST00000407131;ENST00000378494;ENST00000403853	.	.	.	5.75	4.85	0.62838	.	0.521750	0.16041	N	0.232410	T	0.19208	0.0461	L	0.33137	0.985	0.27194	N	0.960356	B;P	0.35011	0.231;0.48	B;B	0.26614	0.013;0.071	T	0.16041	-1.0416	9	0.06099	T	0.92	-0.5246	6.6639	0.23029	0.3147:0.0:0.6853:0.0	.	58;58	Q7Z624;Q7Z624-2	CMKMT_HUMAN;.	Q	58	.	ENSP00000367755:R58Q	R	+	2	0	CAMKMT	44453393	0.948000	0.32251	0.816000	0.32577	0.987000	0.75469	0.826000	0.27407	1.368000	0.46115	0.655000	0.94253	CGA		0.353	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	
EPAS1	2034	broad.mit.edu	37	2	46605818	46605818	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:46605818A>G	ENST00000263734.3	+	11	1976	c.1466A>G	c.(1465-1467)tAc>tGc	p.Y489C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	489					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGACTATTACACATCTTTG	0.502																																					p.Y489C												.	.	0			c.A1466G	2						.						128.0	122.0	124.0					2																	46605818		2203	4300	6503	46459322	SO:0001583	missense	2034	exon11			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1466A>G	2.37:g.46605818A>G	ENSP00000263734:p.Tyr489Cys		46459322	NM_001430	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	2.041	-0.419964	0.04734	.	.	ENSG00000116016	ENST00000263734	T	0.46451	0.87	5.54	5.54	0.83059	.	0.269957	0.38164	N	0.001794	T	0.26702	0.0653	N	0.17082	0.46	0.58432	D	0.999999	P	0.41366	0.747	B	0.40534	0.332	T	0.10706	-1.0618	10	0.02654	T	1	.	15.6783	0.77344	1.0:0.0:0.0:0.0	.	489	Q99814	EPAS1_HUMAN	C	489	ENSP00000263734:Y489C	ENSP00000263734:Y489C	Y	+	2	0	EPAS1	46459322	1.000000	0.71417	0.503000	0.27626	0.050000	0.14768	5.257000	0.65473	2.114000	0.64651	0.528000	0.53228	TAC		0.502	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
PPP1R21	129285	broad.mit.edu	37	2	48681801	48681801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:48681801G>A	ENST00000294952.8	+	3	351	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	PPP1R21_ENST00000281394.4_Missense_Mutation_p.R65Q|PPP1R21_ENST00000449090.2_Missense_Mutation_p.R65Q	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	65						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.R65Q(1)		endometrium(2)|kidney(4)|lung(9)	15						TTGACATTTCGAAATCTGCAG	0.403																																					p.R65Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194A	2						.						92.0	85.0	87.0					2																	48681801		2203	4300	6503	48535305	SO:0001583	missense	129285	exon3			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.194G>A	2.37:g.48681801G>A	ENSP00000294952:p.Arg65Gln		48535305	NM_001135629	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679481	0.96774	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090;ENST00000421486	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.74258	2.255	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	0.998;0.998;0.996;0.999;0.999	T	0.73142	-0.4076	9	0.17369	T	0.5	-8.3542	19.5416	0.95277	0.0:0.0:1.0:0.0	.	65;65;65;65;65	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	Q	65;65;65;19	.	ENSP00000281394:R65Q	R	+	2	0	KLRAQ1	48535305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.490000	0.97952	2.614000	0.88457	0.655000	0.94253	CGA		0.403	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994	
LHCGR	3973	broad.mit.edu	37	2	48915455	48915455	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:48915455G>A	ENST00000294954.7	-	11	1502	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.S467F|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.S432F|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	494					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.S494F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AATTAGAGAAGAAAAGAGCCA	0.443																																					p.S494F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1481T	2						.						125.0	110.0	115.0					2																	48915455		2203	4300	6503	48768959	SO:0001583	missense	3973	exon11				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1481C>T	2.37:g.48915455G>A	ENSP00000294954:p.Ser494Phe		48768959	NM_000233	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047057	0.55110	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.47528	0.84;0.84;0.84	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.107611	0.64402	D	0.000003	T	0.77260	0.4104	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.81901	-0.0720	9	.	.	.	.	19.0195	0.92908	0.0:0.0:1.0:0.0	.	494	P22888	LSHR_HUMAN	F	432;494;467	ENSP00000344301:S432F;ENSP00000294954:S494F;ENSP00000386033:S467F	.	S	-	2	0	LHCGR	48768959	1.000000	0.71417	0.956000	0.39512	0.636000	0.38137	5.566000	0.67372	2.746000	0.94184	0.655000	0.94253	TCT		0.443	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	
LHCGR	3973	broad.mit.edu	37	2	48950766	48950766	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:48950766G>A	ENST00000294954.7	-	5	474	c.453C>T	c.(451-453)ttC>ttT	p.F151F	LHCGR_ENST00000403273.1_Silent_p.F151F|LHCGR_ENST00000405626.1_Silent_p.F151F|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.F151F|LHCGR_ENST00000401907.1_Silent_p.F151F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	151					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.F151F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTTACAGAATGAAATTTGATT	0.388																																					p.F151F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	2						.						135.0	129.0	131.0					2																	48950766		2203	4300	6503	48804270	SO:0001819	synonymous_variant	3973	exon5				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.453C>T	2.37:g.48950766G>A			48804270	NM_000233	Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	CCDS1842.1																																																																																				0.388	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	
FSHR	2492	broad.mit.edu	37	2	49217723	49217723	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:49217723G>T	ENST00000406846.2	-	5	547	c.428C>A	c.(427-429)tCt>tAt	p.S143Y	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.S143Y|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.S143Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	143					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.S143Y(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)	TTTTTGGAGAGAATGAATCTT	0.378									Gonadal Dysgenesis, 46 XX																												p.S143Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C428A	2						.						145.0	155.0	152.0					2																	49217723		2203	4300	6503	49071227	SO:0001583	missense	2492	exon5	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.428C>A	2.37:g.49217723G>T	ENSP00000384708:p.Ser143Tyr		49071227	NM_181446	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592058	0.66219	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.84589	-1.74;-1.74;-1.87;-1.74	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.94903	0.8058	9	.	.	.	.	17.3311	0.87264	0.0:0.0:1.0:0.0	.	143;143;143	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Y	143	ENSP00000384708:S143Y;ENSP00000333908:S143Y;ENSP00000306780:S143Y;ENSP00000415504:S143Y	.	S	-	2	0	FSHR	49071227	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.207000	0.72159	2.658000	0.90341	0.591000	0.81541	TCT		0.378	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
NRXN1	9378	broad.mit.edu	37	2	50149133	50149133	+	Silent	SNP	C	C	T	rs113380721	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:50149133C>T	ENST00000406316.2	-	22	5859	c.4383G>A	c.(4381-4383)gcG>gcA	p.A1461A	NRXN1_ENST00000405472.3_Silent_p.A1483A|NRXN1_ENST00000401669.2_Silent_p.A1491A|NRXN1_ENST00000402717.3_Silent_p.A1483A|NRXN1_ENST00000406859.3_Silent_p.A1461A|NRXN1_ENST00000401710.1_Silent_p.A479A|NRXN1_ENST00000342183.5_Silent_p.A426A|NRXN1_ENST00000404971.1_Silent_p.A1531A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1461					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.A426A(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)			TGGAGCTTTTCGCACTGCTGG	0.398													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		17693	0.0		0.001	False		,,,				2504	0.0				p.A426A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1278A	2						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	170.0	151.0	158.0		4593,4383,1278	1.2	1.0	2	dbSNP_132	158	24,8576	17.3+/-56.4	0,24,4276	no	coding-synonymous,coding-synonymous,coding-synonymous	NRXN1	NM_001135659.1,NM_004801.4,NM_138735.2	,,	0,25,6478	TT,TC,CC		0.2791,0.0227,0.1922	,,	1531/1548,1461/1478,426/443	50149133	25,12981	2203	4300	6503	50002637	SO:0001819	synonymous_variant	9378	exon6			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.4383G>A	2.37:g.50149133C>T			50002637	NM_138735	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	4.713|4.713	0.132622|0.132622	0.09032|0.09032	2.27E-4|2.27E-4	0.002791|0.002791	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000412315	.|.	.|.	.|.	5.44|5.44	1.17|1.17	0.20885|0.20885	.|.	.|.	.|.	.|.	.|.	T|T	0.51329|0.51329	0.1668|0.1668	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38650|0.38650	-0.9651|-0.9651	4|4	.|.	.|.	.|.	.|.	5.1643|5.1643	0.15077|0.15077	0.3533:0.4734:0.0974:0.0759|0.3533:0.4734:0.0974:0.0759	.|.	.|.	.|.	.|.	K|Q	128|194	.|.	.|.	E|R	-|-	1|2	0|0	NRXN1|NRXN1	50002637|50002637	0.885000|0.885000	0.30320|0.30320	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	-0.079000|-0.079000	0.11357|0.11357	0.375000|0.375000	0.24679|0.24679	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NRXN1	9378	broad.mit.edu	37	2	50318600	50318600	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:50318600A>C	ENST00000406316.2	-	19	5055	c.3579T>G	c.(3577-3579)gtT>gtG	p.V1193V	NRXN1_ENST00000405472.3_Silent_p.V1185V|NRXN1_ENST00000401669.2_Silent_p.V1193V|NRXN1_ENST00000402717.3_Silent_p.V1185V|NRXN1_ENST00000406859.3_Silent_p.V1193V|NRXN1_ENST00000401710.1_Silent_p.V211V|NRXN1_ENST00000342183.5_Silent_p.V158V|NRXN1_ENST00000404971.1_Silent_p.V1233V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1193	Laminin G-like 6. {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.V158V(1)|p.V1234V(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)			CATCTGTCCCAACATTAAACT	0.393																																					p.V158V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T474G	2						.						155.0	138.0	144.0					2																	50318600		2203	4300	6503	50172104	SO:0001819	synonymous_variant	9378	exon3			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.3579T>G	2.37:g.50318600A>C			50172104	NM_138735	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.393	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NRXN1	9378	broad.mit.edu	37	2	50848344	50848344	+	Intron	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:50848344G>A	ENST00000406316.2	-	7	2635				NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000404971.1_Splice_Site_p.S426L|NRXN1_ENST00000331040.5_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						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.S427L(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)			GATATCTACCGAACAATGTAG	0.378																																					p.S426L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1277T	2						.						72.0	72.0	72.0					2																	50848344		2110	4276	6386	50701848	SO:0001627	intron_variant	9378	exon8			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.1158+19C>T	2.37:g.50848344G>A			50701848	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	5.297	0.240230	0.10023	.	.	ENSG00000179915	ENST00000404971;ENST00000536085	T	0.78924	-1.22	4.79	4.79	0.61399	.	.	.	.	.	T	0.60287	0.2257	N	0.04768	-0.165	0.80722	D	1	B	0.16166	0.016	B	0.11329	0.006	T	0.55560	-0.8122	9	0.21014	T	0.42	.	18.018	0.89247	0.0:0.0:1.0:0.0	.	426	Q9ULB1-3	.	L	426;427	ENSP00000385142:S426L	ENSP00000385142:S426L	S	-	2	0	NRXN1	50701848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.856000	0.86956	2.479000	0.83701	0.591000	0.81541	TCG		0.378	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
CCDC88A	55704	broad.mit.edu	37	2	55561838	55561838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:55561838G>A	ENST00000436346.1	-	15	2960	c.2119C>T	c.(2119-2121)Cga>Tga	p.R707*	CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.R707*|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R707*|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R707*|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	707					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.R707*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACATTCCTTCGCAGTTCTAAG	0.348																																					p.R707X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2119T	2						.						80.0	82.0	82.0					2																	55561838		2202	4299	6501	55415342	SO:0001587	stop_gained	55704	exon15			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2119C>T	2.37:g.55561838G>A	ENSP00000410608:p.Arg707*		55415342	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.676002	0.98428	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	.	.	.	4.9	3.96	0.45880	.	0.000000	0.40818	U	0.001009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8176	14.4226	0.67193	0.0:0.0:0.7525:0.2475	.	.	.	.	X	707	.	ENSP00000263630:R707X	R	-	1	2	CCDC88A	55415342	0.993000	0.37304	1.000000	0.80357	0.969000	0.65631	1.493000	0.35605	2.421000	0.82119	0.462000	0.41574	CGA		0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
RP11-481J13.1	0	broad.mit.edu	37	2	56216086	56216086	+	lincRNA	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:56216086C>T	ENST00000606639.1	+	0	82				MIR216A_ENST00000385063.1_RNA|AC011306.2_ENST00000446139.1_lincRNA																							TCTTTTGATTCGTGAGGGCTA	0.423																																					.												.	.	0			.	2						.						204.0	184.0	190.0					2																	56216086		1568	3582	5150	56069590			406998	.																															2.37:g.56216086C>T			56069590	.		RNA	SNP	ENST00000606639.1	37																																																																																					0.423	RP11-481J13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470754.1		
BCL11A	53335	broad.mit.edu	37	2	60773130	60773130	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:60773130A>T	ENST00000335712.6	-	2	588	c.361T>A	c.(361-363)Tgc>Agc	p.C121S	BCL11A_ENST00000359629.5_Missense_Mutation_p.C121S|BCL11A_ENST00000356842.4_Missense_Mutation_p.C121S|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.C121S|BCL11A_ENST00000358510.4_Missense_Mutation_p.C121S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	121	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.C121S(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTTTGGGGCAAATTCCTCTA	0.443			T	IGH@	B-CLL																																p.C121S			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T361A	2						.						185.0	187.0	186.0					2																	60773130		2203	4300	6503	60626634	SO:0001583	missense	53335	exon2			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.361T>A	2.37:g.60773130A>T	ENSP00000338774:p.Cys121Ser		60626634	NM_138559	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.150401	0.37923	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.10192	2.9;3.2;3.11;3.15	5.67	5.67	0.87782	.	0.847962	0.10851	N	0.627143	T	0.14700	0.0355	L	0.36672	1.1	0.80722	D	1	P;P;B;P;P;P	0.46220	0.825;0.652;0.318;0.82;0.874;0.82	B;B;B;B;B;B	0.44163	0.255;0.225;0.099;0.41;0.443;0.392	T	0.05338	-1.0891	10	0.49607	T	0.09	-2.8378	15.9002	0.79369	1.0:0.0:0.0:0.0	.	121;121;121;121;121;121	F5H2Y4;Q66LN6;Q9H165-6;Q9H165;Q9H165-3;D9YZV9	.;.;.;BC11A_HUMAN;.;.	S	121;121;157;121;121;121	ENSP00000349300:C121S;ENSP00000438303:C121S;ENSP00000338774:C121S;ENSP00000351307:C121S	ENSP00000338774:C121S	C	-	1	0	BCL11A	60626634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.161000	0.67846	0.455000	0.32223	TGC		0.443	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
CCT4	10575	broad.mit.edu	37	2	62099386	62099386	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:62099386C>T	ENST00000394440.3	-	12	1618	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.R411Q|CCT4_ENST00000544185.1_Missense_Mutation_p.R291Q|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.R385Q	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	441					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.R441Q(1)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ACTCAGTGTTCGTGAATATTC	0.418																																					p.R441Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1322A	2						.						73.0	67.0	69.0					2																	62099386		2203	4300	6503	61952890	SO:0001583	missense	10575	exon12				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1322G>A	2.37:g.62099386C>T	ENSP00000377958:p.Arg441Gln		61952890	NM_006430	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387669	0.61956	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	N	0.20304	0.555	0.80722	D	1	B;B	0.15719	0.014;0.005	B;B	0.09377	0.004;0.003	T	0.59695	-0.7406	10	0.20519	T	0.43	-6.9908	19.0458	0.93019	0.0:1.0:0.0:0.0	.	411;441	F5H5W3;P50991	.;TCPD_HUMAN	Q	441;411;291;385	ENSP00000377958:R441Q;ENSP00000443061:R411Q;ENSP00000443451:R291Q;ENSP00000442174:R385Q	ENSP00000377958:R441Q	R	-	2	0	CCT4	61952890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.668000	0.90789	0.655000	0.94253	CGA		0.418	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2		
B3GNT2	10678	broad.mit.edu	37	2	62449733	62449733	+	Silent	SNP	C	C	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:62449733C>G	ENST00000301998.4	+	2	630	c.378C>G	c.(376-378)cgC>cgG	p.R126R	B3GNT2_ENST00000405767.1_Silent_p.R126R	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	126					axon guidance (GO:0007411)|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)|sensory perception of smell (GO:0007608)|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)	p.R126R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TGAGATGCCGCAATTATTCAC	0.458																																					p.R126R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378G	2						.						139.0	156.0	150.0					2																	62449733		2203	4300	6503	62303237	SO:0001819	synonymous_variant	10678	exon2			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.378C>G	2.37:g.62449733C>G			62303237	NM_006577	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Silent	SNP	ENST00000301998.4	37	CCDS1870.1																																																																																				0.458	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577	
B3GNT2	10678	broad.mit.edu	37	2	62449880	62449880	+	Silent	SNP	G	G	A	rs573730013		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:62449880G>A	ENST00000301998.4	+	2	777	c.525G>A	c.(523-525)acG>acA	p.T175T	B3GNT2_ENST00000405767.1_Silent_p.T175T	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	175					axon guidance (GO:0007411)|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)|sensory perception of smell (GO:0007608)|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)	p.T175T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GGAACCAAACGGTGGTGCGAG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		18412	0.0		0.001	False		,,,				2504	0.0				p.T175T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G525A	2						.						56.0	57.0	57.0					2																	62449880		2203	4300	6503	62303384	SO:0001819	synonymous_variant	10678	exon2			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.525G>A	2.37:g.62449880G>A			62303384	NM_006577	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Silent	SNP	ENST00000301998.4	37	CCDS1870.1																																																																																				0.532	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577	
EHBP1	23301	broad.mit.edu	37	2	63169980	63169980	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:63169980G>T	ENST00000263991.5	+	12	1900	c.1418G>T	c.(1417-1419)aGa>aTa	p.R473I	EHBP1_ENST00000431489.1_Missense_Mutation_p.R438I|EHBP1_ENST00000354487.3_Missense_Mutation_p.R438I|EHBP1_ENST00000405289.1_Missense_Mutation_p.R438I|EHBP1_ENST00000405015.3_Missense_Mutation_p.R438I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	473	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R473I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACATCGTGGAGAAATGGTTTA	0.343																																					p.R438I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1313T	2						.						78.0	81.0	80.0					2																	63169980		2203	4300	6503	63023484	SO:0001583	missense	23301	exon10			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1418G>T	2.37:g.63169980G>T	ENSP00000263991:p.Arg473Ile		63023484	NM_001142614	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095478	0.94197	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72	5.98	5.98	0.97165	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98495	0.9498	M	0.93197	3.39	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.87578	0.996;0.995;0.998	D	0.98821	1.0747	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	438;438;473	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	I	438;438;473;438;438	ENSP00000384143:R438I;ENSP00000403783:R438I;ENSP00000263991:R473I;ENSP00000346482:R438I;ENSP00000385524:R438I	ENSP00000263991:R473I	R	+	2	0	EHBP1	63023484	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.838000	0.97847	0.591000	0.81541	AGA		0.343	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252	
WDPCP	51057	broad.mit.edu	37	2	63631539	63631539	+	Missense_Mutation	SNP	G	G	A	rs141011629	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:63631539G>A	ENST00000272321.7	-	10	1606	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	WDPCP_ENST00000409120.1_Missense_Mutation_p.S168L|WDPCP_ENST00000409562.3_Missense_Mutation_p.S360L|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Missense_Mutation_p.S168L|WDPCP_ENST00000398544.3_Missense_Mutation_p.S201L	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	360					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.S360L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AAGAATTAGCGAAGAATCTTC	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		21210	0.002		0.0	False		,,,				2504	0.0				p.S360L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1079T	2						.	G	LEU/SER	0,3876		0,0,1938	122.0	116.0	118.0		1079	5.4	1.0	2	dbSNP_134	118	2,8296		0,2,4147	no	missense	WDPCP	NM_015910.5	145	0,2,6085	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging	360/747	63631539	2,12172	1938	4149	6087	63485043	SO:0001583	missense	51057	exon10				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1079C>T	2.37:g.63631539G>A	ENSP00000272321:p.Ser360Leu		63485043	NM_015910	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	22.4	4.284623	0.80803	0.0	2.41E-4	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.71634	0.3363	M	0.78049	2.395	0.80722	D	1	D;D;D;P	0.89917	0.983;1.0;0.992;0.953	P;D;P;B	0.85130	0.65;0.997;0.742;0.292	T	0.74627	-0.3602	10	0.87932	D	0	-7.0914	19.5372	0.95257	0.0:0.0:1.0:0.0	.	168;360;360;201	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	L	360;168;168;201;360	ENSP00000272321:S360L;ENSP00000386592:S168L;ENSP00000386769:S168L;ENSP00000381552:S201L;ENSP00000387222:S360L	ENSP00000272321:S360L	S	-	2	0	WDPCP	63485043	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	8.500000	0.90498	2.692000	0.91855	0.591000	0.81541	TCG		0.443	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	
UGP2	7360	broad.mit.edu	37	2	64083493	64083493	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:64083493C>T	ENST00000337130.5	+	2	549	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	UGP2_ENST00000467648.2_Missense_Mutation_p.R14W|UGP2_ENST00000445915.2_Missense_Mutation_p.R34W|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000394417.2_Missense_Mutation_p.R14W	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	25				R -> L (in Ref. 1). {ECO:0000305}.	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.R25W(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AGAAGTCATTCGGCAAGAGCT	0.393																																					p.R14W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C40T	2						.						182.0	186.0	185.0					2																	64083493		2203	4300	6503	63936997	SO:0001583	missense	7360	exon2				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.73C>T	2.37:g.64083493C>T	ENSP00000338703:p.Arg25Trp		63936997	NM_001001521	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330018	0.81690	.	.	ENSG00000169764	ENST00000394417;ENST00000484142;ENST00000482668;ENST00000467648;ENST00000480679;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T	0.48522	0.83;0.83;2.26;0.81	6.08	4.24	0.50183	.	0.056075	0.64402	D	0.000001	T	0.50326	0.1609	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.76494	0.999;0.997	P;P	0.61874	0.895;0.895	T	0.52931	-0.8509	10	0.72032	D	0.01	-26.5245	9.0931	0.36623	0.2584:0.6711:0.0:0.0705	.	34;25	E7EUC7;Q16851	.;UGPA_HUMAN	W	14;25;14;14;14;25;14;17;34;14;14;14	ENSP00000377939:R14W;ENSP00000420793:R14W;ENSP00000338703:R25W;ENSP00000411803:R34W	ENSP00000338703:R25W	R	+	1	2	UGP2	63936997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.192000	0.42649	1.543000	0.49345	0.655000	0.94253	CGG		0.393	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759	
AFTPH	54812	broad.mit.edu	37	2	64779656	64779656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:64779656G>T	ENST00000422803.1	+	2	1362	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	AFTPH_ENST00000409933.1_Nonsense_Mutation_p.E350*|AFTPH_ENST00000409183.1_5'UTR|AFTPH_ENST00000238856.4_Nonsense_Mutation_p.E350*|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.E350*			Q6ULP2	AFTIN_HUMAN	aftiphilin	350					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.E350*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CATTAGGAGAGAACAATGTAA	0.388																																					p.E350X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1048T	2						.						85.0	90.0	88.0					2																	64779656		2203	4300	6503	64633160	SO:0001587	stop_gained	54812	exon2			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1048G>T	2.37:g.64779656G>T	ENSP00000397726:p.Glu350*		64633160	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Nonsense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	37	6.078099	0.97262	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	.	.	.	5.67	3.89	0.44902	.	0.236824	0.37530	N	0.002045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-8.0577	4.2661	0.10764	0.2809:0.0:0.5622:0.1569	.	.	.	.	X	350	.	ENSP00000238855:E350X	E	+	1	0	AFTPH	64633160	0.997000	0.39634	0.993000	0.49108	0.201000	0.24016	1.691000	0.37721	0.874000	0.35823	0.585000	0.79938	GAA		0.388	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
AFTPH	54812	broad.mit.edu	37	2	64780152	64780152	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:64780152G>T	ENST00000422803.1	+	2	1858	c.1544G>T	c.(1543-1545)aGa>aTa	p.R515I	AFTPH_ENST00000409933.1_Missense_Mutation_p.R515I|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Missense_Mutation_p.R146I|AFTPH_ENST00000238856.4_Missense_Mutation_p.R515I|AFTPH_ENST00000238855.7_Missense_Mutation_p.R515I			Q6ULP2	AFTIN_HUMAN	aftiphilin	515					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.R515I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CAATTGGCAAGAAAATCTAGT	0.373																																					p.R515I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1544T	2						.						88.0	91.0	90.0					2																	64780152		2203	4299	6502	64633656	SO:0001583	missense	54812	exon2			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1544G>T	2.37:g.64780152G>T	ENSP00000397726:p.Arg515Ile		64633656	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	14.94	2.685410	0.47991	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.47177	1.83;1.84;1.84;1.84;0.85	6.06	6.06	0.98353	.	0.291376	0.37219	N	0.002189	T	0.44603	0.1301	L	0.43152	1.355	0.37550	D	0.918645	P;P;P;P	0.40875	0.731;0.731;0.731;0.731	B;B;B;B	0.41088	0.347;0.347;0.347;0.347	T	0.45862	-0.9232	10	0.38643	T	0.18	-1.7644	15.1989	0.73120	0.0:0.1398:0.8602:0.0	.	515;515;515;515	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	I	515;515;515;515;146	ENSP00000238856:R515I;ENSP00000397726:R515I;ENSP00000238855:R515I;ENSP00000387071:R515I;ENSP00000386913:R146I	ENSP00000238855:R515I	R	+	2	0	AFTPH	64633656	0.441000	0.25626	1.000000	0.80357	0.983000	0.72400	2.237000	0.43061	2.880000	0.98712	0.650000	0.86243	AGA		0.373	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
CEP68	23177	broad.mit.edu	37	2	65298992	65298992	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:65298992C>A	ENST00000377990.2	+	3	965	c.762C>A	c.(760-762)ttC>ttA	p.F254L	CEP68_ENST00000546106.1_Missense_Mutation_p.F254L|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.F254L|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	254					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.F254L(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCTGTGTTCTCTGGGGGTG	0.647																																					p.F254L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C762A	2						.						78.0	86.0	83.0					2																	65298992		2203	4300	6503	65152496	SO:0001583	missense	23177	exon3			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.762C>A	2.37:g.65298992C>A	ENSP00000367229:p.Phe254Leu		65152496	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824964	0.71143	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.13420	2.59;2.59;2.59	5.79	-0.918	0.10482	.	1.317480	0.05053	N	0.478506	T	0.07999	0.0200	N	0.19112	0.55	0.18873	N	0.999984	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.38972	-0.9636	10	0.11182	T	0.66	1.0223	6.289	0.21049	0.0:0.3453:0.3175:0.3372	.	242;254;254;254;254	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	L	254;254;254;242	ENSP00000367229:F254L;ENSP00000438306:F254L;ENSP00000260569:F254L	ENSP00000260569:F254L	F	+	3	2	CEP68	65152496	0.000000	0.05858	0.001000	0.08648	0.876000	0.50452	-0.138000	0.10374	-0.502000	0.06596	0.591000	0.81541	TTC		0.647	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147	
SPRED2	200734	broad.mit.edu	37	2	65561755	65561755	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:65561755G>A	ENST00000356388.4	-	3	546	c.357C>T	c.(355-357)atC>atT	p.I119I	SPRED2_ENST00000443619.2_Silent_p.I116I|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	119	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.I119I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TAAGGTCTTCGATTGCTTTCC	0.408																																					p.I119I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357T	2						.						152.0	139.0	144.0					2																	65561755		2203	4300	6503	65415259	SO:0001819	synonymous_variant	200734	exon3			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.357C>T	2.37:g.65561755G>A			65415259	NM_181784	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	CCDS33211.1																																																																																				0.408	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1		
PPP3R1	5534	broad.mit.edu	37	2	68413766	68413766	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:68413766T>C	ENST00000234310.3	-	5	702	c.299A>G	c.(298-300)gAc>gGc	p.D100G	PPP3R1_ENST00000409377.1_Missense_Mutation_p.D90G|RP11-474G23.1_ENST00000406334.3_Missense_Mutation_p.D90G|PPP3R1_ENST00000409752.1_Missense_Mutation_p.D119G	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	100	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904)	p.D100G(1)		large_intestine(1)	1						TTTATCCATGTCATAGATACG	0.338																																					p.D100G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A299G	2						.						78.0	67.0	71.0					2																	68413766		1951	4211	6162	68267270	SO:0001583	missense	5534	exon5			M30773	CCDS46310.1	2p14	2013-01-10	2010-04-14		ENSG00000221823	ENSG00000221823	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing"""	9317	protein-coding gene	gene with protein product	"""calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"""	601302	"""protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"""			8978785, 2558868	Standard	NM_000945		Approved	CALNB1, CNB, CNB1	uc002sei.1	P63098	OTTHUMG00000129561	ENST00000234310.3:c.299A>G	2.37:g.68413766T>C	ENSP00000234310:p.Asp100Gly		68267270	NM_000945	B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0	Missense_Mutation	SNP	ENST00000234310.3	37	CCDS46310.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766354	0.90020	.	.	ENSG00000221823	ENST00000234310;ENST00000409752;ENST00000409377	D;D;D	0.95821	-3.82;-3.82;-3.82	5.76	5.76	0.90799	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	H	0.98089	4.145	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.99731	1.1012	10	0.87932	D	0	.	16.0678	0.80897	0.0:0.0:0.0:1.0	.	100	P63098	CANB1_HUMAN	G	100;119;90	ENSP00000234310:D100G;ENSP00000387216:D119G;ENSP00000387148:D90G	ENSP00000234310:D100G	D	-	2	0	PPP3R1	68267270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.958000	0.87877	2.198000	0.70561	0.477000	0.44152	GAC		0.338	PPP3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326765.4	NM_000945	
CNRIP1	25927	broad.mit.edu	37	2	68544315	68544315	+	Missense_Mutation	SNP	G	G	A	rs139324099		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:68544315G>A	ENST00000263655.3	-	2	909	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	CNRIP1_ENST00000409559.3_Missense_Mutation_p.R102W|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.R102W	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	102								p.R102W(4)		kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGGGTTGCCGTTCTCCACTC	0.478																																					p.R102W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C304T	2						.	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	192.0	164.0	174.0		304,304	4.9	1.0	2	dbSNP_134	174	0,8600		0,0,4300	no	missense,missense	CNRIP1	NM_001111101.1,NM_015463.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	102/129,102/165	68544315	1,13005	2203	4300	6503	68397819	SO:0001583	missense	25927	exon2			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.304C>T	2.37:g.68544315G>A	ENSP00000263655:p.Arg102Trp		68397819	NM_015463	B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204907	0.79127	2.27E-4	0.0	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71978	-0.4429	9	0.87932	D	0	-7.7262	11.1633	0.48528	0.0:0.0:0.7675:0.2325	.	102;102;102	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	W	102	.	ENSP00000263655:R102W	R	-	1	2	CNRIP1	68397819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.442000	0.52900	2.697000	0.92050	0.555000	0.69702	CGG		0.478	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463	
PROKR1	10887	broad.mit.edu	37	2	68882144	68882144	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:68882144C>T	ENST00000303786.3	+	3	1038	c.618C>T	c.(616-618)ctC>ctT	p.L206L	PROKR1_ENST00000394342.2_Silent_p.L206L			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	206					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.L206L(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGACGGTCCTCGTCATTGTCA	0.542																																					p.L206L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C618T	2						.						169.0	148.0	155.0					2																	68882144		2203	4300	6503	68735648	SO:0001819	synonymous_variant	10887	exon2			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.618C>T	2.37:g.68882144C>T			68735648	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	CCDS1889.1																																																																																				0.542	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
ARHGAP25	9938	broad.mit.edu	37	2	69040533	69040533	+	Silent	SNP	G	G	A	rs80302163	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:69040533G>A	ENST00000295381.3	+	6	1205	c.786G>A	c.(784-786)acG>acA	p.T262T	ARHGAP25_ENST00000409202.3_Silent_p.T263T|ARHGAP25_ENST00000409030.3_Silent_p.T255T|ARHGAP25_ENST00000544262.1_Silent_p.T237T|ARHGAP25_ENST00000467265.1_Silent_p.T223T|ARHGAP25_ENST00000497079.1_Silent_p.T256T|ARHGAP25_ENST00000409220.1_Silent_p.T256T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	262	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.T256T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGCAGCTCACGAATGCGGATG	0.522													G|||	8	0.00159744	0.0045	0.0029	5008	,	,		19852	0.0		0.0	False		,,,				2504	0.0				p.T256T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G768A	2						.	G	,,,	5,4401	11.4+/-27.6	0,5,2198	109.0	93.0	98.0		789,768,669,765	5.0	1.0	2	dbSNP_132	98	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	,,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,,	263/647,256/640,223/607,255/639	69040533	5,13001	2203	4300	6503	68894037	SO:0001819	synonymous_variant	9938	exon5			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.786G>A	2.37:g.69040533G>A			68894037	NM_001166276	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	1.291	-0.607612	0.03717	0.001135	0.0	ENSG00000163219	ENST00000497259	.	.	.	5.85	4.96	0.65561	.	.	.	.	.	T	0.65719	0.2718	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69412	-0.5152	4	.	.	.	.	15.9239	0.79597	0.0:0.1352:0.8648:0.0	.	.	.	.	Q	122	.	.	R	+	2	0	ARHGAP25	68894037	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	2.939000	0.48995	1.452000	0.47756	0.655000	0.94253	CGA		0.522	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
BMP10	27302	broad.mit.edu	37	2	69092820	69092820	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:69092820G>A	ENST00000295379.1	-	2	1376	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	406					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.V406V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGTAGGTGACGACGCCTTTGT	0.453																																					p.V406V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218T	2						.						146.0	146.0	146.0					2																	69092820		2203	4300	6503	68946324	SO:0001819	synonymous_variant	27302	exon2			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1218C>T	2.37:g.69092820G>A			68946324	NM_014482	Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	CCDS1890.1																																																																																				0.453	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482	
ASPRV1	151516	broad.mit.edu	37	2	70188127	70188127	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:70188127C>T	ENST00000320256.4	-	1	1270	c.694G>A	c.(694-696)Gat>Aat	p.D232N	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000596259.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.D232N(2)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GTGTCCAGATCGCCATCAGTG	0.567																																					p.D232N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G694A	2						.						87.0	83.0	84.0					2																	70188127		2203	4300	6503	70041631	SO:0001583	missense	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.694G>A	2.37:g.70188127C>T	ENSP00000315383:p.Asp232Asn		70041631	NM_152792		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455312	0.43634	.	.	ENSG00000244617	ENST00000320256	T	0.44881	0.91	5.17	5.17	0.71159	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.256890	0.25472	N	0.030430	T	0.41419	0.1158	N	0.08118	0	0.19300	N	0.999971	D	0.64830	0.994	P	0.61940	0.896	T	0.38929	-0.9638	10	0.62326	D	0.03	-13.3014	14.0399	0.64669	0.0:1.0:0.0:0.0	.	232	Q53RT3	APRV1_HUMAN	N	232	ENSP00000315383:D232N	ENSP00000315383:D232N	D	-	1	0	ASPRV1	70041631	0.573000	0.26676	0.082000	0.20525	0.316000	0.28119	3.856000	0.55964	2.676000	0.91093	0.655000	0.94253	GAT		0.567	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792	
TIA1	7072	broad.mit.edu	37	2	70444051	70444051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:70444051G>A	ENST00000433529.2	-	8	760	c.550C>T	c.(550-552)Cga>Tga	p.R184*	C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Nonsense_Mutation_p.R184*|TIA1_ENST00000282574.4_Nonsense_Mutation_p.R184*|TIA1_ENST00000482876.1_5'UTR|TIA1_ENST00000445587.1_Nonsense_Mutation_p.R173*|TIA1_ENST00000415783.2_Nonsense_Mutation_p.R173*	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	184	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.R184*(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GGAGGCTTTCGGGTTGCCCAG	0.423																																					p.R173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C517T	2						.						224.0	227.0	226.0					2																	70444051		2203	4300	6503	70297555	SO:0001587	stop_gained	7072	exon7				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.550C>T	2.37:g.70444051G>A	ENSP00000401371:p.Arg184*		70297555	NM_022037	Q53SS9	Nonsense_Mutation	SNP	ENST00000433529.2	37	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	G	36	5.832065	0.97003	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587;ENST00000416149	.	.	.	5.67	4.77	0.60923	.	0.048556	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9723	12.3701	0.55250	0.0:0.0:0.5908:0.4092	.	.	.	.	X	184;173;222;184;173;184	.	ENSP00000282574:R184X	R	-	1	2	TIA1	70297555	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.622000	0.36997	1.478000	0.48253	0.655000	0.94253	CGA		0.423	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037	
ADD2	119	broad.mit.edu	37	2	70900018	70900018	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:70900018G>A	ENST00000264436.4	-	15	2306	c.1862C>T	c.(1861-1863)tCt>tTt	p.S621F	ADD2_ENST00000407644.2_Missense_Mutation_p.S621F|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	621					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.S621F(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACCCTCTAAAGACTTGGAAGG	0.587																																					p.S621F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1862T	2						.						43.0	37.0	39.0					2																	70900018		2203	4300	6503	70753526	SO:0001583	missense	119	exon15			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1862C>T	2.37:g.70900018G>A	ENSP00000264436:p.Ser621Phe		70753526	NM_001185054	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353385	0.41700	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.06528	3.29;3.29	5.97	4.17	0.49024	.	1.003210	0.08030	N	0.993318	T	0.06371	0.0164	L	0.34521	1.04	0.34941	D	0.750317	B;P	0.35923	0.306;0.528	B;B	0.29785	0.107;0.107	T	0.26326	-1.0106	10	0.59425	D	0.04	-0.6813	10.0796	0.42381	0.1609:0.0:0.8391:0.0	.	621;621	Q05DK5;P35612	.;ADDB_HUMAN	F	621;621;373	ENSP00000264436:S621F;ENSP00000384677:S621F	ENSP00000264436:S621F	S	-	2	0	ADD2	70753526	0.992000	0.36948	0.282000	0.24776	0.979000	0.70002	2.823000	0.48081	1.531000	0.49152	0.655000	0.94253	TCT		0.587	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
ADD2	119	broad.mit.edu	37	2	70900409	70900409	+	Intron	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:70900409G>T	ENST00000264436.4	-	15	2186				ADD2_ENST00000407644.2_Intron|ADD2_ENST00000355733.3_Missense_Mutation_p.F597L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.F597L(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CAACGCTGAAGAACTCGCACA	0.537																																					p.F597L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1791A	2						.						85.0	80.0	82.0					2																	70900409		2203	4300	6503	70753917	SO:0001627	intron_variant	119	exon15			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1742-271C>A	2.37:g.70900409G>T			70753917	NM_017488	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	6.573	0.473962	0.12521	.	.	ENSG00000075340	ENST00000355733	T	0.05786	3.39	2.38	1.35	0.21983	.	.	.	.	.	T	0.02494	0.0076	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	8	0.08599	T	0.76	.	3.0178	0.06065	0.4352:0.0:0.5648:0.0	.	597	P35612-3	.	L	597	ENSP00000347972:F597L	ENSP00000347972:F597L	F	-	3	2	ADD2	70753917	0.003000	0.15002	0.002000	0.10522	0.030000	0.12068	0.125000	0.15749	0.427000	0.26145	0.460000	0.39030	TTC		0.537	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
ATP6V1B1	525	broad.mit.edu	37	2	71189973	71189973	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:71189973G>T	ENST00000234396.4	+	9	925	c.852G>T	c.(850-852)gaG>gaT	p.E284D	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E284D|RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	284					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|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 plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.E284D(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						ACCAGTGTGAGAAGCATGTGC	0.577																																					p.E284D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G852T	2						.						144.0	125.0	132.0					2																	71189973		2203	4300	6503	71043481	SO:0001583	missense	525	exon9			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.852G>T	2.37:g.71189973G>T	ENSP00000234396:p.Glu284Asp		71043481	NM_001692	Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506953	0.64410	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	T;T	0.81078	-1.45;-1.45	5.41	5.41	0.78517	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.073219	0.50627	D	0.000109	T	0.70631	0.3246	L	0.28115	0.83	0.80722	D	1	B;B;B	0.16802	0.001;0.019;0.008	B;B;B	0.23150	0.03;0.044;0.013	T	0.64698	-0.6346	10	0.14252	T	0.57	-11.1079	16.6868	0.85310	0.0:0.0:1.0:0.0	.	259;284;284	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	D	284;259;284	ENSP00000234396:E284D;ENSP00000388353:E284D	ENSP00000234396:E284D	E	+	3	2	ATP6V1B1	71043481	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.713000	0.74686	2.555000	0.86185	0.650000	0.86243	GAG		0.577	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692	
NAGK	55577	broad.mit.edu	37	2	71300652	71300652	+	Silent	SNP	C	C	T	rs144182116		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:71300652C>T	ENST00000244204.6	+	6	569	c.507C>T	c.(505-507)gaC>gaT	p.D169D	NAGK_ENST00000418807.3_Silent_p.D118D|NAGK_ENST00000443872.2_Silent_p.D21D|NAGK_ENST00000455662.2_Silent_p.D215D|NAGK_ENST00000443938.2_Silent_p.D169D			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	169					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.D169D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TAGTGTTTGACTCCATTGACA	0.527																																					p.D215D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645T	2						.	C		2,4404	4.2+/-10.8	0,2,2201	328.0	316.0	320.0		645	4.2	1.0	2	dbSNP_134	320	0,8600		0,0,4300	no	coding-synonymous	NAGK	NM_017567.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		215/391	71300652	2,13004	2203	4300	6503	71154160	SO:0001819	synonymous_variant	55577	exon6			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.507C>T	2.37:g.71300652C>T			71154160	NM_017567	B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Silent	SNP	ENST00000244204.6	37		.	.	.	.	.	.	.	.	.	.	C	9.826	1.187107	0.21870	4.54E-4	0.0	ENSG00000124357	ENST00000443938	.	.	.	6.06	4.25	0.50352	.	.	.	.	.	T	0.62901	0.2466	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59674	-0.7410	4	.	.	.	-18.3535	11.6574	0.51325	0.0:0.8672:0.0:0.1328	.	.	.	.	I	191	.	.	T	+	2	0	NAGK	71154160	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	0.618000	0.24373	0.875000	0.35847	0.655000	0.94253	ACT		0.527	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1		
MPHOSPH10	10199	broad.mit.edu	37	2	71360606	71360606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:71360606G>A	ENST00000244230.2	+	2	1020	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.R223Q	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	223					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.R223Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAAGAGGAACGAAAAGATGAT	0.343																																					p.R223Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G668A	2						.						67.0	74.0	72.0					2																	71360606		2203	4299	6502	71214114	SO:0001583	missense	10199	exon2			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.668G>A	2.37:g.71360606G>A	ENSP00000244230:p.Arg223Gln		71214114	NM_005791	A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	1.874	-0.459551	0.04508	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10960	2.82;2.82	5.04	-2.85	0.05734	.	0.991636	0.08207	N	0.981292	T	0.05640	0.0148	N	0.21545	0.675	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.45934	-0.9227	10	0.14252	T	0.57	.	5.0243	0.14376	0.4921:0.27:0.2379:0.0	.	223;223	B3KPV5;O00566	.;MPP10_HUMAN	Q	223;83	ENSP00000244230:R223Q;ENSP00000393034:R83Q	ENSP00000244230:R223Q	R	+	2	0	MPHOSPH10	71214114	0.159000	0.22864	0.000000	0.03702	0.190000	0.23558	2.301000	0.43628	-0.560000	0.06102	-0.678000	0.03780	CGA		0.343	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791	
ZNF638	27332	broad.mit.edu	37	2	71631047	71631047	+	Missense_Mutation	SNP	T	T	G	rs201755857		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:71631047T>G	ENST00000409544.1	+	17	3507	c.2877T>G	c.(2875-2877)ttT>ttG	p.F959L	ZNF638_ENST00000355812.3_Missense_Mutation_p.F959L|ZNF638_ENST00000264447.4_Missense_Mutation_p.F959L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	959	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F959L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGGTAAAATTTTATACCTGCT	0.303																																					p.F959L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2877G	2						.						98.0	113.0	108.0					2																	71631047		2203	4300	6503	71484555	SO:0001583	missense	27332	exon17			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2877T>G	2.37:g.71631047T>G	ENSP00000386433:p.Phe959Leu		71484555	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038362	0.75617	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.60548	0.18;1.21;1.21	5.12	5.12	0.69794	.	0.000000	0.50627	D	0.000120	T	0.70037	0.3178	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.61697	0.982;0.982;0.99;0.982	D;D;D;D	0.72982	0.952;0.961;0.979;0.952	T	0.68674	-0.5346	10	0.33940	T	0.23	-14.5756	11.3145	0.49383	0.0:0.0:0.0:1.0	.	959;959;959;959	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	L	538;959;959;959	ENSP00000348066:F959L;ENSP00000264447:F959L;ENSP00000386433:F959L	ENSP00000264447:F959L	F	+	3	2	ZNF638	71484555	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.211000	0.58507	1.925000	0.55765	0.528000	0.53228	TTT		0.303	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
DYSF	8291	broad.mit.edu	37	2	71816813	71816813	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:71816813G>A	ENST00000258104.3	+	31	3716	c.3439G>A	c.(3439-3441)Gac>Aac	p.D1147N	DYSF_ENST00000413539.2_Missense_Mutation_p.D1178N|DYSF_ENST00000409366.1_Missense_Mutation_p.D1148N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1134N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1164N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1164N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.D1147N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1179N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1148N|DYSF_ENST00000410020.3_Missense_Mutation_p.D1165N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1165N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1147	C2 4. {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.D1147N(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						CTGCATATTCGACTGTAAGTG	0.507																																					p.D1179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3535A	2						.						251.0	194.0	213.0					2																	71816813		2203	4300	6503	71670321	SO:0001583	missense	8291	exon32			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.3439G>A	2.37:g.71816813G>A	ENSP00000258104:p.Asp1147Asn		71670321	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	20.8	4.046674	0.75846	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.7;-1.71;-1.71;-1.7;-1.71;-1.7;-1.7;-1.7;-1.7	5.09	5.09	0.68999	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	M	0.61703	1.905	0.50632	D	0.999884	D;D;D;D;P;P;P;P;D;B;P;D;D;D	0.76494	0.998;0.998;0.995;0.995;0.678;0.678;0.678;0.857;0.999;0.354;0.614;0.991;0.997;0.992	P;P;P;P;B;B;B;B;D;B;B;P;D;P	0.63793	0.819;0.819;0.819;0.819;0.261;0.261;0.261;0.261;0.918;0.06;0.144;0.819;0.918;0.664	D	0.86288	0.1672	10	0.33141	T	0.24	-33.9933	14.339	0.66611	0.0:0.0:1.0:0.0	.	1179;1165;1148;1134;1165;1134;1164;1133;1178;1164;1147;1133;1148;1147	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	N	1178;1164;1164;1147;1147;1179;1148;1134;1148;1165;1165	ENSP00000407046:D1178N;ENSP00000387137:D1164N;ENSP00000386547:D1164N;ENSP00000398305:D1147N;ENSP00000258104:D1147N;ENSP00000386683:D1179N;ENSP00000377678:D1148N;ENSP00000386285:D1134N;ENSP00000386512:D1148N;ENSP00000386881:D1165N;ENSP00000386617:D1165N	ENSP00000258104:D1147N	D	+	1	0	DYSF	71670321	1.000000	0.71417	0.984000	0.44739	0.391000	0.30476	8.189000	0.89712	2.517000	0.84864	0.561000	0.74099	GAC		0.507	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
SMYD5	10322	broad.mit.edu	37	2	73447196	73447196	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:73447196A>G	ENST00000389501.4	+	3	268	c.223A>G	c.(223-225)Agg>Ggg	p.R75G	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	75	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R75G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCACTGCCTTAGGGCACTAGA	0.567																																					p.R75G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A223G	2						.						76.0	75.0	76.0					2																	73447196		2035	4188	6223	73300704	SO:0001583	missense	10322	exon3			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.223A>G	2.37:g.73447196A>G	ENSP00000374152:p.Arg75Gly		73300704	NM_006062	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894338	0.52121	.	.	ENSG00000135632	ENST00000389501;ENST00000443900	T	0.51325	0.71	5.38	2.41	0.29592	SET domain (2);	0.109105	0.64402	N	0.000005	T	0.54598	0.1868	M	0.67569	2.06	0.51012	D	0.999901	P	0.46064	0.872	P	0.50270	0.636	T	0.56402	-0.7985	10	0.39692	T	0.17	-17.3904	13.4869	0.61371	0.407:0.593:0.0:0.0	.	75	Q6GMV2	SMYD5_HUMAN	G	75;48	ENSP00000374152:R75G	ENSP00000374152:R75G	R	+	1	2	SMYD5	73300704	1.000000	0.71417	0.986000	0.45419	0.967000	0.64934	2.841000	0.48223	0.752000	0.32923	-0.864000	0.03007	AGG		0.567	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
ALMS1	7840	broad.mit.edu	37	2	73635812	73635812	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:73635812A>C	ENST00000264448.6	+	2	498	c.387A>C	c.(385-387)caA>caC	p.Q129H	ALMS1_ENST00000409009.1_Intron|ALMS1_ENST00000377715.1_Missense_Mutation_p.Q129H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	129					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.Q129H(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						GTAGAACACAAATTTCTGATA	0.373																																					p.Q129H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A387C	2						.						140.0	128.0	132.0					2																	73635812		1857	4112	5969	73489320	SO:0001583	missense	7840	exon2			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.387A>C	2.37:g.73635812A>C	ENSP00000264448:p.Gln129His		73489320	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426879	0.25726	.	.	ENSG00000116127	ENST00000264448;ENST00000377715	T;T	0.18174	3.11;2.23	3.71	-3.31	0.04988	.	0.231155	0.22210	N	0.063105	T	0.08537	0.0212	N	0.22421	0.69	0.09310	N	1	B	0.21452	0.056	B	0.20767	0.031	T	0.13953	-1.0490	10	0.87932	D	0	.	4.8201	0.13387	0.5357:0.0:0.3117:0.1525	.	129	Q8TCU4	ALMS1_HUMAN	H	129	ENSP00000264448:Q129H;ENSP00000366944:Q129H	ENSP00000264448:Q129H	Q	+	3	2	ALMS1	73489320	0.748000	0.28294	0.180000	0.23079	0.128000	0.20619	-0.275000	0.08525	-0.795000	0.04462	-0.385000	0.06624	CAA		0.373	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73718041	73718041	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:73718041T>C	ENST00000264448.6	+	10	9063	c.8952T>C	c.(8950-8952)ttT>ttC	p.F2984F	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Silent_p.F2942F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2984					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.F2984F(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						AACACCATTTTCCCCTTCCTC	0.393																																					p.F2984F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T8952C	2						.						119.0	113.0	115.0					2																	73718041		1895	4111	6006	73571549	SO:0001819	synonymous_variant	7840	exon10			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.8952T>C	2.37:g.73718041T>C			73571549	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73718581	73718581	+	Silent	SNP	C	C	T	rs45607436		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:73718581C>T	ENST00000264448.6	+	10	9603	c.9492C>T	c.(9490-9492)ttC>ttT	p.F3164F	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Silent_p.F3122F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3164					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.F3164F(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						TTTCAGATTTCGAAGGACATT	0.418													c|||	1	0.000199681	0.0	0.0	5008	,	,		20502	0.0		0.001	False		,,,				2504	0.0				p.F3164F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9492T	2						.						67.0	65.0	66.0					2																	73718581		1846	4097	5943	73572089	SO:0001819	synonymous_variant	7840	exon10			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.9492C>T	2.37:g.73718581C>T			73572089	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73828334	73828334	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:73828334T>G	ENST00000264448.6	+	19	11993	c.11882T>G	c.(11881-11883)tTt>tGt	p.F3961C	ALMS1_ENST00000409009.1_Missense_Mutation_p.F3919C|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3961					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.F3961C(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						GTTTCCTGGTTTGTTCCTGTG	0.423																																					p.F3961C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T11882G	2						.						99.0	108.0	105.0					2																	73828334		2186	4297	6483	73681842	SO:0001583	missense	7840	exon19			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.11882T>G	2.37:g.73828334T>G	ENSP00000264448:p.Phe3961Cys		73681842	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743047	0.69418	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.12984	2.64;2.63	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000014	T	0.30135	0.0755	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.01553	-1.1326	10	0.87932	D	0	.	13.0184	0.58771	0.0:0.0:0.0:1.0	.	3919;3961	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	C	3919;3961	ENSP00000386627:F3919C;ENSP00000264448:F3961C	ENSP00000264448:F3961C	F	+	2	0	ALMS1	73681842	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.534000	0.67167	2.182000	0.69389	0.459000	0.35465	TTT		0.423	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
Unknown	0	broad.mit.edu	37	2	73928311	73928311	+	IGR	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:73928311C>T								ALMS1P (15608 upstream) : TPRKB (28645 downstream)																							TATGAGGGTTCGAGGCAGCTT	0.622																																					p.R41Q												.	.	0			c.G122A	2						.						67.0	74.0	72.0					2																	73928311		2202	4300	6502	73781819	SO:0001628	intergenic_variant	51471	exon1																															2.37:g.73928311C>T			73781819	NM_016347		Missense_Mutation	SNP		37																																																																																				0	0.622								
MTHFD2	10797	broad.mit.edu	37	2	74437140	74437140	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:74437140T>C	ENST00000394053.2	+	5	714	c.634T>C	c.(634-636)Tta>Cta	p.L212L	MTHFD2_ENST00000394050.3_Silent_p.L48L|MTHFD2_ENST00000409601.1_Silent_p.L171L|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Silent_p.L110L	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	212					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)	p.L212L(1)|p.L110L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	CATTGCAATGTTACTGCACAC	0.428																																					p.L212L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T634C	2						.						78.0	81.0	80.0					2																	74437140		1904	4122	6026	74290648	SO:0001819	synonymous_variant	10797	exon5			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.634T>C	2.37:g.74437140T>C			74290648	NM_006636	Q53G90|Q53GV5|Q53S36|Q7Z650	Silent	SNP	ENST00000394053.2	37	CCDS1935.2																																																																																				0.428	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2		
DCTN1	1639	broad.mit.edu	37	2	74590132	74590132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:74590132C>T	ENST00000361874.3	-	29	3835	c.3518G>A	c.(3517-3519)cGc>cAc	p.R1173H	DCTN1_ENST00000409868.1_Missense_Mutation_p.R1151H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R1131H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R1039H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R1034H|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409567.3_Missense_Mutation_p.R1148H|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.R86H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R1166H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.R1173H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGGGCTGGTGCGAGTGATGTC	0.557																																					p.R1039H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3116A	2						.						113.0	97.0	103.0					2																	74590132		2203	4300	6503	74443640	SO:0001583	missense	1639	exon24				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3518G>A	2.37:g.74590132C>T	ENSP00000354791:p.Arg1173His		74443640	NM_023019	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392417	0.42410	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.98	4.08	0.47627	.	0.269317	0.20589	N	0.089388	T	0.50769	0.1635	N	0.02539	-0.55	0.19300	N	0.999974	B;B;B;B;B;B;B	0.10296	0.0;0.003;0.0;0.002;0.001;0.0;0.001	B;B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.001;0.001;0.001	T	0.34850	-0.9812	10	0.27785	T	0.31	-5.0208	9.2315	0.37439	0.0:0.8321:0.0:0.1679	.	1148;1131;1173;1166;1039;1034;1156	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	H	1173;1166;1156;1039;1034;1131;1151;1148	ENSP00000354791:R1173H;ENSP00000377571:R1166H;ENSP00000384844:R1039H;ENSP00000387270:R1034H;ENSP00000386406:R1131H;ENSP00000387327:R1151H;ENSP00000386843:R1148H	ENSP00000354791:R1173H	R	-	2	0	DCTN1	74443640	0.850000	0.29656	0.952000	0.39060	0.952000	0.60782	2.480000	0.45206	2.574000	0.86865	0.655000	0.94253	CGC		0.557	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082	
DCTN1	1639	broad.mit.edu	37	2	74594189	74594189	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:74594189G>A	ENST00000361874.3	-	20	2616	c.2299C>T	c.(2299-2301)Ctg>Ttg	p.L767L	DCTN1_ENST00000409868.1_Silent_p.L750L|DCTN1_ENST00000409240.1_Silent_p.L730L|DCTN1_ENST00000407639.2_Silent_p.L633L|DCTN1_ENST00000409438.1_Silent_p.L633L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Silent_p.L747L|DCTN1_ENST00000394003.3_Silent_p.L760L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	767					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.L767L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AAGGCACGCAGCCGTCCTACC	0.517																																					p.L633L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1897T	2						.						88.0	73.0	78.0					2																	74594189		2203	4300	6503	74447697	SO:0001819	synonymous_variant	1639	exon15				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2299C>T	2.37:g.74594189G>A			74447697	NM_023019	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	CCDS1939.1																																																																																				0.517	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082	
INO80B	83444	broad.mit.edu	37	2	74683363	74683363	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:74683363G>T	ENST00000233331.7	+	4	598	c.504G>T	c.(502-504)aaG>aaT	p.K168N	WBP1_ENST00000233615.2_5'Flank|INO80B_ENST00000409917.1_Missense_Mutation_p.K168N|INO80B_ENST00000469849.1_3'UTR|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	168					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.K155N(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GAGACCTCAAGAAGGAGATCA	0.517																																					p.K168N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G504T	2						.						157.0	138.0	144.0					2																	74683363		2203	4300	6503	74536871	SO:0001583	missense	83444	exon4			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.504G>T	2.37:g.74683363G>T	ENSP00000233331:p.Lys168Asn		74536871	NM_031288		Missense_Mutation	SNP	ENST00000233331.7	37	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403867	0.83230	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.55052	0.67;0.59;0.54;0.61	5.65	3.84	0.44239	.	0.098347	0.64402	D	0.000001	T	0.67590	0.2909	M	0.76574	2.34	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.998;0.998;0.997	D;D;D;D	0.80764	0.994;0.986;0.981;0.991	T	0.67221	-0.5725	10	0.41790	T	0.15	-30.0503	9.0135	0.36155	0.1735:0.0:0.8265:0.0	.	186;153;168;168	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	N	168;153;168;173	ENSP00000233331:K168N;ENSP00000389887:K153N;ENSP00000387267:K168N;ENSP00000386937:K173N	ENSP00000233331:K168N	K	+	3	2	INO80B	74536871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.974000	0.70465	1.399000	0.46721	0.555000	0.69702	AAG		0.517	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288	
PCGF1	84759	broad.mit.edu	37	2	74733988	74733988	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:74733988A>G	ENST00000233630.6	-	3	1134	c.223T>C	c.(223-225)Tac>Cac	p.Y75H	LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000603175.1_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	75					histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.Y63H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GTTTGGAGGTACTTCACAATA	0.517																																					p.Y75H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T223C	2						.						136.0	120.0	125.0					2																	74733988		2203	4300	6503	74587496	SO:0001583	missense	84759	exon3			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.223T>C	2.37:g.74733988A>G	ENSP00000233630:p.Tyr75His		74587496	NM_032673	Q7Z506	Missense_Mutation	SNP	ENST00000233630.6	37	CCDS1946.2	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974802	0.34848	.	.	ENSG00000115289	ENST00000233630	T	0.17213	2.29	5.69	4.53	0.55603	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	N	0.03294	-0.36	0.43054	D	0.994665	P	0.36438	0.553	P	0.50825	0.651	T	0.30297	-0.9983	10	0.07990	T	0.79	-16.9103	9.8224	0.40891	0.827:0.173:0.0:0.0	.	75	Q9BSM1	PCGF1_HUMAN	H	75	ENSP00000233630:Y75H	ENSP00000233630:Y75H	Y	-	1	0	PCGF1	74587496	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.851000	0.69481	0.968000	0.38212	-0.313000	0.08912	TAC		0.517	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	
LRRTM4	80059	broad.mit.edu	37	2	77746014	77746014	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:77746014C>A	ENST00000409093.1	-	3	1317	c.981G>T	c.(979-981)aaG>aaT	p.K327N	LRRTM4_ENST00000409088.3_Missense_Mutation_p.K327N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.K328N|LRRTM4_ENST00000409282.1_Missense_Mutation_p.K328N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.K327N			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	327	LRRCT.				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.K327N(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)		CTTTGAAATTCTTAAGCCAAT	0.383																																					p.K327N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G981T	2						.						40.0	37.0	38.0					2																	77746014		1861	4084	5945	77599522	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.981G>T	2.37:g.77746014C>A	ENSP00000386357:p.Lys327Asn		77599522	NM_024993	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952318	0.34471	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.73	4.67	0.58626	.	0.179666	0.51477	D	0.000084	T	0.08980	0.0222	L	0.50333	1.59	0.39585	D	0.969493	P;P;P	0.47910	0.82;0.734;0.902	P;P;P	0.50791	0.448;0.65;0.587	T	0.19549	-1.0302	10	0.25751	T	0.34	.	10.7319	0.46102	0.0:0.8378:0.0:0.1622	.	328;327;327	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	N	328;327;327;327;328	ENSP00000387228:K328N;ENSP00000387297:K327N;ENSP00000386357:K327N;ENSP00000386236:K327N;ENSP00000386286:K328N	ENSP00000386236:K327N	K	-	3	2	LRRTM4	77599522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.724000	0.25954	2.694000	0.91930	0.655000	0.94253	AAG		0.383	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
REG1A	5967	broad.mit.edu	37	2	79348754	79348754	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:79348754G>A	ENST00000233735.1	+	3	234	c.131G>A	c.(130-132)cGc>cAc	p.R44H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	44	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R44H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AATGCCTATCGCTCCTACTGC	0.537																																					p.R44H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G131A	2						.						176.0	173.0	174.0					2																	79348754		2203	4300	6503	79202262	SO:0001583	missense	5967	exon3				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.131G>A	2.37:g.79348754G>A	ENSP00000233735:p.Arg44His		79202262	NM_002909	P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	13.77	2.335656	0.41398	.	.	ENSG00000115386	ENST00000233735	T	0.08370	3.1	2.85	-1.6	0.08426	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.589271	0.14020	N	0.346859	T	0.07908	0.0198	L	0.58810	1.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26643	-1.0097	10	0.46703	T	0.11	.	5.4679	0.16654	0.0:0.33:0.3416:0.3284	.	44;44	A8K7G6;P05451	.;REG1A_HUMAN	H	44	ENSP00000233735:R44H	ENSP00000233735:R44H	R	+	2	0	REG1A	79202262	0.000000	0.05858	0.000000	0.03702	0.486000	0.33341	0.229000	0.17833	-0.396000	0.07703	0.563000	0.77884	CGC		0.537	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	
CTNNA2	1496	broad.mit.edu	37	2	80646682	80646682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:80646682G>T	ENST00000402739.4	+	8	1251	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	CTNNA2_ENST00000466387.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E95*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E416*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E450*	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	416					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E416*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAAGTGAAAGAATATGCCCA	0.448																																					p.E417X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1249T	2						.						115.0	114.0	114.0					2																	80646682		2038	4233	6271	80500193	SO:0001587	stop_gained	1496	exon9				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1246G>T	2.37:g.80646682G>T	ENSP00000384638:p.Glu416*		80500193	NM_004389	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Nonsense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	42	9.412172	0.99163	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	416;416;450;416;416;416;95;81	.	.	E	+	1	0	CTNNA2	80500193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GAA		0.448	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
POLR1A	25885	broad.mit.edu	37	2	86315956	86315956	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:86315956G>A	ENST00000263857.6	-	5	956	c.578C>T	c.(577-579)gCt>gTt	p.A193V	POLR1A_ENST00000409681.1_Missense_Mutation_p.A193V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	193					gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.A193V(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCAGAAGAGAGCAATGAGCTT	0.453																																					p.A193V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578T	2						.						132.0	129.0	130.0					2																	86315956		1974	4151	6125	86169467	SO:0001583	missense	25885	exon5			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.578C>T	2.37:g.86315956G>A	ENSP00000263857:p.Ala193Val		86169467	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588174	0.28357	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.66815	-0.23;-0.23	6.07	6.07	0.98685	RNA polymerase Rpb1, domain 1 (1);	0.265523	0.44097	D	0.000492	T	0.63965	0.2556	L	0.43152	1.355	0.09310	N	0.999992	P;B	0.35656	0.514;0.143	B;B	0.40329	0.326;0.175	T	0.59107	-0.7516	10	0.33940	T	0.23	-5.6881	15.7099	0.77620	0.0:0.1362:0.8638:0.0	.	193;193	B9ZVN9;O95602	.;RPA1_HUMAN	V	193	ENSP00000263857:A193V;ENSP00000386300:A193V	ENSP00000263857:A193V	A	-	2	0	POLR1A	86169467	0.244000	0.23889	0.019000	0.16419	0.027000	0.11550	3.196000	0.51020	2.885000	0.99019	0.655000	0.94253	GCT		0.453	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
CHMP3	51652	broad.mit.edu	37	2	86756490	86756490	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:86756490C>T	ENST00000263856.4	-	3	265	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	CHMP3_ENST00000409727.1_Missense_Mutation_p.R46Q|CHMP3_ENST00000409225.2_5'UTR|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.R75Q|CHMP3_ENST00000439940.2_Missense_Mutation_p.R75Q	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	46	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|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)		p.R46Q(1)									TTTCACAGATCGTTTCACTTT	0.408																																					p.R46Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137A	2						.						171.0	160.0	164.0					2																	86756490		2203	4300	6503	86610001	SO:0001583	missense	51652	exon3			AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.137G>A	2.37:g.86756490C>T	ENSP00000263856:p.Arg46Gln		86610001	NM_016079	A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751754	0.89753	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409727;ENST00000439940;ENST00000440757	T;D;T;T	0.88201	-0.53;-2.35;-0.53;-0.53	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.90604	0.7054	N	0.25647	0.755	0.80722	D	1	P;D;P	0.71674	0.646;0.998;0.87	B;D;B	0.75484	0.051;0.986;0.149	D	0.86021	0.1507	10	0.13470	T	0.59	-4.1735	20.6208	0.99490	0.0:1.0:0.0:0.0	.	75;46;46	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	Q	46;46;75;153	ENSP00000263856:R46Q;ENSP00000387045:R46Q;ENSP00000405575:R75Q;ENSP00000392995:R153Q	ENSP00000392995:R153Q	R	-	2	0	VPS24;RNF103-VPS24	86610001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.734000	0.84928	2.882000	0.98803	0.655000	0.94253	CGA		0.408	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079	
RNF103	7844	broad.mit.edu	37	2	86832111	86832111	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:86832111C>T	ENST00000237455.4	-	4	1881	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	305					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E305K(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GATATAAATTCGCCTGTGTGG	0.378																																					p.E301K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G901A	2						.						79.0	87.0	84.0					2																	86832111		2203	4300	6503	86685622	SO:0001583	missense	7844	exon5			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.913G>A	2.37:g.86832111C>T	ENSP00000237455:p.Glu305Lys		86685622	NM_001198951	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901796	0.72754	.	.	ENSG00000239305	ENST00000237455	T	0.61859	0.07	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.64997	1.995	0.80722	D	1	D	0.61080	0.989	P	0.44394	0.448	T	0.68922	-0.5281	10	0.87932	D	0	-15.3428	18.8478	0.92213	0.0:1.0:0.0:0.0	.	305	O00237	RN103_HUMAN	K	305	ENSP00000237455:E305K	ENSP00000237455:E305K	E	-	1	0	RNF103	86685622	1.000000	0.71417	0.979000	0.43373	0.905000	0.53344	7.525000	0.81892	2.468000	0.83385	0.460000	0.39030	GAA		0.378	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667	
CD8B	926	broad.mit.edu	37	2	87042763	87042763	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:87042763C>A	ENST00000349455.3	-	5	658	c.609G>T	c.(607-609)caG>caT	p.Q203H	CD8B_ENST00000331469.2_Missense_Mutation_p.Q233H|CD8B_ENST00000393759.2_3'UTR|CD8B_ENST00000393761.2_Missense_Mutation_p.R191I	NM_172102.3	NP_742100.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.Q233H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TAAGCAGCTTCTGTGAGGTTG	0.463																																					p.R191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572T	2						.						433.0	396.0	409.0					2																	87042763		2203	4300	6503	86896274	SO:0001583	missense	926	exon4				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000349455.3:c.609G>T	2.37:g.87042763C>A	ENSP00000340592:p.Gln203His		86896274	NM_001178100	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000349455.3	37	CCDS1994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.995|7.995	0.754143|0.754143	0.15778|0.15778	.|.	.|.	ENSG00000172116|ENSG00000172116	ENST00000349455;ENST00000331469;ENST00000534926|ENST00000393761	.|.	.|.	.|.	2.0|2.0	-0.372|-0.372	0.12520|0.12520	.|.	.|.	.|.	.|.	.|.	T|T	0.27629|0.27629	0.0679|0.0679	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.23490|0.15930	0.086;0.086|0.015	B;B|B	0.20184|0.09377	0.028;0.028|0.004	T|T	0.26608|0.26608	-1.0098|-1.0098	7|7	0.87932|0.87932	D|D	0|0	.|.	4.2047|4.2047	0.10483|0.10483	0.0:0.4356:0.0:0.5644|0.0:0.4356:0.0:0.5644	.|.	203;233|191	P10966-3;P10966-6|Q496E2	.;.|.	H|I	203;233;41|191	.|.	ENSP00000331172:Q233H|ENSP00000377358:R191I	Q|R	-|-	3|2	2|0	CD8B|CD8B	86896274|86896274	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	-0.168000|-0.168000	0.09925|0.09925	-0.091000|-0.091000	0.12440|0.12440	-0.377000|-0.377000	0.06932|0.06932	CAG|AGA		0.463	CD8B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252594.1	NM_172099	
TEX37	200523	broad.mit.edu	37	2	88828578	88828578	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:88828578G>T	ENST00000303254.3	+	4	271	c.129G>T	c.(127-129)aaG>aaT	p.K43N		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	43						nucleus (GO:0005634)		p.K43N(1)									AGCAGGCAAAGCTCGATGCTC	0.493																																					p.K43N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G129T	2						.						64.0	64.0	64.0					2																	88828578		2203	4300	6503	88609693	SO:0001583	missense	200523	exon4			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.129G>T	2.37:g.88828578G>T	ENSP00000307142:p.Lys43Asn		88609693	NM_152670		Missense_Mutation	SNP	ENST00000303254.3	37	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326913	0.41197	.	.	ENSG00000172073	ENST00000303254	T	0.56776	0.44	4.61	2.8	0.32819	.	0.000000	0.50627	D	0.000107	T	0.57681	0.2070	L	0.36672	1.1	0.29576	N	0.849496	D	0.76494	0.999	D	0.87578	0.998	T	0.53844	-0.8381	10	0.87932	D	0	-30.0509	6.8744	0.24139	0.2094:0.0:0.7906:0.0	.	43	Q96LM6	TSC21_HUMAN	N	43	ENSP00000307142:K43N	ENSP00000307142:K43N	K	+	3	2	C2orf51	88609693	0.998000	0.40836	0.875000	0.34327	0.403000	0.30841	2.503000	0.45407	0.675000	0.31264	0.462000	0.41574	AAG		0.493	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670	
MAL	4118	broad.mit.edu	37	2	95715346	95715346	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:95715346C>T	ENST00000309988.4	+	3	391	c.282C>T	c.(280-282)acC>acT	p.T94T	MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Silent_p.T38T|AC103563.9_ENST00000442200.1_RNA|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	94	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)	p.T94T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		ACCACTGCACCGCTGCCCTCT	0.622																																					p.T94T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282T	2						.						140.0	125.0	130.0					2																	95715346		2203	4300	6503	95079073	SO:0001819	synonymous_variant	4118	exon3				CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.282C>T	2.37:g.95715346C>T			95079073	NM_002371	Q6FH77	Silent	SNP	ENST00000309988.4	37	CCDS2006.1																																																																																				0.622	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371	
ZNF2	7549	broad.mit.edu	37	2	95843296	95843296	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:95843296A>G	ENST00000340539.5	+	3	564	c.102A>G	c.(100-102)atA>atG	p.I34M	ZNF2_ENST00000295210.6_Missense_Mutation_p.I34M|ZNF2_ENST00000425369.1_5'UTR|ZNF2_ENST00000398107.2_5'UTR|ZNF2_ENST00000453539.2_Missense_Mutation_p.I34M	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I34M(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGGTCCCCATACAGAGGGACC	0.473																																					p.I34M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A102G	2						.						143.0	145.0	144.0					2																	95843296		2031	4200	6231	95207023	SO:0001583	missense	7549	exon3			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.102A>G	2.37:g.95843296A>G	ENSP00000345392:p.Ile34Met		95207023	NM_021088	A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	A	8.306	0.820979	0.16678	.	.	ENSG00000163067	ENST00000340539;ENST00000295210;ENST00000453539	T;T;T	0.01725	4.67;4.67;4.67	5.07	-1.15	0.09709	Krueppel-associated box (4);	1.351400	0.04910	N	0.452967	T	0.01387	0.0045	N	0.17082	0.46	0.09310	N	0.999999	B;B	0.16802	0.006;0.019	B;B	0.17098	0.017;0.017	T	0.49062	-0.8978	10	0.62326	D	0.03	-0.2351	1.6619	0.02793	0.1378:0.1639:0.3793:0.319	.	34;34	B4DIR4;Q9BSG1	.;ZNF2_HUMAN	M	34	ENSP00000345392:I34M;ENSP00000295210:I34M;ENSP00000411051:I34M	ENSP00000295210:I34M	I	+	3	3	ZNF2	95207023	0.007000	0.16637	0.056000	0.19401	0.412000	0.31113	-0.222000	0.09190	-0.346000	0.08312	-1.367000	0.01198	ATA		0.473	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088	
ZNF2	7549	broad.mit.edu	37	2	95847829	95847829	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:95847829G>A	ENST00000340539.5	+	5	1718	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	ZNF2_ENST00000295210.6_Missense_Mutation_p.R381H|ZNF2_ENST00000425369.1_Missense_Mutation_p.R339H|ZNF2_ENST00000398107.2_Missense_Mutation_p.R377H|ZNF2_ENST00000453539.2_Missense_Mutation_p.R432H	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	419					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.R419H(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CATCAACGGCGTTACGCCAAA	0.463																																					p.R377H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1130A	2						.						66.0	65.0	65.0					2																	95847829		1969	4189	6158	95211556	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.1256G>A	2.37:g.95847829G>A	ENSP00000345392:p.Arg419His		95211556	NM_001017396	A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178208	0.38511	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.06933	3.24;3.4;3.27;3.38;3.36	5.06	5.06	0.68205	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000401	T	0.18341	0.0440	L	0.38692	1.165	0.32109	N	0.589586	D;D;D	0.89917	0.967;0.971;1.0	P;P;D	0.65987	0.451;0.474;0.94	T	0.01341	-1.1380	10	0.87932	D	0	-27.081	13.7967	0.63175	0.0:0.0:1.0:0.0	.	381;377;418	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	H	377;419;339;381;432	ENSP00000381178:R377H;ENSP00000345392:R419H;ENSP00000406017:R339H;ENSP00000295210:R381H;ENSP00000411051:R432H	ENSP00000295210:R381H	R	+	2	0	ZNF2	95211556	0.008000	0.16893	0.993000	0.49108	0.201000	0.24016	0.953000	0.29162	2.641000	0.89580	0.563000	0.77884	CGT		0.463	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088	
PROM2	150696	broad.mit.edu	37	2	95945632	95945632	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:95945632C>T	ENST00000317620.9	+	11	1447	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	PROM2_ENST00000403131.2_Silent_p.F438F|PROM2_ENST00000317668.4_Silent_p.F438F|PROM2_ENST00000542147.1_Silent_p.F438F	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	438					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.F438F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGGTCCTATTCGTGGTGCTCT	0.632																																					p.F438F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1314T	2						.						146.0	110.0	122.0					2																	95945632		2203	4300	6503	95309359	SO:0001819	synonymous_variant	150696	exon11			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1314C>T	2.37:g.95945632C>T			95309359	NM_144707	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	CCDS2012.1																																																																																				0.632	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707	
TRIM43	129868	broad.mit.edu	37	2	96260800	96260800	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:96260800G>T	ENST00000272395.2	+	3	550	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	138						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E138D(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TTTTGCAGGAGAAACTCTTAA	0.358																																					p.E138D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G414T	2						.						27.0	28.0	28.0					2																	96260800		2201	4295	6496	95624527	SO:0001583	missense	129868	exon3			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.414G>T	2.37:g.96260800G>T	ENSP00000272395:p.Glu138Asp		95624527	NM_138800	Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	11.56	1.676270	0.29783	.	.	ENSG00000144015	ENST00000272395	T	0.58060	0.36	0.629	-0.445	0.12242	.	.	.	.	.	T	0.63307	0.2500	M	0.70275	2.135	0.09310	N	1	D	0.71674	0.998	D	0.65684	0.937	T	0.52124	-0.8617	8	0.44086	T	0.13	-23.3278	.	.	.	.	138	Q96BQ3	TRI43_HUMAN	D	138	ENSP00000272395:E138D	ENSP00000272395:E138D	E	+	3	2	TRIM43	95624527	0.084000	0.21492	0.010000	0.14722	0.310000	0.27922	0.050000	0.14120	-0.178000	0.10672	0.375000	0.23000	GAG		0.358	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800	
SNRNP200	23020	broad.mit.edu	37	2	96952493	96952493	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:96952493G>A	ENST00000323853.5	-	28	3839	c.3762C>T	c.(3760-3762)ttC>ttT	p.F1254F	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1254	SEC63 1.				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.F1254F(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						CAGGCACGAAGAATGTAATGA	0.542																																					p.F1254F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3762T	2						.						142.0	136.0	138.0					2																	96952493		2203	4300	6503	96316220	SO:0001819	synonymous_variant	23020	exon28			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.3762C>T	2.37:g.96952493G>A			96316220	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																				0.542	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
SNRNP200	23020	broad.mit.edu	37	2	96965102	96965102	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:96965102C>T	ENST00000323853.5	-	6	771	c.694G>A	c.(694-696)Gac>Aac	p.D232N	SNRNP200_ENST00000349783.5_Missense_Mutation_p.D232N	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	232					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.D232N(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						ACAGCCTCGTCCCCTTCCATG	0.512																																					p.D232N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G694A	2						.						287.0	255.0	266.0					2																	96965102		2203	4300	6503	96328829	SO:0001583	missense	23020	exon6			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.694G>A	2.37:g.96965102C>T	ENSP00000317123:p.Asp232Asn		96328829	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999964	0.74818	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.41400	1.0;1.0	5.07	5.07	0.68467	.	0.154112	0.56097	D	0.000025	T	0.38904	0.1058	L	0.46157	1.445	0.58432	D	0.999992	B	0.19331	0.035	B	0.14023	0.01	T	0.12941	-1.0528	10	0.32370	T	0.25	-16.9053	17.375	0.87390	0.0:1.0:0.0:0.0	.	232	O75643	U520_HUMAN	N	232	ENSP00000317123:D232N;ENSP00000326937:D232N	ENSP00000317123:D232N	D	-	1	0	SNRNP200	96328829	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.223000	0.78033	2.629000	0.89072	0.555000	0.69702	GAC		0.512	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
KANSL3	55683	broad.mit.edu	37	2	97267478	97267478	+	Missense_Mutation	SNP	G	G	A	rs573222164		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:97267478G>A	ENST00000431828.1	-	20	2594	c.2518C>T	c.(2518-2520)Cgt>Tgt	p.R840C	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.R660C|KANSL3_ENST00000599854.1_Missense_Mutation_p.R753C|KANSL3_ENST00000441706.2_Intron			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	866					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCTGGCCACGAAGTGTCAGA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19427	0.0		0.0	False		,,,				2504	0.0				p.R840C												.	.	0			c.C2518T	2						.						51.0	55.0	54.0					2																	97267478		1946	4153	6099	96631205	SO:0001583	missense	55683	exon20			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2518C>T	2.37:g.97267478G>A	ENSP00000396749:p.Arg840Cys		96631205	NM_001115016	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768447	0.69878	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.65549	-0.16;0.01	5.81	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	N	0.19112	0.55	0.80722	D	1	B;B;D;D;B	0.76494	0.0;0.007;0.999;0.999;0.001	B;B;P;P;B	0.54924	0.0;0.003;0.649;0.764;0.0	T	0.56044	-0.8044	10	0.62326	D	0.03	.	5.6648	0.17689	0.1618:0.0:0.6816:0.1566	.	634;866;840;751;726	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	C	753;726;840;660;634	ENSP00000396749:R840C;ENSP00000406207:R660C	ENSP00000346144:R753C	R	-	1	0	KIAA1310	96631205	0.926000	0.31397	0.645000	0.29479	0.973000	0.67179	2.628000	0.46477	0.817000	0.34445	-0.136000	0.14681	CGT		0.552	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	
TMEM131	23505	broad.mit.edu	37	2	98375486	98375486	+	Missense_Mutation	SNP	G	G	A	rs372771505		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:98375486G>A	ENST00000186436.5	-	40	5465	c.5237C>T	c.(5236-5238)tCg>tTg	p.S1746L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1746	Ser-rich.					integral component of membrane (GO:0016021)		p.S1633L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGATTGCACGATCGAGATAA	0.483																																					p.S1746L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5237T	2						.	G	LEU/SER	1,4005		0,1,2002	92.0	98.0	96.0		5237	5.4	0.9	2		96	0,8360		0,0,4180	no	missense	TMEM131	NM_015348.1	145	0,1,6182	AA,AG,GG		0.0,0.025,0.0081	possibly-damaging	1746/1884	98375486	1,12365	2003	4180	6183	97741918	SO:0001583	missense	23505	exon40			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5237C>T	2.37:g.98375486G>A	ENSP00000186436:p.Ser1746Leu		97741918	NM_015348		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994739	0.54041	2.5E-4	0.0	ENSG00000075568	ENST00000186436	T	0.42513	0.97	5.37	5.37	0.77165	.	0.197193	0.45606	D	0.000359	T	0.40595	0.1123	L	0.29908	0.895	0.80722	D	1	P;D	0.63880	0.804;0.993	B;P	0.47891	0.213;0.56	T	0.15578	-1.0432	10	0.39692	T	0.17	-12.1351	17.6547	0.88174	0.0:0.0:1.0:0.0	.	1746;126	Q92545;Q0P631	TM131_HUMAN;.	L	1746	ENSP00000186436:S1746L	ENSP00000186436:S1746L	S	-	2	0	TMEM131	97741918	1.000000	0.71417	0.949000	0.38748	0.403000	0.30841	6.184000	0.72008	2.655000	0.90218	0.643000	0.83706	TCG		0.483	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	
VWA3B	200403	broad.mit.edu	37	2	98709561	98709561	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:98709561G>T	ENST00000477737.1	+	2	210	c.6G>T	c.(4-6)gaG>gaT	p.E2D	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.E2D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	2								p.E2D(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						CAGAGATGGAGAAATCAGGCC	0.443																																					p.E2D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6T	2						.						65.0	60.0	62.0					2																	98709561		1918	4147	6065	98075993	SO:0001583	missense	200403	exon2			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.6G>T	2.37:g.98709561G>T	ENSP00000417955:p.Glu2Asp		98075993	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261589	0.39995	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.39406	1.08;1.08	5.22	3.44	0.39384	.	0.216667	0.31809	N	0.007028	T	0.27419	0.0673	L	0.36672	1.1	0.19575	N	0.999965	P;P	0.42409	0.671;0.779	B;B	0.35971	0.107;0.215	T	0.11817	-1.0572	10	0.41790	T	0.15	.	7.4585	0.27280	0.2595:0.0:0.7405:0.0	.	2;2	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	2	ENSP00000401959:E2D;ENSP00000417955:E2D	ENSP00000411168:E2D	E	+	3	2	VWA3B	98075993	0.102000	0.21896	0.389000	0.26208	0.889000	0.51656	0.446000	0.21694	0.895000	0.36342	0.650000	0.86243	GAG		0.443	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
UNC50	25972	broad.mit.edu	37	2	99226430	99226430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:99226430C>T	ENST00000357765.2	+	2	360	c.208C>T	c.(208-210)Cga>Tga	p.R70*	UNC50_ENST00000409347.1_Nonsense_Mutation_p.R87*|COA5_ENST00000328709.3_5'Flank|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409975.1_Nonsense_Mutation_p.R87*	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	70					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)	p.R70*(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTTCATTATCGAAAACAGAC	0.448																																					p.R70X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C208T	2						.						65.0	69.0	68.0					2																	99226430		2203	4300	6503	98592862	SO:0001587	stop_gained	25972	exon2				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.208C>T	2.37:g.99226430C>T	ENSP00000350409:p.Arg70*		98592862	NM_014044	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Nonsense_Mutation	SNP	ENST00000357765.2	37	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	C	46	12.705091	0.99690	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	2.45	0.29901	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-42.8223	8.6163	0.33833	0.4874:0.4414:0.0:0.0712	.	.	.	.	X	70;87;87	.	ENSP00000350409:R70X	R	+	1	2	UNC50	98592862	0.719000	0.27986	0.985000	0.45067	0.977000	0.68977	0.230000	0.17852	0.592000	0.29728	0.591000	0.81541	CGA		0.448	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044	
LIPT1	51601	broad.mit.edu	37	2	99778612	99778612	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:99778612C>A	ENST00000393473.2	+	3	416	c.192C>A	c.(190-192)ttC>ttA	p.F64L	LIPT1_ENST00000393471.2_Missense_Mutation_p.F64L|LIPT1_ENST00000393474.3_Missense_Mutation_p.F64L|LIPT1_ENST00000393477.3_Missense_Mutation_p.F64L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Missense_Mutation_p.F64L	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	64	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)	p.F64L(1)		large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CAATTCTATTCTTTTGGCAGA	0.393																																					p.F64L	GBM(84;665 1268 21657 25485 30647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C192A	2						.						126.0	114.0	118.0					2																	99778612		2203	4300	6503	99145044	SO:0001583	missense	51601	exon4			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.192C>A	2.37:g.99778612C>A	ENSP00000377115:p.Phe64Leu		99145044	NM_145197	Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.693186	0.00731	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000449211;ENST00000434566;ENST00000415142	.	.	.	4.91	3.09	0.35607	.	0.115083	0.64402	N	0.000010	T	0.37544	0.1007	L	0.39020	1.185	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14200	-1.0481	9	0.06099	T	0.92	0.0138	5.5374	0.17020	0.1604:0.6768:0.0:0.1628	.	64	Q9Y234	LIPT_HUMAN	L	64	.	ENSP00000342071:F64L	F	+	3	2	LIPT1	99145044	0.406000	0.25344	0.996000	0.52242	0.319000	0.28217	0.568000	0.23623	0.652000	0.30806	-0.140000	0.14226	TTC		0.393	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929	
REV1	51455	broad.mit.edu	37	2	100020955	100020955	+	Silent	SNP	C	C	T	rs2290260	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:100020955C>T	ENST00000258428.3	-	18	3225	c.2997G>A	c.(2995-2997)tcG>tcA	p.S999S	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Silent_p.S998S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	999					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.S999S(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						CGTCACTGTTCGATTCTTGAG	0.413								Direct reversal of damage					C|||	6	0.00119808	0.0	0.0014	5008	,	,		19188	0.005		0.0	False		,,,				2504	0.0				p.S999S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2997A	2						.						191.0	183.0	186.0					2																	100020955		2203	4300	6503	99387387	SO:0001819	synonymous_variant	51455	exon18			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.2997G>A	2.37:g.100020955C>T			99387387	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	CCDS2045.1																																																																																				0.413	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
REV1	51455	broad.mit.edu	37	2	100052367	100052367	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:100052367C>T	ENST00000258428.3	-	7	1478	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	REV1_ENST00000393445.3_Missense_Mutation_p.S417N|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	417					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.S417N(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						CATTATACAGCTCTGATGTCT	0.348								Direct reversal of damage																													p.S417N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1250A	2						.						107.0	107.0	107.0					2																	100052367		2203	4298	6501	99418799	SO:0001583	missense	51455	exon7			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.1250G>A	2.37:g.100052367C>T	ENSP00000258428:p.Ser417Asn		99418799	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729590	0.30684	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.70869	-0.52;-0.52;-0.52	5.77	4.89	0.63831	.	0.174631	0.64402	N	0.000005	T	0.61800	0.2376	L	0.43923	1.385	0.47659	D	0.999488	B;B	0.19817	0.003;0.039	B;B	0.18561	0.007;0.022	T	0.58132	-0.7690	10	0.38643	T	0.18	.	11.1769	0.48606	0.0:0.8593:0.0:0.1407	.	417;417	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	N	417;417;55	ENSP00000377091:S417N;ENSP00000258428:S417N;ENSP00000414875:S55N	ENSP00000258428:S417N	S	-	2	0	REV1	99418799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.360000	0.44151	1.440000	0.47531	0.655000	0.94253	AGC		0.348	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
AGXT	189	broad.mit.edu	37	2	241817501	241817501	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr2:241817501C>T	ENST00000307503.3	+	10	1392	c.1005C>T	c.(1003-1005)atC>atT	p.I335I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	335					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.I335I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GGAGAGACATCGTCAGCTACG	0.622																																					p.I335I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005T	2						.						57.0	50.0	53.0					2																	241817501		2203	4300	6503	241466174	SO:0001819	synonymous_variant	189	exon10			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.1005C>T	2.37:g.241817501C>T			241466174	NM_000030	Q53QU6	Silent	SNP	ENST00000307503.3	37	CCDS2543.1																																																																																				0.622	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030	
FANCD2	2177	broad.mit.edu	37	3	10076460	10076460	+	Missense_Mutation	SNP	C	C	T	rs200335298		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:10076460C>T	ENST00000419585.1	+	5	516	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	FANCD2_ENST00000383807.1_Missense_Mutation_p.R119C|FANCD2_ENST00000438741.1_3'UTR|FANCD2_ENST00000287647.3_Missense_Mutation_p.R119C|FANCD2_ENST00000431693.1_Missense_Mutation_p.R119C|RNU6-670P_ENST00000364312.1_RNA|FANCD2_ENST00000383806.1_Missense_Mutation_p.R119C			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	119	Interaction with FANCE.				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.R119C(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)		GTCTTGTGAGCGTCTGCAGGA	0.453			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				c|||	1	0.000199681	0.0	0.0	5008	,	,		16392	0.0		0.001	False		,,,				2504	0.0				p.R119C		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C355T	3						.						59.0	52.0	54.0					3																	10076460		2191	4281	6472	10051460	SO:0001583	missense	2177	exon5	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.355C>T	3.37:g.10076460C>T	ENSP00000398754:p.Arg119Cys		10051460	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.60	2.880442	0.51801	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.94	5.06	0.68205	.	0.546626	0.21303	N	0.076771	T	0.39253	0.1071	M	0.63428	1.95	0.09310	N	0.999999	P;P;P	0.49862	0.929;0.853;0.886	B;B;B	0.37550	0.253;0.184;0.2	T	0.52313	-0.8592	10	0.54805	T	0.06	.	7.0321	0.24972	0.1727:0.7428:0.0:0.0845	.	119;119;119	Q9BXW9-2;Q9BXW9;Q9BXW9-4	.;FACD2_HUMAN;.	C	119	ENSP00000287647:R119C;ENSP00000373318:R119C;ENSP00000373317:R119C;ENSP00000398754:R119C;ENSP00000399354:R119C	ENSP00000287647:R119C	R	+	1	0	FANCD2	10051460	0.357000	0.24938	0.561000	0.28357	0.982000	0.71751	2.045000	0.41250	2.812000	0.96745	0.557000	0.71058	CGT		0.453	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
FILIP1L	11259	broad.mit.edu	37	3	99648748	99648748	+	Silent	SNP	C	C	T	rs200563011		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:99648748C>T	ENST00000354552.3	-	3	848	c.378G>A	c.(376-378)gcG>gcA	p.A126A	FILIP1L_ENST00000331335.5_Silent_p.A126A|FILIP1L_ENST00000398326.2_Silent_p.A126A|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	126						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A126A(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						GGGTAGATTTCGCTTGAAAAG	0.478																																					p.A126A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G378A	3						.						106.0	105.0	105.0					3																	99648748		1934	4155	6089	101131438	SO:0001819	synonymous_variant	11259	exon3				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.378G>A	3.37:g.99648748C>T			101131438	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	CCDS43117.1																																																																																				0.478	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
FILIP1L	11259	broad.mit.edu	37	3	99649779	99649779	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:99649779T>A	ENST00000354552.3	-	2	556	c.86A>T	c.(85-87)aAa>aTa	p.K29I	FILIP1L_ENST00000331335.5_Missense_Mutation_p.K29I|FILIP1L_ENST00000398326.2_Missense_Mutation_p.K29I|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	29						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K29I(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						CTTCATGTTTTTAGGCCCTTG	0.488																																					p.K29I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A86T	3						.						174.0	163.0	166.0					3																	99649779		1912	4121	6033	101132469	SO:0001583	missense	11259	exon2				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.86A>T	3.37:g.99649779T>A	ENSP00000346560:p.Lys29Ile		101132469	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	T	4.444	0.082218	0.08533	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	T;T;T	0.19250	2.16;2.16;2.66	4.71	-0.351	0.12602	.	2.631590	0.02062	N	0.050881	T	0.11665	0.0284	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.17722	0.019;0.008	T	0.30031	-0.9992	10	0.59425	D	0.04	3.5779	3.8786	0.09068	0.1629:0.3225:0.0:0.5146	.	29;29	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	29	ENSP00000346560:K29I;ENSP00000327880:K29I;ENSP00000381371:K29I	ENSP00000327880:K29I	K	-	2	0	FILIP1L	101132469	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.810000	0.04505	0.172000	0.19760	-0.468000	0.05107	AAA		0.488	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
GPR128	84873	broad.mit.edu	37	3	100365425	100365425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:100365425G>T	ENST00000273352.3	+	10	1391	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Nonsense_Mutation_p.E80*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	375					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.E375*(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						CAACCAAAAAGAATTTCAACT	0.348																																					p.E375X	Pancreas(87;185 1975 7223 18722)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1123T	3						.						71.0	75.0	74.0					3																	100365425		2203	4300	6503	101848115	SO:0001587	stop_gained	84873	exon10			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.1123G>T	3.37:g.100365425G>T	ENSP00000273352:p.Glu375*		101848115	NM_032787	Q14D94|Q86SQ2	Nonsense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049537	0.93740	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	.	.	.	5.62	-0.86	0.10680	.	1.174550	0.06134	N	0.671162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	6.021	0.19628	0.3071:0.2539:0.439:0.0	.	.	.	.	X	375;80	.	ENSP00000273352:E375X	E	+	1	0	GPR128	101848115	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.065000	0.14466	0.052000	0.16007	-0.136000	0.14681	GAA		0.348	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
TFG	10342	broad.mit.edu	37	3	100451455	100451455	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:100451455C>A	ENST00000240851.4	+	5	859	c.519C>A	c.(517-519)aaC>aaA	p.N173K	TFG_ENST00000490574.1_Missense_Mutation_p.N173K|TFG_ENST00000476228.1_Missense_Mutation_p.N173K|TFG_ENST00000418917.2_Missense_Mutation_p.N173K	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	173					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.N173K(2)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CTTTAAAAAACCAAGATGAAA	0.393			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																p.N173K			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C519A	3						.						90.0	91.0	91.0					3																	100451455		2203	4300	6503	101934145	SO:0001583	missense	10342	exon5			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.519C>A	3.37:g.100451455C>A	ENSP00000240851:p.Asn173Lys		101934145	NM_006070	D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430695	0.62844	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000487505	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.94	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.78314	0.991;0.979	T	0.62709	-0.6797	10	0.40728	T	0.16	-9.4651	11.3455	0.49559	0.0:0.8528:0.0:0.1472	.	173;173	G5E9V1;Q92734	.;TFG_HUMAN	K	173	ENSP00000397182:N173K;ENSP00000419960:N173K;ENSP00000240851:N173K;ENSP00000417952:N173K;ENSP00000420797:N173K	ENSP00000240851:N173K	N	+	3	2	TFG	101934145	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.437000	0.34991	2.812000	0.96745	0.557000	0.71058	AAC		0.393	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070	
ABI3BP	25890	broad.mit.edu	37	3	100497215	100497215	+	Missense_Mutation	SNP	G	G	A	rs199686325		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:100497215G>A	ENST00000284322.5	-	26	2222	c.2113C>T	c.(2113-2115)Cgc>Tgc	p.R705C	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1407C|ABI3BP_ENST00000383691.4_Missense_Mutation_p.R659C	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	705	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.R659C(1)|p.R706C(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						GGTGGGCGGCGAGTCCCTGGG	0.398																																					p.R705C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2113T	3						.						94.0	93.0	93.0					3																	100497215		1864	4095	5959	101979905	SO:0001583	missense	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.2113C>T	3.37:g.100497215G>A	ENSP00000284322:p.Arg705Cys		101979905	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.49|17.49	3.402094|3.402094	0.62288|0.62288	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000497395	T;T;T|.	0.24538|.	2.18;1.89;1.85|.	5.79|5.79	4.91|4.91	0.64330|0.64330	.|.	0.493767|.	0.20611|.	N|.	0.088971|.	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.998|.	P;P;D;P|.	0.66979|.	0.794;0.818;0.948;0.719|.	T|T	0.47315|0.47315	-0.9127|-0.9127	10|5	0.59425|.	D|.	0.04|.	-1.1719|-1.1719	14.8507|14.8507	0.70295|0.70295	0.0:0.1436:0.8564:0.0|0.0:0.1436:0.8564:0.0	.|.	659;705;1407;414|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	C|L	1407;705;414;116;659;117|145	ENSP00000420524:R1407C;ENSP00000284322:R705C;ENSP00000373189:R659C|.	ENSP00000284322:R705C|.	R|S	-|-	1|2	0|0	ABI3BP|ABI3BP	101979905|101979905	0.979000|0.979000	0.34478|0.34478	0.543000|0.543000	0.28128|0.28128	0.866000|0.866000	0.49608|0.49608	3.041000|3.041000	0.49807|0.49807	1.435000|1.435000	0.47434|0.47434	0.462000|0.462000	0.41574|0.41574	CGC|TCG		0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
ABI3BP	25890	broad.mit.edu	37	3	100508360	100508360	+	Splice_Site	SNP	G	G	A	rs374566927		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:100508360G>A	ENST00000284322.5	-	24	2076	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	ABI3BP_ENST00000471714.1_Splice_Site_p.A1333V|ABI3BP_ENST00000383691.4_Splice_Site_p.A610V	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	656	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.A657V(1)|p.A610V(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						TCTGTGTGGCGCTGAAACAGA	0.423																																					p.A656V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1967T	3						.	G	VAL/ALA	1,3679		0,1,1839	67.0	61.0	63.0		1967	5.7	1.0	3		63	0,8180		0,0,4090	no	missense-near-splice	ABI3BP	NM_015429.3	64	0,1,5929	AA,AG,GG		0.0,0.0272,0.0084	probably-damaging	656/1076	100508360	1,11859	1840	4090	5930	101991050	SO:0001630	splice_region_variant	25890	exon24			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.1967-1C>T	3.37:g.100508360G>A			101991050	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.84|16.84	3.233470|3.233470	0.58886|0.58886	2.72E-4|2.72E-4	0.0|0.0	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000495591;ENST00000471901	T;T;T|.	0.56275|.	2.12;0.47;1.54|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.304911|.	0.35677|.	N|.	0.003056|.	T|T	0.71753|0.71753	0.3377|0.3377	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.962;0.989;1.0;0.989|.	B;P;D;B|.	0.80764|.	0.204;0.54;0.994;0.41|.	T|T	0.68716|0.68716	-0.5335|-0.5335	10|5	0.38643|.	T|.	0.18|.	.|.	15.6813|15.6813	0.77371|0.77371	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	610;656;1333;340|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	V|C	1333;656;340;42;610;68|712;236	ENSP00000420524:A1333V;ENSP00000284322:A656V;ENSP00000373189:A610V|.	ENSP00000284322:A656V|.	A|R	-|-	2|1	0|0	ABI3BP|ABI3BP	101991050|101991050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.105000|0.105000	0.19272|0.19272	4.179000|4.179000	0.58290|0.58290	2.852000|2.852000	0.98041|0.98041	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.423	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		Missense_Mutation
ABI3BP	25890	broad.mit.edu	37	3	100570743	100570743	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:100570743G>A	ENST00000284322.5	-	13	1310	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P450S|ABI3BP_ENST00000471714.1_Missense_Mutation_p.P450S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	401					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.P401S(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						GATATCTCAGGCTCATCTGAT	0.358																																					p.P401S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1201T	3						.						89.0	90.0	90.0					3																	100570743		1824	4075	5899	102053433	SO:0001583	missense	25890	exon13			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.1201C>T	3.37:g.100570743G>A	ENSP00000284322:p.Pro401Ser		102053433	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114549	0.20795	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T;T	0.56103	0.48;0.48;0.48	4.87	3.96	0.45880	.	0.358720	0.26387	N	0.024674	T	0.61110	0.2321	L	0.53249	1.67	0.80722	D	1	D;P	0.64830	0.994;0.78	D;B	0.65773	0.938;0.197	T	0.56823	-0.7915	10	0.13108	T	0.6	-0.9547	11.6886	0.51501	0.0:0.0:0.6688:0.3312	.	450;401	Q5JPC9;Q7Z7G0	.;TARSH_HUMAN	S	450;401;450	ENSP00000420524:P450S;ENSP00000284322:P401S;ENSP00000433993:P450S	ENSP00000284322:P401S	P	-	1	0	ABI3BP	102053433	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	1.626000	0.37039	1.340000	0.45581	0.650000	0.86243	CCT		0.358	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
ABI3BP	25890	broad.mit.edu	37	3	100605154	100605154	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:100605154G>A	ENST00000284322.5	-	5	605	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	ABI3BP_ENST00000495063.1_Missense_Mutation_p.R166C|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R166C	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	166	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R166C(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						TCTCGATAGCGAATTGTATAA	0.313																																					p.R166C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	3						.						48.0	41.0	43.0					3																	100605154		1795	4061	5856	102087844	SO:0001583	missense	25890	exon5			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.496C>T	3.37:g.100605154G>A	ENSP00000284322:p.Arg166Cys		102087844	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663689	0.88251	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	T;T;T;T;T	0.58652	1.0;1.0;1.0;0.32;2.35	5.71	5.71	0.89125	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.095560	0.85682	D	0.000000	T	0.76421	0.3985	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;0.997	T	0.77560	-0.2542	10	0.87932	D	0	-8.9426	19.8533	0.96747	0.0:0.0:1.0:0.0	.	159;166;166	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	C	166;166;166;85;106	ENSP00000420524:R166C;ENSP00000284322:R166C;ENSP00000433993:R166C;ENSP00000435319:R85C;ENSP00000436918:R106C	ENSP00000284322:R166C	R	-	1	0	ABI3BP	102087844	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.522000	0.90573	2.695000	0.91970	0.555000	0.69702	CGC		0.313	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
SENP7	57337	broad.mit.edu	37	3	101051657	101051657	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:101051657T>G	ENST00000394095.2	-	18	2583	c.2530A>C	c.(2530-2532)Aac>Cac	p.N844H	SENP7_ENST00000394091.1_Missense_Mutation_p.N680H|SENP7_ENST00000314261.7_Missense_Mutation_p.N778H|SENP7_ENST00000394085.3_Missense_Mutation_p.N32H|SENP7_ENST00000394094.2_Missense_Mutation_p.N779H|SENP7_ENST00000348610.3_Missense_Mutation_p.N811H|SENP7_ENST00000358203.3_Missense_Mutation_p.N680H	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	844	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.N778H(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						TTAAAAATGTTTATGTGACGA	0.264																																					p.N844H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2530C	3						.						89.0	91.0	90.0					3																	101051657		2201	4274	6475	102534347	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.2530A>C	3.37:g.101051657T>G	ENSP00000377655:p.Asn844His		102534347	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804083	0.70682	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.18	5.18	0.71444	.	0.054971	0.64402	D	0.000001	T	0.52837	0.1759	M	0.76002	2.32	0.48632	D	0.999683	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.976;0.999	D;D;D;D;D	0.91635	0.999;0.995;0.997;0.945;0.964	T	0.57106	-0.7868	10	0.87932	D	0	-4.2332	9.5514	0.39313	0.0:0.0792:0.0:0.9208	.	680;778;811;844;32	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	H	844;779;778;680;680;32;811	ENSP00000377655:N844H;ENSP00000377654:N779H;ENSP00000313624:N778H;ENSP00000377651:N680H;ENSP00000350936:N680H;ENSP00000377647:N32H;ENSP00000342159:N811H	ENSP00000313624:N778H	N	-	1	0	SENP7	102534347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.233000	0.65337	1.960000	0.56953	0.402000	0.26972	AAC		0.264	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
SENP7	57337	broad.mit.edu	37	3	101090959	101090959	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:101090959C>T	ENST00000394095.2	-	7	742	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	SENP7_ENST00000394091.1_Missense_Mutation_p.R66Q|SENP7_ENST00000314261.7_Missense_Mutation_p.R164Q|SENP7_ENST00000394094.2_Missense_Mutation_p.R165Q|SENP7_ENST00000348610.3_Missense_Mutation_p.R197Q|SENP7_ENST00000358203.3_Missense_Mutation_p.R66Q	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	230						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R164Q(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						TGTCTTACTTCGTTGTGAGCC	0.353																																					p.R230Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	3						.						117.0	112.0	113.0					3																	101090959		2203	4300	6503	102573649	SO:0001583	missense	57337	exon7				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.689G>A	3.37:g.101090959C>T	ENSP00000377655:p.Arg230Gln		102573649	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	0.832	-0.744961	0.03065	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.17528	2.29;2.28;2.28;2.27;2.27;2.29	4.8	-5.51	0.02568	.	1.423670	0.04637	N	0.404629	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14438	0.008;0.008;0.01;0.006	B;B;B;B	0.09377	0.002;0.003;0.004;0.002	T	0.32134	-0.9918	10	0.18710	T	0.47	3.3315	3.1184	0.06382	0.1602:0.4547:0.1605:0.2246	.	66;164;197;230	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	Q	230;165;164;66;66;197	ENSP00000377655:R230Q;ENSP00000377654:R165Q;ENSP00000313624:R164Q;ENSP00000377651:R66Q;ENSP00000350936:R66Q;ENSP00000342159:R197Q	ENSP00000313624:R164Q	R	-	2	0	SENP7	102573649	0.030000	0.19436	0.002000	0.10522	0.003000	0.03518	0.007000	0.13174	-0.706000	0.05028	-0.680000	0.03767	CGA		0.353	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
ATP2B2	491	broad.mit.edu	37	3	10387721	10387721	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:10387721G>A	ENST00000352432.4	-	16	2574	c.2505C>T	c.(2503-2505)ttC>ttT	p.F835F	ATP2B2_ENST00000383800.4_Silent_p.F790F|ATP2B2_ENST00000397077.1_Silent_p.F790F|ATP2B2_ENST00000360273.2_Silent_p.F835F|ATP2B2_ENST00000343816.4_Silent_p.F821F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	835					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.F790F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTACCATGGCGAAGCCCACGT	0.652																																					p.F790F	Ovarian(125;1619 1709 15675 19819 38835)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2370T	3						.						45.0	41.0	42.0					3																	10387721		2203	4300	6503	10362721	SO:0001819	synonymous_variant	491	exon14			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2505C>T	3.37:g.10387721G>A			10362721	NM_001683	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																				0.652	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
TRMT10C	54931	broad.mit.edu	37	3	101284212	101284212	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:101284212C>T	ENST00000309922.6	+	2	741	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	196	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.A196V(1)									TGGAAGGGTGCCCAGGCCATG	0.393																																					p.A196V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C587T	3						.						103.0	96.0	98.0					3																	101284212		1849	4094	5943	102766902	SO:0001583	missense	54931	exon2			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.587C>T	3.37:g.101284212C>T	ENSP00000312356:p.Ala196Val		102766902	NM_017819	Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276572	0.23307	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.25250	2.45;1.81	5.96	3.2	0.36748	.	0.443527	0.25744	N	0.028591	T	0.09468	0.0233	N	0.02247	-0.625	0.32024	N	0.600386	B	0.22683	0.073	B	0.19666	0.026	T	0.17776	-1.0358	10	0.22706	T	0.39	-28.2366	8.7092	0.34374	0.0:0.7115:0.0:0.2885	.	196	Q7L0Y3	MRRP1_HUMAN	V	196	ENSP00000312356:A196V;ENSP00000419389:A196V	ENSP00000312356:A196V	A	+	2	0	RG9MTD1	102766902	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.127000	0.50484	0.410000	0.25675	0.655000	0.94253	GCC		0.393	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819	
CBLB	868	broad.mit.edu	37	3	105438956	105438956	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:105438956C>T	ENST00000264122.4	-	10	1663	c.1342G>A	c.(1342-1344)Gac>Aac	p.D448N	CBLB_ENST00000394027.3_Missense_Mutation_p.D470N|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.D448N|CBLB_ENST00000405772.1_Missense_Mutation_p.D448N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	448					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D448Y(1)|p.D448N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCGTCCAAGTCTAGCATCGGC	0.468			Mis S		AML																																p.D448N	GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1342A	3						.						119.0	100.0	106.0					3																	105438956		2203	4300	6503	106921646	SO:0001583	missense	868	exon10			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1342G>A	3.37:g.105438956C>T	ENSP00000264122:p.Asp448Asn		106921646	NM_170662	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	36	5.812525	0.96975	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.84660	-1.85;-1.85;-1.87;-1.88	5.91	5.91	0.95273	.	0.044779	0.85682	D	0.000000	D	0.91620	0.7352	M	0.66939	2.045	0.80722	D	1	P;D;D	0.71674	0.953;0.971;0.998	P;P;D	0.64687	0.551;0.783;0.928	D	0.91596	0.5291	10	0.87932	D	0	-19.8107	20.2956	0.98549	0.0:1.0:0.0:0.0	.	470;448;448	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	N	448;470;448;448	ENSP00000264122:D448N;ENSP00000377595:D470N;ENSP00000384816:D448N;ENSP00000384938:D448N	ENSP00000264122:D448N	D	-	1	0	CBLB	106921646	0.999000	0.42202	1.000000	0.80357	0.855000	0.48748	2.860000	0.48372	2.805000	0.96524	0.460000	0.39030	GAC		0.468	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	
MYH15	22989	broad.mit.edu	37	3	108110651	108110651	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:108110651C>T	ENST00000273353.3	-	38	5502	c.5446G>A	c.(5446-5448)Gcc>Acc	p.A1816T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1816						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1816T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCCATCAGGGCCATCTGTTCA	0.463																																					p.A1816T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5446A	3						.						234.0	228.0	230.0					3																	108110651		1923	4137	6060	109593341	SO:0001583	missense	22989	exon38			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.5446G>A	3.37:g.108110651C>T	ENSP00000273353:p.Ala1816Thr		109593341	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474852	0.43942	.	.	ENSG00000144821	ENST00000273353	T	0.80994	-1.44	5.98	-1.74	0.08056	Myosin tail (1);	.	.	.	.	T	0.79411	0.4441	M	0.71871	2.18	0.09310	N	1	B	0.27450	0.179	B	0.37989	0.262	T	0.72868	-0.4162	9	0.72032	D	0.01	.	6.858	0.24052	0.3024:0.5124:0.0:0.1852	.	1816	Q9Y2K3	MYH15_HUMAN	T	1816	ENSP00000273353:A1816T	ENSP00000273353:A1816T	A	-	1	0	MYH15	109593341	0.561000	0.26578	0.000000	0.03702	0.056000	0.15407	2.068000	0.41471	-0.340000	0.08388	0.655000	0.94253	GCC		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MYH15	22989	broad.mit.edu	37	3	108127208	108127208	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:108127208C>A	ENST00000273353.3	-	33	4655	c.4599G>T	c.(4597-4599)aaG>aaT	p.K1533N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1533						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1533N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAGTTAAGTTCTTGGTCCCTT	0.403																																					p.K1533N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4599T	3						.						178.0	161.0	167.0					3																	108127208		1848	4110	5958	109609898	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.4599G>T	3.37:g.108127208C>A	ENSP00000273353:p.Lys1533Asn		109609898	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458611	0.63401	.	.	ENSG00000144821	ENST00000273353	D	0.81579	-1.51	5.51	3.73	0.42828	Myosin tail (1);	.	.	.	.	D	0.89139	0.6630	M	0.90145	3.09	0.41503	D	0.98829	D	0.53619	0.961	P	0.62298	0.9	D	0.89092	0.3483	9	0.87932	D	0	.	9.1902	0.37195	0.0:0.7801:0.0:0.2199	.	1533	Q9Y2K3	MYH15_HUMAN	N	1533	ENSP00000273353:K1533N	ENSP00000273353:K1533N	K	-	3	2	MYH15	109609898	0.967000	0.33354	0.450000	0.26969	0.970000	0.65996	0.362000	0.20284	0.697000	0.31718	-0.140000	0.14226	AAG		0.403	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MYH15	22989	broad.mit.edu	37	3	108147656	108147656	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:108147656C>T	ENST00000273353.3	-	28	3501	c.3445G>A	c.(3445-3447)Gct>Act	p.A1149T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1149						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1149T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGAGGTCAGCTCTCTCCCTT	0.438																																					p.A1149T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3445A	3						.						151.0	142.0	145.0					3																	108147656		1931	4143	6074	109630346	SO:0001583	missense	22989	exon28			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.3445G>A	3.37:g.108147656C>T	ENSP00000273353:p.Ala1149Thr		109630346	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116610	0.56505	.	.	ENSG00000144821	ENST00000273353	T	0.79554	-1.28	5.28	-1.13	0.09775	Myosin tail (1);	.	.	.	.	T	0.78786	0.4338	M	0.63208	1.945	0.09310	N	1	P	0.38473	0.633	P	0.46208	0.507	T	0.69308	-0.5179	9	0.56958	D	0.05	.	4.6399	0.12543	0.2681:0.2916:0.0:0.4403	.	1149	Q9Y2K3	MYH15_HUMAN	T	1149	ENSP00000273353:A1149T	ENSP00000273353:A1149T	A	-	1	0	MYH15	109630346	0.000000	0.05858	0.011000	0.14972	0.672000	0.39443	0.051000	0.14141	0.052000	0.16007	0.650000	0.86243	GCT		0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MYH15	22989	broad.mit.edu	37	3	108219109	108219109	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:108219109G>T	ENST00000273353.3	-	5	468	c.412C>A	c.(412-414)Ctc>Atc	p.L138I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	138	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L138I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACACAGAAGAGACCTGAATAT	0.438																																					p.L138I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C412A	3						.						86.0	81.0	82.0					3																	108219109		1846	4095	5941	109701799	SO:0001583	missense	22989	exon5			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.412C>A	3.37:g.108219109G>T	ENSP00000273353:p.Leu138Ile		109701799	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654948	0.67472	.	.	ENSG00000144821	ENST00000273353	D	0.87809	-2.3	6.17	5.29	0.74685	Myosin head, motor domain (3);	.	.	.	.	D	0.88731	0.6516	L	0.58302	1.8	0.41982	D	0.9908	B	0.17268	0.021	B	0.41666	0.363	D	0.86944	0.2081	9	0.72032	D	0.01	.	11.0207	0.47715	0.0676:0.0:0.8011:0.1313	.	138	Q9Y2K3	MYH15_HUMAN	I	138	ENSP00000273353:L138I	ENSP00000273353:L138I	L	-	1	0	MYH15	109701799	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.299000	0.59073	1.584000	0.49913	0.655000	0.94253	CTC		0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MYH15	22989	broad.mit.edu	37	3	108220662	108220662	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:108220662G>T	ENST00000273353.3	-	4	352	c.296C>A	c.(295-297)cCt>cAt	p.P99H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	99						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P99H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAACTCTGGAGGATTCATCTG	0.453																																					p.P99H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C296A	3						.						143.0	141.0	141.0					3																	108220662		1968	4193	6161	109703352	SO:0001583	missense	22989	exon4			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.296C>A	3.37:g.108220662G>T	ENSP00000273353:p.Pro99His		109703352	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780248	0.70222	.	.	ENSG00000144821	ENST00000273353	T	0.74002	-0.8	5.58	4.7	0.59300	Myosin head, motor domain (1);	.	.	.	.	D	0.91613	0.7350	H	0.98996	4.395	0.53688	D	0.999975	D	0.89917	1.0	D	0.83275	0.996	D	0.94427	0.7646	9	0.87932	D	0	.	14.012	0.64503	0.0738:0.0:0.9262:0.0	.	99	Q9Y2K3	MYH15_HUMAN	H	99	ENSP00000273353:P99H	ENSP00000273353:P99H	P	-	2	0	MYH15	109703352	1.000000	0.71417	0.041000	0.18516	0.684000	0.39900	4.217000	0.58547	1.345000	0.45676	0.591000	0.81541	CCT		0.453	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MORC1	27136	broad.mit.edu	37	3	108725931	108725931	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:108725931A>C	ENST00000232603.5	-	18	1794	c.1712T>G	c.(1711-1713)tTt>tGt	p.F571C	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3			MORC family CW-type zinc finger 1									p.F571C(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGGTATAAATTGAGGCTT	0.353																																					p.F571C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1712G	3						.						94.0	86.0	89.0					3																	108725931		2203	4300	6503	110208621	SO:0001583	missense	27136	exon18			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000232603.5:c.1712T>G	3.37:g.108725931A>C	ENSP00000232603:p.Phe571Cys		110208621	NM_014429		Missense_Mutation	SNP	ENST00000232603.5	37	CCDS2955.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.097162	0.56075	.	.	ENSG00000114487	ENST00000232603	T	0.07444	3.19	4.04	4.04	0.47022	.	1.134990	0.06889	N	0.803833	T	0.10165	0.0249	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	P	0.46796	0.527	T	0.22591	-1.0212	10	0.36615	T	0.2	-11.1375	9.6871	0.40105	1.0:0.0:0.0:0.0	.	571	Q86VD1	MORC1_HUMAN	C	571	ENSP00000232603:F571C	ENSP00000232603:F571C	F	-	2	0	MORC1	110208621	0.997000	0.39634	0.989000	0.46669	0.908000	0.53690	3.431000	0.52814	2.067000	0.61834	0.533000	0.62120	TTT		0.353	MORC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353843.1		
SLC6A1	6529	broad.mit.edu	37	3	11076225	11076225	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:11076225C>A	ENST00000287766.4	+	15	1957	c.1536C>A	c.(1534-1536)ttC>ttA	p.F512L	SLC6A1_ENST00000536032.1_Missense_Mutation_p.F334L	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	512					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F512L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	AGGGCGTGTTCATTTTCAGTG	0.612																																					p.F512L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1536A	3						.						59.0	55.0	56.0					3																	11076225		2203	4300	6503	11051225	SO:0001583	missense	6529	exon15				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1536C>A	3.37:g.11076225C>A	ENSP00000287766:p.Phe512Leu		11051225	NM_003042	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775557	0.49786	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.72835	-0.69;-0.69	5.75	4.87	0.63330	.	0.082348	0.51477	D	0.000089	T	0.72145	0.3424	L	0.35542	1.07	0.80722	D	1	D	0.63046	0.992	P	0.60541	0.876	T	0.72374	-0.4313	10	0.46703	T	0.11	.	10.5935	0.45323	0.0:0.7946:0.0:0.2054	.	512	P30531	SC6A1_HUMAN	L	512;334	ENSP00000287766:F512L;ENSP00000445171:F334L	ENSP00000287766:F512L	F	+	3	2	SLC6A1	11051225	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	1.850000	0.39328	1.408000	0.46895	0.645000	0.84053	TTC		0.612	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	
MORC1	27136	broad.mit.edu	37	3	108788485	108788485	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:108788485C>T	ENST00000483760.1	-	9	852	c.809G>A	c.(808-810)aGa>aAa	p.R270K	MORC1_ENST00000232603.5_Missense_Mutation_p.R270K					MORC family CW-type zinc finger 1									p.R270K(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTACCTGGGTCTGTAGAGGCA	0.353																																					p.R270K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809A	3						.						112.0	113.0	113.0					3																	108788485		2203	4300	6503	110271175	SO:0001583	missense	27136	exon9			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.809G>A	3.37:g.108788485C>T	ENSP00000417282:p.Arg270Lys		110271175	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127784	0.06753	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.73152	-0.72;-0.72	4.84	1.48	0.22813	ATPase-like, ATP-binding domain (1);	0.515671	0.18129	N	0.150814	T	0.44871	0.1314	N	0.16790	0.44	0.27863	N	0.940321	B;B	0.15141	0.012;0.0	B;B	0.12156	0.007;0.001	T	0.33343	-0.9872	10	0.02654	T	1	-8.8456	6.953	0.24556	0.0:0.5375:0.0:0.4625	.	270;270	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	270	ENSP00000232603:R270K;ENSP00000417282:R270K	ENSP00000232603:R270K	R	-	2	0	MORC1	110271175	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.762000	0.26503	0.160000	0.19432	0.591000	0.81541	AGA		0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
TMPRSS7	344805	broad.mit.edu	37	3	111768731	111768731	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:111768731A>G	ENST00000452346.2	+	8	1003	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.T208A			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	334	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTTGTTTCTACAAATAATCT	0.353																																					p.T208A												.	.	0			c.A622G	3						.						128.0	116.0	120.0					3																	111768731		1832	4077	5909	113251421	SO:0001583	missense	344805	exon6			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1000A>G	3.37:g.111768731A>G	ENSP00000398236:p.Thr334Ala		113251421	NM_001042575	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	A	21.1	4.093397	0.76756	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.18338	2.22;2.22	5.15	5.15	0.70609	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.78456	2.415	0.45183	D	0.99819	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.994	T	0.38200	-0.9672	10	0.72032	D	0.01	.	12.8886	0.58058	1.0:0.0:0.0:0.0	.	334;208	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	A	334;322;308;208	ENSP00000398236:T334A;ENSP00000411645:T208A	ENSP00000411645:T208A	T	+	1	0	TMPRSS7	113251421	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.614000	0.74197	2.288000	0.76882	0.528000	0.53228	ACA		0.353	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
TMPRSS7	344805	broad.mit.edu	37	3	111795940	111795940	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:111795940C>T	ENST00000452346.2	+	16	2176	c.2173C>T	c.(2173-2175)Cgc>Tgc	p.R725C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R599C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	725	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R454C(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAGAGAGTTCGCAGTGGGGA	0.507																																					p.R599C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1795T	3						.						95.0	88.0	90.0					3																	111795940		1958	4154	6112	113278630	SO:0001583	missense	344805	exon14			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2173C>T	3.37:g.111795940C>T	ENSP00000398236:p.Arg725Cys		113278630	NM_001042575	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.970210	0.74246	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.88975	-2.45;-2.45	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.638858	0.17343	N	0.177672	D	0.91858	0.7423	M	0.64404	1.975	0.21220	N	0.999759	D;D	0.76494	0.999;0.998	P;P	0.57846	0.828;0.719	D	0.86417	0.1752	10	0.72032	D	0.01	.	12.783	0.57487	0.0:0.9247:0.0:0.0753	.	725;599	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	C	725;713;699;599	ENSP00000398236:R725C;ENSP00000411645:R599C	ENSP00000411645:R599C	R	+	1	0	TMPRSS7	113278630	0.537000	0.26386	0.723000	0.30687	0.897000	0.52465	4.368000	0.59505	2.906000	0.99361	0.655000	0.94253	CGC		0.507	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
SLC9C1	285335	broad.mit.edu	37	3	111927208	111927208	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:111927208A>G	ENST00000305815.5	-	16	2055	c.1803T>C	c.(1801-1803)ttT>ttC	p.F601F	SLC9C1_ENST00000487372.1_Silent_p.F553F	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	601	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.F601F(1)									GGCATATACGAAAAAAGAAGT	0.274																																					p.F601F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1803C	3						.						55.0	65.0	62.0					3																	111927208		2183	4277	6460	113409898	SO:0001819	synonymous_variant	285335	exon16			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1803T>C	3.37:g.111927208A>G			113409898	NM_183061	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																				0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
BOC	91653	broad.mit.edu	37	3	113004335	113004335	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113004335C>A	ENST00000495514.1	+	19	3784	c.3080C>A	c.(3079-3081)gCt>gAt	p.A1027D	BOC_ENST00000273395.4_Missense_Mutation_p.A1028D|BOC_ENST00000355385.3_Missense_Mutation_p.A1027D			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1027					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.A1027D(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAGCCTGCTGCTGTGGGCCAG	0.632																																					p.A1027D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3080A	3						.						46.0	44.0	45.0					3																	113004335		2203	4300	6503	114487025	SO:0001583	missense	91653	exon19			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3080C>A	3.37:g.113004335C>A	ENSP00000418663:p.Ala1027Asp		114487025	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028698	0.35797	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.60424	0.19;0.2;0.19	5.82	4.95	0.65309	.	0.523712	0.20440	N	0.092296	T	0.40743	0.1129	L	0.27053	0.805	0.09310	N	1	B;B;B	0.30973	0.302;0.145;0.09	B;B;B	0.32864	0.154;0.075;0.034	T	0.25293	-1.0136	10	0.12103	T	0.63	.	8.894	0.35453	0.0:0.7242:0.1939:0.0819	.	844;1028;1027	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	D	1027;1028;1027	ENSP00000418663:A1027D;ENSP00000273395:A1028D;ENSP00000347546:A1027D	ENSP00000273395:A1028D	A	+	2	0	BOC	114487025	0.355000	0.24921	0.002000	0.10522	0.026000	0.11368	2.606000	0.46291	1.466000	0.48025	0.514000	0.50259	GCT		0.632	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
SPICE1	152185	broad.mit.edu	37	3	113187238	113187238	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113187238C>T	ENST00000295872.4	-	10	1162	c.903G>A	c.(901-903)ccG>ccA	p.P301P		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	301					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.P301P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CATGCAAATTCGGTTTCCTTT	0.363																																					p.P301P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G903A	3						.						88.0	92.0	90.0					3																	113187238		2203	4300	6503	114669928	SO:0001819	synonymous_variant	152185	exon10			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.903G>A	3.37:g.113187238C>T			114669928	NM_144718	D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	CCDS2973.1																																																																																				0.363	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
SPICE1	152185	broad.mit.edu	37	3	113225396	113225396	+	Silent	SNP	C	C	T	rs368441333		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113225396C>T	ENST00000295872.4	-	2	316	c.57G>A	c.(55-57)ccG>ccA	p.P19P		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	19					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.P19P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCTTTACTTTCGGTGTCTTTC	0.358																																					p.P19P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G57A	3						.	C		0,4406		0,0,2203	196.0	164.0	175.0		57	1.7	0.8	3		175	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPICE1	NM_144718.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		19/856	113225396	1,13005	2203	4300	6503	114708086	SO:0001819	synonymous_variant	152185	exon2			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.57G>A	3.37:g.113225396C>T			114708086	NM_144718	D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	CCDS2973.1																																																																																				0.358	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
SIDT1	54847	broad.mit.edu	37	3	113322872	113322872	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113322872T>G	ENST00000264852.4	+	13	2055	c.1329T>G	c.(1327-1329)atT>atG	p.I443M	SIDT1_ENST00000393830.3_Missense_Mutation_p.I443M|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	443					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.I443M(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						aatataaaatttatttttGGT	0.368																																					p.I443M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1329G	3						.						53.0	48.0	50.0					3																	113322872		2203	4300	6503	114805562	SO:0001583	missense	54847	exon13			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1329T>G	3.37:g.113322872T>G	ENSP00000264852:p.Ile443Met		114805562	NM_017699	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015904	0.54468	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23348	1.91;1.91	6.17	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.36717	0.0977	M	0.70595	2.14	0.43110	D	0.994817	P;P	0.47106	0.866;0.89	P;P	0.52710	0.583;0.707	T	0.11421	-1.0588	10	0.30078	T	0.28	-16.1869	7.718	0.28715	0.0:0.1611:0.0:0.8389	.	443;443	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	M	443	ENSP00000264852:I443M;ENSP00000377416:I443M	ENSP00000264852:I443M	I	+	3	3	SIDT1	114805562	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.216000	0.17585	2.371000	0.80710	0.533000	0.62120	ATT		0.368	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	
KIAA2018	205717	broad.mit.edu	37	3	113378535	113378535	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113378535G>A	ENST00000478658.1	-	5	2011	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S665F			Q68DE3	K2018_HUMAN	KIAA2018	665						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			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						TCCATTTAAAGAAATGGTTTG	0.403																																					p.S665F												.	.	0			c.C1994T	3						.						156.0	148.0	150.0					3																	113378535		1874	4106	5980	114861225	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.1994C>T	3.37:g.113378535G>A	ENSP00000420721:p.Ser665Phe		114861225	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615972	0.66672	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.19532	2.14;2.14	5.27	5.27	0.74061	.	0.065474	0.64402	D	0.000005	T	0.36690	0.0976	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.18903	-1.0322	10	0.87932	D	0	-13.4817	18.8867	0.92381	0.0:0.0:1.0:0.0	.	665	Q68DE3	K2018_HUMAN	F	665	ENSP00000320794:S665F;ENSP00000420721:S665F	ENSP00000320794:S665F	S	-	2	0	KIAA2018	114861225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.362000	0.97126	2.449000	0.82847	0.650000	0.86243	TCT		0.403	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	113378722	113378722	+	Nonsense_Mutation	SNP	G	G	A	rs199640873		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113378722G>A	ENST00000478658.1	-	5	1824	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Nonsense_Mutation_p.R603*			Q68DE3	K2018_HUMAN	KIAA2018	603						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.R603*(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						ATGGGGAGTCGAACAGAACCA	0.443																																					p.R603X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1807T	3						.						142.0	140.0	140.0					3																	113378722		1931	4135	6066	114861412	SO:0001587	stop_gained	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.1807C>T	3.37:g.113378722G>A	ENSP00000420721:p.Arg603*		114861412	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Nonsense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274065	0.95459	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	.	.	.	5.26	3.39	0.38822	.	0.081242	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3315	9.2239	0.37393	0.0:0.1202:0.3919:0.4879	.	.	.	.	X	603	.	ENSP00000320794:R603X	R	-	1	2	KIAA2018	114861412	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	2.436000	0.44819	0.538000	0.28769	0.650000	0.86243	CGA		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
NAA50	80218	broad.mit.edu	37	3	113440685	113440685	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113440685G>A	ENST00000240922.3	-	5	756	c.432C>T	c.(430-432)ccC>ccT	p.P144P	NAA50_ENST00000493454.1_Silent_p.P70P|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000477813.1_Silent_p.P104P|NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493900.1_Silent_p.P143P|NAA50_ENST00000497525.1_Silent_p.P70P	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	144	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)	p.P144P(1)		large_intestine(2)|lung(2)|skin(1)	5						GAGCATCTGCGGGCTCTATCC	0.413																																					p.P144P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C432T	3						.						154.0	147.0	149.0					3																	113440685		2203	4300	6503	114923375	SO:0001819	synonymous_variant	80218	exon5			AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"""N(alpha)-acetyltransferase subunits"""	29533	protein-coding gene	gene with protein product		610834	"""Mak3 homolog (S. cerevisiae)"", ""N-acetyltransferase 13"", ""N-acetyltransferase 13 (GCN5-related)"""	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.432C>T	3.37:g.113440685G>A			114923375	NM_025146	D3DN74|Q68DQ1	Silent	SNP	ENST00000240922.3	37	CCDS2975.1																																																																																				0.413	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354446.2	NM_025146	
GRAMD1C	54762	broad.mit.edu	37	3	113655219	113655219	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113655219A>C	ENST00000358160.4	+	14	2055	c.1563A>C	c.(1561-1563)gaA>gaC	p.E521D	GRAMD1C_ENST00000452134.2_Missense_Mutation_p.E250D|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E354D|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E316D|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	521						integral component of membrane (GO:0016021)		p.E521D(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GAACAGCAGAAACAGTTCCTA	0.433																																					p.E521D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1563C	3						.						132.0	127.0	129.0					3																	113655219		2203	4300	6503	115137909	SO:0001583	missense	54762	exon14				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1563A>C	3.37:g.113655219A>C	ENSP00000350881:p.Glu521Asp		115137909	NM_017577	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983354	0.35036	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	6.06	1.02	0.19986	.	0.262833	0.38663	N	0.001603	T	0.24661	0.0598	M	0.65975	2.015	0.09310	N	0.999993	P;P	0.38729	0.644;0.603	B;B	0.42959	0.403;0.089	T	0.14559	-1.0468	10	0.17832	T	0.49	.	5.1549	0.15029	0.5394:0.1486:0.3121:0.0	.	354;521	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	D	521;250;354;316;316	ENSP00000350881:E521D;ENSP00000399844:E250D;ENSP00000419132:E354D;ENSP00000418302:E316D;ENSP00000408135:E316D	ENSP00000350881:E521D	E	+	3	2	GRAMD1C	115137909	0.466000	0.25823	0.014000	0.15608	0.624000	0.37722	0.809000	0.27168	-0.045000	0.13468	0.533000	0.62120	GAA		0.433	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	
ZDHHC23	254887	broad.mit.edu	37	3	113667761	113667761	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113667761G>A	ENST00000330212.3	+	2	411	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.V32M|RP11-255E6.6_ENST00000609657.1_RNA	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	38					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V38M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAAGAACCACGTGGCTACTTG	0.488																																					p.V38M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	3						.						251.0	220.0	230.0					3																	113667761		2203	4300	6503	115150451	SO:0001583	missense	254887	exon2			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.112G>A	3.37:g.113667761G>A	ENSP00000330485:p.Val38Met		115150451	NM_173570	D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875655	0.33162	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	T;T;T	0.50001	0.77;0.78;0.76	5.38	1.19	0.21007	.	0.502542	0.20928	N	0.083148	T	0.28732	0.0712	N	0.22421	0.69	0.36546	D	0.871581	B	0.16166	0.016	B	0.14023	0.01	T	0.10590	-1.0623	10	0.36615	T	0.2	0.0162	6.9556	0.24570	0.2612:0.2099:0.5289:0.0	.	38	Q8IYP9	ZDH23_HUMAN	M	38;32;38	ENSP00000330485:V38M;ENSP00000417840:V32M;ENSP00000420292:V38M	ENSP00000330485:V38M	V	+	1	0	ZDHHC23	115150451	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.690000	0.25451	0.252000	0.21531	-0.218000	0.12543	GTG		0.488	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570	
ZDHHC23	254887	broad.mit.edu	37	3	113673064	113673064	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:113673064G>A	ENST00000330212.3	+	3	978	c.679G>A	c.(679-681)Gca>Aca	p.A227T	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.A221T	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	227					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A227T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTTCCCTGGGGCAGACATGTC	0.567																																					p.A227T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679A	3						.						93.0	94.0	94.0					3																	113673064		2203	4300	6503	115155754	SO:0001583	missense	254887	exon3			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.679G>A	3.37:g.113673064G>A	ENSP00000330485:p.Ala227Thr		115155754	NM_173570	D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	0.483	-0.878840	0.02550	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.46063	0.88;0.89	4.76	1.79	0.24919	.	0.833880	0.10848	N	0.627452	T	0.27313	0.0670	L	0.29908	0.895	0.09310	N	0.999991	B	0.09022	0.002	B	0.12156	0.007	T	0.30475	-0.9977	10	0.15499	T	0.54	-11.3912	7.1999	0.25874	0.1843:0.143:0.6726:0.0	.	227	Q8IYP9	ZDH23_HUMAN	T	227;221	ENSP00000330485:A227T;ENSP00000417840:A221T	ENSP00000330485:A227T	A	+	1	0	ZDHHC23	115155754	0.076000	0.21285	0.054000	0.19295	0.060000	0.15804	0.357000	0.20199	-0.001000	0.14495	-1.134000	0.01955	GCA		0.567	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570	
PLA1A	51365	broad.mit.edu	37	3	119334938	119334938	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:119334938C>T	ENST00000273371.4	+	6	816	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PLA1A_ENST00000488919.1_Silent_p.F75F|PLA1A_ENST00000494440.1_Silent_p.F232F|PLA1A_ENST00000495992.1_Silent_p.F232F	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	248					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.F248F(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCACCTTCTTTTACGCAG	0.507																																					p.F248F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	3						.						93.0	80.0	84.0					3																	119334938		2203	4300	6503	120817628	SO:0001819	synonymous_variant	51365	exon6			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.744C>T	3.37:g.119334938C>T			120817628	NM_015900	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	ENST00000273371.4	37	CCDS2991.1																																																																																				0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		
SYN2	6854	broad.mit.edu	37	3	12182164	12182164	+	RNA	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:12182164C>T	ENST00000432424.2	+	0	563							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.R62W(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CAAGTGCTTTCGGGGCAAAAA	0.428																																					p.R130W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388T	3						.						78.0	75.0	76.0					3																	12182164		1879	4116	5995	12157164			6854	exon3				CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12182164C>T			12157164	NM_003178	A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37		.	.	.	.	.	.	.	.	.	.	C	17.81	3.480591	0.63849	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.35	4.35	0.52113	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.82193	2.58	0.24696	N	0.993289	D;D	0.89917	1.0;1.0	D;D	0.67900	0.954;0.923	T	0.62497	-0.6842	9	0.87932	D	0	-11.969	12.239	0.54532	0.1697:0.8302:0.0:0.0	.	131;131	Q92777;Q92777-2	SYN2_HUMAN;.	W	63	.	ENSP00000442512:R63W	R	+	1	2	SYN2	12157164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.150000	0.50662	2.263000	0.75096	0.655000	0.94253	CGG		0.428	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625	
GSK3B	2932	broad.mit.edu	37	3	119595322	119595322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:119595322C>A	ENST00000264235.8	-	8	1829	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	GSK3B_ENST00000316626.5_Nonsense_Mutation_p.E283*|GSK3B_ENST00000473886.1_5'UTR	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)	p.E283*(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GGGTTCATTTCTCTGATTTGC	0.338																																					p.E283X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G847T	3						.						156.0	145.0	149.0					3																	119595322		2203	4300	6503	121078012	SO:0001587	stop_gained	2932	exon8			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.847G>T	3.37:g.119595322C>A	ENSP00000264235:p.Glu283*		121078012	NM_002093	D3DN89|Q9BWH3|Q9UL47	Nonsense_Mutation	SNP	ENST00000264235.8	37	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	C	41	8.673157	0.98910	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.0665	18.0111	0.89224	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000264235:E283X	E	-	1	0	GSK3B	121078012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.228000	0.78079	2.561000	0.86390	0.650000	0.86243	GAA		0.338	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		
NDUFB4	4710	broad.mit.edu	37	3	120319976	120319976	+	Missense_Mutation	SNP	C	C	T	rs145311514		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:120319976C>T	ENST00000184266.2	+	2	250	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C	NDUFB4_ENST00000492739.1_Intron|NDUFB4_ENST00000485064.1_Missense_Mutation_p.R67C	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	67					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R67C(1)		breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		TGCCTTGCTTCGTTGGGCCTA	0.383																																					p.R67C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C199T	3						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	122.0	128.0	126.0		199,199	5.4	1.0	3	dbSNP_134	126	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	NDUFB4	NM_001168331.1,NM_004547.5	180,180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	67/121,67/130	120319976	1,12997	2203	4296	6499	121802666	SO:0001583	missense	4710	exon2			AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"""Mitochondrial respiratory chain complex / Complex I"""	7699	protein-coding gene	gene with protein product	"""complex I B15 subunit"""	603840	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"""			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.199C>T	3.37:g.120319976C>T	ENSP00000184266:p.Arg67Cys		121802666	NM_004547	B2RUY3|B9EJC7	Missense_Mutation	SNP	ENST00000184266.2	37	CCDS2999.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575365	0.45902	0.0	1.16E-4	ENSG00000065518	ENST00000184266;ENST00000485064	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.89785	3.06	0.80722	D	1	B;B	0.34255	0.445;0.32	B;B	0.28465	0.09;0.071	T	0.74106	-0.3772	9	0.87932	D	0	.	14.6524	0.68808	0.0:1.0:0.0:0.0	.	67;67	O95168;B2RUY3	NDUB4_HUMAN;.	C	67	.	ENSP00000184266:R67C	R	+	1	0	NDUFB4	121802666	0.997000	0.39634	0.989000	0.46669	0.869000	0.49853	3.554000	0.53720	2.836000	0.97738	0.655000	0.94253	CGT		0.383	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	NM_004547	
HGD	3081	broad.mit.edu	37	3	120363183	120363183	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:120363183G>A	ENST00000283871.5	-	10	1216	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	253					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.L253L(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GCAGCAAACAGCTTGCCCTGG	0.468																																					p.L253L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C757T	3						.						134.0	130.0	131.0					3																	120363183		2203	4296	6499	121845873	SO:0001819	synonymous_variant	3081	exon10				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.757C>T	3.37:g.120363183G>A			121845873	NM_000187	A8K417|B2R8Z0	Silent	SNP	ENST00000283871.5	37	CCDS3000.1																																																																																				0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		
STXBP5L	9515	broad.mit.edu	37	3	120760617	120760617	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:120760617T>G	ENST00000273666.6	+	4	629	c.358T>G	c.(358-360)Ttg>Gtg	p.L120V	STXBP5L_ENST00000492541.1_Missense_Mutation_p.L120V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L120V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L120V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L120V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	120					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.L120V(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)		GCTCCAATTTTTGATCAATGA	0.363																																					p.L120V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T358G	3						.						119.0	112.0	114.0					3																	120760617		1847	4093	5940	122243307	SO:0001583	missense	9515	exon4			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.358T>G	3.37:g.120760617T>G	ENSP00000273666:p.Leu120Val		122243307	NM_014980	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.433659	0.62955	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.57273	0.51;1.55;0.51;0.51;1.55;0.41;1.55	5.21	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.64972	0.2647	M	0.72353	2.195	0.58432	D	0.999996	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.60182	-0.7313	10	0.37606	T	0.19	-15.7508	7.0646	0.25145	0.0:0.2598:0.0:0.7402	.	120;120	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	120	ENSP00000273666:L120V;ENSP00000420019:L120V;ENSP00000419627:L120V;ENSP00000420287:L120V;ENSP00000420666:L120V;ENSP00000419404:L120V;ENSP00000420167:L120V	ENSP00000273666:L120V	L	+	1	2	STXBP5L	122243307	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.458000	0.35223	0.327000	0.23409	0.455000	0.32223	TTG		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
STXBP5L	9515	broad.mit.edu	37	3	120957933	120957933	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:120957933G>A	ENST00000273666.6	+	13	1571	c.1300G>A	c.(1300-1302)Gtc>Atc	p.V434I	STXBP5L_ENST00000492541.1_Missense_Mutation_p.V434I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V434I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V434I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V434I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	434					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.V434I(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)		TTCTATAGGAGTCAAGCATAA	0.313																																					p.V434I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1300A	3						.						50.0	46.0	47.0					3																	120957933		1827	4087	5914	122440623	SO:0001583	missense	9515	exon13			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.1300G>A	3.37:g.120957933G>A	ENSP00000273666:p.Val434Ile		122440623	NM_014980	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541798	0.45280	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.62941	1.6;-0.01;-0.01;1.27;-0.01;-0.01	4.97	4.97	0.65823	WD40 repeat-like-containing domain (2);	0.133963	0.49916	D	0.000126	T	0.49949	0.1587	N	0.14661	0.345	0.37772	D	0.926709	P;P	0.39576	0.533;0.679	B;B	0.40329	0.326;0.326	T	0.56402	-0.7985	10	0.36615	T	0.2	-12.5794	18.4118	0.90554	0.0:0.0:1.0:0.0	.	434;434	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	434	ENSP00000273666:V434I;ENSP00000420019:V434I;ENSP00000419627:V434I;ENSP00000420287:V434I;ENSP00000420666:V434I;ENSP00000420167:V434I	ENSP00000273666:V434I	V	+	1	0	STXBP5L	122440623	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	6.275000	0.72594	2.582000	0.87167	0.655000	0.94253	GTC		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
POLQ	10721	broad.mit.edu	37	3	121206422	121206422	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:121206422T>G	ENST00000264233.5	-	16	5484	c.5356A>C	c.(5356-5358)Agt>Cgt	p.S1786R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1786					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S1921R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCCTGGACTTAAATCGTGG	0.378								DNA polymerases (catalytic subunits)																													p.S1786R	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5356C	3						.						89.0	89.0	89.0					3																	121206422		2203	4300	6503	122689112	SO:0001583	missense	10721	exon16			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5356A>C	3.37:g.121206422T>G	ENSP00000264233:p.Ser1786Arg		122689112	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	3.162	-0.171985	0.06421	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48201	0.82	5.35	4.17	0.49024	.	0.779017	0.13182	N	0.407451	T	0.37919	0.1021	L	0.46157	1.445	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.23476	-1.0187	10	0.24483	T	0.36	.	7.3625	0.26754	0.0:0.0716:0.146:0.7823	.	1786;958	O75417;O75417-2	DPOLQ_HUMAN;.	R	1409;1786;1922	ENSP00000264233:S1786R	ENSP00000264233:S1786R	S	-	1	0	POLQ	122689112	0.072000	0.21174	0.564000	0.28396	0.379000	0.30106	0.701000	0.25616	1.135000	0.42183	0.533000	0.62120	AGT		0.378	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
GOLGB1	2804	broad.mit.edu	37	3	121414503	121414503	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:121414503G>T	ENST00000340645.5	-	13	4977	c.4852C>A	c.(4852-4854)Ctt>Att	p.L1618I	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L1623I	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1618					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.L1618I(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)		GACTGCAGAAGAATTTCATAC	0.378																																					p.L1618I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4852A	3						.						111.0	114.0	113.0					3																	121414503		2203	4300	6503	122897193	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.4852C>A	3.37:g.121414503G>T	ENSP00000341848:p.Leu1618Ile		122897193	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697591	0.48307	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.72725	0.97;0.95;-0.68	5.68	5.68	0.88126	.	0.000000	0.53938	D	0.000044	D	0.83834	0.5340	M	0.75264	2.295	0.52099	D	0.999944	D;D;D;D;D	0.89917	0.998;1.0;0.998;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.997;0.996;0.997;0.999	T	0.83249	-0.0054	10	0.44086	T	0.13	.	17.2816	0.87130	0.0:0.0:1.0:0.0	.	1543;1582;1623;1623;1618	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	I	1618;1623;1582	ENSP00000341848:L1618I;ENSP00000377275:L1623I;ENSP00000418231:L1582I	ENSP00000341848:L1618I	L	-	1	0	GOLGB1	122897193	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.628000	0.83189	2.670000	0.90874	0.561000	0.74099	CTT		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121415676	121415676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:121415676C>A	ENST00000340645.5	-	13	3804	c.3679G>T	c.(3679-3681)Gag>Tag	p.E1227*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E1232*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1227					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.E1227*(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)		CCAATATTCTCATTTTCCTTG	0.448																																					p.E1227X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3679T	3						.						199.0	190.0	193.0					3																	121415676		2203	4300	6503	122898366	SO:0001587	stop_gained	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.3679G>T	3.37:g.121415676C>A	ENSP00000341848:p.Glu1227*		122898366	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	37	6.461914	0.97585	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	.	.	.	6.07	5.2	0.72013	.	0.189124	0.36932	N	0.002325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.2195	0.48846	0.0:0.9163:0.0:0.0837	.	.	.	.	X	1227;1232;1191	.	ENSP00000341848:E1227X	E	-	1	0	GOLGB1	122898366	0.644000	0.27277	0.977000	0.42913	0.409000	0.31022	1.716000	0.37981	1.567000	0.49668	0.655000	0.94253	GAG		0.448	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121433752	121433752	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:121433752C>T	ENST00000340645.5	-	10	1470	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A454T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	449					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.A449T(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)		GTCTGAGATGCTGTTTCATGT	0.328																																					p.A449T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1345A	3						.						153.0	155.0	154.0					3																	121433752		2203	4300	6503	122916442	SO:0001583	missense	2804	exon10			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.1345G>A	3.37:g.121433752C>T	ENSP00000341848:p.Ala449Thr		122916442	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667422	0.29604	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.25912	2.38;2.37;1.77	5.05	2.18	0.27775	.	0.482286	0.19260	N	0.118713	T	0.29850	0.0746	M	0.63428	1.95	0.24688	N	0.993327	P;P;P;P;P	0.51351	0.944;0.944;0.944;0.944;0.944	P;P;P;P;P	0.50825	0.651;0.572;0.651;0.572;0.572	T	0.14504	-1.0470	10	0.15066	T	0.55	.	7.763	0.28963	0.3307:0.5093:0.1599:0.0	.	374;413;454;454;449	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	T	449;454;413;261	ENSP00000341848:A449T;ENSP00000377275:A454T;ENSP00000418231:A413T	ENSP00000341848:A449T	A	-	1	0	GOLGB1	122916442	0.834000	0.29399	0.301000	0.25044	0.447000	0.32167	1.380000	0.34351	0.253000	0.21552	-0.282000	0.10007	GCA		0.328	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
CCDC58	131076	broad.mit.edu	37	3	122087097	122087097	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:122087097T>G	ENST00000291458.5	-	3	256	c.250A>C	c.(250-252)Aac>Cac	p.N84H	CCDC58_ENST00000479899.1_Missense_Mutation_p.N70H|CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000466854.1_5'Flank	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	84						mitochondrion (GO:0005739)		p.N84H(1)		large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TCTCGGAGGTTTTTTACTACT	0.358																																					p.N84H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A250C	3						.						71.0	71.0	71.0					3																	122087097		2203	4300	6503	123569787	SO:0001583	missense	131076	exon3			AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.250A>C	3.37:g.122087097T>G	ENSP00000291458:p.Asn84His		123569787	NM_001017928	Q32LY6	Missense_Mutation	SNP	ENST00000291458.5	37	CCDS33838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.374|9.374	1.071191|1.071191	0.20147|0.20147	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000479414|ENST00000291458;ENST00000479899	.|.	.|.	.|.	5.17|5.17	-1.75|-1.75	0.08031|0.08031	.|.	.|1.264700	.|0.04790	.|N	.|0.431557	T|T	0.26340|0.26340	0.0643|0.0643	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.25012|0.25012	-1.0144|-1.0144	6|9	0.38643|0.39692	T|T	0.18|0.17	.|.	7.2986|7.2986	0.26408|0.26408	0.0:0.1526:0.3873:0.4601|0.0:0.1526:0.3873:0.4601	.|.	.|84	.|Q4VC31	.|CCD58_HUMAN	T|H	80|84;70	.|.	ENSP00000418810:K80T|ENSP00000291458:N84H	K|N	-|-	2|1	0|0	CCDC58|CCDC58	123569787|123569787	0.385000|0.385000	0.25172|0.25172	0.269000|0.269000	0.24586|0.24586	0.922000|0.922000	0.55478|0.55478	1.183000|1.183000	0.32041|0.32041	-0.159000|-0.159000	0.11021|0.11021	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.358	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928	
KPNA1	3836	broad.mit.edu	37	3	122215385	122215385	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:122215385G>A	ENST00000344337.6	-	2	204	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C		NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	10	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.R10C(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CTTTTCAGGCGAAAGTTCTCT	0.438																																					p.R10C	Melanoma(12;340 801 11196 19797)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C28T	3						.						148.0	140.0	143.0					3																	122215385		2203	4300	6503	123698075	SO:0001583	missense	3836	exon2			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.28C>T	3.37:g.122215385G>A	ENSP00000343701:p.Arg10Cys		123698075	NM_002264	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631837	0.87660	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.43	4.54	0.55810	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92972	0.6398	10	0.87932	D	0	-4.887	14.5506	0.68065	0.0:0.0:0.8527:0.1473	.	10	P52294	IMA1_HUMAN	C	10	ENSP00000343701:R10C;ENSP00000419890:R10C;ENSP00000417166:R10C;ENSP00000417319:R10C;ENSP00000419257:R10C	ENSP00000343701:R10C	R	-	1	0	KPNA1	123698075	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.826000	0.62715	1.483000	0.48342	0.655000	0.94253	CGC		0.438	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264	
DTX3L	151636	broad.mit.edu	37	3	122284753	122284753	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:122284753G>A	ENST00000296161.4	+	2	424	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	DTX3L_ENST00000383661.3_Missense_Mutation_p.E79K|PARP9_ENST00000360356.2_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	79					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E79K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ACTTGTTGACGAAAAACCTGT	0.393																																					p.E79K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G235A	3						.						116.0	109.0	112.0					3																	122284753		2203	4300	6503	123767443	SO:0001583	missense	151636	exon2				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.235G>A	3.37:g.122284753G>A	ENSP00000296161:p.Glu79Lys		123767443	NM_138287	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	7.082	0.570505	0.13560	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.41400	1.57;1.0	4.92	-7.95	0.01148	.	2.203020	0.01792	N	0.032369	T	0.30103	0.0754	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.16188	-1.0411	10	0.35671	T	0.21	-10.6967	16.6414	0.85128	0.2974:0.0:0.7026:0.0	.	79;79	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	K	79	ENSP00000296161:E79K;ENSP00000373157:E79K	ENSP00000296161:E79K	E	+	1	0	DTX3L	123767443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.645000	0.02000	-2.110000	0.00837	-0.797000	0.03246	GAA		0.393	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287	
PARP15	165631	broad.mit.edu	37	3	122351038	122351038	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:122351038G>A	ENST00000464300.2	+	10	1610	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	PARP15_ENST00000310366.4_Missense_Mutation_p.R281Q|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.R212Q|PARP15_ENST00000483793.1_Missense_Mutation_p.R320Q	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	515	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R515Q(1)|p.R281Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTTCACCCGAACTTGTTCT	0.358																																					p.R281Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G842A	3						.						75.0	72.0	73.0					3																	122351038		2203	4300	6503	123833728	SO:0001583	missense	165631	exon6			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1544G>A	3.37:g.122351038G>A	ENSP00000417214:p.Arg515Gln		123833728	NM_152615	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	g	0.243	-1.012050	0.02095	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	3.77	1.28	0.21552	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.03959	0.0111	N	0.02403	-0.565	0.09310	N	1	B;B;B;B;B	0.21381	0.006;0.001;0.0;0.055;0.0	B;B;B;B;B	0.09377	0.001;0.0;0.0;0.004;0.0	T	0.42749	-0.9433	9	0.06365	T	0.9	.	6.7554	0.23510	0.6966:0.0:0.3034:0.0	.	212;281;262;320;493	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	Q	515;320;262;281;212	ENSP00000417214:R515Q;ENSP00000417785:R320Q;ENSP00000308436:R281Q;ENSP00000419488:R212Q	ENSP00000308436:R281Q	R	+	2	0	PARP15	123833728	0.000000	0.05858	0.145000	0.22337	0.023000	0.10783	0.345000	0.19979	0.520000	0.28426	-0.285000	0.09966	CGA		0.358	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615	
ADCY5	111	broad.mit.edu	37	3	123018992	123018992	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:123018992C>T	ENST00000462833.1	-	15	4087	c.2875G>A	c.(2875-2877)Gac>Aac	p.D959N	ADCY5_ENST00000309879.5_Missense_Mutation_p.D609N|ADCY5_ENST00000491190.1_Missense_Mutation_p.D592N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	959					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|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)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|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)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D959N(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACCAGCAGGTCGGCGTTGTCG	0.612																																					p.D959N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2875A	3						.						136.0	106.0	116.0					3																	123018992		2203	4300	6503	124501682	SO:0001583	missense	111	exon15			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2875G>A	3.37:g.123018992C>T	ENSP00000419361:p.Asp959Asn		124501682	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260942	0.95368	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.82081	-1.17;-1.56;-1.57	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.89729	0.6799	M	0.84326	2.69	0.80722	D	1	D;D	0.69078	0.997;0.992	P;P	0.56563	0.801;0.656	D	0.91120	0.4929	10	0.54805	T	0.06	.	17.5607	0.87906	0.0:1.0:0.0:0.0	.	959;592	O95622;B3KWA8	ADCY5_HUMAN;.	N	959;592;609	ENSP00000419361:D959N;ENSP00000418537:D592N;ENSP00000308685:D609N	ENSP00000308685:D609N	D	-	1	0	ADCY5	124501682	1.000000	0.71417	0.976000	0.42696	0.748000	0.42578	7.627000	0.83176	2.354000	0.79902	0.650000	0.86243	GAC		0.612	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
KALRN	8997	broad.mit.edu	37	3	124376626	124376626	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:124376626A>G	ENST00000291478.5	+	8	1081	c.918A>G	c.(916-918)agA>agG	p.R306R	KALRN_ENST00000360013.3_Silent_p.R2003R|KALRN_ENST00000428018.2_Silent_p.R274R|KALRN_ENST00000459915.1_Silent_p.R95R|KALRN_ENST00000393496.1_Silent_p.R344R	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2002					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.R306R(1)|p.R2003R(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						AGCAAGACAGATTGGCACAGC	0.433																																					p.R2003R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A6009G	3						.						114.0	114.0	114.0					3																	124376626		2203	4300	6503	125859316	SO:0001819	synonymous_variant	8997	exon41			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.918A>G	3.37:g.124376626A>G			125859316	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415693	0.25552	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.79	2.15	0.27550	.	.	.	.	.	T	0.46678	0.1405	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.28235	-1.0050	4	.	.	.	.	4.1885	0.10409	0.5221:0.0:0.2925:0.1854	.	.	.	.	G	1972	.	.	D	+	2	0	KALRN	125859316	0.997000	0.39634	0.828000	0.32881	0.993000	0.82548	0.892000	0.28322	0.464000	0.27142	0.533000	0.62120	GAT		0.433	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
KALRN	8997	broad.mit.edu	37	3	124390733	124390733	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:124390733C>T	ENST00000291478.5	+	15	1999	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	KALRN_ENST00000360013.3_Silent_p.F2309F|KALRN_ENST00000459915.1_Silent_p.F401F|KALRN_ENST00000428018.2_Silent_p.F580F|KALRN_ENST00000393496.1_Silent_p.F650F	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2308					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.F612F(1)|p.F2309F(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						GGGACAAGTTCGAAGCCAGCA	0.527																																					p.F2309F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6927T	3						.						108.0	107.0	107.0					3																	124390733		2203	4300	6503	125873423	SO:0001819	synonymous_variant	8997	exon48			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.1836C>T	3.37:g.124390733C>T			125873423	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	8.114	0.779385	0.16120	.	.	ENSG00000160145	ENST00000354186	.	.	.	4.77	-0.228	0.13098	.	.	.	.	.	T	0.58250	0.2109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52200	-0.8607	4	.	.	.	.	10.9948	0.47569	0.0:0.1404:0.0:0.8596	.	.	.	.	L	2278	.	.	S	+	2	0	KALRN	125873423	0.630000	0.27155	0.993000	0.49108	0.954000	0.61252	-0.429000	0.06982	-0.256000	0.09473	-0.378000	0.06908	TCG		0.527	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
ITGB5	3693	broad.mit.edu	37	3	124482558	124482558	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:124482558T>G	ENST00000296181.4	-	15	2608	c.2312A>C	c.(2311-2313)aAt>aCt	p.N771T	ITGB5_ENST00000461306.1_5'Flank	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	771					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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)	p.N771T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GTATAATGGATTTGAAGCCTA	0.498																																					p.N771T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2312C	3						.						154.0	125.0	135.0					3																	124482558		2203	4300	6503	125965248	SO:0001583	missense	3693	exon15			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2312A>C	3.37:g.124482558T>G	ENSP00000296181:p.Asn771Thr		125965248	NM_002213	B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914608	0.52546	.	.	ENSG00000082781	ENST00000296181	D	0.99158	-5.5	5.92	4.74	0.60224	Integrin beta subunit, cytoplasmic (2);	0.096756	0.64402	D	0.000001	D	0.98880	0.9621	M	0.86268	2.805	0.58432	D	0.999993	P	0.45768	0.866	P	0.51657	0.676	D	0.98463	1.0597	10	0.87932	D	0	.	11.8735	0.52534	0.0:0.0:0.1459:0.8541	.	771	P18084	ITB5_HUMAN	T	771	ENSP00000296181:N771T	ENSP00000296181:N771T	N	-	2	0	ITGB5	125965248	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	6.216000	0.72212	1.029000	0.39812	0.533000	0.62120	AAT		0.498	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	
MUC13	56667	broad.mit.edu	37	3	124627180	124627180	+	Silent	SNP	C	C	T	rs562055720		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:124627180C>T	ENST00000311075.3	-	11	1388	c.1350G>A	c.(1348-1350)acG>acA	p.T450T		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	451					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.T450T(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAATATGCTTCGTTTTGTTAT	0.343													c|||	1	0.000199681	0.0	0.0	5008	,	,		19013	0.001		0.0	False		,,,				2504	0.0				p.T450T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1350A	3						.						58.0	58.0	58.0					3																	124627180		2203	4300	6503	126109870	SO:0001819	synonymous_variant	56667	exon11			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.1350G>A	3.37:g.124627180C>T			126109870	NM_033049	Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37																																																																																					0.343	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049	
CAND2	23066	broad.mit.edu	37	3	12854812	12854812	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:12854812G>A	ENST00000456430.2	+	7	972	c.931G>A	c.(931-933)Gac>Aac	p.D311N	CAND2_ENST00000295989.5_Missense_Mutation_p.D218N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	311					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.D218N(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						CATAAAACACGACCCCAACTA	0.532																																					p.D311N	GBM(43;676 868 1633 6395 37496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	3						.						109.0	114.0	112.0					3																	12854812		2069	4211	6280	12829812	SO:0001583	missense	23066	exon7				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.931G>A	3.37:g.12854812G>A	ENSP00000387641:p.Asp311Asn		12829812	NM_001162499	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603279	0.66445	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.63744	-0.06;-0.06	4.55	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	H	0.95917	3.74	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.76575	0.699;0.988	D	0.89324	0.3642	10	0.56958	D	0.05	-13.4804	14.8246	0.70101	0.0:0.0:1.0:0.0	.	311;218	O75155;O75155-2	CAND2_HUMAN;.	N	218;311	ENSP00000295989:D218N;ENSP00000387641:D311N	ENSP00000295989:D218N	D	+	1	0	CAND2	12829812	1.000000	0.71417	0.965000	0.40720	0.071000	0.16799	9.694000	0.98686	2.068000	0.61886	0.462000	0.41574	GAC		0.532	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
SLC12A8	84561	broad.mit.edu	37	3	124839483	124839483	+	Missense_Mutation	SNP	C	C	T	rs533253112		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:124839483C>T	ENST00000393469.4	-	6	833	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	SLC12A8_ENST00000469902.1_Missense_Mutation_p.A262T|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.A291T|RNU6-230P_ENST00000362457.1_RNA|SLC12A8_ENST00000430155.2_Missense_Mutation_p.A63T|SLC12A8_ENST00000314584.7_Missense_Mutation_p.A15T	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	262					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.A262T(1)		endometrium(2)|kidney(2)|lung(12)	16						GGAATGCTGGCGGCAGGCTCC	0.622																																					p.A262T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784A	3						.						23.0	27.0	26.0					3																	124839483		1944	4134	6078	126322173	SO:0001583	missense	84561	exon6				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.784G>A	3.37:g.124839483C>T	ENSP00000377112:p.Ala262Thr		126322173	NM_001195483	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570126	0.28003	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584;ENST00000479826	D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	5.62	0.318	0.15867	Amino acid permease domain (1);	.	.	.	.	D	0.90844	0.7124	N	0.01529	-0.815	0.09310	N	1	B;B;B;B;B	0.22211	0.05;0.066;0.008;0.026;0.066	B;B;B;B;B	0.15052	0.008;0.01;0.004;0.012;0.01	D	0.87291	0.2299	9	0.13470	T	0.59	.	5.072	0.14611	0.1463:0.4675:0.0:0.3862	.	154;15;291;262;63	B5MDT1;A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;.;S12A8_HUMAN;.	T	63;262;291;262;15;144	ENSP00000415713:A63T;ENSP00000377112:A262T;ENSP00000404243:A291T;ENSP00000418783:A262T;ENSP00000323632:A15T;ENSP00000420197:A144T	ENSP00000323632:A15T	A	-	1	0	SLC12A8	126322173	0.004000	0.15560	0.387000	0.26183	0.959000	0.62525	-0.052000	0.11865	0.331000	0.23511	-0.140000	0.14226	GCC		0.622	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628	
KBTBD12	166348	broad.mit.edu	37	3	127642661	127642661	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:127642661G>A	ENST00000405109.1	+	2	1224	c.757G>A	c.(757-759)Gca>Aca	p.A253T	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A253T|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	253								p.A253T(1)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AATTCAAAATGCATTCAAAGC	0.408																																					p.A253T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757A	3						.						157.0	149.0	151.0					3																	127642661		1961	4152	6113	129125351	SO:0001583	missense	166348	exon1				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.757G>A	3.37:g.127642661G>A	ENSP00000385957:p.Ala253Thr		129125351	NM_207335	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122393	0.56613	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.79845	-1.31;-1.31	5.77	4.84	0.62591	.	.	.	.	.	T	0.78585	0.4306	M	0.63843	1.955	0.53688	D	0.999972	B	0.12630	0.006	B	0.12156	0.007	T	0.75880	-0.3161	9	0.87932	D	0	.	13.592	0.61966	0.0806:0.0:0.9194:0.0	.	253	Q3ZCT8	KBTBC_HUMAN	T	253	ENSP00000385957:A253T;ENSP00000385879:A253T	ENSP00000385957:A253T	A	+	1	0	KBTBD12	129125351	1.000000	0.71417	0.446000	0.26920	0.953000	0.61014	7.569000	0.82380	1.314000	0.45095	0.585000	0.79938	GCA		0.408	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	
SEC61A1	29927	broad.mit.edu	37	3	127788428	127788428	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:127788428A>G	ENST00000243253.3	+	12	1538	c.1354A>G	c.(1354-1356)Aca>Gca	p.T452A	SEC61A1_ENST00000424880.2_Missense_Mutation_p.T332A|SEC61A1_ENST00000464451.1_Missense_Mutation_p.T458A|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	452					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.T452A(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GCTCGCAGTCACAATCATCTA	0.607																																					p.T452A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1354G	3						.						104.0	112.0	109.0					3																	127788428		2203	4300	6503	129271118	SO:0001583	missense	29927	exon12			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1354A>G	3.37:g.127788428A>G	ENSP00000243253:p.Thr452Ala		129271118	NM_013336	P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.666287	0.67814	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.96	5.96	0.96718	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.86028	2.79	0.80722	D	1	P	0.35348	0.496	P	0.47102	0.537	T	0.78853	-0.2040	9	0.41790	T	0.15	.	16.4343	0.83869	1.0:0.0:0.0:0.0	.	452	P61619	S61A1_HUMAN	A	458;452;332	.	ENSP00000243253:T452A	T	+	1	0	SEC61A1	129271118	1.000000	0.71417	0.696000	0.30242	0.006000	0.05464	9.339000	0.96797	2.285000	0.76669	0.528000	0.53228	ACA		0.607	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336	
EEFSEC	60678	broad.mit.edu	37	3	128060396	128060396	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:128060396C>T	ENST00000254730.6	+	5	1161	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Silent_p.F314F	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	369					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.F369F(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTTTCAACTTCTCTCAAGAAT	0.502																																					p.F369F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1107T	3						.						45.0	48.0	47.0					3																	128060396		2203	4300	6503	129543086	SO:0001819	synonymous_variant	60678	exon5				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.1107C>T	3.37:g.128060396C>T			129543086	NM_021937	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																				0.502	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937	
RPN1	6184	broad.mit.edu	37	3	128341088	128341088	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:128341088C>T	ENST00000296255.3	-	9	1608	c.1560G>A	c.(1558-1560)gaG>gaA	p.E520E	RPN1_ENST00000497289.1_Silent_p.E348E	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	520					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)	p.E520E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TGTGTTCAGTCTCCAGGCTCT	0.532			T	EVI1	AML																																p.E520E			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1560A	3						.						182.0	141.0	155.0					3																	128341088		2203	4300	6503	129823778	SO:0001819	synonymous_variant	6184	exon9				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1560G>A	3.37:g.128341088C>T			129823778	NM_002950	B2R5Z0|D3DNB6|Q68DT1	Silent	SNP	ENST00000296255.3	37	CCDS3051.1																																																																																				0.532	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950	
RAB7A	7879	broad.mit.edu	37	3	128525321	128525321	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:128525321T>G	ENST00000265062.3	+	4	533	c.287T>G	c.(286-288)tTc>tGc	p.F96C	RAB7A_ENST00000482525.1_Intron|RAB7A_ENST00000485280.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	96					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F96C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CCCAACACATTCAAAACCCTA	0.507																																					p.F96C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T287G	3						.						133.0	124.0	127.0					3																	128525321		2203	4300	6503	130008011	SO:0001583	missense	7879	exon4			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.287T>G	3.37:g.128525321T>G	ENSP00000265062:p.Phe96Cys		130008011	NM_004637	A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574872	0.86542	.	.	ENSG00000075785	ENST00000265062;ENST00000464496	D;D	0.82619	-1.63;-1.63	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	.	.	.	.	D	0.94039	0.8090	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95778	0.8814	9	0.87932	D	0	-12.9063	16.1033	0.81203	0.0:0.0:0.0:1.0	.	96	P51149	RAB7A_HUMAN	C	96	ENSP00000265062:F96C;ENSP00000417978:F96C	ENSP00000265062:F96C	F	+	2	0	RAB7A	130008011	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.203000	0.77864	2.266000	0.75297	0.528000	0.53228	TTC		0.507	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1		
ISY1	57461	broad.mit.edu	37	3	128853750	128853750	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:128853750C>T	ENST00000393295.3	-	8	783	c.466G>A	c.(466-468)Gat>Aat	p.D156N	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.D156N|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000393292.3_Missense_Mutation_p.D156N|ISY1_ENST00000273541.8_Missense_Mutation_p.D178N	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	156					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.D156N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						TACTCAAAATCGATTGCCTTC	0.418																																					p.D178N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G532A	3						.						136.0	129.0	131.0					3																	128853750		1932	4159	6091	130336440	SO:0001583	missense	339122	exon9				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.466G>A	3.37:g.128853750C>T	ENSP00000376973:p.Asp156Asn		130336440	NM_001199469	Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140644	0.94560	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.41400	1.0	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.74546	2.27	0.80722	D	1	D;D;P	0.71674	0.982;0.998;0.952	P;D;P	0.63703	0.63;0.917;0.514	T	0.63238	-0.6682	10	0.49607	T	0.09	.	14.3873	0.66953	0.0:1.0:0.0:0.0	.	178;156;156	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	N	156;156;178;94;156	ENSP00000273541:D178N	ENSP00000273541:D178N	D	-	1	0	ISY1	130336440	1.000000	0.71417	0.920000	0.36463	0.996000	0.88848	6.816000	0.75247	2.524000	0.85096	0.467000	0.42956	GAT		0.418	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701	
MBD4	8930	broad.mit.edu	37	3	129151983	129151983	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:129151983C>T	ENST00000249910.1	-	6	1694	c.1519G>A	c.(1519-1521)Ggt>Agt	p.G507S	MBD4_ENST00000503197.1_Missense_Mutation_p.G507S|MBD4_ENST00000429544.2_Missense_Mutation_p.G501S|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Missense_Mutation_p.G189S|MBD4_ENST00000507208.1_Missense_Mutation_p.G507S	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	507					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.G507S(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TCGTAGAGACCAAGAGGTTTA	0.423								Base excision repair (BER), DNA glycosylases																													p.G507S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1519A	3						.						148.0	147.0	147.0					3																	129151983		2203	4300	6503	130634673	SO:0001583	missense	8930	exon6			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1519G>A	3.37:g.129151983C>T	ENSP00000249910:p.Gly507Ser		130634673	NM_003925	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901119	0.92035	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	6.05	4.23	0.50019	HhH-GPD domain (1);DNA glycosylase (2);	0.050536	0.85682	D	0.000000	D	0.92182	0.7521	M	0.92268	3.29	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.999;0.997;0.931;0.998	D;D;D;B;D	0.79108	0.982;0.992;0.969;0.324;0.982	D	0.93358	0.6724	10	0.87932	D	0	-11.4083	11.5729	0.50845	0.124:0.8102:0.0:0.0658	.	507;189;501;507;507	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	S	501;507;507;189;507	ENSP00000394080:G501S;ENSP00000249910:G507S;ENSP00000424873:G507S;ENSP00000376959:G189S;ENSP00000422327:G507S	ENSP00000249910:G507S	G	-	1	0	MBD4	130634673	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.590000	0.67530	1.557000	0.49525	-0.188000	0.12872	GGT		0.423	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925	
IFT122	55764	broad.mit.edu	37	3	129177448	129177448	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:129177448G>A	ENST00000348417.2	+	4	277	c.200G>A	c.(199-201)cGc>cAc	p.R67H	IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000347300.2_Missense_Mutation_p.R67H|IFT122_ENST00000296266.3_Missense_Mutation_p.R67H|IFT122_ENST00000507564.1_Missense_Mutation_p.R67H|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000349441.2_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	67					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.R67H(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTAGGCAAGCGCTTTGCTTCT	0.363																																					p.R67H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200A	3						.						96.0	94.0	95.0					3																	129177448		2203	4300	6503	130660138	SO:0001583	missense	55764	exon4			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.200G>A	3.37:g.129177448G>A	ENSP00000324005:p.Arg67His		130660138	NM_052989	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817277	0.90790	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000348417	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.145347	0.48767	D	0.000178	T	0.65186	0.2667	N	0.20328	0.56	0.80722	D	1	D;P;D;D	0.89917	1.0;0.866;0.999;0.999	D;B;P;P	0.83275	0.996;0.272;0.883;0.884	T	0.65911	-0.6053	10	0.42905	T	0.14	-23.3087	19.3048	0.94157	0.0:0.0:1.0:0.0	.	67;67;67;67	E7EQF4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;IF122_HUMAN;.	H	67	ENSP00000323973:R67H;ENSP00000296266:R67H;ENSP00000425536:R67H;ENSP00000324005:R67H	ENSP00000296266:R67H	R	+	2	0	IFT122	130660138	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.940000	0.75917	2.662000	0.90505	0.643000	0.83706	CGC		0.363	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
PLXND1	23129	broad.mit.edu	37	3	129284254	129284254	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:129284254G>A	ENST00000324093.4	-	25	4628	c.4450C>T	c.(4450-4452)Cgg>Tgg	p.R1484W	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1484W	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1484					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1484W(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCTGTGCGCCGCAGCATGAGC	0.607																																					p.R1484W	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4450T	3						.						114.0	101.0	106.0					3																	129284254		2203	4300	6503	130766944	SO:0001583	missense	23129	exon25			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4450C>T	3.37:g.129284254G>A	ENSP00000317128:p.Arg1484Trp		130766944	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505594	0.44558	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.50001	0.76;0.76	4.96	3.14	0.36123	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.123057	0.49916	D	0.000126	T	0.70090	0.3184	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.72141	-0.4380	10	0.87932	D	0	.	9.8472	0.41034	0.0:0.1171:0.5485:0.3344	.	79;1484	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	W	1484	ENSP00000317128:R1484W;ENSP00000376931:R1484W	ENSP00000317128:R1484W	R	-	1	2	PLXND1	130766944	1.000000	0.71417	0.997000	0.53966	0.163000	0.22366	4.368000	0.59505	0.486000	0.27676	-0.304000	0.09214	CGG		0.607	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
PLXND1	23129	broad.mit.edu	37	3	129289655	129289655	+	Missense_Mutation	SNP	C	C	T	rs140631068		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:129289655C>T	ENST00000324093.4	-	19	3902	c.3724G>A	c.(3724-3726)Gcg>Acg	p.A1242T	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1242T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1242					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A1242T(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCACGGCCGCGCCCAGGGAC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17892	0.0		0.0	False		,,,				2504	0.0				p.A1242T	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3724A	3						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	131.0	142.0	138.0		3724	-2.5	0.0	3	dbSNP_134	138	0,8600		0,0,4300	yes	missense	PLXND1	NM_015103.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1242/1926	129289655	1,13005	2203	4300	6503	130772345	SO:0001583	missense	23129	exon19			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3724G>A	3.37:g.129289655C>T	ENSP00000317128:p.Ala1242Thr		130772345	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	2.328	-0.354051	0.05173	2.27E-4	0.0	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.34667	1.4;1.35	4.78	-2.45	0.06481	Immunoglobulin-like fold (1);	0.482216	0.20400	N	0.093061	T	0.10508	0.0257	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35001	-0.9806	10	0.06757	T	0.87	.	7.4293	0.27118	0.1273:0.1403:0.0:0.7324	.	1242	Q9Y4D7	PLXD1_HUMAN	T	1242	ENSP00000317128:A1242T;ENSP00000376931:A1242T	ENSP00000317128:A1242T	A	-	1	0	PLXND1	130772345	0.999000	0.42202	0.000000	0.03702	0.011000	0.07611	0.585000	0.23879	-0.274000	0.09232	0.491000	0.48974	GCG		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
PLXND1	23129	broad.mit.edu	37	3	129290605	129290605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:129290605G>A	ENST00000324093.4	-	16	3338	c.3160C>T	c.(3160-3162)Cgg>Tgg	p.R1054W	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1054W	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1054	IPT/TIG 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1054W(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACGCAGCCCCGACGCTCGAAG	0.677																																					p.R1054W	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3160T	3						.						45.0	45.0	45.0					3																	129290605		2202	4298	6500	130773295	SO:0001583	missense	23129	exon16			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3160C>T	3.37:g.129290605G>A	ENSP00000317128:p.Arg1054Trp		130773295	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381311	0.42207	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.77358	-1.09;-1.09	4.67	1.41	0.22369	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.506470	0.18604	N	0.136351	T	0.81837	0.4907	M	0.66939	2.045	0.09310	N	0.999999	D	0.69078	0.997	P	0.60173	0.87	T	0.71374	-0.4612	10	0.87932	D	0	.	7.8028	0.29185	0.0:0.1118:0.2928:0.5954	.	1054	Q9Y4D7	PLXD1_HUMAN	W	1054	ENSP00000317128:R1054W;ENSP00000376931:R1054W	ENSP00000317128:R1054W	R	-	1	2	PLXND1	130773295	0.006000	0.16342	0.608000	0.28969	0.058000	0.15608	1.611000	0.36879	0.399000	0.25367	-0.264000	0.10439	CGG		0.677	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
COL6A5	256076	broad.mit.edu	37	3	130159223	130159223	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130159223C>A	ENST00000432398.2	+	35	6535	c.6041C>A	c.(6040-6042)tCt>tAt	p.S2014Y	COL6A5_ENST00000265379.6_Missense_Mutation_p.S2014Y	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2014	Nonhelical region.|VWFA 9. {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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S53Y(1)|p.S2014Y(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTGAGCTATTCTCCTTGGGAA	0.413																																					p.S2014Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6041A	3						.						88.0	82.0	84.0					3																	130159223		1870	4103	5973	131641913	SO:0001583	missense	256076	exon35			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.6041C>A	3.37:g.130159223C>A	ENSP00000390895:p.Ser2014Tyr		131641913	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.364|9.364	1.068811|1.068811	0.20147|0.20147	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379	.|T;T	.|0.18960	.|2.18;2.18	5.76|5.76	5.76|5.76	0.90799|0.90799	.|von Willebrand factor, type A (3);	.|0.155915	.|0.30464	.|N	.|0.009568	T|T	0.48589|0.48589	0.1508|0.1508	M|M	0.75615|0.75615	2.305|2.305	0.23406|0.23406	N|N	0.997747|0.997747	.|D;D	.|0.76494	.|0.999;0.993	.|D;P	.|0.69479	.|0.964;0.884	T|T	0.41910|0.41910	-0.9482|-0.9482	5|10	.|0.87932	.|D	.|0	.|.	18.7186|18.7186	0.91685|0.91685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2014;2014	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	L|Y	265|2014	.|ENSP00000390895:S2014Y;ENSP00000265379:S2014Y	.|ENSP00000265379:S2014Y	F|S	+|+	3|2	2|0	COL6A5|COL6A5	131641913|131641913	0.989000|0.989000	0.36119|0.36119	0.996000|0.996000	0.52242|0.52242	0.137000|0.137000	0.21094|0.21094	4.313000|4.313000	0.59160|0.59160	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
COL6A6	131873	broad.mit.edu	37	3	130283848	130283848	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130283848C>T	ENST00000358511.6	+	3	703	c.672C>T	c.(670-672)ggC>ggT	p.G224G	COL6A6_ENST00000453409.2_Silent_p.G224G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	224	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 matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G224G(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						CTTGCCAAGGCCCTTCTATGG	0.423																																					p.G224G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672T	3						.						122.0	119.0	120.0					3																	130283848		1959	4153	6112	131766538	SO:0001819	synonymous_variant	131873	exon3			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.672C>T	3.37:g.130283848C>T			131766538	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130287049	130287049	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130287049G>A	ENST00000358511.6	+	5	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D668N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	668	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.D668N(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						CCAGTTCAGCGACATCAATAA	0.423																																					p.D668N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2002A	3						.						178.0	173.0	175.0					3																	130287049		1922	4127	6049	131769739	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.2002G>A	3.37:g.130287049G>A	ENSP00000351310:p.Asp668Asn		131769739	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	4.358	0.066002	0.08388	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79749	-1.3;-1.3	5.53	-3.41	0.04839	von Willebrand factor, type A (3);	0.427722	0.21922	N	0.067159	T	0.71307	0.3324	L	0.50993	1.605	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.58335	-0.7654	10	0.38643	T	0.18	.	13.4535	0.61184	0.0599:0.6662:0.1805:0.0934	.	668	A6NMZ7	CO6A6_HUMAN	N	668	ENSP00000351310:D668N;ENSP00000399236:D668N	ENSP00000351310:D668N	D	+	1	0	COL6A6	131769739	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.129000	0.10515	-0.601000	0.05783	0.655000	0.94253	GAC		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
PIK3R4	30849	broad.mit.edu	37	3	130400418	130400418	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130400418C>T	ENST00000356763.3	-	17	4182	c.3625G>A	c.(3625-3627)Gaa>Aaa	p.E1209K	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1209					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.E1209K(2)		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						ATGGACACTTCGTTGTTGCCC	0.438																																					p.E1209K												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G3625A	3						.						93.0	92.0	92.0					3																	130400418		2203	4300	6503	131883108	SO:0001583	missense	30849	exon17			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.3625G>A	3.37:g.130400418C>T	ENSP00000349205:p.Glu1209Lys		131883108	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782246	0.90282	.	.	ENSG00000196455	ENST00000356763	T	0.01258	5.09	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.205916	0.49916	D	0.000123	T	0.04907	0.0132	M	0.74647	2.275	0.80722	D	1	D	0.58970	0.984	P	0.47470	0.548	T	0.47598	-0.9105	10	0.35671	T	0.21	-33.3355	20.3166	0.98654	0.0:1.0:0.0:0.0	.	1209	Q99570	PI3R4_HUMAN	K	1209	ENSP00000349205:E1209K	ENSP00000349205:E1209K	E	-	1	0	PIK3R4	131883108	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.594000	0.82698	2.809000	0.96659	0.558000	0.71614	GAA		0.438	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
PIK3R4	30849	broad.mit.edu	37	3	130425801	130425801	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130425801A>C	ENST00000356763.3	-	11	3269	c.2712T>G	c.(2710-2712)acT>acG	p.T904T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	904					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.T904T(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						CCTGTGAAGAAGTTGACAAAG	0.483																																					p.T904T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2712G	3						.						98.0	86.0	90.0					3																	130425801		2203	4300	6503	131908491	SO:0001819	synonymous_variant	30849	exon11			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.2712T>G	3.37:g.130425801A>C			131908491	NM_014602	Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1																																																																																				0.483	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
PIK3R4	30849	broad.mit.edu	37	3	130425904	130425904	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130425904T>G	ENST00000356763.3	-	11	3166	c.2609A>C	c.(2608-2610)aAc>aCc	p.N870T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	870					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.N870T(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						CTGTGGCATGTTTGGTGGGTC	0.438																																					p.N870T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2609C	3						.						132.0	116.0	121.0					3																	130425904		2203	4300	6503	131908594	SO:0001583	missense	30849	exon11			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.2609A>C	3.37:g.130425904T>G	ENSP00000349205:p.Asn870Thr		131908594	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	6.564	0.472364	0.12461	.	.	ENSG00000196455	ENST00000356763	T	0.42513	0.97	5.22	-10.4	0.00318	.	0.867265	0.10380	N	0.681680	T	0.15652	0.0377	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.21655	-1.0239	10	0.26408	T	0.33	-3.8856	9.24	0.37491	0.0:0.2529:0.4981:0.249	.	870	Q99570	PI3R4_HUMAN	T	870	ENSP00000349205:N870T	ENSP00000349205:N870T	N	-	2	0	PIK3R4	131908594	0.254000	0.23992	0.001000	0.08648	0.660000	0.38997	-0.158000	0.10070	-1.513000	0.01789	-0.467000	0.05162	AAC		0.438	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
PIK3R4	30849	broad.mit.edu	37	3	130449229	130449229	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130449229T>G	ENST00000356763.3	-	5	2065	c.1508A>C	c.(1507-1509)aAa>aCa	p.K503T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	503					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.K503T(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						ATTAAGATTTTTTAACTGTAC	0.303																																					p.K503T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1508C	3						.						70.0	75.0	73.0					3																	130449229		2203	4296	6499	131931919	SO:0001583	missense	30849	exon5			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.1508A>C	3.37:g.130449229T>G	ENSP00000349205:p.Lys503Thr		131931919	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.921236	0.52653	.	.	ENSG00000196455	ENST00000356763	T	0.42513	0.97	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.051005	0.85682	D	0.000000	T	0.28632	0.0709	N	0.24115	0.695	0.54753	D	0.999985	B	0.13145	0.007	B	0.10450	0.005	T	0.08166	-1.0735	10	0.12430	T	0.62	-26.2486	14.7726	0.69691	0.0:0.0:0.0:1.0	.	503	Q99570	PI3R4_HUMAN	T	503	ENSP00000349205:K503T	ENSP00000349205:K503T	K	-	2	0	PIK3R4	131931919	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.091000	0.71406	1.955000	0.56771	0.383000	0.25322	AAA		0.303	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
PIK3R4	30849	broad.mit.edu	37	3	130452802	130452802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130452802C>T	ENST00000356763.3	-	4	1597	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	347			R -> W (in dbSNP:rs34797184). {ECO:0000269|PubMed:17344846}.		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.R347L(1)|p.R347Q(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						CAAATCCTTCCGTATAACCAG	0.428																																					p.R347Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1040A	3						.						124.0	126.0	125.0					3																	130452802		2203	4300	6503	131935492	SO:0001583	missense	30849	exon4			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.1040G>A	3.37:g.130452802C>T	ENSP00000349205:p.Arg347Gln		131935492	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807220	0.70797	.	.	ENSG00000196455	ENST00000356763	T	0.32023	1.47	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.055265	0.64402	D	0.000001	T	0.24736	0.0600	L	0.40543	1.245	0.58432	D	0.999993	P	0.46578	0.88	B	0.30572	0.117	T	0.03240	-1.1057	10	0.29301	T	0.29	-32.8319	20.8598	0.99761	0.0:1.0:0.0:0.0	.	347	Q99570	PI3R4_HUMAN	Q	347	ENSP00000349205:R347Q	ENSP00000349205:R347Q	R	-	2	0	PIK3R4	131935492	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.023000	0.70848	2.937000	0.99478	0.650000	0.86243	CGG		0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
PIK3R4	30849	broad.mit.edu	37	3	130452912	130452912	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:130452912C>T	ENST00000356763.3	-	4	1487	c.930G>A	c.(928-930)caG>caA	p.Q310Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.Q310Q(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						TGCCACGCTGCTGTTTTAAGT	0.403																																					p.Q310Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A	3						.						78.0	76.0	77.0					3																	130452912		2203	4294	6497	131935602	SO:0001819	synonymous_variant	30849	exon4			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.930G>A	3.37:g.130452912C>T			131935602	NM_014602	Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1																																																																																				0.403	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
CNTN6	27255	broad.mit.edu	37	3	1371514	1371514	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:1371514T>G	ENST00000446702.2	+	11	1886	c.1259T>G	c.(1258-1260)tTt>tGt	p.F420C	CNTN6_ENST00000539053.1_Missense_Mutation_p.F348C|CNTN6_ENST00000350110.2_Missense_Mutation_p.F420C			Q9UQ52	CNTN6_HUMAN	contactin 6	420	Ig-like C2-type 5.				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.F420C(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)		AAAAAGTCTTTTGTTCAAGTT	0.383																																					p.F420C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1259G	3						.						80.0	83.0	82.0					3																	1371514		2203	4298	6501	1346514	SO:0001583	missense	27255	exon11			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.1259T>G	3.37:g.1371514T>G	ENSP00000407822:p.Phe420Cys		1346514	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968615	0.34754	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.66995	-0.24;-0.24;-0.24	5.71	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.404709	0.20897	N	0.083720	T	0.56470	0.1987	N	0.25890	0.77	0.25246	N	0.989713	P	0.40282	0.711	B	0.43478	0.421	T	0.49031	-0.8981	10	0.40728	T	0.16	.	10.1926	0.43035	0.0:0.075:0.0:0.925	.	420	Q9UQ52	CNTN6_HUMAN	C	420;348;420	ENSP00000407822:F420C;ENSP00000442791:F348C;ENSP00000341882:F420C	ENSP00000341882:F420C	F	+	2	0	CNTN6	1346514	0.993000	0.37304	0.464000	0.27143	0.503000	0.33858	3.990000	0.56965	0.996000	0.38943	0.460000	0.39030	TTT		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
ACPP	55	broad.mit.edu	37	3	132051046	132051046	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:132051046G>A	ENST00000336375.5	+	4	404	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	ACPP_ENST00000351273.7_Missense_Mutation_p.R105Q|ACPP_ENST00000475741.1_Missense_Mutation_p.R105Q|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	105					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.R105Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GTTTATATTCGAAGCACAGAC	0.463																																					p.R105Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G314A	3						.						148.0	147.0	147.0					3																	132051046		2203	4300	6503	133533736	SO:0001583	missense	55	exon4				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.314G>A	3.37:g.132051046G>A	ENSP00000337471:p.Arg105Gln		133533736	NM_001099	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	9.496	1.101942	0.20632	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000475741;ENST00000351273	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.99	3.19	0.36642	.	0.351400	0.24818	N	0.035352	T	0.19327	0.0464	L	0.37750	1.13	0.30560	N	0.764556	P;P;B	0.42584	0.784;0.743;0.262	B;B;B	0.27887	0.084;0.05;0.041	T	0.16247	-1.0409	10	0.17369	T	0.5	.	9.0403	0.36314	0.3064:0.0:0.6936:0.0	.	105;105;105	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	Q	105;76;105;105	ENSP00000337471:R105Q;ENSP00000418366:R76Q;ENSP00000417744:R105Q;ENSP00000323036:R105Q	ENSP00000337471:R105Q	R	+	2	0	ACPP	133533736	0.976000	0.34144	0.478000	0.27316	0.083000	0.17756	1.774000	0.38573	0.393000	0.25203	0.655000	0.94253	CGA		0.463	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099	
STAG1	10274	broad.mit.edu	37	3	136117632	136117632	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:136117632G>A	ENST00000383202.2	-	22	2492	c.2236C>T	c.(2236-2238)Ctt>Ttt	p.L746F	STAG1_ENST00000236698.5_Missense_Mutation_p.L746F|STAG1_ENST00000434713.2_Missense_Mutation_p.L520F|STAG1_ENST00000536929.1_Missense_Mutation_p.L330F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	746					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.L746F(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						AACTGCCAAAGAATCGAATAA	0.328																																					p.L746F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2236T	3						.						73.0	72.0	73.0					3																	136117632		2203	4300	6503	137600322	SO:0001583	missense	10274	exon22			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.2236C>T	3.37:g.136117632G>A	ENSP00000372689:p.Leu746Phe		137600322	NM_005862	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488064	0.84854	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.87180	2.865	0.80722	D	1	D;D	0.71674	0.998;0.992	D;D	0.69479	0.964;0.954	T	0.72811	-0.4180	10	0.49607	T	0.09	.	18.1266	0.89587	0.0:0.0:1.0:0.0	.	746;746	Q6P275;Q8WVM7	.;STAG1_HUMAN	F	746;746;520;330	ENSP00000372689:L746F;ENSP00000236698:L746F;ENSP00000404396:L520F;ENSP00000445787:L330F	ENSP00000236698:L746F	L	-	1	0	STAG1	137600322	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.219000	0.72231	2.576000	0.86940	0.591000	0.81541	CTT		0.328	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
CNTN6	27255	broad.mit.edu	37	3	1415408	1415408	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:1415408G>A	ENST00000446702.2	+	15	2534	c.1907G>A	c.(1906-1908)cGg>cAg	p.R636Q	CNTN6_ENST00000539053.1_Missense_Mutation_p.R564Q|CNTN6_ENST00000350110.2_Missense_Mutation_p.R636Q			Q9UQ52	CNTN6_HUMAN	contactin 6	636	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R636Q(1)|p.R636L(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)		ATTCAGACTCGGACACCATTT	0.378																																					p.R636Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1907A	3						.						70.0	73.0	72.0					3																	1415408		2203	4300	6503	1390408	SO:0001583	missense	27255	exon15			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.1907G>A	3.37:g.1415408G>A	ENSP00000407822:p.Arg636Gln		1390408	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574364	0.86542	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.57436	0.4;0.4;0.4	4.77	3.9	0.45041	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.134947	0.32106	N	0.006580	T	0.72170	0.3427	M	0.81341	2.54	0.43317	D	0.995331	D	0.76494	0.999	D	0.80764	0.994	T	0.76105	-0.3081	10	0.62326	D	0.03	.	13.5216	0.61572	0.0765:0.0:0.9235:0.0	.	636	Q9UQ52	CNTN6_HUMAN	Q	636;564;636	ENSP00000407822:R636Q;ENSP00000442791:R564Q;ENSP00000341882:R636Q	ENSP00000341882:R636Q	R	+	2	0	CNTN6	1390408	1.000000	0.71417	0.970000	0.41538	0.965000	0.64279	7.499000	0.81566	1.133000	0.42147	-0.189000	0.12847	CGG		0.378	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
SLC35G2	80723	broad.mit.edu	37	3	136574042	136574042	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:136574042C>A	ENST00000446465.2	+	2	1368	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.S247Y|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.S247Y(1)									GAAGACAATTCTTTGTTAAAT	0.418																																					p.S247Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C740A	3						.						202.0	191.0	195.0					3																	136574042		2203	4300	6503	138056732	SO:0001583	missense	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.740C>A	3.37:g.136574042C>A	ENSP00000400839:p.Ser247Tyr		138056732	NM_001097599		Missense_Mutation	SNP	ENST00000446465.2	37	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012181	0.75046	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.27402	1.67;1.67	5.87	5.87	0.94306	.	0.244483	0.42548	D	0.000685	T	0.41903	0.1179	L	0.32530	0.975	0.80722	D	1	D	0.58970	0.984	P	0.57371	0.819	T	0.05566	-1.0877	10	0.42905	T	0.14	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	247	Q8TBE7	TMM22_HUMAN	Y	247	ENSP00000400839:S247Y;ENSP00000376794:S247Y	ENSP00000376794:S247Y	S	+	2	0	TMEM22	138056732	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.216000	0.77974	2.785000	0.95823	0.591000	0.81541	TCT		0.418	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
ARMC8	25852	broad.mit.edu	37	3	137928678	137928678	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:137928678G>A	ENST00000469044.1	+	2	336	c.65G>A	c.(64-66)cGc>cAc	p.R22H	ARMC8_ENST00000470821.1_Missense_Mutation_p.R22H|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000471453.1_Missense_Mutation_p.R8H|ARMC8_ENST00000481646.1_Missense_Mutation_p.R8H|ARMC8_ENST00000461822.1_Missense_Mutation_p.R22H|ARMC8_ENST00000538260.1_Missense_Mutation_p.R22H|ARMC8_ENST00000393058.3_Missense_Mutation_p.R12H|ARMC8_ENST00000358441.2_Missense_Mutation_p.R8H|ARMC8_ENST00000489213.1_Intron|ARMC8_ENST00000491704.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	22								p.R8H(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GCTAGCAGTCGCCACTATGTT	0.398																																					p.R8H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G23A	3						.						85.0	85.0	85.0					3																	137928678		2203	4300	6503	139411368	SO:0001583	missense	25852	exon3				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.65G>A	3.37:g.137928678G>A	ENSP00000419413:p.Arg22His		139411368	NM_213654	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37		.	.	.	.	.	.	.	.	.	.	G	25.4	4.639226	0.87760	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000461600;ENST00000358441;ENST00000461822;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058;ENST00000468560	T;T;T;T;T;T;T;T;T;T	0.66638	-0.2;-0.22;1.82;1.7;1.31;1.7;1.64;1.68;1.31;-0.15	5.79	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;0.999	P;D;D;P	0.67382	0.707;0.928;0.951;0.872	T	0.74864	-0.3519	10	0.87932	D	0	-8.1574	11.8832	0.52587	0.0835:0.0:0.9165:0.0	.	22;22;8;8	B7Z441;F5GWK4;Q8IUR7-2;Q8IUR7-6	.;.;.;.	H	8;22;22;8;22;8;22;22;22;12;8	ENSP00000420333:R8H;ENSP00000419413:R22H;ENSP00000418074:R22H;ENSP00000351221:R8H;ENSP00000420706:R22H;ENSP00000420440:R8H;ENSP00000418405:R22H;ENSP00000420719:R22H;ENSP00000441592:R22H;ENSP00000376778:R12H	ENSP00000351221:R8H	R	+	2	0	ARMC8	139411368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.933000	0.75874	2.750000	0.94351	0.563000	0.77884	CGC		0.398	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
ARMC8	25852	broad.mit.edu	37	3	137953896	137953896	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:137953896T>G	ENST00000469044.1	+	7	820	c.549T>G	c.(547-549)atT>atG	p.I183M	ARMC8_ENST00000470821.1_Missense_Mutation_p.I183M|ARMC8_ENST00000485396.1_Missense_Mutation_p.I110M|ARMC8_ENST00000471453.1_Missense_Mutation_p.I169M|ARMC8_ENST00000481646.1_Missense_Mutation_p.I169M|ARMC8_ENST00000461822.1_Missense_Mutation_p.I183M|ARMC8_ENST00000538260.1_Missense_Mutation_p.I152M|ARMC8_ENST00000393058.3_Missense_Mutation_p.I173M|ARMC8_ENST00000358441.2_Missense_Mutation_p.I169M|ARMC8_ENST00000489213.1_Missense_Mutation_p.I141M|ARMC8_ENST00000491704.1_Missense_Mutation_p.I141M	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	183								p.I169M(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATCAAACAATTTTATTTAACC	0.328																																					p.I169M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T507G	3						.						100.0	97.0	98.0					3																	137953896		2203	4300	6503	139436586	SO:0001583	missense	25852	exon8				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.549T>G	3.37:g.137953896T>G	ENSP00000419413:p.Ile183Met		139436586	NM_213654	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.64|13.64	2.298234|2.298234	0.40694|0.40694	.|.	.|.	ENSG00000114098|ENSG00000114098	ENST00000469860|ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461600;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;0.73;0.73;0.73;1.32;1.3;0.73;0.73;0.68;1.3;-0.2;1.55	5.62|5.62	3.27|3.27	0.37495|0.37495	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.097447	.|0.64402	.|D	.|0.000001	T|T	0.48732|0.48732	0.1516|0.1516	L|L	0.34521|0.34521	1.04|1.04	0.49299|0.49299	D|D	0.999778|0.999778	.|B;B;B;B;B;P;P	.|0.36837	.|0.108;0.368;0.173;0.077;0.173;0.571;0.513	.|B;B;B;B;B;B;B	.|0.42138	.|0.133;0.377;0.241;0.134;0.324;0.206;0.221	T|T	0.40942|0.40942	-0.9536|-0.9536	5|10	.|0.36615	.|T	.|0.2	-8.0463|-8.0463	3.3387|3.3387	0.07110|0.07110	0.1697:0.178:0.0:0.6523|0.1697:0.178:0.0:0.6523	.|.	.|110;183;152;183;169;183;169	.|B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.|.;.;.;ARMC8_HUMAN;.;.;.	C|M	40|169;183;141;183;169;141;183;110;169;183;152;152;173;77;40	.|ENSP00000420333:I169M;ENSP00000419413:I183M;ENSP00000417304:I141M;ENSP00000418074:I183M;ENSP00000351221:I169M;ENSP00000418412:I141M;ENSP00000420706:I183M;ENSP00000417049:I110M;ENSP00000420440:I169M;ENSP00000418405:I183M;ENSP00000420719:I152M;ENSP00000441592:I152M;ENSP00000376778:I173M;ENSP00000417403:I77M	.|ENSP00000351221:I169M	F|I	+|+	2|3	0|3	ARMC8|ARMC8	139436586|139436586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.135000|1.135000	0.31454|0.31454	0.972000|0.972000	0.38314|0.38314	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.328	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
CEP70	80321	broad.mit.edu	37	3	138248264	138248264	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:138248264C>T	ENST00000264982.3	-	9	999	c.733G>A	c.(733-735)Gac>Aac	p.D245N	CEP70_ENST00000478673.1_5'Flank|CEP70_ENST00000489254.1_Missense_Mutation_p.D93N|CEP70_ENST00000481834.1_Missense_Mutation_p.D245N|CEP70_ENST00000542237.1_Missense_Mutation_p.D225N|CEP70_ENST00000484888.1_Missense_Mutation_p.D245N	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	245					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.D245N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTCTGTAGTCGTTTTCTTCT	0.294																																					p.D245N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	3						.						139.0	144.0	142.0					3																	138248264		2203	4299	6502	139730954	SO:0001583	missense	80321	exon9			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.733G>A	3.37:g.138248264C>T	ENSP00000264982:p.Asp245Asn		139730954	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616568	0.28801	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419	T;T;T;T;T;T;T;T	0.46451	1.45;1.46;0.87;1.45;1.46;1.45;0.9;0.89	5.17	5.17	0.71159	.	0.168717	0.49916	D	0.000138	T	0.50497	0.1619	M	0.62723	1.935	0.09310	N	1	D;B;B;B	0.61080	0.989;0.003;0.013;0.003	P;B;B;B	0.53490	0.727;0.005;0.004;0.005	T	0.45614	-0.9249	10	0.20046	T	0.44	-9.9356	14.0375	0.64654	0.0:1.0:0.0:0.0	.	93;225;245;245	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	N	245;225;93;245;227;245;224;225	ENSP00000264982:D245N;ENSP00000444128:D225N;ENSP00000417821:D93N;ENSP00000419231:D245N;ENSP00000419833:D227N;ENSP00000417465:D245N;ENSP00000418131:D224N;ENSP00000417819:D225N	ENSP00000264982:D245N	D	-	1	0	CEP70	139730954	0.034000	0.19679	0.030000	0.17652	0.555000	0.35460	1.041000	0.30291	2.681000	0.91329	0.650000	0.86243	GAC		0.294	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
CNTN6	27255	broad.mit.edu	37	3	1444107	1444107	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:1444107A>C	ENST00000446702.2	+	22	3550	c.2923A>C	c.(2923-2925)Aga>Cga	p.R975R	CNTN6_ENST00000539053.1_Silent_p.R903R|CNTN6_ENST00000350110.2_Silent_p.R975R			Q9UQ52	CNTN6_HUMAN	contactin 6	975	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R975R(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)		AATTGAAATAAGAACAGTCAG	0.383																																					p.R975R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2923C	3						.						110.0	109.0	109.0					3																	1444107		2203	4299	6502	1419107	SO:0001819	synonymous_variant	27255	exon22			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.2923A>C	3.37:g.1444107A>C			1419107	NM_014461	Q2KHM2	Silent	SNP	ENST00000446702.2	37	CCDS2557.1																																																																																				0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
CNTN6	27255	broad.mit.edu	37	3	1445053	1445053	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:1445053C>A	ENST00000446702.2	+	23	3665	c.3038C>A	c.(3037-3039)tCc>tAc	p.S1013Y	CNTN6_ENST00000539053.1_Missense_Mutation_p.S941Y|CNTN6_ENST00000350110.2_Missense_Mutation_p.S1013Y			Q9UQ52	CNTN6_HUMAN	contactin 6	1013					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.S1013Y(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)		CATTTTCTTTCCATTGTCATT	0.303																																					p.S1013Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3038A	3						.						88.0	85.0	86.0					3																	1445053		2203	4300	6503	1420053	SO:0001583	missense	27255	exon23			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.3038C>A	3.37:g.1445053C>A	ENSP00000407822:p.Ser1013Tyr		1420053	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	7.148	0.583127	0.13749	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.61980	0.06;0.08;0.06	5.09	4.22	0.49857	.	2.229260	0.02243	N	0.065952	T	0.61426	0.2346	L	0.54323	1.7	0.09310	N	1	B	0.33448	0.412	B	0.31614	0.133	T	0.51710	-0.8671	10	0.72032	D	0.01	.	8.671	0.34149	0.0:0.824:0.0:0.176	.	1013	Q9UQ52	CNTN6_HUMAN	Y	1013;941;1013	ENSP00000407822:S1013Y;ENSP00000442791:S941Y;ENSP00000341882:S1013Y	ENSP00000341882:S1013Y	S	+	2	0	CNTN6	1420053	0.023000	0.18921	0.007000	0.13788	0.117000	0.20001	1.836000	0.39191	1.137000	0.42214	0.650000	0.86243	TCC		0.303	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
PRR23B	389151	broad.mit.edu	37	3	138739247	138739247	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:138739247G>A	ENST00000329447.5	-	1	521	c.257C>T	c.(256-258)tCg>tTg	p.S86L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	86								p.S86L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGCAGGATCGACGTTGGTGC	0.667																																					p.S86L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C257T	3						.						40.0	36.0	37.0					3																	138739247		2203	4300	6503	140221937	SO:0001583	missense	389151	exon1			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.257C>T	3.37:g.138739247G>A	ENSP00000328768:p.Ser86Leu		140221937	NM_001013650	B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940716	0.52972	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.26	1.26	0.21427	.	1.270670	0.05818	N	0.615315	T	0.64724	0.2624	M	0.70275	2.135	0.09310	N	1	D	0.76494	0.999	D	0.62955	0.909	T	0.48937	-0.8990	9	0.87932	D	0	.	8.9014	0.35497	0.0:0.4552:0.5448:0.0	.	86	Q6ZRT6	PR23B_HUMAN	L	86	.	ENSP00000328768:S86L	S	-	2	0	PRR23B	140221937	0.008000	0.16893	0.001000	0.08648	0.013000	0.08279	0.926000	0.28804	0.319000	0.23209	0.491000	0.48974	TCG		0.667	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650	
XRN1	54464	broad.mit.edu	37	3	142137675	142137675	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:142137675C>T	ENST00000264951.4	-	11	1339	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000392981.2_Missense_Mutation_p.E408K|XRN1_ENST00000544157.1_Missense_Mutation_p.E198K|XRN1_ENST00000463916.1_Missense_Mutation_p.E408K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	408					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.E408K(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						GTTATCATTTCGCCTTCATTT	0.294																																					p.E408K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1222A	3						.						98.0	94.0	96.0					3																	142137675		2201	4298	6499	143620365	SO:0001583	missense	54464	exon11			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.1222G>A	3.37:g.142137675C>T	ENSP00000264951:p.Glu408Lys		143620365	NM_019001	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741494	0.30865	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.63	4.75	0.60458	.	0.462911	0.24366	N	0.039146	T	0.67373	0.2886	L	0.51422	1.61	0.32035	N	0.598982	B;B;B;B;B	0.18863	0.001;0.008;0.013;0.031;0.018	B;B;B;B;B	0.19946	0.001;0.003;0.003;0.027;0.002	T	0.64283	-0.6444	10	0.10636	T	0.68	-13.9408	14.9747	0.71261	0.0:0.8579:0.1421:0.0	.	198;408;269;408;408	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	K	408;408;408;198	ENSP00000264951:E408K;ENSP00000376707:E408K;ENSP00000418404:E408K;ENSP00000444310:E198K	ENSP00000264951:E408K	E	-	1	0	XRN1	143620365	0.000000	0.05858	0.326000	0.25389	0.691000	0.40173	0.124000	0.15728	1.352000	0.45808	0.460000	0.39030	GAA		0.294	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
ATR	545	broad.mit.edu	37	3	142266743	142266743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:142266743C>A	ENST00000350721.4	-	16	3302	c.3181G>T	c.(3181-3183)Gaa>Taa	p.E1061*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E997*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1061					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1061*(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGTTCAATTTCTGTTTCATTC	0.313								Other conserved DNA damage response genes																													p.E1061X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3181T	3						.						71.0	74.0	73.0					3																	142266743		2203	4300	6503	143749433	SO:0001587	stop_gained	545	exon16			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3181G>T	3.37:g.142266743C>A	ENSP00000343741:p.Glu1061*		143749433	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	43	9.847477	0.99279	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-23.3274	20.2566	0.98424	0.0:1.0:0.0:0.0	.	.	.	.	X	1061;997	.	ENSP00000343741:E1061X	E	-	1	0	ATR	143749433	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.999000	0.70665	2.793000	0.96121	0.561000	0.74099	GAA		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	broad.mit.edu	37	3	142274801	142274801	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:142274801A>G	ENST00000350721.4	-	10	2380	c.2259T>C	c.(2257-2259)tgT>tgC	p.C753C	ATR_ENST00000383101.3_Silent_p.C689C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	753					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C753C(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAGAAGATGAACATTCATGTT	0.378								Other conserved DNA damage response genes																													p.C753C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2259C	3						.						131.0	131.0	131.0					3																	142274801		2203	4300	6503	143757491	SO:0001819	synonymous_variant	545	exon10			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2259T>C	3.37:g.142274801A>G			143757491	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	CCDS3124.1																																																																																				0.378	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
PLS1	5357	broad.mit.edu	37	3	142430384	142430384	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:142430384A>C	ENST00000337777.3	+	15	1884	c.1671A>C	c.(1669-1671)atA>atC	p.I557I	PLS1_ENST00000497002.1_Silent_p.I557I|PLS1_ENST00000457734.2_Silent_p.I557I	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	557	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.I557I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TAGATTTAATAGATGCCATTG	0.328																																					p.I557I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1671C	3						.						85.0	84.0	84.0					3																	142430384		2203	4300	6503	143913074	SO:0001819	synonymous_variant	5357	exon15			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1671A>C	3.37:g.142430384A>C			143913074	NM_002670	A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	ENST00000337777.3	37	CCDS3125.1																																																																																				0.328	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	
TRPC1	7220	broad.mit.edu	37	3	142499818	142499818	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:142499818G>A	ENST00000476941.1	+	6	1393	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	TRPC1_ENST00000273482.6_Missense_Mutation_p.E269K	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	303					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.E269K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATTATTAGAAGAAAGAATGAA	0.343																																					p.E269K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G805A	3						.						57.0	60.0	59.0					3																	142499818		2203	4300	6503	143982508	SO:0001583	missense	7220	exon5			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.907G>A	3.37:g.142499818G>A	ENSP00000419313:p.Glu303Lys		143982508	NM_003304	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868488	0.72065	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.42131	0.98;0.98	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	N	0.22421	0.69	0.80722	D	1	P;B	0.52842	0.956;0.143	D;B	0.65010	0.931;0.098	T	0.32161	-0.9917	10	0.21540	T	0.41	-29.3117	20.04	0.97581	0.0:0.0:1.0:0.0	.	303;269	P48995;P48995-2	TRPC1_HUMAN;.	K	303;269	ENSP00000419313:E303K;ENSP00000273482:E269K	ENSP00000273482:E269K	E	+	1	0	TRPC1	143982508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	GAA		0.343	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	
U2SURP	23350	broad.mit.edu	37	3	142773838	142773838	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:142773838G>A	ENST00000473835.2	+	27	2918	c.2828G>A	c.(2827-2829)cGa>cAa	p.R943Q	U2SURP_ENST00000397933.2_Missense_Mutation_p.R534Q|U2SURP_ENST00000493598.2_Missense_Mutation_p.R942Q	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	943	Arg/Ser-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R943Q(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						AGTGGTAGACGAGTGAAATCC	0.488																																					p.R943Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2828A	3						.						69.0	64.0	66.0					3																	142773838		1927	4140	6067	144256528	SO:0001583	missense	23350	exon27			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.2828G>A	3.37:g.142773838G>A	ENSP00000418563:p.Arg943Gln		144256528	NM_001080415	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983809	0.93044	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	T;T;T	0.41065	1.01;1.01;1.01	5.64	5.64	0.86602	.	0.058058	0.64402	D	0.000001	T	0.58424	0.2121	L	0.43152	1.355	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.66847	0.947;0.947;0.885	T	0.54990	-0.8210	10	0.51188	T	0.08	-6.2399	20.0627	0.97684	0.0:0.0:1.0:0.0	.	942;534;943	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	Q	943;943;534;942	ENSP00000418563:R943Q;ENSP00000381027:R534Q;ENSP00000422011:R942Q	ENSP00000322376:R943Q	R	+	2	0	U2SURP	144256528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.168000	0.94781	2.816000	0.96949	0.563000	0.77884	CGA		0.488	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
SLC9A9	285195	broad.mit.edu	37	3	143185997	143185997	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:143185997G>A	ENST00000316549.6	-	12	1559	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	451					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.R451W(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCTGTGTTCCGAATAGCTAAG	0.448																																					p.R451W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1351T	3						.						142.0	121.0	128.0					3																	143185997		2203	4300	6503	144668687	SO:0001583	missense	285195	exon12			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.1351C>T	3.37:g.143185997G>A	ENSP00000320246:p.Arg451Trp		144668687	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956039	0.73902	.	.	ENSG00000181804	ENST00000316549	T	0.33865	1.39	5.71	4.83	0.62350	Cation/H+ exchanger (1);	0.085760	0.48767	D	0.000177	T	0.65544	0.2701	M	0.89601	3.045	0.50467	D	0.999879	D	0.89917	1.0	D	0.70935	0.971	T	0.73678	-0.3907	10	0.72032	D	0.01	.	13.7262	0.62759	0.0:0.0:0.7195:0.2805	.	451	Q8IVB4	SL9A9_HUMAN	W	451	ENSP00000320246:R451W	ENSP00000320246:R451W	R	-	1	2	SLC9A9	144668687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.227000	0.65305	1.403000	0.46800	0.655000	0.94253	CGG		0.448	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
CCDC174	51244	broad.mit.edu	37	3	14697119	14697119	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:14697119G>T	ENST00000383794.3	+	3	304	c.231G>T	c.(229-231)aaG>aaT	p.K77N	CCDC174_ENST00000303688.7_Missense_Mutation_p.K77N	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	77						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K77N(1)									AAGAACAGAAGACTTTAGACA	0.378																																					p.K77N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G231T	3						.						82.0	78.0	79.0					3																	14697119		1824	4084	5908	14672123	SO:0001583	missense	51244	exon3			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.231G>T	3.37:g.14697119G>T	ENSP00000373304:p.Lys77Asn		14672123	NM_016474	Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	8.659	0.900072	0.17686	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.46063	0.91;0.88	5.34	4.46	0.54185	.	0.338132	0.30428	N	0.009651	T	0.17916	0.0430	N	0.11064	0.09	0.31021	N	0.718096	B	0.16396	0.017	B	0.09377	0.004	T	0.18681	-1.0329	10	0.09590	T	0.72	-18.6352	5.1654	0.15082	0.1587:0.1865:0.6548:0.0	.	77	Q6PII3	CC019_HUMAN	N	77	ENSP00000373304:K77N;ENSP00000302344:K77N	ENSP00000302344:K77N	K	+	3	2	C3orf19	14672123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.235000	0.32671	2.498000	0.84270	0.460000	0.39030	AAG		0.378	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474	
CCDC174	51244	broad.mit.edu	37	3	14708359	14708359	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:14708359G>T	ENST00000383794.3	+	7	702	c.629G>T	c.(628-630)aGa>aTa	p.R210I	CCDC174_ENST00000303688.7_Missense_Mutation_p.R210I	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	210						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R210I(1)									GAAGATATGAGAAAAGAACTT	0.413																																					p.R210I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G629T	3						.						110.0	128.0	122.0					3																	14708359		2203	4300	6503	14683363	SO:0001583	missense	51244	exon7			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.629G>T	3.37:g.14708359G>T	ENSP00000373304:p.Arg210Ile		14683363	NM_016474	Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693325	0.68386	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.50001	0.85;0.76	5.43	3.61	0.41365	.	0.111625	0.64402	D	0.000014	T	0.58221	0.2107	L	0.52759	1.655	0.46701	D	0.99916	D	0.69078	0.997	D	0.65987	0.94	T	0.60801	-0.7191	10	0.87932	D	0	-21.5209	11.4227	0.49991	0.1354:0.0:0.8646:0.0	.	210	Q6PII3	CC019_HUMAN	I	210;210;113	ENSP00000373304:R210I;ENSP00000302344:R210I	ENSP00000285042:R113I	R	+	2	0	C3orf19	14683363	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.581000	0.53914	2.550000	0.86006	0.591000	0.81541	AGA		0.413	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474	
C3orf58	205428	broad.mit.edu	37	3	143704674	143704674	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:143704674G>T	ENST00000315691.3	+	2	1482	c.947G>T	c.(946-948)aGa>aTa	p.R316I	C3orf58_ENST00000495414.1_Missense_Mutation_p.R107I|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.R78I	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	316					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.R316I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGACAAAAGATTAATTAGA	0.323																																					p.R316I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G947T	3						.						84.0	82.0	83.0					3																	143704674		2203	4300	6503	145187364	SO:0001583	missense	205428	exon2			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.947G>T	3.37:g.143704674G>T	ENSP00000320081:p.Arg316Ile		145187364	NM_173552	B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580486	0.46006	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.33438	1.41	5.12	4.23	0.50019	.	0.091701	0.64402	D	0.000001	T	0.23094	0.0558	L	0.42245	1.32	0.58432	D	0.999998	B;P	0.40794	0.194;0.729	B;B	0.35688	0.064;0.208	T	0.02519	-1.1147	10	0.37606	T	0.19	.	10.197	0.43060	0.1533:0.0:0.8467:0.0	.	107;316	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	I	316;107;122;78	ENSP00000320081:R316I	ENSP00000320081:R316I	R	+	2	0	C3orf58	145187364	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.471000	0.73562	2.392000	0.81423	0.563000	0.77884	AGA		0.323	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
PLOD2	5352	broad.mit.edu	37	3	145809604	145809604	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:145809604C>T	ENST00000360060.3	-	8	1039	c.862G>A	c.(862-864)Gac>Aac	p.D288N	PLOD2_ENST00000494950.1_Missense_Mutation_p.D233N|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.D288N	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	288					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.D288N(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)	GCAGACAAGTCGACTGTATCG	0.343																																					p.D288N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G862A	3						.						100.0	88.0	92.0					3																	145809604		2203	4299	6502	147292294	SO:0001583	missense	5352	exon8			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.862G>A	3.37:g.145809604C>T	ENSP00000353170:p.Asp288Asn		147292294	NM_000935	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558753	0.27827	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	T;T;T	0.64618	-0.11;-0.1;-0.11	6.06	5.2	0.72013	.	0.041188	0.85682	N	0.000000	T	0.69269	0.3092	L	0.35487	1.065	0.80722	D	1	D;P;B	0.89917	1.0;0.598;0.331	D;B;B	0.85130	0.997;0.059;0.036	T	0.68239	-0.5461	10	0.35671	T	0.21	-27.1609	14.17	0.65503	0.0:0.9276:0.0:0.0724	.	233;288;288	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	N	288;288;233	ENSP00000282903:D288N;ENSP00000353170:D288N;ENSP00000420094:D233N	ENSP00000282903:D288N	D	-	1	0	PLOD2	147292294	1.000000	0.71417	0.946000	0.38457	0.049000	0.14656	4.736000	0.62059	1.580000	0.49851	0.650000	0.86243	GAC		0.343	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935	
PLSCR2	57047	broad.mit.edu	37	3	146176228	146176228	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:146176228G>T	ENST00000497985.1	-	5	728	c.289C>A	c.(289-291)Cta>Ata	p.L97I	PLSCR2_ENST00000336685.2_Missense_Mutation_p.L24I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	97					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.L24I(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGATGAATTAGTATCATATCT	0.234																																					p.L24I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C70A	3						.						20.0	21.0	20.0					3																	146176228		2146	4228	6374	147658918	SO:0001583	missense	57047	exon4				CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.289C>A	3.37:g.146176228G>T	ENSP00000420132:p.Leu97Ile		147658918	NM_020359	B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	12.44	1.937300	0.34189	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.24151	1.87;1.87;1.87	3.69	-7.37	0.01412	.	0.208186	0.19986	U	0.101670	T	0.31638	0.0803	M	0.78344	2.41	0.19300	N	0.999979	D;P	0.57899	0.981;0.923	D;P	0.63957	0.92;0.645	T	0.09122	-1.0689	10	0.27082	T	0.32	.	0.7863	0.01049	0.2875:0.2017:0.1108:0.3999	.	117;24	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	I	24;116;97;24	ENSP00000338707:L24I;ENSP00000420132:L97I;ENSP00000418444:L24I	ENSP00000338707:L24I	L	-	1	2	PLSCR2	147658918	0.005000	0.15991	0.000000	0.03702	0.029000	0.11900	0.132000	0.15891	-1.314000	0.02300	-0.176000	0.13171	CTA		0.234	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	
PLSCR1	5359	broad.mit.edu	37	3	146239417	146239417	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:146239417T>C	ENST00000342435.4	-	7	1062	c.652A>G	c.(652-654)Aca>Gca	p.T218A	PLSCR1_ENST00000448787.2_Missense_Mutation_p.T137A|PLSCR1_ENST00000487389.1_Missense_Mutation_p.T211A|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	218					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)	p.T218A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TTTTGAATTGTAAACTTTGGT	0.368																																					p.T218A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A652G	3						.						167.0	163.0	164.0					3																	146239417		2203	4300	6503	147722107	SO:0001583	missense	5359	exon7			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.652A>G	3.37:g.146239417T>C	ENSP00000345494:p.Thr218Ala		147722107	NM_021105	B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.292022	0.40594	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666;ENST00000486631;ENST00000472349	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.17	4.0	0.46444	.	0.163302	0.20872	U	0.084144	T	0.29158	0.0725	M	0.71206	2.165	0.39928	D	0.974242	B;P	0.36110	0.039;0.537	B;B	0.42245	0.083;0.381	T	0.11991	-1.0565	10	0.45353	T	0.12	.	11.0486	0.47874	0.0:0.0742:0.0:0.9258	.	137;218	B4DTE8;O15162	.;PLS1_HUMAN	A	218;211;137;194;137;218	ENSP00000345494:T218A;ENSP00000417792:T211A;ENSP00000411675:T137A;ENSP00000418103:T194A;ENSP00000418550:T137A;ENSP00000420523:T218A	ENSP00000345494:T218A	T	-	1	0	PLSCR1	147722107	0.475000	0.25894	0.522000	0.27862	0.983000	0.72400	1.522000	0.35921	1.952000	0.56665	0.528000	0.53228	ACA		0.368	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105	
PLSCR5	389158	broad.mit.edu	37	3	146307445	146307445	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:146307445G>T	ENST00000443512.1	-	6	1775	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	PLSCR5_ENST00000482567.1_Missense_Mutation_p.L246I|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Missense_Mutation_p.L258I	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	258								p.L258I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CTTACAAAGAGAAAACAGGCA	0.378																																					p.L258I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C772A	3						.						134.0	126.0	128.0					3																	146307445		1893	4126	6019	147790135	SO:0001583	missense	389158	exon6			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.772C>A	3.37:g.146307445G>T	ENSP00000390111:p.Leu258Ile		147790135	NM_001085420	B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445288	0.63178	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.26957	1.7;1.7;1.7	5.26	5.26	0.73747	Tubby, C-terminal (1);	.	.	.	.	T	0.69691	0.3139	H	0.98314	4.2	0.52501	D	0.999957	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.951	T	0.82912	-0.0222	9	0.66056	D	0.02	-8.4791	18.8599	0.92267	0.0:0.0:1.0:0.0	.	246;258	B2RXK5;A0PG75	.;PLS5_HUMAN	I	258;246;258	ENSP00000417184:L258I;ENSP00000418626:L246I;ENSP00000390111:L258I	ENSP00000390111:L258I	L	-	1	0	PLSCR5	147790135	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	6.297000	0.72757	2.460000	0.83146	0.557000	0.71058	CTC		0.378	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670	
ZIC4	84107	broad.mit.edu	37	3	147108958	147108958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:147108958G>A	ENST00000383075.3	-	4	1276	c.764C>T	c.(763-765)tCg>tTg	p.S255L	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.S293L|ZIC4_ENST00000473123.1_Missense_Mutation_p.S255L|ZIC4_ENST00000525172.2_Missense_Mutation_p.S305L|ZIC4_ENST00000484399.1_Missense_Mutation_p.S255L|ZIC4_ENST00000491672.1_Missense_Mutation_p.S49L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	255						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S255L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGCACGTGCGAATGCTTCTT	0.612																																					p.S305L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C914T	3						.						38.0	41.0	40.0					3																	147108958		2201	4300	6501	148591648	SO:0001583	missense	84107	exon4			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.764C>T	3.37:g.147108958G>A	ENSP00000372553:p.Ser255Leu		148591648	NM_001168378	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488042	0.96323	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.13420	3.4;2.59;2.59;3.4;3.4;3.4	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000983	T	0.10981	0.0268	N	0.02412	-0.56	0.47276	D	0.999375	P;D	0.67145	0.81;0.996	B;P	0.50617	0.259;0.646	T	0.46247	-0.9205	9	0.66056	D	0.02	.	18.1785	0.89769	0.0:0.0:1.0:0.0	.	305;255	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	L	255;293;305;255;255;49	ENSP00000372553:S255L;ENSP00000397695:S293L;ENSP00000435509:S305L;ENSP00000417855:S255L;ENSP00000420775:S255L;ENSP00000418277:S49L	ENSP00000372553:S255L	S	-	2	0	ZIC4	148591648	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.126000	0.57937	2.277000	0.76020	0.462000	0.41574	TCG		0.612	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
CP	1356	broad.mit.edu	37	3	148896375	148896375	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:148896375C>A	ENST00000264613.6	-	16	2967	c.2705G>T	c.(2704-2706)aGa>aTa	p.R902I		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	902	F5/8 type A 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.R902I(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CAAGTAAGGTCTTCGACAAAC	0.388																																					p.R902I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2705T	3						.						64.0	59.0	61.0					3																	148896375		2203	4300	6503	150379065	SO:0001583	missense	1356	exon16			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2705G>T	3.37:g.148896375C>A	ENSP00000264613:p.Arg902Ile		150379065	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252108	0.22880	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.98807	-5.15;-5.15;-5.15	5.45	-10.9	0.00192	Cupredoxin (2);	0.786737	0.12655	N	0.450127	D	0.96234	0.8772	M	0.73372	2.23	0.32489	N	0.540407	B;P;B;B	0.37330	0.072;0.59;0.234;0.107	B;B;B;B	0.36608	0.077;0.229;0.212;0.212	D	0.89816	0.3985	10	0.87932	D	0	-6.7471	9.8914	0.41292	0.0:0.2398:0.1743:0.5859	.	902;902;902;615	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	I	37;902;685	ENSP00000420367:R37I;ENSP00000264613:R902I;ENSP00000420545:R685I	ENSP00000264613:R902I	R	-	2	0	CP	150379065	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.514000	0.02254	-2.668000	0.00415	-0.834000	0.03071	AGA		0.388	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
CP	1356	broad.mit.edu	37	3	148930456	148930456	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:148930456C>T	ENST00000264613.6	-	2	438	c.176G>A	c.(175-177)gGc>gAc	p.G59D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	59	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.G59D(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCTATCTGGGCCATTTTGAAG	0.363																																					p.G59D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	3						.						60.0	61.0	61.0					3																	148930456		2203	4300	6503	150413146	SO:0001583	missense	1356	exon2			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.176G>A	3.37:g.148930456C>T	ENSP00000264613:p.Gly59Asp		150413146	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272010	0.59649	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.98996	-5.31;-5.31	5.42	4.55	0.56014	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	L	0.61218	1.895	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.68353	0.957;0.957	D	0.99123	1.0850	10	0.40728	T	0.16	-9.6898	14.3952	0.67005	0.0:0.9293:0.0:0.0707	.	59;59	A8K5A4;P00450	.;CERU_HUMAN	D	59;99	ENSP00000264613:G59D;ENSP00000426888:G99D	ENSP00000264613:G59D	G	-	2	0	CP	150413146	0.978000	0.34361	0.236000	0.24074	0.962000	0.63368	3.298000	0.51818	1.526000	0.49068	0.563000	0.77884	GGC		0.363	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
SIAH2	6478	broad.mit.edu	37	3	150460159	150460159	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:150460159G>A	ENST00000312960.3	-	2	1271	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	248	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.I248I(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)			TGAGCAGGACGATGGCAAAAA	0.547																																					p.I248I												SIAH2,lung,NS,Substitution - Missense,-1 	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	3						.						94.0	80.0	85.0					3																	150460159		2203	4300	6503	151942849	SO:0001819	synonymous_variant	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.744C>T	3.37:g.150460159G>A			151942849	NM_005067	O43270	Silent	SNP	ENST00000312960.3	37	CCDS3152.1																																																																																				0.547	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067	
P2RY14	9934	broad.mit.edu	37	3	150931150	150931150	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:150931150C>G	ENST00000309170.3	-	3	1267	c.955G>C	c.(955-957)Gac>Cac	p.D319H	P2RY14_ENST00000424796.2_Missense_Mutation_p.D319H|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	319					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)	p.D319H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTCTAGGTCATTCTGAGCT	0.378																																					p.D319H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G955C	3						.						157.0	157.0	157.0					3																	150931150		2203	4300	6503	152413840	SO:0001583	missense	9934	exon3			D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.955G>C	3.37:g.150931150C>G	ENSP00000308361:p.Asp319His		152413840	NM_014879	Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	5.604	0.296159	0.10622	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.68903	-0.36;-0.36	5.36	4.29	0.51040	.	0.735656	0.12515	N	0.462102	T	0.47911	0.1471	N	0.08118	0	0.09310	N	1	B	0.31989	0.35	B	0.34138	0.176	T	0.40627	-0.9553	10	0.41790	T	0.15	-18.4842	11.4432	0.50109	0.0:0.8451:0.0:0.1549	.	319	Q15391	P2Y14_HUMAN	H	319	ENSP00000308361:D319H;ENSP00000408733:D319H	ENSP00000308361:D319H	D	-	1	0	P2RY14	152413840	0.000000	0.05858	0.051000	0.19133	0.205000	0.24178	0.722000	0.25925	2.511000	0.84671	0.650000	0.86243	GAC		0.378	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879	
P2RY13	53829	broad.mit.edu	37	3	151046337	151046337	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:151046337G>T	ENST00000325602.5	-	2	526	c.507C>A	c.(505-507)ttC>ttA	p.F169L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	169					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.F148L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AGAACAAAAAGAACCAGATGA	0.408																																					p.F169L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C507A	3						.						43.0	46.0	45.0					3																	151046337		2203	4300	6503	152529027	SO:0001583	missense	53829	exon2			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.507C>A	3.37:g.151046337G>T	ENSP00000320376:p.Phe169Leu		152529027	NM_176894	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.294307	0.00245	.	.	ENSG00000181631	ENST00000325602	T	0.32023	1.47	5.45	0.432	0.16529	GPCR, rhodopsin-like superfamily (1);	1.357460	0.04556	N	0.390794	T	0.07908	0.0198	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28996	-1.0026	10	0.10636	T	0.68	-0.0866	6.113	0.20112	0.331:0.1226:0.5464:0.0	.	169	Q9BPV8	P2Y13_HUMAN	L	169	ENSP00000320376:F169L	ENSP00000320376:F169L	F	-	3	2	P2RY13	152529027	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.146000	0.10250	0.265000	0.21872	-0.252000	0.11476	TTC		0.408	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914	
P2RY12	64805	broad.mit.edu	37	3	151056498	151056498	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:151056498C>T	ENST00000302632.3	-	3	435	c.136G>A	c.(136-138)Gcg>Acg	p.A46T	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	46					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A46T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	ATCCTCATCGCCAGGCCATTT	0.393																																					p.A46T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G136A	3						.						60.0	61.0	61.0					3																	151056498		2203	4300	6503	152539188	SO:0001583	missense	64805	exon3			AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.136G>A	3.37:g.151056498C>T	ENSP00000307259:p.Ala46Thr		152539188	NM_022788	D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857937	0.91433	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.37235	1.21	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59209	-0.7497	10	0.56958	D	0.05	-16.9476	19.0551	0.93059	0.0:1.0:0.0:0.0	.	46;46	A8K7T1;Q9H244	.;P2Y12_HUMAN	T	46	ENSP00000307259:A46T	ENSP00000307259:A46T	A	-	1	0	P2RY12	152539188	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.076000	0.76806	2.571000	0.86741	0.650000	0.86243	GCG		0.393	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1		
MED12L	116931	broad.mit.edu	37	3	151082823	151082823	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:151082823C>T	ENST00000474524.1	+	20	2947	c.2909C>T	c.(2908-2910)tCg>tTg	p.S970L	MED12L_ENST00000273432.4_Missense_Mutation_p.S830L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	970						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S970L(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)			CCTGCAAATTCGAACTTGCGA	0.383																																					p.S970L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2909T	3						.						168.0	175.0	172.0					3																	151082823		2203	4300	6503	152565513	SO:0001583	missense	116931	exon20			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.2909C>T	3.37:g.151082823C>T	ENSP00000417235:p.Ser970Leu		152565513	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761279	0.69763	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.79141	-1.24;-1.24	5.6	5.6	0.85130	.	0.110627	0.64402	D	0.000005	D	0.84986	0.5594	L	0.43152	1.355	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	P;D;D	0.72982	0.847;0.979;0.968	D	0.85685	0.1303	10	0.87932	D	0	-19.5464	19.5844	0.95485	0.0:1.0:0.0:0.0	.	830;969;970	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	L	970;830	ENSP00000417235:S970L;ENSP00000273432:S830L	ENSP00000273432:S830L	S	+	2	0	MED12L	152565513	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.532000	0.67154	2.786000	0.95864	0.650000	0.86243	TCG		0.383	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
CAPN7	23473	broad.mit.edu	37	3	15283696	15283696	+	Silent	SNP	G	G	A	rs531043006		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:15283696G>A	ENST00000253693.2	+	16	2053	c.1800G>A	c.(1798-1800)gcG>gcA	p.A600A		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	600	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.A600A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ATGATTTTGCGAATAATCGAG	0.299													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15987	0.0		0.0	False		,,,				2504	0.0				p.A600A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1800A	3						.						76.0	75.0	75.0					3																	15283696		2202	4292	6494	15258700	SO:0001819	synonymous_variant	23473	exon16			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.1800G>A	3.37:g.15283696G>A			15258700	NM_014296		Silent	SNP	ENST00000253693.2	37	CCDS2624.1																																																																																				0.299	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296	
MED12L	116931	broad.mit.edu	37	3	151094789	151094789	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:151094789C>T	ENST00000474524.1	+	28	4072	c.4034C>T	c.(4033-4035)tCt>tTt	p.S1345F	MED12L_ENST00000273432.4_Missense_Mutation_p.S1205F|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1345						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S1345F(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)			GGCTCTGGTTCTGTGGCCGAA	0.363																																					p.S1345F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4034T	3						.						76.0	76.0	76.0					3																	151094789		2203	4300	6503	152577479	SO:0001583	missense	116931	exon28			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.4034C>T	3.37:g.151094789C>T	ENSP00000417235:p.Ser1345Phe		152577479	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234391	0.79800	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62364	0.23;0.03	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000039	T	0.63908	0.2551	L	0.27053	0.805	0.80722	D	1	P;D;D	0.60160	0.919;0.987;0.978	P;P;P	0.57776	0.584;0.827;0.675	T	0.66428	-0.5926	10	0.72032	D	0.01	-14.9882	13.1953	0.59734	0.0:0.9268:0.0:0.0732	.	1205;1344;1345	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	F	1345;1205	ENSP00000417235:S1345F;ENSP00000273432:S1205F	ENSP00000273432:S1205F	S	+	2	0	MED12L	152577479	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	5.146000	0.64845	2.798000	0.96311	0.655000	0.94253	TCT		0.363	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
IGSF10	285313	broad.mit.edu	37	3	151154763	151154763	+	Missense_Mutation	SNP	C	C	T	rs146905174		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:151154763C>T	ENST00000282466.3	-	6	7585	c.7586G>A	c.(7585-7587)cGa>cAa	p.R2529Q	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	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	2529	Ig-like C2-type 12.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R2529Q(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)			ATTTGTAATTCGGGGAGGGTA	0.478																																					p.R556Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1667A	3						.	C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	97.0	98.0		1667,1523,7586	5.3	1.0	3	dbSNP_134	98	0,8600		0,0,4300	no	missense,missense,missense	IGSF10	NM_001178145.1,NM_001178146.1,NM_178822.4	43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	556/651,508/603,2529/2624	151154763	1,13005	2203	4300	6503	152637453	SO:0001583	missense	285313	exon2			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.7586G>A	3.37:g.151154763C>T	ENSP00000282466:p.Arg2529Gln		152637453	NM_001178145	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673039	0.88445	2.27E-4	0.0	ENSG00000152580	ENST00000282466	T	0.78364	-1.17	5.3	5.3	0.74995	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40302	N	0.001131	T	0.80265	0.4591	N	0.20357	0.565	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.76022	-0.3111	10	0.18710	T	0.47	.	19.3285	0.94273	0.0:1.0:0.0:0.0	.	2529;556	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	Q	2529	ENSP00000282466:R2529Q	ENSP00000282466:R2529Q	R	-	2	0	IGSF10	152637453	0.986000	0.35501	1.000000	0.80357	0.728000	0.41692	3.690000	0.54713	2.636000	0.89361	0.655000	0.94253	CGA		0.478	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151155165	151155165	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:151155165G>T	ENST00000282466.3	-	6	7183	c.7184C>A	c.(7183-7185)tCt>tAt	p.S2395Y	IGSF10_ENST00000495443.1_5'UTR	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	2395	Ig-like C2-type 10.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S2395Y(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)			AATGATAAAAGAACCATTGCT	0.368																																					p.S422Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1265A	3						.						108.0	111.0	110.0					3																	151155165		2203	4300	6503	152637855	SO:0001583	missense	285313	exon2			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.7184C>A	3.37:g.151155165G>T	ENSP00000282466:p.Ser2395Tyr		152637855	NM_001178145	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073540	0.76415	.	.	ENSG00000152580	ENST00000282466	T	0.69435	-0.4	5.56	5.56	0.83823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000299	T	0.79627	0.4478	M	0.75447	2.3	0.53688	D	0.999976	D;D	0.89917	1.0;0.996	D;D	0.83275	0.996;0.942	T	0.73369	-0.4004	10	0.02654	T	1	.	19.8898	0.96926	0.0:0.0:1.0:0.0	.	2395;422	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	Y	2395	ENSP00000282466:S2395Y	ENSP00000282466:S2395Y	S	-	2	0	IGSF10	152637855	1.000000	0.71417	0.160000	0.22671	0.945000	0.59286	7.396000	0.79891	2.775000	0.95449	0.655000	0.94253	TCT		0.368	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151164233	151164233	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:151164233G>A	ENST00000282466.3	-	4	3535	c.3536C>T	c.(3535-3537)tCg>tTg	p.S1179L		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	1179					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S1179L(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)			TGAAAGTGACGATGTAATCAC	0.408																																					p.S1179L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3536T	3						.						256.0	239.0	245.0					3																	151164233		2203	4300	6503	152646923	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.3536C>T	3.37:g.151164233G>A	ENSP00000282466:p.Ser1179Leu		152646923	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	2.391	-0.339763	0.05243	.	.	ENSG00000152580	ENST00000282466	T	0.67865	-0.29	5.44	2.68	0.31781	.	0.603651	0.13674	N	0.370666	T	0.47691	0.1459	L	0.27053	0.805	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.26087	-1.0113	10	0.09590	T	0.72	.	8.9184	0.35596	0.2922:0.0:0.7078:0.0	.	1179	Q6WRI0	IGS10_HUMAN	L	1179	ENSP00000282466:S1179L	ENSP00000282466:S1179L	S	-	2	0	IGSF10	152646923	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.417000	0.21214	0.271000	0.22005	-0.186000	0.12905	TCG		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
ANKRD28	23243	broad.mit.edu	37	3	15726951	15726951	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:15726951G>A	ENST00000399451.2	-	21	2448	c.2081C>T	c.(2080-2082)gCa>gTa	p.A694V	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Splice_Site_p.A727V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	694						nucleus (GO:0005634)		p.A161V(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCCTGTAACTGCCTGAAAGAA	0.388																																					p.A694V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2081T	3						.						77.0	75.0	76.0					3																	15726951		1880	4115	5995	15701955	SO:0001630	splice_region_variant	23243	exon21			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2080-1C>T	3.37:g.15726951G>A			15701955	NM_015199	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647027	0.47258	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.69306	-0.39;-0.39;-0.39	5.99	5.99	0.97316	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	L	0.52905	1.665	0.80722	D	1	B;B;B	0.26635	0.064;0.064;0.155	B;B;B	0.21360	0.015;0.015;0.034	T	0.59899	-0.7367	10	0.41790	T	0.15	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	727;724;694	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	V	694;727;694	ENSP00000382379:A694V;ENSP00000373287:A727V;ENSP00000397341:A694V	ENSP00000373287:A727V	A	-	2	0	ANKRD28	15701955	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GCA		0.388	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Missense_Mutation
PLCH1	23007	broad.mit.edu	37	3	155282900	155282900	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:155282900C>T	ENST00000340059.7	-	7	836	c.837G>A	c.(835-837)acG>acA	p.T279T	PLCH1_ENST00000447496.2_Silent_p.T279T|PLCH1_ENST00000334686.6_Silent_p.T261T|PLCH1_ENST00000494598.1_Silent_p.T279T|PLCH1_ENST00000414191.1_Silent_p.T261T|PLCH1_ENST00000460012.1_Silent_p.T261T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	279					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.T261T(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)			GCATGAAGTTCGTGAAGCCTT	0.423																																					p.T279T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G837A	3						.						100.0	91.0	94.0					3																	155282900		2203	4300	6503	156765594	SO:0001819	synonymous_variant	23007	exon7			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.837G>A	3.37:g.155282900C>T			156765594	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																				0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
SLC33A1	9197	broad.mit.edu	37	3	155546024	155546024	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:155546024G>A	ENST00000392845.3	-	6	2005	c.1625C>T	c.(1624-1626)tCg>tTg	p.S542L	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S542L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	542					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.S542L(2)		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)			GCATTTCCACGAAGATGATCC	0.338																																					p.S542L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1625T	3						.						110.0	111.0	111.0					3																	155546024		2203	4300	6503	157028718	SO:0001583	missense	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.1625C>T	3.37:g.155546024G>A	ENSP00000376587:p.Ser542Leu		157028718	NM_004733	B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036764	0.75617	.	.	ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772	T;T;T	0.78126	-1.15;-1.15;-1.15	5.78	5.78	0.91487	.	0.118903	0.64402	D	0.000018	T	0.76271	0.3964	M	0.64170	1.965	0.80722	D	1	P	0.44044	0.825	B	0.36534	0.227	T	0.78904	-0.2020	10	0.52906	T	0.07	-10.4351	20.0585	0.97663	0.0:0.0:1.0:0.0	.	542	O00400	ACATN_HUMAN	L	542;542;178	ENSP00000376587:S542L;ENSP00000352456:S542L;ENSP00000419165:S178L	ENSP00000352456:S542L	S	-	2	0	SLC33A1	157028718	1.000000	0.71417	0.977000	0.42913	0.871000	0.50021	9.714000	0.98744	2.741000	0.93983	0.650000	0.86243	TCG		0.338	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733	
SLC33A1	9197	broad.mit.edu	37	3	155571418	155571418	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:155571418T>C	ENST00000392845.3	-	1	749	c.369A>G	c.(367-369)ttA>ttG	p.L123L	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Silent_p.L123L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	123					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.L123L(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)			GGGCCCAGAGTAATTTGAGAC	0.458																																					p.L123L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A369G	3						.						55.0	62.0	60.0					3																	155571418		2203	4300	6503	157054112	SO:0001819	synonymous_variant	9197	exon1			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.369A>G	3.37:g.155571418T>C			157054112	NM_004733	B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	CCDS3173.1																																																																																				0.458	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733	
GMPS	8833	broad.mit.edu	37	3	155628621	155628621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:155628621G>T	ENST00000496455.2	+	6	1002	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	GMPS_ENST00000295920.7_Nonsense_Mutation_p.E124*	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	223	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.E223*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GCAGAACAGAGAACTTGAGTG	0.368			T	MLL	AML																																p.E223X	Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G667T	3						.						107.0	104.0	105.0					3																	155628621		1872	4108	5980	157111315	SO:0001587	stop_gained	8833	exon6			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.667G>T	3.37:g.155628621G>T	ENSP00000419851:p.Glu223*		157111315	NM_003875	A8K639|B4DXV7|F8W720	Nonsense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	37	6.630157	0.97718	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	6.02	6.02	0.97574	.	0.111310	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-24.1126	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	223;124;172;223	.	ENSP00000295920:E124X	E	+	1	0	GMPS	157111315	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	3.755000	0.55197	2.857000	0.98124	0.650000	0.86243	GAA		0.368	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		
RARRES1	5918	broad.mit.edu	37	3	158415600	158415600	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:158415600C>T	ENST00000237696.5	-	6	1032	c.752G>A	c.(751-753)cGc>cAc	p.R251H	RP11-379F4.6_ENST00000606185.1_lincRNA	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	251					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R251H(1)		NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	CAAGTGAATGCGACAGGGAAT	0.373																																					p.R251H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752A	3						.						87.0	88.0	88.0					3																	158415600		2203	4300	6503	159898294	SO:0001583	missense	5918	exon6			U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"""latexin-like"""	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.752G>A	3.37:g.158415600C>T	ENSP00000237696:p.Arg251His		159898294	NM_206963	Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	37	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	C	6.639	0.486441	0.12641	.	.	ENSG00000118849	ENST00000237696	T	0.24723	1.84	5.73	-2.85	0.05734	.	0.653776	0.17141	N	0.185445	T	0.17577	0.0422	L	0.50333	1.59	0.09310	N	0.999999	B	0.20550	0.046	B	0.17979	0.02	T	0.27502	-1.0072	10	0.20519	T	0.43	-31.8035	7.8898	0.29672	0.1033:0.405:0.0:0.4917	.	251	P49788	TIG1_HUMAN	H	251	ENSP00000237696:R251H	ENSP00000237696:R251H	R	-	2	0	RARRES1	159898294	0.000000	0.05858	0.000000	0.03702	0.718000	0.41266	-1.052000	0.03503	-0.709000	0.05008	-0.813000	0.03139	CGC		0.373	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1		
SMC4	10051	broad.mit.edu	37	3	160120467	160120467	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:160120467T>G	ENST00000357388.3	+	4	773	c.322T>G	c.(322-324)Ttt>Gtt	p.F108V	RP11-432B6.3_ENST00000483754.1_Intron|MIR15B_ENST00000385045.1_RNA|SMC4_ENST00000462787.1_Missense_Mutation_p.F108V|SMC4_ENST00000469762.1_Missense_Mutation_p.F83V|SMC4_ENST00000344722.5_Missense_Mutation_p.F108V|SMC4_ENST00000360111.2_Missense_Mutation_p.F108V|MIR16-2_ENST00000362117.1_RNA	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	108					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.F108V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATGCAGCGCTTTTCCTGTAT	0.328																																					p.F108V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T322G	3						.						91.0	98.0	95.0					3																	160120467		2203	4300	6503	161603161	SO:0001583	missense	10051	exon4			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.322T>G	3.37:g.160120467T>G	ENSP00000349961:p.Phe108Val		161603161	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836341	0.91117	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T	0.69435	3.33;-0.4;3.33;3.33;-0.4;-0.4;3.33;-0.4;3.33;3.33;-0.4	5.16	5.16	0.70880	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.99	D	0.87358	0.2342	10	0.24483	T	0.36	-20.5057	14.9984	0.71451	0.0:0.0:0.0:1.0	.	108;83;108	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	V	108;108;108;108;108;108;83;108;108;108;36;108	ENSP00000418820:F108V;ENSP00000349961:F108V;ENSP00000419247:F108V;ENSP00000420644:F108V;ENSP00000353225:F108V;ENSP00000417964:F83V;ENSP00000420121:F108V;ENSP00000420734:F108V;ENSP00000420817:F108V;ENSP00000417612:F36V;ENSP00000341382:F108V	ENSP00000341382:F108V	F	+	1	0	SMC4	161603161	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.943000	0.87716	1.943000	0.56356	0.397000	0.26171	TTT		0.328	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
SMC4	10051	broad.mit.edu	37	3	160141270	160141270	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:160141270T>G	ENST00000357388.3	+	14	2528	c.2077T>G	c.(2077-2079)Tta>Gta	p.L693V	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.L693V|SMC4_ENST00000469762.1_Missense_Mutation_p.L668V|SMC4_ENST00000344722.5_Missense_Mutation_p.L693V|SMC4_ENST00000360111.2_Missense_Mutation_p.L693V	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	693	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.L693V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACTCCTCGTTTATTTGATTT	0.333																																					p.L693V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2077G	3						.						68.0	78.0	75.0					3																	160141270		2177	4292	6469	161623964	SO:0001583	missense	10051	exon14			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2077T>G	3.37:g.160141270T>G	ENSP00000349961:p.Leu693Val		161623964	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189500	0.78789	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.96	4.8	0.61643	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.993;0.992	D;D;D;P	0.85130	0.997;0.985;0.994;0.906	D	0.92243	0.5802	10	0.48119	T	0.1	-11.2952	8.2077	0.31465	0.0:0.1931:0.0:0.8069	.	693;668;668;693	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	V	693;693;668;693;693;287	ENSP00000349961:L693V;ENSP00000353225:L693V;ENSP00000417964:L668V;ENSP00000420734:L693V;ENSP00000341382:L693V	ENSP00000341382:L693V	L	+	1	2	SMC4	161623964	0.431000	0.25546	0.983000	0.44433	0.995000	0.86356	0.923000	0.28757	1.076000	0.40961	0.528000	0.53228	TTA		0.333	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
KPNA4	3840	broad.mit.edu	37	3	160254612	160254612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:160254612C>T	ENST00000334256.4	-	2	391	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	29	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.R29Q(2)		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)			AACTTCATTTCGTTGTCTTCT	0.279																																					p.R29Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G86A	3						.						130.0	134.0	132.0					3																	160254612		2197	4277	6474	161737306	SO:0001583	missense	3840	exon2			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.86G>A	3.37:g.160254612C>T	ENSP00000334373:p.Arg29Gln		161737306	NM_002268	A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286469	0.95517	.	.	ENSG00000186432	ENST00000334256	T	0.78003	-1.14	6.07	6.07	0.98685	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.93008	0.6429	10	0.72032	D	0.01	-3.57	20.2543	0.98414	0.0:1.0:0.0:0.0	.	29	O00629	IMA4_HUMAN	Q	29	ENSP00000334373:R29Q	ENSP00000334373:R29Q	R	-	2	0	KPNA4	161737306	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.323000	0.79105	2.890000	0.99128	0.650000	0.86243	CGA		0.279	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268	
PPM1L	151742	broad.mit.edu	37	3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:160786805C>T	ENST00000498165.1	+	4	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*|PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	315	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.R315*(2)|p.R136*(2)		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)			AGAAGCAGTTCGATTCATCAA	0.473																																					p.R315X	Pancreas(86;250 1994 13715 43211)											.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C943T	3						.						105.0	96.0	99.0					3																	160786805		2203	4300	6503	162269499	SO:0001587	stop_gained	151742	exon4			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.943C>T	3.37:g.160786805C>T	ENSP00000417659:p.Arg315*		162269499	NM_139245	Q2M3J2|Q96NM7	Nonsense_Mutation	SNP	ENST00000498165.1	37	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048756	0.75846	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	14.0648	0.64821	0.1511:0.8489:0.0:0.0	.	.	.	.	X	315;136;188	.	ENSP00000295839:R188X	R	+	1	2	PPM1L	162269499	0.998000	0.40836	0.998000	0.56505	0.853000	0.48598	3.777000	0.55364	2.388000	0.81334	0.650000	0.86243	CGA		0.473	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245	
RFTN1	23180	broad.mit.edu	37	3	16419324	16419324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:16419324C>A	ENST00000334133.4	-	5	999	c.727G>T	c.(727-729)Gag>Tag	p.E243*	RFTN1_ENST00000432519.1_Nonsense_Mutation_p.E207*	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	243					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.E243*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCATCTCCCTCTCCGGAGGGT	0.632																																					p.E243X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G727T	3						.						55.0	58.0	57.0					3																	16419324		2203	4300	6503	16394328	SO:0001587	stop_gained	23180	exon5			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.727G>T	3.37:g.16419324C>A	ENSP00000334153:p.Glu243*		16394328	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Nonsense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902831	0.72754	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	.	.	.	5.24	2.28	0.28536	.	1.914000	0.02269	N	0.068264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-11.8312	6.3853	0.21558	0.0:0.552:0.281:0.167	.	.	.	.	X	207;243;243	.	ENSP00000334153:E243X	E	-	1	0	RFTN1	16394328	0.000000	0.05858	0.001000	0.08648	0.450000	0.32258	0.123000	0.15708	0.563000	0.29222	0.561000	0.74099	GAG		0.632	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
NMD3	51068	broad.mit.edu	37	3	160952521	160952521	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:160952521A>C	ENST00000460469.1	+	5	819	c.364A>C	c.(364-366)Aat>Cat	p.N122H	NMD3_ENST00000351193.2_Missense_Mutation_p.N122H|NMD3_ENST00000472947.1_Missense_Mutation_p.N122H|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	122					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.N122H(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)			TCAGGTGATGAATGGTGCTAT	0.323																																					p.N122H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A364C	3						.						201.0	192.0	195.0					3																	160952521		2203	4300	6503	162435215	SO:0001583	missense	51068	exon6			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.364A>C	3.37:g.160952521A>C	ENSP00000419004:p.Asn122His		162435215	NM_015938	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.868054	0.72065	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T;T	0.47869	0.85;0.85;0.84;0.83;0.85;0.84;0.84	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.72118	2.19	0.80722	D	1	D;D	0.67145	0.99;0.996	D;D	0.68353	0.957;0.947	T	0.66480	-0.5913	10	0.42905	T	0.14	-25.2223	13.862	0.63566	1.0:0.0:0.0:0.0	.	122;122	C9JA08;Q96D46	.;NMD3_HUMAN	H	122;122;122;122;122;122;122;2	ENSP00000418980:N122H;ENSP00000419030:N122H;ENSP00000307525:N122H;ENSP00000417559:N122H;ENSP00000418908:N122H;ENSP00000419647:N122H;ENSP00000419004:N122H	ENSP00000307525:N122H	N	+	1	0	NMD3	162435215	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.632000	0.90995	1.923000	0.55706	0.482000	0.46254	AAT		0.323	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	164716339	164716339	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:164716339T>G	ENST00000264382.3	-	38	4591	c.4529A>C	c.(4528-4530)aAa>aCa	p.K1510T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1510	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.K1510T(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)	AATGATTGATTTGTCCATGTT	0.388										HNSCC(35;0.089)																											p.K1510T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4529C	3						.						194.0	174.0	181.0					3																	164716339		2203	4300	6503	166199033	SO:0001583	missense	6476	exon38			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.4529A>C	3.37:g.164716339T>G	ENSP00000264382:p.Lys1510Thr		166199033	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484261	0.44147	.	.	ENSG00000090402	ENST00000264382	D	0.92348	-3.02	4.76	4.76	0.60689	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	L	0.31526	0.94	0.58432	D	0.999994	D	0.76494	0.999	D	0.87578	0.998	D	0.90519	0.4487	10	0.22706	T	0.39	.	14.4058	0.67081	0.0:0.0:0.0:1.0	.	1510	P14410	SUIS_HUMAN	T	1510	ENSP00000264382:K1510T	ENSP00000264382:K1510T	K	-	2	0	SI	166199033	1.000000	0.71417	0.981000	0.43875	0.209000	0.24338	4.605000	0.61119	2.127000	0.65507	0.528000	0.53228	AAA		0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SI	6476	broad.mit.edu	37	3	164776869	164776869	+	Splice_Site	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:164776869T>C	ENST00000264382.3	-	12	1342	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	427	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.D427G(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)	AATTGCAGGGTCCTAATAATA	0.358										HNSCC(35;0.089)																											p.D427G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1280G	3						.						81.0	72.0	75.0					3																	164776869		2203	4299	6502	166259563	SO:0001630	splice_region_variant	6476	exon12			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.1279-1A>G	3.37:g.164776869T>C			166259563	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910641	0.72983	.	.	ENSG00000090402	ENST00000264382	D	0.92647	-3.08	5.57	5.57	0.84162	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	H	0.97758	4.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98818	1.0746	10	0.72032	D	0.01	.	14.9099	0.70749	0.0:0.0:0.0:1.0	.	427	P14410	SUIS_HUMAN	G	427	ENSP00000264382:D427G	ENSP00000264382:D427G	D	-	2	0	SI	166259563	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	7.052000	0.76634	2.110000	0.64415	0.528000	0.53228	GAC		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation
ZBBX	79740	broad.mit.edu	37	3	167023707	167023707	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:167023707G>A	ENST00000392766.2	-	17	1789	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ZBBX_ENST00000307529.5_Silent_p.I483I|ZBBX_ENST00000455345.2_Silent_p.I483I|ZBBX_ENST00000392767.2_Silent_p.I483I|ZBBX_ENST00000392764.1_Silent_p.I454I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	483						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.I483I(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						CAGGATCCACGATGTTGTCAA	0.284																																					p.I483I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1449T	3						.						44.0	40.0	41.0					3																	167023707		1811	4067	5878	168506401	SO:0001819	synonymous_variant	79740	exon17			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.1449C>T	3.37:g.167023707G>A			168506401	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																				0.284	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
ZBBX	79740	broad.mit.edu	37	3	167051749	167051749	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:167051749C>T	ENST00000392766.2	-	10	893	c.553G>A	c.(553-555)Gta>Ata	p.V185I	ZBBX_ENST00000307529.5_Missense_Mutation_p.V185I|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.V185I|ZBBX_ENST00000392767.2_Missense_Mutation_p.V185I|ZBBX_ENST00000392764.1_Missense_Mutation_p.V156I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	185						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V185I(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						ACATCCAATACATTGAATAAT	0.274																																					p.V185I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G553A	3						.						83.0	73.0	76.0					3																	167051749		1791	4064	5855	168534443	SO:0001583	missense	79740	exon10			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.553G>A	3.37:g.167051749C>T	ENSP00000376519:p.Val185Ile		168534443	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	6.803	0.517159	0.13005	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10005	3.09;3.09;3.09;3.09;2.92	4.36	1.49	0.22878	.	1.179050	0.06894	N	0.804762	T	0.08891	0.0220	L	0.43152	1.355	0.09310	N	1	B;B	0.31705	0.336;0.227	B;B	0.30782	0.12;0.056	T	0.39840	-0.9594	10	0.10377	T	0.69	-6.2475	6.1673	0.20398	0.0:0.6751:0.0:0.3249	.	185;185	A8MT70-2;A8MT70	.;ZBBX_HUMAN	I	185;185;185;185;156	ENSP00000376519:V185I;ENSP00000376520:V185I;ENSP00000390232:V185I;ENSP00000305065:V185I;ENSP00000376517:V156I	ENSP00000305065:V185I	V	-	1	0	ZBBX	168534443	0.961000	0.32948	0.021000	0.16686	0.008000	0.06430	0.768000	0.26590	0.509000	0.28195	0.650000	0.86243	GTA		0.274	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
LRRIQ4	344657	broad.mit.edu	37	3	169550871	169550871	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:169550871A>C	ENST00000340806.6	+	4	1430	c.1430A>C	c.(1429-1431)aAt>aCt	p.N477T		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	477								p.N477T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTGATGGACAATCCCATGGAA	0.433																																					p.N477T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1430C	3						.						77.0	72.0	74.0					3																	169550871		1849	4116	5965	171033565	SO:0001583	missense	344657	exon4				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1430A>C	3.37:g.169550871A>C	ENSP00000342188:p.Asn477Thr		171033565	NM_001080460		Missense_Mutation	SNP	ENST00000340806.6	37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629395	0.67015	.	.	ENSG00000188306	ENST00000340806	T	0.27256	1.68	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.56001	0.1956	M	0.84511	2.7	0.40443	D	0.980069	D	0.89917	1.0	D	0.91635	0.999	T	0.64833	-0.6314	10	0.72032	D	0.01	.	15.1055	0.72319	1.0:0.0:0.0:0.0	.	477	A6NIV6	LRIQ4_HUMAN	T	477	ENSP00000342188:N477T	ENSP00000342188:N477T	N	+	2	0	LRRIQ4	171033565	1.000000	0.71417	0.346000	0.25655	0.006000	0.05464	5.703000	0.68340	2.045000	0.60652	0.459000	0.35465	AAT		0.433	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460	
LRRC31	79782	broad.mit.edu	37	3	169557835	169557835	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:169557835C>T	ENST00000316428.5	-	9	1651	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	LRRC31_ENST00000264676.5_Missense_Mutation_p.E476K|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	532								p.E532K(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CATTCTAGTTCTTCCTCCTGT	0.403																																					p.E532K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1594A	3						.						133.0	118.0	123.0					3																	169557835		1881	4105	5986	171040529	SO:0001583	missense	79782	exon9			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1594G>A	3.37:g.169557835C>T	ENSP00000325978:p.Glu532Lys		171040529	NM_024727	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	C	9.215	1.031958	0.19590	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.06933	3.24;3.28	4.87	3.06	0.35304	.	0.603375	0.18033	N	0.153854	T	0.08891	0.0220	L	0.32530	0.975	0.09310	N	0.999997	P;B	0.52316	0.952;0.172	P;B	0.48815	0.591;0.015	T	0.16928	-1.0386	10	0.48119	T	0.1	-0.0684	5.6825	0.17784	0.0:0.4875:0.3207:0.1918	.	476;532	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	K	532;476	ENSP00000325978:E532K;ENSP00000264676:E476K	ENSP00000264676:E476K	E	-	1	0	LRRC31	171040529	0.001000	0.12720	0.066000	0.19879	0.006000	0.05464	0.767000	0.26575	1.048000	0.40298	0.650000	0.86243	GAA		0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
LRRC31	79782	broad.mit.edu	37	3	169587528	169587528	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:169587528T>G	ENST00000316428.5	-	1	125	c.68A>C	c.(67-69)aAa>aCa	p.K23T	LRRC31_ENST00000264676.5_Missense_Mutation_p.K23T|LRRC31_ENST00000523069.1_Missense_Mutation_p.K23T|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	23								p.K23T(2)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCTGAGAAATTTGTTGACAGT	0.453																																					p.K23T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A68C	3						.						136.0	127.0	129.0					3																	169587528		1825	4081	5906	171070222	SO:0001583	missense	79782	exon1			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.68A>C	3.37:g.169587528T>G	ENSP00000325978:p.Lys23Thr		171070222	NM_024727	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	T	6.312	0.425736	0.11987	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.11930	2.94;2.73;3.19	4.93	-1.7	0.08159	.	0.611505	0.15321	N	0.268533	T	0.08223	0.0205	L	0.27053	0.805	0.09310	N	1	P;P	0.44429	0.835;0.745	B;B	0.38156	0.266;0.193	T	0.24728	-1.0152	10	0.62326	D	0.03	.	9.0511	0.36376	0.0:0.4504:0.0:0.5496	.	23;23	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	T	23	ENSP00000325978:K23T;ENSP00000264676:K23T;ENSP00000429145:K23T	ENSP00000264676:K23T	K	-	2	0	LRRC31	171070222	0.017000	0.18338	0.000000	0.03702	0.009000	0.06853	-0.052000	0.11865	-0.154000	0.11118	-0.371000	0.07208	AAA		0.453	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
PRKCI	5584	broad.mit.edu	37	3	170013719	170013719	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:170013719C>T	ENST00000295797.4	+	15	1743	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R471C(3)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AAAACAAATTCGCATACCACG	0.274																																					p.R480C												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.C1438T	3						.						61.0	66.0	64.0					3																	170013719		2202	4298	6500	171496413	SO:0001583	missense	5584	exon15				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1438C>T	3.37:g.170013719C>T	ENSP00000295797:p.Arg480Cys		171496413	NM_002740	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726514	0.69074	.	.	ENSG00000163558	ENST00000295797	T	0.53423	0.62	5.29	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099543	0.64402	D	0.000002	T	0.63486	0.2515	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.63010	-0.6732	9	.	.	.	.	15.8416	0.78848	0.1359:0.8641:0.0:0.0	.	480	P41743	KPCI_HUMAN	C	480	ENSP00000295797:R480C	.	R	+	1	0	PRKCI	171496413	0.997000	0.39634	0.997000	0.53966	0.999000	0.98932	2.225000	0.42954	2.621000	0.88768	0.655000	0.94253	CGC		0.274	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	
SLC2A2	6514	broad.mit.edu	37	3	170732302	170732302	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:170732302C>A	ENST00000314251.3	-	3	406	c.327G>T	c.(325-327)atG>atT	p.M109I	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	109					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.M109I(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)	ATGATGCAGTCATTCCACCAA	0.448																																					p.M109I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G327T	3						.						175.0	160.0	165.0					3																	170732302		2203	4300	6503	172214996	SO:0001583	missense	6514	exon3			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.327G>T	3.37:g.170732302C>A	ENSP00000323568:p.Met109Ile		172214996	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321932	0.95682	.	.	ENSG00000163581	ENST00000314251	T	0.73575	-0.76	6.08	6.08	0.98989	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.033505	0.85682	D	0.000000	T	0.74336	0.3703	L	0.41906	1.305	0.80722	D	1	B	0.31790	0.34	B	0.39805	0.31	T	0.70142	-0.4953	10	0.42905	T	0.14	.	20.2738	0.98482	0.0:1.0:0.0:0.0	.	109	P11168	GTR2_HUMAN	I	109	ENSP00000323568:M109I	ENSP00000323568:M109I	M	-	3	0	SLC2A2	172214996	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.435000	0.59941	2.894000	0.99253	0.655000	0.94253	ATG		0.448	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340	
TNIK	23043	broad.mit.edu	37	3	170802112	170802112	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:170802112G>A	ENST00000436636.2	-	26	3345	c.3001C>T	c.(3001-3003)Ctg>Ttg	p.L1001L	TNIK_ENST00000470834.1_Silent_p.L964L|TNIK_ENST00000488470.1_Silent_p.L946L|TNIK_ENST00000538048.1_Silent_p.L953L|TNIK_ENST00000460047.1_Silent_p.L938L|TNIK_ENST00000284483.8_Silent_p.L993L|TNIK_ENST00000357327.5_Silent_p.L972L|TNIK_ENST00000475336.1_Silent_p.L909L|TNIK_ENST00000369326.5_Silent_p.L979L|TNIK_ENST00000341852.6_Silent_p.L917L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1001	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L1001L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTAGTAAACAGAGCTTTGAGA	0.388																																					p.L917L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2749T	3						.						122.0	118.0	119.0					3																	170802112		1841	4092	5933	172284806	SO:0001819	synonymous_variant	23043	exon24			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3001C>T	3.37:g.170802112G>A			172284806	NM_001161565	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																				0.388	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
PLD1	5337	broad.mit.edu	37	3	171330213	171330213	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:171330213T>C	ENST00000351298.4	-	25	2864	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.N875S|PLD1_ENST00000340989.4_Missense_Mutation_p.N913S	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	913	Catalytic.|PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				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.N913S(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)	GTCATTTATGTTGGCAGAGCC	0.468																																					p.N875S	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2624G	3						.						100.0	88.0	92.0					3																	171330213		2203	4300	6503	172812907	SO:0001583	missense	5337	exon24			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.2738A>G	3.37:g.171330213T>C	ENSP00000342793:p.Asn913Ser		172812907	NM_001130081		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.800223|4.800223	0.90538|0.90538	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000446289	D;D;D|.	0.83914|.	-1.78;-1.78;-1.78|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Phospholipase D/Transphosphatidylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89269|0.89269	0.6667|0.6667	H|H	0.98701|0.98701	4.305|4.305	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.93585|0.93585	0.6916|0.6916	10|5	0.87932|.	D|.	0|.	-32.0825|-32.0825	15.4626|15.4626	0.75369|0.75369	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	913;898;913|.	Q13393-4;Q59EA4;Q13393|.	.;.;PLD1_HUMAN|.	S|A	875;913;913|176	ENSP00000348681:N875S;ENSP00000342793:N913S;ENSP00000340326:N913S|.	ENSP00000340326:N913S|.	N|T	-|-	2|1	0|0	PLD1|PLD1	172812907|172812907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.013000|8.013000	0.88655|0.88655	2.047000|2.047000	0.60756|0.60756	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.468	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
PLD1	5337	broad.mit.edu	37	3	171410196	171410196	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:171410196C>T	ENST00000351298.4	-	13	1390	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	PLD1_ENST00000342215.6_Missense_Mutation_p.E422K|PLD1_ENST00000356327.5_Missense_Mutation_p.E422K|PLD1_ENST00000340989.4_Missense_Mutation_p.E422K|snoU13_ENST00000458788.1_RNA	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	422					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.E422K(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)	AGTTCCACCTCTTTGTAGAGC	0.418																																					p.E422K	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1264A	3						.						153.0	141.0	145.0					3																	171410196		2203	4300	6503	172892890	SO:0001583	missense	5337	exon13			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.1264G>A	3.37:g.171410196C>T	ENSP00000342793:p.Glu422Lys		172892890	NM_001130081		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	36	5.853458	0.97030	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.93808	3.46	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.67725	0.953;0.899	D	0.88094	0.2815	10	0.87932	D	0	-28.8133	19.9052	0.97004	0.0:1.0:0.0:0.0	.	445;422	Q59EA4;Q13393	.;PLD1_HUMAN	K	422	ENSP00000348681:E422K;ENSP00000342793:E422K;ENSP00000339936:E422K;ENSP00000340326:E422K	ENSP00000340326:E422K	E	-	1	0	PLD1	172892890	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.752000	0.85141	2.776000	0.95493	0.655000	0.94253	GAG		0.418	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
NCEH1	57552	broad.mit.edu	37	3	172351822	172351822	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:172351822G>T	ENST00000475381.1	-	5	903	c.670C>A	c.(670-672)Ctt>Att	p.L224I	NCEH1_ENST00000538775.1_Missense_Mutation_p.L264I|NCEH1_ENST00000273512.3_Missense_Mutation_p.L256I|NCEH1_ENST00000543711.1_Missense_Mutation_p.L91I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	224					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)	p.L256I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAAGCTTGAAGAACTGGATAA	0.373																																					p.L264I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790A	3						.						84.0	83.0	83.0					3																	172351822		2203	4300	6503	173834516	SO:0001583	missense	57552	exon5			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.670C>A	3.37:g.172351822G>T	ENSP00000418571:p.Leu224Ile		173834516	NM_001146276	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.88|17.88	3.498367|3.498367	0.64186|0.64186	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	.|T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Alpha/beta hydrolase fold-3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74152|0.74152	0.3679|0.3679	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.75288|0.75288	-0.3370|-0.3370	5|10	.|0.87932	.|D	.|0	-24.4841|-24.4841	19.7643|19.7643	0.96334|0.96334	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|264;224	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	L|I	254|224;264;256;91	.|ENSP00000418571:L224I;ENSP00000442464:L264I;ENSP00000273512:L256I;ENSP00000443227:L91I	.|ENSP00000273512:L256I	F|L	-|-	3|1	2|0	NCEH1|NCEH1	173834516|173834516	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.017000|0.017000	0.09413|0.09413	9.471000|9.471000	0.97696|0.97696	2.671000|2.671000	0.90904|0.90904	0.591000|0.591000	0.81541|0.81541	TTC|CTT		0.373	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792	
TBL1XR1	79718	broad.mit.edu	37	3	176769432	176769432	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:176769432T>G	ENST00000430069.1	-	5	546	c.287A>C	c.(286-288)cAa>cCa	p.Q96P	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q96P			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	96					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.Q96P(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)			ATAAGCTTGTTGTCTTGTTTG	0.468																																					p.Q96P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A287C	3						.						72.0	64.0	66.0					3																	176769432		1883	4106	5989	178252126	SO:0001583	missense	79718	exon5			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.287A>C	3.37:g.176769432T>G	ENSP00000405574:p.Gln96Pro		178252126	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098744	0.76870	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758;ENST00000428970;ENST00000424913;ENST00000352800;ENST00000437738;ENST00000431421;ENST00000450267;ENST00000431674	T;T	0.54071	0.59;0.59	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	M	0.63428	1.95	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.45673	-0.9245	10	0.27785	T	0.31	-25.2291	14.8317	0.70153	0.0:0.0:0.0:1.0	.	96	Q9BZK7	TBL1R_HUMAN	P	96;96;9;9;9;96;96;9;96;96	ENSP00000405574:Q96P;ENSP00000413251:Q96P	ENSP00000263964:Q96P	Q	-	2	0	TBL1XR1	178252126	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	7.698000	0.84413	2.109000	0.64355	0.455000	0.32223	CAA		0.468	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	
ZMAT3	64393	broad.mit.edu	37	3	178742983	178742983	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:178742983C>A	ENST00000311417.2	-	6	1433	c.692G>T	c.(691-693)aGa>aTa	p.R231I	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R230I	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.R231I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ACGTGGAATTCTCTGCCGAGA	0.418																																					p.R230I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689T	3						.						69.0	62.0	64.0					3																	178742983		2203	4300	6503	180225677	SO:0001583	missense	64393	exon7			AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.692G>T	3.37:g.178742983C>A	ENSP00000311221:p.Arg231Ile		180225677	NM_152240		Missense_Mutation	SNP	ENST00000311417.2	37	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125165	0.94429	.	.	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.54479	0.66;0.57	5.6	5.6	0.85130	.	0.048656	0.85682	D	0.000000	T	0.57695	0.2071	L	0.29908	0.895	0.80722	D	1	D;P	0.55385	0.971;0.952	P;P	0.55577	0.779;0.606	T	0.54622	-0.8266	10	0.38643	T	0.18	-13.1297	19.6182	0.95643	0.0:1.0:0.0:0.0	.	230;231	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	I	231;230	ENSP00000311221:R231I;ENSP00000396506:R230I	ENSP00000311221:R231I	R	-	2	0	ZMAT3	180225677	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.626000	0.88956	0.650000	0.86243	AGA		0.418	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240	
PEX5L	51555	broad.mit.edu	37	3	179616000	179616000	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:179616000G>A	ENST00000467460.1	-	3	458	c.128C>T	c.(127-129)gCc>gTc	p.A43V	PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.A41V|PEX5L_ENST00000472994.1_Intron|PEX5L-AS2_ENST00000462801.1_RNA|PEX5L_ENST00000465751.1_Missense_Mutation_p.A19V|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000392649.3_5'Flank|PEX5L_ENST00000468741.1_Intron	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	43					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.A43V(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)			CATCACCATGGCAACAGCCTT	0.448																																					p.A43V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128T	3						.						111.0	106.0	107.0					3																	179616000		2203	4300	6503	181098694	SO:0001583	missense	51555	exon3			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.128C>T	3.37:g.179616000G>A	ENSP00000419975:p.Ala43Val		181098694	NM_016559	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529654	0.85706	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000382596;ENST00000465751;ENST00000463761	D;D;D	0.91740	-2.89;-2.9;-2.84	5.58	5.58	0.84498	.	0.057211	0.64402	D	0.000001	D	0.93638	0.7968	L	0.27053	0.805	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.77557	0.978;0.99;0.978	D	0.94346	0.7575	10	0.87932	D	0	-7.8562	19.9261	0.97102	0.0:0.0:1.0:0.0	.	19;41;43	E9PH97;Q8IYB4-2;Q8IYB4	.;.;PEX5R_HUMAN	V	43;41;41;19;67	ENSP00000419975:A43V;ENSP00000263962:A41V;ENSP00000419348:A19V	ENSP00000263962:A41V	A	-	2	0	PEX5L	181098694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.362000	0.97126	2.789000	0.95967	0.655000	0.94253	GCC		0.448	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	
CCDC39	339829	broad.mit.edu	37	3	180359833	180359833	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:180359833T>C	ENST00000442201.2	-	13	1941	c.1822A>G	c.(1822-1824)Aca>Gca	p.T608A	CCDC39_ENST00000273654.4_Missense_Mutation_p.T692A	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	608					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.T692A(1)|p.T608A(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)			GCAAGCATTGTTTTATGAACC	0.343																																					p.T608A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1822G	3						.						174.0	160.0	165.0					3																	180359833		1833	4090	5923	181842527	SO:0001583	missense	339829	exon13			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.1822A>G	3.37:g.180359833T>C	ENSP00000405708:p.Thr608Ala		181842527	NM_181426	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	1.888	-0.456126	0.04540	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	4.9	-0.759	0.11045	.	0.478129	0.24010	N	0.042389	T	0.18635	0.0447	N	0.11201	0.11	0.19575	N	0.999966	B	0.06786	0.001	B	0.06405	0.002	T	0.24621	-1.0155	9	0.15066	T	0.55	-1.0594	9.4577	0.38764	0.0:0.6732:0.0:0.3268	.	608	Q9UFE4	CCD39_HUMAN	A	692;608	.	ENSP00000273654:T692A	T	-	1	0	CCDC39	181842527	1.000000	0.71417	0.987000	0.45799	0.176000	0.22953	0.733000	0.26087	0.013000	0.14918	-0.370000	0.07254	ACA		0.343	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
DNAJC19	131118	broad.mit.edu	37	3	180702478	180702478	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:180702478C>T	ENST00000382564.2	-	6	471	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.A76T|DNAJC19_ENST00000491873.1_Missense_Mutation_p.A76T	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	101	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.A101T(1)		large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TTGATTTTGGCTGCTATATAA	0.303																																					p.A101T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	3						.						51.0	49.0	50.0					3																	180702478		2198	4290	6488	182185172	SO:0001583	missense	131118	exon6				CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.301G>A	3.37:g.180702478C>T	ENSP00000372005:p.Ala101Thr		182185172	NM_145261	B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046913	0.55110	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	T;T;T	0.30981	1.51;1.51;1.51	5.97	5.97	0.96955	Heat shock protein DnaJ, N-terminal (5);	0.195142	0.53938	D	0.000048	T	0.19287	0.0463	N	0.10685	0.025	0.80722	D	1	B	0.26120	0.142	B	0.26693	0.072	T	0.10706	-1.0618	10	0.19147	T	0.46	-1.931	18.6193	0.91316	0.0:1.0:0.0:0.0	.	101	Q96DA6	TIM14_HUMAN	T	101;76;76	ENSP00000372005:A101T;ENSP00000420767:A76T;ENSP00000419191:A76T	ENSP00000372005:A101T	A	-	1	0	DNAJC19	182185172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.927000	0.70080	2.836000	0.97738	0.655000	0.94253	GCC		0.303	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261	
SOX2	6657	broad.mit.edu	37	3	181430808	181430808	+	Silent	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:181430808G>C	ENST00000325404.1	+	1	1087	c.660G>C	c.(658-660)tcG>tcC	p.S220S	SOX2_ENST00000431565.2_Silent_p.S220S	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	220					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.S220S(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)			TGAACGGCTCGCCCACCTACA	0.647			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																														p.S220S			Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G660C	3						.						68.0	58.0	62.0					3																	181430808		2203	4300	6503	182913502	SO:0001819	synonymous_variant	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.660G>C	3.37:g.181430808G>C			182913502	NM_003106	Q14537	Silent	SNP	ENST00000325404.1	37	CCDS3239.1																																																																																				0.647	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106	
ATP11B	23200	broad.mit.edu	37	3	182577031	182577031	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:182577031G>A	ENST00000323116.5	+	12	1344	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	362					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E362K(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTGACAGTCGAAATGCAGAA	0.323																																					p.E362K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084A	3						.						56.0	54.0	55.0					3																	182577031		2203	4300	6503	184059725	SO:0001583	missense	23200	exon12			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1084G>A	3.37:g.182577031G>A	ENSP00000321195:p.Glu362Lys		184059725	NM_014616	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613396	0.96637	.	.	ENSG00000058063	ENST00000323116	T	0.73681	-0.77	5.76	5.76	0.90799	ATPase, P-type, ATPase-associated domain (1);	0.096867	0.64402	D	0.000001	D	0.91233	0.7237	H	0.96460	3.825	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.93212	0.6601	10	0.72032	D	0.01	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	362	Q9Y2G3	AT11B_HUMAN	K	362	ENSP00000321195:E362K	ENSP00000321195:E362K	E	+	1	0	ATP11B	184059725	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GAA		0.323	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	
ATP11B	23200	broad.mit.edu	37	3	182591746	182591746	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:182591746T>G	ENST00000323116.5	+	19	2455	c.2195T>G	c.(2194-2196)cTt>cGt	p.L732R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	732					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L732R(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCCTTGAACTTATAAACCAG	0.408																																					p.L732R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2195G	3						.						86.0	76.0	80.0					3																	182591746		2203	4300	6503	184074440	SO:0001583	missense	23200	exon19			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2195T>G	3.37:g.182591746T>G	ENSP00000321195:p.Leu732Arg		184074440	NM_014616	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.122363|4.122363	0.77436|0.77436	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	T|T	0.64803|0.52754	-0.12|0.65	5.78|5.78	4.6|4.6	0.57074|0.57074	HAD-like domain (2);|.	0.058092|0.058092	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.70159|0.70159	0.3192|0.3192	M|M	0.91872|0.91872	3.25|3.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.73984|0.73984	-0.3810|-0.3810	10|8	0.87932|0.41790	D|T	0|0.15	.|.	13.0404|13.0404	0.58895|0.58895	0.0:0.0:0.1346:0.8654|0.0:0.0:0.1346:0.8654	.|.	306;732|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	R|V	732|533	ENSP00000321195:L732R|ENSP00000418421:L533V	ENSP00000321195:L732R|ENSP00000418421:L533V	L|L	+|+	2|1	0|2	ATP11B|ATP11B	184074440|184074440	1.000000|1.000000	0.71417|0.71417	0.534000|0.534000	0.28014|0.28014	0.989000|0.989000	0.77384|0.77384	7.649000|7.649000	0.83500|0.83500	0.991000|0.991000	0.38814|0.38814	0.533000|0.533000	0.62120|0.62120	CTT|TTA		0.408	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	
MCF2L2	23101	broad.mit.edu	37	3	182923938	182923938	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:182923938C>T	ENST00000328913.3	-	24	3074	c.2777G>A	c.(2776-2778)cGa>cAa	p.R926Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R926Q|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	926	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R926Q(2)		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)			AAGTCCATTTCGACTGGCAAT	0.438																																					p.R926Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2777A	3						.						202.0	172.0	182.0					3																	182923938		2203	4300	6503	184406632	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.2777G>A	3.37:g.182923938C>T	ENSP00000328118:p.Arg926Gln		184406632	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	3.836	-0.034732	0.07543	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.43294	0.95;0.95	4.27	-7.16	0.01516	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	1.071290	0.07398	N	0.890319	T	0.18635	0.0447	N	0.05280	-0.08	0.09310	N	0.999999	B	0.14438	0.01	B	0.04013	0.001	T	0.34304	-0.9834	10	0.18276	T	0.48	.	12.7209	0.57142	0.0:0.1476:0.0:0.8524	.	926	Q86YR7	MF2L2_HUMAN	Q	926	ENSP00000328118:R926Q;ENSP00000420070:R926Q	ENSP00000328118:R926Q	R	-	2	0	MCF2L2	184406632	0.034000	0.19679	0.023000	0.16930	0.128000	0.20619	-1.509000	0.02264	-1.428000	0.01989	-1.375000	0.01183	CGA		0.438	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-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:183056614G>A	ENST00000328913.3	-	5	757	c.460C>T	c.(460-462)Cga>Tga	p.R154*	MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.R154*|MCF2L2_ENST00000447025.2_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	
KLHL6	89857	broad.mit.edu	37	3	183211899	183211899	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:183211899T>C	ENST00000341319.3	-	5	1353	c.1318A>G	c.(1318-1320)Acc>Gcc	p.T440A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	440					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.T440A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGTCGTAGGTCTCCACATTG	0.453																																					p.T440A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1318G	3						.						252.0	237.0	242.0					3																	183211899		2203	4300	6503	184694593	SO:0001583	missense	89857	exon5			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1318A>G	3.37:g.183211899T>C	ENSP00000341342:p.Thr440Ala		184694593	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	T	10.93	1.488745	0.26686	.	.	ENSG00000172578	ENST00000341319	T	0.76060	-0.99	5.96	4.81	0.61882	Kelch-type beta propeller (1);	0.139729	0.64402	N	0.000004	T	0.44350	0.1289	N	0.02213	-0.635	0.29606	N	0.847329	B	0.02656	0.0	B	0.09377	0.004	T	0.35176	-0.9799	10	0.10902	T	0.67	.	7.9084	0.29776	0.0:0.2297:0.0:0.7703	.	440	Q8WZ60	KLHL6_HUMAN	A	440	ENSP00000341342:T440A	ENSP00000341342:T440A	T	-	1	0	KLHL6	184694593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.551000	0.45820	1.076000	0.40961	0.533000	0.62120	ACC		0.453	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446	
ABCC5	10057	broad.mit.edu	37	3	183670976	183670976	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:183670976G>A	ENST00000334444.6	-	18	2805	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	ABCC5_ENST00000265586.6_Silent_p.G855G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	855					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|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.G855G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATGCCAAGGGGCCCCCAGCAG	0.527																																					p.G855G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2565T	3						.						84.0	84.0	84.0					3																	183670976		1905	4118	6023	185153670	SO:0001819	synonymous_variant	10057	exon18			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2565C>T	3.37:g.183670976G>A			185153670	NM_005688	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	6.655	0.489345	0.12641	.	.	ENSG00000114770	ENST00000382495	.	.	.	5.62	0.481	0.16809	.	.	.	.	.	T	0.56543	0.1992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52320	-0.8591	5	0.51188	T	0.08	-18.9762	5.0628	0.14566	0.3614:0.0:0.509:0.1295	.	.	.	.	S	790	.	ENSP00000371935:P790S	P	-	1	0	ABCC5	185153670	0.983000	0.35010	0.998000	0.56505	0.661000	0.39034	0.153000	0.16323	0.007000	0.14760	-0.355000	0.07637	CCC		0.527	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
HTR3E	285242	broad.mit.edu	37	3	183823206	183823206	+	Silent	SNP	C	C	T	rs141773119		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:183823206C>T	ENST00000415389.2	+	6	1177	c.711C>T	c.(709-711)atC>atT	p.I237I	HTR3E_ENST00000425359.2_Silent_p.I222I|HTR3E_ENST00000335304.2_Silent_p.I252I|HTR3E_ENST00000440596.2_Silent_p.I263I|HTR3E_ENST00000436361.2_Silent_p.I237I|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	237					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.I252I(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)	ATGATCAGATCGTGTTCTATG	0.517																																					p.I252I	Melanoma(7;227 727 6634 44770)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	3						.	C		0,4406		0,0,2203	135.0	116.0	123.0		756	-0.2	0.0	3	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HTR3E	NM_182589.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		252/472	183823206	1,13005	2203	4300	6503	185305900	SO:0001819	synonymous_variant	285242	exon5			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.711C>T	3.37:g.183823206C>T			185305900	NM_182589	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	ENST00000415389.2	37	CCDS58868.1																																																																																				0.517	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
ECE2	9718	broad.mit.edu	37	3	184009212	184009212	+	Silent	SNP	C	C	T	rs375893153		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:184009212C>T	ENST00000402825.3	+	18	2460	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	ECE2_ENST00000404464.3_Silent_p.F702F|ECE2_ENST00000357474.5_Silent_p.F748F|ECE2_ENST00000359140.4_Silent_p.F673F|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	820	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.F673F(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)			AGCTCTTCTTCGTGGGATTTG	0.592																																					p.F820F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2460T	3						.	C	,,,	0,4406		0,0,2203	89.0	88.0	88.0		2019,2244,2106,2460	0.3	1.0	3		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	673/737,748/812,702/766,820/884	184009212	1,13005	2203	4300	6503	185491906	SO:0001819	synonymous_variant	9718	exon18			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.2460C>T	3.37:g.184009212C>T			185491906	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	CCDS3256.2																																																																																				0.592	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
EIF4G1	1981	broad.mit.edu	37	3	184039307	184039307	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:184039307G>A	ENST00000346169.2	+	10	1206	c.935G>A	c.(934-936)cGc>cAc	p.R312H	EIF4G1_ENST00000352767.3_Missense_Mutation_p.R319H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R272H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R116H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R148H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R116H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R319H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R312H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R312H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R272H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R319H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R225H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R225H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R148H	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	312					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.R312H(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)			GAGCCATATCGCCTCTCTCCA	0.493																																					p.R312H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935A	3						.						62.0	61.0	62.0					3																	184039307		2203	4300	6503	185522001	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.935G>A	3.37:g.184039307G>A	ENSP00000316879:p.Arg312His		185522001	NM_182917	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437877	0.62955	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	4.03;4.04;3.95;0.92;2.94;2.94;4.04;3.11;3.85;4.04;3.95;4.04;4.03;4.04;4.03;2.55;3.86;0.92;3.86;0.94;1.5;3.88	5.5	5.5	0.81552	.	0.645701	0.16289	N	0.220961	T	0.23846	0.0577	N	0.08118	0	0.26949	N	0.966074	P;P;P;B	0.44006	0.564;0.564;0.824;0.431	B;B;B;B	0.35182	0.083;0.083;0.197;0.045	T	0.12016	-1.0564	10	0.36615	T	0.2	-4.4625	16.2625	0.82553	0.0:0.0:1.0:0.0	.	319;312;312;319	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	H	312;272;225;116;312;319;319;253;148;319;225;312;312;319;272;148;148;116;116;116;116;116	ENSP00000316879:R312H;ENSP00000391935:R272H;ENSP00000376320:R225H;ENSP00000407244:R116H;ENSP00000391412:R312H;ENSP00000413159:R319H;ENSP00000371767:R319H;ENSP00000403269:R253H;ENSP00000317600:R148H;ENSP00000338020:R319H;ENSP00000407682:R225H;ENSP00000343450:R312H;ENSP00000323737:R312H;ENSP00000416255:R319H;ENSP00000395974:R272H;ENSP00000398145:R148H;ENSP00000399858:R148H;ENSP00000411707:R116H;ENSP00000411826:R116H;ENSP00000409545:R116H;ENSP00000399969:R116H;ENSP00000404754:R116H	ENSP00000323737:R312H	R	+	2	0	EIF4G1	185522001	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.770000	0.62309	2.861000	0.98227	0.655000	0.94253	CGC		0.493	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
MAP3K13	9175	broad.mit.edu	37	3	185146660	185146660	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:185146660G>A	ENST00000265026.3	+	2	625	c.291G>A	c.(289-291)gtG>gtA	p.V97V	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.V97V|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.V97V(1)		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)			AGACGGCGGTGTCTCAGGGGA	0.527																																					p.V97V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G291A	3						.						111.0	90.0	97.0					3																	185146660		2203	4300	6503	186629354	SO:0001819	synonymous_variant	9175	exon2			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.291G>A	3.37:g.185146660G>A			186629354	NM_004721		Silent	SNP	ENST00000265026.3	37	CCDS3270.1																																																																																				0.527	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
DGKG	1608	broad.mit.edu	37	3	185906028	185906028	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:185906028A>G	ENST00000265022.3	-	22	2597	c.2058T>C	c.(2056-2058)ggT>ggC	p.G686G	DGKG_ENST00000544847.1_Silent_p.G627G|DGKG_ENST00000382164.4_Silent_p.G647G|DGKG_ENST00000344484.4_Silent_p.G661G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	686					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G686G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GGTCAGTGACACCCTTCCTGC	0.498																																					p.G661G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1983C	3						.						157.0	142.0	147.0					3																	185906028		2203	4300	6503	187388722	SO:0001819	synonymous_variant	1608	exon21			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2058T>C	3.37:g.185906028A>G			187388722	NM_001080744	B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	CCDS3274.1																																																																																				0.498	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
DGKG	1608	broad.mit.edu	37	3	185986648	185986648	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:185986648T>A	ENST00000265022.3	-	12	1597	c.1058A>T	c.(1057-1059)aAa>aTa	p.K353I	DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.K353I	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	353					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.K353I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTTGATACTTTTGTGGCACCG	0.602																																					p.K353I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1058T	3						.						88.0	66.0	73.0					3																	185986648		2203	4300	6503	187469342	SO:0001583	missense	1608	exon12			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1058A>T	3.37:g.185986648T>A	ENSP00000265022:p.Lys353Ile		187469342	NM_001080744	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122573	0.77436	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.85955	-2.05;-2.05;-2.05	5.16	3.99	0.46301	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.059148	0.64402	D	0.000003	D	0.91858	0.7423	M	0.85462	2.755	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.982	D	0.91825	0.5470	10	0.87932	D	0	.	10.3684	0.44038	0.0:0.0794:0.0:0.9206	.	353;353	P49619-2;P49619	.;DGKG_HUMAN	I	353;353;104	ENSP00000265022:K353I;ENSP00000339777:K353I;ENSP00000395526:K104I	ENSP00000265022:K353I	K	-	2	0	DGKG	187469342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.044000	0.49830	0.917000	0.36895	0.460000	0.39030	AAA		0.602	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
HRG	3273	broad.mit.edu	37	3	186395525	186395525	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:186395525T>G	ENST00000232003.4	+	7	1511	c.1431T>G	c.(1429-1431)ttT>ttG	p.F477L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	477	His/Pro-rich (HRR).				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.F477L(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)		AGGCCAATTTTCCCAGCTTCC	0.502																																					p.F477L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1431G	3						.						119.0	115.0	116.0					3																	186395525		2203	4300	6503	187878219	SO:0001583	missense	3273	exon7				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.1431T>G	3.37:g.186395525T>G	ENSP00000232003:p.Phe477Leu		187878219	NM_000412	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.868042	0.51588	.	.	ENSG00000113905	ENST00000232003	T	0.20881	2.04	5.23	-7.54	0.01332	.	0.123005	0.37178	N	0.002216	T	0.22360	0.0539	M	0.75447	2.3	0.26643	N	0.972256	P	0.44578	0.838	P	0.45538	0.484	T	0.34304	-0.9834	10	0.11182	T	0.66	-16.3993	15.9978	0.80265	0.0:0.6882:0.0:0.3118	.	477	P04196	HRG_HUMAN	L	477	ENSP00000232003:F477L	ENSP00000232003:F477L	F	+	3	2	HRG	187878219	0.876000	0.30132	0.629000	0.29254	0.286000	0.27126	-0.677000	0.05215	-1.748000	0.01332	0.454000	0.30748	TTT		0.502	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
KNG1	3827	broad.mit.edu	37	3	186459488	186459488	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:186459488A>C	ENST00000265023.4	+	10	1515	c.1303A>C	c.(1303-1305)Aaa>Caa	p.K435Q	RP11-573D15.8_ENST00000596632.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000609726.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	435	His-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.K435Q(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GGGCCATGAAAAACAAAGAAA	0.493																																					p.K435Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1303C	3						.						94.0	95.0	95.0					3																	186459488		2163	4277	6440	187942182	SO:0001583	missense	3827	exon10				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1303A>C	3.37:g.186459488A>C	ENSP00000265023:p.Lys435Gln		187942182	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851112	0.32699	.	.	ENSG00000113889	ENST00000265023	T	0.65178	-0.14	5.32	2.8	0.32819	.	0.117180	0.39083	N	0.001465	T	0.58609	0.2134	M	0.64997	1.995	0.19775	N	0.99995	D	0.55605	0.972	P	0.48304	0.573	T	0.53486	-0.8432	9	.	.	.	-9.1383	4.3178	0.11002	0.6891:0.2018:0.1092:0.0	.	435	P01042	KNG1_HUMAN	Q	435	ENSP00000265023:K435Q	.	K	+	1	0	KNG1	187942182	0.318000	0.24598	0.818000	0.32626	0.320000	0.28249	0.041000	0.13927	1.143000	0.42306	0.533000	0.62120	AAA		0.493	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416	
BCL6	604	broad.mit.edu	37	3	187443345	187443345	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:187443345C>T	ENST00000406870.2	-	8	2147	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R594Q|BCL6_ENST00000450123.2_Missense_Mutation_p.R538Q	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	594					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R594Q(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGAGTGAATTCGAGTGTGGGT	0.542			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																p.R594Q			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1781A	3						.						122.0	129.0	126.0					3																	187443345		2203	4300	6503	188926039	SO:0001583	missense	604	exon8				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1781G>A	3.37:g.187443345C>T	ENSP00000384371:p.Arg594Gln		188926039	NM_001130845	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088252	0.94100	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.24723	1.84;1.84;1.84	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.50993	1.605	0.58432	D	0.999999	D;P	0.89917	1.0;0.941	D;B	0.85130	0.997;0.267	T	0.41520	-0.9504	10	0.72032	D	0.01	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	538;594	B8PSA7;P41182	.;BCL6_HUMAN	Q	594;594;538	ENSP00000384371:R594Q;ENSP00000232014:R594Q;ENSP00000413122:R538Q	ENSP00000232014:R594Q	R	-	2	0	BCL6	188926039	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	CGA		0.542	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
LEPREL1	55214	broad.mit.edu	37	3	189675701	189675701	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:189675701T>G	ENST00000319332.5	-	15	2324	c.2127A>C	c.(2125-2127)taA>taC	p.*709Y	LEPREL1_ENST00000427335.2_Nonstop_Mutation_p.*528Y	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	0					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.*709Y(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)	TTTCTCATTTTTATAGCTCAT	0.318																																					p.X528Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A1584C	3						.						159.0	148.0	152.0					3																	189675701		2203	4300	6503	191158395	SO:0001578	stop_lost	55214	exon15				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.2127A>C	3.37:g.189675701T>G			191158395	NM_001134418	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Nonstop_Mutation	SNP	ENST00000319332.5	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121453	0.37436	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.62	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7291	0.34487	0.0:0.155:0.0:0.845	.	.	.	.	Y	709;528	.	.	X	-	3	2	LEPREL1	191158395	0.850000	0.29656	0.361000	0.25849	0.945000	0.59286	2.391000	0.44424	0.434000	0.26340	-0.263000	0.10527	TAA		0.318	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
ATP13A5	344905	broad.mit.edu	37	3	192993049	192993049	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:192993049T>G	ENST00000342358.4	-	30	3556	c.3439A>C	c.(3439-3441)Aga>Cga	p.R1147R	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1147						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R1147R(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAAATTCTCTTTTGATCAAC	0.423																																					p.R1147R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3439C	3						.						92.0	90.0	91.0					3																	192993049		2203	4300	6503	194475743	SO:0001819	synonymous_variant	344905	exon30			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3439A>C	3.37:g.192993049T>G			194475743	NM_198505	Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	CCDS33914.1																																																																																				0.423	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
ATP13A4	84239	broad.mit.edu	37	3	193120567	193120567	+	Missense_Mutation	SNP	C	C	A	rs200859894		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:193120567C>A	ENST00000342695.4	-	30	3787	c.3465G>T	c.(3463-3465)caG>caT	p.Q1155H	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q1136H|ATP13A4_ENST00000400270.2_Missense_Mutation_p.Q171H	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1155						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Q1155H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAGTCCCTCTGCCATATCC	0.468																																					p.Q1155H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3465T	3						.						88.0	86.0	87.0					3																	193120567		2203	4300	6503	194603261	SO:0001583	missense	84239	exon30			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3465G>T	3.37:g.193120567C>A	ENSP00000339182:p.Gln1155His		194603261	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193252	0.58017	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.63417	-0.04;-0.04;-0.04	5.0	3.17	0.36434	.	0.094778	0.45606	N	0.000345	T	0.68997	0.3062	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.66340	-0.5948	10	0.51188	T	0.08	-10.8733	5.6238	0.17470	0.0:0.6601:0.1633:0.1765	.	1155	Q4VNC1	AT134_HUMAN	H	171;1136;1155	ENSP00000383129:Q171H;ENSP00000376238:Q1136H;ENSP00000339182:Q1155H	ENSP00000339182:Q1155H	Q	-	3	2	ATP13A4	194603261	0.980000	0.34600	0.980000	0.43619	0.919000	0.55068	0.715000	0.25822	0.602000	0.29896	-0.223000	0.12442	CAG		0.468	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
CPN2	1370	broad.mit.edu	37	3	194063120	194063120	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:194063120G>T	ENST00000323830.3	-	2	401	c.312C>A	c.(310-312)gtC>gtA	p.V104V	CPN2_ENST00000429275.1_Silent_p.V104V	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	104					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.V104V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TACTGCCTGTGACCTCCAGGT	0.587																																					p.V104V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312A	3						.						91.0	88.0	89.0					3																	194063120		2203	4300	6503	195544815	SO:0001819	synonymous_variant	1370	exon2			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.312C>A	3.37:g.194063120G>T			195544815	NM_001080513	B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	CCDS33920.1																																																																																				0.587	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
LRRC15	131578	broad.mit.edu	37	3	194081448	194081448	+	Missense_Mutation	SNP	C	C	T	rs372164095		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:194081448C>T	ENST00000347624.3	-	2	410	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	LRRC15_ENST00000428839.1_Missense_Mutation_p.A115T|LRRC15_ENST00000439944.2_Missense_Mutation_p.A115T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	109					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.A109T(3)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTGTTGTTGGCGAGGCTGAGA	0.597																																					p.A109T												.	.	3	Substitution - Missense(3)	prostate(2)|large_intestine(1)	c.G325A	3						.	A	THR/ALA,THR/ALA	0,4406		0,0,2203	58.0	59.0	59.0		343,325	2.8	1.0	3		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC15	NM_001135057.2,NM_130830.4	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	115/588,109/582	194081448	1,13005	2203	4300	6503	195562743	SO:0001583	missense	131578	exon2			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.325G>A	3.37:g.194081448C>T	ENSP00000306276:p.Ala109Thr		195562743	NM_130830	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	c	13.49	2.254229	0.39896	0.0	1.16E-4	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56941	0.43;0.43;0.43	4.8	2.85	0.33270	.	0.170771	0.39985	N	0.001215	T	0.30634	0.0771	N	0.20530	0.585	0.29852	N	0.828327	P;P	0.40794	0.653;0.729	B;B	0.32090	0.14;0.123	T	0.20140	-1.0284	10	0.15952	T	0.53	.	13.8657	0.63588	0.2772:0.7228:0.0:0.0	.	109;115	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	T	109;115;115	ENSP00000306276:A109T;ENSP00000389128:A115T;ENSP00000413707:A115T	ENSP00000306276:A109T	A	-	1	0	LRRC15	195562743	0.177000	0.23109	0.974000	0.42286	0.868000	0.49771	0.761000	0.26489	1.353000	0.45828	-0.358000	0.07595	GCC		0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
GP5	2814	broad.mit.edu	37	3	194118537	194118537	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:194118537C>T	ENST00000401815.1	-	1	546	c.475G>A	c.(475-477)Gat>Aat	p.D159N	GP5_ENST00000323007.3_Missense_Mutation_p.D159N			P40197	GPV_HUMAN	glycoprotein V (platelet)	159					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.D159N(1)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGAAGGAAATCGAGCTGATTC	0.498																																					p.D159N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	3						.						69.0	72.0	71.0					3																	194118537		2203	4300	6503	195599826	SO:0001583	missense	2814	exon2			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.475G>A	3.37:g.194118537C>T	ENSP00000383931:p.Asp159Asn		195599826	NM_004488	D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	9.057	0.993431	0.19043	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.23950	1.88;1.88	4.82	-4.92	0.03075	.	1.105830	0.07068	N	0.835007	T	0.14830	0.0358	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31503	-0.9941	10	0.31617	T	0.26	.	0.9566	0.01387	0.3012:0.2218:0.0987:0.3783	.	159	P40197	GPV_HUMAN	N	159	ENSP00000383931:D159N;ENSP00000319286:D159N	ENSP00000319286:D159N	D	-	1	0	GP5	195599826	0.000000	0.05858	0.000000	0.03702	0.459000	0.32528	-1.822000	0.01711	-0.964000	0.03595	-0.300000	0.09419	GAT		0.498	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488	
GP5	2814	broad.mit.edu	37	3	194118664	194118664	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:194118664C>T	ENST00000401815.1	-	1	419	c.348G>A	c.(346-348)gcG>gcA	p.A116A	GP5_ENST00000323007.3_Silent_p.A116A			P40197	GPV_HUMAN	glycoprotein V (platelet)	116					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A116A(1)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TATCCAGCAGCGCACCTGGAA	0.517																																					p.A116A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G348A	3						.						83.0	85.0	85.0					3																	194118664		2203	4300	6503	195599953	SO:0001819	synonymous_variant	2814	exon2			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.348G>A	3.37:g.194118664C>T			195599953	NM_004488	D1MER9	Silent	SNP	ENST00000401815.1	37	CCDS3307.1																																																																																				0.517	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488	
RNF168	165918	broad.mit.edu	37	3	196198721	196198721	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:196198721A>C	ENST00000318037.3	-	6	2279	c.1685T>G	c.(1684-1686)gTt>gGt	p.V562G	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	562					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V562G(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CATCTGAAAAACACTTTTCTG	0.403																																					p.V562G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1685G	3						.						150.0	142.0	145.0					3																	196198721		2203	4300	6503	197683118	SO:0001583	missense	165918	exon6			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1685T>G	3.37:g.196198721A>C	ENSP00000320898:p.Val562Gly		197683118	NM_152617	Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518760	0.44763	.	.	ENSG00000163961	ENST00000318037	T	0.08896	3.04	6.08	6.08	0.98989	.	0.094411	0.46442	D	0.000299	T	0.05502	0.0145	N	0.08118	0	0.39736	D	0.971671	B	0.28971	0.229	B	0.19666	0.026	T	0.40251	-0.9573	10	0.87932	D	0	-12.5903	14.881	0.70534	1.0:0.0:0.0:0.0	.	562	Q8IYW5	RN168_HUMAN	G	562	ENSP00000320898:V562G	ENSP00000320898:V562G	V	-	2	0	RNF168	197683118	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	4.262000	0.58847	2.333000	0.79357	0.482000	0.46254	GTT		0.403	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
RNF168	165918	broad.mit.edu	37	3	196229836	196229836	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:196229836G>T	ENST00000318037.3	-	1	803	c.209C>A	c.(208-210)tCt>tAt	p.S70Y		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	70					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S70Y(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTGACGAGAGAATTTCTTCG	0.517																																					p.S70Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C209A	3						.						115.0	98.0	104.0					3																	196229836		2203	4300	6503	197714233	SO:0001583	missense	165918	exon1			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.209C>A	3.37:g.196229836G>T	ENSP00000320898:p.Ser70Tyr		197714233	NM_152617	Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823742	0.71143	.	.	ENSG00000163961	ENST00000318037	T	0.07688	3.17	6.0	6.0	0.97389	Zinc finger, RING/FYVE/PHD-type (1);	0.323634	0.26328	N	0.025017	T	0.21307	0.0513	M	0.62723	1.935	0.42485	D	0.992872	D	0.58970	0.984	P	0.57620	0.824	T	0.03957	-1.0989	10	0.07990	T	0.79	-7.4382	20.5595	0.99322	0.0:0.0:1.0:0.0	.	70	Q8IYW5	RN168_HUMAN	Y	70	ENSP00000320898:S70Y	ENSP00000320898:S70Y	S	-	2	0	RNF168	197714233	1.000000	0.71417	0.971000	0.41717	0.022000	0.10575	7.656000	0.83736	2.868000	0.98415	0.555000	0.69702	TCT		0.517	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
SENP5	205564	broad.mit.edu	37	3	196612455	196612455	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:196612455A>C	ENST00000323460.5	+	2	652	c.403A>C	c.(403-405)Aat>Cat	p.N135H	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.N135H	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	135					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)	p.N135H(1)		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)		CAGAGAGAAAAATCTCTTGAA	0.438																																					p.N135H	Ovarian(47;891 1095 11174 13858 51271)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A403C	3						.						51.0	52.0	51.0					3																	196612455		2203	4300	6503	198096852	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.403A>C	3.37:g.196612455A>C	ENSP00000327197:p.Asn135His		198096852	NM_152699	B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720764	0.30503	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.23348	2.23;1.91	5.03	3.9	0.45041	.	0.562739	0.18465	N	0.140404	T	0.12732	0.0309	N	0.08118	0	0.80722	D	1	B;B	0.32693	0.38;0.214	B;B	0.34873	0.191;0.135	T	0.06625	-1.0816	10	0.62326	D	0.03	-2.2224	5.5151	0.16902	0.8142:0.0:0.1857:0.0	.	135;135	B4DY82;Q96HI0	.;SENP5_HUMAN	H	135	ENSP00000327197:N135H;ENSP00000390231:N135H	ENSP00000327197:N135H	N	+	1	0	SENP5	198096852	0.987000	0.35691	0.988000	0.46212	0.858000	0.48976	1.776000	0.38594	2.191000	0.70037	0.533000	0.62120	AAT		0.438	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
KIAA0226	9711	broad.mit.edu	37	3	197427525	197427525	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:197427525C>T	ENST00000296343.5	-	7	1219	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R347H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.R407H|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R407H	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	407	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.R240H(1)|p.R407H(1)|p.R347H(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		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;0.0446)		CGAATGGGAGCGAATGTGGCT	0.567																																					p.R407H	Esophageal Squamous(3;167 355 3763 15924)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1220A	3						.						84.0	86.0	85.0					3																	197427525		2032	4177	6209	198911922	SO:0001583	missense	9711	exon7			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1220G>A	3.37:g.197427525C>T	ENSP00000296343:p.Arg407His		198911922	NM_014687	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.029192|4.029192	0.75504|0.75504	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048;ENST00000449205	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74261|0.74261	0.3693|0.3693	L|L	0.48642|0.48642	1.525|1.525	0.51012|0.51012	D|D	0.999909|0.999909	.|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;0.997;0.977;0.991;0.961	T|T	0.73180|0.73180	-0.4064|-0.4064	5|9	.|0.44086	.|T	.|0.13	.|.	17.4945|17.4945	0.87713|0.87713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|407;240;407;347;407	.|E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622	.|.;.;.;.;RUBIC_HUMAN	T|H	166|347;407;407;39;407	.|.	.|ENSP00000273582:R347H	A|R	-|-	1|2	0|0	KIAA0226|KIAA0226	198911922|198911922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.584000|0.584000	0.36387|0.36387	5.963000|5.963000	0.70372|0.70372	2.556000|2.556000	0.86216|0.86216	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.567	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	
FYTTD1	84248	broad.mit.edu	37	3	197483318	197483318	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:197483318G>A	ENST00000241502.4	+	2	347	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	FYTTD1_ENST00000424384.2_5'UTR|FYTTD1_ENST00000415708.2_Missense_Mutation_p.R16Q|FYTTD1_ENST00000428395.2_5'UTR	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	42					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.R42Q(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)		AAGTTGAATCGAAAGGAAGGG	0.378																																					p.R16Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G47A	3						.						88.0	88.0	88.0					3																	197483318		2203	4300	6503	198967715	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.125G>A	3.37:g.197483318G>A	ENSP00000241502:p.Arg42Gln		198967715	NM_001011537	A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381741	0.61845	.	.	ENSG00000122068	ENST00000415708;ENST00000241502	T;T	0.56103	0.48;0.48	5.6	3.42	0.39159	.	0.056775	0.64402	D	0.000002	T	0.34337	0.0894	L	0.36672	1.1	0.80722	D	1	B;P	0.47604	0.048;0.898	B;B	0.35655	0.005;0.207	T	0.25984	-1.0116	10	0.66056	D	0.02	-10.8541	6.0581	0.19822	0.2539:0.0:0.7461:0.0	.	16;42	Q96QD9-2;Q96QD9	.;UIF_HUMAN	Q	16;42	ENSP00000393746:R16Q;ENSP00000241502:R42Q	ENSP00000241502:R42Q	R	+	2	0	FYTTD1	198967715	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.934000	0.48956	1.509000	0.48786	0.555000	0.69702	CGA		0.378	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288	
CHL1	10752	broad.mit.edu	37	3	431034	431034	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:431034A>C	ENST00000256509.2	+	20	2989	c.2347A>C	c.(2347-2349)Aac>Cac	p.N783H	CHL1_ENST00000397491.2_Missense_Mutation_p.N767H	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					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.N783H(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)		AACAGTCACAAACCACACATT	0.532																																					p.N783H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2347C	3						.						139.0	120.0	127.0					3																	431034		2203	4300	6503	406034	SO:0001583	missense	10752	exon20			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.2347A>C	3.37:g.431034A>C	ENSP00000256509:p.Asn783His		406034	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935070	0.52866	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.58358	0.34;0.34	5.4	2.68	0.31781	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.312551	0.33610	N	0.004734	T	0.58409	0.2120	L	0.37697	1.125	0.09310	N	1	D;D;P	0.64830	0.994;0.994;0.94	D;D;P	0.69142	0.962;0.962;0.689	T	0.49293	-0.8955	10	0.59425	D	0.04	.	10.4708	0.44635	0.8442:0.0:0.1558:0.0	.	767;767;783	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	H	783;767	ENSP00000256509:N783H;ENSP00000380628:N767H	ENSP00000256509:N783H	N	+	1	0	CHL1	406034	1.000000	0.71417	0.775000	0.31657	0.841000	0.47740	3.019000	0.49635	0.884000	0.36064	0.482000	0.46254	AAC		0.532	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CHL1	10752	broad.mit.edu	37	3	433473	433473	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:433473T>C	ENST00000256509.2	+	23	3549	c.2907T>C	c.(2905-2907)taT>taC	p.Y969Y	CHL1_ENST00000397491.2_Silent_p.Y953Y	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					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.Y969Y(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)		TTTTGCAATATCAGATAAGTA	0.318																																					p.Y969Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2907C	3						.						62.0	63.0	63.0					3																	433473		2203	4298	6501	408473	SO:0001819	synonymous_variant	10752	exon23			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.2907T>C	3.37:g.433473T>C			408473	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	8.009	0.757053	0.15846	.	.	ENSG00000134121	ENST00000445697	.	.	.	5.62	1.71	0.24356	.	.	.	.	.	T	0.57007	0.2024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47446	-0.9117	4	.	.	.	.	8.4022	0.32592	0.0:0.6048:0.0:0.3952	.	.	.	.	T	156	.	.	I	+	2	0	CHL1	408473	0.532000	0.26346	0.997000	0.53966	0.933000	0.57130	-0.298000	0.08265	0.017000	0.15025	-0.248000	0.11899	ATC		0.318	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
ITPR1	3708	broad.mit.edu	37	3	4687079	4687079	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:4687079C>T	ENST00000443694.2	+	7	633	c.633C>T	c.(631-633)tcC>tcT	p.S211S	ITPR1_ENST00000357086.4_Silent_p.S211S|ITPR1_ENST00000544951.1_Silent_p.S211S|ITPR1_ENST00000456211.2_Silent_p.S211S|ITPR1_ENST00000354582.6_Silent_p.S211S|ITPR1_ENST00000423119.2_Silent_p.S211S|ITPR1_ENST00000302640.8_Silent_p.S211S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	211	MIR 2. {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.S211S(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)	AGGTCAATTCCGTCAACTGCA	0.438																																					p.S211S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	3						.						75.0	74.0	74.0					3																	4687079		1951	4154	6105	4662079	SO:0001819	synonymous_variant	3708	exon9			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.633C>T	3.37:g.4687079C>T			4662079	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.438	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
GRM7	2917	broad.mit.edu	37	3	7340431	7340431	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:7340431A>C	ENST00000357716.4	+	3	1071	c.797A>C	c.(796-798)gAc>gCc	p.D266A	GRM7_ENST00000389336.4_Missense_Mutation_p.D266A|GRM7_ENST00000486284.1_Missense_Mutation_p.D266A|GRM7_ENST00000403881.1_Missense_Mutation_p.D266A|GRM7_ENST00000402647.2_Missense_Mutation_p.D266A	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	266					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.D266A(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						AGGACCATTGACTTTGATAGA	0.448																																					p.D266A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A797C	3						.						83.0	82.0	82.0					3																	7340431		2203	4299	6502	7315431	SO:0001583	missense	2917	exon3			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.797A>C	3.37:g.7340431A>C	ENSP00000350348:p.Asp266Ala		7315431	NM_000844	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985408	0.35036	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.054326	0.64402	D	0.000001	D	0.82356	0.5019	N	0.26130	0.795	0.50467	D	0.999872	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.17979	0.011;0.019;0.02	T	0.77062	-0.2727	10	0.25751	T	0.34	.	14.4308	0.67249	1.0:0.0:0.0:0.0	.	266;266;266	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	A	58;266;266;266;266;266;266;266	ENSP00000393799:D58A;ENSP00000350348:D266A;ENSP00000417536:D266A;ENSP00000373987:D266A;ENSP00000385664:D266A;ENSP00000384585:D266A	ENSP00000350348:D266A	D	+	2	0	GRM7	7315431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.327000	0.79147	2.141000	0.66446	0.528000	0.53228	GAC		0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
CAV3	859	broad.mit.edu	37	3	8787497	8787497	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:8787497G>A	ENST00000343849.2	+	2	477	c.400G>A	c.(400-402)Gcg>Acg	p.A134T	SSUH2_ENST00000478513.1_5'Flank|CAV3_ENST00000397368.2_Missense_Mutation_p.A134T|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	134					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)	p.A134T(2)		breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CCCACTCTTCGCGGCCCTGGG	0.622																																					p.A134T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G400A	3						.						121.0	96.0	104.0					3																	8787497		2203	4300	6503	8762497	SO:0001583	missense	859	exon2			AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"""M-caveolin"""	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.400G>A	3.37:g.8787497G>A	ENSP00000341940:p.Ala134Thr		8762497	NM_001234	A8K777|Q3T1A4	Missense_Mutation	SNP	ENST00000343849.2	37	CCDS2569.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527685	0.64860	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.92397	-3.03;-3.03	4.79	2.96	0.34315	.	0.220982	0.45126	N	0.000384	T	0.79387	0.4437	N	0.04018	-0.295	0.35035	D	0.759127	P	0.34977	0.478	B	0.32533	0.147	T	0.80955	-0.1151	10	0.30078	T	0.28	-10.9721	10.0206	0.42041	0.1701:0.0:0.8299:0.0	.	134	P56539	CAV3_HUMAN	T	134	ENSP00000341940:A134T;ENSP00000380525:A134T	ENSP00000341940:A134T	A	+	1	0	CAV3	8762497	1.000000	0.71417	0.868000	0.34077	0.994000	0.84299	5.202000	0.65169	1.231000	0.43661	0.491000	0.48974	GCG		0.622	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337	
RAD18	56852	broad.mit.edu	37	3	8977606	8977606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:8977606C>A	ENST00000264926.2	-	7	954	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	280	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)	p.E280*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTACAAATTCTTGGTGCCTT	0.328								Rad6 pathway																													p.E280X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G838T	3						.						199.0	188.0	192.0					3																	8977606		2203	4300	6503	8952606	SO:0001587	stop_gained	56852	exon7				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.838G>T	3.37:g.8977606C>A	ENSP00000264926:p.Glu280*		8952606	NM_020165	Q58F55|Q9NRT6	Nonsense_Mutation	SNP	ENST00000264926.2	37	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	38	6.962990	0.97967	.	.	ENSG00000070950	ENST00000264926	.	.	.	5.84	5.84	0.93424	.	0.230770	0.43579	D	0.000546	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.0234	18.7002	0.91618	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000264926:E280X	E	-	1	0	RAD18	8952606	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.630000	0.67805	2.774000	0.95407	0.484000	0.47621	GAA		0.328	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165	
TADA3	10474	broad.mit.edu	37	3	9833114	9833114	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:9833114C>T	ENST00000301964.2	-	2	595	c.37G>A	c.(37-39)Gac>Aac	p.D13N	ARPC4_ENST00000498623.2_5'Flank|TADA3_ENST00000343450.2_Missense_Mutation_p.D13N|ARPC4-TTLL3_ENST00000397256.1_5'Flank|ARPC4_ENST00000397261.3_5'Flank|ARPC4_ENST00000287613.7_5'Flank|TADA3_ENST00000492635.1_Intron|ARPC4_ENST00000433034.1_5'Flank|TADA3_ENST00000440161.1_Missense_Mutation_p.D13N	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	13					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D13N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GACTTGAAGTCGTGGAACTGC	0.577																																					p.D13N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G37A	3						.						75.0	64.0	68.0					3																	9833114		2203	4300	6503	9808114	SO:0001583	missense	10474	exon2			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.37G>A	3.37:g.9833114C>T	ENSP00000307684:p.Asp13Asn		9808114	NM_133480	Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343066	0.95783	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450;ENST00000439043	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	L	0.53249	1.67	0.80722	D	1	D	0.65815	0.995	P	0.54815	0.761	T	0.71550	-0.4559	9	0.66056	D	0.02	-3.3202	17.8004	0.88585	0.0:1.0:0.0:0.0	.	13	O75528	TADA3_HUMAN	N	13	.	ENSP00000307684:D13N	D	-	1	0	TADA3	9808114	1.000000	0.71417	0.973000	0.42090	0.891000	0.51852	7.487000	0.81328	2.204000	0.70986	0.561000	0.74099	GAC		0.577	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1		
EFHB	151651	broad.mit.edu	37	3	19956849	19956849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:19956849C>A	ENST00000295824.9	-	5	1395	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Nonsense_Mutation_p.E282*	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	412							calcium ion binding (GO:0005509)	p.E412*(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCATTTCCTTCTTTAAATACT	0.363																																					p.E412X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1234T	3						.						101.0	97.0	99.0					3																	19956849		2202	4299	6501	19931853	SO:0001587	stop_gained	151651	exon5			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1234G>T	3.37:g.19956849C>A	ENSP00000295824:p.Glu412*		19931853	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Nonsense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	37	6.526058	0.97637	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	.	.	.	4.73	4.73	0.59995	.	0.085233	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.5495	15.0069	0.71519	0.0:1.0:0.0:0.0	.	.	.	.	X	412;282;412;149	.	.	E	-	1	0	EFHB	19931853	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	4.855000	0.62925	2.330000	0.79161	0.555000	0.69702	GAA		0.363	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
EFHB	151651	broad.mit.edu	37	3	19975022	19975022	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:19975022G>A	ENST00000295824.9	-	1	650	c.489C>T	c.(487-489)ttC>ttT	p.F163F	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	163							calcium ion binding (GO:0005509)	p.F163F(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GTTCCATAACGAAAGCAGGCT	0.493																																					p.F163F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489T	3						.						100.0	104.0	103.0					3																	19975022		2203	4300	6503	19950026	SO:0001819	synonymous_variant	151651	exon1			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.489C>T	3.37:g.19975022G>A			19950026	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	CCDS33715.2																																																																																				0.493	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
EFHB	151651	broad.mit.edu	37	3	19975203	19975203	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:19975203G>T	ENST00000295824.9	-	1	469	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	103							calcium ion binding (GO:0005509)	p.S103Y(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGGCAACAGAGAAGGTTTTGT	0.453																																					p.S103Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308A	3						.						139.0	138.0	139.0					3																	19975203		2030	4190	6220	19950207	SO:0001583	missense	151651	exon1			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.308C>A	3.37:g.19975203G>T	ENSP00000295824:p.Ser103Tyr		19950207	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695110	0.48202	.	.	ENSG00000163576	ENST00000295824;ENST00000389256	T;T	0.29142	1.58;1.86	3.39	2.51	0.30379	.	.	.	.	.	T	0.24084	0.0583	L	0.39898	1.24	0.09310	N	0.999991	P	0.50943	0.94	B	0.41571	0.36	T	0.07083	-1.0791	8	.	.	.	0.3203	8.7763	0.34765	0.0:0.2317:0.7683:0.0	.	103	Q8N7U6	EFHB_HUMAN	Y	103	ENSP00000295824:S103Y;ENSP00000373908:S103Y	.	S	-	2	0	EFHB	19950207	0.652000	0.27349	0.087000	0.20705	0.360000	0.29518	0.358000	0.20216	0.981000	0.38548	-0.314000	0.08810	TCT		0.453	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
SGOL1	151648	broad.mit.edu	37	3	20202665	20202665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:20202665G>A	ENST00000263753.4	-	9	1757	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	SGOL1_ENST00000306698.2_Nonsense_Mutation_p.R271*|SGOL1_ENST00000425061.1_Nonsense_Mutation_p.R288*|SGOL1_ENST00000383774.1_Nonsense_Mutation_p.R194*|SGOL1_ENST00000421451.1_Nonsense_Mutation_p.R540*|SGOL1_ENST00000419233.2_Nonsense_Mutation_p.R288*|SGOL1_ENST00000443724.1_Nonsense_Mutation_p.R194*|SGOL1_ENST00000452020.1_Nonsense_Mutation_p.R271*	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	540					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.R540*(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						acaaattctcgaacataatat	0.388																																					p.R271X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C811T	3						.						73.0	77.0	76.0					3																	20202665		2203	4300	6503	20177669	SO:0001587	stop_gained	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.1618C>T	3.37:g.20202665G>A	ENSP00000263753:p.Arg540*		20177669	NM_001199256	Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Nonsense_Mutation	SNP	ENST00000263753.4	37	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	-	10.84	1.465390	0.26335	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020	.	.	.	1.57	-3.15	0.05233	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3172	0.04201	0.3748:0.0:0.377:0.2482	.	.	.	.	X	271;288;540;194;288;194;540;271	.	ENSP00000263753:R540X	R	-	1	2	SGOL1	20177669	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.780000	0.01775	-1.058000	0.03197	-0.693000	0.03709	CGA		0.388	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484	
ZNF385D	79750	broad.mit.edu	37	3	21552375	21552375	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:21552375G>T	ENST00000281523.2	-	4	935	c.417C>A	c.(415-417)atC>atA	p.I139I	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	139	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I139I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGCTGGTATTGATGGTATTGG	0.463																																					p.I139I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417A	3						.						349.0	293.0	312.0					3																	21552375		2203	4300	6503	21527379	SO:0001819	synonymous_variant	79750	exon4			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.417C>A	3.37:g.21552375G>T			21527379	NM_024697		Silent	SNP	ENST00000281523.2	37	CCDS2636.1																																																																																				0.463	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
ZNF385D	79750	broad.mit.edu	37	3	21552474	21552474	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:21552474C>A	ENST00000281523.2	-	4	836	c.318G>T	c.(316-318)aaG>aaT	p.K106N	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	106						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K106N(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTGAGCTTCTTGGCATGTT	0.458																																					p.K106N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G318T	3						.						262.0	213.0	230.0					3																	21552474		2203	4300	6503	21527478	SO:0001583	missense	79750	exon4			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.318G>T	3.37:g.21552474C>A	ENSP00000281523:p.Lys106Asn		21527478	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763046	0.89932	.	.	ENSG00000151789	ENST00000281523	T	0.51071	0.72	5.52	5.52	0.82312	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	L	0.50333	1.59	0.58432	D	0.999998	D	0.71674	0.998	D	0.75484	0.986	T	0.60490	-0.7253	10	0.37606	T	0.19	-13.4062	19.4149	0.94690	0.0:1.0:0.0:0.0	.	106	Q9H6B1	Z385D_HUMAN	N	106	ENSP00000281523:K106N	ENSP00000281523:K106N	K	-	3	2	ZNF385D	21527478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.666000	0.83877	2.586000	0.87340	0.650000	0.86243	AAG		0.458	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
UBE2E2	7325	broad.mit.edu	37	3	23541165	23541165	+	Silent	SNP	C	C	A	rs368043190		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:23541165C>A	ENST00000396703.1	+	4	474	c.294C>A	c.(292-294)gtC>gtA	p.V98V	UBE2E2_ENST00000425792.1_Silent_p.V98V	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	98					ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)		ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.V98V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						CAGGATCTGTCTATGAAGGAG	0.393																																					p.V98V	GBM(85;1941 2083 9456)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294A	3						.						104.0	95.0	98.0					3																	23541165		2203	4300	6503	23516169	SO:0001819	synonymous_variant	7325	exon4			AK057886	CCDS2637.1	3p24.2	2011-05-19	2011-05-19		ENSG00000182247	ENSG00000182247		"""Ubiquitin-conjugating enzymes E2"""	12478	protein-coding gene	gene with protein product		602163	"""ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"""			9371400	Standard	NM_152653		Approved	UbcH8, FLJ25157	uc003ccg.2	Q96LR5	OTTHUMG00000130482	ENST00000396703.1:c.294C>A	3.37:g.23541165C>A			23516169	NM_152653		Silent	SNP	ENST00000396703.1	37	CCDS2637.1																																																																																				0.393	UBE2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252881.2	NM_152653	
NR1D2	9975	broad.mit.edu	37	3	23997605	23997605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:23997605G>A	ENST00000312521.4	+	3	680	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	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	121					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.E121K(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TCATGCTTGCGAAGGCTGTAA	0.418																																					p.E121K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	3						.						316.0	288.0	297.0					3																	23997605		2203	4300	6503	23972609	SO:0001583	missense	9975	exon3			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.361G>A	3.37:g.23997605G>A	ENSP00000310006:p.Glu121Lys		23972609	NM_005126	B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631318	0.96682	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.98060	-4.69	5.72	5.72	0.89469	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.091036	0.85682	D	0.000000	D	0.98921	0.9634	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99671	1.0996	10	0.87932	D	0	.	19.8587	0.96776	0.0:0.0:1.0:0.0	.	121	Q14995	NR1D2_HUMAN	K	121	ENSP00000310006:E121K	ENSP00000310006:E121K	E	+	1	0	NR1D2	23972609	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.700000	0.92200	0.555000	0.69702	GAA		0.418	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3		
RARB	5915	broad.mit.edu	37	3	25542760	25542760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:25542760C>T	ENST00000404969.1	+	3	415	c.415C>T	c.(415-417)Cga>Tga	p.R139*	RARB_ENST00000458646.1_Nonsense_Mutation_p.R20*|RARB_ENST00000437042.2_Nonsense_Mutation_p.R20*|RARB_ENST00000330688.4_Nonsense_Mutation_p.R132*|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	139					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.R132*(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)	CACCAGGAATCGATGCCAATA	0.398																																					p.R132X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C394T	3						.						110.0	111.0	111.0					3																	25542760		2203	4300	6503	25517764	SO:0001587	stop_gained	5915	exon3			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.415C>T	3.37:g.25542760C>T	ENSP00000385865:p.Arg139*		25517764	NM_000965	P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	C	42	9.409609	0.99163	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2626	0.90041	0.0:1.0:0.0:0.0	.	.	.	.	X	139;139;139;20;132;20	.	ENSP00000332296:R132X	R	+	1	2	RARB	25517764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.286000	0.76751	0.650000	0.86243	CGA		0.398	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
NGLY1	55768	broad.mit.edu	37	3	25805745	25805745	+	Missense_Mutation	SNP	G	G	A	rs375732599		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:25805745G>A	ENST00000280700.5	-	3	464	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	NGLY1_ENST00000428257.1_Missense_Mutation_p.R102C|NGLY1_ENST00000417874.2_Missense_Mutation_p.R60C|NGLY1_ENST00000396649.3_Missense_Mutation_p.R102C|NGLY1_ENST00000422724.2_Missense_Mutation_p.R25C	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	102					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.R102S(1)|p.R102C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCAGGTCACGAATTTTTTGC	0.403																																					p.R60C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C178T	3						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	183.0	184.0	184.0		304,178,304,304	6.0	1.0	3		184	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	NGLY1	NM_001145293.1,NM_001145294.1,NM_001145295.1,NM_018297.3	180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	102/637,60/613,102/559,102/655	25805745	1,13005	2203	4300	6503	25780749	SO:0001583	missense	55768	exon3			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.304C>T	3.37:g.25805745G>A	ENSP00000280700:p.Arg102Cys		25780749	NM_001145294	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303379	0.81136	0.0	1.16E-4	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874;ENST00000427041	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;1.38	5.97	5.97	0.96955	PUB domain (1);	0.043323	0.85682	D	0.000000	T	0.69169	0.3081	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.994;0.991;0.999	T	0.71424	-0.4597	10	0.72032	D	0.01	-13.707	14.094	0.65008	0.0:0.0:0.8494:0.1506	.	60;102;102;102	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	C	102;102;102;99;25;60;25	ENSP00000387430:R102C;ENSP00000280700:R102C;ENSP00000379886:R102C;ENSP00000307980:R99C;ENSP00000389888:R60C	ENSP00000280700:R102C	R	-	1	0	NGLY1	25780749	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	2.964000	0.49192	2.836000	0.97738	0.655000	0.94253	CGT		0.403	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2		
EOMES	8320	broad.mit.edu	37	3	27761750	27761750	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:27761750G>A	ENST00000295743.4	-	2	1151	c.948C>T	c.(946-948)ttC>ttT	p.F316F	EOMES_ENST00000449599.1_Silent_p.F316F|EOMES_ENST00000537516.1_Silent_p.F21F|EOMES_ENST00000461503.1_5'UTR			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	
GLB1	2720	broad.mit.edu	37	3	33114136	33114136	+	Missense_Mutation	SNP	G	G	A	rs72555358		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:33114136G>A	ENST00000399402.3	-	2	186	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	GLB1_ENST00000445488.2_Missense_Mutation_p.R97C|GLB1_ENST00000307377.8_Missense_Mutation_p.R49C|GLB1_ENST00000307363.5_Missense_Mutation_p.R49C	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	49					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.R49C(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)				GAGATGTAGCGAAATGGCTGG	0.537																																					p.R49C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C145T	3	GRCh37	CM910181	GLB1	M	rs72555358	.						76.0	80.0	79.0					3																	33114136		1985	4171	6156	33089140	SO:0001583	missense	2720	exon2			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.55C>T	3.37:g.33114136G>A	ENSP00000382333:p.Arg19Cys		33089140	NM_001135602	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359484	0.95854	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377;ENST00000450835;ENST00000436768	D;D;D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68	5.83	5.83	0.93111	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	H	0.94264	3.515	0.80722	A	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.978;0.999;0.997	D	0.99194	1.0871	9	0.87932	D	0	-20.1567	19.7189	0.96135	0.0:0.0:1.0:0.0	.	49;49;49;97	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	C	19;49;97;49;19;97	ENSP00000382333:R19C;ENSP00000306920:R49C;ENSP00000393377:R97C;ENSP00000305920:R49C;ENSP00000403264:R19C;ENSP00000387989:R97C	ENSP00000306920:R49C	R	-	1	0	GLB1	33089140	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	9.773000	0.98989	2.750000	0.94351	0.591000	0.81541	CGC		0.537	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404	
SUSD5	26032	broad.mit.edu	37	3	33195089	33195089	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:33195089A>G	ENST00000309558.3	-	5	1452	c.1035T>C	c.(1033-1035)ggT>ggC	p.G345G		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	345					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.G345G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCCCGAGGGACCATCAGTGT	0.517																																					p.G345G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1035C	3						.						71.0	74.0	73.0					3																	33195089		2069	4205	6274	33170093	SO:0001819	synonymous_variant	26032	exon5			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1035T>C	3.37:g.33195089A>G			33170093	NM_015551		Silent	SNP	ENST00000309558.3	37	CCDS46787.1																																																																																				0.517	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054	
SUSD5	26032	broad.mit.edu	37	3	33255459	33255459	+	Missense_Mutation	SNP	G	G	A	rs200554475		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:33255459G>A	ENST00000309558.3	-	2	668	c.251C>T	c.(250-252)gCg>gTg	p.A84V		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	84	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.A84V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGTGCACACCGCAAAGGAGCA	0.572																																					p.A84V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251T	3						.	G	VAL/ALA	0,4074		0,0,2037	77.0	81.0	79.0		251	3.8	0.0	3		79	1,8363		0,1,4181	no	missense	SUSD5	NM_015551.1	64	0,1,6218	AA,AG,GG		0.012,0.0,0.0080	benign	84/630	33255459	1,12437	2037	4182	6219	33230463	SO:0001583	missense	26032	exon2			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.251C>T	3.37:g.33255459G>A	ENSP00000308727:p.Ala84Val		33230463	NM_015551		Missense_Mutation	SNP	ENST00000309558.3	37	CCDS46787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.455|8.455	0.853960|0.853960	0.17106|0.17106	0.0|0.0	1.2E-4|1.2E-4	ENSG00000173705|ENSG00000173705	ENST00000309558|ENST00000412539	T|.	0.09723|.	2.95|.	4.68|4.68	3.79|3.79	0.43588|0.43588	C-type lectin fold (1);Link (3);C-type lectin-like (1);|.	0.565260|.	0.17515|.	N|.	0.171448|.	T|T	0.51415|0.51415	0.1673|0.1673	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	P|.	0.48016|.	0.904|.	B|.	0.42522|.	0.39|.	T|T	0.39820|0.39820	-0.9595|-0.9595	10|5	0.39692|.	T|.	0.17|.	-2.1212|-2.1212	11.325|11.325	0.49444|0.49444	0.0:0.0:0.8176:0.1824|0.0:0.0:0.8176:0.1824	.|.	84|.	O60279|.	SUSD5_HUMAN|.	V|W	84|83	ENSP00000308727:A84V|.	ENSP00000308727:A84V|.	A|R	-|-	2|1	0|2	SUSD5|SUSD5	33230463|33230463	0.486000|0.486000	0.25980|0.25980	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	4.526000|4.526000	0.60566|0.60566	0.916000|0.916000	0.36871|0.36871	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.572	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054	
ARPP21	10777	broad.mit.edu	37	3	35729372	35729372	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:35729372A>C	ENST00000187397.4	+	6	859	c.403A>C	c.(403-405)Aaa>Caa	p.K135Q	ARPP21_ENST00000417925.1_Missense_Mutation_p.K135Q|ARPP21_ENST00000444190.1_Missense_Mutation_p.K135Q|ARPP21_ENST00000337271.5_Missense_Mutation_p.K135Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.K135Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	135					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.K135Q(1)		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						AATGTTATCAAAAGGTGAATG	0.343																																					p.K135Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A403C	3						.						105.0	114.0	111.0					3																	35729372		2203	4299	6502	35704376	SO:0001583	missense	10777	exon6			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.403A>C	3.37:g.35729372A>C	ENSP00000187397:p.Lys135Gln		35704376	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970555	0.74246	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.24908	1.83;1.85;1.85;1.83;1.83	5.69	5.69	0.88448	.	0.116625	0.56097	D	0.000030	T	0.36744	0.0978	L	0.54323	1.7	0.47511	D	0.999447	P;P;P	0.48640	0.911;0.913;0.911	P;P;P	0.50791	0.65;0.448;0.549	T	0.04216	-1.0968	9	.	.	.	-23.7424	15.6191	0.76790	1.0:0.0:0.0:0.0	.	135;135;135	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	Q	135	ENSP00000414351:K135Q;ENSP00000337792:K135Q;ENSP00000405276:K135Q;ENSP00000187397:K135Q;ENSP00000412326:K135Q	.	K	+	1	0	ARPP21	35704376	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.236000	0.65354	2.167000	0.68274	0.477000	0.44152	AAA		0.343	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
ARPP21	10777	broad.mit.edu	37	3	35763216	35763216	+	Missense_Mutation	SNP	G	G	A	rs535145550		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:35763216G>A	ENST00000187397.4	+	14	1571	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ARPP21_ENST00000417925.1_Missense_Mutation_p.R338H|ARPP21_ENST00000444190.1_Missense_Mutation_p.R318H|ARPP21_ENST00000337271.5_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	
TRANK1	9881	broad.mit.edu	37	3	36893263	36893263	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:36893263T>G	ENST00000429976.2	-	14	4949	c.4702A>C	c.(4702-4704)Aaa>Caa	p.K1568Q	TRANK1_ENST00000301807.6_Missense_Mutation_p.K1018Q|TRANK1_ENST00000463984.1_5'Flank|TRANK1_ENST00000428977.2_Missense_Mutation_p.K1018Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1568							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.K1018Q(2)|p.K1568Q(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						TCTAAGCCTTTTGCTTCATAA	0.358																																					p.K1568Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A4702C	3						.						68.0	67.0	68.0					3																	36893263		1837	4084	5921	36868267	SO:0001583	missense	9881	exon14			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.4702A>C	3.37:g.36893263T>G	ENSP00000416168:p.Lys1568Gln		36868267	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221422	0.79464	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.89617	-2.54;-2.54;-2.54	5.72	5.72	0.89469	.	0.000000	0.53938	D	0.000058	D	0.96399	0.8825	H	0.96239	3.79	0.44995	D	0.998019	D	0.89917	1.0	D	0.91635	0.999	D	0.97646	1.0151	10	0.87932	D	0	.	16.3141	0.82909	0.0:0.0:0.0:1.0	.	1568	O15050	TRNK1_HUMAN	Q	1018;1568;1018	ENSP00000416826:K1018Q;ENSP00000416168:K1568Q;ENSP00000301807:K1018Q	ENSP00000301807:K1018Q	K	-	1	0	TRANK1	36868267	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	5.833000	0.69349	2.317000	0.78254	0.460000	0.39030	AAA		0.358	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
GOLGA4	2803	broad.mit.edu	37	3	37379195	37379195	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:37379195G>A	ENST00000361924.2	+	19	6740	c.6366G>A	c.(6364-6366)tcG>tcA	p.S2122S	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.S2137S	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2122					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.S2122S(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						TCAGTGATTCGAAATTGAAAG	0.368																																					p.S2137S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6411A	3						.						102.0	95.0	97.0					3																	37379195		2203	4300	6503	37354199	SO:0001819	synonymous_variant	2803	exon19			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.6366G>A	3.37:g.37379195G>A			37354199	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	CCDS2666.1																																																																																				0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
ITGA9	3680	broad.mit.edu	37	3	37818977	37818977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:37818977C>T	ENST00000264741.5	+	24	2892	c.2636C>T	c.(2635-2637)gCt>gTt	p.A879V	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	879					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.A879V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACAATATTTGCTTTTTTCACA	0.433																																					p.A879V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2636T	3						.						119.0	116.0	117.0					3																	37818977		2203	4300	6503	37793981	SO:0001583	missense	3680	exon24			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2636C>T	3.37:g.37818977C>T	ENSP00000264741:p.Ala879Val		37793981	NM_002207	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060762	0.93846	.	.	ENSG00000144668	ENST00000264741	T	0.51574	0.7	5.66	5.66	0.87406	Integrin alpha-2 (1);	0.047813	0.85682	D	0.000000	T	0.56673	0.2001	M	0.67953	2.075	0.80722	D	1	P	0.51240	0.943	P	0.48873	0.593	T	0.51718	-0.8670	10	0.29301	T	0.29	.	18.8957	0.92423	0.0:1.0:0.0:0.0	.	879	Q13797	ITA9_HUMAN	V	879	ENSP00000264741:A879V	ENSP00000264741:A879V	A	+	2	0	ITGA9	37793981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.065000	0.76727	2.832000	0.97577	0.655000	0.94253	GCT		0.433	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
CTDSPL	10217	broad.mit.edu	37	3	37988694	37988694	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:37988694C>T	ENST00000273179.5	+	2	252	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	CTDSPL_ENST00000443503.2_Missense_Mutation_p.L76F	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	76						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.L76F(1)		breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		GAATGGTGGGCTTCAGAAGGT	0.527																																					p.L76F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C226T	3						.						72.0	72.0	72.0					3																	37988694		2203	4300	6503	37963698	SO:0001583	missense	10217	exon2			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.226C>T	3.37:g.37988694C>T	ENSP00000273179:p.Leu76Phe		37963698	NM_005808	Q3ZTU0|Q70KI4|Q7Z5Q2	Missense_Mutation	SNP	ENST00000273179.5	37	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.886115	0.33348	.	.	ENSG00000144677	ENST00000443503;ENST00000273179	T;T	0.15139	2.49;2.45	5.2	5.2	0.72013	.	0.119776	0.64402	D	0.000018	T	0.18635	0.0447	L	0.50333	1.59	0.42398	D	0.992559	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.01869	-1.1257	10	0.46703	T	0.11	-19.4081	14.0246	0.64577	0.1511:0.8489:0.0:0.0	.	76;76	O15194-2;O15194	.;CTDSL_HUMAN	F	76	ENSP00000398288:L76F;ENSP00000273179:L76F	ENSP00000273179:L76F	L	+	1	0	CTDSPL	37963698	0.998000	0.40836	0.979000	0.43373	0.964000	0.63967	3.481000	0.53179	2.599000	0.87857	0.655000	0.94253	CTT		0.527	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808	
OXSR1	9943	broad.mit.edu	37	3	38291479	38291479	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:38291479G>T	ENST00000446845.1	+	15	1717	c.1345G>T	c.(1345-1347)Gat>Tat	p.D449Y	OXSR1_ENST00000311806.3_Missense_Mutation_p.D449Y					oxidative stress responsive 1									p.D449Y(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGAACTAAATGATATTCGATT	0.299																																					p.D449Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1345T	3						.						53.0	56.0	55.0					3																	38291479		2203	4298	6501	38266483	SO:0001583	missense	9943	exon15			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.1345G>T	3.37:g.38291479G>T	ENSP00000415851:p.Asp449Tyr		38266483	NM_005109		Missense_Mutation	SNP	ENST00000446845.1	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.414335	0.83449	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.38077	1.16;1.16	5.57	5.57	0.84162	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);	0.041959	0.85682	D	0.000000	T	0.62612	0.2442	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65360	-0.6187	10	0.87932	D	0	-22.0857	17.0744	0.86582	0.0:0.0:1.0:0.0	.	449	O95747	OXSR1_HUMAN	Y	449	ENSP00000415851:D449Y;ENSP00000311713:D449Y	ENSP00000311713:D449Y	D	+	1	0	OXSR1	38266483	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.924000	0.87555	2.795000	0.96236	0.655000	0.94253	GAT		0.299	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	
SLC22A14	9389	broad.mit.edu	37	3	38347682	38347682	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:38347682C>T	ENST00000273173.4	+	1	256	c.165C>T	c.(163-165)ctC>ctT	p.L55L	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Silent_p.L55L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	55					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.L55L(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)		TTGCCAACCTCCTGGATGCGG	0.537																																					p.L55L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	3						.						179.0	149.0	159.0					3																	38347682		2203	4300	6503	38322686	SO:0001819	synonymous_variant	9389	exon1			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.165C>T	3.37:g.38347682C>T			38322686	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	CCDS2677.1																																																																																				0.537	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
SCN5A	6331	broad.mit.edu	37	3	38595795	38595795	+	Silent	SNP	G	G	A	rs141789366	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:38595795G>A	ENST00000333535.4	-	27	4937	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F	SCN5A_ENST00000450102.2_Silent_p.F1542F|SCN5A_ENST00000425664.1_Silent_p.F1578F|SCN5A_ENST00000443581.1_Silent_p.F1595F|SCN5A_ENST00000414099.2_Silent_p.F1578F|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000449557.2_Silent_p.F1542F|SCN5A_ENST00000451551.2_Silent_p.F1542F|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000413689.1_Silent_p.F1596F|SCN5A_ENST00000423572.2_Silent_p.F1595F			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	
SCN10A	6336	broad.mit.edu	37	3	38743472	38743472	+	Silent	SNP	C	C	T	rs191624001	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:38743472C>T	ENST00000449082.2	-	26	4514	c.4515G>A	c.(4513-4515)acG>acA	p.T1505T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1505					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.T1505T(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)	CCAGAATTTTCGTCTTTTCTT	0.453													C|||	15	0.00299521	0.0	0.0	5008	,	,		21612	0.0139		0.0	False		,,,				2504	0.001				p.T1505T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4515A	3						.						167.0	146.0	153.0					3																	38743472		2203	4300	6503	38718476	SO:0001819	synonymous_variant	6336	exon26			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.4515G>A	3.37:g.38743472C>T			38718476	NM_006514	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38770173	38770173	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:38770173C>T	ENST00000449082.2	-	15	2499	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	834					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.D834N(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)	TGGAAGAAGTCGTGCATGTGC	0.512																																					p.D834N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2500A	3						.						116.0	110.0	112.0					3																	38770173		2203	4300	6503	38745177	SO:0001583	missense	6336	exon15			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.2500G>A	3.37:g.38770173C>T	ENSP00000390600:p.Asp834Asn		38745177	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111250	0.94339	.	.	ENSG00000185313	ENST00000449082	D	0.97256	-4.31	5.05	5.05	0.67936	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	L	0.52364	1.645	0.58432	D	0.999997	D	0.89917	1.0	D	0.70716	0.97	D	0.98705	1.0702	10	0.87932	D	0	.	18.5967	0.91231	0.0:1.0:0.0:0.0	.	834	Q9Y5Y9	SCNAA_HUMAN	N	834	ENSP00000390600:D834N	ENSP00000390600:D834N	D	-	1	0	SCN10A	38745177	1.000000	0.71417	0.955000	0.39395	0.902000	0.53008	7.606000	0.82863	2.625000	0.88918	0.655000	0.94253	GAC		0.512	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	38889083	38889083	+	Missense_Mutation	SNP	G	G	A	rs374311646		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:38889083G>A	ENST00000302328.3	-	26	4676	c.4478C>T	c.(4477-4479)tCg>tTg	p.S1493L	SCN11A_ENST00000450244.1_Missense_Mutation_p.S1493L|SCN11A_ENST00000456224.3_Missense_Mutation_p.S1455L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1493					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.S1493L(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)	AGAAGGAAGCGACATCATCAG	0.473																																					p.S1493L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4478T	3						.	G	LEU/SER	0,4406		0,0,2203	86.0	87.0	87.0		4478	5.8	1.0	3		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN11A	NM_014139.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1493/1792	38889083	1,13005	2203	4300	6503	38864087	SO:0001583	missense	11280	exon26			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.4478C>T	3.37:g.38889083G>A	ENSP00000307599:p.Ser1493Leu		38864087	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290346	0.95546	0.0	1.16E-4	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98889	-5.21;-5.21;-5.21	5.81	5.81	0.92471	Ion transport (1);	0.109714	0.64402	D	0.000004	D	0.99576	0.9847	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97830	1.0262	10	0.87932	D	0	.	20.0787	0.97763	0.0:0.0:1.0:0.0	.	1493	Q9UI33	SCNBA_HUMAN	L	1493;1493;1455	ENSP00000307599:S1493L;ENSP00000400945:S1493L;ENSP00000416757:S1455L	ENSP00000307599:S1493L	S	-	2	0	SCN11A	38864087	1.000000	0.71417	0.974000	0.42286	0.931000	0.56810	9.859000	0.99545	2.750000	0.94351	0.637000	0.83480	TCG		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
TTC21A	199223	broad.mit.edu	37	3	39166826	39166826	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:39166826C>T	ENST00000431162.2	+	11	1353	c.1219C>T	c.(1219-1221)Cta>Tta	p.L407L	TTC21A_ENST00000301819.6_Silent_p.L407L|TTC21A_ENST00000440121.1_Silent_p.L358L			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	407								p.L407L(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)		TCCACAGGTGCTAATTTTCCT	0.552											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L358L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1072T	3						.						47.0	48.0	47.0					3																	39166826		2025	4177	6202	39141830	SO:0001819	synonymous_variant	199223	exon10			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.1219C>T	3.37:g.39166826C>T		883	39141830	NM_001105513	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	CCDS46800.1																																																																																				0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
CX3CR1	1524	broad.mit.edu	37	3	39307973	39307973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:39307973C>A	ENST00000541347.1	-	2	267	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	CX3CR1_ENST00000542107.1_Nonsense_Mutation_p.E10*|CX3CR1_ENST00000399220.2_Nonsense_Mutation_p.E10*|CX3CR1_ENST00000358309.3_Nonsense_Mutation_p.E42*	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	10					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)	p.E10*(1)		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)		TCAAAGTTTTCTGTCACTGAT	0.428																																					p.E42X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G124T	3						.						61.0	60.0	60.0					3																	39307973		1916	4139	6055	39282977	SO:0001587	stop_gained	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.28G>T	3.37:g.39307973C>A	ENSP00000439140:p.Glu10*		39282977	NM_001171174	A0N0N6|B2R5Z4|J3KP17	Nonsense_Mutation	SNP	ENST00000541347.1	37	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926395	0.52759	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290;ENST00000412814	.	.	.	4.94	0.792	0.18625	.	1.078960	0.07271	N	0.869144	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	2.4074	0.04416	0.2584:0.3479:0.2962:0.0975	.	.	.	.	X	10;18;42;10;10;10;10	.	ENSP00000351059:E42X	E	-	1	0	CX3CR1	39282977	0.000000	0.05858	0.028000	0.17463	0.040000	0.13550	0.335000	0.19806	1.050000	0.40346	0.655000	0.94253	GAA		0.428	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
RPSA	3921	broad.mit.edu	37	3	39453541	39453541	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:39453541A>G	ENST00000301821.6	+	6	891	c.782A>G	c.(781-783)cAa>cGa	p.Q261R	RPSA_ENST00000478027.1_3'UTR|SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000443003.1_Missense_Mutation_p.Q266R	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA									p.Q261R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CCTATTCAGCAATTCCCTACT	0.448																																					p.Q261R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A782G	3						.						135.0	143.0	141.0					3																	39453541		2203	4300	6503	39428545	SO:0001583	missense	3921	exon6			S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"""laminin receptor 1 (67kD, ribosomal protein SA)"""	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.782A>G	3.37:g.39453541A>G	ENSP00000346067:p.Gln261Arg		39428545	NM_002295		Missense_Mutation	SNP	ENST00000301821.6	37	CCDS2686.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866769	0.51588	.	.	ENSG00000168028	ENST00000301821;ENST00000458478;ENST00000443003	T;T;T	0.45668	0.93;0.89;0.93	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000002	T	0.45895	0.1365	M	0.84846	2.72	0.46564	D	0.999103	B;B	0.10296	0.003;0.002	B;B	0.16722	0.016;0.008	T	0.43426	-0.9392	10	0.16896	T	0.51	.	12.1664	0.54133	1.0:0.0:0.0:0.0	.	261;261	C9J9K3;P08865	.;RSSA_HUMAN	R	261;261;266	ENSP00000346067:Q261R;ENSP00000410848:Q261R;ENSP00000389351:Q266R	ENSP00000346067:Q261R	Q	+	2	0	RPSA	39428545	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.651000	0.67951	1.811000	0.52892	0.460000	0.39030	CAA		0.448	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295	
ENTPD3	956	broad.mit.edu	37	3	40464345	40464345	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:40464345C>T	ENST00000301825.3	+	8	954	c.836C>T	c.(835-837)tCt>tTt	p.S279F	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.S279F|ENTPD3_ENST00000456402.1_Missense_Mutation_p.S279F|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	279					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.S279F(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CTACAGAATTCTCCTACCAAA	0.433																																					p.S279F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C836T	3						.						88.0	75.0	79.0					3																	40464345		2203	4300	6503	40439349	SO:0001583	missense	956	exon8			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.836C>T	3.37:g.40464345C>T	ENSP00000301825:p.Ser279Phe		40439349	NM_001248	B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361936	0.61403	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.12569	2.67;2.67;2.67	5.19	4.3	0.51218	.	0.360965	0.33005	N	0.005386	T	0.31765	0.0807	M	0.83384	2.64	0.23624	N	0.997267	P	0.48589	0.912	P	0.52957	0.714	T	0.17410	-1.0370	10	0.62326	D	0.03	-4.4478	13.1376	0.59417	0.1615:0.8385:0.0:0.0	.	279	O75355	ENTP3_HUMAN	F	279	ENSP00000301825:S279F;ENSP00000401565:S279F;ENSP00000404671:S279F	ENSP00000301825:S279F	S	+	2	0	ENTPD3	40439349	0.920000	0.31207	0.040000	0.18447	0.627000	0.37826	4.500000	0.60387	1.299000	0.44798	0.561000	0.74099	TCT		0.433	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248	
ZNF621	285268	broad.mit.edu	37	3	40574455	40574455	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:40574455T>G	ENST00000339296.5	+	5	1646	c.1194T>G	c.(1192-1194)ttT>ttG	p.F398L	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.F287L|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.F398L	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	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.F398L(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)		ctgggaattttttcatgctgc	0.493																																					p.F398L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1194G	3						.						76.0	63.0	67.0					3																	40574455		2149	4183	6332	40549459	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.1194T>G	3.37:g.40574455T>G	ENSP00000340841:p.Phe398Leu		40549459	NM_001098414	Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	N	8.360	0.832871	0.16820	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.07327	3.4;3.4;3.2	4.35	1.16	0.20824	.	0.291565	0.18541	N	0.138196	T	0.03520	0.0101	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39522	-0.9610	10	0.51188	T	0.08	.	7.9712	0.30127	0.0:0.2743:0.4459:0.2798	.	287;398	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	L	398;398;287	ENSP00000386051:F398L;ENSP00000340841:F398L;ENSP00000413236:F287L	ENSP00000340841:F398L	F	+	3	2	ZNF621	40549459	0.001000	0.12720	0.039000	0.18376	0.881000	0.50899	0.246000	0.18160	0.171000	0.19730	-0.127000	0.14921	TTT		0.493	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484	
ULK4	54986	broad.mit.edu	37	3	41973477	41973477	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:41973477T>G	ENST00000301831.4	-	5	862	c.400A>C	c.(400-402)Aca>Cca	p.T134P	ULK4_ENST00000420927.1_Missense_Mutation_p.T134P	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.T134P(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AACTTCAGTGTGCCAGGCCCT	0.368																																					p.T134P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A400C	3						.						88.0	81.0	83.0					3																	41973477		1820	4079	5899	41948481	SO:0001583	missense	54986	exon5			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.400A>C	3.37:g.41973477T>G	ENSP00000301831:p.Thr134Pro		41948481	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210886	0.79240	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.66460	-0.21;-0.21	5.94	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.193202	0.53938	D	0.000043	T	0.71091	0.3299	L	0.41236	1.265	0.80722	D	1	D;D	0.61697	0.978;0.99	D;D	0.65773	0.917;0.938	T	0.69946	-0.5007	10	0.40728	T	0.16	.	10.6068	0.45398	0.0:0.076:0.0:0.924	.	134;134	B4E2M4;Q96C45	.;ULK4_HUMAN	P	134	ENSP00000301831:T134P;ENSP00000412187:T134P	ENSP00000301831:T134P	T	-	1	0	ULK4	41948481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.301000	0.65727	2.276000	0.75962	0.455000	0.32223	ACA		0.368	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
TRAK1	22906	broad.mit.edu	37	3	42264461	42264461	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:42264461T>C	ENST00000327628.5	+	16	2494	c.2094T>C	c.(2092-2094)tgT>tgC	p.C698C	TRAK1_ENST00000396175.1_Silent_p.C640C|RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	698					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.C640C(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTCCAGCTTGTGGCAGCACCA	0.547																																					p.C698C	GBM(44;195 884 22595 31865 41850)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2094C	3						.						58.0	69.0	65.0					3																	42264461		2035	4184	6219	42239465	SO:0001819	synonymous_variant	22906	exon16				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2094T>C	3.37:g.42264461T>C			42239465	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	CCDS43072.1																																																																																				0.547	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
VIPR1	7433	broad.mit.edu	37	3	42576578	42576578	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:42576578C>T	ENST00000325123.4	+	11	1235	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	VIPR1_ENST00000438259.2_Silent_p.L164L|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000433647.1_Silent_p.L333L|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000543411.1_Silent_p.L326L	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	374					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.L374L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCTTTGAGCTCGTCGTGGGGT	0.502																																					p.L374L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1122T	3						.						175.0	166.0	169.0					3																	42576578		2203	4300	6503	42551582	SO:0001819	synonymous_variant	7433	exon11			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1122C>T	3.37:g.42576578C>T			42551582	NM_004624	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	CCDS2698.1																																																																																				0.502	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	
TCAIM	285343	broad.mit.edu	37	3	44399745	44399745	+	Intron	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:44399745T>G	ENST00000342649.4	+	3	592				TCAIM_ENST00000396078.3_Missense_Mutation_p.F68V|TCAIM_ENST00000383746.3_Missense_Mutation_p.F68V|TCAIM_ENST00000417237.1_Intron	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial							mitochondrion (GO:0005739)		p.F68V(1)									CCCTAGTGATTTTTCCTTATG	0.353																																					p.F68V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T202G	3						.						155.0	134.0	141.0					3																	44399745		1874	4094	5968	44374749	SO:0001627	intron_variant	285343	exon4				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.165+377T>G	3.37:g.44399745T>G			44374749	NM_001029840	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	T	9.364	1.068667	0.20147	.	.	ENSG00000179152	ENST00000383746;ENST00000396078	T;T	0.47869	0.83;0.83	1.98	0.791	0.18619	.	.	.	.	.	T	0.33933	0.0880	.	.	.	0.09310	N	0.999997	B	0.27997	0.197	B	0.27608	0.081	T	0.31081	-0.9956	8	0.72032	D	0.01	.	4.9805	0.14162	0.0:0.1645:0.0:0.8355	.	68	Q8N3R3-3	.	V	68	ENSP00000373252:F68V;ENSP00000379388:F68V	ENSP00000373252:F68V	F	+	1	0	C3orf23	44374749	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	-0.607000	0.05648	0.209000	0.20645	0.455000	0.32223	TTT		0.353	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826	
ZNF445	353274	broad.mit.edu	37	3	44489119	44489119	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:44489119G>T	ENST00000396077.2	-	8	2391	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	ZNF445_ENST00000425708.2_Missense_Mutation_p.L682M	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	682					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.L682M(2)		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)		TGCTGACACAGAAATGTTTTC	0.468																																					p.L682M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2044A	3						.						77.0	75.0	75.0					3																	44489119		2203	4300	6503	44464123	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.2044C>A	3.37:g.44489119G>T	ENSP00000379387:p.Leu682Met		44464123	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	5.740	0.320970	0.10845	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.61274	0.12;0.12	3.88	-7.76	0.01232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.326550	0.02051	N	0.050067	T	0.33352	0.0860	N	0.16656	0.425	0.09310	N	1	P;P	0.44309	0.728;0.832	B;B	0.39904	0.313;0.313	T	0.46247	-0.9205	10	0.59425	D	0.04	.	0.9001	0.01272	0.2844:0.2456:0.29:0.18	.	670;682	B7ZKX2;P59923	.;ZN445_HUMAN	M	682	ENSP00000413073:L682M;ENSP00000379387:L682M	ENSP00000379387:L682M	L	-	1	2	ZNF445	44464123	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-1.878000	0.01630	-1.789000	0.01264	-0.383000	0.06682	CTG		0.468	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
ZKSCAN7	55888	broad.mit.edu	37	3	44612119	44612119	+	Missense_Mutation	SNP	G	G	A	rs368452398		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:44612119G>A	ENST00000273320.3	+	6	1946	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q	RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R506Q|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	506					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.R506Q(1)									GCATTCATTCGAAGCAAAAGT	0.453																																					p.R506Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1517A	3						.	G	GLN/ARG,	0,4406		0,0,2203	136.0	136.0	136.0		1517,	2.4	0.0	3		136	1,8599		0,1,4299	no	missense,intron	ZNF167	NM_018651.2,NM_025169.1	43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	506/755,	44612119	1,13005	2203	4300	6503	44587123	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.1517G>A	3.37:g.44612119G>A	ENSP00000273320:p.Arg506Gln		44587123	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	9.716	1.158324	0.21454	0.0	1.16E-4	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.07567	3.18;3.18;3.18	4.27	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.292455	0.18772	N	0.131590	T	0.02193	0.0068	N	0.13272	0.32	0.09310	N	1	P;B	0.46512	0.879;0.058	B;B	0.29353	0.101;0.006	T	0.22103	-1.0226	10	0.05620	T	0.96	-0.241	1.712	0.02893	0.1716:0.173:0.4776:0.1777	.	376;506	A7MAY2;Q9P0L1	.;ZN167_HUMAN	Q	506;506;355	ENSP00000395524:R506Q;ENSP00000273320:R506Q;ENSP00000405034:R355Q	ENSP00000273320:R506Q	R	+	2	0	ZNF167	44587123	0.000000	0.05858	0.013000	0.15412	0.227000	0.25037	-1.292000	0.02772	0.983000	0.38602	0.655000	0.94253	CGA		0.453	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
ZNF501	115560	broad.mit.edu	37	3	44776003	44776003	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:44776003C>A	ENST00000396048.2	+	3	527	c.90C>A	c.(88-90)ttC>ttA	p.F30L		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	30					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.F30L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGGGAAGTTCTTTACTCAGA	0.423																																					p.F30L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C90A	3						.						103.0	108.0	106.0					3																	44776003		2158	4281	6439	44751007	SO:0001583	missense	115560	exon3			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.90C>A	3.37:g.44776003C>A	ENSP00000379363:p.Phe30Leu		44751007	NM_145044	B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771521	0.31320	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.00966	5.49	2.4	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	N	0.13235	0.315	0.25384	N	0.988587	B;B	0.16166	0.016;0.002	B;B	0.12156	0.007;0.002	T	0.47341	-0.9125	9	0.87932	D	0	.	6.299	0.21101	0.0:0.7042:0.0:0.2958	.	30;30	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	L	30	ENSP00000379363:F30L	ENSP00000330388:F30L	F	+	3	2	ZNF501	44751007	0.001000	0.12720	0.598000	0.28837	0.950000	0.60333	-0.238000	0.08977	0.468000	0.27243	0.563000	0.77884	TTC		0.423	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044	
LARS2	23395	broad.mit.edu	37	3	45436142	45436142	+	Missense_Mutation	SNP	G	G	A	rs149789249		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:45436142G>A	ENST00000415258.1	+	2	338	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	LARS2_ENST00000414984.1_Missense_Mutation_p.R66Q|LARS2_ENST00000265537.3_Missense_Mutation_p.R66Q			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	66					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R66Q(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGGCATCAACGAATAAAAGAA	0.448																																					p.R66Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197A	3						.	G	GLN/ARG	0,4406		0,0,2203	92.0	91.0	91.0		197	3.2	0.0	3	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARS2	NM_015340.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	66/904	45436142	1,13005	2203	4300	6503	45411146	SO:0001583	missense	23395	exon3			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.197G>A	3.37:g.45436142G>A	ENSP00000408576:p.Arg66Gln		45411146	NM_015340		Missense_Mutation	SNP	ENST00000415258.1	37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669209	0.67814	0.0	1.16E-4	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984;ENST00000431023;ENST00000430399	T;T;T;T	0.76448	-1.02;-1.02;1.86;1.96	5.04	3.22	0.36961	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.207650	0.38548	N	0.001648	T	0.67002	0.2847	L	0.54323	1.7	0.09310	N	0.999997	B;B	0.34290	0.272;0.447	B;B	0.26969	0.02;0.075	T	0.56655	-0.7943	10	0.38643	T	0.18	-9.3604	8.2016	0.31428	0.2472:0.0:0.7528:0.0	.	66;66	E9PHM2;Q15031	.;SYLM_HUMAN	Q	66	ENSP00000265537:R66Q;ENSP00000408576:R66Q;ENSP00000412893:R66Q;ENSP00000401388:R66Q	ENSP00000265537:R66Q	R	+	2	0	LARS2	45411146	0.095000	0.21747	0.008000	0.14137	0.951000	0.60555	1.326000	0.33735	0.600000	0.29862	0.655000	0.94253	CGA		0.448	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340	
SLC6A20	54716	broad.mit.edu	37	3	45817323	45817323	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:45817323G>A	ENST00000358525.4	-	4	627	c.512C>T	c.(511-513)gCg>gTg	p.A171V	SLC6A20_ENST00000456124.2_Missense_Mutation_p.A171V|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A171V	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	171					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A171V(2)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GAGGCACAGCGCCGGCTCCCA	0.627																																					p.A171V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C512T	3						.						130.0	117.0	121.0					3																	45817323		2203	4300	6503	45792327	SO:0001583	missense	54716	exon4			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.512C>T	3.37:g.45817323G>A	ENSP00000346298:p.Ala171Val		45792327	NM_022405	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280827	0.40394	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.57	3.78	0.43462	.	0.056972	0.64402	D	0.000001	T	0.73265	0.3565	N	0.21508	0.67	0.40612	D	0.981687	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66941	-0.5796	10	0.10377	T	0.69	.	11.4487	0.50138	0.068:0.126:0.806:0.0	.	171;171	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	V	171;171;171;124	ENSP00000296133:A171V;ENSP00000346298:A171V;ENSP00000404310:A171V;ENSP00000395506:A124V	ENSP00000296133:A171V	A	-	2	0	SLC6A20	45792327	1.000000	0.71417	0.812000	0.32479	0.973000	0.67179	4.563000	0.60823	0.701000	0.31803	0.563000	0.77884	GCG		0.627	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208	
CCR1	1230	broad.mit.edu	37	3	46244759	46244759	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:46244759T>C	ENST00000296140.3	-	2	1171	c.1046A>G	c.(1045-1047)cAt>cGt	p.H349R	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	349					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.H349R(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)		AGAGAGTTCATGCTCCCCTGT	0.597																																					p.H349R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1046G	3						.						52.0	50.0	51.0					3																	46244759		2203	4300	6503	46219763	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.1046A>G	3.37:g.46244759T>C	ENSP00000296140:p.His349Arg		46219763	NM_001295	Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106622	0.37145	.	.	ENSG00000163823	ENST00000296140	T	0.63744	-0.06	4.76	4.76	0.60689	.	0.390401	0.24630	N	0.036882	T	0.62684	0.2448	M	0.78637	2.42	0.29956	N	0.819791	B	0.33022	0.394	B	0.30401	0.115	T	0.68191	-0.5474	10	0.59425	D	0.04	.	13.2892	0.60262	0.0:0.0:0.0:1.0	.	349	P32246	CCR1_HUMAN	R	349	ENSP00000296140:H349R	ENSP00000296140:H349R	H	-	2	0	CCR1	46219763	0.997000	0.39634	0.849000	0.33467	0.748000	0.42578	3.636000	0.54317	2.131000	0.65755	0.448000	0.29417	CAT		0.597	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295	
SETD2	29072	broad.mit.edu	37	3	47061267	47061267	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:47061267C>T	ENST00000409792.3	-	19	7456	c.7414G>A	c.(7414-7416)Gaa>Aaa	p.E2472K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2472	Interaction with POLR2A.				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.E2472K(1)|p.E1969K(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)		CTGAATACTTCTTTGCTTTTC	0.423			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.E2472K			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7414A	3						.						292.0	257.0	269.0					3																	47061267		2203	4300	6503	47036271	SO:0001583	missense	29072	exon19			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.7414G>A	3.37:g.47061267C>T	ENSP00000386759:p.Glu2472Lys		47036271	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	35	5.578446	0.96565	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.90197	-2.63	5.65	5.65	0.86999	SRI, Set2 Rpb1 interacting (1);	0.000000	0.64402	D	0.000010	D	0.95092	0.8410	M	0.71036	2.16	0.80722	D	1	D;D	0.71674	0.988;0.998	D;D	0.77557	0.942;0.99	D	0.94636	0.7826	10	0.62326	D	0.03	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	2472;2472	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	2472	ENSP00000386759:E2472K	ENSP00000386759:E2472K	E	-	1	0	SETD2	47036271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.489000	0.81451	2.941000	0.99782	0.655000	0.94253	GAA		0.423	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
SETD2	29072	broad.mit.edu	37	3	47155437	47155437	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:47155437C>T	ENST00000409792.3	-	5	4686	c.4644G>A	c.(4642-4644)caG>caA	p.Q1548Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1548	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.Q1045Q(1)|p.Q1548Q(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)		CATCTGCATGCTGTTTTCTCT	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.Q1548Q			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4644A	3						.						144.0	143.0	143.0					3																	47155437		2203	4300	6503	47130441	SO:0001819	synonymous_variant	29072	exon5			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.4644G>A	3.37:g.47155437C>T			47130441	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
KIF9	64147	broad.mit.edu	37	3	47278068	47278068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:47278068C>A	ENST00000265529.3	-	19	2646	c.1966G>T	c.(1966-1968)Gaa>Taa	p.E656*	KIF9_ENST00000487440.1_5'Flank|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000335044.2_Nonsense_Mutation_p.E656*|KIF9_ENST00000352910.4_Nonsense_Mutation_p.E498*|KIF9_ENST00000452770.2_Nonsense_Mutation_p.E656*|KIF9_ENST00000444589.2_Nonsense_Mutation_p.E591*			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	656					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.E656*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGCAGGAATTCTTCCTCATCG	0.522																																					p.E656X	Colon(44;962 1147 15977 24541)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1966T	3						.						161.0	128.0	139.0					3																	47278068		2203	4300	6503	47253072	SO:0001587	stop_gained	64147	exon18			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1966G>T	3.37:g.47278068C>A	ENSP00000265529:p.Glu656*		47253072	NM_182902	Q86Z28|Q9H8A4	Nonsense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	C	44	10.870864	0.99481	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	.	.	.	5.8	5.8	0.92144	.	0.119952	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5546	0.87887	0.0:1.0:0.0:0.0	.	.	.	.	X	656;656;591;656;498	.	ENSP00000265529:E656X	E	-	1	0	KIF9	47253072	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.044000	0.71012	2.750000	0.94351	0.655000	0.94253	GAA		0.522	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
KIF9	64147	broad.mit.edu	37	3	47282433	47282433	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:47282433T>C	ENST00000265529.3	-	18	2462	c.1782A>G	c.(1780-1782)cgA>cgG	p.R594R	KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000335044.2_Silent_p.R594R|KIF9_ENST00000352910.4_Silent_p.R436R|KIF9_ENST00000452770.2_Silent_p.R594R|KIF9_ENST00000444589.2_Silent_p.R529R			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	594					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.R594R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTTTGAAAATTCGGTTGATCT	0.478																																					p.R594R	Colon(44;962 1147 15977 24541)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1782G	3						.						143.0	134.0	137.0					3																	47282433		2203	4300	6503	47257437	SO:0001819	synonymous_variant	64147	exon17			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1782A>G	3.37:g.47282433T>C			47257437	NM_182902	Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	CCDS2752.1																																																																																				0.478	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
KIF9	64147	broad.mit.edu	37	3	47308716	47308716	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:47308716T>C	ENST00000265529.3	-	7	1309	c.629A>G	c.(628-630)aAc>aGc	p.N210S	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Missense_Mutation_p.N210S|KIF9_ENST00000352910.4_Missense_Mutation_p.N117S|KIF9_ENST00000452770.2_Missense_Mutation_p.N210S|KIF9_ENST00000444589.2_Missense_Mutation_p.N210S			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	210	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.N210S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAGTTTTTGTTCATAGTGTG	0.483																																					p.N210S	Colon(44;962 1147 15977 24541)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A629G	3						.						286.0	287.0	287.0					3																	47308716		2203	4300	6503	47283720	SO:0001583	missense	64147	exon6			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.629A>G	3.37:g.47308716T>C	ENSP00000265529:p.Asn210Ser		47283720	NM_182902	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064091	0.55432	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910;ENST00000456548	D;D;D;D;D;T	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;1.72	5.93	5.93	0.95920	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.93232	0.7844	M	0.94101	3.495	0.54753	D	0.999981	D;D	0.76494	0.997;0.999	D;D	0.78314	0.95;0.991	D	0.94737	0.7915	10	0.87932	D	0	.	15.2111	0.73225	0.0:0.0:0.0:1.0	.	210;210	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	S	210;210;210;210;117;135	ENSP00000333942:N210S;ENSP00000265529:N210S;ENSP00000414987:N210S;ENSP00000391100:N210S;ENSP00000292334:N117S;ENSP00000387959:N135S	ENSP00000265529:N210S	N	-	2	0	KIF9	47283720	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.109000	0.77062	2.265000	0.75225	0.533000	0.62120	AAC		0.483	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
SCAP	22937	broad.mit.edu	37	3	47467022	47467022	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:47467022A>C	ENST00000265565.5	-	8	1402	c.990T>G	c.(988-990)tcT>tcG	p.S330S	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Silent_p.S75S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	330	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)	p.S330S(1)		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)		AGAGTCCCACAGACATGAGCA	0.647																																					p.S330S	Pancreas(149;978 1908 29304 37806 46700)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T990G	3						.						86.0	81.0	83.0					3																	47467022		2203	4300	6503	47442026	SO:0001819	synonymous_variant	22937	exon8			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.990T>G	3.37:g.47467022A>C			47442026	NM_012235	Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	CCDS2755.2																																																																																				0.647	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
SMARCC1	6599	broad.mit.edu	37	3	47755916	47755916	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:47755916T>G	ENST00000254480.5	-	8	900	c.781A>C	c.(781-783)Aaa>Caa	p.K261Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	261					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.K261Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCCATGGTTTTTCTGGAATT	0.333																																					p.K261Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A781C	3						.						81.0	83.0	82.0					3																	47755916		2202	4300	6502	47730920	SO:0001583	missense	6599	exon8			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.781A>C	3.37:g.47755916T>G	ENSP00000254480:p.Lys261Gln		47730920	NM_003074	Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232824	0.79688	.	.	ENSG00000173473	ENST00000254480	T	0.59224	0.28	5.6	5.6	0.85130	BRCT (1);Chromo domain/shadow (1);	0.130282	0.64402	D	0.000001	T	0.62380	0.2423	L	0.52573	1.65	0.46061	D	0.99884	P	0.48640	0.913	P	0.50352	0.638	T	0.64339	-0.6431	10	0.52906	T	0.07	-14.2894	14.9478	0.71047	0.0:0.0:0.0:1.0	.	261	Q92922	SMRC1_HUMAN	Q	261	ENSP00000254480:K261Q	ENSP00000254480:K261Q	K	-	1	0	SMARCC1	47730920	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.854000	0.69503	2.267000	0.75376	0.477000	0.44152	AAA		0.333	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		
FBXW12	285231	broad.mit.edu	37	3	48423200	48423200	+	Silent	SNP	C	C	T	rs546207852		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:48423200C>T	ENST00000296438.5	+	9	1182	c.996C>T	c.(994-996)atC>atT	p.I332I	FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000415155.1_Silent_p.I262I|FBXW12_ENST00000436231.1_Silent_p.I175I|FBXW12_ENST00000445170.1_Silent_p.I313I|RN7SL321P_ENST00000581742.1_RNA	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	332								p.I332I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATATGAGATCGCAAGTTTCC	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23365	0.0		0.0	False		,,,				2504	0.0				p.I332I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996T	3						.						124.0	110.0	115.0					3																	48423200		2203	4300	6503	48398204	SO:0001819	synonymous_variant	285231	exon9			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.996C>T	3.37:g.48423200C>T			48398204	NM_207102	E9PG36|Q494Y9|Q494Z0	Silent	SNP	ENST00000296438.5	37	CCDS2764.1																																																																																				0.393	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102	
PFKFB4	5210	broad.mit.edu	37	3	48587594	48587594	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:48587594C>A	ENST00000232375.3	-	2	283	c.171G>T	c.(169-171)aaG>aaT	p.K57N	PFKFB4_ENST00000383734.2_Missense_Mutation_p.K57N|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.K46N|PFKFB4_ENST00000545984.1_Missense_Mutation_p.K57N|PFKFB4_ENST00000541519.1_Missense_Mutation_p.K23N|PFKFB4_ENST00000416568.1_Missense_Mutation_p.K57N	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	57	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.K57N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAGTCAGCTTCTTGGAGATGT	0.557																																					p.K57N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171T	3						.						143.0	114.0	124.0					3																	48587594		2203	4300	6503	48562598	SO:0001583	missense	5210	exon2			BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.171G>T	3.37:g.48587594C>A	ENSP00000232375:p.Lys57Asn		48562598	NM_004567	Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068299	0.55539	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.89	4.01	0.46588	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.75860	0.3907	M	0.72479	2.2	0.80722	D	1	B;D;D;P	0.89917	0.448;0.999;1.0;0.588	B;D;D;B	0.85130	0.426;0.996;0.997;0.325	T	0.78043	-0.2358	9	0.87932	D	0	-1.9805	11.0677	0.47985	0.0:0.9096:0.0:0.0904	.	46;57;57;57	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	N	57;46;57;57;23;57;46;23;60	.	ENSP00000232375:K57N	K	-	3	2	PFKFB4	48562598	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.203000	0.32284	1.277000	0.44412	0.655000	0.94253	AAG		0.557	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567	
CELSR3	1951	broad.mit.edu	37	3	48696998	48696998	+	Missense_Mutation	SNP	G	G	A	rs561081554		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:48696998G>A	ENST00000164024.4	-	1	3350	c.3070C>T	c.(3070-3072)Cgg>Tgg	p.R1024W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1024W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1024	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1024W(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGTCTAGCCGCCTTACTGTA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		21896	0.0		0.0	False		,,,				2504	0.001				p.R1024W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3070T	3						.						86.0	82.0	83.0					3																	48696998		2203	4300	6503	48672002	SO:0001583	missense	1951	exon1			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3070C>T	3.37:g.48696998G>A	ENSP00000164024:p.Arg1024Trp		48672002	NM_001407	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460497	0.43736	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01804	4.63;4.63	5.78	4.88	0.63580	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.07683	0.0193	L	0.55213	1.73	0.50813	D	0.999892	P;D	0.89917	0.955;1.0	P;D	0.83275	0.658;0.996	T	0.05241	-1.0897	9	0.72032	D	0.01	.	12.9758	0.58537	0.0:0.0:0.5565:0.4435	.	1024;1094	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	W	1024	ENSP00000164024:R1024W;ENSP00000445694:R1024W	ENSP00000164024:R1024W	R	-	1	2	CELSR3	48672002	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.199000	0.32235	1.404000	0.46819	0.561000	0.74099	CGG		0.542	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
DALRD3	55152	broad.mit.edu	37	3	49053080	49053080	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:49053080G>A	ENST00000341949.4	-	12	1579	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	DALRD3_ENST00000440857.1_Missense_Mutation_p.A386V|DALRD3_ENST00000441576.2_Missense_Mutation_p.A516V|WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000313778.5_Missense_Mutation_p.R358C|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000395462.4_Missense_Mutation_p.R358C|WDR6_ENST00000608424.1_3'UTR	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	525					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)	p.R358C(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCACCTCACGCACAGCTCTC	0.557																																					p.R358C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1072T	3						.						84.0	85.0	84.0					3																	49053080		2203	4300	6503	49028084	SO:0001583	missense	55152	exon12			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1573C>T	3.37:g.49053080G>A	ENSP00000344989:p.Arg525Cys		49028084	NM_018114	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	CCDS33754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.022269|3.022269	0.54683|0.54683	.|.	.|.	ENSG00000178149|ENSG00000178149	ENST00000438585;ENST00000441576;ENST00000440857|ENST00000341949;ENST00000395462;ENST00000313778	T;T|T;T;T	0.51817|0.79141	0.77;0.69|-1.24;-1.24;-1.24	5.55|5.55	3.66|3.66	0.41972|0.41972	.|Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);	.|0.116287	.|0.56097	.|D	.|0.000031	D|D	0.84795|0.84795	0.5551|0.5551	M|M	0.78916|0.78916	2.43|2.43	0.31613|0.31613	N|N	0.651254|0.651254	B;B|D	0.25007|0.76494	0.116;0.116|0.999	B;B|D	0.16722|0.65323	0.016;0.016|0.934	D|D	0.85163|0.85163	0.0993|0.0993	8|10	.|0.59425	.|D	.|0.04	-3.5048|-3.5048	8.9051|8.9051	0.35519|0.35519	0.0802:0.0:0.7019:0.2178|0.0802:0.0:0.7019:0.2178	.|.	386;516|525	C9JJG6;Q5D0E6-2|Q5D0E6	.;.|DALD3_HUMAN	V|C	166;516;386|525;358;358	ENSP00000410623:A516V;ENSP00000403770:A386V|ENSP00000344989:R525C;ENSP00000378846:R358C;ENSP00000323265:R358C	.|ENSP00000323265:R358C	A|R	-|-	2|1	0|0	DALRD3|DALRD3	49028084|49028084	0.032000|0.032000	0.19561|0.19561	0.128000|0.128000	0.21923|0.21923	0.980000|0.980000	0.70556|0.70556	1.686000|1.686000	0.37669|0.37669	1.358000|1.358000	0.45922|0.45922	0.556000|0.556000	0.70494|0.70494	GCG|CGT		0.557	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114	
QARS	5859	broad.mit.edu	37	3	49133499	49133499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:49133499C>T	ENST00000306125.6	-	24	2628	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	QRICH1_ENST00000424300.1_5'Flank|QRICH1_ENST00000357496.2_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.R753Q|QRICH1_ENST00000395443.2_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	764					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.R764Q(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)	TGTGACAGTTCGGTTAAAGAC	0.567																																					p.R764Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2291A	3						.						96.0	76.0	83.0					3																	49133499		2203	4300	6503	49108503	SO:0001583	missense	5859	exon24			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.2291G>A	3.37:g.49133499C>T	ENSP00000307567:p.Arg764Gln		49108503	NM_005051	B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378586	0.82682	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.32988	1.43;1.44	5.85	3.95	0.45737	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);	0.108004	0.64402	N	0.000013	T	0.29817	0.0745	M	0.75447	2.3	0.80722	D	1	P;P	0.49783	0.928;0.928	B;B	0.37198	0.243;0.243	T	0.25882	-1.0119	10	0.62326	D	0.03	-8.4735	9.6143	0.39681	0.1419:0.7831:0.0:0.075	.	753;764	B4DWJ2;P47897	.;SYQ_HUMAN	Q	242;764;753	ENSP00000307567:R764Q;ENSP00000390015:R753Q	ENSP00000307567:R764Q	R	-	2	0	QARS	49108503	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	4.297000	0.59061	1.469000	0.48083	0.650000	0.86243	CGA		0.567	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	
USP19	10869	broad.mit.edu	37	3	49154016	49154016	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:49154016G>A	ENST00000398888.2	-	7	1166	c.848C>T	c.(847-849)gCg>gTg	p.A283V	USP19_ENST00000398892.3_Missense_Mutation_p.A321V|USP19_ENST00000417901.1_Missense_Mutation_p.A384V|USP19_ENST00000453664.1_Missense_Mutation_p.A374V|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Missense_Mutation_p.A384V|USP19_ENST00000398898.2_Missense_Mutation_p.A321V|USP19_ENST00000398896.1_Missense_Mutation_p.A89V	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	283	CS 2. {ECO:0000255|PROSITE- ProRule:PRU00547}.				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.A369V(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)		CTTGACAAACGCCAGGTTCAC	0.517																																					p.A374V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1121T	3						.						98.0	98.0	98.0					3																	49154016		2076	4219	6295	49129020	SO:0001583	missense	10869	exon8			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.848C>T	3.37:g.49154016G>A	ENSP00000381863:p.Ala283Val		49129020	NM_001199162	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447263	0.63178	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.32272	2.1;2.1;2.2;2.2;2.1;2.21;2.2;1.46	6.17	6.17	0.99709	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.297058	0.38217	N	0.001770	T	0.26122	0.0637	L	0.36672	1.1	0.38836	D	0.955965	B;P;B;P;P;P;B	0.47350	0.403;0.546;0.403;0.553;0.834;0.894;0.355	B;B;B;B;B;B;B	0.34093	0.148;0.148;0.148;0.109;0.175;0.091;0.101	T	0.07770	-1.0755	10	0.52906	T	0.07	-6.5114	20.4745	0.99168	0.0:0.0:1.0:0.0	.	447;384;374;283;321;369;89	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	V	89;321;384;374;321;283;384;369;369	ENSP00000381870:A89V;ENSP00000381872:A321V;ENSP00000395260:A384V;ENSP00000400090:A374V;ENSP00000381867:A321V;ENSP00000381863:A283V;ENSP00000401197:A384V;ENSP00000303503:A369V	ENSP00000303503:A369V	A	-	2	0	USP19	49129020	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.783000	0.55409	2.941000	0.99782	0.655000	0.94253	GCG		0.517	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
DAG1	1605	broad.mit.edu	37	3	49548193	49548193	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:49548193C>T	ENST00000539901.1	+	2	784	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	DAG1_ENST00000538711.1_Missense_Mutation_p.R76C|DAG1_ENST00000541308.1_Missense_Mutation_p.R76C|DAG1_ENST00000515359.2_Missense_Mutation_p.R76C|DAG1_ENST00000545947.1_Missense_Mutation_p.R76C|DAG1_ENST00000479935.1_3'UTR|DAG1_ENST00000308775.2_Missense_Mutation_p.R76C	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	76	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.R76C(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTCGTCGGGCGCTCATTTCG	0.502																																					p.R76C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C226T	3						.						49.0	43.0	45.0					3																	49548193		2203	4300	6503	49523197	SO:0001583	missense	1605	exon2			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.226C>T	3.37:g.49548193C>T	ENSP00000439334:p.Arg76Cys		49523197	NM_004393	A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346438	0.82022	.	.	ENSG00000173402	ENST00000515359;ENST00000421560;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000418588;ENST00000431960;ENST00000452060;ENST00000428779	D;D;D;D;D;D;D;T;D;T;T	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;0.16;-5.01;0.14;0.22	5.44	5.44	0.79542	Dystroglycan-type cadherin-like (1);Cadherin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95758	0.8620	L	0.59436	1.845	0.80722	D	1	D	0.57257	0.979	B	0.33339	0.162	D	0.95751	0.8792	10	0.87932	D	0	-17.7903	13.0729	0.59072	0.1608:0.8391:0.0:0.0	.	76	Q14118	DAG1_HUMAN	C	76	ENSP00000440705:R76C;ENSP00000412067:R76C;ENSP00000312435:R76C;ENSP00000442600:R76C;ENSP00000440590:R76C;ENSP00000439334:R76C;ENSP00000438421:R76C;ENSP00000405859:R76C;ENSP00000388833:R76C;ENSP00000410145:R76C;ENSP00000401382:R76C	ENSP00000312435:R76C	R	+	1	0	DAG1	49523197	0.986000	0.35501	0.997000	0.53966	0.922000	0.55478	2.664000	0.46783	2.530000	0.85305	0.557000	0.71058	CGC		0.502	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
DOCK3	1795	broad.mit.edu	37	3	51370620	51370620	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	
DOCK3	1795	broad.mit.edu	37	3	51413217	51413217	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:51413217C>T	ENST00000266037.9	+	51	5474	c.5451C>T	c.(5449-5451)gtC>gtT	p.V1817V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1817					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1817V(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)		AGCAAGTGGTCGGAGCCTGCA	0.517																																					p.R1804W												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5410T	3						.						125.0	139.0	134.0					3																	51413217		2059	4177	6236	51388257	SO:0001819	synonymous_variant	1795	exon51			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.5451C>T	3.37:g.51413217C>T			51388257	NM_004947	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.517	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
VPRBP	9730	broad.mit.edu	37	3	51451487	51451487	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:51451487C>T	ENST00000335891.5	-	12	2510	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1283					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.R1287Q(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATGAAAAGTTCGAAGGTCCCA	0.408																																					p.R1229Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3686A	3						.						57.0	57.0	57.0					3																	51451487		1876	4107	5983	51426527	SO:0001583	missense	9730	exon18			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2501G>A	3.37:g.51451487C>T	ENSP00000338857:p.Arg834Gln		51426527	NM_001171904	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	C	36	5.768411	0.96914	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.01474	4.85;4.85	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	M	0.87038	2.855	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.00135	-1.2007	10	0.87932	D	0	-9.0478	19.7654	0.96337	0.0:1.0:0.0:0.0	.	1283	Q9Y4B6	VPRBP_HUMAN	Q	854;834	ENSP00000393183:R854Q;ENSP00000338857:R834Q	ENSP00000338857:R834Q	R	-	2	0	VPRBP	51426527	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.487000	0.81328	2.679000	0.91253	0.655000	0.94253	CGA		0.408	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
RAD54L2	23132	broad.mit.edu	37	3	51664927	51664927	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:51664927C>T	ENST00000409535.2	+	6	930	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	269						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.R269W(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ACAGTTGGCACGGGCTGTGAA	0.493																																					p.R269W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C805T	3						.						90.0	80.0	83.0					3																	51664927		2203	4300	6503	51639967	SO:0001583	missense	23132	exon6			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.805C>T	3.37:g.51664927C>T	ENSP00000386520:p.Arg269Trp		51639967	NM_015106	Q8TB57|Q9BV54	De_novo_Start_OutOfFrame	SNP	ENST00000409535.2	37	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.146743|4.146743	0.77888|0.77888	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535|ENST00000432863	D|.	0.93488|.	-3.23|.	6.03|6.03	3.06|3.06	0.35304|0.35304	DEAD-like helicase (1);|.	0.104678|.	0.64402|.	D|.	0.000011|.	T|T	0.69904|0.69904	0.3163|0.3163	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.64687|.	0.928|.	T|T	0.69304|0.69304	-0.5180|-0.5180	10|5	0.72032|.	D|.	0.01|.	-6.1605|-6.1605	13.8978|13.8978	0.63783|0.63783	0.5197:0.4803:0.0:0.0|0.5197:0.4803:0.0:0.0	.|.	269|.	Q9Y4B4|.	ARIP4_HUMAN|.	W|M	269|97	ENSP00000386520:R269W|.	ENSP00000386520:R269W|.	R|T	+|+	1|2	2|0	RAD54L2|RAD54L2	51639967|51639967	0.811000|0.811000	0.29063|0.29063	0.997000|0.997000	0.53966|0.53966	0.967000|0.967000	0.64934|0.64934	1.300000|1.300000	0.33436|0.33436	0.836000|0.836000	0.34901|0.34901	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.493	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106	
DNAH1	25981	broad.mit.edu	37	3	52383341	52383341	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:52383341G>A	ENST00000420323.2	+	14	2692	c.2431G>A	c.(2431-2433)Gac>Aac	p.D811N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	811	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D811N(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)		CATCAACACCGACAATGTCAA	0.572																																					p.D811N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2431A	3						.						85.0	92.0	90.0					3																	52383341		2128	4241	6369	52358381	SO:0001583	missense	25981	exon14			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.2431G>A	3.37:g.52383341G>A	ENSP00000401514:p.Asp811Asn		52358381	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	9.389	1.075133	0.20227	.	.	ENSG00000114841	ENST00000420323	T	0.22743	1.94	5.54	3.69	0.42338	.	0.377447	0.22495	N	0.059318	T	0.17704	0.0425	L	0.43152	1.355	0.36900	D	0.890342	B;B	0.12013	0.002;0.005	B;B	0.12837	0.001;0.008	T	0.09079	-1.0691	10	0.23891	T	0.37	.	11.0255	0.47743	0.157:0.0:0.843:0.0	.	811;811	C9JXH6;Q9P2D7-3	.;.	N	811	ENSP00000401514:D811N	ENSP00000401514:D811N	D	+	1	0	DNAH1	52358381	1.000000	0.71417	0.143000	0.22291	0.155000	0.21991	3.902000	0.56310	0.653000	0.30826	0.655000	0.94253	GAC		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DNAH1	25981	broad.mit.edu	37	3	52407030	52407030	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:52407030T>C	ENST00000420323.2	+	44	7207	c.6946T>C	c.(6946-6948)Tgg>Cgg	p.W2316R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2316	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W2316R(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)		GTTGCGCCAGTGGATGGACCA	0.622																																					p.W2316R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6946C	3						.						50.0	56.0	54.0					3																	52407030		2074	4202	6276	52382070	SO:0001583	missense	25981	exon44			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.6946T>C	3.37:g.52407030T>C	ENSP00000401514:p.Trp2316Arg		52382070	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721718	0.89298	.	.	ENSG00000114841	ENST00000420323	T	0.33865	1.39	4.5	4.5	0.54988	.	0.000000	0.46442	D	0.000294	T	0.71617	0.3361	H	0.96633	3.855	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.82232	-0.0559	10	0.72032	D	0.01	.	14.2564	0.66055	0.0:0.0:0.0:1.0	.	2316	C9JXH6	.	R	2316	ENSP00000401514:W2316R	ENSP00000401514:W2316R	W	+	1	0	DNAH1	52382070	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.806000	0.86020	2.023000	0.59567	0.533000	0.62120	TGG		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
PBRM1	55193	broad.mit.edu	37	3	52678727	52678727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:52678727G>A	ENST00000296302.7	-	8	893	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R298*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R298*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R298*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R298*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R298*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R298*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R298*			Q86U86	PB1_HUMAN	polybromo 1	298					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.R298*(4)		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)		TACCTCATTCGAAGACTTGAC	0.403			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.R298X			Rec	yes		3	3p21	55193	polybromo 1		E	.	.	4	Substitution - Nonsense(4)	kidney(3)|large_intestine(1)	c.C892T	3						.						107.0	92.0	97.0					3																	52678727		2202	4298	6500	52653767	SO:0001587	stop_gained	55193	exon9			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.892C>T	3.37:g.52678727G>A	ENSP00000296302:p.Arg298*		52653767	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.972416	0.97162	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	3.83	0.44106	.	0.070958	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2236	13.0712	0.59061	0.0:0.0:0.6763:0.3237	.	.	.	.	X	298;298;298;298;298;298;298;298;298;242	.	ENSP00000296302:R298X	R	-	1	2	PBRM1	52653767	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.977000	0.70492	0.694000	0.31654	-0.311000	0.09066	CGA		0.403	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
GNL3	26354	broad.mit.edu	37	3	52720829	52720829	+	Missense_Mutation	SNP	A	A	C	rs539407344		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:52720829A>C	ENST00000418458.1	+	2	231	c.58A>C	c.(58-60)Aaa>Caa	p.K20Q	GNL3_ENST00000460073.1_Intron|SNORD19_ENST00000391191.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.K8Q|SNORD19B_ENST00000516978.1_RNA|PBRM1_ENST00000394830.3_5'Flank	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	20	Basic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K20Q(1)		breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TAAGCGGTATAAAATCCAAAA	0.393																																					p.K8Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A22C	3						.						92.0	87.0	89.0					3																	52720829		2203	4300	6503	52695869	SO:0001583	missense	26354	exon2			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.58A>C	3.37:g.52720829A>C	ENSP00000395772:p.Lys20Gln		52695869	NM_206825	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	ENST00000418458.1	37	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.969041	0.92855	.	.	ENSG00000163938	ENST00000479230;ENST00000418458;ENST00000394799;ENST00000474423	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.83	5.83	0.93111	GNL3L/Grn1 putative GTPase (1);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86553	0.1836	10	0.87932	D	0	.	14.4266	0.67220	1.0:0.0:0.0:0.0	.	20	Q9BVP2	GNL3_HUMAN	Q	8;20;8;8	ENSP00000419734:K8Q;ENSP00000395772:K20Q;ENSP00000378278:K8Q;ENSP00000419895:K8Q	ENSP00000378278:K8Q	K	+	1	0	GNL3	52695869	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.093000	0.89531	2.225000	0.72522	0.533000	0.62120	AAA		0.393	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366	
GLT8D1	55830	broad.mit.edu	37	3	52728998	52728998	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:52728998G>A	ENST00000407584.3	-	11	1829	c.979C>T	c.(979-981)Ctc>Ttc	p.L327F	SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000478968.2_Missense_Mutation_p.L327F|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000266014.5_Missense_Mutation_p.L327F|GLT8D1_ENST00000491606.1_Missense_Mutation_p.L327F|GLT8D1_ENST00000394783.3_Missense_Mutation_p.L327F	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	327						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L327F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTCCAATGGAGTAACTTGGCA	0.418																																					p.L327F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C979T	3						.						134.0	123.0	126.0					3																	52728998		2203	4300	6503	52704038	SO:0001583	missense	55830	exon11			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.979C>T	3.37:g.52728998G>A	ENSP00000385730:p.Leu327Phe		52704038	NM_001010983	Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	ENST00000407584.3	37	CCDS2862.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.553914|4.553914	0.86231|0.86231	.|.	.|.	ENSG00000016864|ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606|ENST00000394786	T;T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68;0.68|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81029|0.81029	0.4738|0.4738	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.75020|.	0.985|.	T|T	0.76138|0.76138	-0.3069|-0.3069	10|6	0.87932|0.25751	D|T	0|0.34	-14.6844|-14.6844	20.3473|20.3473	0.98799|0.98799	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	327|.	Q68CQ7|.	GL8D1_HUMAN|.	F|I	327|157	ENSP00000419612:L327F;ENSP00000378263:L327F;ENSP00000385730:L327F;ENSP00000266014:L327F;ENSP00000418853:L327F|.	ENSP00000266014:L327F|ENSP00000378266:T157I	L|T	-|-	1|2	0|0	GLT8D1|GLT8D1	52704038|52704038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	9.813000|9.813000	0.99286|0.99286	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CTC|ACT		0.418	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352065.3	NM_152932	
MUSTN1	389125	broad.mit.edu	37	3	52867385	52867385	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:52867385G>T	ENST00000446157.2	-	3	474	c.204C>A	c.(202-204)gtC>gtA	p.V68V	MUSTN1_ENST00000486659.1_Silent_p.V73V|RP5-966M1.6_ENST00000468472.1_Intron|ITIH4_ENST00000266041.4_5'Flank|ITIH4_ENST00000346281.5_5'Flank|ITIH4_ENST00000485816.1_5'Flank|ITIH4_ENST00000434759.3_5'Flank|RP5-966M1.6_ENST00000513520.1_Intron|TMEM110-MUSTN1_ENST00000504329.1_Silent_p.V358V|ITIH4_ENST00000406595.1_5'Flank	NM_205853.3	NP_995325	Q8IVN3	MSTN1_HUMAN	musculoskeletal, embryonic nuclear protein 1	68						nucleus (GO:0005634)		p.V68V(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.56e-05)|Kidney(197;0.000586)|KIRC - Kidney renal clear cell carcinoma(197;0.000755)|OV - Ovarian serous cystadenocarcinoma(275;0.0471)		GCTTCTCAAAGACAGTCTCGG	0.627																																					p.V358V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1074A	3						.						63.0	69.0	67.0					3																	52867385		1997	4153	6150	52842425	SO:0001819	synonymous_variant	375346	exon10				CCDS46846.1	3p21.31	2004-03-10				ENSG00000272573			22144	protein-coding gene	gene with protein product							Standard	NM_205853		Approved	Mustang		Q8IVN3		ENST00000446157.2:c.204C>A	3.37:g.52867385G>T			52842425	NM_001198974		Silent	SNP	ENST00000446157.2	37	CCDS46846.1																																																																																				0.627	MUSTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352933.2	XM_371644	
PRKCD	5580	broad.mit.edu	37	3	53217202	53217202	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:53217202G>A	ENST00000394729.2	+	7	965	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	PRKCD_ENST00000330452.3_Missense_Mutation_p.A213T	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	213					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|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)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.A213T(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	TGGCACCGCGGCCAACAGCCG	0.617																																					p.A213T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G637A	3						.						36.0	37.0	37.0					3																	53217202		2203	4300	6503	53192242	SO:0001583	missense	5580	exon8				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.637G>A	3.37:g.53217202G>A	ENSP00000378217:p.Ala213Thr		53192242	NM_006254	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	G	1.470	-0.560149	0.03967	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.69685	-0.42;-0.42	5.21	1.4	0.22301	.	0.245864	0.48286	N	0.000182	T	0.27134	0.0665	N	0.00583	-1.355	0.30015	N	0.814842	B	0.02656	0.0	B	0.01281	0.0	T	0.27226	-1.0080	10	0.13853	T	0.58	.	8.3202	0.32124	0.3505:0.0:0.6495:0.0	.	213	Q05655	KPCD_HUMAN	T	213	ENSP00000378217:A213T;ENSP00000331602:A213T	ENSP00000331602:A213T	A	+	1	0	PRKCD	53192242	0.952000	0.32445	0.077000	0.20336	0.001000	0.01503	1.577000	0.36515	-0.035000	0.13691	-0.251000	0.11542	GCC		0.617	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1		
CACNA1D	776	broad.mit.edu	37	3	53785874	53785874	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:53785874G>A	ENST00000350061.5	+	28	4126	c.3615G>A	c.(3613-3615)tcG>tcA	p.S1205S	CACNA1D_ENST00000540742.1_Silent_p.S112S|CACNA1D_ENST00000422281.2_Silent_p.S1205S|CACNA1D_ENST00000288139.4_Silent_p.S1225S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1205					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)	p.S1225S(1)		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)	TGAACTCTTCGCCTTTCGAAT	0.502																																					p.S1205S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3615A	3						.						264.0	220.0	235.0					3																	53785874		2203	4300	6503	53760914	SO:0001819	synonymous_variant	776	exon28			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.3615G>A	3.37:g.53785874G>A			53760914	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																				0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
WNT5A	7474	broad.mit.edu	37	3	55504335	55504335	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:55504335C>T	ENST00000474267.1	-	6	1449	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000264634.4_Missense_Mutation_p.V310M|WNT5A_ENST00000497027.1_Missense_Mutation_p.V295M			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	310					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V403M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TCATTGCGCACGCAGTAGTCA	0.647																																					p.V310M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	3						.						56.0	64.0	61.0					3																	55504335		2203	4299	6502	55479375	SO:0001583	missense	7474	exon5			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.928G>A	3.37:g.55504335C>T	ENSP00000417310:p.Val310Met		55479375	NM_003392	A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647400	0.29246	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	T;T;T	0.75821	-0.97;-0.97;-0.97	5.67	5.67	0.87782	.	0.194525	0.45867	D	0.000335	T	0.64136	0.2571	L	0.38649	1.16	0.42812	D	0.993963	B	0.21381	0.055	B	0.24155	0.051	T	0.59716	-0.7402	10	0.33141	T	0.24	.	10.5228	0.44929	0.0:0.7952:0.1334:0.0713	.	310	P41221	WNT5A_HUMAN	M	310;310;221;295	ENSP00000417310:V310M;ENSP00000264634:V310M;ENSP00000420104:V295M	ENSP00000264634:V310M	V	-	1	0	WNT5A	55479375	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	2.372000	0.44257	2.687000	0.91594	0.655000	0.94253	GTG		0.647	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392	
ERC2	26059	broad.mit.edu	37	3	55733440	55733440	+	Missense_Mutation	SNP	G	G	A	rs374217546		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:55733440G>A	ENST00000288221.6	-	16	3068	c.2813C>T	c.(2812-2814)tCg>tTg	p.S938L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	938						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.S938L(1)		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)		GGAATGTTGCGACCTCCCAGG	0.468																																					p.S936L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2807T	3						.	G	LEU/SER	0,4100		0,0,2050	229.0	238.0	235.0		2813	5.7	1.0	3		235	1,8397		0,1,4198	no	missense	ERC2	NM_015576.1	145	0,1,6248	AA,AG,GG		0.0119,0.0,0.0080	benign	938/958	55733440	1,12497	2050	4199	6249	55708480	SO:0001583	missense	26059	exon15			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.2813C>T	3.37:g.55733440G>A	ENSP00000288221:p.Ser938Leu		55708480	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020026	0.75275	0.0	1.19E-4	ENSG00000187672	ENST00000288221	T	0.31769	1.48	5.66	5.66	0.87406	.	0.285709	0.35096	N	0.003442	T	0.21674	0.0522	N	0.19112	0.55	0.47123	D	0.99932	B	0.32731	0.382	B	0.15052	0.012	T	0.02844	-1.1103	10	0.41790	T	0.15	-0.0218	20.1253	0.97977	0.0:0.0:1.0:0.0	.	938	O15083	ERC2_HUMAN	L	938	ENSP00000288221:S938L	ENSP00000288221:S938L	S	-	2	0	ERC2	55708480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.405000	0.80007	2.832000	0.97577	0.655000	0.94253	TCG		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
CCDC66	285331	broad.mit.edu	37	3	56658510	56658510	+	IGR	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:56658510A>G	ENST00000394672.3	+	0	3096				FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000493960.2_Missense_Mutation_p.S1494P|FAM208A_ENST00000355628.5_Missense_Mutation_p.S1433P|FAM208A_ENST00000431842.2_Missense_Mutation_p.S1057P	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)			p.S1057P(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAGTTACCTGACTGCGACTCA	0.368																																					p.S1494P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4480C	3						.						128.0	123.0	125.0					3																	56658510		2203	4300	6503	56633550	SO:0001628	intergenic_variant	23272	exon23			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56658510A>G			56633550	NM_001112736	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701975	0.30232	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.15372	2.43;2.72;2.63	5.43	5.43	0.79202	.	0.122013	0.37623	N	0.002008	T	0.26231	0.0640	L	0.29908	0.895	0.43242	D	0.995159	B;B;D;D	0.61080	0.42;0.112;0.989;0.976	B;B;P;P	0.58928	0.099;0.019;0.848;0.559	T	0.01643	-1.1305	10	0.66056	D	0.02	.	14.0266	0.64590	1.0:0.0:0.0:0.0	.	1494;1433;1057;1494	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	P	1057;1494;1433	ENSP00000399410:S1057P;ENSP00000417509:S1494P;ENSP00000347845:S1433P	ENSP00000347845:S1433P	S	-	1	0	C3orf63	56633550	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.742000	0.62103	2.054000	0.61138	0.459000	0.35465	TCA		0.368	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
FAM208A	23272	broad.mit.edu	37	3	56662639	56662639	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:56662639A>G	ENST00000493960.2	-	19	3761	c.3751T>C	c.(3751-3753)Tat>Cat	p.Y1251H	FAM208A_ENST00000485156.1_5'Flank|FAM208A_ENST00000355628.5_Missense_Mutation_p.Y1190H|FAM208A_ENST00000431842.2_Missense_Mutation_p.Y814H	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1251							poly(A) RNA binding (GO:0044822)	p.Y814H(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						TTGATAAGATATTCCTGTTAA	0.254																																					p.Y1251H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3751C	3						.						44.0	45.0	44.0					3																	56662639		2195	4288	6483	56637679	SO:0001583	missense	23272	exon19			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.3751T>C	3.37:g.56662639A>G	ENSP00000417509:p.Tyr1251His		56637679	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733350	0.69189	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.57436	0.4;0.4;0.4	5.45	4.27	0.50696	.	0.093431	0.47852	D	0.000216	T	0.65984	0.2744	L	0.55103	1.725	0.51012	D	0.999908	D;D;D;D	0.89917	1.0;0.997;1.0;0.999	D;D;D;D	0.91635	0.999;0.994;0.999;0.996	T	0.65697	-0.6105	10	0.51188	T	0.08	-15.6871	11.9652	0.53031	0.8698:0.0:0.0:0.1302	.	1251;1190;814;1251	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	H	814;1251;1190	ENSP00000399410:Y814H;ENSP00000417509:Y1251H;ENSP00000347845:Y1190H	ENSP00000347845:Y1190H	Y	-	1	0	C3orf63	56637679	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	6.618000	0.74214	0.982000	0.38575	0.454000	0.30748	TAT		0.254	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
IL17RD	54756	broad.mit.edu	37	3	57140171	57140171	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:57140171A>C	ENST00000296318.7	-	6	650	c.562T>G	c.(562-564)Ttg>Gtg	p.L188V	IL17RD_ENST00000427856.2_Missense_Mutation_p.L164V|IL17RD_ENST00000320057.5_Missense_Mutation_p.L44V|IL17RD_ENST00000463523.1_Missense_Mutation_p.L44V	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	188					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L44V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GGCTGTAACAACAGGTCACAG	0.373																																					p.L188V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T562G	3						.						70.0	63.0	66.0					3																	57140171		2203	4300	6503	57115211	SO:0001583	missense	54756	exon6			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.562T>G	3.37:g.57140171A>C	ENSP00000296318:p.Leu188Val		57115211	NM_017563	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834241	0.71373	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523;ENST00000467210	T;T;T;T	0.26067	1.76;1.76;1.78;1.76	6.07	0.389	0.16269	.	0.068592	0.64402	D	0.000015	T	0.34832	0.0911	L	0.32530	0.975	0.46061	D	0.998843	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.955;0.991;0.996	T	0.02877	-1.1099	10	0.51188	T	0.08	-20.3465	11.1695	0.48563	0.5884:0.0:0.4116:0.0	.	44;188;164	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	V	188;44;164;44;44	ENSP00000296318:L188V;ENSP00000322250:L44V;ENSP00000399209:L164V;ENSP00000417516:L44V	ENSP00000296318:L188V	L	-	1	2	IL17RD	57115211	0.816000	0.29132	0.952000	0.39060	0.914000	0.54420	1.147000	0.31602	0.132000	0.18615	0.533000	0.62120	TTG		0.373	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563	
PDHB	5162	broad.mit.edu	37	3	58413882	58413882	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:58413882G>A	ENST00000302746.6	-	10	1001	c.959C>T	c.(958-960)gCt>gTt	p.A320V	RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000474765.1_Silent_p.C342C|PDHB_ENST00000485460.1_Missense_Mutation_p.A302V	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	320					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.A320V(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)	AACAGCAGGAGCATCCAGGAA	0.493																																					p.A320V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C959T	3						.						67.0	62.0	64.0					3																	58413882		2203	4300	6503	58388922	SO:0001583	missense	5162	exon10				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.959C>T	3.37:g.58413882G>A	ENSP00000307241:p.Ala320Val		58388922	NM_000925	B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	ENST00000302746.6	37	CCDS2890.1	.	.	.	.	.	.	.	.	.	.	G	37	6.163402	0.97338	.	.	ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460	D;D;D	0.91843	-2.92;-2.92;-2.92	6.16	6.16	0.99307	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96920	0.8994	M	0.93375	3.41	0.80722	D	1	P;D;D	0.59767	0.887;0.973;0.986	P;P;P	0.58577	0.841;0.65;0.755	D	0.96950	0.9694	10	0.87932	D	0	-15.773	20.8598	0.99761	0.0:0.0:1.0:0.0	.	302;302;320	B4DDD7;P11177-2;P11177	.;.;ODPB_HUMAN	V	320;302;302	ENSP00000307241:A320V;ENSP00000373220:A302V;ENSP00000417267:A302V	ENSP00000307241:A320V	A	-	2	0	PDHB	58388922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.937000	0.99478	0.650000	0.86243	GCT		0.493	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1		
FAM107A	11170	broad.mit.edu	37	3	58552356	58552356	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:58552356G>A	ENST00000394481.1	-	5	952	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	FAM107A_ENST00000474531.1_Missense_Mutation_p.R163W|FAM107A_ENST00000447756.2_Missense_Mutation_p.R160W|FAM107A_ENST00000360997.2_Missense_Mutation_p.R132W|FAM107A_ENST00000464064.1_3'UTR	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	132					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)		p.R132W(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GCAATTCTCCGCAGGTTTTCC	0.582																																					p.R132W												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C394T	3						.						87.0	89.0	89.0					3																	58552356		2203	4300	6503	58527396	SO:0001583	missense	11170	exon4			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.394C>T	3.37:g.58552356G>A	ENSP00000377991:p.Arg132Trp		58527396	NM_001076778	B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	37	CCDS2892.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041780	0.75732	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000474531;ENST00000447756	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.86343	2.81	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78656	-0.2119	10	0.87932	D	0	-33.3362	11.9216	0.52795	0.0:0.0:0.7107:0.2893	.	160;163;132	B7ZAY5;B3KNQ4;O95990	.;.;F107A_HUMAN	W	132;132;163;160	ENSP00000354270:R132W;ENSP00000377991:R132W;ENSP00000419124:R163W;ENSP00000400858:R160W	ENSP00000354270:R132W	R	-	1	2	FAM107A	58527396	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.475000	0.35409	2.509000	0.84616	0.563000	0.77884	CGG		0.582	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177	
C3orf67	200844	broad.mit.edu	37	3	58849468	58849468	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:58849468G>A	ENST00000482387.1	-	8	1130	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	C3orf67_ENST00000295966.7_Missense_Mutation_p.S345F|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.S252F			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	345								p.S345F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AACACTCTGGGATTCCTCTGC	0.493																																					p.S345F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1034T	3						.						134.0	132.0	133.0					3																	58849468		2203	4300	6503	58824508	SO:0001583	missense	200844	exon12			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1034C>T	3.37:g.58849468G>A	ENSP00000417122:p.Ser345Phe		58824508	NM_198463	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	G	8.334	0.827120	0.16749	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.19669	2.14;2.13;2.14	5.33	2.47	0.30058	.	0.685825	0.14276	N	0.329815	T	0.12220	0.0297	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.34015	0.15;0.09;0.435	B;B;B	0.33042	0.053;0.023;0.157	T	0.19647	-1.0299	10	0.62326	D	0.03	-3.9164	3.8185	0.08825	0.281:0.1908:0.5281:0.0	.	252;345;345	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	F	345;345;50;252	ENSP00000295966:S345F;ENSP00000417122:S345F;ENSP00000417271:S252F	ENSP00000295966:S345F	S	-	2	0	C3orf67	58824508	0.613000	0.27009	0.387000	0.26183	0.073000	0.16967	0.050000	0.14120	0.707000	0.31934	0.655000	0.94253	TCC		0.493	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
PTPRG	5793	broad.mit.edu	37	3	62216935	62216935	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:62216935A>C	ENST00000474889.1	+	14	2702	c.2325A>C	c.(2323-2325)agA>agC	p.R775S	PTPRG_ENST00000295874.10_Intron	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	775					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.R775S(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)		GCTTTCCCAGACGTTTCCGTG	0.498																																					p.R775S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2325C	3						.						91.0	94.0	93.0					3																	62216935		2203	4300	6503	62191975	SO:0001583	missense	5793	exon14			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.2325A>C	3.37:g.62216935A>C	ENSP00000418112:p.Arg775Ser		62191975	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874176	0.51695	.	.	ENSG00000144724	ENST00000474889	T	0.48836	0.8	5.54	5.54	0.83059	.	0.128538	0.48286	D	0.000182	T	0.33498	0.0865	N	0.22421	0.69	0.80722	D	1	B	0.26318	0.146	B	0.22152	0.038	T	0.18493	-1.0335	10	0.56958	D	0.05	.	10.8167	0.46580	0.842:0.158:0.0:0.0	.	775	P23470	PTPRG_HUMAN	S	775	ENSP00000418112:R775S	ENSP00000418112:R775S	R	+	3	2	PTPRG	62191975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.555000	0.45854	2.326000	0.78906	0.533000	0.62120	AGA		0.498	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
CADPS	8618	broad.mit.edu	37	3	62467400	62467400	+	Silent	SNP	C	C	T	rs145097741	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:62467400C>T	ENST00000383710.4	-	22	3520	c.3171G>A	c.(3169-3171)gcG>gcA	p.A1057A	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1057	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.A1057A(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)		ATACACACTCCGCATCATATA	0.383													C|||	12	0.00239617	0.0091	0.0	5008	,	,		21486	0.0		0.0	False		,,,				2504	0.0				p.A1057A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3171A	3						.	C	,,	22,3760		0,22,1869	158.0	147.0	150.0		3171,,	4.4	1.0	3	dbSNP_134	150	0,8262		0,0,4131	no	coding-synonymous,intron,intron	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	,,	0,22,6000	TT,TC,CC		0.0,0.5817,0.1827	,,	1057/1354,,	62467400	22,12022	1891	4131	6022	62442440	SO:0001819	synonymous_variant	8618	exon22			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.3171G>A	3.37:g.62467400C>T			62442440	NM_003716	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	CCDS46858.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	11.26	1.587736	0.28268	0.005817	0.0	ENSG00000163618	ENST00000473635	.	.	.	5.52	4.36	0.52297	.	.	.	.	.	T	0.54951	0.1890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57283	-0.7838	4	.	.	.	.	11.9325	0.52855	0.6798:0.3202:0.0:0.0	.	.	.	.	Q	44	.	.	R	-	2	0	CADPS	62442440	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.570000	0.36439	1.009000	0.39289	-0.309000	0.09137	CGG		0.383	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	63981687	63981687	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:63981687C>T	ENST00000295900.6	+	12	2739	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	ATXN7_ENST00000538065.1_Missense_Mutation_p.S730F|ATXN7_ENST00000398590.3_Missense_Mutation_p.S730F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S585F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S730F	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	730	Poly-Ser.|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)	p.S730F(1)		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)		tcttcTCATTCCATGGAGTCT	0.512																																					p.S730F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2189T	3						.						52.0	60.0	58.0					3																	63981687		2104	4250	6354	63956727	SO:0001583	missense	6314	exon11			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.2189C>T	3.37:g.63981687C>T	ENSP00000295900:p.Ser730Phe		63956727	NM_001177387	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918173	0.73098	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.17691	2.27;2.27;2.27;2.27;2.26	5.01	5.01	0.66863	.	0.068370	0.64402	D	0.000011	T	0.37348	0.1000	L	0.49350	1.555	0.53688	D	0.999972	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.996;0.997;0.991	T	0.03077	-1.1075	10	0.34782	T	0.22	-10.1403	18.3838	0.90459	0.0:1.0:0.0:0.0	.	585;730;730	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	F	730;730;730;730;585	ENSP00000381590:S730F;ENSP00000295900:S730F;ENSP00000420234:S730F;ENSP00000439585:S730F;ENSP00000428277:S585F	ENSP00000295900:S730F	S	+	2	0	ATXN7	63956727	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.883000	0.69721	2.346000	0.79739	0.650000	0.86243	TCC		0.512	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
PRICKLE2	166336	broad.mit.edu	37	3	64084955	64084955	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:64084955G>A	ENST00000295902.6	-	8	2892	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	PRICKLE2_ENST00000564377.1_Silent_p.F825F|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	769					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.F769F(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)		CATACTCGGCGAAGTAGGGTC	0.612																																					p.F769F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2307T	3						.						64.0	67.0	66.0					3																	64084955		2203	4300	6503	64059995	SO:0001819	synonymous_variant	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.2307C>T	3.37:g.64084955G>A			64059995	NM_198859	Q0VF44	Silent	SNP	ENST00000295902.6	37	CCDS2902.1																																																																																				0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
ADAMTS9	56999	broad.mit.edu	37	3	64666902	64666902	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:64666902T>C	ENST00000498707.1	-	3	996	c.654A>G	c.(652-654)acA>acG	p.T218T	ADAMTS9_ENST00000295903.4_Silent_p.T218T|ADAMTS9_ENST00000459780.1_Silent_p.T218T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	218					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.T218T(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)		CATGCCTTCCTGTTGAGGGCT	0.473																																					p.T218T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A654G	3						.						149.0	134.0	139.0					3																	64666902		2203	4300	6503	64641942	SO:0001819	synonymous_variant	56999	exon3			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.654A>G	3.37:g.64666902T>C			64641942	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	CCDS2903.1																																																																																				0.473	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
MAGI1	9223	broad.mit.edu	37	3	65346916	65346916	+	Missense_Mutation	SNP	G	G	A	rs201117026	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:65346916G>A	ENST00000497477.2	-	21	3390	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	MAGI1_ENST00000330909.8_Missense_Mutation_p.R1226C|RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000483466.1_Missense_Mutation_p.R1227C|MAGI1_ENST00000402939.2_Missense_Mutation_p.R1198C			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1227	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.R1198C(2)|p.R1227C(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGAAACAGACGAACTCTGCGG	0.443													G|||	11	0.00219649	0.0	0.0	5008	,	,		18165	0.0		0.0	False		,,,				2504	0.0112				p.R1226C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3676T	3						.						142.0	131.0	134.0					3																	65346916		2203	4300	6503	65321956	SO:0001583	missense	9223	exon23			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3391C>T	3.37:g.65346916G>A	ENSP00000424369:p.Arg1131Cys		65321956	NM_015520	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.973719	0.92919	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.78	5.78	0.91487	.	0.110600	0.64402	D	0.000005	T	0.59622	0.2207	M	0.82132	2.575	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;0.998	D;D;D;D	0.67900	0.95;0.949;0.954;0.921	T	0.59925	-0.7362	10	0.51188	T	0.08	-20.0636	20.0278	0.97529	0.0:0.0:1.0:0.0	.	1131;1227;1198;1226	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.	C	1198;1226;1122;1102;1227;1131;985	ENSP00000385450:R1198C;ENSP00000331157:R1226C;ENSP00000418177:R1102C;ENSP00000420323:R1227C;ENSP00000424369:R1131C;ENSP00000420796:R985C	ENSP00000331157:R1226C	R	-	1	0	MAGI1	65321956	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.717000	0.92951	0.650000	0.86243	CGT		0.443	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
KBTBD8	84541	broad.mit.edu	37	3	67058648	67058648	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:67058648G>A	ENST00000417314.2	+	4	1694	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	KBTBD8_ENST00000460576.1_Missense_Mutation_p.V107I|KBTBD8_ENST00000295568.4_Missense_Mutation_p.V523I			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	549						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.V523I(2)		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)		TGAAGAACACGTCTTCAGAAC	0.423																																					p.V549I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1645A	3						.						109.0	107.0	107.0					3																	67058648		2203	4300	6503	67141338	SO:0001583	missense	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.1645G>A	3.37:g.67058648G>A	ENSP00000401878:p.Val549Ile		67141338	NM_032505	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	9.894	1.204911	0.22205	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.71341	-0.55;-0.39;-0.56	5.57	3.75	0.43078	Kelch-type beta propeller (1);	5.341630	0.00885	N	0.002172	T	0.56543	0.1992	N	0.08118	0	0.47778	D	0.999512	B;B	0.15719	0.014;0.014	B;B	0.08055	0.002;0.003	T	0.23154	-1.0196	10	0.42905	T	0.14	.	10.8349	0.46681	0.1535:0.0:0.8465:0.0	.	107;549	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	I	523;107;549	ENSP00000295568:V523I;ENSP00000419738:V107I;ENSP00000401878:V549I	ENSP00000295568:V523I	V	+	1	0	KBTBD8	67141338	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.716000	0.74702	1.331000	0.45412	0.650000	0.86243	GTC		0.423	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505	
UBA3	9039	broad.mit.edu	37	3	69126992	69126992	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:69126992C>T	ENST00000361055.4	-	3	194	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	UBA3_ENST00000540295.1_5'UTR|UBA3_ENST00000415609.2_Missense_Mutation_p.R33Q|UBA3_ENST00000349511.4_Missense_Mutation_p.R33Q	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	47					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)	p.R47Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GGGTCCAGATCGCTCGAGGAA	0.433																																					p.R33Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98A	3						.						210.0	209.0	210.0					3																	69126992		2203	4300	6503	69209682	SO:0001583	missense	9039	exon2			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.140G>A	3.37:g.69126992C>T	ENSP00000354340:p.Arg47Gln		69209682	NM_198195	A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928472	0.92389	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511	T;T;T	0.80653	-1.4;0.22;-0.21	5.21	3.42	0.39159	.	0.064498	0.64402	N	0.000008	D	0.87597	0.6217	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.87000	0.2116	10	0.62326	D	0.03	-2.7418	11.6581	0.51330	0.0:0.8562:0.0:0.1438	.	33;47	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	Q	33;47;33	ENSP00000400294:R33Q;ENSP00000354340:R47Q;ENSP00000340041:R33Q	ENSP00000340041:R33Q	R	-	2	0	UBA3	69209682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.041000	0.70988	0.597000	0.29811	-0.140000	0.14226	CGA		0.433	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195	
MITF	4286	broad.mit.edu	37	3	69987093	69987093	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:69987093C>T	ENST00000448226.2	+	3	602	c.475C>T	c.(475-477)Cca>Tca	p.P159S	MITF_ENST00000328528.6_Missense_Mutation_p.P158S|MITF_ENST00000314589.5_Missense_Mutation_p.P143S|MITF_ENST00000352241.4_Missense_Mutation_p.P159S|MITF_ENST00000531774.1_Intron|MITF_ENST00000394355.2_Missense_Mutation_p.P134S|MITF_ENST00000314557.6_Missense_Mutation_p.P52S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Missense_Mutation_p.P52S|MITF_ENST00000472437.1_Missense_Mutation_p.P107S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	159					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.P52S(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCTGAGCTTGCCATGTCCAAA	0.542			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														p.P52S	Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C154T	3						.						99.0	85.0	90.0					3																	69987093		2203	4300	6503	70069783	SO:0001583	missense	4286	exon2				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.475C>T	3.37:g.69987093C>T	ENSP00000391803:p.Pro159Ser		70069783	NM_198158	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	C	14.92	2.680354	0.47886	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.27104	2.5;2.05;2.29;2.47;1.69;2.49;2.48;2.3;1.73	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	L	0.43701	1.375	0.80722	D	1	D;D;D;D;B;B;P	0.67145	0.996;0.968;0.968;0.968;0.34;0.357;0.729	P;P;P;P;B;B;B	0.61201	0.885;0.748;0.748;0.748;0.155;0.237;0.343	T	0.03818	-1.1001	9	.	.	.	.	19.7872	0.96444	0.0:1.0:0.0:0.0	.	107;52;52;134;143;158;159	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	S	159;159;107;158;143;143;134;52;52	ENSP00000295600:P159S;ENSP00000391803:P159S;ENSP00000418845:P107S;ENSP00000327867:P158S;ENSP00000398639:P143S;ENSP00000324443:P143S;ENSP00000377884:P134S;ENSP00000324246:P52S;ENSP00000377880:P52S	.	P	+	1	0	MITF	70069783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.575000	0.60908	2.653000	0.90120	0.650000	0.86243	CCA		0.542	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159	
ROBO2	6092	broad.mit.edu	37	3	77147467	77147467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:77147467C>T	ENST00000461745.1	+	2	1264	c.364C>T	c.(364-366)Cga>Tga	p.R122*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R122*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R138*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	122	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)	p.R122*(2)|p.R138*(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)		AGCAGTGAGTCGAAATGCGTC	0.423																																					p.R122X												.	.	3	Substitution - Nonsense(3)	central_nervous_system(2)|large_intestine(1)	c.C364T	3						.						92.0	94.0	94.0					3																	77147467		2039	4196	6235	77230157	SO:0001587	stop_gained	6092	exon2			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.364C>T	3.37:g.77147467C>T	ENSP00000417164:p.Arg122*		77230157	NM_002942	O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100605	0.56183	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.	.	.	5.59	5.59	0.84812	.	0.000000	0.33419	U	0.004933	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5872	0.95495	0.0:1.0:0.0:0.0	.	.	.	.	X	138;138;138;122;122	.	ENSP00000327536:R122X	R	+	1	2	ROBO2	77230157	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	6.070000	0.71220	2.628000	0.89032	0.655000	0.94253	CGA		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	broad.mit.edu	37	3	77612339	77612339	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:77612339A>C	ENST00000461745.1	+	11	2441	c.1541A>C	c.(1540-1542)aAa>aCa	p.K514T	ROBO2_ENST00000332191.8_Missense_Mutation_p.K514T|ROBO2_ENST00000487694.3_Missense_Mutation_p.K530T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	514					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.K514T(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)		ACAATCAGTAAAAACTATGAT	0.448																																					p.X494Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1482C	3						.						59.0	57.0	58.0					3																	77612339		1880	4109	5989	77695029	SO:0001583	missense	6092	exon10			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.1541A>C	3.37:g.77612339A>C	ENSP00000417164:p.Lys514Thr		77695029	NM_001128929	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238008	0.58886	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.62498	0.02;0.06;0.04	6.07	6.07	0.98685	Fibronectin, type III (1);	0.000000	0.48767	D	0.000162	T	0.62853	0.2462	L	0.58101	1.795	0.40168	D	0.977143	B;B;B	0.19935	0.004;0.04;0.004	B;B;B	0.35039	0.061;0.194;0.061	T	0.68168	-0.5480	9	0.39692	T	0.17	.	11.642	0.51240	0.9316:0.0:0.0684:0.0	.	530;514;514	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	T	530;530;534;514;514;235	ENSP00000417335:K530T;ENSP00000417164:K514T;ENSP00000327536:K514T	ENSP00000327536:K514T	K	+	2	0	ROBO2	77695029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.961000	0.70356	2.326000	0.78906	0.533000	0.62120	AAA		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	broad.mit.edu	37	3	77623762	77623762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:77623762G>A	ENST00000461745.1	+	14	2984	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.R695Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R711Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	695	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R695Q(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)		CCGACTGAACGAAGTGCTGTC	0.443																																					p.R695Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2084A	3						.						87.0	78.0	81.0					3																	77623762		1886	4124	6010	77706452	SO:0001583	missense	6092	exon14			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.2084G>A	3.37:g.77623762G>A	ENSP00000417164:p.Arg695Gln		77706452	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070959	0.55646	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.54675	0.56;0.56;0.56	5.81	5.81	0.92471	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000808	T	0.62841	0.2461	L	0.35723	1.085	0.38466	D	0.947338	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.969;0.971;0.977	T	0.52117	-0.8618	9	0.11485	T	0.65	.	20.0713	0.97726	0.0:0.0:1.0:0.0	.	711;695;695	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	711;711;715;695;695;416	ENSP00000417335:R711Q;ENSP00000417164:R695Q;ENSP00000327536:R695Q	ENSP00000327536:R695Q	R	+	2	0	ROBO2	77706452	1.000000	0.71417	0.551000	0.28230	0.111000	0.19643	9.866000	0.99616	2.752000	0.94435	0.585000	0.79938	CGA		0.443	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	broad.mit.edu	37	3	77645885	77645885	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:77645885A>C	ENST00000461745.1	+	19	3738	c.2838A>C	c.(2836-2838)ggA>ggC	p.G946G	ROBO2_ENST00000332191.8_Silent_p.G946G|ROBO2_ENST00000487694.3_Silent_p.G962G	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	946					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.G946G(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)		ATGAGATTGGAAATTTTGGCC	0.388																																					p.K927Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2779C	3						.						138.0	131.0	133.0					3																	77645885		1824	4080	5904	77728575	SO:0001819	synonymous_variant	6092	exon18			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.2838A>C	3.37:g.77645885A>C			77728575	NM_001128929	O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.688|1.688	-0.504648|-0.504648	0.04261|0.04261	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000471893	.|.	.|.	.|.	6.16|6.16	-6.17|-6.17	0.02091|0.02091	.|.	.|.	.|.	.|.	.|.	T|T	0.24624|0.24624	0.0597|0.0597	.|.	.|.	.|.	0.30974|0.30974	N|N	0.7227589999999999|0.7227589999999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36261|0.36261	-0.9755|-0.9755	3|3	.|.	.|.	.|.	.|.	5.616|5.616	0.17432|0.17432	0.4766:0.1138:0.3398:0.0699|0.4766:0.1138:0.3398:0.0699	.|.	.|.	.|.	.|.	A|Q	103|21	.|.	.|.	E|K	+|+	2|1	0|0	ROBO2|ROBO2	77728575|77728575	0.108000|0.108000	0.22018|0.22018	0.906000|0.906000	0.35671|0.35671	0.649000|0.649000	0.38597|0.38597	-0.541000|-0.541000	0.06099|0.06099	-0.599000|-0.599000	0.05798|0.05798	-0.263000|-0.263000	0.10527|0.10527	GAA|AAA		0.388	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	broad.mit.edu	37	3	78676529	78676529	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:78676529G>A	ENST00000464233.1	-	26	3930	c.3817C>T	c.(3817-3819)Ccc>Tcc	p.P1273S	ROBO1_ENST00000436010.2_Missense_Mutation_p.P1234S|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1173S|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1228S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1273					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)			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)		TGTAACATGGGCTGGAGTTCT	0.542																																					p.P1273S												.	.	0			c.C3817T	3						.						52.0	60.0	58.0					3																	78676529		2164	4270	6434	78759219	SO:0001583	missense	6091	exon26			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.3817C>T	3.37:g.78676529G>A	ENSP00000420321:p.Pro1273Ser		78759219	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371548	0.82573	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.62105	0.21;0.19;0.19;0.05	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.32530	0.975	0.80722	D	1	D;P;D;P;P	0.89917	1.0;0.604;0.999;0.495;0.928	D;B;D;B;P	0.87578	0.998;0.209;0.942;0.095;0.652	T	0.68394	-0.5420	9	.	.	.	.	19.2858	0.94069	0.0:0.0:1.0:0.0	.	1237;1273;1228;1173;1234	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	S	1234;1228;1273;1228;1173;1277	ENSP00000406043:P1234S;ENSP00000420321:P1273S;ENSP00000420637:P1228S;ENSP00000417992:P1173S	.	P	-	1	0	ROBO1	78759219	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	9.809000	0.99208	2.630000	0.89119	0.561000	0.74099	CCC		0.542	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
HTR1F	3355	broad.mit.edu	37	3	88040322	88040322	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:88040322C>T	ENST00000319595.4	+	1	477	c.423C>T	c.(421-423)ggC>ggT	p.G141G		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	141					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.G141G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AGCATGCTGGCATTATGATTA	0.428																																					p.G141G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	3						.						74.0	68.0	70.0					3																	88040322		2203	4300	6503	88123012	SO:0001819	synonymous_variant	3355	exon2			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.423C>T	3.37:g.88040322C>T			88123012	NM_000866		Silent	SNP	ENST00000319595.4	37	CCDS2920.1																																																																																				0.428	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866	
CGGBP1	8545	broad.mit.edu	37	3	88104967	88104967	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:88104967G>A	ENST00000398392.2	-	1	1492	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	CGGBP1_ENST00000309534.6_Missense_Mutation_p.R54C|CGGBP1_ENST00000482016.1_Missense_Mutation_p.R54C|CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000462901.1_Missense_Mutation_p.R54C			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	54					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|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)	p.R54C(1)		kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GCAGACTTGCGAACATGATTC	0.473																																					p.R54C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C160T	3						.						96.0	95.0	95.0					3																	88104967		1990	4155	6145	88187657	SO:0001583	missense	8545	exon4			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.160C>T	3.37:g.88104967G>A	ENSP00000381429:p.Arg54Cys		88187657	NM_001008390	D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552743	0.65425	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901;ENST00000467332	.	.	.	5.94	5.07	0.68467	.	0.000000	0.39985	U	0.001214	T	0.31857	0.0810	L	0.29908	0.895	0.48632	D	0.999688	D	0.61080	0.989	B	0.34991	0.193	T	0.28073	-1.0055	9	0.87932	D	0	0.0355	12.7634	0.57378	0.0755:0.0:0.9245:0.0	.	54	Q9UFW8	CGBP1_HUMAN	C	54	.	ENSP00000381428:R54C	R	-	1	0	CGGBP1	88187657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.266000	0.72540	1.534000	0.49203	0.558000	0.71614	CGC		0.473	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390	
EPHA3	2042	broad.mit.edu	37	3	89259104	89259104	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:89259104G>A	ENST00000336596.2	+	3	473	c.248G>A	c.(247-249)aGa>aAa	p.R83K	EPHA3_ENST00000452448.2_Missense_Mutation_p.R83K|EPHA3_ENST00000494014.1_Missense_Mutation_p.R83K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	83	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R83K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AATTGGCTGAGAACAAACTGG	0.463										TSP Lung(6;0.00050)																											p.R83K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	3						.						78.0	77.0	77.0					3																	89259104		2203	4300	6503	89341794	SO:0001583	missense	2042	exon3			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.248G>A	3.37:g.89259104G>A	ENSP00000337451:p.Arg83Lys		89341794	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040501	0.93630	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.11495	2.77;2.77;2.77	5.34	5.34	0.76211	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	0.967;1.0	D;D	0.78314	0.963;0.991	T	0.03231	-1.1058	9	.	.	.	.	19.0502	0.93039	0.0:0.0:1.0:0.0	.	83;83	P29320;P29320-2	EPHA3_HUMAN;.	K	83	ENSP00000337451:R83K;ENSP00000399926:R83K;ENSP00000419190:R83K	.	R	+	2	0	EPHA3	89341794	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.496000	0.84212	0.563000	0.77884	AGA		0.463	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
EPHA6	285220	broad.mit.edu	37	3	96706200	96706200	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:96706200A>G	ENST00000389672.5	+	3	515	c.477A>G	c.(475-477)gaA>gaG	p.E159E	EPHA6_ENST00000542517.1_Silent_p.E65E|EPHA6_ENST00000470610.2_Silent_p.E159E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	65	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.E65E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAATGGATGAACATAATAGGC	0.373																																					p.E159E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A477G	3						.						101.0	97.0	98.0					3																	96706200		1869	4105	5974	98188890	SO:0001819	synonymous_variant	285220	exon3			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.477A>G	3.37:g.96706200A>G			98188890	NM_001080448	D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	7.257	0.604398	0.14002	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.74	0.725	0.18242	.	.	.	.	.	T	0.56804	0.2010	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48055	-0.9068	4	.	.	.	.	8.9399	0.35722	0.6928:0.0:0.3072:0.0	.	.	.	.	A	104	.	.	T	+	1	0	EPHA6	98188890	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.987000	0.29603	-0.103000	0.12175	0.533000	0.62120	ACA		0.373	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
EPHA6	285220	broad.mit.edu	37	3	97194219	97194219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:97194219G>T	ENST00000514100.1	+	5	336	c.94G>T	c.(94-96)Gga>Tga	p.G32*	EPHA6_ENST00000389672.5_Nonsense_Mutation_p.G640*|EPHA6_ENST00000502694.1_Nonsense_Mutation_p.G32*|EPHA6_ENST00000442602.2_Nonsense_Mutation_p.G6*	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	546						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.G546*(1)|p.G32*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGCAGAACAAGGACAGATTCT	0.413																																					p.G640X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1918T	3						.						74.0	74.0	74.0					3																	97194219		1891	4114	6005	98676909	SO:0001587	stop_gained	285220	exon8			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.94G>T	3.37:g.97194219G>T	ENSP00000421711:p.Gly32*		98676909	NM_001080448	D6RAL5	Nonsense_Mutation	SNP	ENST00000514100.1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.554923	0.98355	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	X	640;32;32;6	.	ENSP00000374323:G640X	G	+	1	0	EPHA6	98676909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.689000	0.91265	2.885000	0.99019	0.655000	0.94253	GGA		0.413	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448	
OR5H1	26341	broad.mit.edu	37	3	97852225	97852225	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:97852225G>T	ENST00000354565.2	+	1	684	c.684G>T	c.(682-684)aaG>aaT	p.K228N	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	228				K -> R (in Ref. 2; X64988). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K228N(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCTTAAAAAAGAAATCTGATA	0.363																																					p.K228N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G684T	3						.						75.0	83.0	80.0					3																	97852225		2203	4299	6502	99334915	SO:0001583	missense	26341	exon1			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.684G>T	3.37:g.97852225G>T	ENSP00000346575:p.Lys228Asn		99334915	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	0.086	-1.174645	0.01646	.	.	ENSG00000231192	ENST00000354565	T	0.00115	8.71	3.57	-0.872	0.10638	GPCR, rhodopsin-like superfamily (1);	0.767654	0.11407	N	0.567147	T	0.00109	0.0003	L	0.28274	0.84	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.34079	-0.9843	10	0.87932	D	0	.	1.9348	0.03334	0.1854:0.1262:0.447:0.2414	.	228	A6NKK0	OR5H1_HUMAN	N	228	ENSP00000346575:K228N	ENSP00000346575:K228N	K	+	3	2	OR5H1	99334915	0.000000	0.05858	0.027000	0.17364	0.000000	0.00434	-0.317000	0.08060	-0.361000	0.08125	-2.718000	0.00132	AAG		0.363	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
OR5H15	403274	broad.mit.edu	37	3	97887717	97887717	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:97887717A>C	ENST00000356526.2	+	1	174	c.174A>C	c.(172-174)ccA>ccC	p.P58P		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTCATATCCCAATGTACTTAC	0.418																																					p.P58P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A174C	3						.						66.0	66.0	66.0					3																	97887717		2200	4277	6477	99370407	SO:0001819	synonymous_variant	403274	exon1				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.174A>C	3.37:g.97887717A>C			99370407	NM_001005515		Silent	SNP	ENST00000356526.2	37	CCDS33799.1																																																																																				0.418	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1		
OR5H6	79295	broad.mit.edu	37	3	97983880	97983880	+	Missense_Mutation	SNP	G	G	A	rs145676438	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:97983880G>A	ENST00000383696.2	+	1	793	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R251Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAGGGATACGAAAAGCTGTC	0.398																																					p.R251Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752A	3						.	G	GLN/ARG	1,4405		0,1,2202	51.0	51.0	51.0		752	-3.8	0.0	3	dbSNP_134	51	2,8596		0,2,4297	no	missense	OR5H6	NM_001005479.1	43	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	benign	251/326	97983880	3,13001	2203	4299	6502	99466570	SO:0001583	missense	79295	exon1			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.752G>A	3.37:g.97983880G>A	ENSP00000373196:p.Arg251Gln		99466570	NM_001005479	Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	6.714	0.500465	0.12822	2.27E-4	2.33E-4	ENSG00000230301	ENST00000383696	T	0.00130	8.69	2.19	-3.85	0.04243	GPCR, rhodopsin-like superfamily (1);	1.311320	0.05197	N	0.504292	T	0.00109	0.0003	L	0.37507	1.11	0.09310	N	1	P	0.41366	0.747	B	0.37387	0.248	T	0.30297	-0.9983	10	0.17369	T	0.5	.	8.073	0.30699	0.5394:0.0:0.4606:0.0	.	251	Q8NGV6	OR5H6_HUMAN	Q	251	ENSP00000373196:R251Q	ENSP00000373196:R251Q	R	+	2	0	OR5H6	99466570	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-1.703000	0.01900	-1.284000	0.02390	-1.441000	0.01070	CGA		0.398	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2		
OR5K4	403278	broad.mit.edu	37	3	98073321	98073321	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:98073321C>A	ENST00000354924.2	+	1	624	c.624C>A	c.(622-624)atC>atA	p.I208I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I208I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CAATTCAAATCTTTACCATTG	0.343																																					p.I208I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C624A	3						.						84.0	84.0	84.0					3																	98073321		2203	4300	6503	99556011	SO:0001819	synonymous_variant	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.624C>A	3.37:g.98073321C>A			99556011	NM_001005517		Silent	SNP	ENST00000354924.2	37	CCDS33802.1																																																																																				0.343	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
OR5K3	403277	broad.mit.edu	37	3	98110153	98110153	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:98110153C>T	ENST00000383695.1	+	1	644	c.644C>T	c.(643-645)tCt>tTt	p.S215F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S215F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GTCTTAGTTTCTTATTTCTAC	0.318																																					p.S215F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C644T	3						.						106.0	105.0	105.0					3																	98110153		2203	4298	6501	99592843	SO:0001583	missense	403277	exon1				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.644C>T	3.37:g.98110153C>T	ENSP00000373194:p.Ser215Phe		99592843	NM_001005516		Missense_Mutation	SNP	ENST00000383695.1	37	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679868	0.29783	.	.	ENSG00000206536	ENST00000383695	T	0.42513	0.97	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.158012	0.30076	N	0.010469	T	0.73544	0.3600	M	0.93197	3.39	0.22975	N	0.998489	D	0.89917	1.0	D	0.91635	0.999	T	0.71163	-0.4673	10	0.87932	D	0	-50.195	16.4659	0.84079	0.0:1.0:0.0:0.0	.	215	A6NET4	OR5K3_HUMAN	F	215	ENSP00000373194:S215F	ENSP00000373194:S215F	S	+	2	0	OR5K3	99592843	1.000000	0.71417	0.404000	0.26397	0.017000	0.09413	4.192000	0.58378	2.527000	0.85204	0.603000	0.83216	TCT		0.318	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1		
LRCH3	84859	broad.mit.edu	37	3	197559084	197559084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr3:197559084C>A	ENST00000425562.2	+	8	998	c.998C>A	c.(997-999)tCa>tAa	p.S333*	LRCH3_ENST00000414675.2_Nonsense_Mutation_p.S333*|LRCH3_ENST00000438796.2_Nonsense_Mutation_p.S333*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.S333*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.S207*|AC055764.1_ENST00000454526.1_RNA			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	333						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S333*(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)		GATGAATTTTCAGATCTGCCT	0.423																																					p.S333X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C998A	3						.						77.0	74.0	75.0					3																	197559084		2203	4300	6503	199043481	SO:0001587	stop_gained	84859	exon8			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.998C>A	3.37:g.197559084C>A	ENSP00000393579:p.Ser333*		199043481	NM_032773	B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	37		.	.	.	.	.	.	.	.	.	.	C	38	6.917356	0.97932	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.51	5.51	0.81932	.	0.073222	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-14.58	19.4531	0.94876	0.0:1.0:0.0:0.0	.	.	.	.	X	333;207;333;333;333	.	ENSP00000334375:S333X	S	+	2	0	LRCH3	199043481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.680000	0.74518	2.601000	0.87937	0.585000	0.79938	TCA		0.423	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773	
ADH6	130	broad.mit.edu	37	4	100129871	100129871	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:100129871G>A	ENST00000237653.7	-	6	1166	c.782C>T	c.(781-783)gCt>gTt	p.A261V	RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.A261V|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.A52V|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.A261V	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	261					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.A261V(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	GTCTATACCAGCATCTGTCAT	0.403																																					p.A261V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C782T	4						.						202.0	215.0	210.0					4																	100129871		2203	4300	6503	100348894	SO:0001583	missense	130	exon6			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.782C>T	4.37:g.100129871G>A	ENSP00000237653:p.Ala261Val		100348894	NM_000672	B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029585	0.35797	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T;T	0.22539	3.63;1.95;1.95;1.95;3.63	4.71	-4.42	0.03579	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	1.268840	0.05251	N	0.513889	T	0.13713	0.0332	N	0.21194	0.64	0.09310	N	1	B;B;B;B	0.29671	0.254;0.142;0.017;0.002	B;B;B;B	0.36030	0.216;0.216;0.008;0.001	T	0.38200	-0.9672	10	0.72032	D	0.01	-0.0264	2.1027	0.03683	0.1391:0.3152:0.2169:0.3288	.	138;261;261;261	B4DPD8;E9PBI1;P28332;P28332-2	.;.;ADH6_HUMAN;.	V	261;261;52;261;197	ENSP00000378358:A261V;ENSP00000378359:A261V;ENSP00000384997:A52V;ENSP00000237653:A261V;ENSP00000426187:A197V	ENSP00000237653:A261V	A	-	2	0	ADH6	100348894	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.392000	0.07314	-0.805000	0.04404	-0.259000	0.10710	GCT		0.403	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	
ADH1C	126	broad.mit.edu	37	4	100268197	100268197	+	RNA	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:100268197T>G	ENST00000510055.1	-	0	399				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTCAAACACTTTCCACGATGC	0.517																																					p.E75D												.	.	0			c.A225C	4						.						210.0	202.0	205.0					4																	100268197		2203	4300	6503	100487220			126	exon3			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268197T>G			100487220	NM_000669	Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37																																																																																					0.517	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669	
MTTP	4547	broad.mit.edu	37	4	100543835	100543835	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:100543835C>T	ENST00000265517.5	+	18	2718	c.2515C>T	c.(2515-2517)Caa>Taa	p.Q839*	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Splice_Site_p.Q866*|MTTP_ENST00000457717.1_Splice_Site_p.Q839*			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	839					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.Q839*(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)	GTTGTACAGGCAATTTGAGAA	0.413																																					p.Q839X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2515T	4						.						112.0	110.0	111.0					4																	100543835		2203	4300	6503	100762858	SO:0001630	splice_region_variant	4547	exon19				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.2514-1C>T	4.37:g.100543835C>T			100762858	NM_000253	A8K428|Q08AM4|Q6P5T3	Nonsense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	38	7.119532	0.98077	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	.	.	.	6.16	6.16	0.99307	.	0.297563	0.36555	N	0.002528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-28.4729	16.2666	0.82588	0.1331:0.8669:0.0:0.0	.	.	.	.	X	866;839;839	.	ENSP00000265517:Q839X	Q	+	1	0	MTTP	100762858	1.000000	0.71417	0.998000	0.56505	0.237000	0.25408	2.112000	0.41892	2.937000	0.99478	0.650000	0.86243	CAA		0.413	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		Nonsense_Mutation
PPP3CA	5530	broad.mit.edu	37	4	102117114	102117114	+	Missense_Mutation	SNP	C	C	T	rs141696639	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:102117114C>T	ENST00000394854.3	-	2	901	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	PPP3CA_ENST00000323055.6_Missense_Mutation_p.R73Q|PPP3CA_ENST00000512215.1_Missense_Mutation_p.R73Q|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Missense_Mutation_p.R73Q|PPP3CA_ENST00000523694.2_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	73	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	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 serine/threonine phosphatase activity (GO:0004722)	p.R73Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTTTTCCTGTCGAAGAATTGA	0.428																																					p.R73Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	4						.	C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	109.0	111.0	110.0		218,218,218	5.7	1.0	4	dbSNP_134	110	0,8600		0,0,4300	yes	missense,missense,missense	PPP3CA	NM_000944.4,NM_001130691.1,NM_001130692.1	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	73/522,73/512,73/470	102117114	2,13004	2203	4300	6503	102336137	SO:0001583	missense	5530	exon2				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.218G>A	4.37:g.102117114C>T	ENSP00000378323:p.Arg73Gln		102336137	NM_001130691	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008876	0.75046	4.54E-4	0.0	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000529324;ENST00000525819	T;T;T;T;T;T	0.63255	3.39;-0.03;-0.03;-0.03;-0.03;-0.03	5.65	5.65	0.86999	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000002	D	0.83622	0.5294	M	0.91300	3.195	0.80722	D	1	P;D;P;P	0.69078	0.94;0.997;0.805;0.822	B;D;B;B	0.69479	0.209;0.964;0.148;0.284	D	0.86304	0.1682	10	0.66056	D	0.02	-6.2955	19.0843	0.93196	0.0:1.0:0.0:0.0	.	73;73;73;73	Q08209;A8W6Z8;A8W6Z7;Q08209-2	PP2BA_HUMAN;.;.;.	Q	73;73;73;73;23;23	ENSP00000422781:R73Q;ENSP00000378323:R73Q;ENSP00000320580:R73Q;ENSP00000378322:R73Q;ENSP00000431619:R23Q;ENSP00000434599:R23Q	ENSP00000320580:R73Q	R	-	2	0	PPP3CA	102336137	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.496000	0.81526	2.824000	0.97209	0.655000	0.94253	CGA		0.428	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944	
BANK1	55024	broad.mit.edu	37	4	102839227	102839227	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:102839227C>T	ENST00000322953.4	+	7	1361	c.1087C>T	c.(1087-1089)Ctt>Ttt	p.L363F	BANK1_ENST00000428908.1_Missense_Mutation_p.L230F|BANK1_ENST00000444316.2_Missense_Mutation_p.L333F|BANK1_ENST00000504592.1_Missense_Mutation_p.L348F|BANK1_ENST00000508653.1_Missense_Mutation_p.L230F	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	363					B cell activation (GO:0042113)			p.L363F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TATTCATTTGCTTCAATGTTC	0.413																																					p.L363F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1087T	4						.						92.0	93.0	93.0					4																	102839227		2203	4299	6502	103058250	SO:0001583	missense	55024	exon7			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1087C>T	4.37:g.102839227C>T	ENSP00000320509:p.Leu363Phe		103058250	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863874	0.71949	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	4.66	4.66	0.58398	Ankyrin repeat-containing domain (1);	0.111618	0.36200	N	0.002736	T	0.73713	0.3622	M	0.69358	2.11	0.38850	D	0.956247	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.78499	-0.2180	10	0.87932	D	0	.	15.1095	0.72343	0.0:1.0:0.0:0.0	.	230;363;348	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	F	348;363;230;230;333	ENSP00000421443:L348F;ENSP00000320509:L363F;ENSP00000412748:L230F;ENSP00000422314:L230F;ENSP00000388817:L333F	ENSP00000320509:L363F	L	+	1	0	BANK1	103058250	0.990000	0.36364	1.000000	0.80357	0.897000	0.52465	2.407000	0.44565	2.409000	0.81822	0.655000	0.94253	CTT		0.413	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
BANK1	55024	broad.mit.edu	37	4	102992455	102992455	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:102992455C>T	ENST00000322953.4	+	14	2510	c.2236C>T	c.(2236-2238)Cca>Tca	p.P746S	BANK1_ENST00000428908.1_Missense_Mutation_p.P613S|BANK1_ENST00000444316.2_Missense_Mutation_p.P716S|BANK1_ENST00000504592.1_Missense_Mutation_p.P731S|BANK1_ENST00000508653.1_Missense_Mutation_p.P613S	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	746					B cell activation (GO:0042113)			p.P746S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGTGCACCATCCAGGTGGTAA	0.294																																					p.P746S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2236T	4						.						144.0	153.0	150.0					4																	102992455		2203	4300	6503	103211478	SO:0001583	missense	55024	exon14			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2236C>T	4.37:g.102992455C>T	ENSP00000320509:p.Pro746Ser		103211478	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212584	0.58452	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.19250	2.84;2.83;2.16;2.16;2.84	4.51	3.65	0.41850	.	0.000000	0.64402	D	0.000013	T	0.32941	0.0846	L	0.36672	1.1	0.29735	N	0.837584	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.87578	0.895;0.998;0.998	T	0.07751	-1.0756	10	0.48119	T	0.1	.	10.5839	0.45271	0.0:0.8045:0.1955:0.0	.	613;746;731	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	S	731;746;613;613;716	ENSP00000421443:P731S;ENSP00000320509:P746S;ENSP00000412748:P613S;ENSP00000422314:P613S;ENSP00000388817:P716S	ENSP00000320509:P746S	P	+	1	0	BANK1	103211478	1.000000	0.71417	0.983000	0.44433	0.911000	0.54048	1.761000	0.38440	1.231000	0.43661	0.585000	0.79938	CCA		0.294	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
MANBA	4126	broad.mit.edu	37	4	103611846	103611846	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:103611846G>A	ENST00000226578.4	-	6	855	c.756C>T	c.(754-756)atC>atT	p.I252I	MANBA_ENST00000505239.1_Silent_p.I195I	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	252					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.I252I(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)		GGATGGCTACGATCACTTGAC	0.393																																					p.I252I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	4						.						262.0	223.0	236.0					4																	103611846		2203	4300	6503	103830894	SO:0001819	synonymous_variant	4126	exon6				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.756C>T	4.37:g.103611846G>A			103830894	NM_005908	Q96BC3|Q9NYX9	Silent	SNP	ENST00000226578.4	37	CCDS3658.1																																																																																				0.393	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2		
SLC9B2	133308	broad.mit.edu	37	4	103970157	103970157	+	Silent	SNP	G	G	A	rs376080494		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:103970157G>A	ENST00000394785.3	-	6	1237	c.606C>T	c.(604-606)ggC>ggT	p.G202G	SLC9B2_ENST00000503103.1_Silent_p.G145G|SLC9B2_ENST00000362026.3_Silent_p.G202G|SLC9B2_ENST00000339611.4_Silent_p.G202G|SLC9B2_ENST00000503230.1_Silent_p.G145G	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	202					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.G202G(6)									TTACACAAACGCCCTTTAACT	0.448																																					p.G202G												.	.	6	Substitution - coding silent(6)	large_intestine(2)|lung(2)|endometrium(2)	c.C606T	4						.						100.0	87.0	91.0					4																	103970157		2203	4300	6503	104189606	SO:0001819	synonymous_variant	133308	exon6			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.606C>T	4.37:g.103970157G>A			104189606	NM_178833	B5ME52|Q6ZMD8|Q96D95	Silent	SNP	ENST00000394785.3	37	CCDS3662.1																																																																																				0.448	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833	
CENPE	1062	broad.mit.edu	37	4	104072448	104072448	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:104072448G>A	ENST00000265148.3	-	26	3413	c.3324C>T	c.(3322-3324)gcC>gcT	p.A1108A	CENPE_ENST00000380026.3_Silent_p.A1083A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1108					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.A1108A(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)		CTTTCTTTATGGCATGGTTCT	0.368																																					p.A1108A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3324T	4						.						145.0	129.0	134.0					4																	104072448		2203	4298	6501	104291897	SO:0001819	synonymous_variant	1062	exon26			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.3324C>T	4.37:g.104072448G>A			104291897	NM_001813	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																				0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TACR3	6870	broad.mit.edu	37	4	104512768	104512768	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:104512768G>T	ENST00000304883.2	-	4	1101	c.961C>A	c.(961-963)Ctc>Atc	p.L321I	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	321					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)	p.L321I(1)		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)		ATTGCAGTGAGAATGAAGTAA	0.373																																					p.L321I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C961A	4						.						97.0	92.0	94.0					4																	104512768		2203	4300	6503	104732217	SO:0001583	missense	6870	exon4			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.961C>A	4.37:g.104512768G>T	ENSP00000303325:p.Leu321Ile		104732217	NM_001059	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357191	0.41801	.	.	ENSG00000169836	ENST00000304883	T	0.39592	1.07	5.21	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.183723	0.47455	D	0.000238	T	0.37679	0.1012	M	0.63843	1.955	0.34140	D	0.666281	B	0.11235	0.004	B	0.26202	0.067	T	0.46303	-0.9201	10	0.39692	T	0.17	.	7.2779	0.26294	0.0:0.3353:0.4046:0.2601	.	321	P29371	NK3R_HUMAN	I	321	ENSP00000303325:L321I	ENSP00000303325:L321I	L	-	1	0	TACR3	104732217	0.959000	0.32827	1.000000	0.80357	0.976000	0.68499	1.455000	0.35190	1.288000	0.44600	0.655000	0.94253	CTC		0.373	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
TET2	54790	broad.mit.edu	37	4	106157490	106157490	+	Silent	SNP	C	C	T	rs144220888		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:106157490C>T	ENST00000540549.1	+	3	3251	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	TET2_ENST00000394764.1_Silent_p.F797F|TET2_ENST00000305737.2_Silent_p.F797F|TET2_ENST00000545826.1_Silent_p.F797F|TET2_ENST00000413648.2_Silent_p.F797F|TET2_ENST00000513237.1_Silent_p.F818F|TET2_ENST00000380013.4_Silent_p.F797F			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	797	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.F797F(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAGCGAGTTCGAGACTCATA	0.373			"""Mis N, F"""		MDS																																p.F797F			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2391T	4						.	C	,	4,4400	8.1+/-20.4	0,4,2198	57.0	61.0	60.0		2391,2391	4.1	1.0	4	dbSNP_134	60	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	TET2	NM_001127208.2,NM_017628.4	,	0,4,6497	TT,TC,CC		0.0,0.0908,0.0308	,	797/2003,797/1166	106157490	4,12998	2202	4299	6501	106376939	SO:0001819	synonymous_variant	54790	exon3			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2391C>T	4.37:g.106157490C>T			106376939	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	CCDS47120.1																																																																																				0.373	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
GSTCD	79807	broad.mit.edu	37	4	106744129	106744129	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:106744129G>A	ENST00000515279.1	+	6	1479	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	GSTCD_ENST00000394728.3_Missense_Mutation_p.R420Q|GSTCD_ENST00000515255.1_3'UTR|RP11-45L9.1_ENST00000504955.1_RNA|GSTCD_ENST00000360505.5_Missense_Mutation_p.R420Q|RP11-45L9.1_ENST00000509003.1_RNA|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000394730.3_Missense_Mutation_p.R333Q			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	420						extracellular vesicular exosome (GO:0070062)		p.R333Q(1)		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)		TCCAGTGATCGAGCTTTGAGG	0.413																																					p.R333Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	4						.						171.0	151.0	158.0					4																	106744129		2203	4300	6503	106963578	SO:0001583	missense	79807	exon6			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.1259G>A	4.37:g.106744129G>A	ENSP00000422354:p.Arg420Gln		106963578	NM_024751	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254371	0.95336	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.83275	0.797;0.996	D	0.86194	0.1614	9	0.72032	D	0.01	-8.4519	18.625	0.91334	0.0:0.0:1.0:0.0	.	420;43	Q8NEC7;B7Z8J7	GSTCD_HUMAN;.	Q	333;420;420;420	.	ENSP00000353695:R420Q	R	+	2	0	GSTCD	106963578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.404000	0.79996	2.467000	0.83353	0.585000	0.79938	CGA		0.413	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	
NPNT	255743	broad.mit.edu	37	4	106888415	106888415	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:106888415C>T	ENST00000379987.2	+	11	1632	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	NPNT_ENST00000514622.1_Silent_p.L443L|NPNT_ENST00000506666.1_Silent_p.L473L|NPNT_ENST00000305572.8_Silent_p.L443L|NPNT_ENST00000427316.2_Silent_p.L502L|NPNT_ENST00000453617.2_Silent_p.L489L	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	472	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|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)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.L472L(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGCTACCTCTCGGCCGCCTCA	0.572																																					p.L472L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1416T	4						.						41.0	42.0	42.0					4																	106888415		2203	4300	6503	107107864	SO:0001819	synonymous_variant	255743	exon11				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1416C>T	4.37:g.106888415C>T			107107864	NM_001033047	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	CCDS34046.1																																																																																				0.572	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278	
PAPSS1	9061	broad.mit.edu	37	4	108574727	108574727	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:108574727C>T	ENST00000265174.4	-	9	1429	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	386					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)|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.R386Q(2)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAATAAACTCGATCCAAGAC	0.348																																					p.R386Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G1157A	4						.						141.0	124.0	130.0					4																	108574727		2203	4300	6503	108794176	SO:0001583	missense	9061	exon9			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1157G>A	4.37:g.108574727C>T	ENSP00000265174:p.Arg386Gln		108794176	NM_005443	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212722	0.95069	.	.	ENSG00000138801	ENST00000265174	T	0.23348	1.91	5.47	5.47	0.80525	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.114505	0.56097	D	0.000027	T	0.31263	0.0791	M	0.78801	2.425	0.80722	D	1	P	0.37441	0.595	B	0.23419	0.046	T	0.34354	-0.9832	10	0.66056	D	0.02	-11.9101	19.3341	0.94307	0.0:1.0:0.0:0.0	.	386	O43252	PAPS1_HUMAN	Q	386	ENSP00000265174:R386Q	ENSP00000265174:R386Q	R	-	2	0	PAPSS1	108794176	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.442000	0.59988	2.558000	0.86282	0.557000	0.71058	CGA		0.348	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2		
LEF1	51176	broad.mit.edu	37	4	109000705	109000705	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:109000705A>G	ENST00000265165.1	-	7	1442	c.788T>C	c.(787-789)aTt>aCt	p.I263T	LEF1_ENST00000503879.1_5'Flank|LEF1_ENST00000438313.2_Missense_Mutation_p.I235T|LEF1_ENST00000379951.2_Missense_Mutation_p.I235T|LEF1_ENST00000510624.1_Missense_Mutation_p.I167T	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	263	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I263T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGTGTTACAATAGCTGGATG	0.488																																					p.I167T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T500C	4						.						280.0	227.0	245.0					4																	109000705		2203	4300	6503	109220154	SO:0001583	missense	51176	exon6				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.788T>C	4.37:g.109000705A>G	ENSP00000265165:p.Ile263Thr		109220154	NM_001166119	B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782525	0.90282	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.99298	-5.71;-5.68;-5.71;-5.71	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	M	0.88105	2.93	0.80722	D	1	P;P;D;P;D	0.71674	0.932;0.932;0.989;0.83;0.998	P;P;D;P;D	0.75020	0.84;0.888;0.985;0.755;0.954	D	0.98501	1.0614	10	0.87932	D	0	-15.18	16.2421	0.82418	1.0:0.0:0.0:0.0	.	167;120;235;235;263	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	T	263;235;235;167	ENSP00000265165:I263T;ENSP00000369284:I235T;ENSP00000406176:I235T;ENSP00000422840:I167T	ENSP00000265165:I263T	I	-	2	0	LEF1	109220154	1.000000	0.71417	0.250000	0.24296	0.996000	0.88848	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	ATT		0.488	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2		
HS3ST1	9957	broad.mit.edu	37	4	11400898	11400898	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:11400898C>T	ENST00000002596.5	-	2	1906	c.732G>A	c.(730-732)tcG>tcA	p.S244S		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	244					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)	p.S244S(3)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						AGTAGAAGTTCGAAGCATTGA	0.572																																					p.S244S												.	.	3	Substitution - coding silent(3)	large_intestine(1)|lung(1)|breast(1)	c.G732A	4						.						43.0	44.0	43.0					4																	11400898		2203	4300	6503	11009996	SO:0001819	synonymous_variant	9957	exon2			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.732G>A	4.37:g.11400898C>T			11009996	NM_005114	B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	CCDS3408.1																																																																																				0.572	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
ETNPPL	64850	broad.mit.edu	37	4	109675802	109675802	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:109675802C>A	ENST00000296486.3	-	5	629	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	ETNPPL_ENST00000510706.1_Missense_Mutation_p.D119Y|ETNPPL_ENST00000411864.2_Missense_Mutation_p.D153Y|ETNPPL_ENST00000512646.1_Missense_Mutation_p.D101Y	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	159						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.D159Y(1)									TTTTTGACATCTTTTCCTTTC	0.328																																					p.D101Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301T	4						.						113.0	113.0	113.0					4																	109675802		2203	4300	6503	109895251	SO:0001583	missense	64850	exon4			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.475G>T	4.37:g.109675802C>A	ENSP00000296486:p.Asp159Tyr		109895251	NM_001146627	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853151	0.71719	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.84	5.84	0.93424	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.143048	0.64402	D	0.000009	D	0.92473	0.7610	M	0.80183	2.485	0.54753	D	0.999981	P;P;D	0.69078	0.738;0.917;0.997	P;P;D	0.65323	0.593;0.545;0.934	D	0.91696	0.5370	9	.	.	.	-32.309	20.1392	0.98050	0.0:1.0:0.0:0.0	.	101;153;159	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	Y	159;153;101;119	ENSP00000296486:D159Y;ENSP00000392269:D153Y;ENSP00000427065:D101Y;ENSP00000423240:D119Y	.	D	-	1	0	AGXT2L1	109895251	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.954000	0.56708	2.775000	0.95449	0.655000	0.94253	GAT		0.328	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	
COL25A1	84570	broad.mit.edu	37	4	110223157	110223157	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:110223157C>T	ENST00000399132.1	-	2	549	c.19G>A	c.(19-21)Gca>Aca	p.A7T	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399126.1_Missense_Mutation_p.A7T|COL25A1_ENST00000399127.1_Missense_Mutation_p.A7T	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.A7T(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)		CCTTTCCCTGCGTGCTTCTTC	0.627																																					p.A7T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G19A	4						.						26.0	29.0	28.0					4																	110223157		1949	4130	6079	110442606	SO:0001583	missense	84570	exon2			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.19G>A	4.37:g.110223157C>T	ENSP00000382083:p.Ala7Thr		110442606	NM_198721		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759742	0.31137	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653;ENST00000505591	D;D;D	0.92595	-2.84;-2.98;-3.07	4.73	1.99	0.26369	.	0.347095	0.21095	N	0.080254	T	0.79896	0.4525	N	0.24115	0.695	0.09310	N	1	B;B;B	0.28208	0.004;0.0;0.203	B;B;B	0.15052	0.003;0.001;0.012	T	0.64685	-0.6349	9	.	.	.	-3.1073	1.3245	0.02123	0.1805:0.4533:0.1743:0.192	.	7;7;7	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	T	7	ENSP00000382083:A7T;ENSP00000382078:A7T;ENSP00000382077:A7T	.	A	-	1	0	COL25A1	110442606	0.028000	0.19301	0.011000	0.14972	0.060000	0.15804	0.735000	0.26115	0.691000	0.31592	0.561000	0.74099	GCA		0.627	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
SEC24B	10427	broad.mit.edu	37	4	110433236	110433236	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:110433236G>A	ENST00000265175.5	+	9	1955	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	SEC24B_ENST00000504968.2_Missense_Mutation_p.D664N|SEC24B_ENST00000399100.2_Missense_Mutation_p.D599N	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	634					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.D634N(1)|p.D599N(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)		TAGAGTAAACGATGGTGAGTT	0.343																																					p.D634N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1900A	4						.						136.0	125.0	129.0					4																	110433236		1848	4082	5930	110652685	SO:0001583	missense	10427	exon9			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.1900G>A	4.37:g.110433236G>A	ENSP00000265175:p.Asp634Asn		110652685	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436728	0.83885	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77620	-1.11;-1.11;-1.11	5.38	5.38	0.77491	Zinc finger, Sec23/Sec24-type (2);	0.047626	0.85682	D	0.000000	T	0.78559	0.4302	M	0.62723	1.935	0.80722	D	1	P;B;P;P;P	0.37122	0.583;0.256;0.583;0.528;0.583	B;B;B;B;B	0.37989	0.162;0.067;0.262;0.171;0.262	T	0.81143	-0.1067	10	0.87932	D	0	-22.0461	19.1412	0.93446	0.0:0.0:1.0:0.0	.	548;233;664;599;634	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	N	664;599;634	ENSP00000428564:D664N;ENSP00000382051:D599N;ENSP00000265175:D634N	ENSP00000265175:D634N	D	+	1	0	SEC24B	110652685	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	9.869000	0.99810	2.504000	0.84457	0.585000	0.79938	GAT		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
EGF	1950	broad.mit.edu	37	4	110915966	110915966	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:110915966T>C	ENST00000265171.5	+	20	3380	c.2935T>C	c.(2935-2937)Tcc>Ccc	p.S979P	EGF_ENST00000503392.1_Missense_Mutation_p.S938P|RNU6-35P_ENST00000384530.1_RNA|EGF_ENST00000509793.1_Missense_Mutation_p.S937P	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	979	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S979P(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATGTCCCCTGTCCCACGATGG	0.463																																					p.S979P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2935C	4						.						170.0	141.0	151.0					4																	110915966		2203	4300	6503	111135415	SO:0001583	missense	1950	exon20			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2935T>C	4.37:g.110915966T>C	ENSP00000265171:p.Ser979Pro		111135415	NM_001963	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.462699	0.26248	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.13901	2.55;2.55;2.55	5.35	2.85	0.33270	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.320352	0.33057	N	0.005338	T	0.12135	0.0295	L	0.52364	1.645	0.09310	N	1	B;B;B	0.30542	0.284;0.241;0.284	B;B;B	0.33568	0.166;0.103;0.166	T	0.18053	-1.0349	10	0.30078	T	0.28	.	5.7375	0.18075	0.148:0.0823:0.0:0.7697	.	938;937;979	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	P	937;979;938	ENSP00000424316:S937P;ENSP00000265171:S979P;ENSP00000421384:S938P	ENSP00000265171:S979P	S	+	1	0	EGF	111135415	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.378000	0.20569	0.846000	0.35142	0.533000	0.62120	TCC		0.463	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
TIFA	92610	broad.mit.edu	37	4	113199049	113199049	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:113199049G>T	ENST00000361717.3	-	2	805	c.524C>A	c.(523-525)tCt>tAt	p.S175Y	TIFA_ENST00000500655.2_Missense_Mutation_p.S175Y	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	175					I-kappaB kinase/NF-kappaB signaling (GO:0007249)			p.S175Y(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TTCTGTCGGAGAACTGCTTTG	0.428																																					p.S175Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C524A	4						.						85.0	83.0	84.0					4																	113199049		2203	4300	6503	113418498	SO:0001583	missense	92610	exon2			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.524C>A	4.37:g.113199049G>T	ENSP00000354911:p.Ser175Tyr		113418498	NM_052864		Missense_Mutation	SNP	ENST00000361717.3	37	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	G	0.477	-0.881771	0.02530	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	T;T	0.47528	0.84;0.84	5.79	-0.813	0.10850	.	0.977685	0.08433	N	0.946571	T	0.30759	0.0775	L	0.50333	1.59	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.31888	-0.9927	10	0.02654	T	1	-7.4476	2.3114	0.04187	0.487:0.1382:0.2483:0.1265	.	175	Q96CG3	TIFA_HUMAN	Y	175	ENSP00000354911:S175Y;ENSP00000424231:S175Y	ENSP00000354911:S175Y	S	-	2	0	TIFA	113418498	0.000000	0.05858	0.071000	0.20095	0.084000	0.17831	-0.903000	0.04084	0.081000	0.16988	-0.122000	0.15005	TCT		0.428	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864	
ZGRF1	55345	broad.mit.edu	37	4	113540617	113540617	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:113540617G>A	ENST00000505019.1	-	6	706	c.581C>T	c.(580-582)tCg>tTg	p.S194L	C4orf21_ENST00000445203.2_Missense_Mutation_p.S163L|C4orf21_ENST00000309071.5_Missense_Mutation_p.S194L	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		194						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S194L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGAAAAAACCGAAGAAAAATC	0.378																																					p.S194L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C581T	4						.						46.0	50.0	49.0					4																	113540617		2203	4300	6503	113760066	SO:0001583	missense	55345	exon6																														ENST00000505019.1:c.581C>T	4.37:g.113540617G>A	ENSP00000424737:p.Ser194Leu		113760066	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	G	10.91	1.483276	0.26598	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.82619	-1.63;1.88;1.43	5.17	1.85	0.25348	.	0.692713	0.12571	N	0.457291	T	0.71609	0.3360	L	0.49640	1.575	0.09310	N	1	B;B	0.30605	0.287;0.054	B;B	0.12837	0.008;0.007	T	0.53279	-0.8461	10	0.10377	T	0.69	-3.0928	8.2872	0.31935	0.421:0.0:0.579:0.0	.	194;194	Q86YA3;G5EA02	CD021_HUMAN;.	L	194;194;163	ENSP00000424737:S194L;ENSP00000309095:S194L;ENSP00000390505:S163L	ENSP00000309095:S194L	S	-	2	0	C4orf21	113760066	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	0.273000	0.18662	0.510000	0.28216	-0.218000	0.12543	TCG		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
UGT8	7368	broad.mit.edu	37	4	115544340	115544340	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:115544340G>A	ENST00000310836.6	+	2	826	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	UGT8_ENST00000394511.3_Missense_Mutation_p.E102K	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	102					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.E102K(3)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GACAGCAATCGAACTGTTTGA	0.463																																					p.E102K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G304A	4						.						147.0	144.0	145.0					4																	115544340		2203	4300	6503	115763789	SO:0001583	missense	7368	exon2			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.304G>A	4.37:g.115544340G>A	ENSP00000311648:p.Glu102Lys		115763789	NM_001128174	B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491704	0.84962	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.07688	3.17;3.17;3.17	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	N	0.17594	0.5	0.80722	D	1	P	0.34837	0.472	B	0.34824	0.19	T	0.47381	-0.9122	10	0.15499	T	0.54	.	19.0796	0.93177	0.0:0.0:1.0:0.0	.	102	Q16880	CGT_HUMAN	K	102	ENSP00000311648:E102K;ENSP00000421446:E102K;ENSP00000378019:E102K	ENSP00000311648:E102K	E	+	1	0	UGT8	115763789	1.000000	0.71417	0.941000	0.38009	0.974000	0.67602	7.614000	0.82996	2.590000	0.87494	0.650000	0.86243	GAA		0.463	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
PRSS12	8492	broad.mit.edu	37	4	119234410	119234410	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:119234410C>T	ENST00000296498.3	-	7	1717	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	479	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E479K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CTAACATCTTCGCGGTGGCTG	0.557																																					p.E479K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1435A	4						.						100.0	82.0	88.0					4																	119234410		2203	4300	6503	119453858	SO:0001583	missense	8492	exon7			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1435G>A	4.37:g.119234410C>T	ENSP00000296498:p.Glu479Lys		119453858	NM_003619	Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767335	0.90020	.	.	ENSG00000164099	ENST00000296498	T	0.36878	1.23	6.06	6.06	0.98353	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.044813	0.85682	D	0.000000	T	0.64159	0.2573	M	0.79011	2.435	0.51767	D	0.999939	D	0.76494	0.999	D	0.68621	0.959	T	0.64927	-0.6292	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	479	P56730	NETR_HUMAN	K	479	ENSP00000296498:E479K	ENSP00000296498:E479K	E	-	1	0	PRSS12	119453858	1.000000	0.71417	0.904000	0.35570	0.571000	0.35966	4.951000	0.63610	2.880000	0.98712	0.650000	0.86243	GAA		0.557	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2		
SEC24D	9871	broad.mit.edu	37	4	119678885	119678885	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:119678885T>G	ENST00000280551.6	-	11	1650	c.1412A>C	c.(1411-1413)aAa>aCa	p.K471T	SEC24D_ENST00000429811.2_Missense_Mutation_p.K27T|SEC24D_ENST00000419654.2_Missense_Mutation_p.K27T|SEC24D_ENST00000379735.5_Missense_Mutation_p.K472T|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.K102T			O94855	SC24D_HUMAN	SEC24 family member D	471					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.K471T(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						CTTTGGAATTTTTTCCAGCAT	0.338																																					p.K471T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1412C	4						.						135.0	128.0	131.0					4																	119678885		2203	4300	6503	119898333	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.1412A>C	4.37:g.119678885T>G	ENSP00000280551:p.Lys471Thr		119898333	NM_014822	Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	4.973	0.180810	0.09443	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.87	-0.829	0.10796	Sec23/Sec24, trunk domain (1);	0.684240	0.15269	N	0.271324	T	0.57681	0.2070	L	0.33137	0.985	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.13407	0.002;0.009	T	0.39840	-0.9594	10	0.10377	T	0.69	-6.061	11.2996	0.49298	0.0:0.4768:0.0:0.5232	.	472;471	O94855-2;O94855	.;SC24D_HUMAN	T	471;472;27;102;27	ENSP00000280551:K471T;ENSP00000369059:K472T;ENSP00000409775:K27T;ENSP00000425491:K102T;ENSP00000388324:K27T	ENSP00000280551:K471T	K	-	2	0	SEC24D	119898333	0.013000	0.17824	0.001000	0.08648	0.261000	0.26267	0.912000	0.28597	-0.122000	0.11766	0.451000	0.29950	AAA		0.338	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
SYNPO2	171024	broad.mit.edu	37	4	119951019	119951019	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:119951019C>T	ENST00000429713.2	+	4	1271	c.1089C>T	c.(1087-1089)agC>agT	p.S363S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.S363S|SYNPO2_ENST00000307142.4_Silent_p.S363S	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	363						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.S363S(1)		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						GGAGTGAAAGCCTGTCAGAAA	0.428																																					p.S363S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089T	4						.						88.0	92.0	91.0					4																	119951019		2203	4300	6503	120170467	SO:0001819	synonymous_variant	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.1089C>T	4.37:g.119951019C>T			120170467	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851580	0.17034	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.88	2.25	0.28309	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48736	-0.9009	4	.	.	.	-21.3154	8.7407	0.34556	0.0:0.6445:0.0:0.3555	.	.	.	.	S	315	.	.	P	+	1	0	SYNPO2	120170467	0.610000	0.26983	0.728000	0.30774	0.970000	0.65996	0.236000	0.17967	0.113000	0.18004	-0.262000	0.10625	CCT		0.428	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
SYNPO2	171024	broad.mit.edu	37	4	119952404	119952404	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:119952404C>T	ENST00000429713.2	+	4	2656	c.2474C>T	c.(2473-2475)gCt>gTt	p.A825V	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.A825V|SYNPO2_ENST00000307142.4_Missense_Mutation_p.A825V	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	825						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.A825V(1)		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						TTGAACGTGGCTGGTCCCTTC	0.527																																					p.A825V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2474T	4						.						64.0	66.0	65.0					4																	119952404		2203	4300	6503	120171852	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.2474C>T	4.37:g.119952404C>T	ENSP00000395143:p.Ala825Val		120171852	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009794	0.35415	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.09445	2.98;3.0;3.0	5.76	5.76	0.90799	.	0.298816	0.28865	N	0.013887	T	0.12518	0.0304	L	0.51422	1.61	0.80722	D	1	B;B;B;P	0.39665	0.361;0.25;0.162;0.682	B;B;B;B	0.34489	0.054;0.184;0.09;0.172	T	0.04946	-1.0916	9	.	.	.	-4.1314	18.1401	0.89637	0.0:1.0:0.0:0.0	.	825;825;825;825	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	V	825	ENSP00000306015:A825V;ENSP00000395143:A825V;ENSP00000390965:A825V	.	A	+	2	0	SYNPO2	120171852	0.146000	0.22672	0.843000	0.33291	0.321000	0.28281	3.533000	0.53561	2.726000	0.93360	0.655000	0.94253	GCT		0.527	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
MYOZ2	51778	broad.mit.edu	37	4	120107311	120107311	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:120107311G>A	ENST00000307128.5	+	6	964	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_016599.4	NP_057683.1			myozenin 2									p.E251K(2)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GATAACAACCGAACCTACAGA	0.388																																					p.E251K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G751A	4						.						82.0	81.0	81.0					4																	120107311		2203	4300	6503	120326759	SO:0001583	missense	51778	exon6			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.751G>A	4.37:g.120107311G>A	ENSP00000306997:p.Glu251Lys		120326759	NM_016599		Missense_Mutation	SNP	ENST00000307128.5	37	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321895	0.60634	.	.	ENSG00000172399	ENST00000307128	T	0.66099	-0.19	5.83	4.99	0.66335	.	0.576964	0.18703	N	0.133537	T	0.46367	0.1389	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.29212	-1.0019	10	0.27785	T	0.31	-12.1498	10.7232	0.46052	0.0748:0.1683:0.7569:0.0	.	251	Q9NPC6	MYOZ2_HUMAN	K	251	ENSP00000306997:E251K	ENSP00000306997:E251K	E	+	1	0	MYOZ2	120326759	0.929000	0.31497	0.057000	0.19452	0.792000	0.44763	2.732000	0.47352	1.466000	0.48025	0.650000	0.86243	GAA		0.388	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2		
USP53	54532	broad.mit.edu	37	4	120213811	120213811	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:120213811T>C	ENST00000274030.6	+	19	3846	c.2667T>C	c.(2665-2667)tgT>tgC	p.C889C	USP53_ENST00000450251.1_Silent_p.C889C	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.C888C(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						TGGATCAATGTTACTTTGAGA	0.418																																					p.C889C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2667C	4						.						79.0	72.0	74.0					4																	120213811		1888	4105	5993	120433259	SO:0001819	synonymous_variant	54532	exon18			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.2667T>C	4.37:g.120213811T>C			120433259	NM_019050		Silent	SNP	ENST00000274030.6	37	CCDS43265.1																																																																																				0.418	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A	rs182361575	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R577W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17657	0.001		0.0	False		,,,				2504	0.0				p.R525W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1573T	4						.						126.0	118.0	121.0					4																	120446754		2203	4300	6503	120666202	SO:0001583	missense	8654	exon12			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1729C>T	4.37:g.120446754G>A	ENSP00000347046:p.Arg577Trp		120666202	NM_033437	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	18.97	3.734815	0.69189	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.50277	0.75;0.75;0.75	5.06	4.21	0.49690	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.115584	0.64402	D	0.000010	T	0.72961	0.3526	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77991	-0.2379	10	0.72032	D	0.01	.	17.7073	0.88312	0.0:0.0:0.8745:0.1255	.	577;535	O76074;O76074-2	PDE5A_HUMAN;.	W	577;525;535	ENSP00000347046:R577W;ENSP00000377957:R525W;ENSP00000264805:R535W	ENSP00000264805:R535W	R	-	1	2	PDE5A	120666202	1.000000	0.71417	0.991000	0.47740	0.884000	0.51177	8.023000	0.88764	0.543000	0.28864	-0.808000	0.03180	CGG		0.448	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	
PDE5A	8654	broad.mit.edu	37	4	120527935	120527935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:120527935C>A	ENST00000354960.3	-	2	989	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	PDE5A_ENST00000264805.5_Nonsense_Mutation_p.E182*|PDE5A_ENST00000394439.1_Nonsense_Mutation_p.E172*	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	224	GAF 1.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E224*(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TTGTTCCATTCTAAGCGGATA	0.463																																					p.E172X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G514T	4						.						147.0	141.0	143.0					4																	120527935		2203	4300	6503	120747383	SO:0001587	stop_gained	8654	exon2			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.670G>T	4.37:g.120527935C>A	ENSP00000347046:p.Glu224*		120747383	NM_033437	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Nonsense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	39	7.396548	0.98258	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	.	.	.	5.46	3.73	0.42828	.	0.456386	0.24041	N	0.042083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	11.0893	0.48106	0.0:0.8014:0.1291:0.0695	.	.	.	.	X	224;172;182;172	.	ENSP00000264805:E182X	E	-	1	0	PDE5A	120747383	1.000000	0.71417	0.024000	0.17045	0.990000	0.78478	7.777000	0.85628	0.673000	0.31224	0.655000	0.94253	GAA		0.463	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	
MAD2L1	4085	broad.mit.edu	37	4	120981337	120981337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:120981337G>T	ENST00000296509.6	-	5	893	c.554C>A	c.(553-555)tCa>tAa	p.S185*		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	185	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.S185*(1)		breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						AGTAGTAAATGAACGAAGGCG	0.378																																					p.S185X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C554A	4						.						125.0	120.0	122.0					4																	120981337		2203	4300	6503	121200785	SO:0001587	stop_gained	4085	exon5			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.554C>A	4.37:g.120981337G>T	ENSP00000296509:p.Ser185*		121200785	NM_002358	Q53F56|Q548X9|Q6IRW7|Q8IZX3	Nonsense_Mutation	SNP	ENST00000296509.6	37	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937151	0.98571	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	5.13	0.70059	.	0.058476	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1129	18.9343	0.92579	0.0:0.0:1.0:0.0	.	.	.	.	X	185	.	ENSP00000296509:S185X	S	-	2	0	MAD2L1	121200785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.234000	0.95347	2.542000	0.85734	0.591000	0.81541	TCA		0.378	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2		
NDNF	79625	broad.mit.edu	37	4	121957538	121957538	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:121957538C>T	ENST00000379692.4	-	4	2114	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	530	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.E530K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTAATTGTTTCTGTGGTCACT	0.418																																					p.E530K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1588A	4						.						138.0	134.0	135.0					4																	121957538		2203	4300	6503	122176988	SO:0001583	missense	79625	exon4			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1588G>A	4.37:g.121957538C>T	ENSP00000369014:p.Glu530Lys		122176988	NM_024574	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209810	0.79240	.	.	ENSG00000173376	ENST00000379692	T	0.53206	0.63	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.55834	1.745	0.80722	D	1	D	0.61080	0.989	P	0.54499	0.754	T	0.60281	-0.7294	10	0.66056	D	0.02	-45.9291	20.5568	0.99304	0.0:1.0:0.0:0.0	.	530	Q8TB73	NDNF_HUMAN	K	530	ENSP00000369014:E530K	ENSP00000369014:E530K	E	-	1	0	NDNF	122176988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.861000	0.98227	0.655000	0.94253	GAA		0.418	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574	
QRFPR	84109	broad.mit.edu	37	4	122254055	122254055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:122254055C>A	ENST00000394427.2	-	4	1129	c.718G>T	c.(718-720)Gaa>Taa	p.E240*	QRFPR_ENST00000334383.5_Intron	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	240				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). {ECO:0000305}.	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)|neuropeptide Y receptor activity (GO:0004983)	p.E240*(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATCCAAAGTTCATAACCAATT	0.403																																					p.E240X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G718T	4						.						103.0	98.0	100.0					4																	122254055		2203	4300	6503	122473505	SO:0001587	stop_gained	84109	exon4			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.718G>T	4.37:g.122254055C>A	ENSP00000377948:p.Glu240*		122473505	NM_198179		Nonsense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	41	8.938367	0.99010	.	.	ENSG00000186867	ENST00000394427	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	240	.	ENSP00000377948:E240X	E	-	1	0	QRFPR	122473505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.941000	0.99782	0.655000	0.94253	GAA		0.403	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
FAT4	79633	broad.mit.edu	37	4	126240523	126240523	+	Missense_Mutation	SNP	T	T	C	rs192514171		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:126240523T>C	ENST00000394329.3	+	1	2970	c.2957T>C	c.(2956-2958)gTc>gCc	p.V986A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	986	Cadherin 9. {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.V986A(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						ACAGTTTATGTCCATGATGTA	0.438																																					p.V986A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2957C	4						.						106.0	103.0	104.0					4																	126240523		1950	4141	6091	126459973	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.2957T>C	4.37:g.126240523T>C	ENSP00000377862:p.Val986Ala		126459973	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819748	0.50633	.	.	ENSG00000196159	ENST00000394329	T	0.68181	-0.31	5.0	5.0	0.66597	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31246	U	0.007984	D	0.86360	0.5914	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90316	0.4341	10	0.87932	D	0	.	14.9061	0.70721	0.0:0.0:0.0:1.0	.	986	Q6V0I7	FAT4_HUMAN	A	986	ENSP00000377862:V986A	ENSP00000377862:V986A	V	+	2	0	FAT4	126459973	1.000000	0.71417	0.997000	0.53966	0.606000	0.37113	7.708000	0.84633	2.100000	0.63781	0.533000	0.62120	GTC		0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126242127	126242127	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:126242127G>A	ENST00000394329.3	+	1	4574	c.4561G>A	c.(4561-4563)Gac>Aac	p.D1521N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1521	Cadherin 14. {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.D1521N(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						TTTGGTTACAGACCTCAATGA	0.418																																					p.D1521N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4561A	4						.						165.0	152.0	156.0					4																	126242127		1950	4150	6100	126461577	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.4561G>A	4.37:g.126242127G>A	ENSP00000377862:p.Asp1521Asn		126461577	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906149	0.92107	.	.	ENSG00000196159	ENST00000394329	T	0.75050	-0.9	4.67	4.67	0.58626	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.35495	U	0.003177	D	0.88138	0.6356	M	0.90145	3.09	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.88962	0.3394	10	0.42905	T	0.14	.	18.1238	0.89580	0.0:0.0:1.0:0.0	.	1521	Q6V0I7	FAT4_HUMAN	N	1521	ENSP00000377862:D1521N	ENSP00000377862:D1521N	D	+	1	0	FAT4	126461577	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.398000	0.97281	2.593000	0.87608	0.655000	0.94253	GAC		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126371536	126371536	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:126371536G>A	ENST00000394329.3	+	9	9378	c.9365G>A	c.(9364-9366)gGc>gAc	p.G3122D	FAT4_ENST00000335110.5_Missense_Mutation_p.G1420D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3122	Cadherin 30. {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.G3122D(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						GCGATGAATGGCTTGATTAAG	0.408																																					p.G3122D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9365A	4						.						70.0	68.0	69.0					4																	126371536		2203	4300	6503	126590986	SO:0001583	missense	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.9365G>A	4.37:g.126371536G>A	ENSP00000377862:p.Gly3122Asp		126590986	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939317	0.52972	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.06218	3.33;3.33	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.34828	U	0.003642	T	0.30103	0.0754	M	0.81614	2.55	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	0.01578	-1.1320	10	0.87932	D	0	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	1420;3122;3122	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	D	3122;1420	ENSP00000377862:G3122D;ENSP00000335169:G1420D	ENSP00000335169:G1420D	G	+	2	0	FAT4	126590986	1.000000	0.71417	0.967000	0.41034	0.103000	0.19146	9.666000	0.98612	2.652000	0.90054	0.655000	0.94253	GGC		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126372821	126372821	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:126372821C>T	ENST00000394329.3	+	9	10663	c.10650C>T	c.(10648-10650)agC>agT	p.S3550S	FAT4_ENST00000335110.5_Silent_p.S1848S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3550	Cadherin 34. {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.S3550S(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						ACTTGCTGAGCACAGGTCCTG	0.488																																					p.S3550S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C10650T	4						.						118.0	119.0	118.0					4																	126372821		2203	4300	6503	126592271	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.10650C>T	4.37:g.126372821C>T			126592271	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126373647	126373647	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:126373647G>A	ENST00000394329.3	+	9	11489	c.11476G>A	c.(11476-11478)Gta>Ata	p.V3826I	FAT4_ENST00000335110.5_Missense_Mutation_p.V2124I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3826	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.V3826I(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						TGTGAGCTCCGTATTAAAAAG	0.507																																					p.V3826I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G11476A	4						.						85.0	85.0	85.0					4																	126373647		2203	4300	6503	126593097	SO:0001583	missense	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.11476G>A	4.37:g.126373647G>A	ENSP00000377862:p.Val3826Ile		126593097	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	5.482	0.274038	0.10403	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74947	-0.75;-0.89	5.47	-2.21	0.06973	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	2.042920	0.04412	U	0.366239	T	0.50377	0.1612	N	0.08118	0	0.09310	N	1	B;B;B	0.20780	0.048;0.014;0.019	B;B;B	0.16289	0.015;0.004;0.006	T	0.33137	-0.9880	10	0.36615	T	0.2	.	3.5546	0.07860	0.4709:0.1045:0.318:0.1065	.	2124;3826;3826	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	3826;2124	ENSP00000377862:V3826I;ENSP00000335169:V2124I	ENSP00000335169:V2124I	V	+	1	0	FAT4	126593097	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.443000	0.06862	-0.152000	0.11156	-0.221000	0.12465	GTA		0.507	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
INTU	27152	broad.mit.edu	37	4	128584612	128584612	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:128584612A>G	ENST00000335251.6	+	4	948	c.845A>G	c.(844-846)aAc>aGc	p.N282S	INTU_ENST00000296461.5_Missense_Mutation_p.N282S	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	282					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.N282S(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						ACACAGTCCAACACAAGTGAT	0.393																																					p.N282S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A845G	4						.						126.0	126.0	126.0					4																	128584612		2203	4300	6503	128804062	SO:0001583	missense	27152	exon4			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.845A>G	4.37:g.128584612A>G	ENSP00000334003:p.Asn282Ser		128804062	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.759536	0.00657	.	.	ENSG00000164066	ENST00000335251;ENST00000296461	T	0.41400	1.0	4.74	-0.723	0.11181	.	0.665350	0.15424	N	0.263096	T	0.08133	0.0203	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39482	-0.9612	10	0.02654	T	1	-4.4966	5.4886	0.16763	0.377:0.2294:0.3936:0.0	.	282	Q9ULD6	PDZD6_HUMAN	S	282	ENSP00000296461:N282S	ENSP00000296461:N282S	N	+	2	0	INTU	128804062	0.220000	0.23631	0.002000	0.10522	0.333000	0.28666	1.176000	0.31957	0.085000	0.17107	0.477000	0.44152	AAC		0.393	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
SLC25A31	83447	broad.mit.edu	37	4	128694649	128694649	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:128694649C>T	ENST00000281154.4	+	6	1036	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	290					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.R290C(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAATGTTCTTCGCGGTACAGG	0.383																																					p.R290C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868T	4						.						155.0	147.0	150.0					4																	128694649		2203	4300	6503	128914099	SO:0001583	missense	83447	exon6			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.868C>T	4.37:g.128694649C>T	ENSP00000281154:p.Arg290Cys		128914099	NM_031291		Missense_Mutation	SNP	ENST00000281154.4	37	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721469	0.68959	.	.	ENSG00000151475	ENST00000281154	D	0.82167	-1.58	5.52	4.65	0.58169	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000021	D	0.92753	0.7696	M	0.93898	3.47	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.93688	0.7004	10	0.87932	D	0	-23.25	13.4549	0.61193	0.2737:0.7263:0.0:0.0	.	290	Q9H0C2	ADT4_HUMAN	C	290	ENSP00000281154:R290C	ENSP00000281154:R290C	R	+	1	0	SLC25A31	128914099	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.119000	0.31258	2.871000	0.98454	0.637000	0.83480	CGC		0.383	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
PLK4	10733	broad.mit.edu	37	4	128814700	128814700	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:128814700A>C	ENST00000270861.5	+	12	2629	c.2355A>C	c.(2353-2355)atA>atC	p.I785I	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000514379.1_Silent_p.I744I|PLK4_ENST00000507249.1_Silent_p.I724I|PLK4_ENST00000515069.1_Silent_p.I707I|PLK4_ENST00000513090.1_Silent_p.I753I	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	785					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.I785I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TGGAATCCATAATTTCAGAAG	0.328																																					p.I744I	Colon(135;508 1718 19061 31832 42879)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2232C	4						.						78.0	82.0	81.0					4																	128814700		2203	4300	6503	129034150	SO:0001819	synonymous_variant	10733	exon12			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.2355A>C	4.37:g.128814700A>C			129034150	NM_001190801	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	CCDS3735.1																																																																																				0.328	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
BOD1L1	259282	broad.mit.edu	37	4	13610232	13610232	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:13610232C>A	ENST00000040738.5	-	8	1799	c.1664G>T	c.(1663-1665)aGa>aTa	p.R555I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	555	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R555I(1)									TTCTTTAATTCTGGCGGCTTT	0.333																																					p.R555I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1664T	4						.						50.0	48.0	48.0					4																	13610232		2202	4297	6499	13219330	SO:0001583	missense	259282	exon8			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1664G>T	4.37:g.13610232C>A	ENSP00000040738:p.Arg555Ile		13219330	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992286	0.74703	.	.	ENSG00000038219	ENST00000040738	T	0.09255	3.0	5.54	4.68	0.58851	.	0.289673	0.25172	N	0.032588	T	0.20659	0.0497	L	0.60455	1.87	0.38940	D	0.958138	D	0.56968	0.978	P	0.52267	0.694	T	0.02352	-1.1172	10	0.39692	T	0.17	-0.6639	14.6119	0.68522	0.0:0.8543:0.1457:0.0	.	555	Q8NFC6	BOD1L_HUMAN	I	555	ENSP00000040738:R555I	ENSP00000040738:R555I	R	-	2	0	BOD1L	13219330	1.000000	0.71417	0.808000	0.32385	0.910000	0.53928	3.597000	0.54031	1.308000	0.44962	0.650000	0.86243	AGA		0.333	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
JADE1	79960	broad.mit.edu	37	4	129764115	129764115	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:129764115A>G	ENST00000226319.6	+	3	340	c.60A>G	c.(58-60)tcA>tcG	p.S20S	PHF17_ENST00000452328.2_Silent_p.S20S|PHF17_ENST00000511647.1_Silent_p.S20S|PHF17_ENST00000413543.2_Silent_p.S20S|PHF17_ENST00000512960.1_Silent_p.S20S	NM_199320.2	NP_955352.1												p.S20S(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TAGGCCTGTCAACTACTTGGT	0.463																																					p.S20S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A60G	4						.						134.0	127.0	129.0					4																	129764115		2203	4300	6503	129983565	SO:0001819	synonymous_variant	79960	exon3																														ENST00000226319.6:c.60A>G	4.37:g.129764115A>G			129983565	NM_199320		Silent	SNP	ENST00000226319.6	37	CCDS34062.1																																																																																				0.463	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1		
PCDH10	57575	broad.mit.edu	37	4	134071835	134071835	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:134071835C>T	ENST00000264360.5	+	1	1366	c.540C>T	c.(538-540)ttC>ttT	p.F180F	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	180	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.F180F(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAACCGATTCGCTGAGCTGG	0.642																																					p.F180F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C540T	4						.						53.0	49.0	50.0					4																	134071835		2202	4300	6502	134291285	SO:0001819	synonymous_variant	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.540C>T	4.37:g.134071835C>T			134291285	NM_032961	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																				0.642	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH18	54510	broad.mit.edu	37	4	138452136	138452136	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:138452136A>C	ENST00000344876.4	-	1	1493	c.1107T>G	c.(1105-1107)atT>atG	p.I369M	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.I369M|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.I149M	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	369	Cadherin 4. {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.I369M(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)					CCCCTTCAAAAATATAAGATA	0.358																																					p.I369M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1107G	4						.						44.0	47.0	46.0					4																	138452136		2203	4300	6503	138671586	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.1107T>G	4.37:g.138452136A>C	ENSP00000355082:p.Ile369Met		138671586	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.875980	0.51695	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.45276	0.9;0.9;0.9	5.92	-5.14	0.02875	Cadherin (2);Cadherin-like (1);	0.556823	0.14659	N	0.306085	T	0.55305	0.1912	M	0.87097	2.86	0.80722	D	1	P;P;P	0.36577	0.458;0.558;0.557	P;P;P	0.53224	0.698;0.721;0.706	T	0.63359	-0.6655	10	0.87932	D	0	.	5.8695	0.18795	0.3319:0.1022:0.4662:0.0998	.	149;369;369	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	M	369;369;149	ENSP00000355082:I369M;ENSP00000390688:I369M;ENSP00000425903:I149M	ENSP00000355082:I369M	I	-	3	3	PCDH18	138671586	0.236000	0.23804	0.401000	0.26359	0.927000	0.56198	-0.169000	0.09911	-0.697000	0.05092	0.455000	0.32223	ATT		0.358	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
MGARP	84709	broad.mit.edu	37	4	140188116	140188116	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:140188116T>C	ENST00000398955.1	-	4	539	c.360A>G	c.(358-360)gtA>gtG	p.V120V		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	120					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)		p.V120V(1)									CTTCAGCATCTACCACCTCAG	0.478																																					p.V120V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A360G	4						.						167.0	161.0	163.0					4																	140188116		1987	4173	6160	140407566	SO:0001819	synonymous_variant	84709	exon4			AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"""ovary-specific acidic protein"", ""corneal endothelium-specific protein 1"", ""hypoxia up-regulated mitochondrial movement regulator"""		"""chromosome 4 open reading frame 49"""	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.360A>G	4.37:g.140188116T>C			140407566	NM_032623	Q9BZC3	Silent	SNP	ENST00000398955.1	37	CCDS43269.1																																																																																				0.478	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623	
TBC1D9	23158	broad.mit.edu	37	4	141580759	141580759	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:141580759T>C	ENST00000442267.2	-	11	1978	c.1904A>G	c.(1903-1905)tAc>tGc	p.Y635C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	635	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.Y635C(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCTGGTGTTGTAGTAATCTGG	0.458																																					p.Y635C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1904G	4						.						58.0	59.0	59.0					4																	141580759		2054	4210	6264	141800209	SO:0001583	missense	23158	exon11			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1904A>G	4.37:g.141580759T>C	ENSP00000411197:p.Tyr635Cys		141800209	NM_015130	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.255402	0.80135	.	.	ENSG00000109436	ENST00000442267	T	0.15017	2.46	5.62	5.62	0.85841	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76509	-0.2933	10	0.87932	D	0	.	15.8388	0.78824	0.0:0.0:0.0:1.0	.	635	Q6ZT07	TBCD9_HUMAN	C	635	ENSP00000411197:Y635C	ENSP00000411197:Y635C	Y	-	2	0	TBC1D9	141800209	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.040000	0.89188	2.129000	0.65627	0.533000	0.62120	TAC		0.458	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
RNF150	57484	broad.mit.edu	37	4	141888828	141888828	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:141888828G>T	ENST00000515673.2	-	2	717	c.684C>A	c.(682-684)gtC>gtA	p.V228V	RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000379512.2_Silent_p.V87V|RNF150_ENST00000420921.2_Silent_p.V87V|RNF150_ENST00000507500.1_Silent_p.V228V			Q9ULK6	RN150_HUMAN	ring finger protein 150	228						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V137V(1)|p.V228V(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGTAATAAAAGACGAGCCATG	0.408																																					p.V228V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C684A	4						.						109.0	104.0	106.0					4																	141888828		2203	4300	6503	142108278	SO:0001819	synonymous_variant	57484	exon2			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.684C>A	4.37:g.141888828G>T			142108278	NM_020724	Q3T1D0|Q6ZNW6	Silent	SNP	ENST00000515673.2	37	CCDS34065.1																																																																																				0.408	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
RNF150	57484	broad.mit.edu	37	4	141888889	141888889	+	Missense_Mutation	SNP	G	G	A	rs267600025		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:141888889G>A	ENST00000515673.2	-	2	656	c.623C>T	c.(622-624)tCg>tTg	p.S208L	RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000379512.2_Missense_Mutation_p.S67L|RNF150_ENST00000420921.2_Missense_Mutation_p.S67L|RNF150_ENST00000507500.1_Missense_Mutation_p.S208L			Q9ULK6	RN150_HUMAN	ring finger protein 150	208						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S208L(2)|p.S117L(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AAACACAACCGAAGTGCGGCT	0.463																																					p.S208L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C623T	4						.						248.0	222.0	231.0					4																	141888889		2203	4300	6503	142108339	SO:0001583	missense	57484	exon2			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.623C>T	4.37:g.141888889G>A	ENSP00000425840:p.Ser208Leu		142108339	NM_020724	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587648	0.96590	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T	0.16597	2.33;2.33;3.2;3.22;2.39	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.981;0.995	T	0.18777	-1.0326	10	0.38643	T	0.18	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	208;208	Q9ULK6-3;Q9ULK6	.;RN150_HUMAN	L	67;67;208;208;39	ENSP00000368827:S67L;ENSP00000394581:S67L;ENSP00000425840:S208L;ENSP00000425568:S208L;ENSP00000425947:S39L	ENSP00000368827:S67L	S	-	2	0	RNF150	142108339	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	TCG		0.463	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
RNF150	57484	broad.mit.edu	37	4	142053545	142053545	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:142053545C>T	ENST00000515673.2	-	1	451	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	RNF150_ENST00000306799.3_Missense_Mutation_p.A140T|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.A140T			Q9ULK6	RN150_HUMAN	ring finger protein 150	140	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A49T(1)|p.A140T(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACGGCTGAGGCGTTCTGCAGG	0.652																																					p.A140T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G418A	4						.						51.0	40.0	44.0					4																	142053545		2203	4300	6503	142272995	SO:0001583	missense	57484	exon1			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.418G>A	4.37:g.142053545C>T	ENSP00000425840:p.Ala140Thr		142272995	NM_020724	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020812	0.93462	.	.	ENSG00000170153	ENST00000306799;ENST00000515673;ENST00000507500	T;T;T	0.20332	2.08;2.08;2.08	4.69	4.69	0.59074	Protease-associated domain, PA (1);	0.136740	0.49916	D	0.000138	T	0.60470	0.2271	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.968;0.999;0.981	T	0.74300	-0.3710	10	0.59425	D	0.04	.	18.0066	0.89211	0.0:1.0:0.0:0.0	.	140;140;140	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	T	140	ENSP00000304321:A140T;ENSP00000425840:A140T;ENSP00000425568:A140T	ENSP00000304321:A140T	A	-	1	0	RNF150	142272995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.802000	0.69122	2.338000	0.79540	0.455000	0.32223	GCC		0.652	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
INPP4B	8821	broad.mit.edu	37	4	143029297	143029297	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:143029297C>T	ENST00000513000.1	-	24	2756	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	INPP4B_ENST00000308502.4_Missense_Mutation_p.E775K|INPP4B_ENST00000508116.1_Missense_Mutation_p.E775K|INPP4B_ENST00000262992.4_Missense_Mutation_p.E775K|INPP4B_ENST00000509777.1_Missense_Mutation_p.E775K	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	775					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.E775K(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)					TGTAGAAGTTCGAAGTTTTCC	0.323																																					p.E775K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2323A	4						.						83.0	86.0	85.0					4																	143029297		2202	4299	6501	143248747	SO:0001583	missense	8821	exon24			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.2323G>A	4.37:g.143029297C>T	ENSP00000425487:p.Glu775Lys		143248747	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508602	0.64410	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.33865	1.81;1.81;1.81;1.81;1.8;1.81;1.4;1.39	5.63	5.63	0.86233	.	0.054405	0.64402	D	0.000001	T	0.33177	0.0854	L	0.36672	1.1	0.54753	D	0.999987	D	0.54601	0.967	P	0.44860	0.462	T	0.02676	-1.1125	10	0.20519	T	0.43	.	16.682	0.85295	0.0:0.8707:0.1293:0.0	.	775	O15327	INP4B_HUMAN	K	775;775;775;646;775;775;590;590;775;646	ENSP00000425487:E775K;ENSP00000262992:E775K;ENSP00000308441:E775K;ENSP00000423954:E775K;ENSP00000422793:E775K;ENSP00000426207:E590K;ENSP00000427250:E775K;ENSP00000421065:E646K	ENSP00000262992:E775K	E	-	1	0	INPP4B	143248747	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.294000	0.51787	2.641000	0.89580	0.650000	0.86243	GAA		0.323	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
INPP4B	8821	broad.mit.edu	37	4	143114280	143114280	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:143114280G>A	ENST00000513000.1	-	16	1574	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	INPP4B_ENST00000308502.4_Missense_Mutation_p.L381F|INPP4B_ENST00000508116.1_Missense_Mutation_p.L381F|INPP4B_ENST00000262992.4_Missense_Mutation_p.L381F|INPP4B_ENST00000509777.1_Missense_Mutation_p.L381F	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	381					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.L381F(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)					AGCTTCCGAAGACCACCATTC	0.438																																					p.L381F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1141T	4						.						141.0	148.0	146.0					4																	143114280		2203	4300	6503	143333730	SO:0001583	missense	8821	exon16			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.1141C>T	4.37:g.143114280G>A	ENSP00000425487:p.Leu381Phe		143333730	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354963	0.61293	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.92	5.08	0.68730	.	0.132413	0.52532	N	0.000076	T	0.45316	0.1336	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.89917	0.997;1.0	D;D	0.77004	0.913;0.989	T	0.46470	-0.9189	10	0.87932	D	0	.	13.4516	0.61174	0.0722:0.0:0.9278:0.0	.	252;381	B7Z6T2;O15327	.;INP4B_HUMAN	F	381;381;381;252;381;381;196;196;381;252	ENSP00000425487:L381F;ENSP00000262992:L381F;ENSP00000308441:L381F;ENSP00000423954:L381F;ENSP00000422793:L381F;ENSP00000426207:L196F;ENSP00000427250:L381F;ENSP00000421065:L252F	ENSP00000262992:L381F	L	-	1	0	INPP4B	143333730	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	9.096000	0.94182	1.518000	0.48934	-0.140000	0.14226	CTT		0.438	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
GAB1	2549	broad.mit.edu	37	4	144359241	144359241	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:144359241G>A	ENST00000262994.4	+	4	985	c.683G>A	c.(682-684)aGc>aAc	p.S228N	GAB1_ENST00000505913.1_Missense_Mutation_p.S125N|GAB1_ENST00000262995.4_Missense_Mutation_p.S228N	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	228					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.S228N(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)					TCCTCCCAGAGCAAACATGGA	0.428																																					p.S228N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G683A	4						.						79.0	77.0	78.0					4																	144359241		2203	4300	6503	144578691	SO:0001583	missense	2549	exon4			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.683G>A	4.37:g.144359241G>A	ENSP00000262994:p.Ser228Asn		144578691	NM_207123	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826463	0.32329	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.18338	2.73;2.73;2.22	5.44	4.6	0.57074	.	0.237373	0.51477	D	0.000097	T	0.15132	0.0365	L	0.54323	1.7	0.34977	D	0.753728	B;B	0.11235	0.001;0.004	B;B	0.09377	0.001;0.004	T	0.15752	-1.0426	10	0.12430	T	0.62	-9.046	9.7224	0.40311	0.1579:0.0:0.8421:0.0	.	228;228	Q13480;Q13480-2	GAB1_HUMAN;.	N	228;228;125	ENSP00000262995:S228N;ENSP00000262994:S228N;ENSP00000424554:S125N	ENSP00000262994:S228N	S	+	2	0	GAB1	144578691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.753000	0.55180	1.306000	0.44926	0.650000	0.86243	AGC		0.428	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039	
SMARCA5	8467	broad.mit.edu	37	4	144465117	144465117	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:144465117A>C	ENST00000283131.3	+	16	2626	c.2164A>C	c.(2164-2166)Aaa>Caa	p.K722Q		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	722					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.K722Q(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)					CTATAGAGAAAAACAAAAGGT	0.318																																					p.K722Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2164C	4						.						45.0	48.0	47.0					4																	144465117		2203	4298	6501	144684567	SO:0001583	missense	8467	exon16			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.2164A>C	4.37:g.144465117A>C	ENSP00000283131:p.Lys722Gln		144684567	NM_003601		Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387576	0.82902	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91577	-2.87	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	M	0.86178	2.8	0.58432	D	0.999994	P	0.34587	0.458	B	0.32465	0.146	D	0.89503	0.3765	10	0.44086	T	0.13	-0.3298	11.5012	0.50439	0.928:0.0:0.072:0.0	.	722	O60264	SMCA5_HUMAN	Q	722;665;665	ENSP00000283131:K722Q	ENSP00000283131:K722Q	K	+	1	0	SMARCA5	144684567	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.862000	0.92283	2.092000	0.63282	0.482000	0.46254	AAA		0.318	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
MMAA	166785	broad.mit.edu	37	4	146576305	146576305	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:146576305C>T	ENST00000281317.5	+	7	2186	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	MMAA_ENST00000541599.1_Missense_Mutation_p.R45C	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	326					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.R326C(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)	ATAGGTAATTCGTATTTCTGC	0.423																																					p.R326C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C976T	4						.						54.0	55.0	55.0					4																	146576305		2203	4300	6503	146795755	SO:0001583	missense	166785	exon7			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.976C>T	4.37:g.146576305C>T	ENSP00000281317:p.Arg326Cys		146795755	NM_172250	B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309160	0.81247	.	.	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	D;D	0.90900	-2.75;-2.75	5.74	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.94937	0.8088	10	0.49607	T	0.09	-13.2045	14.7177	0.69284	0.0:0.9307:0.0:0.0693	.	326	Q8IVH4	MMAA_HUMAN	C	326;326;45	ENSP00000281317:R326C;ENSP00000442284:R45C	ENSP00000281317:R326C	R	+	1	0	MMAA	146795755	1.000000	0.71417	0.894000	0.35097	0.850000	0.48378	7.456000	0.80751	1.448000	0.47680	-0.229000	0.12294	CGT		0.423	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
ARHGAP10	79658	broad.mit.edu	37	4	148796176	148796176	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:148796176G>A	ENST00000336498.3	+	8	946	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R236Q(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTCAGACACGGAATCGATTT	0.353																																					p.R236Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707A	4						.						86.0	82.0	83.0					4																	148796176		2203	4300	6503	149015626	SO:0001583	missense	79658	exon8			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.707G>A	4.37:g.148796176G>A	ENSP00000336923:p.Arg236Gln		149015626	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126009	0.94429	.	.	ENSG00000071205	ENST00000336498	T	0.04862	3.54	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.13737	-1.0498	10	0.87932	D	0	.	17.9666	0.89101	0.0:0.0:1.0:0.0	.	236	A1A4S6	RHG10_HUMAN	Q	236	ENSP00000336923:R236Q	ENSP00000336923:R236Q	R	+	2	0	ARHGAP10	149015626	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.136000	0.94489	2.377000	0.81083	0.650000	0.86243	CGG		0.353	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
DCLK2	166614	broad.mit.edu	37	4	151160922	151160922	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:151160922C>A	ENST00000296550.7	+	11	2349	c.1595C>A	c.(1594-1596)tCt>tAt	p.S532Y	DCLK2_ENST00000506325.1_Missense_Mutation_p.S531Y|DCLK2_ENST00000302176.8_Missense_Mutation_p.S549Y	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S532Y(2)|p.S549Y(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGAACCAAGTCTTTGAAACTG	0.433																																					p.S532Y	GBM(195;186 2215 13375 16801 37459)											.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1595A	4						.						143.0	144.0	144.0					4																	151160922		2203	4300	6503	151380372	SO:0001583	missense	166614	exon11			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1595C>A	4.37:g.151160922C>A	ENSP00000296550:p.Ser532Tyr		151380372	NM_001040260	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880366	0.91740	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.39406	1.08;1.08;1.08	5.84	5.84	0.93424	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	0.54515	0.1863	N	0.25094	0.71	0.80722	D	1	P;D;P	0.76494	0.86;0.999;0.621	P;D;P	0.83275	0.561;0.996;0.593	T	0.57533	-0.7795	10	0.72032	D	0.01	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	549;531;532	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	Y	532;531;549	ENSP00000296550:S532Y;ENSP00000427235:S531Y;ENSP00000303887:S549Y	ENSP00000296550:S532Y	S	+	2	0	DCLK2	151380372	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	TCT		0.433	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	
PRSS48	345062	broad.mit.edu	37	4	152203338	152203338	+	Missense_Mutation	SNP	C	C	T	rs372652981		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:152203338C>T	ENST00000455694.2	+	3	256	c.254C>T	c.(253-255)tCg>tTg	p.S85L	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	85	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.S85L(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TGGCTAGGATCGATTACAGTA	0.488																																					p.S85L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254T	4						.	C	LEU/SER	0,3952		0,0,1976	273.0	252.0	259.0		254	2.8	0.4	4		259	1,8319		0,1,4159	no	missense	PRSS48	NM_183375.2	145	0,1,6135	TT,TC,CC		0.012,0.0,0.0081	benign	85/329	152203338	1,12271	1976	4160	6136	152422788	SO:0001583	missense	345062	exon3			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.254C>T	4.37:g.152203338C>T	ENSP00000401328:p.Ser85Leu		152422788	NM_183375	Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.64|10.64	1.405699|1.405699	0.25378|0.25378	0.0|0.0	1.2E-4|1.2E-4	ENSG00000189099|ENSG00000189099	ENST00000530477|ENST00000455694	.|D	.|0.89123	.|-2.47	3.64|3.64	2.8|2.8	0.32819|0.32819	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.543323	.|0.13983	.|N	.|0.349384	.|T	.|0.81009	.|0.4734	L|L	0.37750|0.37750	1.13|1.13	0.20307|0.20307	N|N	0.999914|0.999914	.|B	.|0.21753	.|0.06	.|B	.|0.22386	.|0.039	.|T	.|0.62937	.|-0.6748	.|10	.|0.10111	.|T	.|0.7	.|.	9.4218|9.4218	0.38557|0.38557	0.0:0.8922:0.0:0.1078|0.0:0.8922:0.0:0.1078	.|.	.|85	.|Q7RTY5	.|PRS48_HUMAN	X|L	68|85	.|ENSP00000401328:S85L	.|ENSP00000401328:S85L	R|S	+|+	1|2	2|0	PRSS48|PRSS48	152422788|152422788	0.071000|0.071000	0.21146|0.21146	0.447000|0.447000	0.26932|0.26932	0.083000|0.083000	0.17756|0.17756	0.971000|0.971000	0.29396|0.29396	1.122000|1.122000	0.41944|0.41944	0.313000|0.313000	0.20887|0.20887	CGA|TCG		0.488	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375	
FBXW7	55294	broad.mit.edu	37	4	153247244	153247244	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:153247244C>A	ENST00000281708.4	-	10	2787	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	FBXW7_ENST00000603841.1_Missense_Mutation_p.D520Y|FBXW7_ENST00000263981.5_Missense_Mutation_p.D440Y|FBXW7_ENST00000603548.1_Missense_Mutation_p.D520Y|FBXW7_ENST00000393956.3_Missense_Mutation_p.D344Y|FBXW7_ENST00000296555.5_Missense_Mutation_p.D402Y	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	520					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.D520N(3)|p.D520Y(2)|p.D440Y(1)|p.?(1)|p.D281Y(1)|p.D440N(1)|p.D281N(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACCATAAAATCATATGCTCCA	0.433			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.D440Y			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,large_intestine,colon,Substitution - Missense,0 	.	10	Substitution - Missense(9)|Unknown(1)	large_intestine(9)|haematopoietic_and_lymphoid_tissue(1)	c.G1318T	4						.						199.0	191.0	194.0					4																	153247244		2203	4300	6503	153466694	SO:0001583	missense	55294	exon9			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1558G>T	4.37:g.153247244C>A	ENSP00000281708:p.Asp520Tyr		153466694	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120206	0.77323	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.72	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043028	0.85682	N	0.000000	D	0.97213	0.9089	H	0.99590	4.645	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	0.99342	1.0912	10	0.87932	D	0	-22.8387	16.4274	0.83818	0.1326:0.8674:0.0:0.0	.	344;520;402;440	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Y	520;402;440;344	ENSP00000281708:D520Y;ENSP00000296555:D402Y;ENSP00000263981:D440Y;ENSP00000377528:D344Y	ENSP00000263981:D440Y	D	-	1	0	FBXW7	153466694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.744000	0.85034	1.533000	0.49186	-0.188000	0.12872	GAT		0.433	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	broad.mit.edu	37	4	153332456	153332456	+	Splice_Site	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:153332456T>G	ENST00000281708.4	-	2	1729	c.500A>C	c.(499-501)aAa>aCa	p.K167T	FBXW7_ENST00000603841.1_Splice_Site_p.K167T|FBXW7_ENST00000603548.1_Splice_Site_p.K167T|FBXW7_ENST00000604872.1_Missense_Mutation_p.K167T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	167					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.K167T(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TATACTCACTTTTGTTGTTTT	0.328			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.K167T			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A500C	4						.						92.0	85.0	88.0					4																	153332456		2203	4300	6503	153551906	SO:0001630	splice_region_variant	55294	exon2			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.501+1A>C	4.37:g.153332456T>G			153551906	NM_033632	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809022	0.31961	.	.	ENSG00000109670	ENST00000281708	T	0.54866	0.55	5.54	5.54	0.83059	.	0.069314	0.52532	D	0.000065	T	0.31575	0.0801	N	0.08118	0	0.80722	D	1	P	0.34522	0.455	B	0.29440	0.102	T	0.18777	-1.0326	10	0.25106	T	0.35	-23.9316	15.6888	0.77434	0.0:0.0:0.0:1.0	.	167	Q969H0	FBXW7_HUMAN	T	167	ENSP00000281708:K167T	ENSP00000281708:K167T	K	-	2	0	FBXW7	153551906	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.212000	0.65225	2.114000	0.64651	0.528000	0.53228	AAA		0.328	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		Missense_Mutation
FBXW7	55294	broad.mit.edu	37	4	153332915	153332915	+	Missense_Mutation	SNP	C	C	T	rs200698994		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:153332915C>T	ENST00000281708.4	-	2	1270	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	FBXW7_ENST00000603841.1_Missense_Mutation_p.R14Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R14Q|FBXW7_ENST00000604872.1_Missense_Mutation_p.R14Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	14					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R14Q(4)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCCTCCAGTTCGTCGTCTTTT	0.483			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R14Q			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G41A	4						.	C	GLN/ARG	0,4406		0,0,2203	87.0	76.0	80.0		41	5.7	1.0	4		80	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FBXW7	NM_033632.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	14/708	153332915	2,13004	2203	4300	6503	153552365	SO:0001583	missense	55294	exon2			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.41G>A	4.37:g.153332915C>T	ENSP00000281708:p.Arg14Gln		153552365	NM_033632	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396739	0.42512	0.0	2.33E-4	ENSG00000109670	ENST00000281708	T	0.62105	0.05	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000060	T	0.53658	0.1810	N	0.24115	0.695	0.80722	D	1	D;B	0.55800	0.973;0.029	B;B	0.43950	0.437;0.002	T	0.51529	-0.8694	10	0.28530	T	0.3	-4.8228	19.7677	0.96349	0.0:1.0:0.0:0.0	.	14;14	G0Z2K0;Q969H0	.;FBXW7_HUMAN	Q	14	ENSP00000281708:R14Q	ENSP00000281708:R14Q	R	-	2	0	FBXW7	153552365	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.507000	0.66999	2.668000	0.90789	0.650000	0.86243	CGA		0.483	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
TRIM2	23321	broad.mit.edu	37	4	154197054	154197054	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:154197054G>T	ENST00000437508.2	+	3	345	c.144G>T	c.(142-144)caG>caT	p.Q48H	TRIM2_ENST00000338700.5_Missense_Mutation_p.Q75H|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	48					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q48H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGTGCCTGCAGAACTACATTC	0.547																																					p.Q75H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	4						.						109.0	98.0	102.0					4																	154197054		2203	4300	6503	154416504	SO:0001583	missense	23321	exon3			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.144G>T	4.37:g.154197054G>T	ENSP00000415812:p.Gln48His		154416504	NM_015271	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935249	0.73442	.	.	ENSG00000109654	ENST00000441616;ENST00000437508;ENST00000338700	D;D;D	0.84800	-1.9;-1.9;-1.9	5.62	5.62	0.85841	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	L	0.33624	1.015	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.81914	0.995;0.992;0.992	D	0.89903	0.4046	10	0.66056	D	0.02	-13.7621	19.6676	0.95898	0.0:0.0:1.0:0.0	.	48;75;48	C9JVI3;D3DP09;Q9C040	.;.;TRIM2_HUMAN	H	48;48;75	ENSP00000400879:Q48H;ENSP00000415812:Q48H;ENSP00000339659:Q75H	ENSP00000339659:Q75H	Q	+	3	2	TRIM2	154416504	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.250000	0.65432	2.656000	0.90262	0.563000	0.77884	CAG		0.547	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
TRIM2	23321	broad.mit.edu	37	4	154216861	154216861	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:154216861G>A	ENST00000437508.2	+	6	1303	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	TRIM2_ENST00000338700.5_Missense_Mutation_p.E395K|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	368					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E368K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCTCACCGCCGAACTGAGCAC	0.592																																					p.E395K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1183A	4						.						79.0	77.0	78.0					4																	154216861		2203	4300	6503	154436311	SO:0001583	missense	23321	exon6			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1102G>A	4.37:g.154216861G>A	ENSP00000415812:p.Glu368Lys		154436311	NM_015271	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490698	0.84962	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84800	-1.9;-1.9	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.134780	0.64402	D	0.000003	T	0.79499	0.4456	L	0.45470	1.425	0.80722	D	1	P;P	0.52061	0.95;0.691	B;B	0.37550	0.253;0.082	T	0.77882	-0.2422	10	0.15066	T	0.55	-0.1027	19.2934	0.94112	0.0:0.0:1.0:0.0	.	395;368	D3DP09;Q9C040	.;TRIM2_HUMAN	K	368;395	ENSP00000415812:E368K;ENSP00000339659:E395K	ENSP00000339659:E395K	E	+	1	0	TRIM2	154436311	1.000000	0.71417	0.987000	0.45799	0.943000	0.58893	7.413000	0.80104	2.641000	0.89580	0.561000	0.74099	GAA		0.592	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
KIAA0922	23240	broad.mit.edu	37	4	154504740	154504740	+	Missense_Mutation	SNP	G	G	A	rs35565709		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:154504740G>A	ENST00000409663.3	+	11	1028	c.976G>A	c.(976-978)Gat>Aat	p.D326N	KIAA0922_ENST00000409959.3_Missense_Mutation_p.D326N|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D326N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	326						integral component of membrane (GO:0016021)		p.D178N(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTCACAGAGAGATGCTCTGTC	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		21430	0.0		0.001	False		,,,				2504	0.0				p.D326N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G976A	4						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	115.0	114.0	114.0		976,976	3.7	0.0	4	dbSNP_126	114	16,8584	11.9+/-42.8	0,16,4284	yes	missense,missense	KIAA0922	NM_001131007.1,NM_015196.3	23,23	0,16,6487	AA,AG,GG		0.186,0.0,0.123	benign,benign	326/1611,326/1610	154504740	16,12990	2203	4300	6503	154724190	SO:0001583	missense	23240	exon11			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.976G>A	4.37:g.154504740G>A	ENSP00000386574:p.Asp326Asn		154724190	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.590	0.884330	0.17467	0.0	0.00186	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19532	2.39;2.15;2.39;2.14	5.78	3.7	0.42460	.	0.551000	0.21224	N	0.078088	T	0.11452	0.0279	N	0.11560	0.145	0.09310	N	1	B;B;B	0.14805	0.005;0.008;0.011	B;B;B	0.16289	0.004;0.014;0.015	T	0.22068	-1.0227	10	0.66056	D	0.02	-1.261	8.6099	0.33795	0.2885:0.0:0.7115:0.0	rs35565709	326;326;326	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	N	326;326;326;187	ENSP00000386574:D326N;ENSP00000409663:D326N;ENSP00000386787:D326N;ENSP00000240487:D187N	ENSP00000240487:D187N	D	+	1	0	KIAA0922	154724190	0.177000	0.23109	0.007000	0.13788	0.893000	0.52053	1.476000	0.35420	0.507000	0.28148	0.655000	0.94253	GAT		0.373	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
KIAA0922	23240	broad.mit.edu	37	4	154524959	154524959	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:154524959A>C	ENST00000409663.3	+	25	2844	c.2792A>C	c.(2791-2793)aAt>aCt	p.N931T	KIAA0922_ENST00000409959.3_Missense_Mutation_p.N932T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N848T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	931						integral component of membrane (GO:0016021)		p.N784T(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTCAGAAGCAATTGCAAGAAC	0.423																																					p.N931T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2792C	4						.						44.0	47.0	46.0					4																	154524959		2203	4300	6503	154744409	SO:0001583	missense	23240	exon25			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2792A>C	4.37:g.154524959A>C	ENSP00000386574:p.Asn931Thr		154744409	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020772	0.35606	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.17691	2.53;2.26;2.53;2.26	5.71	-1.12	0.09808	.	0.260195	0.48767	N	0.000171	T	0.04724	0.0128	N	0.02011	-0.69	0.33919	D	0.640588	B;B;B	0.26363	0.147;0.022;0.013	B;B;B	0.27715	0.082;0.015;0.007	T	0.36672	-0.9738	10	0.20046	T	0.44	-10.0356	5.9284	0.19124	0.1972:0.3638:0.439:0.0	.	848;932;931	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	T	931;848;932;709	ENSP00000386574:N931T;ENSP00000409663:N848T;ENSP00000386787:N932T;ENSP00000240487:N709T	ENSP00000240487:N709T	N	+	2	0	KIAA0922	154744409	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	2.113000	0.41902	-0.130000	0.11599	0.533000	0.62120	AAT		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
DCHS2	54798	broad.mit.edu	37	4	155219658	155219658	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:155219658A>C	ENST00000357232.4	-	18	4442	c.4443T>G	c.(4441-4443)ctT>ctG	p.L1481L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1481	Cadherin 13. {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.L1481L(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)		ACTGGTAATAAAGTGTGGGAA	0.478																																					p.L1481L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4443G	4						.						147.0	152.0	150.0					4																	155219658		2203	4300	6503	155439108	SO:0001819	synonymous_variant	54798	exon18			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.4443T>G	4.37:g.155219658A>C			155439108	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.478	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
MAP9	79884	broad.mit.edu	37	4	156281509	156281509	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:156281509C>T	ENST00000311277.4	-	7	1124	c.861G>A	c.(859-861)gaG>gaA	p.E287E	AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Intron|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608762.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	287					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.E287E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAATGAATTCTCTTTATTTT	0.368																																					p.E287E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G861A	4						.						120.0	107.0	112.0					4																	156281509		2203	4299	6502	156500959	SO:0001819	synonymous_variant	79884	exon7			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.861G>A	4.37:g.156281509C>T			156500959	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	ENST00000311277.4	37	CCDS35493.1																																																																																				0.368	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	
GUCY1B3	2983	broad.mit.edu	37	4	156698713	156698713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:156698713G>T	ENST00000264424.8	+	4	298	c.216G>T	c.(214-216)aaG>aaT	p.K72N	GUCY1B3_ENST00000503520.1_Missense_Mutation_p.K72N|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.K4N|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.K52N|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.K72N|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.K4N|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.K4N	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	72					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.K72N(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)		TGTTTGGGAAGATGTTTTTCG	0.353																																					p.K72N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G216T	4						.						171.0	158.0	162.0					4																	156698713		1827	4077	5904	156918163	SO:0001583	missense	2983	exon4			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.216G>T	4.37:g.156698713G>T	ENSP00000264424:p.Lys72Asn		156918163	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.850055	0.32699	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.35	2.66	0.31614	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.048890	0.85682	D	0.000000	T	0.36054	0.0953	L	0.52364	1.645	0.42482	D	0.992866	B;B;B;B	0.24092	0.097;0.001;0.079;0.012	B;B;B;B	0.23018	0.043;0.005;0.025;0.027	T	0.18241	-1.0343	10	0.41790	T	0.15	.	4.7026	0.12834	0.295:0.0:0.5611:0.1439	.	52;72;72;72	B7Z426;E9PCN2;Q02153-2;Q02153	.;.;.;GCYB1_HUMAN	N	4;72;52;4;72;72;4	ENSP00000427226:K4N;ENSP00000426786:K72N;ENSP00000426319:K52N;ENSP00000422313:K4N;ENSP00000264424:K72N;ENSP00000420842:K72N;ENSP00000425065:K4N	ENSP00000264424:K72N	K	+	3	2	GUCY1B3	156918163	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.604000	0.46274	0.740000	0.32651	-0.218000	0.12543	AAG		0.353	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
ASIC5	51802	broad.mit.edu	37	4	156757891	156757891	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:156757891T>G	ENST00000537611.2	-	8	1231	c.1185A>C	c.(1183-1185)aaA>aaC	p.K395N		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	395					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.K395N(1)									ATTTCAAAGCTTTTTGACTTG	0.328																																					p.K395N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1185C	4						.						68.0	76.0	73.0					4																	156757891		2201	4299	6500	156977341	SO:0001583	missense	51802	exon8			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.1185A>C	4.37:g.156757891T>G	ENSP00000442477:p.Lys395Asn		156977341	NM_017419		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	T	0.063	-1.220128	0.01542	.	.	ENSG00000256394	ENST00000537611	T	0.63744	-0.06	4.8	-6.03	0.02185	.	1.869660	0.03257	N	0.182712	T	0.32406	0.0828	N	0.04018	-0.295	0.20196	N	0.99992	B	0.02656	0.0	B	0.12837	0.008	T	0.14448	-1.0472	10	0.16896	T	0.51	-4.3935	4.8955	0.13748	0.564:0.0625:0.0963:0.2772	.	395	Q9NY37	ACCN5_HUMAN	N	395	ENSP00000442477:K395N	ENSP00000264432:K395N	K	-	3	2	ACCN5	156977341	0.108000	0.22018	0.002000	0.10522	0.566000	0.35808	-0.710000	0.05024	-0.634000	0.05538	0.533000	0.62120	AAA		0.328	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		
GLRB	2743	broad.mit.edu	37	4	158091801	158091801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:158091801G>A	ENST00000264428.4	+	10	1685	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000512619.1_3'UTR|GLRB_ENST00000509282.1_Missense_Mutation_p.R472Q	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	472					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	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)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.R472Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GCAGCAAAGCGAATTGATCTT	0.373																																					p.R472Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1415A	4						.						119.0	121.0	120.0					4																	158091801		2203	4300	6503	158311251	SO:0001583	missense	2743	exon10			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1415G>A	4.37:g.158091801G>A	ENSP00000264428:p.Arg472Gln		158311251	NM_001166060	A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337241	0.95758	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.85339	-1.97;-1.97	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89622	0.6768	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.85731	0.1331	10	0.23302	T	0.38	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	472	P48167	GLRB_HUMAN	Q	472	ENSP00000264428:R472Q;ENSP00000427186:R472Q	ENSP00000264428:R472Q	R	+	2	0	GLRB	158311251	1.000000	0.71417	0.912000	0.35992	0.992000	0.81027	9.869000	0.99810	2.825000	0.97269	0.655000	0.94253	CGA		0.373	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	
GRIA2	2891	broad.mit.edu	37	4	158224833	158224833	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:158224833G>C	ENST00000264426.9	+	3	638	c.359G>C	c.(358-360)gGc>gCc	p.G120A	GRIA2_ENST00000393815.2_Missense_Mutation_p.G73A|GRIA2_ENST00000296526.7_Missense_Mutation_p.G120A|GRIA2_ENST00000449365.1_Missense_Mutation_p.G73A|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000507898.1_Missense_Mutation_p.G73A	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	120					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.G120A(1)		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)	CCAACAGATGGCACACATCCA	0.428																																					p.G73A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218C	4						.						197.0	179.0	185.0					4																	158224833		2203	4300	6503	158444283	SO:0001583	missense	2891	exon3				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.359G>C	4.37:g.158224833G>C	ENSP00000264426:p.Gly120Ala		158444283	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224667	0.79576	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365	D;D;T;D;D;D;D	0.82711	-1.64;-1.64;2.0;-1.64;-1.64;-1.64;-1.64	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	L	0.39147	1.195	0.80722	D	1	P;B;D	0.76494	0.858;0.408;0.999	B;B;D	0.77004	0.403;0.079;0.989	T	0.82798	-0.0279	10	0.18276	T	0.48	.	20.0536	0.97638	0.0:0.0:1.0:0.0	.	120;120;73	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	A	73;73;120;120;120;73;73	ENSP00000426845:G73A;ENSP00000377403:G73A;ENSP00000425217:G120A;ENSP00000296526:G120A;ENSP00000264426:G120A;ENSP00000422038:G73A;ENSP00000389837:G73A	ENSP00000264426:G120A	G	+	2	0	GRIA2	158444283	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.860000	0.86993	2.737000	0.93849	0.650000	0.86243	GGC		0.428	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
GRIA2	2891	broad.mit.edu	37	4	158282173	158282173	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:158282173A>G	ENST00000264426.9	+	14	2582	c.2303A>G	c.(2302-2304)aAc>aGc	p.N768S	AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000296526.7_Intron|GRIA2_ENST00000449365.1_Intron|GRIA2_ENST00000507898.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	768					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.N768S(1)		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)	AATGCGGTTAACCTCGCAGTA	0.398																																					p.N768S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2303G	4						.						70.0	70.0	70.0					4																	158282173		2201	4300	6501	158501623	SO:0001583	missense	2891	exon14				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.2303A>G	4.37:g.158282173A>G	ENSP00000264426:p.Asn768Ser		158501623	NM_001083619	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143229	0.57044	.	.	ENSG00000120251	ENST00000264426;ENST00000421983	T	0.44881	0.91	5.82	5.82	0.92795	Ionotropic glutamate receptor (2);	.	.	.	.	T	0.52741	0.1753	L	0.28740	0.885	0.80722	D	1	B;D	0.76494	0.417;0.999	B;D	0.87578	0.108;0.998	T	0.48234	-0.9053	9	0.31617	T	0.26	.	16.1832	0.81925	1.0:0.0:0.0:0.0	.	36;768	B8XY72;P42262	.;GRIA2_HUMAN	S	768;53	ENSP00000264426:N768S	ENSP00000264426:N768S	N	+	2	0	GRIA2	158501623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.218000	0.71995	0.533000	0.62120	AAC		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
FAM198B	51313	broad.mit.edu	37	4	159048640	159048640	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:159048640G>A	ENST00000296530.8	-	5	2100	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	FAM198B_ENST00000393807.5_Silent_p.I501I|FAM198B_ENST00000585682.1_Silent_p.I493I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	493						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.I493I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTATTACATCGATAAGCTTTT	0.383																																					p.I493I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1479T	4						.						210.0	213.0	212.0					4																	159048640		2203	4300	6503	159268090	SO:0001819	synonymous_variant	51313	exon5				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.1479C>T	4.37:g.159048640G>A			159268090	NM_001128424	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																				0.383	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
PPID	5481	broad.mit.edu	37	4	159640379	159640379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:159640379C>A	ENST00000307720.3	-	3	393	c.286G>T	c.(286-288)Gaa>Taa	p.E96*		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	96	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)	p.E96*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TAAATACTTTCTCCACCTGTC	0.313																																					p.E96X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G286T	4						.						95.0	97.0	96.0					4																	159640379		2203	4299	6502	159859829	SO:0001587	stop_gained	5481	exon3				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.286G>T	4.37:g.159640379C>A	ENSP00000303754:p.Glu96*		159859829	NM_005038	B2R9V2	Nonsense_Mutation	SNP	ENST00000307720.3	37	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	C	37	6.413093	0.97546	.	.	ENSG00000171497	ENST00000307720	.	.	.	5.01	5.01	0.66863	.	0.000000	0.44285	D	0.000478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-54.1714	19.2131	0.93765	0.0:1.0:0.0:0.0	.	.	.	.	X	96	.	ENSP00000303754:E96X	E	-	1	0	PPID	159859829	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.625000	0.61262	2.716000	0.92895	0.561000	0.74099	GAA		0.313	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038	
RAPGEF2	9693	broad.mit.edu	37	4	160262940	160262940	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:160262940G>A	ENST00000264431.4	+	14	2695	c.2276G>A	c.(2275-2277)aGa>aAa	p.R759K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	759	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.R747K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AACCTGAAGAGATTTGAAGAA	0.353																																					p.R759K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2276A	4						.						94.0	85.0	88.0					4																	160262940		1827	4086	5913	160482390	SO:0001583	missense	9693	exon14			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2276G>A	4.37:g.160262940G>A	ENSP00000264431:p.Arg759Lys		160482390	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	4.476	0.088282	0.08583	.	.	ENSG00000109756	ENST00000264431	T	0.30182	1.54	5.67	-1.45	0.08828	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.608303	0.19494	N	0.112904	T	0.08802	0.0218	N	0.05510	-0.035	0.22253	N	0.999252	B	0.02656	0.0	B	0.04013	0.001	T	0.26815	-1.0092	10	0.02654	T	1	.	1.6894	0.02849	0.4578:0.2278:0.2042:0.1103	.	759	Q9Y4G8	RPGF2_HUMAN	K	759	ENSP00000264431:R759K	ENSP00000264431:R759K	R	+	2	0	RAPGEF2	160482390	0.192000	0.23301	0.976000	0.42696	0.992000	0.81027	0.451000	0.21779	-0.353000	0.08224	-0.482000	0.04802	AGA		0.353	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
TKTL2	84076	broad.mit.edu	37	4	164393537	164393537	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:164393537G>A	ENST00000280605.3	-	1	1510	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	450						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.F450F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACTTGGATAGAAAACAGTAC	0.488																																					p.F450F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1350T	4						.						91.0	92.0	92.0					4																	164393537		2203	4300	6503	164612987	SO:0001819	synonymous_variant	84076	exon1			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1350C>T	4.37:g.164393537G>A			164612987	NM_032136	A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	CCDS3805.1																																																																																				0.488	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
TKTL2	84076	broad.mit.edu	37	4	164394013	164394013	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:164394013A>G	ENST00000280605.3	-	1	1034	c.874T>C	c.(874-876)Tcg>Ccg	p.S292P		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	292						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.S292P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCCACAGGCGATTTTGGTATG	0.393																																					p.S292P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T874C	4						.						172.0	172.0	172.0					4																	164394013		2203	4300	6503	164613463	SO:0001583	missense	84076	exon1			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.874T>C	4.37:g.164394013A>G	ENSP00000280605:p.Ser292Pro		164613463	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.375702	0.00207	.	.	ENSG00000151005	ENST00000280605	D	0.90133	-2.62	4.44	-1.87	0.07737	.	0.858743	0.10230	N	0.699746	T	0.52917	0.1764	N	0.00022	-2.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62058	-0.6934	10	0.06891	T	0.86	-1.0873	7.2227	0.25997	0.2417:0.5039:0.2544:0.0	.	292	Q9H0I9	TKTL2_HUMAN	P	292	ENSP00000280605:S292P	ENSP00000280605:S292P	S	-	1	0	TKTL2	164613463	0.674000	0.27549	0.001000	0.08648	0.110000	0.19582	2.240000	0.43088	-0.407000	0.07576	-0.766000	0.03442	TCG		0.393	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
CPE	1363	broad.mit.edu	37	4	166300670	166300670	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:166300670C>T	ENST00000402744.4	+	1	577	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	99					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.V99V(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)"""	ACCCTGGCGTCCATGAGCCTG	0.697																																					p.V99V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	4						.						10.0	10.0	10.0					4																	166300670		2135	4176	6311	166520120	SO:0001819	synonymous_variant	1363	exon1			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.297C>T	4.37:g.166300670C>T			166520120	NM_001873	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Silent	SNP	ENST00000402744.4	37	CCDS3810.1																																																																																				0.697	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
TLL1	7092	broad.mit.edu	37	4	166929130	166929130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:166929130G>T	ENST00000061240.2	+	7	1494	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.E283*|TLL1_ENST00000513213.1_Nonsense_Mutation_p.E283*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	283	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.E283*(1)|p.E283Q(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)		GGAGCCTGGAGAAGTAAACTC	0.408																																					p.E283X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G847T	4						.						122.0	117.0	119.0					4																	166929130		2203	4300	6503	167148580	SO:0001587	stop_gained	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.847G>T	4.37:g.166929130G>T	ENSP00000061240:p.Glu283*		167148580	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Nonsense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	43	10.154434	0.99349	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	.	.	.	5.29	5.29	0.74685	.	0.062472	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.9969	0.92817	0.0:0.0:1.0:0.0	.	.	.	.	X	283	.	ENSP00000061240:E283X	E	+	1	0	TLL1	167148580	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	9.730000	0.98797	2.488000	0.83962	0.650000	0.86243	GAA		0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
TLL1	7092	broad.mit.edu	37	4	166963197	166963197	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:166963197A>C	ENST00000061240.2	+	11	1927	c.1280A>C	c.(1279-1281)aAa>aCa	p.K427T	TLL1_ENST00000507499.1_Missense_Mutation_p.K427T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	427	CUB 1. {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.K427T(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)		TGTGGGGACAAATTGCCTGAA	0.363																																					p.K427T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1280C	4						.						123.0	124.0	123.0					4																	166963197		2203	4300	6503	167182647	SO:0001583	missense	7092	exon11			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.1280A>C	4.37:g.166963197A>C	ENSP00000061240:p.Lys427Thr		167182647	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.875601	0.51695	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.18810	2.19;2.19	5.67	3.26	0.37387	CUB (5);	0.000000	0.85682	U	0.000000	T	0.31827	0.0809	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	T	0.01819	-1.1267	10	0.21540	T	0.41	.	9.9695	0.41745	0.863:0.0:0.137:0.0	.	427;427	E9PD25;O43897	.;TLL1_HUMAN	T	427	ENSP00000061240:K427T;ENSP00000426082:K427T	ENSP00000061240:K427T	K	+	2	0	TLL1	167182647	1.000000	0.71417	0.956000	0.39512	0.346000	0.29079	6.112000	0.71547	0.442000	0.26555	-0.353000	0.07706	AAA		0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
DDX60	55601	broad.mit.edu	37	4	169169425	169169425	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:169169425T>G	ENST00000393743.3	-	29	4168	c.3877A>C	c.(3877-3879)Aca>Cca	p.T1293P		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1293	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.T1293P(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAAGCAAGTGTTCCAGTAGCT	0.348																																					p.T1293P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3877C	4						.						115.0	106.0	109.0					4																	169169425		2203	4300	6503	169406000	SO:0001583	missense	55601	exon29			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3877A>C	4.37:g.169169425T>G	ENSP00000377344:p.Thr1293Pro		169406000	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389867	0.61956	.	.	ENSG00000137628	ENST00000393743	T	0.61510	0.1	4.85	3.59	0.41128	Helicase, C-terminal (3);	0.109105	0.41500	D	0.000878	T	0.80444	0.4624	H	0.95187	3.635	0.40298	D	0.978576	D	0.89917	1.0	D	0.87578	0.998	D	0.84672	0.0712	10	0.87932	D	0	.	9.5352	0.39218	0.1558:0.0:0.0:0.8442	.	1293	Q8IY21	DDX60_HUMAN	P	1293	ENSP00000377344:T1293P	ENSP00000377344:T1293P	T	-	1	0	DDX60	169406000	0.815000	0.29118	0.978000	0.43139	0.935000	0.57460	0.705000	0.25675	2.043000	0.60533	0.460000	0.39030	ACA		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
DDX60L	91351	broad.mit.edu	37	4	169317257	169317257	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:169317257C>A	ENST00000511577.1	-	27	3757	c.3510G>T	c.(3508-3510)aaG>aaT	p.K1170N	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1170N|DDX60L_ENST00000505890.1_Missense_Mutation_p.K1171N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1170							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.K1171N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTCAGCCTTCTTTGGGTTTT	0.323																																					p.K1170N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3510T	4						.						36.0	32.0	33.0					4																	169317257		1780	4045	5825	169553832	SO:0001583	missense	91351	exon27			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3510G>T	4.37:g.169317257C>A	ENSP00000422423:p.Lys1170Asn		169553832	NM_001012967	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.077|5.077	0.199915|0.199915	0.09652|0.09652	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000514580|ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	.|T;T;T;T	.|0.43294	.|0.95;0.95;0.95;2.7	1.69|1.69	-1.07|-1.07	0.09968|0.09968	.|.	.|1.818140	.|0.04504	.|U	.|0.381811	.|T	.|0.39410	.|0.1077	L|L	0.52011|0.52011	1.625|1.625	0.09310|0.09310	N|N	1|1	.|B;P;B	.|0.36683	.|0.139;0.565;0.139	.|B;B;B	.|0.41088	.|0.045;0.347;0.045	.|T	.|0.30621	.|-0.9972	.|10	.|0.33940	.|T	.|0.23	.|.	5.3113|5.3113	0.15831|0.15831	0.0:0.358:0.0:0.642|0.0:0.358:0.0:0.642	.|.	.|1170;1171;1170	.|E9PAP8;D6R906;Q5H9U9	.|.;.;DDX6L_HUMAN	X|N	58|1170;1170;1171;866	.|ENSP00000260184:K1170N;ENSP00000422423:K1170N;ENSP00000422202:K1171N;ENSP00000421026:K866N	.|ENSP00000260184:K1170N	E|K	-|-	1|3	0|2	DDX60L|DDX60L	169553832|169553832	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.389000|-0.389000	0.07342|0.07342	-0.269000|-0.269000	0.09298|0.09298	0.313000|0.313000	0.20887|0.20887	GAA|AAG		0.323	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
NEK1	4750	broad.mit.edu	37	4	170354754	170354754	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:170354754A>C	ENST00000439128.2	-	27	3383	c.2743T>G	c.(2743-2745)Ttg>Gtg	p.L915V	NEK1_ENST00000507142.1_Missense_Mutation_p.L943V|NEK1_ENST00000511633.1_Missense_Mutation_p.L899V|NEK1_ENST00000512193.1_Missense_Mutation_p.L846V|NEK1_ENST00000510533.1_Missense_Mutation_p.L871V	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	915					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.L943V(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GTGCATGGCAAGCTCTCATCT	0.388																																					p.L871V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2611G	4						.						164.0	155.0	158.0					4																	170354754		1867	4099	5966	170591329	SO:0001583	missense	4750	exon26			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2743T>G	4.37:g.170354754A>C	ENSP00000408020:p.Leu915Val		170591329	NM_001199400	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	a	11.75	1.731953	0.30684	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.69806	-0.43;-0.4;-0.41;-0.39;-0.4	5.65	3.28	0.37604	.	0.642422	0.13432	N	0.388302	T	0.56411	0.1983	L	0.44542	1.39	0.23391	N	0.997772	B;B;B;B;B	0.25312	0.052;0.089;0.123;0.089;0.075	B;B;B;B;B	0.29862	0.075;0.108;0.075;0.108;0.034	T	0.50268	-0.8848	10	0.44086	T	0.13	.	5.6823	0.17782	0.7111:0.1437:0.1452:0.0	.	846;899;943;871;915	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	V	915;899;871;943;846	ENSP00000408020:L915V;ENSP00000423332:L899V;ENSP00000427653:L871V;ENSP00000424757:L943V;ENSP00000424938:L846V	ENSP00000408020:L915V	L	-	1	2	NEK1	170591329	0.898000	0.30612	0.794000	0.32065	0.013000	0.08279	1.983000	0.40648	0.983000	0.38602	-0.379000	0.06801	TTG		0.388	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
CLRN2	645104	broad.mit.edu	37	4	17528582	17528582	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:17528582C>T	ENST00000511148.2	+	3	678	c.576C>T	c.(574-576)tgC>tgT	p.C192C	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	192						integral component of membrane (GO:0016021)		p.C209C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTTGGATCTGCGTGGCCAGCG	0.512																																					p.C192C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576T	4						.						112.0	120.0	117.0					4																	17528582		2153	4252	6405	17137680	SO:0001819	synonymous_variant	645104	exon3				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	ENST00000511148.2:c.576C>T	4.37:g.17528582C>T			17137680	NM_001079827		Silent	SNP	ENST00000511148.2	37	CCDS47032.1																																																																																				0.512	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827	
NCAPG	64151	broad.mit.edu	37	4	17826672	17826672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:17826672G>T	ENST00000251496.2	+	10	1641	c.1465G>T	c.(1465-1467)Gaa>Taa	p.E489*		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	489					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.E489K(1)|p.E489*(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)		AAGAAAGAAAGAACTCAAGGT	0.388																																					p.E489X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G1465T	4						.						62.0	63.0	63.0					4																	17826672		2203	4300	6503	17435770	SO:0001587	stop_gained	64151	exon10			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.1465G>T	4.37:g.17826672G>T	ENSP00000251496:p.Glu489*		17435770	NM_022346	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP	ENST00000251496.2	37	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	39	7.780652	0.98486	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	.	.	.	5.72	4.82	0.62117	.	0.049160	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-24.2124	8.0964	0.30831	0.0873:0.3846:0.5281:0.0	.	.	.	.	X	489;52	.	ENSP00000251496:E489X	E	+	1	0	NCAPG	17435770	0.998000	0.40836	1.000000	0.80357	0.889000	0.51656	2.024000	0.41049	2.715000	0.92844	0.585000	0.79938	GAA		0.388	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
NEK1	4750	broad.mit.edu	37	4	170429410	170429410	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:170429410G>A	ENST00000439128.2	-	19	2378	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	NEK1_ENST00000507142.1_Missense_Mutation_p.R608C|NEK1_ENST00000511633.1_Missense_Mutation_p.R564C|NEK1_ENST00000512193.1_Missense_Mutation_p.R511C|NEK1_ENST00000510533.1_Missense_Mutation_p.R536C	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	580					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R608C(3)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTTCACCACGAAGTTTGGCT	0.363																																					p.R536C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1606T	4						.						93.0	88.0	89.0					4																	170429410		1834	4097	5931	170665985	SO:0001583	missense	4750	exon18			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1738C>T	4.37:g.170429410G>A	ENSP00000408020:p.Arg580Cys		170665985	NM_001199400	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722317	0.68959	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.76316	-1.01;-0.77;-0.87;-0.8;-0.89	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000004	D	0.86896	0.6043	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.998;0.997	D	0.87902	0.2691	10	0.87932	D	0	.	14.3595	0.66761	0.0:0.0:0.852:0.148	.	511;564;608;536;580	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	C	580;564;536;608;511	ENSP00000408020:R580C;ENSP00000423332:R564C;ENSP00000427653:R536C;ENSP00000424757:R608C;ENSP00000424938:R511C	ENSP00000408020:R580C	R	-	1	0	NEK1	170665985	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.898000	0.63238	2.607000	0.88179	0.591000	0.81541	CGT		0.363	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
GALNT7	51809	broad.mit.edu	37	4	174216609	174216609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:174216609C>T	ENST00000265000.4	+	4	900	c.817C>T	c.(817-819)Cga>Tga	p.R273*	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Nonsense_Mutation_p.R273*	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	273	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|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)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R273*(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GAAGGTATTTCGAAATGAAAG	0.343																																					p.R273X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C817T	4						.						121.0	129.0	127.0					4																	174216609		2203	4300	6503	174453184	SO:0001587	stop_gained	51809	exon4			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.817C>T	4.37:g.174216609C>T	ENSP00000265000:p.Arg273*		174453184	NM_017423	B3KQU3|Q7Z5W7|Q9UJ28	Nonsense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	C	36	5.782291	0.96937	.	.	ENSG00000109586	ENST00000265000;ENST00000512285;ENST00000458613	.	.	.	5.76	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.888	0.63721	0.2774:0.7226:0.0:0.0	.	.	.	.	X	273;273;50	.	ENSP00000265000:R273X	R	+	1	2	GALNT7	174453184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.523000	0.45580	1.417000	0.47077	0.655000	0.94253	CGA		0.343	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423	
GALNT7	51809	broad.mit.edu	37	4	174242776	174242776	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:174242776C>T	ENST00000265000.4	+	12	1965	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	RP11-798M19.3_ENST00000507803.1_RNA	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	628	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|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)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R628C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GTGTTTAGATCGCTCAGAGGT	0.368																																					p.R628C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1882T	4						.						115.0	116.0	116.0					4																	174242776		2203	4300	6503	174479351	SO:0001583	missense	51809	exon12			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1882C>T	4.37:g.174242776C>T	ENSP00000265000:p.Arg628Cys		174479351	NM_017423	B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890778	0.72524	.	.	ENSG00000109586	ENST00000265000	T	0.26660	1.72	5.5	5.5	0.81552	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.13575	-1.0504	10	0.38643	T	0.18	.	19.7828	0.96424	0.0:1.0:0.0:0.0	.	628	Q86SF2	GALT7_HUMAN	C	628	ENSP00000265000:R628C	ENSP00000265000:R628C	R	+	1	0	GALNT7	174479351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.903000	0.63272	2.761000	0.94854	0.650000	0.86243	CGC		0.368	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423	
NCAPG	64151	broad.mit.edu	37	4	17847356	17847356	+	IGR	SNP	G	G	A	rs527647162		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:17847356G>A	ENST00000251496.2	+	0	4661				LCORL_ENST00000326877.4_Silent_p.S315S|LCORL_ENST00000539056.1_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G						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.S315S(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)		ATTTCTCTTCGCTTTTGAGAT	0.353																																					p.S315S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	4						.						129.0	128.0	128.0					4																	17847356		2203	4300	6503	17456454	SO:0001628	intergenic_variant	254251	exon7			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		4.37:g.17847356G>A			17456454	NM_153686	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000251496.2	37	CCDS3424.1																																																																																				0.353	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
HMGB2	3148	broad.mit.edu	37	4	174254253	174254253	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:174254253T>G	ENST00000296503.5	-	3	1136	c.263A>C	c.(262-264)aAg>aCg	p.K88T	HMGB2_ENST00000446922.2_Missense_Mutation_p.K88T|HMGB2_ENST00000438704.2_Missense_Mutation_p.K88T			P26583	HMGB2_HUMAN	high mobility group box 2	88					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.K88T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTCCTTTTTCTTCCCCTTCTT	0.403																																					p.K88T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A263C	4						.						220.0	229.0	226.0					4																	174254253		2203	4300	6503	174490828	SO:0001583	missense	3148	exon3				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.263A>C	4.37:g.174254253T>G	ENSP00000296503:p.Lys88Thr		174490828	NM_002129	B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208866	0.39003	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.06	5.06	0.68205	High mobility group, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.95027	0.8390	M	0.85859	2.78	0.58432	D	0.999993	B	0.26400	0.148	B	0.39152	0.292	D	0.94685	0.7869	10	0.72032	D	0.01	.	14.9745	0.71261	0.0:0.0:0.0:1.0	.	88	P26583	HMGB2_HUMAN	T	88	ENSP00000296503:K88T;ENSP00000393448:K88T;ENSP00000404912:K88T;ENSP00000423001:K88T	ENSP00000296503:K88T	K	-	2	0	HMGB2	174490828	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	3.036000	0.49767	2.122000	0.65172	0.460000	0.39030	AAG		0.403	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688	
MORF4	10934	broad.mit.edu	37	4	174537513	174537513	+	IGR	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:174537513G>A								RP11-475B2.1 (21806 upstream) : RP11-161D15.2 (280031 downstream)																							CAGGAAGATAGAAGAGCTGTT	0.378																																					p.F94F												.	.	0			c.C282T	4						.						181.0	187.0	185.0					4																	174537513		2202	4300	6502	174774088	SO:0001628	intergenic_variant	10934	exon1																															4.37:g.174537513G>A			174774088	NM_006792		Silent	SNP		37																																																																																				0	0.378								
FBXO8	26269	broad.mit.edu	37	4	175184058	175184058	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:175184058C>T	ENST00000393674.2	-	2	1048	c.186G>A	c.(184-186)tcG>tcA	p.S62S	FBXO8_ENST00000503293.1_Intron	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	62					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S62S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CCTGTTCTTTCGATTTCCTTG	0.418																																					p.S62S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G186A	4						.						233.0	209.0	217.0					4																	175184058		2203	4300	6503	175420633	SO:0001819	synonymous_variant	26269	exon2			AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.186G>A	4.37:g.175184058C>T			175420633	NM_012180	B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	ENST00000393674.2	37	CCDS3820.1																																																																																				0.418	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180	
GLRA3	8001	broad.mit.edu	37	4	175565066	175565066	+	Silent	SNP	G	G	A	rs142571571	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:175565066G>A	ENST00000274093.3	-	10	1768	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	GLRA3_ENST00000340217.5_Silent_p.I407I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	422					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.I422I(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)	TGGCCCGGTCGATAAAGACCT	0.438													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16151	0.0		0.0	False		,,,				2504	0.0				p.I407I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1221T	4						.	G	,	10,4396	16.8+/-37.8	0,10,2193	155.0	135.0	142.0		1221,1266	-3.1	0.9	4	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GLRA3	NM_001042543.1,NM_006529.2	,	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	,	407/450,422/465	175565066	10,12996	2203	4300	6503	175801641	SO:0001819	synonymous_variant	8001	exon9			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.1266C>T	4.37:g.175565066G>A			175801641	NM_001042543	D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	CCDS3822.1																																																																																				0.438	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
ADAM29	11086	broad.mit.edu	37	4	175898692	175898692	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:175898692G>T	ENST00000359240.3	+	5	2686	c.2016G>T	c.(2014-2016)aaG>aaT	p.K672N	ADAM29_ENST00000445694.1_Missense_Mutation_p.K672N|ADAM29_ENST00000514159.1_Missense_Mutation_p.K672N|ADAM29_ENST00000404450.4_Missense_Mutation_p.K672N|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	672	Poly-Lys.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K672N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGAGAAAGAAGAAAAAGAAGT	0.358																																					p.K672N	Ovarian(140;1727 1835 21805 25838 41440)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2016T	4						.						33.0	36.0	35.0					4																	175898692		2201	4298	6499	176135267	SO:0001583	missense	11086	exon3			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2016G>T	4.37:g.175898692G>T	ENSP00000352177:p.Lys672Asn		176135267	NM_001130705	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	6.544	0.468641	0.12461	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01902	4.57;4.57;4.57;4.57	3.08	-2.48	0.06423	.	0.539243	0.13293	U	0.398827	T	0.00967	0.0032	N	0.14661	0.345	0.09310	N	1	P	0.35011	0.48	B	0.25759	0.063	T	0.46775	-0.9167	9	.	.	.	.	1.2327	0.01946	0.3417:0.1458:0.3647:0.1478	.	672	Q9UKF5	ADA29_HUMAN	N	672	ENSP00000352177:K672N;ENSP00000414544:K672N;ENSP00000384229:K672N;ENSP00000423517:K672N	.	K	+	3	2	ADAM29	176135267	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.147000	0.03188	-0.688000	0.05155	-0.148000	0.13756	AAG		0.358	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
WDR17	116966	broad.mit.edu	37	4	177089878	177089878	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:177089878A>C	ENST00000280190.4	+	25	3319	c.3163A>C	c.(3163-3165)Aaa>Caa	p.K1055Q	WDR17_ENST00000508596.1_Missense_Mutation_p.K1016Q|WDR17_ENST00000393643.2_Missense_Mutation_p.K1031Q|WDR17_ENST00000507824.2_Missense_Mutation_p.K1030Q			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1055								p.K1055Q(1)		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)		ACATTTAATAAAACTCTGTGC	0.363																																					p.K1016Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3046C	4						.						130.0	126.0	127.0					4																	177089878		2203	4300	6503	177326872	SO:0001583	missense	116966	exon23			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.3163A>C	4.37:g.177089878A>C	ENSP00000280190:p.Lys1055Gln		177326872	NM_181265	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.948415|3.948415	0.73787|0.73787	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.59638|.	0.31;0.31;0.25|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72179|0.72179	0.3428|0.3428	M|M	0.68317|0.68317	2.08|2.08	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D|.	0.89917|.	0.995;1.0;1.0|.	P;D;D|.	0.83275|.	0.859;0.996;0.996|.	T|T	0.72308|0.72308	-0.4332|-0.4332	10|6	0.45353|.	T|.	0.12|.	-26.488|-26.488	15.0373|15.0373	0.71757|0.71757	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1031;1016;1055|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	Q|T	1016;1031;1055;1031|289	ENSP00000422763:K1016Q;ENSP00000377258:K1031Q;ENSP00000280190:K1055Q|.	ENSP00000280190:K1055Q|.	K|K	+|+	1|2	0|0	WDR17|WDR17	177326872|177326872	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.979000|0.979000	0.70002|0.70002	8.444000|8.444000	0.90323|0.90323	2.138000|2.138000	0.66242|0.66242	0.482000|0.482000	0.46254|0.46254	AAA|AAA		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
NEIL3	55247	broad.mit.edu	37	4	178274763	178274763	+	Silent	SNP	A	A	C	rs566894700		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:178274763A>C	ENST00000264596.3	+	8	1459	c.1341A>C	c.(1339-1341)gtA>gtC	p.V447V	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	447					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.V447V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCAGCAAAGTAAACATATCAC	0.383								Base excision repair (BER), DNA glycosylases					A|||	0	0.0	0.0	0.0	5008	,	,		13750	0.0		0.0	False		,,,				2504	0.0				p.V447V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1341C	4						.						96.0	91.0	93.0					4																	178274763		2203	4300	6503	178511757	SO:0001819	synonymous_variant	55247	exon8			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1341A>C	4.37:g.178274763A>C			178511757	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	CCDS3828.1																																																																																				0.383	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248	
TRAPPC11	60684	broad.mit.edu	37	4	184607877	184607877	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:184607877G>T	ENST00000334690.6	+	18	2071	c.1869G>T	c.(1867-1869)aaG>aaT	p.K623N	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.K229N|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.K623N	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	623					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.K623N(1)									GGTTTTCCAAGCTCTGTGTCA	0.363																																					p.K623N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1869T	4						.						343.0	321.0	329.0					4																	184607877		2203	4300	6503	184844871	SO:0001583	missense	60684	exon18				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.1869G>T	4.37:g.184607877G>T	ENSP00000335371:p.Lys623Asn		184844871	NM_199053	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503358	0.44558	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.45	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;0.995	D;D;D	0.87578	0.998;0.966;0.919	T	0.48328	-0.9045	9	0.19147	T	0.46	.	8.7653	0.34700	0.2384:0.0:0.7616:0.0	.	229;623;623	D6RHE5;Q7Z392;Q7Z392-3	.;TPC11_HUMAN;.	N	623;623;623;229	.	ENSP00000335371:K623N	K	+	3	2	C4orf41	184844871	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.291000	0.43540	0.628000	0.30357	0.467000	0.42956	AAG		0.363	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	
CENPU	79682	broad.mit.edu	37	4	185646114	185646114	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:185646114C>A	ENST00000281453.5	-	4	387	c.317G>T	c.(316-318)aGa>aTa	p.R106I	MLF1IP_ENST00000541971.1_Missense_Mutation_p.R106I	NM_024629.3	NP_078905.2												p.R106I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CCAGTACCTTCTTTTTGCTTC	0.353																																					p.R106I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317T	4						.						156.0	143.0	148.0					4																	185646114		2203	4300	6503	185883108	SO:0001583	missense	79682	exon4																														ENST00000281453.5:c.317G>T	4.37:g.185646114C>A	ENSP00000281453:p.Arg106Ile		185883108	NM_024629		Missense_Mutation	SNP	ENST00000281453.5	37	CCDS3838.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797508	0.31777	.	.	ENSG00000151725	ENST00000281453;ENST00000541665;ENST00000541971;ENST00000514781	T;T;T	0.51574	2.37;2.35;0.7	4.47	-1.74	0.08056	.	1.332560	0.05203	N	0.505379	T	0.32793	0.0841	L	0.27053	0.805	0.09310	N	1	B;P	0.39964	0.001;0.697	B;B	0.38562	0.002;0.276	T	0.30446	-0.9978	10	0.72032	D	0.01	.	4.4529	0.11630	0.1556:0.3665:0.0:0.4779	.	106;106	Q09GN1;Q71F23	.;CENPU_HUMAN	I	106;106;106;77	ENSP00000281453:R106I;ENSP00000445862:R106I;ENSP00000423167:R77I	ENSP00000281453:R106I	R	-	2	0	MLF1IP	185883108	0.001000	0.12720	0.007000	0.13788	0.016000	0.09150	-0.341000	0.07811	-0.277000	0.09193	-0.154000	0.13518	AGA		0.353	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2		
HELT	391723	broad.mit.edu	37	4	185941719	185941719	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:185941719G>A	ENST00000515777.1	+	4	610	c.522G>A	c.(520-522)ggG>ggA	p.G174G	HELT_ENST00000505610.1_Silent_p.G173G|HELT_ENST00000338875.4_Silent_p.G259G			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	174	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G259G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTGGTGCCGGGCCTTTCCCCT	0.741																																					p.G259G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G777A	4						.						7.0	10.0	9.0					4																	185941719		2088	4192	6280	186178713	SO:0001819	synonymous_variant	391723	exon4			BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.522G>A	4.37:g.185941719G>A			186178713	NM_001029887	B2RTS5|B7ZMI7|B7ZMI8	Silent	SNP	ENST00000515777.1	37																																																																																					0.741	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781	
SNX25	83891	broad.mit.edu	37	4	186231801	186231801	+	Missense_Mutation	SNP	C	C	T	rs567356664		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:186231801C>T	ENST00000504273.1	+	7	977	c.683C>T	c.(682-684)gCg>gTg	p.A228V	SNX25_ENST00000264694.8_Missense_Mutation_p.A228V|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	228					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.A228V(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAAGAAACTGCGGCAATGAAA	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0				p.A228V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C683T	4						.						74.0	72.0	73.0					4																	186231801		2203	4300	6503	186468795	SO:0001583	missense	83891	exon7			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.683C>T	4.37:g.186231801C>T	ENSP00000426255:p.Ala228Val		186468795	NM_031953	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764217	0.89932	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.10668	2.85;2.85	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	L	0.54323	1.7	0.49582	D	0.999807	D	0.89917	1.0	D	0.80764	0.994	T	0.00256	-1.1873	10	0.37606	T	0.19	-14.1267	19.5584	0.95363	0.0:1.0:0.0:0.0	.	228	Q9H3E2	SNX25_HUMAN	V	228	ENSP00000426255:A228V;ENSP00000264694:A228V	ENSP00000264694:A228V	A	+	2	0	SNX25	186468795	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.437000	0.80417	2.610000	0.88304	0.563000	0.77884	GCG		0.478	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
CCDC110	256309	broad.mit.edu	37	4	186379985	186379985	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:186379985C>A	ENST00000307588.3	-	6	1831	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*	CCDC110_ENST00000393540.3_Nonsense_Mutation_p.E549*|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Nonsense_Mutation_p.E586*	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	586						nucleus (GO:0005634)		p.E586*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTAACATTTCTTTTTCATCT	0.308																																					p.E586X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.G1756T	4						.						69.0	72.0	71.0					4																	186379985		2201	4293	6494	186616979	SO:0001587	stop_gained	256309	exon6			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1756G>T	4.37:g.186379985C>A	ENSP00000306776:p.Glu586*		186616979	NM_152775	Q86YI9|Q8N7W0	Nonsense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686805	0.88639	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	.	.	.	5.55	2.63	0.31362	.	0.539405	0.16902	N	0.194863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-1.7694	5.6758	0.17747	0.0:0.3474:0.441:0.2116	.	.	.	.	X	549;586;586	.	ENSP00000306776:E586X	E	-	1	0	CCDC110	186616979	0.216000	0.23585	0.023000	0.16930	0.692000	0.40212	0.280000	0.18790	0.798000	0.33994	-0.211000	0.12701	GAA		0.308	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
FAM149A	25854	broad.mit.edu	37	4	187077233	187077233	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:187077233C>T	ENST00000356371.5	+	7	1336	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	FAM149A_ENST00000514153.1_Missense_Mutation_p.R155C|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.R155C|FAM149A_ENST00000389354.5_Missense_Mutation_p.R155C|FAM149A_ENST00000502970.1_Missense_Mutation_p.R155C|FAM149A_ENST00000503432.1_Missense_Mutation_p.R155C			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	446								p.R155C(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)		TGTTTCCCCGCGTGACTGTGT	0.463																																					p.R155C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463T	4						.						124.0	113.0	117.0					4																	187077233		2203	4300	6503	187314227	SO:0001583	missense	25854	exon6			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.1336C>T	4.37:g.187077233C>T	ENSP00000348732:p.Arg446Cys		187314227	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		.	.	.	.	.	.	.	.	.	.	C	3.284	-0.146310	0.06627	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.11821	2.75;2.74;2.75;2.75;2.75;2.75	5.46	1.65	0.23941	.	1.071280	0.07114	N	0.842629	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B;B;P	0.36495	0.001;0.0;0.556	B;B;B	0.13407	0.0;0.0;0.009	T	0.29971	-0.9994	10	0.38643	T	0.18	-3.2747	1.2758	0.02030	0.2445:0.3439:0.2483:0.1634	.	446;446;155	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	C	155;446;155;155;155;155	ENSP00000426835:R155C;ENSP00000348732:R446C;ENSP00000227065:R155C;ENSP00000427155:R155C;ENSP00000424380:R155C;ENSP00000374005:R155C	ENSP00000227065:R155C	R	+	1	0	FAM149A	187314227	0.571000	0.26659	0.018000	0.16275	0.000000	0.00434	0.923000	0.28757	0.436000	0.26393	-0.125000	0.14975	CGT		0.463	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655	
KLKB1	3818	broad.mit.edu	37	4	187177156	187177156	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:187177156A>G	ENST00000264690.6	+	13	1687	c.1500A>G	c.(1498-1500)aaA>aaG	p.K500K	KLKB1_ENST00000513864.1_Silent_p.K500K	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	500	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.K500K(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)		AATTCCAAAAACCAATATGCC	0.353																																					p.K500K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1500G	4						.						55.0	57.0	56.0					4																	187177156		2203	4300	6503	187414150	SO:0001819	synonymous_variant	3818	exon13			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.1500A>G	4.37:g.187177156A>G			187414150	NM_000892	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Silent	SNP	ENST00000264690.6	37	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	A	9.254	1.041583	0.19669	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.77	-0.773	0.10995	.	.	.	.	.	T	0.39911	0.1096	.	.	.	0.51767	D	0.999933	.	.	.	.	.	.	T	0.32798	-0.9893	4	.	.	.	.	1.1915	0.01866	0.4107:0.1125:0.2814:0.1953	.	.	.	.	S	548	.	.	N	+	2	0	KLKB1	187414150	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.606000	0.05654	0.461000	0.27071	0.460000	0.39030	AAC		0.353	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
ZNF141	7700	broad.mit.edu	37	4	367154	367154	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:367154C>T	ENST00000240499.7	+	4	1077	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	310					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P310S(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGGAGAGAAACCCTACAAATG	0.393																																					p.P310S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C928T	4						.						68.0	77.0	74.0					4																	367154		2199	4298	6497	357154	SO:0001583	missense	7700	exon4			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.928C>T	4.37:g.367154C>T	ENSP00000240499:p.Pro310Ser		357154	NM_003441	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841549	0.71488	.	.	ENSG00000131127	ENST00000240499	T	0.16743	2.32	1.24	-0.242	0.13039	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17408	0.0418	L	0.49455	1.56	0.30001	N	0.815976	P	0.45957	0.869	P	0.46049	0.502	T	0.19745	-1.0296	8	.	.	.	.	6.5311	0.22328	0.0:0.6973:0.3027:0.0	.	310	Q15928	ZN141_HUMAN	S	310	ENSP00000240499:P310S	.	P	+	1	0	ZNF141	357154	0.238000	0.23825	0.211000	0.23655	0.942000	0.58702	3.658000	0.54482	0.591000	0.29711	0.313000	0.20887	CCC		0.393	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441	
ZNF721	170960	broad.mit.edu	37	4	435911	435911	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:435911T>C	ENST00000338977.5	-	2	2357	c.2309A>G	c.(2308-2310)aAa>aGa	p.K770R	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K782R|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	770					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.K552R(1)|p.K782R(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCCTTACATTTGTAGGGTTT	0.363																																					p.K782R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2345G	4						.						51.0	55.0	54.0					4																	435911		2085	4229	6314	425911	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.2309A>G	4.37:g.435911T>C	ENSP00000340524:p.Lys770Arg		425911	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	T	11.67	1.707189	0.30232	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.56941	0.43;0.43	1.28	-0.783	0.10958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57621	0.2066	L	0.42686	1.345	0.09310	N	1	B;P;P	0.40602	0.231;0.723;0.676	P;P;P	0.62382	0.681;0.901;0.84	T	0.52358	-0.8586	9	0.44086	T	0.13	.	4.9522	0.14021	0.0:0.0:0.3115:0.6885	.	770;782;782	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	R	770;782	ENSP00000340524:K770R;ENSP00000428878:K782R	ENSP00000340524:K770R	K	-	2	0	ZNF721	425911	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.202000	0.09451	-0.422000	0.07405	0.155000	0.16302	AAA		0.363	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
ADD1	118	broad.mit.edu	37	4	2886256	2886256	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:2886256A>G	ENST00000398129.1	+	3	393	c.373A>G	c.(373-375)Act>Gct	p.T125A	ADD1_ENST00000355842.3_Missense_Mutation_p.T125A|ADD1_ENST00000503455.2_Missense_Mutation_p.T125A|ADD1_ENST00000264758.7_Missense_Mutation_p.T125A|ADD1_ENST00000398125.1_Missense_Mutation_p.T125A|ADD1_ENST00000398123.2_Missense_Mutation_p.T125A|ADD1_ENST00000513328.2_Missense_Mutation_p.T125A|ADD1_ENST00000446856.1_Missense_Mutation_p.T125A			P35611	ADDA_HUMAN	adducin 1 (alpha)	125					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)	p.T125A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGTATGGTGACTCCTGTGAA	0.428																																					p.T125A	Esophageal Squamous(71;505 1201 20414 34538 37449)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A373G	4						.						197.0	194.0	195.0					4																	2886256		2203	4300	6503	2856054	SO:0001583	missense	118	exon4			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.373A>G	4.37:g.2886256A>G	ENSP00000381197:p.Thr125Ala		2856054	NM_001119	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998457	0.74818	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.37561	1.115	0.80722	D	1	P;B;D;P;P;D;B	0.67145	0.55;0.191;0.992;0.55;0.532;0.996;0.397	B;B;D;B;B;D;B	0.76071	0.348;0.263;0.986;0.348;0.155;0.987;0.119	T	0.37842	-0.9688	10	0.51188	T	0.08	-28.4768	15.4656	0.75397	1.0:0.0:0.0:0.0	.	125;125;125;125;125;125;125	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	A	125	ENSP00000264758:T125A;ENSP00000399828:T125A;ENSP00000381193:T125A;ENSP00000421918:T125A;ENSP00000421907:T125A;ENSP00000423024:T125A;ENSP00000348100:T125A;ENSP00000381191:T125A;ENSP00000381197:T125A	ENSP00000264758:T125A	T	+	1	0	ADD1	2856054	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.897000	0.92532	2.241000	0.73720	0.533000	0.62120	ACT		0.428	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189	
HTT	3064	broad.mit.edu	37	4	3208605	3208605	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:3208605G>A	ENST00000355072.5	+	44	6115	c.5970G>A	c.(5968-5970)acG>acA	p.T1990T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1990					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.T1990T(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)		CTGTGCTCACGCTGTATGTGG	0.522																																					p.T1990T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5970A	4						.						75.0	74.0	74.0					4																	3208605		2000	4171	6171	3178403	SO:0001819	synonymous_variant	3064	exon44			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.5970G>A	4.37:g.3208605G>A			3178403	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.522	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
RGS12	6002	broad.mit.edu	37	4	3416494	3416494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:3416494G>T	ENST00000344733.5	+	6	3110	c.2206G>T	c.(2206-2208)Gaa>Taa	p.E736*	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Nonsense_Mutation_p.E736*|RGS12_ENST00000306648.7_Nonsense_Mutation_p.E134*|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Nonsense_Mutation_p.E736*|RGS12_ENST00000338806.4_Nonsense_Mutation_p.E88*|RGS12_ENST00000538395.1_Nonsense_Mutation_p.E78*	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	736	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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.E736*(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)		TCTAAGGAAAGAATTCAGTGA	0.413																																					p.E736X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2206T	4						.						97.0	111.0	106.0					4																	3416494		2203	4300	6503	3386292	SO:0001587	stop_gained	6002	exon6			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.2206G>T	4.37:g.3416494G>T	ENSP00000339381:p.Glu736*		3386292	NM_002926	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Nonsense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177781	0.94846	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	.	.	.	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.2996	15.9416	0.79758	0.0:0.0:1.0:0.0	.	.	.	.	X	736;736;736;134;88;78	.	ENSP00000304459:E134X	E	+	1	0	RGS12	3386292	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	9.493000	0.97960	2.075000	0.62263	0.563000	0.77884	GAA		0.413	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
LRPAP1	4043	broad.mit.edu	37	4	3516638	3516638	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:3516638G>A	ENST00000500728.2	-	7	998	c.852C>T	c.(850-852)ttC>ttT	p.F284F	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	284	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.F284F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TTTTGGCTTCGAAGTGCTTGA	0.587																																					p.F284F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C852T	4						.						188.0	148.0	162.0					4																	3516638		2203	4300	6503	3486436	SO:0001819	synonymous_variant	4043	exon7				CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.852C>T	4.37:g.3516638G>A			3486436	NM_002337	D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	CCDS3371.1																																																																																				0.587	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4		
NSG1	27065	broad.mit.edu	37	4	4411402	4411402	+	Missense_Mutation	SNP	G	G	A	rs368098188		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:4411402G>A	ENST00000421177.2	+	8	2340	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	NSG1_ENST00000397958.1_Missense_Mutation_p.V117I|NSG1_ENST00000505246.1_Missense_Mutation_p.V117I|NSG1_ENST00000433139.2_Missense_Mutation_p.V117I|NSG1_ENST00000506380.1_Missense_Mutation_p.V117I|NSG1_ENST00000504171.1_Missense_Mutation_p.V78I|NSG1_ENST00000513555.1_Missense_Mutation_p.V117I			P42857	NSG1_HUMAN		117					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V117I(1)									CGATGGGTTCGTCCTCAAGGT	0.597																																					p.V117I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349A	4						.	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	118.0	96.0	103.0		349,349	3.2	1.0	4		103	0,8600		0,0,4300	no	missense,missense	D4S234E	NM_001040101.1,NM_014392.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	117/186,117/186	4411402	1,13005	2203	4300	6503	4462303	SO:0001583	missense	27065	exon4																														ENST00000421177.2:c.349G>A	4.37:g.4411402G>A	ENSP00000388823:p.Val117Ile		4462303	NM_001040101	B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476147	0.63737	2.27E-4	0.0	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	3.99	3.15	0.36227	.	0.159501	0.41001	N	0.000970	T	0.66005	0.2746	L	0.47716	1.5	0.58432	D	0.999997	D;P	0.59357	0.985;0.838	D;B	0.68621	0.959;0.228	T	0.63945	-0.6522	9	0.41790	T	0.15	-21.191	11.6461	0.51261	0.0872:0.0:0.9128:0.0	.	78;117	B4DXC5;P42857	.;NSG1_HUMAN	I	117;117;117;117;117;117;78	.	ENSP00000381049:V117I	V	+	1	0	AC110814.1	4462303	1.000000	0.71417	0.977000	0.42913	0.845000	0.48019	2.073000	0.41519	0.885000	0.36088	0.561000	0.74099	GTC		0.597	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1		
EVC	2121	broad.mit.edu	37	4	5750009	5750009	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:5750009C>T	ENST00000264956.6	+	8	1258	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	EVC_ENST00000509451.1_Silent_p.C358C|EVC_ENST00000382674.2_Silent_p.C358C	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	358					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C358C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCTATTGTGCGATTCTCAGG	0.498																																					p.C358C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1074T	4						.						64.0	63.0	63.0					4																	5750009		2203	4300	6503	5800910	SO:0001819	synonymous_variant	1400	exon8			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1074C>T	4.37:g.5750009C>T			5800910	NM_153717		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1																																																																																				0.498	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
JAKMIP1	152789	broad.mit.edu	37	4	6031507	6031507	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:6031507C>A	ENST00000409021.3	-	20	2830	c.2381G>T	c.(2380-2382)aGa>aTa	p.R794I	JAKMIP1_ENST00000409371.3_Splice_Site_p.R609I	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.R794I(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCTCGGATTCTCTGAAATAC	0.428																																					p.R794I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2381T	4						.						90.0	81.0	84.0					4																	6031507		1849	4101	5950	6082408	SO:0001630	splice_region_variant	152789	exon20			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2380-1G>T	4.37:g.6031507C>A			6082408	NM_001099433	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Nonsense_Mutation	SNP	ENST00000409021.3	37	CCDS47005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.49|18.49	3.635057|3.635057	0.67130|0.67130	.|.	.|.	ENSG00000152969|ENSG00000152969	ENST00000418227|ENST00000409021;ENST00000409371;ENST00000425341	.|T;T	.|0.45276	.|1.34;0.9	4.68|4.68	3.82|3.82	0.43975|0.43975	.|.	.|0.096906	.|0.39083	.|U	.|0.001469	T|T	0.46092|0.46092	0.1375|0.1375	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;D	.|0.58268	.|0.384;0.982	.|B;P	.|0.50708	.|0.203;0.648	T|T	0.45891|0.45891	-0.9230|-0.9230	5|9	0.12103|0.66056	T|D	0.63|0.02	.|.	6.9067|6.9067	0.24313|0.24313	0.0:0.7856:0.0:0.2144|0.0:0.7856:0.0:0.2144	.|.	.|609;794	.|Q96N16-5;Q96N16-2	.|.;.	D|I	383|794;609;532	.|ENSP00000386711:R794I;ENSP00000387042:R609I	ENSP00000406526:E383D|ENSP00000386711:R794I	E|R	-|-	3|2	2|0	JAKMIP1|JAKMIP1	6082408|6082408	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.600000|0.600000	0.36913|0.36913	4.806000|4.806000	0.62569|0.62569	1.078000|1.078000	0.41014|0.41014	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.428	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720	Missense_Mutation
JAKMIP1	152789	broad.mit.edu	37	4	6062164	6062164	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:6062164A>G	ENST00000282924.5	-	11	2116	c.1631T>C	c.(1630-1632)gTt>gCt	p.V544A	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.V359A|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.V544A|JAKMIP1_ENST00000457227.2_5'Flank|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.V379A|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.V544A	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	544	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.V544A(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCTTCTCAACCAGTAACTT	0.547																																					p.V544A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1631C	4						.						216.0	204.0	208.0					4																	6062164		2203	4300	6503	6113065	SO:0001583	missense	152789	exon11			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1631T>C	4.37:g.6062164A>G	ENSP00000282924:p.Val544Ala		6113065	NM_144720	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	A	1.826	-0.471036	0.04445	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.26810	2.13;1.74;2.12;2.12;1.71	4.52	0.739	0.18324	.	0.440276	0.20709	N	0.087140	T	0.04363	0.0120	N	0.00237	-1.79	0.24428	N	0.994582	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.42155	-0.9468	10	0.02654	T	1	.	7.4783	0.27390	0.6436:0.0:0.3564:0.0	.	379;359;544;544	B4DHZ8;Q96N16-5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	A	544;359;436;544;544;379	ENSP00000386711:V544A;ENSP00000387042:V359A;ENSP00000282924:V544A;ENSP00000386925:V544A;ENSP00000386745:V379A	ENSP00000282924:V544A	V	-	2	0	JAKMIP1	6113065	0.980000	0.34600	0.701000	0.30321	0.996000	0.88848	2.349000	0.44054	-0.086000	0.12550	0.454000	0.30748	GTT		0.547	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
PSAPL1	768239	broad.mit.edu	37	4	7435848	7435848	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:7435848G>T	ENST00000319098.4	-	1	852	c.759C>A	c.(757-759)ttC>ttA	p.F253L	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	253	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.F253L(1)		lung(4)	4						GCTCCTCACAGAATCCCCCCT	0.602																																					p.S253Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C758A	4						.						49.0	52.0	51.0					4																	7435848		1940	4141	6081	7486749	SO:0001583	missense	768239	exon1			DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.759C>A	4.37:g.7435848G>T	ENSP00000317445:p.Phe253Leu		7486749	NM_001085382	A0A184|Q8N7T4	Missense_Mutation	SNP	ENST00000319098.4	37	CCDS47009.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842589	0.32606	.	.	ENSG00000178597	ENST00000319098	T	0.70516	-0.49	3.64	2.78	0.32641	Saposin-like (2);Saposin B (2);	.	.	.	.	T	0.62417	0.2426	M	0.62088	1.915	0.42671	D	0.99351	B	0.27351	0.176	B	0.23716	0.048	T	0.56068	-0.8040	9	0.25751	T	0.34	.	8.3858	0.32499	0.0:0.0:0.7653:0.2347	.	253	Q6NUJ1	SAPL1_HUMAN	L	253	ENSP00000317445:F253L	ENSP00000317445:F253L	F	-	3	2	PSAPL1	7486749	0.700000	0.27796	0.933000	0.37362	0.006000	0.05464	1.209000	0.32357	0.856000	0.35383	-0.314000	0.08810	TTC		0.602	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1		
SORCS2	57537	broad.mit.edu	37	4	7719822	7719822	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:7719822C>T	ENST00000507866.2	+	18	2445	c.2336C>T	c.(2335-2337)cCg>cTg	p.P779L	SORCS2_ENST00000329016.9_Missense_Mutation_p.P607L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	779					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.P629L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCCTCACGCCGCCCCGGGGC	0.647																																					p.P779L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2336T	4						.						30.0	36.0	34.0					4																	7719822		2086	4189	6275	7770722	SO:0001583	missense	57537	exon18			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2336C>T	4.37:g.7719822C>T	ENSP00000422185:p.Pro779Leu		7770722	NM_020777	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961864	0.34659	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.66280	-0.2;-0.2	4.41	3.57	0.40892	VPS10 (1);PKD domain (1);	0.233816	0.35708	N	0.003026	T	0.54287	0.1849	L	0.55481	1.735	0.52501	D	0.99995	P;P	0.46656	0.807;0.882	B;B	0.37989	0.178;0.262	T	0.60495	-0.7252	10	0.66056	D	0.02	.	12.3485	0.55134	0.0:0.9178:0.0:0.0822	.	607;779	B5MED8;Q96PQ0	.;SORC2_HUMAN	L	779;607	ENSP00000422185:P779L;ENSP00000329124:P607L	ENSP00000329124:P607L	P	+	2	0	SORCS2	7770722	1.000000	0.71417	0.534000	0.28014	0.215000	0.24574	3.813000	0.55636	1.080000	0.41073	-0.136000	0.14681	CCG		0.647	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
ACOX3	8310	broad.mit.edu	37	4	8416596	8416596	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:8416596C>A	ENST00000356406.5	-	4	515	c.438G>T	c.(436-438)aaG>aaT	p.K146N	ACOX3_ENST00000413009.2_Missense_Mutation_p.K146N|ACOX3_ENST00000503233.1_Missense_Mutation_p.K146N	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	146					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.K146N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCCTGAAGATCTTTTGAATAT	0.398																																					p.K146N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	4						.						105.0	99.0	101.0					4																	8416596		2203	4300	6503	8467496	SO:0001583	missense	8310	exon4			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.438G>T	4.37:g.8416596C>A	ENSP00000348775:p.Lys146Asn		8467496	NM_003501	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	8.751	0.921355	0.17982	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233;ENST00000514423	T;T;T;D	0.99032	-0.14;-0.14;-0.14;-5.35	3.9	3.04	0.35103	Acyl-CoA dehydrogenase/oxidase (1);	0.497690	0.22163	N	0.063754	D	0.97303	0.9118	M	0.82323	2.585	0.19300	N	0.999976	B;P;B	0.35600	0.047;0.511;0.047	B;B;B	0.34346	0.052;0.18;0.052	D	0.91583	0.5280	10	0.20519	T	0.43	-25.535	3.7285	0.08484	0.0:0.578:0.239:0.1831	.	146;146;146	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	N	146;146;146;51	ENSP00000413994:K146N;ENSP00000348775:K146N;ENSP00000421625:K146N;ENSP00000427321:K51N	ENSP00000348775:K146N	K	-	3	2	ACOX3	8467496	0.842000	0.29525	0.034000	0.17996	0.002000	0.02628	1.455000	0.35190	2.179000	0.69175	0.655000	0.94253	AAG		0.398	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
GPR78	27201	broad.mit.edu	37	4	8588877	8588877	+	Silent	SNP	G	G	A	rs546309729	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:8588877G>A	ENST00000382487.4	+	3	1296	c.879G>A	c.(877-879)acG>acA	p.T293T	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	293					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T293T(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ACCCGTTCACGTACTCTCTGC	0.667																																					p.T293T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G879A	4						.						43.0	44.0	43.0					4																	8588877		2203	4300	6503	8639777	SO:0001819	synonymous_variant	27201	exon3			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.879G>A	4.37:g.8588877G>A			8639777	NM_080819	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																				0.667	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		
CPZ	8532	broad.mit.edu	37	4	8607857	8607857	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:8607857G>A	ENST00000360986.4	+	5	1025	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CPZ_ENST00000315782.6_Missense_Mutation_p.R273H|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.R147H	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	284					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R284H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACACCACCCGCATCCACCTG	0.647																																					p.R273H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G818A	4						.						105.0	77.0	86.0					4																	8607857		2203	4300	6503	8658757	SO:0001583	missense	8532	exon4			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.851G>A	4.37:g.8607857G>A	ENSP00000354255:p.Arg284His		8658757	NM_003652	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	27.9	4.870707	0.91587	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.11930	2.73;2.73;2.73	3.41	3.41	0.39046	Peptidase M14, carboxypeptidase A (1);	0.143185	0.46758	U	0.000273	T	0.36054	0.0953	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.35276	-0.9795	10	0.87932	D	0	-23.2622	14.9821	0.71319	0.0:0.0:1.0:0.0	.	273;284	Q66K79-2;Q66K79	.;CBPZ_HUMAN	H	284;147;273	ENSP00000354255:R284H;ENSP00000371920:R147H;ENSP00000315074:R273H	ENSP00000315074:R273H	R	+	2	0	CPZ	8658757	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.462000	0.90374	1.750000	0.51863	0.461000	0.40582	CGC		0.647	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
DRD5	1816	broad.mit.edu	37	4	9783904	9783904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:9783904C>T	ENST00000304374.2	+	1	647	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	84					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)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.A84V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTGTCTCTGGCCGTGTCAGAC	0.637																																					p.A84V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251T	4						.						54.0	47.0	49.0					4																	9783904		2203	4300	6503	9393002	SO:0001583	missense	1816	exon1			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.251C>T	4.37:g.9783904C>T	ENSP00000306129:p.Ala84Val		9393002	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.647727	0.87958	.	.	ENSG00000169676	ENST00000304374	T	0.56275	0.47	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92253	0.5810	10	0.87932	D	0	.	15.5246	0.75894	0.0:1.0:0.0:0.0	.	84	P21918	DRD5_HUMAN	V	84	ENSP00000306129:A84V	ENSP00000306129:A84V	A	+	2	0	DRD5	9393002	1.000000	0.71417	0.882000	0.34594	0.925000	0.55904	7.297000	0.78799	2.130000	0.65690	0.305000	0.20034	GCC		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
SLC2A9	56606	broad.mit.edu	37	4	9982321	9982321	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:9982321G>A	ENST00000264784.3	-	5	629	c.576C>T	c.(574-576)atC>atT	p.I192I	SLC2A9_ENST00000506583.1_Silent_p.I163I|SLC2A9_ENST00000309065.3_Silent_p.I163I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	192					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.I163I(1)|p.I192I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCTTGGGTGAGATCTCACTAA	0.587																																					p.I163I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C489T	4						.						70.0	64.0	66.0					4																	9982321		2203	4300	6503	9591419	SO:0001819	synonymous_variant	56606	exon6			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.576C>T	4.37:g.9982321G>A			9591419	NM_001001290	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	CCDS3407.1																																																																																				0.587	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1		
SLIT2	9353	broad.mit.edu	37	4	20598048	20598048	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:20598048T>G	ENST00000504154.1	+	32	3583	c.3331T>G	c.(3331-3333)Tgt>Ggt	p.C1111G	SLIT2_ENST00000503823.1_Missense_Mutation_p.C1103G|SLIT2_ENST00000503837.1_Missense_Mutation_p.C1107G|SLIT2_ENST00000273739.5_Missense_Mutation_p.C1124G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1111	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.C1111G(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCTTGTTCTGTGAGTTTTC	0.368																																					p.C1111G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3331G	4						.						69.0	73.0	72.0					4																	20598048		2203	4300	6503	20207146	SO:0001583	missense	9353	exon32			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3331T>G	4.37:g.20598048T>G	ENSP00000422591:p.Cys1111Gly		20207146	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289459	0.80914	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	6.08	6.08	0.98989	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97808	1.0249	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	1103;1111	O94813-3;O94813	.;SLIT2_HUMAN	G	1103;1111;1124;1107;1107	ENSP00000427548:C1103G;ENSP00000422591:C1111G;ENSP00000273739:C1124G;ENSP00000422261:C1107G	ENSP00000273739:C1124G	C	+	1	0	SLIT2	20207146	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.622000	0.83099	2.333000	0.79357	0.482000	0.46254	TGT		0.368	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
GPR125	166647	broad.mit.edu	37	4	22389381	22389381	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:22389381C>T	ENST00000334304.5	-	19	4182	c.3913G>A	c.(3913-3915)Gat>Aat	p.D1305N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1305					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.D1305N(1)		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)				CCAGTGCTATCGGTACCGAGC	0.433																																					p.D1305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3913A	4						.						113.0	106.0	108.0					4																	22389381		2203	4300	6503	21998479	SO:0001583	missense	166647	exon19			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.3913G>A	4.37:g.22389381C>T	ENSP00000334952:p.Asp1305Asn		21998479	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997071	0.74818	.	.	ENSG00000152990	ENST00000334304	T	0.62232	0.04	5.67	4.81	0.61882	.	0.280117	0.40144	N	0.001172	T	0.61022	0.2314	M	0.64170	1.965	0.80722	D	1	P;P	0.48640	0.882;0.913	B;B	0.39771	0.309;0.223	T	0.68172	-0.5479	10	0.66056	D	0.02	-14.6756	16.7437	0.85466	0.0:0.8707:0.1293:0.0	.	1162;1305	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	N	1305	ENSP00000334952:D1305N	ENSP00000334952:D1305N	D	-	1	0	GPR125	21998479	1.000000	0.71417	0.004000	0.12327	0.838000	0.47535	7.252000	0.78309	1.475000	0.48197	0.655000	0.94253	GAT		0.433	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
SLC34A2	10568	broad.mit.edu	37	4	25676002	25676002	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:25676002C>A	ENST00000382051.3	+	11	1351	c.1301C>A	c.(1300-1302)tCt>tAt	p.S434Y	SLC34A2_ENST00000503434.1_Missense_Mutation_p.S433Y|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S433Y	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	434					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.S434Y(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAGAGCAGCTCTGTGTTCACG	0.562			T	ROS1	NSCLC																																p.S433Y			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1298A	4						.						221.0	180.0	194.0					4																	25676002		2203	4300	6503	25285100	SO:0001583	missense	10568	exon11			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1301C>A	4.37:g.25676002C>A	ENSP00000371483:p.Ser434Tyr		25285100	NM_001177999	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538572	0.85917	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.90324	-2.65;-2.65;-2.65	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.96037	0.8709	H	0.96604	3.85	0.80722	D	1	B;P	0.46457	0.325;0.878	B;P	0.50825	0.315;0.651	D	0.97370	0.9975	10	0.87932	D	0	-12.8955	19.0968	0.93255	0.0:1.0:0.0:0.0	.	433;434	O95436-2;O95436	.;NPT2B_HUMAN	Y	433;434;433	ENSP00000425501:S433Y;ENSP00000371483:S434Y;ENSP00000423021:S433Y	ENSP00000371483:S434Y	S	+	2	0	SLC34A2	25285100	1.000000	0.71417	0.984000	0.44739	0.978000	0.69477	6.087000	0.71362	2.596000	0.87737	0.561000	0.74099	TCT		0.562	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	
ARAP2	116984	broad.mit.edu	37	4	36168645	36168645	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:36168645T>G	ENST00000303965.4	-	10	2371	c.1882A>C	c.(1882-1884)Acc>Ccc	p.T628P		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	628	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.T628P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GGAATTATGGTAATACCAAGT	0.294																																					p.T628P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1882C	4						.						83.0	82.0	82.0					4																	36168645		2202	4299	6501	35845040	SO:0001583	missense	116984	exon10			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1882A>C	4.37:g.36168645T>G	ENSP00000302895:p.Thr628Pro		35845040	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807426	0.70797	.	.	ENSG00000047365	ENST00000303965	T	0.75367	-0.93	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.185209	0.46758	D	0.000266	D	0.82582	0.5068	L	0.55990	1.75	0.38827	D	0.955759	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.943	D	0.83881	0.0279	10	0.46703	T	0.11	.	14.3176	0.66463	0.0:0.0:0.0:1.0	.	558;628	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	P	628	ENSP00000302895:T628P	ENSP00000302895:T628P	T	-	1	0	ARAP2	35845040	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.696000	0.54757	2.184000	0.69523	0.528000	0.53228	ACC		0.294	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
ARAP2	116984	broad.mit.edu	37	4	36214091	36214091	+	Missense_Mutation	SNP	C	C	T	rs551766032		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:36214091C>T	ENST00000303965.4	-	5	1549	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	354					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.E354K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTCAAAAATTCATTCTTTATA	0.338																																					p.E354K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1060A	4						.						110.0	104.0	106.0					4																	36214091		2203	4299	6502	35890486	SO:0001583	missense	116984	exon5			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1060G>A	4.37:g.36214091C>T	ENSP00000302895:p.Glu354Lys		35890486	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431272	0.62844	.	.	ENSG00000047365	ENST00000303965	T	0.08008	3.14	5.64	5.64	0.86602	.	0.169713	0.41823	D	0.000810	T	0.26738	0.0654	M	0.62723	1.935	0.40465	D	0.98028	D;P	0.76494	0.999;0.671	D;B	0.78314	0.991;0.259	T	0.00138	-1.2002	10	0.66056	D	0.02	.	15.5457	0.76097	0.0:1.0:0.0:0.0	.	284;354	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	K	354	ENSP00000302895:E354K	ENSP00000302895:E354K	E	-	1	0	ARAP2	35890486	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.511000	0.45476	2.803000	0.96430	0.655000	0.94253	GAA		0.338	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
PGM2	55276	broad.mit.edu	37	4	37863134	37863134	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:37863134T>C	ENST00000381967.4	+	14	1840	c.1740T>C	c.(1738-1740)gaT>gaC	p.D580D	PGM2_ENST00000537241.1_Silent_p.D420D	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	580					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.D580D(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTCCAGTGATCCTGAGCAGC	0.408																																					p.D580D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1740C	4						.						159.0	170.0	166.0					4																	37863134		2203	4300	6503	37539529	SO:0001819	synonymous_variant	55276	exon14			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.1740T>C	4.37:g.37863134T>C			37539529	NM_018290	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	CCDS3443.1																																																																																				0.408	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290	
TLR1	7096	broad.mit.edu	37	4	38799674	38799674	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:38799674G>T	ENST00000502213.2	-	3	1008	c.779C>A	c.(778-780)tCt>tAt	p.S260Y	TLR1_ENST00000308979.2_Missense_Mutation_p.S260Y			Q15399	TLR1_HUMAN	toll-like receptor 1	260					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S260Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CCTAATGAAAGAATTCCAAGT	0.358																																					p.S260Y	GBM(5;216 373 40795 46382)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C779A	4						.						65.0	71.0	69.0					4																	38799674		2203	4299	6502	38476069	SO:0001583	missense	7096	exon4			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.779C>A	4.37:g.38799674G>T	ENSP00000421259:p.Ser260Tyr		38476069	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.810184	0.00606	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.38560	1.13;1.13	4.69	1.67	0.24075	.	1.002020	0.08047	N	0.996105	T	0.32823	0.0842	L	0.57536	1.79	0.09310	N	1	B	0.27166	0.17	B	0.28553	0.091	T	0.34104	-0.9842	10	0.07813	T	0.8	.	3.6709	0.08273	0.0857:0.2143:0.4601:0.2399	.	260	Q15399	TLR1_HUMAN	Y	260	ENSP00000354932:S260Y;ENSP00000421259:S260Y	ENSP00000354932:S260Y	S	-	2	0	TLR1	38476069	0.000000	0.05858	0.049000	0.19019	0.069000	0.16628	-0.599000	0.05700	0.622000	0.30249	-0.165000	0.13383	TCT		0.358	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
FAM114A1	92689	broad.mit.edu	37	4	38924481	38924481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:38924481G>T	ENST00000358869.2	+	9	1212	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	FAM114A1_ENST00000515037.1_Nonsense_Mutation_p.E139*	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	346						cytoplasm (GO:0005737)		p.E346*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGCAGCCAAAGAATTAGAGAA	0.333																																					p.E346X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1036T	4						.						83.0	83.0	83.0					4																	38924481		2203	4300	6503	38600876	SO:0001587	stop_gained	92689	exon9				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.1036G>T	4.37:g.38924481G>T	ENSP00000351740:p.Glu346*		38600876	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Nonsense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	39	7.501639	0.98322	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	.	.	.	5.8	5.8	0.92144	.	0.207753	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.6151	20.0566	0.97653	0.0:0.0:1.0:0.0	.	.	.	.	X	139;346;139	.	ENSP00000347569:E139X	E	+	1	0	FAM114A1	38600876	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.995000	0.57001	2.750000	0.94351	0.467000	0.42956	GAA		0.333	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
KLHL5	51088	broad.mit.edu	37	4	39064633	39064633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:39064633G>T	ENST00000504108.1	+	1	782	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	KLHL5_ENST00000359687.2_Nonsense_Mutation_p.E167*|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261425.3_Nonsense_Mutation_p.E121*|KLHL5_ENST00000381930.3_Nonsense_Mutation_p.E167*|KLHL5_ENST00000261426.5_Nonsense_Mutation_p.E167*	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	167						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E167*(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGAAGAAAATGAATCTGATTC	0.388																																					p.E167X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G499T	4						.						74.0	79.0	77.0					4																	39064633		2203	4300	6503	38741028	SO:0001587	stop_gained	51088	exon1			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.499G>T	4.37:g.39064633G>T	ENSP00000423897:p.Glu167*		38741028	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Nonsense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857496	0.91433	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	.	.	.	5.54	5.54	0.83059	.	0.221527	0.38837	N	0.001553	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	201;121;167;167;167;167	.	ENSP00000261425:E121X	E	+	1	0	KLHL5	38741028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.245000	0.65405	2.765000	0.95021	0.655000	0.94253	GAA		0.388	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
KLHL5	51088	broad.mit.edu	37	4	39083717	39083717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:39083717C>T	ENST00000504108.1	+	4	1259	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	KLHL5_ENST00000359687.2_Missense_Mutation_p.R326C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R139C|KLHL5_ENST00000261425.3_Missense_Mutation_p.R280C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R326C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R265C	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	39291539	39291539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:39291539C>A	ENST00000381897.1	-	24	3425	c.3292G>T	c.(3292-3294)Gaa>Taa	p.E1098*	RFC1_ENST00000349703.2_Nonsense_Mutation_p.E1097*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1098					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.E1097*(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCATTTAATTCTTCATTGTAT	0.408																																					p.E1097X	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3289T	4						.						234.0	230.0	232.0					4																	39291539		2203	4300	6503	38967934	SO:0001587	stop_gained	5981	exon24			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.3292G>T	4.37:g.39291539C>A	ENSP00000371321:p.Glu1098*		38967934	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Nonsense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.203287|7.203287	0.98132|0.98132	.|.	.|.	ENSG00000035928|ENSG00000035928	ENST00000381897;ENST00000349703|ENST00000514572	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.595355|.	0.17057|.	N|.	0.188691|.	.|T	.|0.80059	.|0.4554	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77627	.|-0.2517	.|3	0.09084|.	T|.	0.74|.	-13.3244|-13.3244	20.1218|20.1218	0.97964|0.97964	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1098;1097|74	.|.	ENSP00000261424:E1097X|.	E|R	-|-	1|2	0|0	RFC1|RFC1	38967934|38967934	1.000000|1.000000	0.71417|0.71417	0.134000|0.134000	0.22075|0.22075	0.074000|0.074000	0.17049|0.17049	7.453000|7.453000	0.80700|0.80700	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.408	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
RFC1	5981	broad.mit.edu	37	4	39310615	39310615	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:39310615T>G	ENST00000381897.1	-	13	1659	c.1526A>C	c.(1525-1527)aAa>aCa	p.K509T	RFC1_ENST00000349703.2_Missense_Mutation_p.K509T	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	509					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.K509T(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGGACATTTTTTTGGGGTGT	0.363																																					p.K509T	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1526C	4						.						59.0	63.0	62.0					4																	39310615		2203	4298	6501	38987010	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.1526A>C	4.37:g.39310615T>G	ENSP00000371321:p.Lys509Thr		38987010	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056709	0.55325	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.54866	0.55;0.55	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.91635	0.918;0.999	T	0.68914	-0.5283	10	0.35671	T	0.21	-22.793	16.3512	0.83208	0.0:0.0:0.0:1.0	.	509;509	P35251;P35251-2	RFC1_HUMAN;.	T	509	ENSP00000371321:K509T;ENSP00000261424:K509T	ENSP00000261424:K509T	K	-	2	0	RFC1	38987010	1.000000	0.71417	0.972000	0.41901	0.313000	0.28021	5.505000	0.66981	2.266000	0.75297	0.533000	0.62120	AAA		0.363	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
LIAS	11019	broad.mit.edu	37	4	39469209	39469209	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:39469209C>T	ENST00000513731.1	+	3	342	c.290C>T	c.(289-291)gCt>gTt	p.A97V	LIAS_ENST00000381846.1_Intron|LIAS_ENST00000340169.2_Missense_Mutation_p.A227V|LIAS_ENST00000261434.3_Missense_Mutation_p.A227V					lipoic acid synthetase									p.A227V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						GAAAAAGTTGCTCTGTCAGGA	0.398																																					p.A227V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680T	4						.						143.0	139.0	140.0					4																	39469209		2203	4300	6503	39145604	SO:0001583	missense	11019	exon7			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	ENST00000513731.1:c.290C>T	4.37:g.39469209C>T	ENSP00000425580:p.Ala97Val		39145604	NM_194451		Missense_Mutation	SNP	ENST00000513731.1	37		.	.	.	.	.	.	.	.	.	.	C	26.5	4.747383	0.89663	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731	T;T;T	0.78126	-1.15;-1.15;-1.15	5.89	5.04	0.67666	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.046736	0.85682	D	0.000000	T	0.74535	0.3729	L	0.28192	0.835	0.80722	D	1	P;P	0.50617	0.937;0.581	P;P	0.51701	0.677;0.447	T	0.73927	-0.3828	10	0.39692	T	0.17	-15.625	14.5609	0.68136	0.0:0.9289:0.0:0.0711	.	97;227	D6RCP8;O43766	.;LIAS_HUMAN	V	227;227;97	ENSP00000340676:A227V;ENSP00000261434:A227V;ENSP00000425580:A97V	ENSP00000261434:A227V	A	+	2	0	LIAS	39145604	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.589000	0.61006	2.788000	0.95919	0.557000	0.71058	GCT		0.398	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1	NM_194451	
PDS5A	23244	broad.mit.edu	37	4	39863852	39863852	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:39863852G>A	ENST00000303538.8	-	26	3612	c.3073C>T	c.(3073-3075)Cgt>Tgt	p.R1025C		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.R1025C(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGATATCACGAAGCTGATCA	0.284																																					p.R1025C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3073T	4						.						59.0	54.0	56.0					4																	39863852		1819	4059	5878	39540247	SO:0001583	missense	23244	exon26			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3073C>T	4.37:g.39863852G>A	ENSP00000303427:p.Arg1025Cys		39540247	NM_001100399		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261223	0.80246	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.58	5.58	0.84498	Armadillo-like helical (1);	0.046548	0.85682	D	0.000000	T	0.71617	0.3361	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	P	0.61397	0.888	T	0.68277	-0.5451	8	.	.	.	-11.019	19.5837	0.95482	0.0:0.0:1.0:0.0	.	1025	Q29RF7	PDS5A_HUMAN	C	1025	.	.	R	-	1	0	PDS5A	39540247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.099000	0.71466	2.630000	0.89119	0.655000	0.94253	CGT		0.284	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
N4BP2	55728	broad.mit.edu	37	4	40123770	40123770	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:40123770A>C	ENST00000261435.6	+	9	4455	c.4039A>C	c.(4039-4041)Agt>Cgt	p.S1347R		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1347					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.S1347R(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGCAGGAAGTAGTTTATCAGC	0.368																																					p.S1347R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4039C	4						.						89.0	94.0	92.0					4																	40123770		2203	4300	6503	39800165	SO:0001583	missense	55728	exon9			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4039A>C	4.37:g.40123770A>C	ENSP00000261435:p.Ser1347Arg		39800165	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.238|2.238	-0.374435|-0.374435	0.05034|0.05034	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18016|.	2.24|.	5.55|5.55	-1.21|-1.21	0.09524|0.09524	.|.	0.892312|.	0.09856|.	N|.	0.746909|.	T|.	0.18087|.	0.0434|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.007;0.004|.	B;B|.	0.10450|.	0.005;0.002|.	T|.	0.30621|.	-0.9972|.	10|.	0.14252|.	T|.	0.57|.	-2.0144|-2.0144	10.7076|10.7076	0.45965|0.45965	0.5453:0.0:0.4547:0.0|0.5453:0.0:0.4547:0.0	.|.	1347;1347|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	R|S	1347;1267|993	ENSP00000261435:S1347R|.	ENSP00000261435:S1347R|.	S|X	+|+	1|2	0|0	N4BP2|N4BP2	39800165|39800165	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.013000|0.013000	0.08279|0.08279	1.117000|1.117000	0.31234|0.31234	-0.182000|-0.182000	0.10602|0.10602	-1.054000|-1.054000	0.02325|0.02325	AGT|TAG		0.368	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
CHRNA9	55584	broad.mit.edu	37	4	40337967	40337967	+	Missense_Mutation	SNP	C	C	T	rs375832887		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:40337967C>T	ENST00000310169.2	+	2	327	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	63					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.T63M(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	CTGCAGATTACGCTCTCTCAG	0.388																																					p.T63M	Esophageal Squamous(115;1297 1602 22235 25158 43327)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C188T	4						.	C	MET/THR	0,4406		0,0,2203	183.0	171.0	175.0		188	5.8	0.9	4		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRNA9	NM_017581.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	63/480	40337967	1,13005	2203	4300	6503	40032724	SO:0001583	missense	55584	exon2			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.188C>T	4.37:g.40337967C>T	ENSP00000312663:p.Thr63Met		40032724	NM_017581	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472914	0.84640	0.0	1.16E-4	ENSG00000174343	ENST00000310169	T	0.78595	-1.19	5.76	5.76	0.90799	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88687	0.3206	10	0.66056	D	0.02	.	19.9765	0.97312	0.0:1.0:0.0:0.0	.	63	Q9UGM1	ACHA9_HUMAN	M	63	ENSP00000312663:T63M	ENSP00000312663:T63M	T	+	2	0	CHRNA9	40032724	1.000000	0.71417	0.932000	0.37286	0.672000	0.39443	7.487000	0.81328	2.733000	0.93635	0.467000	0.42956	ACG		0.388	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1		
PHOX2B	8929	broad.mit.edu	37	4	41749496	41749496	+	Missense_Mutation	SNP	C	C	T	rs104893855		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:41749496C>T	ENST00000226382.2	-	2	658	c.299G>A	c.(298-300)cGc>cAc	p.R100H	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	100			R -> L (confers susceptibility to neuroblastoma; found as germline mutation in a neuroblastoma family). {ECO:0000269|PubMed:15024693}.		autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.R100H(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGTGCGGATGCGCCGCTGCTT	0.577			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.R100H		yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	4	GRCh37	CM041818	PHOX2B	M	rs104893855	.						74.0	77.0	76.0					4																	41749496		2203	4300	6503	41444253	SO:0001583	missense	8929	exon2	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.299G>A	4.37:g.41749496C>T	ENSP00000226382:p.Arg100His		41444253	NM_003924	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.274071|4.274071	0.80580|0.80580	.|.	.|.	ENSG00000109132|ENSG00000109132	ENST00000510424|ENST00000226382	.|D	.|0.96885	.|-4.16	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98947|0.98947	0.9642|0.9642	H|H	0.97214|0.97214	3.96|3.96	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.99239|0.99239	1.0884|1.0884	5|10	.|0.87932	.|D	.|0	.|.	19.366|19.366	0.94461|0.94461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|100	.|Q99453	.|PHX2B_HUMAN	T|H	40|100	.|ENSP00000226382:R100H	.|ENSP00000226382:R100H	A|R	-|-	1|2	0|0	PHOX2B|PHOX2B	41444253|41444253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.604000|7.604000	0.82830|0.82830	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.577	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2		
TMEM33	55161	broad.mit.edu	37	4	41946922	41946922	+	Missense_Mutation	SNP	C	C	T	rs140993747		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:41946922C>T	ENST00000504986.1	+	5	874	c.509C>T	c.(508-510)gCg>gTg	p.A170V	TMEM33_ENST00000325094.5_Missense_Mutation_p.A170V|TMEM33_ENST00000513702.1_Missense_Mutation_p.A170V	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	170						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)		p.A170V(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTGATGCCTGCGACAGTTTTT	0.318																																					p.A170V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C509T	4						.	C	VAL/ALA	0,4404		0,0,2202	86.0	89.0	88.0		509	5.4	1.0	4	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	no	missense	TMEM33	NM_018126.2	64	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign	170/248	41946922	2,13002	2202	4300	6502	41641679	SO:0001583	missense	55161	exon5			BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.509C>T	4.37:g.41946922C>T	ENSP00000422473:p.Ala170Val		41641679	NM_018126	B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	CCDS3464.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.36|13.36	2.214146|2.214146	0.39102|0.39102	0.0|0.0	2.33E-4|2.33E-4	ENSG00000109133|ENSG00000109133	ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094|ENST00000513558	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69214|.	0.3086|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P|.	0.39250|.	0.665|.	B|.	0.29942|.	0.109|.	T|.	0.64943|.	-0.6288|.	9|.	0.19590|.	T|.	0.45|.	-10.3795|-10.3795	19.2675|19.2675	0.93996|0.93996	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	170|.	P57088|.	TMM33_HUMAN|.	V|X	170|104	.|.	ENSP00000441455:A170V|.	A|R	+|+	2|1	0|2	TMEM33|TMEM33	41641679|41641679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	7.818000|7.818000	0.86416|0.86416	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.318	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126	
GABRA2	2555	broad.mit.edu	37	4	46312201	46312201	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:46312201T>G	ENST00000510861.1	-	6	721	c.548A>C	c.(547-549)aAa>aCa	p.K183T	GABRA2_ENST00000356504.1_Missense_Mutation_p.K183T|GABRA2_ENST00000540012.1_Missense_Mutation_p.K128T|GABRA2_ENST00000381620.4_Missense_Mutation_p.K183T|GABRA2_ENST00000514090.1_Missense_Mutation_p.K183T|GABRA2_ENST00000507069.1_Missense_Mutation_p.K183T|GABRA2_ENST00000515082.1_Missense_Mutation_p.K183T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	183					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.K183T(1)		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)	GCTGCCAAATTTCAGAGGACA	0.383																																					p.K183T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A548C	4						.						129.0	124.0	126.0					4																	46312201		2203	4300	6503	46006958	SO:0001583	missense	2555	exon6				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.548A>C	4.37:g.46312201T>G	ENSP00000421828:p.Lys183Thr		46006958	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664561	0.88251	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.9	5.9	0.94986	Neurotransmitter-gated ion-channel ligand-binding (3);	0.044849	0.85682	D	0.000000	D	0.87470	0.6185	L	0.53249	1.67	0.58432	D	0.999998	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.91635	0.973;0.915;0.999	D	0.88147	0.2848	10	0.62326	D	0.03	.	15.5133	0.75802	0.0:0.0:0.0:1.0	.	128;183;183	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	T	183;183;183;183;128;183;183	ENSP00000421828:K183T;ENSP00000421300:K183T;ENSP00000371033:K183T;ENSP00000348897:K183T;ENSP00000444409:K128T;ENSP00000427603:K183T;ENSP00000423840:K183T	ENSP00000348897:K183T	K	-	2	0	GABRA2	46006958	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.021000	0.88750	2.251000	0.74343	0.528000	0.53228	AAA		0.383	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRA4	2557	broad.mit.edu	37	4	46976370	46976370	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:46976370C>A	ENST00000264318.3	-	6	1582	c.600G>T	c.(598-600)atG>atT	p.M200I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	200					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|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.M200I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					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)	AGGTATAGATCATCTCACTCT	0.403																																					p.M200I	Ovarian(6;283 369 8234 12290 33402)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G600T	4						.						104.0	96.0	98.0					4																	46976370		2203	4299	6502	46671127	SO:0001583	missense	2557	exon6				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.600G>T	4.37:g.46976370C>A	ENSP00000264318:p.Met200Ile		46671127	NM_000809	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	5.191	0.220722	0.09863	.	.	ENSG00000109158	ENST00000264318	T	0.74632	-0.86	5.25	5.25	0.73442	Neurotransmitter-gated ion-channel ligand-binding (3);	0.037264	0.85682	D	0.000000	T	0.33847	0.0877	N	0.00205	-1.85	0.47123	D	0.999322	B	0.15930	0.015	B	0.19946	0.027	T	0.54029	-0.8354	10	0.02654	T	1	.	11.432	0.50047	0.0:0.9185:0.0:0.0815	.	200	P48169	GBRA4_HUMAN	I	200	ENSP00000264318:M200I	ENSP00000264318:M200I	M	-	3	0	GABRA4	46671127	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.915000	0.39976	2.727000	0.93392	0.650000	0.86243	ATG		0.403	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
GABRB1	2560	broad.mit.edu	37	4	47163449	47163449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:47163449C>T	ENST00000295454.3	+	4	716	c.424C>T	c.(424-426)Cga>Tga	p.R142*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.R72*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	142					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.R142*(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)	TCGAATGATTCGACTGCATCC	0.393																																					p.R142X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C424T	4						.						154.0	142.0	146.0					4																	47163449		2203	4300	6503	46858206	SO:0001587	stop_gained	2560	exon4				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.424C>T	4.37:g.47163449C>T	ENSP00000295454:p.Arg142*		46858206	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Nonsense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449489	0.84101	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	.	.	.	4.85	3.98	0.46160	.	0.098362	0.40728	N	0.001038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3953	13.2241	0.59905	0.1656:0.8344:0.0:0.0	.	.	.	.	X	109;142;72	.	ENSP00000295454:R142X	R	+	1	2	GABRB1	46858206	1.000000	0.71417	0.992000	0.48379	0.845000	0.48019	3.864000	0.56024	1.197000	0.43143	0.555000	0.69702	CGA		0.393	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
CORIN	10699	broad.mit.edu	37	4	47667088	47667088	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:47667088T>G	ENST00000273857.4	-	11	1549	c.1550A>C	c.(1549-1551)aAa>aCa	p.K517T	CORIN_ENST00000505909.1_Missense_Mutation_p.K480T|CORIN_ENST00000504584.1_Missense_Mutation_p.K480T|CORIN_ENST00000508498.1_Missense_Mutation_p.K378T|CORIN_ENST00000502252.1_Missense_Mutation_p.K450T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	517	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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.K517T(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						CACATCACATTTTGGTACCAA	0.443																																					p.K517T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1550C	4						.						94.0	95.0	94.0					4																	47667088		2203	4300	6503	47361845	SO:0001583	missense	10699	exon11			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.1550A>C	4.37:g.47667088T>G	ENSP00000273857:p.Lys517Thr		47361845	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559795	0.65538	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.25	5.25	0.73442	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	L	0.55017	1.72	0.52099	D	0.999944	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.79784	0.979;0.979;0.971;0.993	D	0.84674	0.0713	10	0.66056	D	0.02	.	15.3369	0.74263	0.0:0.0:0.0:1.0	.	480;480;450;517	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	T	517;378;450;480;480	ENSP00000273857:K517T;ENSP00000425597:K378T;ENSP00000424212:K450T;ENSP00000425401:K480T;ENSP00000423216:K480T	ENSP00000273857:K517T	K	-	2	0	CORIN	47361845	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	5.384000	0.66225	2.204000	0.70986	0.528000	0.53228	AAA		0.443	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
TXK	7294	broad.mit.edu	37	4	48114516	48114516	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:48114516C>T	ENST00000264316.4	-	4	273	c.188G>A	c.(187-189)cGt>cAt	p.R63H	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	63			R -> C (in dbSNP:rs41265727). {ECO:0000269|PubMed:17344846}.		activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)	p.R63H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CGGCTGCACACGGCCCGTGTT	0.433																																					p.R63H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	4						.						81.0	82.0	82.0					4																	48114516		2203	4300	6503	47809273	SO:0001583	missense	7294	exon4			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.188G>A	4.37:g.48114516C>T	ENSP00000264316:p.Arg63His		47809273	NM_003328	Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	9.439	1.087682	0.20390	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.16897	2.31;2.31	4.94	-2.33	0.06724	Src homology-3 domain (1);	1.500250	0.04115	N	0.315326	T	0.07908	0.0198	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37197	-0.9716	10	0.42905	T	0.14	.	10.3766	0.44085	0.0:0.3746:0.0:0.6254	.	63;63	E7EQN8;P42681	.;TXK_HUMAN	H	63	ENSP00000264316:R63H;ENSP00000422798:R63H	ENSP00000264316:R63H	R	-	2	0	TXK	47809273	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.198000	0.03035	-0.474000	0.06862	0.563000	0.77884	CGT		0.433	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328	
PDGFRA	5156	broad.mit.edu	37	4	55144636	55144636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:55144636G>T	ENST00000257290.5	+	15	2441	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.E464*	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	704	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.E704*(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)	GCCAAAGAAAGAGCTGGATAT	0.428			"""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.E704X	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2110T	4						.						96.0	94.0	95.0					4																	55144636		2203	4300	6503	54839393	SO:0001587	stop_gained	5156	exon15	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.2110G>T	4.37:g.55144636G>T	ENSP00000257290:p.Glu704*		54839393	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Nonsense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	40	8.113613	0.98659	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	.	.	.	6.06	6.06	0.98353	.	0.252557	0.20401	U	0.093057	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	464;704	.	ENSP00000423325:E464X	E	+	1	0	FIP1L1;PDGFRA	54839393	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.733000	0.84916	2.882000	0.98803	0.655000	0.94253	GAG		0.428	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55161379	55161379	+	Silent	SNP	C	C	T	rs149498489		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:55161379C>T	ENST00000257290.5	+	23	3541	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	FIP1L1_ENST00000507166.1_Silent_p.I830I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1070	Ser-rich.				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.I1070I(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)	TTGAAGACATCGACATGATGG	0.547			"""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.I1070I	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3210T	4						.	C		2,4404	4.2+/-10.8	0,2,2201	166.0	147.0	154.0		3210	-0.0	1.0	4	dbSNP_134	154	0,8600		0,0,4300	no	coding-synonymous	PDGFRA	NM_006206.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1070/1090	55161379	2,13004	2203	4300	6503	54856136	SO:0001819	synonymous_variant	5156	exon23	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.3210C>T	4.37:g.55161379C>T			54856136	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.547	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
KIT	3815	broad.mit.edu	37	4	55592169	55592169	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:55592169G>A	ENST00000288135.5	+	9	1590	c.1493G>A	c.(1492-1494)gGc>gAc	p.G498D		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	498	Ig-like C2-type 5.				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.G498D(1)|p.E490_F504>DHIVVSLTF(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)	AACGATGTGGGCAAGACTTCT	0.393		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.G498D		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"""	.	.	2	Substitution - Missense(1)|Complex - deletion inframe(1)	large_intestine(1)|soft_tissue(1)	c.G1493A	4						.						130.0	116.0	121.0					4																	55592169		2203	4300	6503	55286926	SO:0001583	missense	3815	exon9	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.1493G>A	4.37:g.55592169G>A	ENSP00000288135:p.Gly498Asp		55286926	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513294	0.44660	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.80566	-1.39;1.92	6.02	6.02	0.97574	Immunoglobulin-like fold (1);	0.090328	0.48286	D	0.000186	T	0.75155	0.3811	M	0.61703	1.905	0.43149	D	0.994912	B;B	0.30179	0.271;0.121	B;B	0.26969	0.075;0.025	T	0.71324	-0.4627	10	0.33940	T	0.23	.	9.377	0.38290	0.1178:0.0:0.8822:0.0	.	498;498	P10721-2;P10721	.;KIT_HUMAN	D	498	ENSP00000288135:G498D;ENSP00000390987:G498D	ENSP00000288135:G498D	G	+	2	0	KIT	55286926	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.898000	0.48672	2.865000	0.98341	0.655000	0.94253	GGC		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KDR	3791	broad.mit.edu	37	4	55973917	55973917	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:55973917C>T	ENST00000263923.4	-	10	1694	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	467	Ig-like C2-type 5.				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.A467T(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)	GGCTCGTTGGCGCACTCTTCC	0.507			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.A467T			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1399A	4						.						178.0	151.0	160.0					4																	55973917		2203	4300	6503	55668674	SO:0001583	missense	3791	exon10			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.1399G>A	4.37:g.55973917C>T	ENSP00000263923:p.Ala467Thr		55668674	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725398	0.30593	.	.	ENSG00000128052	ENST00000263923	T	0.75704	-0.96	5.29	-1.9	0.07665	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.491755	0.23881	N	0.043659	T	0.27798	0.0684	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38045	-0.9679	10	0.15952	T	0.53	.	1.1243	0.01732	0.2775:0.3139:0.1096:0.299	.	467;467	P35968-2;P35968	.;VGFR2_HUMAN	T	467	ENSP00000263923:A467T	ENSP00000263923:A467T	A	-	1	0	KDR	55668674	0.984000	0.35163	0.002000	0.10522	0.467000	0.32768	0.515000	0.22801	-0.996000	0.03455	-0.647000	0.03941	GCC		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
SRD5A3	79644	broad.mit.edu	37	4	56230311	56230311	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:56230311C>T	ENST00000264228.4	+	3	663	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	145					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.F145F(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GAAGACTCTTCGAGTGCCTCT	0.478																																					p.F145F												.	.	2	Substitution - coding silent(2)	cervix(1)|large_intestine(1)	c.C435T	4						.						279.0	225.0	243.0					4																	56230311		2203	4300	6503	55925068	SO:0001819	synonymous_variant	79644	exon3			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.435C>T	4.37:g.56230311C>T			55925068	NM_024592	Q4W5Q6	Silent	SNP	ENST00000264228.4	37	CCDS3498.1																																																																																				0.478	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592	
NMU	10874	broad.mit.edu	37	4	56482536	56482536	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:56482536G>A	ENST00000264218.3	-	3	293	c.188C>T	c.(187-189)tCg>tTg	p.S63L	NMU_ENST00000505262.1_Missense_Mutation_p.S63L|NMU_ENST00000507338.1_Missense_Mutation_p.S63L|NMU_ENST00000511469.1_Intron|NMU_ENST00000515325.1_5'UTR	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	63					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		CAGAAAAGACGAACAAGTATC	0.343																																					p.S63L												.	.	0			c.C188T	4						.						110.0	102.0	105.0					4																	56482536		2203	4300	6503	56177293	SO:0001583	missense	10874	exon3			X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.188C>T	4.37:g.56482536G>A	ENSP00000264218:p.Ser63Leu		56177293	NM_006681		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616977	0.46736	.	.	ENSG00000109255	ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T	0.50548	1.08;0.92;0.74	5.56	3.82	0.43975	.	0.174459	0.39210	N	0.001440	T	0.40067	0.1102	L	0.49126	1.545	0.32398	N	0.552378	B	0.24768	0.111	B	0.14578	0.011	T	0.49908	-0.8889	10	0.56958	D	0.05	-16.2381	10.2183	0.43182	0.1595:0.0:0.8405:0.0	.	63	P48645	NMU_HUMAN	L	63	ENSP00000264218:S63L;ENSP00000424246:S63L;ENSP00000422870:S63L	ENSP00000264218:S63L	S	-	2	0	NMU	56177293	0.987000	0.35691	0.381000	0.26106	0.396000	0.30629	2.075000	0.41538	0.812000	0.34326	0.655000	0.94253	TCG		0.343	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2		
CEP135	9662	broad.mit.edu	37	4	56840962	56840962	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:56840962A>C	ENST00000257287.4	+	11	1424	c.1300A>C	c.(1300-1302)Aaa>Caa	p.K434Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	434					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.K434Q(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)					ACATGGAATAAAACGTCGAGA	0.343																																					p.K434Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1300C	4						.						90.0	90.0	90.0					4																	56840962		2203	4300	6503	56535719	SO:0001583	missense	9662	exon11			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.1300A>C	4.37:g.56840962A>C	ENSP00000257287:p.Lys434Gln		56535719	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654721	0.47467	.	.	ENSG00000174799	ENST00000257287	T	0.39787	1.06	5.64	2.85	0.33270	.	0.314677	0.39615	N	0.001310	T	0.27169	0.0666	L	0.50333	1.59	0.23809	N	0.996786	P	0.39717	0.684	B	0.37144	0.242	T	0.06789	-1.0807	10	0.16896	T	0.51	.	2.2561	0.04055	0.5898:0.1567:0.1021:0.1513	.	434	Q66GS9	CP135_HUMAN	Q	434	ENSP00000257287:K434Q	ENSP00000257287:K434Q	K	+	1	0	CEP135	56535719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.678000	0.37586	2.143000	0.66587	0.374000	0.22700	AAA		0.343	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
REST	5978	broad.mit.edu	37	4	57797299	57797299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:57797299G>T	ENST00000309042.7	+	4	2589	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	759	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M753_P768delMEVVQKEPVKIELSPP(1)|p.E759*(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGTCCAGAAGGAACCTGTTAA	0.557																																					p.E759X												.	.	2	Substitution - Nonsense(1)|Deletion - In frame(1)	large_intestine(1)|central_nervous_system(1)	c.G2275T	4						.						254.0	269.0	264.0					4																	57797299		2203	4300	6503	57492056	SO:0001587	stop_gained	5978	exon4			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2275G>T	4.37:g.57797299G>T	ENSP00000311816:p.Glu759*		57492056	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Nonsense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	37	6.209190	0.97376	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	.	.	.	2.53	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.2273	7.5836	0.27980	0.139:0.0:0.861:0.0	.	.	.	.	X	759;736	.	ENSP00000311816:E759X	E	+	1	0	REST	57492056	0.029000	0.19370	0.001000	0.08648	0.019000	0.09904	2.380000	0.44327	0.606000	0.29965	0.491000	0.48974	GAA		0.557	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612	
LPHN3	23284	broad.mit.edu	37	4	62758570	62758570	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:62758570C>T	ENST00000514591.1	+	9	1802	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	LPHN3_ENST00000504896.1_Silent_p.I491I|LPHN3_ENST00000507164.1_Silent_p.I559I|LPHN3_ENST00000506746.1_Silent_p.I559I|LPHN3_ENST00000509896.1_Silent_p.I559I|LPHN3_ENST00000507625.1_Silent_p.I559I|LPHN3_ENST00000514996.1_Silent_p.I491I|LPHN3_ENST00000514157.1_Silent_p.I491I|LPHN3_ENST00000545650.1_Silent_p.I491I|LPHN3_ENST00000506700.1_Silent_p.I491I|LPHN3_ENST00000508946.1_Silent_p.I491I|LPHN3_ENST00000506720.1_Silent_p.I559I|LPHN3_ENST00000508693.1_Silent_p.I559I|LPHN3_ENST00000511324.1_Silent_p.I559I|LPHN3_ENST00000512091.2_Silent_p.I491I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	491					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.I491I(2)		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						CGTCCCAAATCCCAGCTCTCG	0.517																																					p.I491I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1473T	4						.						90.0	83.0	85.0					4																	62758570		1928	4132	6060	62441165	SO:0001819	synonymous_variant	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.1473C>T	4.37:g.62758570C>T			62441165	NM_015236	E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	CCDS54768.1																																																																																				0.517	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LPHN3	23284	broad.mit.edu	37	4	62775333	62775333	+	Missense_Mutation	SNP	G	G	T	rs192210727	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:62775333G>T	ENST00000514591.1	+	11	2068	c.1739G>T	c.(1738-1740)aGa>aTa	p.R580I	LPHN3_ENST00000504896.1_Missense_Mutation_p.R580I|LPHN3_ENST00000507164.1_Missense_Mutation_p.R648I|LPHN3_ENST00000506746.1_Missense_Mutation_p.R648I|LPHN3_ENST00000509896.1_Missense_Mutation_p.R648I|LPHN3_ENST00000507625.1_Missense_Mutation_p.R648I|LPHN3_ENST00000514996.1_Missense_Mutation_p.R580I|LPHN3_ENST00000514157.1_Missense_Mutation_p.R580I|LPHN3_ENST00000545650.1_Missense_Mutation_p.R580I|LPHN3_ENST00000506700.1_Missense_Mutation_p.R580I|LPHN3_ENST00000508946.1_Missense_Mutation_p.R580I|LPHN3_ENST00000506720.1_Missense_Mutation_p.R648I|LPHN3_ENST00000508693.1_Missense_Mutation_p.R648I|LPHN3_ENST00000511324.1_Missense_Mutation_p.R648I|LPHN3_ENST00000512091.2_Missense_Mutation_p.R580I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	580					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.R580I(2)		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						GAACAGACAAGAAATCACTTG	0.458													G|||	17	0.00339457	0.0	0.0	5008	,	,		14596	0.0169		0.0	False		,,,				2504	0.0				p.R580I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1739T	4						.	G	ILE/ARG	1,3823		0,1,1911	48.0	49.0	49.0		1739	4.7	1.0	4		49	0,8248		0,0,4124	yes	missense	LPHN3	NM_015236.4	97	0,1,6035	TT,TG,GG		0.0,0.0262,0.0083	benign	580/1470	62775333	1,12071	1912	4124	6036	62457928	SO:0001583	missense	23284	exon9			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.1739G>T	4.37:g.62775333G>T	ENSP00000422533:p.Arg580Ile		62457928	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	5|5	0.0022893772893772895|0.0022893772893772895	0|0	0.0|0.0	0|0	0.0|0.0	5|5	0.008741258741258742|0.008741258741258742	0|0	0.0|0.0	G|G	20.7|20.7	4.027489|4.027489	0.75390|0.75390	2.62E-4|2.62E-4	0.0|0.0	ENSG00000150471|ENSG00000150471	ENST00000502815|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	.|0.10573	.|2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.5|5.5	4.65|4.65	0.58169|0.58169	.|.	.|0.095676	.|0.64402	.|D	.|0.000001	T|T	0.09024|0.09024	0.0223|0.0223	N|N	0.24115|0.24115	0.695|0.695	0.53688|0.53688	D|D	0.999974|0.999974	.|D;P	.|0.54397	.|0.966;0.681	.|P;B	.|0.52109	.|0.69;0.372	T|T	0.00677|0.00677	-1.1614|-1.1614	5|10	.|0.87932	.|D	.|0	.|.	11.5098|11.5098	0.50486|0.50486	0.1369:0.0:0.8631:0.0|0.1369:0.0:0.8631:0.0	.|.	.|580;580	.|E9PE04;Q9HAR2-2	.|.;.	N|I	50|580;580;648;648;580;580;580;580;580;648;648;648;580;580;580;648;648;580	.|ENSP00000423388:R580I;ENSP00000422533:R580I;ENSP00000423787:R648I;ENSP00000425033:R648I;ENSP00000424120:R580I;ENSP00000439831:R580I;ENSP00000421476:R648I;ENSP00000424030:R648I;ENSP00000421372:R648I;ENSP00000425201:R580I;ENSP00000423434:R580I;ENSP00000421627:R580I;ENSP00000420931:R648I;ENSP00000425884:R648I;ENSP00000424258:R580I	.|ENSP00000280009:R580I	K|R	+|+	3|2	2|0	LPHN3|LPHN3	62457928|62457928	0.996000|0.996000	0.38824|0.38824	0.990000|0.990000	0.47175|0.47175	0.886000|0.886000	0.51366|0.51366	3.753000|3.753000	0.55180|0.55180	2.773000|2.773000	0.95371|0.95371	0.644000|0.644000	0.83932|0.83932	AAG|AGA		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
TECRL	253017	broad.mit.edu	37	4	65146790	65146790	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:65146790A>C	ENST00000381210.3	-	11	1043	c.933T>G	c.(931-933)atT>atG	p.I311M	TECRL_ENST00000507440.1_Missense_Mutation_p.I311M	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	311					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.I311M(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTGAAACTAATCCATGATC	0.294																																					p.I311M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T933G	4						.						116.0	100.0	105.0					4																	65146790		2201	4295	6496	64829385	SO:0001583	missense	253017	exon11			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.933T>G	4.37:g.65146790A>C	ENSP00000370607:p.Ile311Met		64829385	NM_001010874		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281571	0.59758	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.37915	1.17;1.17	4.83	3.65	0.41850	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.221507	0.41097	D	0.000944	T	0.45696	0.1355	M	0.66560	2.04	0.44104	D	0.996878	P	0.45634	0.863	P	0.53518	0.728	T	0.44574	-0.9319	10	0.59425	D	0.04	-10.4431	6.629	0.22847	0.892:0.0:0.108:0.0	.	311	Q5HYJ1	TECRL_HUMAN	M	311	ENSP00000426043:I311M;ENSP00000370607:I311M	ENSP00000370607:I311M	I	-	3	3	TECRL	64829385	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.984000	0.40658	1.924000	0.55735	0.477000	0.44152	ATT		0.294	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	
CENPC	1060	broad.mit.edu	37	4	68385153	68385153	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:68385153C>T	ENST00000273853.6	-	6	649	c.399G>A	c.(397-399)tcG>tcA	p.S133S		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	133					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)										ATATTTTTTTCGAGTCAGGTG	0.328																																					p.S133S												.	.	0			c.G399A	4						.						66.0	59.0	61.0					4																	68385153		1809	4090	5899	68067748	SO:0001819	synonymous_variant	1060	exon6			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.399G>A	4.37:g.68385153C>T			68067748	NM_001812	Q8IW27|Q9P0M5	Silent	SNP	ENST00000273853.6	37	CCDS47063.1																																																																																				0.328	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		
UBA6	55236	broad.mit.edu	37	4	68496215	68496215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:68496215G>A	ENST00000322244.5	-	26	2356	c.2297C>T	c.(2296-2298)gCt>gTt	p.A766V		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	766					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.A766V(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATATACTGTAGCATATAGTTT	0.308																																					p.A766V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2297T	4						.						78.0	71.0	74.0					4																	68496215		2197	4292	6489	68178810	SO:0001583	missense	55236	exon26			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.2297C>T	4.37:g.68496215G>A	ENSP00000313454:p.Ala766Val		68178810	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712306	0.89112	.	.	ENSG00000033178	ENST00000322244	T	0.51071	0.72	4.91	4.91	0.64330	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81309	-0.0991	10	0.87932	D	0	-25.8397	17.8937	0.88880	0.0:0.0:1.0:0.0	.	766	A0AVT1	UBA6_HUMAN	V	766	ENSP00000313454:A766V	ENSP00000313454:A766V	A	-	2	0	UBA6	68178810	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.442000	0.80503	2.538000	0.85594	0.563000	0.77884	GCT		0.308	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
UBA6	55236	broad.mit.edu	37	4	68544195	68544195	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:68544195G>A	ENST00000322244.5	-	5	374	c.315C>T	c.(313-315)ttC>ttT	p.F105F	UBA6_ENST00000420827.2_Silent_p.F105F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	105					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.F105F(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CACTGAGAAAGAAGTTGGTTC	0.299																																					p.F105F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	4						.						75.0	76.0	75.0					4																	68544195		2203	4298	6501	68226790	SO:0001819	synonymous_variant	55236	exon5			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.315C>T	4.37:g.68544195G>A			68226790	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	CCDS3516.1																																																																																				0.299	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
YTHDC1	91746	broad.mit.edu	37	4	69198517	69198517	+	Missense_Mutation	SNP	C	C	T	rs142607687		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:69198517C>T	ENST00000344157.4	-	6	1357	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R341Q|YTHDC1_ENST00000355665.3_Intron	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	341					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R341Q(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						GATACCTTTTCGGACAGCACG	0.318																																					p.R341Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022A	4						.	C	,GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	96.0	86.0	90.0		,1022	5.3	1.0	4	dbSNP_134	90	0,8598		0,0,4299	no	intron,missense	YTHDC1	NM_133370.2,NM_001031732.2	,43	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,benign	,341/728	69198517	1,13001	2202	4299	6501	68881112	SO:0001583	missense	91746	exon6			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.1022G>A	4.37:g.69198517C>T	ENSP00000339245:p.Arg341Gln		68881112	NM_001031732	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123287	0.37436	2.27E-4	0.0	ENSG00000083896	ENST00000344157	T	0.24538	1.85	5.3	5.3	0.74995	.	0.067156	0.64402	D	0.000011	T	0.20981	0.0505	L	0.51422	1.61	0.52501	D	0.999954	B	0.22211	0.066	B	0.14578	0.011	T	0.04551	-1.0943	10	0.12766	T	0.61	.	10.5483	0.45072	0.0:0.8805:0.0:0.1195	.	341	Q96MU7	YTDC1_HUMAN	Q	341	ENSP00000339245:R341Q	ENSP00000339245:R341Q	R	-	2	0	YTHDC1	68881112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.107000	0.64603	2.642000	0.89623	0.460000	0.39030	CGA		0.318	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
YTHDC1	91746	broad.mit.edu	37	4	69202828	69202828	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:69202828C>T	ENST00000344157.4	-	4	1135	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R267Q|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R267Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	267					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R267Q(2)		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						GGCCTCACTTCGAGTGTCATA	0.468																																					p.R267Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G800A	4						.						209.0	147.0	168.0					4																	69202828		2203	4300	6503	68885423	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.800G>A	4.37:g.69202828C>T	ENSP00000339245:p.Arg267Gln		68885423	NM_001031732	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701637	0.68501	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30182	1.54;1.6	5.73	4.89	0.63831	.	0.194283	0.45606	N	0.000349	T	0.25344	0.0616	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.12630	0.006;0.003	B;B	0.09377	0.004;0.002	T	0.03175	-1.1064	10	0.62326	D	0.03	.	14.591	0.68365	0.0:0.9302:0.0:0.0698	.	267;267	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Q	267	ENSP00000339245:R267Q;ENSP00000347888:R267Q	ENSP00000339245:R267Q	R	-	2	0	YTHDC1	68885423	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.021000	0.76425	1.442000	0.47568	0.585000	0.79938	CGA		0.468	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
UGT2B7	7364	broad.mit.edu	37	4	69962369	69962369	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:69962369A>G	ENST00000508661.1	+	1	158	c.131A>G	c.(130-132)gAt>gGt	p.D44G	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.D44G			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	44					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.D44G(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAATCCTGGATGAGCTTATT	0.413																																					p.D44G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A131G	4						.						126.0	130.0	129.0					4																	69962369		2203	4300	6503	69996958	SO:0001583	missense	7364	exon1			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.131A>G	4.37:g.69962369A>G	ENSP00000427659:p.Asp44Gly		69996958	NM_001074	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	A	12.62	1.991607	0.35131	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61980	0.06;0.06	2.54	2.54	0.30619	.	0.336041	0.23345	U	0.049198	T	0.72590	0.3479	M	0.86651	2.83	0.24021	N	0.996145	P;B	0.42357	0.777;0.273	P;P	0.51550	0.673;0.474	T	0.64495	-0.6394	9	.	.	.	.	8.5583	0.33494	1.0:0.0:0.0:0.0	.	44;44	E9PBP8;P16662	.;UD2B7_HUMAN	G	44	ENSP00000304811:D44G;ENSP00000427659:D44G	.	D	+	2	0	UGT2B7	69996958	0.969000	0.33509	0.022000	0.16811	0.002000	0.02628	3.999000	0.57031	1.157000	0.42530	0.260000	0.18958	GAT		0.413	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074	
UGT2B7	7364	broad.mit.edu	37	4	69974024	69974024	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:69974024G>T	ENST00000305231.7	+	5	1340	c.1294G>T	c.(1294-1296)Gta>Tta	p.V432L	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	432					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.V432L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATTGAAGAGAGTAATTAATGA	0.393																																					p.V432L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1294T	4						.						178.0	173.0	175.0					4																	69974024		2203	4300	6503	70008613	SO:0001583	missense	7364	exon5			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1294G>T	4.37:g.69974024G>T	ENSP00000304811:p.Val432Leu		70008613	NM_001074	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132792	0.37630	.	.	ENSG00000171234	ENST00000305231	T	0.63580	-0.05	2.72	1.87	0.25490	.	0.000000	0.64402	U	0.000009	T	0.59918	0.2229	M	0.71296	2.17	0.80722	D	1	P	0.43024	0.798	B	0.44085	0.44	T	0.56492	-0.7970	9	.	.	.	.	7.6967	0.28598	0.1358:0.0:0.8642:0.0	.	432	P16662	UD2B7_HUMAN	L	432	ENSP00000304811:V432L	.	V	+	1	0	UGT2B7	70008613	1.000000	0.71417	0.008000	0.14137	0.004000	0.04260	5.108000	0.64609	0.479000	0.27511	-0.320000	0.08662	GTA		0.393	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074	
UGT2B28	54490	broad.mit.edu	37	4	70155432	70155432	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:70155432C>A	ENST00000335568.5	+	4	1054	c.1052C>A	c.(1051-1053)aCt>aAt	p.T351N	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	351					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.T351N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GGTCTCAATACTCGGCTGTAT	0.363																																					p.T351N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1052A	4						.						105.0	138.0	126.0					4																	70155432		1489	2705	4194	70190021	SO:0001583	missense	54490	exon4			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1052C>A	4.37:g.70155432C>A	ENSP00000334276:p.Thr351Asn		70190021	NM_053039	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	10.60	1.394473	0.25205	.	.	ENSG00000135226	ENST00000335568	T	0.65916	-0.18	1.85	1.85	0.25348	.	0.000000	0.64402	U	0.000001	D	0.83622	0.5294	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85678	0.1299	10	0.87932	D	0	.	9.3109	0.37903	0.0:1.0:0.0:0.0	.	351	Q9BY64	UDB28_HUMAN	N	351	ENSP00000334276:T351N	ENSP00000334276:T351N	T	+	2	0	UGT2B28	70190021	1.000000	0.71417	0.403000	0.26384	0.024000	0.10985	6.442000	0.73443	1.023000	0.39654	0.184000	0.17185	ACT		0.363	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
FDCSP	260436	broad.mit.edu	37	4	71099797	71099797	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:71099797C>T	ENST00000317987.5	+	4	263	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	51	Pro-rich.					extracellular region (GO:0005576)		p.R51C(1)									ATATCCATTTCGCCCACTTCC	0.403																																					p.R51C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C151T	4						.						193.0	195.0	195.0					4																	71099797		2203	4300	6503	71134386	SO:0001583	missense	260436	exon4			AF435080	CCDS3537.1	4q13	2011-12-12	2011-12-12	2011-12-12	ENSG00000181617	ENSG00000181617			19215	protein-coding gene	gene with protein product		607241	"""chromosome 4 open reading frame 7"""	C4orf7		12193705, 17548624, 20811673	Standard	NM_152997		Approved	FDC-SP	uc003hfd.3	Q8NFU4	OTTHUMG00000129393	ENST00000317987.5:c.151C>T	4.37:g.71099797C>T	ENSP00000318437:p.Arg51Cys		71134386	NM_152997		Missense_Mutation	SNP	ENST00000317987.5	37	CCDS3537.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324845	0.24080	.	.	ENSG00000181617	ENST00000317987	.	.	.	4.14	0.445	0.16597	.	0.868014	0.09777	N	0.757181	T	0.31670	0.0804	.	.	.	0.09310	N	1	D	0.56521	0.976	P	0.44696	0.458	T	0.19451	-1.0305	8	0.52906	T	0.07	2.1963	7.9252	0.29870	0.0958:0.5045:0.3997:0.0	.	51	Q8NFU4	FDSCP_HUMAN	C	51	.	ENSP00000318437:R51C	R	+	1	0	C4orf7	71134386	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.260000	0.18424	0.037000	0.15575	-0.974000	0.02594	CGC		0.403	FDCSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251549.1	NM_152997	
AMBN	258	broad.mit.edu	37	4	71465287	71465287	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:71465287C>A	ENST00000322937.6	+	5	321	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	AMBN_ENST00000449493.2_Missense_Mutation_p.S73Y	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	73					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.S73Y(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCATTTAATTCTTTGTGGATG	0.348																																					p.S73Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C218A	4						.						91.0	91.0	91.0					4																	71465287		2203	4300	6503	71499876	SO:0001583	missense	258	exon5			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.218C>A	4.37:g.71465287C>A	ENSP00000313809:p.Ser73Tyr		71499876	NM_016519	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826222	0.50739	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.42131	0.98;0.98	5.72	4.86	0.63082	.	0.399103	0.24301	N	0.039732	T	0.60728	0.2291	M	0.67953	2.075	0.33990	D	0.649053	D	0.71674	0.998	D	0.70487	0.969	T	0.73729	-0.3891	10	0.72032	D	0.01	-13.2111	12.4019	0.55418	0.0:0.8236:0.1764:0.0	.	73	Q9NP70	AMBN_HUMAN	Y	73	ENSP00000313809:S73Y;ENSP00000391234:S73Y	ENSP00000313809:S73Y	S	+	2	0	AMBN	71499876	0.995000	0.38212	1.000000	0.80357	0.444000	0.32077	0.990000	0.29642	1.370000	0.46153	0.591000	0.81541	TCT		0.348	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519	
SLC4A4	8671	broad.mit.edu	37	4	72363252	72363252	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:72363252C>T	ENST00000264485.5	+	16	2126	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	SLC4A4_ENST00000351898.6_Missense_Mutation_p.S670L|SLC4A4_ENST00000340595.3_Missense_Mutation_p.S626L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S670L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	670					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S626L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCATTTTTGTCGAAGAAGGAG	0.363																																					p.S670L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2009T	4						.						79.0	78.0	78.0					4																	72363252		2203	4300	6503	72582116	SO:0001583	missense	8671	exon16			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2009C>T	4.37:g.72363252C>T	ENSP00000264485:p.Ser670Leu		72582116	NM_001134742	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498234	0.44455	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.62	5.62	0.85841	Bicarbonate transporter, C-terminal (1);	0.308244	0.36519	N	0.002543	T	0.77611	0.4156	M	0.71036	2.16	0.47621	D	0.999479	B;B;B;B	0.33964	0.015;0.434;0.003;0.004	B;B;B;B	0.27887	0.029;0.084;0.006;0.029	T	0.78132	-0.2323	10	0.56958	D	0.05	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	670;670;626;670	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	L	670;670;670;626	ENSP00000264485:S670L;ENSP00000393557:S670L;ENSP00000307349:S670L;ENSP00000344272:S626L	ENSP00000264485:S670L	S	+	2	0	SLC4A4	72582116	0.892000	0.30473	0.852000	0.33557	0.081000	0.17604	4.750000	0.62162	2.809000	0.96659	0.655000	0.94253	TCG		0.363	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
GC	2638	broad.mit.edu	37	4	72623787	72623787	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:72623787G>A	ENST00000273951.8	-	7	1146	c.803C>T	c.(802-804)tCt>tTt	p.S268F	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.S287F|GC_ENST00000513476.1_Missense_Mutation_p.S268F|RNA5SP163_ENST00000410304.1_RNA	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	268	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.S268F(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TTCAGAGGCAGACTCACAGCA	0.433																																					p.S268F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C803T	4						.						123.0	111.0	115.0					4																	72623787		2203	4300	6503	72842651	SO:0001583	missense	2638	exon7			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.803C>T	4.37:g.72623787G>A	ENSP00000273951:p.Ser268Phe		72842651	NM_000583	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465484	0.63513	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	D;D;D	0.86562	-2.14;-2.14;-2.14	5.68	5.68	0.88126	.	0.202307	0.43110	D	0.000619	D	0.93569	0.7947	M	0.76002	2.32	0.46701	D	0.999166	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.93790	0.7091	10	0.87932	D	0	.	19.3736	0.94500	0.0:0.0:1.0:0.0	.	287;268	D6RAK8;D6RF35	.;.	F	268;287;268	ENSP00000273951:S268F;ENSP00000421725:S287F;ENSP00000426683:S268F	ENSP00000273951:S268F	S	-	2	0	GC	72842651	1.000000	0.71417	0.998000	0.56505	0.388000	0.30384	6.126000	0.71635	2.675000	0.91044	0.655000	0.94253	TCT		0.433	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2		
COX18	285521	broad.mit.edu	37	4	73931080	73931080	+	Missense_Mutation	SNP	C	C	T	rs199728913		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:73931080C>T	ENST00000295890.4	-	3	576	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	COX18_ENST00000507544.2_Missense_Mutation_p.R162Q	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	162					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)	p.R162Q(1)		large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTTATCTCGCACATATAG	0.433																																					p.R162Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G485A	4						.						120.0	114.0	116.0					4																	73931080		2203	4300	6503	74149944	SO:0001583	missense	285521	exon3			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.485G>A	4.37:g.73931080C>T	ENSP00000295890:p.Arg162Gln		74149944	NM_173827	Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Missense_Mutation	SNP	ENST00000295890.4	37	CCDS3554.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319296	0.95682	.	.	ENSG00000163626	ENST00000295890;ENST00000507544	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.971	T	0.76503	-0.2935	9	0.35671	T	0.21	-16.9273	19.5175	0.95170	0.0:1.0:0.0:0.0	.	162;162	B7ZL88;Q8N8Q8	.;COX18_HUMAN	Q	162	.	ENSP00000295890:R162Q	R	-	2	0	COX18	74149944	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.922000	0.75811	2.780000	0.95670	0.655000	0.94253	CGA		0.433	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827	
ALB	213	broad.mit.edu	37	4	74270880	74270880	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:74270880T>G	ENST00000295897.4	+	2	216	c.127T>G	c.(127-129)Ttc>Gtc	p.F43V	ALB_ENST00000509063.1_Missense_Mutation_p.F43V|ALB_ENST00000415165.2_Missense_Mutation_p.F43V|ALB_ENST00000401494.3_Missense_Mutation_p.F43V|ALB_ENST00000503124.1_Intron	NM_000477.5	NP_000468.1	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.F43V(1)		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)			AGAAGAAAATTTCAAAGCCTT	0.308																																					p.F43V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T127G	4						.						68.0	73.0	72.0					4																	74270880		2202	4300	6502	74489744	SO:0001583	missense	213	exon2			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	ENST00000295897.4:c.127T>G	4.37:g.74270880T>G	ENSP00000295897:p.Phe43Val		74489744	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579460	0.28180	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.77098	-1.07;-1.07;-1.05;-1.07;-0.85	5.65	3.2	0.36748	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.061993	0.64402	D	0.000004	T	0.81331	0.4800	L	0.52759	1.655	0.37797	D	0.927564	D;B;P;P	0.69078	0.997;0.137;0.898;0.755	D;B;P;P	0.70227	0.968;0.12;0.679;0.547	T	0.82894	-0.0231	10	0.87932	D	0	-31.1488	7.4532	0.27250	0.1394:0.0:0.1444:0.7161	.	43;43;43;43	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	V	45;43;43;43;43;43;52	ENSP00000392541:F45V;ENSP00000295897:F43V;ENSP00000401820:F43V;ENSP00000422784:F43V;ENSP00000384695:F43V	ENSP00000295897:F43V	F	+	1	0	ALB	74489744	0.953000	0.32496	0.947000	0.38551	0.021000	0.10359	1.714000	0.37961	2.371000	0.80710	0.533000	0.62120	TTC		0.308	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477	
RASSF6	166824	broad.mit.edu	37	4	74464384	74464384	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:74464384C>T	ENST00000342081.3	-	3	343	c.213G>A	c.(211-213)caG>caA	p.Q71Q	RASSF6_ENST00000307439.5_Silent_p.Q39Q|RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000395777.2_Silent_p.Q39Q	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	71					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)			p.Q71Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCAGATTTTTCTGGTTCTCAT	0.328																																					p.Q39Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G117A	4						.						71.0	70.0	70.0					4																	74464384		2201	4298	6499	74683248	SO:0001819	synonymous_variant	166824	exon3			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.213G>A	4.37:g.74464384C>T			74683248	NM_177532	Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	CCDS3558.1																																																																																				0.328	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532	
CXCL6	6372	broad.mit.edu	37	4	74702964	74702964	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:74702964C>T	ENST00000226317.5	+	3	541	c.287C>T	c.(286-288)gCc>gTc	p.A96V	CXCL6_ENST00000503446.1_3'UTR|CXCL6_ENST00000515050.1_Missense_Mutation_p.A96V	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	96					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)	p.A96V(1)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GACCCGGAAGCCCCTTTTCTA	0.438																																					p.A96V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287T	4						.						89.0	97.0	94.0					4																	74702964		2203	4300	6503	74921828	SO:0001583	missense	6372	exon3			U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.287C>T	4.37:g.74702964C>T	ENSP00000226317:p.Ala96Val		74921828	NM_002993	B2R4X3|Q4W5D4	Missense_Mutation	SNP	ENST00000226317.5	37	CCDS3560.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340637	0.41498	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.05717	3.4;3.4	3.87	3.03	0.35002	Chemokine interleukin-8-like domain (3);	0.261727	0.38217	N	0.001776	T	0.21227	0.0511	M	0.84948	2.725	0.25765	N	0.984908	D	0.67145	0.996	D	0.63381	0.914	T	0.03231	-1.1058	10	0.87932	D	0	.	7.4181	0.27057	0.0:0.8794:0.0:0.1206	.	96	P80162	CXCL6_HUMAN	V	96	ENSP00000226317:A96V;ENSP00000424819:A96V	ENSP00000226317:A96V	A	+	2	0	CXCL6	74921828	0.993000	0.37304	0.915000	0.36163	0.044000	0.14063	2.546000	0.45778	0.970000	0.38263	0.650000	0.86243	GCC		0.438	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993	
CDKL2	8999	broad.mit.edu	37	4	76532463	76532463	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:76532463C>T	ENST00000429927.2	-	4	1149	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	CDKL2_ENST00000307465.4_Missense_Mutation_p.R149Q	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.R149Q(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGCCAATGTTCGCGCAAATCC	0.443																																					p.R149Q												CDKL2,ovary,NS,Substitution - Missense,0 	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G446A	4						.						93.0	86.0	88.0					4																	76532463		2203	4300	6503	76751487	SO:0001583	missense	8999	exon4			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.446G>A	4.37:g.76532463C>T	ENSP00000412365:p.Arg149Gln		76751487	NM_003948	B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.179498	0.78564	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.66815	-0.23;-0.23	4.72	3.88	0.44766	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	0.78935	0.4362	M	0.71036	2.16	0.44337	D	0.997225	D;D	0.89917	0.996;1.0	P;D	0.74674	0.895;0.984	T	0.81093	-0.1089	9	0.72032	D	0.01	-10.6792	12.3211	0.54985	0.0:0.9157:0.0:0.0843	.	149;149	B4DH08;Q92772	.;CDKL2_HUMAN	Q	149	ENSP00000412365:R149Q;ENSP00000306340:R149Q	ENSP00000306340:R149Q	R	-	2	0	CDKL2	76751487	1.000000	0.71417	0.132000	0.22025	0.796000	0.44982	5.007000	0.63984	1.343000	0.45638	0.639000	0.83563	CGA		0.443	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948	
PPEF2	5470	broad.mit.edu	37	4	76787441	76787441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:76787441C>T	ENST00000286719.7	-	15	2177	c.1821G>A	c.(1819-1821)tgG>tgA	p.W607*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	607					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.W607*(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)			TCAGCATCCGCCATGGCAGTC	0.542																																					p.W607X	NSCLC(105;1359 1603 15961 44567 47947)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1821A	4						.						137.0	112.0	121.0					4																	76787441		2203	4300	6503	77006465	SO:0001587	stop_gained	5470	exon15			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.1821G>A	4.37:g.76787441C>T	ENSP00000286719:p.Trp607*		77006465	NM_006239	O14831	Nonsense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	39	7.527337	0.98339	.	.	ENSG00000156194	ENST00000286719	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3537	15.1297	0.72514	0.0:1.0:0.0:0.0	.	.	.	.	X	607	.	ENSP00000286719:W607X	W	-	3	0	PPEF2	77006465	1.000000	0.71417	0.997000	0.53966	0.361000	0.29550	7.088000	0.76901	2.421000	0.82119	0.491000	0.48974	TGG		0.542	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
CXCL9	4283	broad.mit.edu	37	4	76924788	76924788	+	Missense_Mutation	SNP	C	C	T	rs139830877		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:76924788C>T	ENST00000264888.5	-	4	379	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	114					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.R114Q(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGATTTTCGAACTTTCAG	0.338																																					p.R114Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G341A	4						.	C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	182.0	172.0	175.0		341	1.5	0.0	4	dbSNP_134	175	0,8596		0,0,4298	no	missense	CXCL9	NM_002416.1	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	114/126	76924788	1,12997	2201	4298	6499	77143812	SO:0001583	missense	4283	exon4			X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.341G>A	4.37:g.76924788C>T	ENSP00000354901:p.Arg114Gln		77143812	NM_002416	Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648113	0.29336	2.27E-4	0.0	ENSG00000138755	ENST00000264888	T	0.46063	0.88	5.35	1.46	0.22682	.	14.147600	0.00166	N	0.000000	T	0.22166	0.0534	N	0.03608	-0.345	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.15407	-1.0438	10	0.27082	T	0.32	0.4425	6.353	0.21387	0.0:0.3344:0.0:0.6656	.	114	Q07325	CXCL9_HUMAN	Q	114	ENSP00000354901:R114Q	ENSP00000354901:R114Q	R	-	2	0	CXCL9	77143812	0.021000	0.18746	0.014000	0.15608	0.006000	0.05464	0.148000	0.16224	0.209000	0.20645	-0.290000	0.09829	CGA		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1		
CCDC158	339965	broad.mit.edu	37	4	77274392	77274392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:77274392C>A	ENST00000388914.3	-	15	2481	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	777								p.E777*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTACTCAATTCCTGACTGAGT	0.378																																					p.E777X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2329T	4						.						104.0	96.0	98.0					4																	77274392		1835	4089	5924	77493416	SO:0001587	stop_gained	339965	exon15			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2329G>T	4.37:g.77274392C>A	ENSP00000373566:p.Glu777*		77493416	NM_001042784	Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	40	8.211913	0.98709	.	.	ENSG00000163749	ENST00000388914	.	.	.	4.95	4.95	0.65309	.	0.000000	0.46758	D	0.000276	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	15.2105	0.73219	0.0:1.0:0.0:0.0	.	.	.	.	X	777	.	ENSP00000373566:E777X	E	-	1	0	CCDC158	77493416	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.233000	0.51311	2.575000	0.86900	0.655000	0.94253	GAA		0.378	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
CCDC158	339965	broad.mit.edu	37	4	77288483	77288483	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:77288483T>G	ENST00000388914.3	-	11	1946	c.1794A>C	c.(1792-1794)gaA>gaC	p.E598D		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	598								p.E598D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TATCATTAATTTCTTTCTCCA	0.408																																					p.E598D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1794C	4						.						110.0	106.0	107.0					4																	77288483		1862	4096	5958	77507507	SO:0001583	missense	339965	exon11			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1794A>C	4.37:g.77288483T>G	ENSP00000373566:p.Glu598Asp		77507507	NM_001042784	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311169	0.40895	.	.	ENSG00000163749	ENST00000388914	T	0.33865	1.39	5.66	2.98	0.34508	.	0.075989	0.51477	D	0.000084	T	0.35885	0.0947	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.13150	-1.0520	10	0.12103	T	0.63	.	7.8171	0.29265	0.0:0.7322:0.0:0.2678	.	598	Q5M9N0	CD158_HUMAN	D	598	ENSP00000373566:E598D	ENSP00000373566:E598D	E	-	3	2	CCDC158	77507507	0.832000	0.29368	0.995000	0.50966	0.153000	0.21895	0.173000	0.16724	0.744000	0.32741	-0.464000	0.05259	GAA		0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
MRPL1	65008	broad.mit.edu	37	4	78804606	78804606	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:78804606G>A	ENST00000315567.8	+	3	683	c.354G>A	c.(352-354)aaG>aaA	p.K118K	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	118					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.K118K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CTAGTCCAAAGCAAAGTGTTT	0.353																																					p.K118K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G354A	4						.						90.0	90.0	90.0					4																	78804606		2203	4300	6503	79023630	SO:0001819	synonymous_variant	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.354G>A	4.37:g.78804606G>A			79023630	NM_020236	A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Silent	SNP	ENST00000315567.8	37	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	G	2.104	-0.405262	0.04832	.	.	ENSG00000169288	ENST00000502384	.	.	.	6.14	3.48	0.39840	.	.	.	.	.	T	0.52677	0.1749	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46816	-0.9164	4	.	.	.	-3.7482	5.0135	0.14324	0.2198:0.2993:0.4809:0.0	.	.	.	.	T	72	.	.	A	+	1	0	MRPL1	79023630	0.862000	0.29867	1.000000	0.80357	0.272000	0.26649	-0.262000	0.08682	0.928000	0.37168	-0.182000	0.12963	GCA		0.353	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236	
BMP2K	55589	broad.mit.edu	37	4	79793867	79793867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:79793867G>T	ENST00000335016.5	+	13	1874	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.E570*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	570					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.E570*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CTCCCCTCAAGAGTTCTCACC	0.468																																					p.E570X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1708T	4						.						156.0	148.0	151.0					4																	79793867		2203	4300	6503	80012891	SO:0001587	stop_gained	55589	exon13			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.1708G>T	4.37:g.79793867G>T	ENSP00000334836:p.Glu570*		80012891	NM_198892	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Nonsense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.761895|8.761895	0.98943|0.98943	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889|ENST00000502613	.|.	.|.	.|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.509129|.	0.20001|.	N|.	0.101328|.	.|T	.|0.75213	.|0.3819	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72343	.|-0.4322	.|3	0.18710|.	T|.	0.47|.	-23.8545|-23.8545	18.6367|18.6367	0.91380|0.91380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	570;570;584|262	.|.	ENSP00000264889:E584X|.	E|R	+|+	1|2	0|0	BMP2K|BMP2K	80012891|80012891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.826000|6.826000	0.75298|0.75298	2.847000|2.847000	0.97988|0.97988	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.468	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
GK2	2712	broad.mit.edu	37	4	80328851	80328851	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:80328851A>G	ENST00000358842.3	-	1	521	c.504T>C	c.(502-504)gtT>gtC	p.V168V		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.V168V(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						TACCTTCTTCAACAGCCTTTT	0.433																																					p.V168V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T504C	4						.						131.0	123.0	126.0					4																	80328851		2203	4300	6503	80547875	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.504T>C	4.37:g.80328851A>G			80547875	NM_033214	Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	CCDS3585.1																																																																																				0.433	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214	
PRDM8	56978	broad.mit.edu	37	4	81121318	81121318	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:81121318C>T	ENST00000504452.1	+	6	923	c.84C>T	c.(82-84)agC>agT	p.S28S	PRDM8_ENST00000339711.4_Silent_p.S28S|PRDM8_ENST00000415738.2_Silent_p.S28S			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	28	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.S28S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TTTTTACCAGCGTTTACACCA	0.478																																					p.S28S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C84T	4						.						121.0	124.0	123.0					4																	81121318		1995	4170	6165	81340342	SO:0001819	synonymous_variant	56978	exon2			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.84C>T	4.37:g.81121318C>T			81340342	NM_001099403	A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	CCDS43243.1																																																																																				0.478	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1		
BMP3	651	broad.mit.edu	37	4	81967329	81967329	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:81967329C>T	ENST00000282701.2	+	2	1074	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	252					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.P252S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CATTTCTGAGCCAGAAAGTGT	0.483																																					p.P252S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C754T	4						.						94.0	94.0	94.0					4																	81967329		2203	4300	6503	82186353	SO:0001583	missense	651	exon2			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.754C>T	4.37:g.81967329C>T	ENSP00000282701:p.Pro252Ser		82186353	NM_001201	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	c	10.92	1.486233	0.26686	.	.	ENSG00000152785	ENST00000282701	D	0.81659	-1.52	5.08	3.36	0.38483	.	0.097095	0.64402	D	0.000001	T	0.74733	0.3755	M	0.62088	1.915	0.58432	D	0.999997	P	0.43169	0.8	B	0.36922	0.236	T	0.77448	-0.2584	10	0.59425	D	0.04	.	10.6405	0.45590	0.1356:0.7917:0.0:0.0728	.	252	P12645	BMP3_HUMAN	S	252	ENSP00000282701:P252S	ENSP00000282701:P252S	P	+	1	0	BMP3	82186353	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	4.721000	0.61951	1.527000	0.49086	-0.121000	0.15023	CCA		0.483	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
FAM175A	84142	broad.mit.edu	37	4	84391526	84391526	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:84391526G>A	ENST00000321945.7	-	5	414	c.306C>T	c.(304-306)ttC>ttT	p.F102F	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Silent_p.F53F	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	102	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.F102F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AATGACGACGGAATTTGTACC	0.313																																					p.F102F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C306T	4						.						104.0	112.0	109.0					4																	84391526		2202	4300	6502	84610550	SO:0001819	synonymous_variant	84142	exon5			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.306C>T	4.37:g.84391526G>A			84610550	NM_139076	A5JJ07|Q9H8I1|Q9H9N4	Silent	SNP	ENST00000321945.7	37	CCDS3605.2																																																																																				0.313	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076	
AGPAT9	84803	broad.mit.edu	37	4	84509418	84509418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:84509418C>T	ENST00000395226.2	+	6	828	c.610C>T	c.(610-612)Cga>Tga	p.R204*	AGPAT9_ENST00000264409.4_Nonsense_Mutation_p.R204*	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	204					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.R204*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GATCTGTGTGCGAGCCCTCTC	0.448																																					p.R204X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C610T	4						.						177.0	161.0	166.0					4																	84509418		2203	4300	6503	84728442	SO:0001587	stop_gained	84803	exon5			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.610C>T	4.37:g.84509418C>T	ENSP00000378651:p.Arg204*		84728442	NM_032717	Q68CJ4|Q6GPI6|Q96NA3	Nonsense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	C	41	8.550968	0.98859	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	.	.	.	5.71	3.91	0.45181	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3342	14.698	0.69136	0.4006:0.5994:0.0:0.0	.	.	.	.	X	204	.	ENSP00000264409:R204X	R	+	1	2	AGPAT9	84728442	0.750000	0.28316	0.965000	0.40720	0.975000	0.68041	0.565000	0.23578	1.386000	0.46466	0.655000	0.94253	CGA		0.448	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717	
WDFY3	23001	broad.mit.edu	37	4	85612887	85612887	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:85612887G>A	ENST00000295888.4	-	60	9508	c.9101C>T	c.(9100-9102)gCg>gTg	p.A3034V	WDFY3_ENST00000322366.6_Missense_Mutation_p.A3017V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3034	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.A3034V(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)		CTGTTCCACCGCAAGAATACC	0.408																																					p.A3034V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9101T	4						.						97.0	91.0	93.0					4																	85612887		2203	4300	6503	85831911	SO:0001583	missense	23001	exon60			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.9101C>T	4.37:g.85612887G>A	ENSP00000295888:p.Ala3034Val		85831911	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912489	0.72983	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.29655	1.56;1.56;1.56	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.44159	-0.9346	10	0.44086	T	0.13	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	3034	Q8IZQ1	WDFY3_HUMAN	V	3017;3034;637	ENSP00000318466:A3017V;ENSP00000295888:A3034V;ENSP00000424987:A637V	ENSP00000295888:A3034V	A	-	2	0	WDFY3	85831911	1.000000	0.71417	0.973000	0.42090	0.177000	0.22998	9.813000	0.99286	2.746000	0.94184	0.655000	0.94253	GCG		0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85626633	85626633	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:85626633C>A	ENST00000295888.4	-	54	8656	c.8249G>T	c.(8248-8250)aGa>aTa	p.R2750I	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2733I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2750	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				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.R2750I(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)		AGCCAGGTTTCTAAACGTCTT	0.388																																					p.R2750I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8249T	4						.						188.0	166.0	174.0					4																	85626633		2203	4300	6503	85845657	SO:0001583	missense	23001	exon54			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.8249G>T	4.37:g.85626633C>A	ENSP00000295888:p.Arg2750Ile		85845657	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317261	0.95682	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	D;D;D	0.90955	-2.76;-2.76;-2.76	5.64	5.64	0.86602	BEACH domain (4);	0.089895	0.85682	D	0.000000	D	0.97832	0.9288	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98748	1.0719	10	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	2750	Q8IZQ1	WDFY3_HUMAN	I	2733;2750;353	ENSP00000318466:R2733I;ENSP00000295888:R2750I;ENSP00000424987:R353I	ENSP00000295888:R2750I	R	-	2	0	WDFY3	85845657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.564000	0.82326	2.937000	0.99478	0.650000	0.86243	AGA		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85664912	85664912	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:85664912A>C	ENST00000295888.4	-	37	6421	c.6014T>G	c.(6013-6015)tTt>tGt	p.F2005C	WDFY3_ENST00000322366.6_Missense_Mutation_p.F2005C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2005					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.F2005C(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)		GTAAGTTTGAAATTCTTTTTG	0.323																																					p.F2005C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6014G	4						.						98.0	97.0	98.0					4																	85664912		2203	4300	6503	85883936	SO:0001583	missense	23001	exon37			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.6014T>G	4.37:g.85664912A>C	ENSP00000295888:p.Phe2005Cys		85883936	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725170	0.68959	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.67865	-0.29;-0.28	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.80527	-0.1343	10	0.46703	T	0.11	.	15.6396	0.76984	1.0:0.0:0.0:0.0	.	2005	Q8IZQ1	WDFY3_HUMAN	C	2005	ENSP00000318466:F2005C;ENSP00000295888:F2005C	ENSP00000295888:F2005C	F	-	2	0	WDFY3	85883936	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.603000	0.90871	2.150000	0.67090	0.383000	0.25322	TTT		0.323	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
DSPP	1834	broad.mit.edu	37	4	88536591	88536591	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:88536591G>T	ENST00000282478.7	+	4	2810	c.2777G>T	c.(2776-2778)aGc>aTc	p.S926I	DSPP_ENST00000399271.1_Missense_Mutation_p.S926I|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	926	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S926I(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcagtgaaagcagtaatagt	0.478																																					p.S926I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2777T	4						.						93.0	110.0	104.0					4																	88536591		1667	2979	4646	88755615	SO:0001583	missense	1834	exon5			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2777G>T	4.37:g.88536591G>T	ENSP00000282478:p.Ser926Ile		88755615	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	0.104	-1.147797	0.01714	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87571	-2.27;-2.27	1.73	0.851	0.18989	.	.	.	.	.	T	0.81422	0.4819	L	0.34521	1.04	0.22639	N	0.998901	D	0.62365	0.991	P	0.50231	0.635	T	0.69569	-0.5110	9	0.30854	T	0.27	0.0704	4.2548	0.10712	0.2193:0.0:0.7807:0.0	.	926	Q9NZW4	DSPP_HUMAN	I	926	ENSP00000382213:S926I;ENSP00000282478:S926I	ENSP00000282478:S926I	S	+	2	0	DSPP	88755615	0.593000	0.26840	0.794000	0.32065	0.027000	0.11550	0.297000	0.19101	0.302000	0.22762	0.175000	0.17021	AGC		0.478	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
DSPP	1834	broad.mit.edu	37	4	88537331	88537331	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:88537331G>A	ENST00000282478.7	+	4	3550	c.3517G>A	c.(3517-3519)Gat>Aat	p.D1173N	DSPP_ENST00000399271.1_Missense_Mutation_p.D1173N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1173	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D1173N(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		cgacagcagcgatagcagtga	0.562																																					p.D1173N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3517A	4						.						46.0	65.0	58.0					4																	88537331		1610	2860	4470	88756355	SO:0001583	missense	1834	exon5			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3517G>A	4.37:g.88537331G>A	ENSP00000282478:p.Asp1173Asn		88756355	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	2.983	-0.209969	0.06140	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.89123	-2.47;-2.47	2.23	1.36	0.22044	.	0.241793	0.21158	U	0.079213	T	0.68063	0.2960	N	0.04959	-0.14	0.20196	N	0.99993	P	0.36065	0.535	B	0.33042	0.157	T	0.63256	-0.6678	10	0.08179	T	0.78	-2.52	4.9646	0.14083	0.1861:0.0:0.8139:0.0	.	1173	Q9NZW4	DSPP_HUMAN	N	1173	ENSP00000382213:D1173N;ENSP00000282478:D1173N	ENSP00000282478:D1173N	D	+	1	0	DSPP	88756355	0.004000	0.15560	0.632000	0.29296	0.005000	0.04900	0.207000	0.17395	0.501000	0.28013	0.298000	0.19748	GAT		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
ABCG2	9429	broad.mit.edu	37	4	89013497	89013497	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:89013497G>A	ENST00000237612.3	-	16	2402	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	619	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.I619I(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GTGAGAGATCGATGCCCTGCT	0.378																																					p.I619I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1857T	4						.						113.0	107.0	109.0					4																	89013497		2203	4300	6503	89232521	SO:0001819	synonymous_variant	9429	exon16			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1857C>T	4.37:g.89013497G>A			89232521	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	CCDS3628.1																																																																																				0.378	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
HERC6	55008	broad.mit.edu	37	4	89356891	89356891	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:89356891G>A	ENST00000264346.7	+	18	2324	c.2265G>A	c.(2263-2265)aaG>aaA	p.K755K	HERC6_ENST00000380265.5_Silent_p.K719K	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	755	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.K755K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AACCTGAGAAGAAAAGATATT	0.313																																					p.R755K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2264A	4						.						46.0	41.0	43.0					4																	89356891		1808	4085	5893	89575914	SO:0001819	synonymous_variant	55008	exon18			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.2265G>A	4.37:g.89356891G>A			89575914	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	CCDS47098.1																																																																																				0.313	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
HERC6	55008	broad.mit.edu	37	4	89363508	89363508	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:89363508C>A	ENST00000264346.7	+	23	3024	c.2965C>A	c.(2965-2967)Ctc>Atc	p.L989I	HERC6_ENST00000380265.5_Missense_Mutation_p.L953I	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	989	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.L989I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TCATAATATTCTCTCCCTCCC	0.413																																					p.F988L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2964A	4						.						82.0	81.0	82.0					4																	89363508		1981	4177	6158	89582531	SO:0001583	missense	55008	exon23			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.2965C>A	4.37:g.89363508C>A	ENSP00000264346:p.Leu989Ile		89582531	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322506	0.23994	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.69040	-0.37;-0.37	4.69	2.95	0.34219	HECT (4);	0.000000	0.41605	D	0.000857	T	0.78233	0.4251	M	0.82823	2.61	0.28773	N	0.900265	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70389	-0.4885	10	0.72032	D	0.01	.	4.0777	0.09912	0.0:0.5571:0.18:0.263	.	953;989	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	I	953;989	ENSP00000369617:L953I;ENSP00000264346:L989I	ENSP00000264346:L989I	L	+	1	0	HERC6	89582531	0.915000	0.31059	0.012000	0.15200	0.116000	0.19942	0.682000	0.25335	0.696000	0.31696	0.591000	0.81541	CTC		0.413	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
FAM13A	10144	broad.mit.edu	37	4	89660264	89660264	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:89660264C>T	ENST00000264344.5	-	20	2686	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	FAM13A_ENST00000513837.1_Missense_Mutation_p.E473K|FAM13A_ENST00000395002.2_Missense_Mutation_p.E501K|FAM13A_ENST00000511976.1_Missense_Mutation_p.E413K|FAM13A_ENST00000503556.1_Missense_Mutation_p.E487K|FAM13A_ENST00000508369.1_Missense_Mutation_p.E501K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	827					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.E827K(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						ACCTGCCGTTCGTTCTTTGTT	0.483																																					p.E827K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2479A	4						.						163.0	129.0	140.0					4																	89660264		2203	4300	6503	89879287	SO:0001583	missense	10144	exon20			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.2479G>A	4.37:g.89660264C>T	ENSP00000264344:p.Glu827Lys		89879287	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418712	0.96092	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.62232	0.04;1.19;0.54;0.75;0.54;0.55	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.80183	2.485	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	0.85130	0.981;0.994;0.994;0.997;0.974;0.981	D	0.83396	0.0020	10	0.87932	D	0	.	18.863	0.92280	0.0:1.0:0.0:0.0	.	473;413;827;501;487;501	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	K	501;827;487;413;501;473	ENSP00000378450:E501K;ENSP00000264344:E827K;ENSP00000427189:E487K;ENSP00000421914:E413K;ENSP00000421562:E501K;ENSP00000423252:E473K	ENSP00000264344:E827K	E	-	1	0	FAM13A	89879287	1.000000	0.71417	0.843000	0.33291	0.953000	0.61014	7.320000	0.79064	2.694000	0.91930	0.650000	0.86243	GAA		0.483	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
FAM13A	10144	broad.mit.edu	37	4	89702486	89702486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:89702486C>A	ENST00000264344.5	-	11	1495	c.1288G>T	c.(1288-1290)Gaa>Taa	p.E430*	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.E76*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.E104*|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.E90*|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.E104*	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	430					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.E430*(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						GGAGTATTTTCTTTGTTGATA	0.323																																					p.E430X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1288T	4						.						67.0	70.0	69.0					4																	89702486		2203	4299	6502	89921509	SO:0001587	stop_gained	10144	exon11			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.1288G>T	4.37:g.89702486C>A	ENSP00000264344:p.Glu430*		89921509	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	38	6.755315	0.97813	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	.	.	.	5.08	5.08	0.68730	.	0.116387	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	18.6654	0.91488	0.0:1.0:0.0:0.0	.	.	.	.	X	104;430;90;104;76	.	ENSP00000264344:E430X	E	-	1	0	FAM13A	89921509	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.187000	0.65087	2.623000	0.88846	0.650000	0.86243	GAA		0.323	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
MMRN1	22915	broad.mit.edu	37	4	90816465	90816465	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:90816465C>A	ENST00000394980.1	+	2	662	c.343C>A	c.(343-345)Ctt>Att	p.L115I	MMRN1_ENST00000394981.1_Missense_Mutation_p.L81I|MMRN1_ENST00000264790.2_Missense_Mutation_p.L115I			Q13201	MMRN1_HUMAN	multimerin 1	115					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.L115I(1)		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)		GTTACAGAATCTTACCCTCCC	0.458																																					p.L115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C343A	4						.						120.0	115.0	117.0					4																	90816465		2203	4300	6503	91035488	SO:0001583	missense	22915	exon1			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.343C>A	4.37:g.90816465C>A	ENSP00000378431:p.Leu115Ile		91035488	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987629	0.35036	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.71341	-0.24;-0.24;-0.56	4.94	4.09	0.47781	.	0.588397	0.15184	N	0.275957	T	0.63331	0.2502	L	0.50333	1.59	0.09310	N	1	P;P	0.46912	0.728;0.886	B;B	0.42738	0.264;0.396	T	0.56469	-0.7974	10	0.35671	T	0.21	.	8.2787	0.31887	0.0:0.8963:0.0:0.1037	.	81;115	Q13201-2;Q13201	.;MMRN1_HUMAN	I	115;115;81	ENSP00000378431:L115I;ENSP00000264790:L115I;ENSP00000378432:L81I	ENSP00000264790:L115I	L	+	1	0	MMRN1	91035488	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	0.193000	0.17116	2.686000	0.91538	0.655000	0.94253	CTT		0.458	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
GRID2	2895	broad.mit.edu	37	4	94693356	94693356	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:94693356C>T	ENST00000282020.4	+	16	2989	c.2731C>T	c.(2731-2733)Cca>Tca	p.P911S	GRID2_ENST00000510992.1_Missense_Mutation_p.P816S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	911					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.P911S(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)		TGACACTTTGCCAACACGACA	0.463																																					p.P911S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2731T	4						.						174.0	165.0	168.0					4																	94693356		2203	4300	6503	94912379	SO:0001583	missense	2895	exon16			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.2731C>T	4.37:g.94693356C>T	ENSP00000282020:p.Pro911Ser		94912379	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752075	0.69533	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.13307	2.65;2.6	5.42	5.42	0.78866	.	0.053328	0.85682	D	0.000000	T	0.23766	0.0575	N	0.14661	0.345	0.58432	D	0.999998	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.13335	-1.0513	10	0.72032	D	0.01	.	19.2246	0.93814	0.0:1.0:0.0:0.0	.	816;911	E9PH24;O43424	.;GRID2_HUMAN	S	911;816	ENSP00000282020:P911S;ENSP00000421257:P816S	ENSP00000282020:P911S	P	+	1	0	GRID2	94912379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.531000	0.85337	0.650000	0.86243	CCA		0.463	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
SMARCAD1	56916	broad.mit.edu	37	4	95129606	95129606	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:95129606C>G	ENST00000354268.4	+	2	134	c.61C>G	c.(61-63)Ccc>Gcc	p.P21A	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P21A|RP11-363G15.2_ENST00000501965.2_lincRNA			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	21					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.P21A(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)		TGAGGAAGCGCCCGAAGCAAC	0.488																																					p.P21A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C61G	4						.						91.0	98.0	96.0					4																	95129606		2203	4300	6503	95348629	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.61C>G	4.37:g.95129606C>G	ENSP00000346217:p.Pro21Ala		95348629	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840626	0.32513	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.56275	0.47;0.47;0.47	4.83	4.83	0.62350	.	0.000000	0.32769	N	0.005674	T	0.54743	0.1877	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.73708	0.956;0.981	T	0.60100	-0.7329	10	0.59425	D	0.04	-7.9686	13.2966	0.60301	0.0:1.0:0.0:0.0	.	21;21	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	A	21	ENSP00000351947:P21A;ENSP00000415576:P21A;ENSP00000346217:P21A	ENSP00000346217:P21A	P	+	1	0	SMARCAD1	95348629	0.940000	0.31905	0.839000	0.33178	0.471000	0.32888	2.167000	0.42415	2.491000	0.84063	0.561000	0.74099	CCC		0.488	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
BMPR1B	658	broad.mit.edu	37	4	96035959	96035959	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:96035959G>A	ENST00000515059.1	+	5	515	c.232G>A	c.(232-234)Gat>Aat	p.D78N	BMPR1B_ENST00000440890.2_Missense_Mutation_p.D108N|BMPR1B_ENST00000394931.1_Missense_Mutation_p.D78N|BMPR1B_ENST00000264568.4_Missense_Mutation_p.D78N|BMPR1B_ENST00000502683.1_Missense_Mutation_p.D78N	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	78					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.D78N(1)		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)		AGAAGGCTCAGATTTTCAGTG	0.413																																					p.D78N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	4						.						249.0	243.0	245.0					4																	96035959		2203	4300	6503	96254982	SO:0001583	missense	658	exon5			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.232G>A	4.37:g.96035959G>A	ENSP00000426617:p.Asp78Asn		96254982	NM_001203	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017819	0.54576	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	5.82	5.82	0.92795	TGF-beta receptor/activin receptor, type I/II (1);	0.095726	0.64402	D	0.000001	D	0.96116	0.8734	L	0.46157	1.445	0.53005	D	0.999968	B	0.31256	0.316	B	0.39971	0.315	D	0.93750	0.7058	10	0.17832	T	0.49	.	20.5436	0.99274	0.0:0.0:1.0:0.0	.	78	O00238	BMR1B_HUMAN	N	78;78;78;78;108;78;78;78	ENSP00000426617:D78N;ENSP00000421144:D78N;ENSP00000425444:D78N;ENSP00000421671:D78N;ENSP00000401907:D108N;ENSP00000424693:D78N;ENSP00000264568:D78N;ENSP00000378389:D78N	ENSP00000264568:D78N	D	+	1	0	BMPR1B	96254982	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.084000	0.89516	2.932000	0.99384	0.644000	0.83932	GAT		0.413	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
BMPR1B	658	broad.mit.edu	37	4	96052581	96052581	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:96052581G>A	ENST00000515059.1	+	10	1277	c.994G>A	c.(994-996)Gat>Aat	p.D332N	BMPR1B_ENST00000440890.2_Missense_Mutation_p.D362N|BMPR1B_ENST00000394931.1_Missense_Mutation_p.D332N|BMPR1B_ENST00000264568.4_Missense_Mutation_p.D332N	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	332	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.D332N(1)		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)		TGCCCATCGAGATCTGAAAAG	0.383																																					p.D332N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G994A	4						.						90.0	86.0	88.0					4																	96052581		2203	4300	6503	96271604	SO:0001583	missense	658	exon10			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.994G>A	4.37:g.96052581G>A	ENSP00000426617:p.Asp332Asn		96271604	NM_001203	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504353	0.96371	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	6.06	6.06	0.98353	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	0.96981	0.9014	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96830	0.9610	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	332	O00238	BMR1B_HUMAN	N	332;332;332;362;332;332	ENSP00000426617:D332N;ENSP00000425444:D332N;ENSP00000421671:D332N;ENSP00000401907:D362N;ENSP00000264568:D332N;ENSP00000378389:D332N	ENSP00000264568:D332N	D	+	1	0	BMPR1B	96271604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.810000	0.99221	2.882000	0.98803	0.655000	0.94253	GAT		0.383	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
STPG2	285555	broad.mit.edu	37	4	98902319	98902319	+	Missense_Mutation	SNP	C	C	T	rs267600307		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:98902319C>T	ENST00000295268.3	-	6	852	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	255								p.E255K(1)									CCTGGCATTTCCTCTGTCCTG	0.368																																					p.E255K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G763A	4						.						178.0	176.0	177.0					4																	98902319		2203	4300	6503	99121342	SO:0001583	missense	285555	exon6			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.763G>A	4.37:g.98902319C>T	ENSP00000295268:p.Glu255Lys		99121342	NM_174952		Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	0.938	-0.710510	0.03230	.	.	ENSG00000163116	ENST00000295268	T	0.11385	2.78	5.45	3.67	0.42095	.	0.561214	0.18762	N	0.131874	T	0.06142	0.0159	N	0.20685	0.6	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.43956	-0.9359	10	0.12103	T	0.63	-26.4797	7.2354	0.26067	0.0:0.641:0.0:0.359	.	255	Q8N412	CD037_HUMAN	K	255	ENSP00000295268:E255K	ENSP00000295268:E255K	E	-	1	0	C4orf37	99121342	0.554000	0.26522	0.151000	0.22473	0.855000	0.48748	0.786000	0.26844	0.601000	0.29879	0.563000	0.77884	GAA		0.368	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952	
RAP1GDS1	5910	broad.mit.edu	37	4	99341226	99341226	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:99341226C>A	ENST00000408927.3	+	11	1344	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L412I|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L362I|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L363I|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L412I|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L320I	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	411					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.L412I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTTGAAATTTCTTAAATCTGA	0.348			T	NUP98	T-ALL																																p.L363I			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1087A	4						.						90.0	89.0	89.0					4																	99341226		1810	4073	5883	99560249	SO:0001583	missense	5910	exon10				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1231C>A	4.37:g.99341226C>A	ENSP00000386153:p.Leu411Ile		99560249	NM_001100428	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.717854|4.717854	0.89205|0.89205	.|.	.|.	ENSG00000138698|ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360|ENST00000509501	T;T;T;T;T;T|.	0.62639|.	0.01;0.78;0.01;0.01;0.01;0.01|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74084|0.74084	0.3670|0.3670	L|L	0.58810|0.58810	1.83|1.83	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D|.	0.89917|.	0.998;0.99;0.982;0.979;0.992;1.0|.	D;D;D;P;P;D|.	0.83275|.	0.996;0.979;0.952;0.65;0.8;0.991|.	T|T	0.68780|0.68780	-0.5318|-0.5318	10|5	0.66056|.	D|.	0.02|.	-7.2934|-7.2934	20.6282|20.6282	0.99521|0.99521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320;362;363;411;412;412|.	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9|.	.;.;.;GDS1_HUMAN;.;.|.	I|Y	363;320;411;412;362;412|220	ENSP00000369503:L363I;ENSP00000264572:L320I;ENSP00000386153:L411I;ENSP00000407157:L412I;ENSP00000386223:L362I;ENSP00000340454:L412I|.	ENSP00000264572:L320I|.	L|S	+|+	1|2	0|0	RAP1GDS1|RAP1GDS1	99560249|99560249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.048000|3.048000	0.49862|0.49862	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.348	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	
F11	2160	broad.mit.edu	37	4	187201424	187201424	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr4:187201424G>A	ENST00000403665.2	+	9	1265	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	F11_ENST00000264692.4_Missense_Mutation_p.E253K	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	305	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.E305K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTTGGGAGAAGAACTGGATAT	0.493																																					p.E305K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G913A	4						.						165.0	165.0	165.0					4																	187201424		2203	4300	6503	187438418	SO:0001583	missense	2160	exon9			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.913G>A	4.37:g.187201424G>A	ENSP00000384957:p.Glu305Lys		187438418	NM_000128	D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377843	0.82682	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.82344	-1.6;-1.6	5.55	5.55	0.83447	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.136281	0.49916	D	0.000127	D	0.83188	0.5200	L	0.60845	1.875	0.49483	D	0.99979	P	0.36647	0.563	B	0.38921	0.285	T	0.82462	-0.0445	10	0.45353	T	0.12	.	19.9413	0.97163	0.0:0.0:1.0:0.0	.	305	P03951	FA11_HUMAN	K	305;253	ENSP00000384957:E305K;ENSP00000264692:E253K	ENSP00000264692:E253K	E	+	1	0	F11	187438418	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	6.354000	0.73036	2.779000	0.95612	0.650000	0.86243	GAA		0.493	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4		
ST8SIA4	7903	broad.mit.edu	37	5	100147754	100147754	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:100147754C>A	ENST00000231461.5	-	5	1187	c.877G>T	c.(877-879)Gat>Tat	p.D293Y		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	293					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.D293Y(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)		TGAATTTCATCACAGAATCTT	0.363																																					p.D293Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G877T	5						.						62.0	62.0	62.0					5																	100147754		2203	4299	6502	100175653	SO:0001583	missense	7903	exon5			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.877G>T	5.37:g.100147754C>A	ENSP00000231461:p.Asp293Tyr		100175653	NM_005668	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858923	0.71834	.	.	ENSG00000113532	ENST00000231461	T	0.38077	1.16	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77765	-0.2465	10	0.87932	D	0	-10.8189	18.9714	0.92716	0.0:1.0:0.0:0.0	.	293	Q92187	SIA8D_HUMAN	Y	293	ENSP00000231461:D293Y	ENSP00000231461:D293Y	D	-	1	0	ST8SIA4	100175653	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.969000	0.70422	2.722000	0.93159	0.655000	0.94253	GAT		0.363	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
SLCO4C1	353189	broad.mit.edu	37	5	101592851	101592851	+	Silent	SNP	C	C	T	rs533557395		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:101592851C>T	ENST00000310954.6	-	8	1723	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.E479E(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)		CAGCAAATGGCTCATTTTCAC	0.333																																					p.E479E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1437A	5						.						93.0	89.0	90.0					5																	101592851		2203	4300	6503	101620750	SO:0001819	synonymous_variant	353189	exon8			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.1437G>A	5.37:g.101592851C>T			101620750	NM_180991		Silent	SNP	ENST00000310954.6	37	CCDS34205.1																																																																																				0.333	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
SLCO6A1	133482	broad.mit.edu	37	5	101795417	101795417	+	Missense_Mutation	SNP	C	C	T	rs185327147	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:101795417C>T	ENST00000506729.1	-	5	1135	c.964G>A	c.(964-966)Gct>Act	p.A322T	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A322T|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A260T|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A322T(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)		GCAACGACAGCGGCAAAAAGA	0.328													C|||	6	0.00119808	0.0	0.0	5008	,	,		18463	0.006		0.0	False		,,,				2504	0.0				p.A322T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964A	5						.						107.0	102.0	104.0					5																	101795417		2203	4300	6503	101823316	SO:0001583	missense	133482	exon5			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.964G>A	5.37:g.101795417C>T	ENSP00000421339:p.Ala322Thr		101823316	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	5.357	0.251118	0.10130	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.45276	0.9;0.9;0.9	4.44	-8.88	0.00789	Major facilitator superfamily domain, general substrate transporter (1);	1.619310	0.03479	N	0.214767	T	0.25306	0.0615	L	0.33245	0.995	0.09310	N	1	P;D	0.58620	0.917;0.983	B;P	0.47430	0.202;0.547	T	0.51442	-0.8705	10	0.25751	T	0.34	.	8.878	0.35356	0.131:0.5602:0.0:0.3088	.	260;322	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	T	322;322;260	ENSP00000421339:A322T;ENSP00000369135:A322T;ENSP00000373671:A260T	ENSP00000369135:A322T	A	-	1	0	SLCO6A1	101823316	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.416000	0.00478	-3.671000	0.00123	-1.845000	0.00574	GCT		0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PAM	5066	broad.mit.edu	37	5	102360976	102360976	+	Missense_Mutation	SNP	C	C	T	rs75521858		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:102360976C>T	ENST00000438793.3	+	23	3097	c.2627C>T	c.(2626-2628)cCg>cTg	p.P876L	PAM_ENST00000348126.2_Missense_Mutation_p.P769L|PAM_ENST00000304400.7_Missense_Mutation_p.P876L|PAM_ENST00000274392.9_Missense_Mutation_p.P778L|PAM_ENST00000346918.2_Intron|PAM_ENST00000455264.2_Intron|PAM_ENST00000379787.4_Missense_Mutation_p.P256L	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	876					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.P876L(1)		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)	CTGGTTATTCCGGTGGTTGTC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		13100	0.001		0.0	False		,,,				2504	0.0				p.P876L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2627T	5						.						108.0	120.0	116.0					5																	102360976		2203	4300	6503	102388875	SO:0001583	missense	5066	exon23			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.2627C>T	5.37:g.102360976C>T	ENSP00000396493:p.Pro876Leu		102388875	NM_001177306	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	CCDS54885.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	14.18|14.18	2.458413|2.458413	0.43634|0.43634	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392|ENST00000504691	T;T;T;T;T|.	0.65732|.	0.76;0.63;0.19;0.75;-0.17|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.048514|.	0.85682|.	D|.	0.000000|.	T|T	0.60637|0.60637	0.2284|0.2284	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|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;1.0;1.0|.	T|T	0.53279|0.53279	-0.8461|-0.8461	10|5	0.66056|.	D|.	0.02|.	.|.	19.8805|19.8805	0.96895|0.96895	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	778;256;876;876;769|.	F8WE90;A6NMH0;P19021;P19021-5;P19021-2|.	.;.;AMD_HUMAN;.;.|.	L|W	876;769;256;876;778|171	ENSP00000396493:P876L;ENSP00000314638:P769L;ENSP00000369113:P256L;ENSP00000306100:P876L;ENSP00000274392:P778L|.	ENSP00000274392:P778L|.	P|R	+|+	2|1	0|2	PAM|PAM	102388875|102388875	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	4.550000|4.550000	0.60733|0.60733	2.705000|2.705000	0.92388|0.92388	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.478	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	
ROPN1L	83853	broad.mit.edu	37	5	10461439	10461439	+	Silent	SNP	G	G	A	rs148145590		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:10461439G>A	ENST00000503804.1	+	5	1082	c.561G>A	c.(559-561)acG>acA	p.T187T	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.T187T			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	187					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.T187T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CCTTGGAGACGGAATCCTACC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21137	0.0		0.0	False		,,,				2504	0.0				p.T187T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G561A	5						.	G	,	5,4401	9.9+/-24.2	0,5,2198	125.0	123.0	124.0		561,561	-8.4	0.0	5	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ROPN1L	NM_001201466.1,NM_031916.4	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	187/231,187/231	10461439	5,13001	2203	4300	6503	10514439	SO:0001819	synonymous_variant	83853	exon4			AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.561G>A	5.37:g.10461439G>A			10514439	NM_031916	D3DTC9|Q9BZX0	Silent	SNP	ENST00000503804.1	37	CCDS3879.1																																																																																				0.507	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916	
NUDT12	83594	broad.mit.edu	37	5	102886665	102886665	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:102886665T>C	ENST00000230792.2	-	7	1382	c.1286A>G	c.(1285-1287)gAt>gGt	p.D429G	NUDT12_ENST00000507423.1_Missense_Mutation_p.D411G	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	429	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)	p.D429G(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GGTCAGAACATCCAGGACCTA	0.358																																					p.D429G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1286G	5						.						92.0	92.0	92.0					5																	102886665		2203	4300	6503	102914564	SO:0001583	missense	83594	exon7			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1286A>G	5.37:g.102886665T>C	ENSP00000230792:p.Asp429Gly		102914564	NM_031438	B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.510568	0.85389	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.46819	0.86;0.86	5.68	5.68	0.88126	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.043569	0.85682	D	0.000000	T	0.61286	0.2335	L	0.53561	1.675	0.80722	D	1	D;P	0.63880	0.993;0.542	D;B	0.63113	0.911;0.348	T	0.57665	-0.7772	10	0.30854	T	0.27	-35.5264	15.9325	0.79675	0.0:0.0:0.0:1.0	.	411;429	E7EM93;Q9BQG2	.;NUD12_HUMAN	G	429;411	ENSP00000230792:D429G;ENSP00000424521:D411G	ENSP00000230792:D429G	D	-	2	0	NUDT12	102914564	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.514000	0.81750	2.169000	0.68431	0.528000	0.53228	GAT		0.358	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438	
FBXL17	64839	broad.mit.edu	37	5	107197555	107197555	+	Missense_Mutation	SNP	C	C	T	rs201479758		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:107197555C>T	ENST00000542267.1	-	9	2378	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	FBXL17_ENST00000359660.5_Missense_Mutation_p.E260K	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	658								p.E260K(1)		endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		ACCGTCACTTCGTTGACCTGC	0.577																																					p.E658K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1972A	5						.	C	LYS/GLU	0,4404		0,0,2202	107.0	82.0	91.0		1972	5.6	1.0	5		91	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBXL17	NM_001163315.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	658/702	107197555	1,13003	2202	4300	6502	107225454	SO:0001583	missense	64839	exon9			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1972G>A	5.37:g.107197555C>T	ENSP00000437464:p.Glu658Lys		107225454	NM_001163315	A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183057	0.78677	0.0	1.16E-4	ENSG00000145743	ENST00000359660;ENST00000542267	T;T	0.02579	4.24;4.24	5.59	5.59	0.84812	.	7.488640	0.00465	N	0.000110	T	0.05914	0.0154	L	0.31578	0.945	0.50632	D	0.999881	D	0.62365	0.991	B	0.42030	0.373	T	0.54906	-0.8223	10	0.52906	T	0.07	.	19.6014	0.95563	0.0:1.0:0.0:0.0	.	658	Q9UF56	FXL17_HUMAN	K	260;658	ENSP00000352683:E260K;ENSP00000437464:E658K	ENSP00000352683:E260K	E	-	1	0	FBXL17	107225454	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	7.191000	0.77763	2.639000	0.89480	0.585000	0.79938	GAA		0.577	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FER	2241	broad.mit.edu	37	5	108171463	108171463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:108171463G>T	ENST00000281092.4	+	5	820	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	FER_ENST00000438717.2_Intron|FER_ENST00000536402.1_Nonsense_Mutation_p.E146*|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	146	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)	p.E146*(1)		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)		ATTAATAAAAGAAATGAATTC	0.254																																					p.E146X	Colon(146;1051 1799 9836 27344 47401)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G436T	5						.						40.0	46.0	44.0					5																	108171463		2173	4256	6429	108199362	SO:0001587	stop_gained	2241	exon5			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.436G>T	5.37:g.108171463G>T	ENSP00000281092:p.Glu146*		108199362	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	41	8.617432	0.98886	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	.	.	.	5.77	5.77	0.91146	.	0.043514	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.1912	19.9653	0.97262	0.0:0.0:1.0:0.0	.	.	.	.	X	146	.	ENSP00000281092:E146X	E	+	1	0	FER	108199362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.672000	0.91181	2.716000	0.92895	0.585000	0.79938	GAA		0.254	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
WDR36	134430	broad.mit.edu	37	5	110439606	110439606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:110439606C>A	ENST00000513710.2	+	7	891	c.887C>A	c.(886-888)tCa>tAa	p.S296*	WDR36_ENST00000506538.2_Nonsense_Mutation_p.S296*|WDR36_ENST00000505303.1_Nonsense_Mutation_p.S240*			Q8NI36	WDR36_HUMAN	WD repeat domain 36	296					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.S296*(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		ACTTCAATTTCATTTCGCACA	0.303																																					p.S296X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C887A	5						.						55.0	59.0	58.0					5																	110439606		2198	4295	6493	110467505	SO:0001587	stop_gained	134430	exon7			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.887C>A	5.37:g.110439606C>A	ENSP00000424628:p.Ser296*		110467505	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Nonsense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757796	0.89843	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	.	.	.	5.38	5.38	0.77491	.	0.167111	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.368	19.1046	0.93290	0.0:1.0:0.0:0.0	.	.	.	.	X	296;296;240	.	ENSP00000422158:S240X	S	+	2	0	WDR36	110467505	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.559000	0.82265	2.677000	0.91161	0.491000	0.48974	TCA		0.303	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
APC	324	broad.mit.edu	37	5	112173283	112173283	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:112173283T>G	ENST00000457016.1	+	16	2372	c.1992T>G	c.(1990-1992)acT>acG	p.T664T	APC_ENST00000508376.2_Silent_p.T664T|APC_ENST00000257430.4_Silent_p.T664T|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	664	Leu-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.T664T(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)		GTCTACAAACTTTATTACAAC	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.T646T	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	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|skin(1)	c.T1938G	5						.						63.0	65.0	64.0					5																	112173283		2202	4300	6502	112201182	SO:0001819	synonymous_variant	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.1992T>G	5.37:g.112173283T>G			112201182	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*|APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1114	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.R1114*(30)|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)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_LARGE_INTESTINE)	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.R1096X	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 	.	31	Substitution - Nonsense(30)|Unknown(1)	large_intestine(29)|ovary(1)|skin(1)	c.C3286T	5	GRCh37	CM920048	APC	M	rs121913331	.						90.0	82.0	85.0					5																	112174631		2202	4300	6502	112202530	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.3340C>T	5.37:g.112174631C>T	ENSP00000413133:p.Arg1114*		112202530	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.950292	0.97956	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	4.88	0.63580	.	0.190581	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7869	14.0911	0.64990	0.3279:0.6721:0.0:0.0	.	.	.	.	X	1114;1096;1114;1114;1114	.	ENSP00000257430:R1114X	R	+	1	2	APC	112202530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.208000	0.42797	1.423000	0.47198	0.655000	0.94253	CGA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112179642	112179642	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:112179642T>G	ENST00000457016.1	+	16	8731	c.8351T>G	c.(8350-8352)tTt>tGt	p.F2784C	APC_ENST00000508376.2_Missense_Mutation_p.F2784C|APC_ENST00000257430.4_Missense_Mutation_p.F2784C|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2784	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.F2784C(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)		GTGACTCCTTTTAATTACAAC	0.463		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.F2766C	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.T8297G	5						.						81.0	84.0	83.0					5																	112179642		2202	4300	6502	112207541	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.8351T>G	5.37:g.112179642T>G	ENSP00000413133:p.Phe2784Cys		112207541	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189887	0.57909	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.82711	-1.64;-1.64;-1.64	5.92	5.92	0.95590	EB-1 binding (1);	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85484	0.1181	9	.	.	.	-21.7941	16.3662	0.83325	0.0:0.0:0.0:1.0	.	2786;2784	Q4LE70;P25054	.;APC_HUMAN	C	2784	ENSP00000413133:F2784C;ENSP00000257430:F2784C;ENSP00000427089:F2784C	.	F	+	2	0	APC	112207541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.180000	0.77674	2.274000	0.75844	0.533000	0.62120	TTT		0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
REEP5	7905	broad.mit.edu	37	5	112256884	112256884	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:112256884C>T	ENST00000379638.4	-	2	536	c.188G>A	c.(187-189)gGa>gAa	p.G63E	REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000504247.1_Missense_Mutation_p.G63E|REEP5_ENST00000513339.1_Missense_Mutation_p.G63E|REEP5_ENST00000545426.1_Missense_Mutation_p.G63E	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	63						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G63E(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GTAGCCAAATCCTATCAGGTT	0.587																																					p.G63E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	5						.						119.0	100.0	106.0					5																	112256884		2202	4300	6502	112284783	SO:0001583	missense	7905	exon2			BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.188G>A	5.37:g.112256884C>T	ENSP00000368959:p.Gly63Glu		112284783	NM_005669	B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Missense_Mutation	SNP	ENST00000379638.4	37	CCDS4109.2	.	.	.	.	.	.	.	.	.	.	C	32	5.138318	0.94560	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000261482;ENST00000504247	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.93328	3.405	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	0.85930	0.1451	10	0.87932	D	0	-41.3085	16.42	0.83755	0.0:1.0:0.0:0.0	.	63;36;63	B7Z510;B7Z2A3;Q00765	.;.;REEP5_HUMAN	E	63;63;63;54;63	ENSP00000368959:G63E;ENSP00000425901:G63E;ENSP00000442940:G63E;ENSP00000261482:G54E;ENSP00000421881:G63E	ENSP00000261482:G54E	G	-	2	0	REEP5	112284783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.681000	0.74523	2.169000	0.68431	0.655000	0.94253	GGA		0.587	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2	NM_005669	
TSSK1B	83942	broad.mit.edu	37	5	112769771	112769771	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:112769771C>T	ENST00000390666.3	-	1	957	c.766G>A	c.(766-768)Gac>Aac	p.D256N	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.D256N(2)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CGGTTGACGTCGGGCTGCAGC	0.612																																					p.D256N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G766A	5						.						59.0	54.0	56.0					5																	112769771		2202	4300	6502	112797670	SO:0001583	missense	83942	exon1			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.766G>A	5.37:g.112769771C>T	ENSP00000375081:p.Asp256Asn		112797670	NM_032028	B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	C	9.809	1.182675	0.21870	.	.	ENSG00000212122	ENST00000390666	T	0.27890	1.64	0.9	0.9	0.19278	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	0.35903	U	0.002910	T	0.16171	0.0389	L	0.33137	0.985	0.09310	N	1	P	0.42973	0.796	B	0.37508	0.252	T	0.14727	-1.0462	10	0.22109	T	0.4	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	256	Q9BXA7	TSSK1_HUMAN	N	256	ENSP00000375081:D256N	ENSP00000375081:D256N	D	-	1	0	TSSK1B	112797670	0.002000	0.14202	0.117000	0.21633	0.119000	0.20118	0.373000	0.20484	0.308000	0.22923	0.313000	0.20887	GAC		0.612	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028	
YTHDC2	64848	broad.mit.edu	37	5	112902950	112902950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:112902950C>T	ENST00000161863.4	+	22	3217	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1002					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.R1002*(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)		GAAAAAAGTACGATTTCATCC	0.413																																					p.R1002X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3004T	5						.						145.0	131.0	136.0					5																	112902950		2202	4300	6502	112930849	SO:0001587	stop_gained	64848	exon22			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.3004C>T	5.37:g.112902950C>T	ENSP00000161863:p.Arg1002*		112930849	NM_022828	B2RP66	Nonsense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	44	10.680220	0.99449	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	.	.	.	5.52	4.6	0.57074	.	0.065867	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	13.0409	0.58899	0.282:0.7179:0.0:0.0	.	.	.	.	X	1002;912	.	ENSP00000161863:R1002X	R	+	1	2	YTHDC2	112930849	0.852000	0.29690	0.999000	0.59377	0.997000	0.91878	1.519000	0.35888	2.578000	0.87016	0.655000	0.94253	CGA		0.413	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
CTNND2	1501	broad.mit.edu	37	5	11346675	11346675	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:11346675C>A	ENST00000304623.8	-	9	1626	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H	CTNND2_ENST00000359640.2_Missense_Mutation_p.Q479H|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q142H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q388H|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q46H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	479					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.Q479H(1)		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						CGGCGGCATTCTGTGGGCCGT	0.612																																					p.Q479H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1437T	5						.						40.0	45.0	43.0					5																	11346675		2203	4300	6503	11399675	SO:0001583	missense	1501	exon9			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.1437G>T	5.37:g.11346675C>A	ENSP00000307134:p.Gln479His		11399675	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509436	0.64522	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77620	-1.0;-1.08;-0.99;-1.11;-1.1	5.63	5.63	0.86233	.	0.417026	0.21118	N	0.079864	T	0.77150	0.4088	L	0.29908	0.895	0.47308	D	0.999389	P;P;P	0.44090	0.676;0.676;0.826	P;P;B	0.48654	0.585;0.585;0.259	T	0.76830	-0.2814	10	0.45353	T	0.12	-4.3655	19.7468	0.96255	0.0:1.0:0.0:0.0	.	142;46;479	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	479;479;388;46;142	ENSP00000307134:Q479H;ENSP00000352661:Q479H;ENSP00000426510:Q388H;ENSP00000391155:Q46H;ENSP00000426887:Q142H	ENSP00000307134:Q479H	Q	-	3	2	CTNND2	11399675	1.000000	0.71417	0.803000	0.32268	0.918000	0.54935	4.560000	0.60802	2.681000	0.91329	0.585000	0.79938	CAG		0.612	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
KCNN2	3781	broad.mit.edu	37	5	113740367	113740367	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:113740367T>C	ENST00000512097.3	+	4	1833	c.815T>C	c.(814-816)gTc>gCc	p.V272A	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.V272A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	272					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.V272A(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ATTGCCAGAGTCATGCTTTTA	0.398																																					p.V272A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T815C	5						.						134.0	132.0	133.0					5																	113740367		2202	4300	6502	113768266	SO:0001583	missense	3781	exon3			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.815T>C	5.37:g.113740367T>C	ENSP00000427120:p.Val272Ala		113768266	NM_021614	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.988472	0.53934	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	T;T	0.26518	1.73;1.73	5.42	5.42	0.78866	.	0.114530	0.64402	D	0.000018	T	0.24851	0.0603	L	0.57536	1.79	0.80722	D	1	P	0.41131	0.739	B	0.32090	0.14	T	0.05869	-1.0859	10	0.48119	T	0.1	-7.5952	15.1291	0.72507	0.0:0.0:0.0:1.0	.	272	Q9H2S1	KCNN2_HUMAN	A	272	ENSP00000427120:V272A;ENSP00000264773:V272A	ENSP00000264773:V272A	V	+	2	0	KCNN2	113768266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.942000	0.87708	2.057000	0.61298	0.402000	0.26972	GTC		0.398	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	
TRIM36	55521	broad.mit.edu	37	5	114466469	114466469	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:114466469C>T	ENST00000282369.3	-	9	1773	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H	TRIM36_ENST00000513154.1_Missense_Mutation_p.R539H|TRIM36_ENST00000514154.1_Missense_Mutation_p.R396H	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	551	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R551H(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CACTTGGATGCGTTCTGCAGC	0.423																																					p.R551H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1652A	5						.						164.0	155.0	158.0					5																	114466469		2202	4300	6502	114494368	SO:0001583	missense	55521	exon9			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1652G>A	5.37:g.114466469C>T	ENSP00000282369:p.Arg551His		114494368	NM_018700	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828222	0.90955	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.61510	0.1;0.1;0.1	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.69142	0.962;0.581	T	0.73161	-0.4070	10	0.46703	T	0.11	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	539;551	E9PFI8;Q9NQ86	.;TRI36_HUMAN	H	551;539;396	ENSP00000282369:R551H;ENSP00000423934:R539H;ENSP00000424259:R396H	ENSP00000282369:R551H	R	-	2	0	TRIM36	114494368	1.000000	0.71417	0.328000	0.25416	0.979000	0.70002	5.585000	0.67497	2.802000	0.96397	0.563000	0.77884	CGC		0.423	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	
CCDC112	153733	broad.mit.edu	37	5	114604673	114604673	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:114604673G>A	ENST00000512261.1	-	10	1620	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	CCDC112_ENST00000506442.1_Missense_Mutation_p.P370S|CCDC112_ENST00000379611.5_Missense_Mutation_p.P485S|CCDC112_ENST00000395557.4_Missense_Mutation_p.P402S			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	402								p.P485S(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)		AGCCTAGAGGGATCTCTACTA	0.378																																					p.P485S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1453T	5						.						174.0	169.0	170.0					5																	114604673		2202	4300	6502	114632572	SO:0001583	missense	153733	exon9			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.1204C>T	5.37:g.114604673G>A	ENSP00000423712:p.Pro402Ser		114632572	NM_001040440	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121793	0.77436	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.24350	1.87;1.94;1.86;1.94	5.9	5.02	0.67125	.	0.051879	0.85682	D	0.000000	T	0.45498	0.1345	L	0.48362	1.52	0.43292	D	0.995276	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.43065	-0.9414	10	0.66056	D	0.02	-2.2783	15.936	0.79707	0.0:0.1358:0.8642:0.0	.	370;485;402	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	S	485;402;370;402	ENSP00000368931:P485S;ENSP00000423712:P402S;ENSP00000424876:P370S;ENSP00000378925:P402S	ENSP00000368931:P485S	P	-	1	0	CCDC112	114632572	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	3.935000	0.56560	1.474000	0.48178	0.650000	0.86243	CCC		0.378	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	115319031	115319031	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:115319031T>C	ENST00000357872.4	+	2	867	c.743T>C	c.(742-744)tTc>tCc	p.F248S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		248						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F248S(1)									AGGTATGTTTTCCCTTGTTTT	0.398																																					p.F248S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T743C	5						.						78.0	75.0	76.0					5																	115319031		2202	4300	6502	115346930	SO:0001583	missense	206338	exon2																														ENST00000357872.4:c.743T>C	5.37:g.115319031T>C	ENSP00000350541:p.Phe248Ser		115346930	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714499	0.68730	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.04317	3.65	5.4	5.4	0.78164	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.074363	0.56097	D	0.000022	T	0.31949	0.0813	H	0.98446	4.235	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.45629	-0.9248	10	0.87932	D	0	.	8.8245	0.35047	0.2668:0.0:0.0:0.7332	.	248	Q6Q4G3	AMPQ_HUMAN	S	248;237	ENSP00000350541:F248S	ENSP00000350541:F248S	F	+	2	0	AC010282.1	115346930	0.997000	0.39634	0.989000	0.46669	0.992000	0.81027	2.829000	0.48128	2.166000	0.68216	0.528000	0.53228	TTC		0.398	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
LVRN	206338	broad.mit.edu	37	5	115320353	115320353	+	Missense_Mutation	SNP	G	G	A	rs377469881		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:115320353G>A	ENST00000357872.4	+	3	1049	c.925G>A	c.(925-927)Gca>Aca	p.A309T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		309						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A309T(2)									TTACTTAGTCGCATTTGTTAT	0.433																																					p.A309T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G925A	5						.	G	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	116.0	88.0	98.0		925	4.9	0.1	5		98	0,8600		0,0,4300	no	missense	AQPEP	NM_173800.4	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	309/991	115320353	1,13003	2202	4300	6502	115348252	SO:0001583	missense	206338	exon3																														ENST00000357872.4:c.925G>A	5.37:g.115320353G>A	ENSP00000350541:p.Ala309Thr		115348252	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390618	0.62066	2.27E-4	0.0	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.09630	2.96	4.93	4.93	0.64822	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.64402	D	0.000009	T	0.46073	0.1374	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62062	-0.6933	10	0.72032	D	0.01	.	17.274	0.87110	0.0:0.0:1.0:0.0	.	309	Q6Q4G3	AMPQ_HUMAN	T	309;298	ENSP00000350541:A309T	ENSP00000350541:A309T	A	+	1	0	AC010282.1	115348252	1.000000	0.71417	0.083000	0.20561	0.159000	0.22180	5.966000	0.70395	2.449000	0.82847	0.557000	0.71058	GCA		0.433	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
CTNND2	1501	broad.mit.edu	37	5	11732266	11732266	+	Silent	SNP	G	G	A	rs201949668		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:11732266G>A	ENST00000304623.8	-	2	345	c.156C>T	c.(154-156)ctC>ctT	p.L52L	CTNND2_ENST00000359640.2_Silent_p.L52L|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	52					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.L52L(1)		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						TGACTGAGGCGAGGATGGCAG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16395	0.0		0.0	False		,,,				2504	0.0				p.L52L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	5						.	G		1,4405	2.1+/-5.4	0,1,2202	140.0	135.0	137.0		156	-9.4	0.5	5		137	0,8600		0,0,4300	no	coding-synonymous	CTNND2	NM_001332.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		52/1226	11732266	1,13005	2203	4300	6503	11785266	SO:0001819	synonymous_variant	1501	exon2			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.156C>T	5.37:g.11732266G>A			11785266	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																				0.443	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
LVRN	206338	broad.mit.edu	37	5	115338990	115338990	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:115338990G>A	ENST00000357872.4	+	12	2074	c.1950G>A	c.(1948-1950)ttG>ttA	p.L650L	AQPEP_ENST00000395528.2_Silent_p.L167L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		650						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L650L(1)									GGGTGATTTTGAATTTGAATA	0.294																																					p.L650L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1950A	5						.						57.0	63.0	61.0					5																	115338990		2201	4289	6490	115366889	SO:0001819	synonymous_variant	206338	exon12																														ENST00000357872.4:c.1950G>A	5.37:g.115338990G>A			115366889	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	CCDS4124.1																																																																																				0.294	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
DTWD2	285605	broad.mit.edu	37	5	118176696	118176696	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:118176696T>G	ENST00000510708.1	-	6	846	c.813A>C	c.(811-813)aaA>aaC	p.K271N	DTWD2_ENST00000304058.4_Missense_Mutation_p.K205N|DTWD2_ENST00000515439.3_Missense_Mutation_p.K175N	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	271								p.K271N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		ATAATCCATTTTTCAGAAGGT	0.373																																					p.K271N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A813C	5						.						132.0	117.0	122.0					5																	118176696		2202	4300	6502	118204595	SO:0001583	missense	285605	exon6				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.813A>C	5.37:g.118176696T>G	ENSP00000425048:p.Lys271Asn		118204595	NM_173666		Missense_Mutation	SNP	ENST00000510708.1	37	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.317721	0.60524	.	.	ENSG00000169570	ENST00000304058;ENST00000510708;ENST00000515439	.	.	.	5.53	-1.13	0.09775	.	0.109274	0.64402	D	0.000011	T	0.46014	0.1371	L	0.61218	1.895	0.37078	D	0.898866	P	0.43477	0.808	B	0.41135	0.348	T	0.49532	-0.8930	9	0.46703	T	0.11	-9.0338	10.0143	0.42006	0.0:0.3482:0.0:0.6518	.	271	Q8NBA8	DTWD2_HUMAN	N	205;271;175	.	ENSP00000302892:K205N	K	-	3	2	DTWD2	118204595	0.930000	0.31532	0.894000	0.35097	0.988000	0.76386	-0.021000	0.12504	-0.440000	0.07211	0.528000	0.53228	AAA		0.373	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666	
DMXL1	1657	broad.mit.edu	37	5	118485181	118485181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:118485181C>T	ENST00000311085.8	+	18	3739	c.3659C>T	c.(3658-3660)tCg>tTg	p.S1220L	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1220L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1220								p.S1220L(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTTTCTTTATCGTGGGTCCGG	0.433																																					p.S1220L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3659T	5						.						134.0	135.0	135.0					5																	118485181		2202	4300	6502	118513080	SO:0001583	missense	1657	exon18			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3659C>T	5.37:g.118485181C>T	ENSP00000309690:p.Ser1220Leu		118513080	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258623	0.80246	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01406	4.93;4.93	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.10809	0.0264	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00196	-1.1931	10	0.87932	D	0	-11.8664	19.5134	0.95153	0.0:1.0:0.0:0.0	.	1220;1220	F5H269;Q9Y485	.;DMXL1_HUMAN	L	1220	ENSP00000309690:S1220L;ENSP00000439479:S1220L	ENSP00000309690:S1220L	S	+	2	0	DMXL1	118513080	1.000000	0.71417	0.944000	0.38274	0.986000	0.74619	7.445000	0.80570	2.696000	0.92011	0.655000	0.94253	TCG		0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
DMXL1	1657	broad.mit.edu	37	5	118532070	118532070	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:118532070T>G	ENST00000311085.8	+	31	7542	c.7462T>G	c.(7462-7464)Tcc>Gcc	p.S2488A	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2488A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2488								p.S2488A(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTTAGTTGGTCCTTGATGCG	0.383																																					p.S2488A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7462G	5						.						214.0	198.0	204.0					5																	118532070		2202	4300	6502	118559969	SO:0001583	missense	1657	exon31			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7462T>G	5.37:g.118532070T>G	ENSP00000309690:p.Ser2488Ala		118559969	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	8.660	0.900217	0.17686	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09163	3.01;3.01	5.44	5.44	0.79542	.	0.116175	0.64402	D	0.000012	T	0.05593	0.0147	N	0.11064	0.09	0.41461	D	0.988042	B;B	0.15141	0.012;0.004	B;B	0.15484	0.013;0.009	T	0.33033	-0.9884	10	0.09338	T	0.73	-13.6018	11.1999	0.48734	0.0:0.0:0.1536:0.8464	.	2488;2488	F5H269;Q9Y485	.;DMXL1_HUMAN	A	2488	ENSP00000309690:S2488A;ENSP00000439479:S2488A	ENSP00000309690:S2488A	S	+	1	0	DMXL1	118559969	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.382000	0.66213	2.068000	0.61886	0.383000	0.25322	TCC		0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
FAM170A	340069	broad.mit.edu	37	5	118968538	118968538	+	Missense_Mutation	SNP	G	G	A	rs372002549		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	
PPIC	5480	broad.mit.edu	37	5	122359633	122359633	+	Silent	SNP	C	C	T	rs141117441		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:122359633C>T	ENST00000306442.4	-	5	691	c.576G>A	c.(574-576)tcG>tcA	p.S192S	RN7SL689P_ENST00000577215.1_RNA	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	192	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S192S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TGTTGATGATCGAGCAGTTGG	0.478																																					p.S192S	Ovarian(99;690 1502 20765 45543 49568)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G576A	5						.	C		1,4405	2.1+/-5.4	0,1,2202	272.0	243.0	253.0		576	2.1	0.9	5	dbSNP_134	253	0,8600		0,0,4300	no	coding-synonymous	PPIC	NM_000943.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		192/213	122359633	1,13005	2203	4300	6503	122387532	SO:0001819	synonymous_variant	5480	exon5			S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.576G>A	5.37:g.122359633C>T			122387532	NM_000943	A4LBB5	Silent	SNP	ENST00000306442.4	37	CCDS4133.1																																																																																				0.478	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943	
CEP120	153241	broad.mit.edu	37	5	122725784	122725784	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:122725784C>A	ENST00000306467.5	-	8	1393	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N	CEP120_ENST00000306481.6_Missense_Mutation_p.K337N|CEP120_ENST00000328236.5_Missense_Mutation_p.K363N			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	363					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.K363N(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						AAACTTTCTTCTTTGAATGCT	0.363																																					p.K337N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1011T	5						.						117.0	105.0	109.0					5																	122725784		1844	4087	5931	122753683	SO:0001583	missense	153241	exon8			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.1089G>T	5.37:g.122725784C>A	ENSP00000303058:p.Lys363Asn		122753683	NM_001166226	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422223	0.25639	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.46063	2.2;2.2;2.2;0.88	5.38	3.45	0.39498	.	0.547006	0.19596	N	0.110519	T	0.27134	0.0665	N	0.21448	0.665	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.05241	-1.0897	10	0.22109	T	0.4	-2.5861	10.9066	0.47084	0.1463:0.7127:0.1411:0.0	.	363	Q8N960	CE120_HUMAN	N	363;363;337;337	ENSP00000303058:K363N;ENSP00000327504:K363N;ENSP00000307419:K337N;ENSP00000421620:K337N	ENSP00000303058:K363N	K	-	3	2	CEP120	122753683	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.595000	0.46197	1.246000	0.43901	0.467000	0.42956	AAG		0.363	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223	
ZNF608	57507	broad.mit.edu	37	5	123979353	123979353	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:123979353G>T	ENST00000306315.5	-	6	4582	c.4147C>A	c.(4147-4149)Cat>Aat	p.H1383N	ZNF608_ENST00000504926.1_Missense_Mutation_p.H956N|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1383							metal ion binding (GO:0046872)	p.H1383N(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACAGGATAATGAAATCCTGGA	0.393																																					p.H1383N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4147A	5						.						128.0	111.0	117.0					5																	123979353		2203	4300	6503	124007252	SO:0001583	missense	57507	exon6			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.4147C>A	5.37:g.123979353G>T	ENSP00000307746:p.His1383Asn		124007252	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648836	0.67358	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.46063	0.88;0.9	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.56769	1.78	0.46437	D	0.999044	D	0.62365	0.991	P	0.59115	0.852	T	0.44019	-0.9355	10	0.06365	T	0.9	-18.4805	20.5801	0.99389	0.0:0.0:1.0:0.0	.	1383	Q9ULD9	ZN608_HUMAN	N	956;1383	ENSP00000427657:H956N;ENSP00000307746:H1383N	ENSP00000307746:H1383N	H	-	1	0	ZNF608	124007252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.784000	0.75084	2.873000	0.98535	0.643000	0.83706	CAT		0.393	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
ZNF608	57507	broad.mit.edu	37	5	123984155	123984155	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:123984155C>A	ENST00000306315.5	-	4	2357	c.1922G>T	c.(1921-1923)aGa>aTa	p.R641I	ZNF608_ENST00000504926.1_Missense_Mutation_p.R214I	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	641							metal ion binding (GO:0046872)	p.R641I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CATCAGCTCTCTCTTTCCCTT	0.502																																					p.R641I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1922T	5						.						70.0	72.0	72.0					5																	123984155		2203	4300	6503	124012054	SO:0001583	missense	57507	exon4			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1922G>T	5.37:g.123984155C>A	ENSP00000307746:p.Arg641Ile		124012054	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727692	0.30593	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.46819	0.87;0.86	5.61	4.56	0.56223	.	0.046223	0.85682	D	0.000000	T	0.46210	0.1381	M	0.62723	1.935	0.58432	D	0.999993	B	0.19583	0.037	B	0.15484	0.013	T	0.41124	-0.9526	10	0.37606	T	0.19	-25.2675	15.403	0.74855	0.0:0.9223:0.0:0.0777	.	641	Q9ULD9	ZN608_HUMAN	I	214;641;641;641	ENSP00000427657:R214I;ENSP00000307746:R641I	ENSP00000307746:R641I	R	-	2	0	ZNF608	124012054	0.998000	0.40836	1.000000	0.80357	0.759000	0.43091	2.362000	0.44169	2.635000	0.89317	0.551000	0.68910	AGA		0.502	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
MEGF10	84466	broad.mit.edu	37	5	126705623	126705623	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:126705623T>C	ENST00000274473.6	+	6	608	c.341T>C	c.(340-342)gTc>gCc	p.V114A	MEGF10_ENST00000418761.2_Missense_Mutation_p.V114A|MEGF10_ENST00000503335.2_Missense_Mutation_p.V114A|MEGF10_ENST00000508365.1_Missense_Mutation_p.V114A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	114	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.V114A(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GATAAATGTGTCCATGGTCGC	0.473																																					p.V114A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T341C	5						.						186.0	157.0	167.0					5																	126705623		2203	4300	6503	126733522	SO:0001583	missense	84466	exon6			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.341T>C	5.37:g.126705623T>C	ENSP00000274473:p.Val114Ala		126733522	NM_032446	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449471	0.63178	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.46063	0.88;2.66;2.66;0.88	5.44	5.44	0.79542	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000006	T	0.33933	0.0880	L	0.47078	1.49	0.58432	D	0.999997	B;B	0.20368	0.002;0.044	B;B	0.18263	0.021;0.014	T	0.20672	-1.0268	10	0.02654	T	1	-18.0695	15.5568	0.76200	0.0:0.0:0.0:1.0	.	114;114	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	A	114	ENSP00000423354:V114A;ENSP00000423195:V114A;ENSP00000416284:V114A;ENSP00000274473:V114A	ENSP00000274473:V114A	V	+	2	0	MEGF10	126733522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.172000	0.71932	2.073000	0.62155	0.456000	0.33151	GTC		0.473	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	
SLC12A2	6558	broad.mit.edu	37	5	127448597	127448597	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:127448597T>C	ENST00000262461.2	+	2	1037	c.848T>C	c.(847-849)gTg>gCg	p.V283A	SLC12A2_ENST00000343225.4_Missense_Mutation_p.V283A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	283					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.V283A(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)	AAAGGAGTCGTGAAGTTTGGC	0.378																																					p.V283A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T848C	5						.						127.0	122.0	124.0					5																	127448597		2203	4300	6503	127476496	SO:0001583	missense	6558	exon2				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.848T>C	5.37:g.127448597T>C	ENSP00000262461:p.Val283Ala		127476496	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187998	0.78789	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.85861	-2.02;-2.04	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	L	0.53561	1.675	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.64877	0.93;0.853	D	0.90277	0.4312	10	0.72032	D	0.01	.	13.7851	0.63105	0.0:0.0:0.0:1.0	.	283;283	P55011-3;P55011	.;S12A2_HUMAN	A	283	ENSP00000262461:V283A;ENSP00000340878:V283A	ENSP00000262461:V283A	V	+	2	0	SLC12A2	127476496	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.151000	0.77411	2.137000	0.66172	0.455000	0.32223	GTG		0.378	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
SLC12A2	6558	broad.mit.edu	37	5	127516606	127516606	+	Silent	SNP	G	G	A	rs371244344		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:127516606G>A	ENST00000262461.2	+	23	3321	c.3132G>A	c.(3130-3132)acG>acA	p.T1044T	SLC12A2_ENST00000343225.4_Silent_p.T1028T|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1044					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.T1044T(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)	ACCTTCTGACGACCAAGAAAA	0.318																																					p.T1044T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3132A	5						.	G		0,4406		0,0,2203	140.0	150.0	146.0		3132	-2.3	1.0	5		146	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SLC12A2	NM_001046.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		1044/1213	127516606	1,13003	2203	4299	6502	127544505	SO:0001819	synonymous_variant	6558	exon23				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.3132G>A	5.37:g.127516606G>A			127544505	NM_001046	Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	CCDS4144.1																																																																																				0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
SLC12A2	6558	broad.mit.edu	37	5	127520545	127520545	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:127520545T>C	ENST00000262461.2	+	26	3689	c.3500T>C	c.(3499-3501)gTc>gCc	p.V1167A	SLC12A2_ENST00000343225.4_Missense_Mutation_p.V1151A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1167					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.V1167A(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)	AATATTATTGTCATGTAAGTA	0.294																																					p.V1167A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3500C	5						.						83.0	91.0	88.0					5																	127520545		2200	4294	6494	127548444	SO:0001583	missense	6558	exon26				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.3500T>C	5.37:g.127520545T>C	ENSP00000262461:p.Val1167Ala		127548444	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176529	0.78564	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.89343	-2.5;-2.5	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.94238	0.8150	M	0.84948	2.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.99	D	0.94497	0.7706	10	0.59425	D	0.04	.	11.7765	0.51989	0.1313:0.0:0.0:0.8687	.	1151;1167	P55011-3;P55011	.;S12A2_HUMAN	A	1167;1151	ENSP00000262461:V1167A;ENSP00000340878:V1151A	ENSP00000262461:V1167A	V	+	2	0	SLC12A2	127548444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.034000	0.70933	2.231000	0.72958	0.455000	0.32223	GTC		0.294	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
FBN2	2201	broad.mit.edu	37	5	127614367	127614367	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:127614367C>A	ENST00000508053.1	-	63	8279	c.7305G>T	c.(7303-7305)aaG>aaT	p.K2435N	FBN2_ENST00000262464.4_Missense_Mutation_p.K2435N			P35556	FBN2_HUMAN	fibrillin 2	2435	TB 9.				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.K2435N(1)		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)		GAGGACATATCTTTTTGTACT	0.443																																					p.K2435N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7305T	5						.						110.0	106.0	107.0					5																	127614367		2203	4300	6503	127642266	SO:0001583	missense	2201	exon57			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.7305G>T	5.37:g.127614367C>A	ENSP00000424571:p.Lys2435Asn		127642266	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724671	0.68959	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.93307	-3.2;-3.2	5.08	3.22	0.36961	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000019	D	0.94739	0.8302	M	0.72479	2.2	0.38191	D	0.939896	D	0.65815	0.995	D	0.72625	0.978	D	0.92710	0.6182	10	0.33940	T	0.23	.	6.0788	0.19931	0.0:0.526:0.0:0.474	.	2435	P35556	FBN2_HUMAN	N	2435	ENSP00000262464:K2435N;ENSP00000424571:K2435N	ENSP00000262464:K2435N	K	-	3	2	FBN2	127642266	0.994000	0.37717	1.000000	0.80357	0.939000	0.58152	0.391000	0.20784	0.755000	0.32990	0.650000	0.86243	AAG		0.443	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	broad.mit.edu	37	5	127624878	127624878	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:127624878G>T	ENST00000508053.1	-	58	7552	c.6578C>A	c.(6577-6579)tCt>tAt	p.S2193Y	FBN2_ENST00000262464.4_Missense_Mutation_p.S2193Y			P35556	FBN2_HUMAN	fibrillin 2	2193	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.S2193Y(1)		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)		ACAGCGAAAAGATCCGTCGGT	0.413																																					p.S2193Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6578A	5						.						163.0	152.0	155.0					5																	127624878		2203	4300	6503	127652777	SO:0001583	missense	2201	exon52			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.6578C>A	5.37:g.127624878G>T	ENSP00000424571:p.Ser2193Tyr		127652777	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130269	0.94473	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95412	-3.7;-3.7	5.76	5.76	0.90799	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000010	D	0.98457	0.9486	M	0.94101	3.495	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98444	1.0588	10	0.56958	D	0.05	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	2193	P35556	FBN2_HUMAN	Y	2193	ENSP00000262464:S2193Y;ENSP00000424571:S2193Y	ENSP00000262464:S2193Y	S	-	2	0	FBN2	127652777	1.000000	0.71417	0.990000	0.47175	0.907000	0.53573	9.722000	0.98770	2.882000	0.98803	0.655000	0.94253	TCT		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
SLC27A6	28965	broad.mit.edu	37	5	128302092	128302092	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:128302092A>C	ENST00000262462.4	+	1	1272	c.262A>C	c.(262-264)Agg>Cgg	p.R88R	SLC27A6_ENST00000395266.1_Silent_p.R88R|SLC27A6_ENST00000506176.1_Silent_p.R88R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	88					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R88R(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTAGACAAAAGGAGCAGCAG	0.488																																					p.R88R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A262C	5						.						102.0	94.0	97.0					5																	128302092		2203	4300	6503	128329991	SO:0001819	synonymous_variant	28965	exon1			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.262A>C	5.37:g.128302092A>C			128329991	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	CCDS4145.1																																																																																				0.488	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
SLC27A6	28965	broad.mit.edu	37	5	128359368	128359368	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:128359368G>T	ENST00000262462.4	+	6	2230	c.1220G>T	c.(1219-1221)aGa>aTa	p.R407I	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R407I|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R407I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	407					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R407I(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAACCCATGAGAAATGAGCAG	0.343																																					p.R407I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1220T	5						.						73.0	76.0	75.0					5																	128359368		2203	4300	6503	128387267	SO:0001583	missense	28965	exon6			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1220G>T	5.37:g.128359368G>T	ENSP00000262462:p.Arg407Ile		128387267	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589856	0.66105	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.41065	1.01;1.01;1.01	4.12	4.12	0.48240	AMP-dependent synthetase/ligase (1);	0.553713	0.19105	N	0.122617	T	0.72661	0.3488	M	0.93375	3.41	0.58432	D	0.999999	D	0.67145	0.996	D	0.67548	0.952	T	0.81215	-0.1034	9	.	.	.	0.6935	17.6783	0.88236	0.0:0.0:1.0:0.0	.	407	Q9Y2P4	S27A6_HUMAN	I	407	ENSP00000262462:R407I;ENSP00000378684:R407I;ENSP00000421024:R407I	.	R	+	2	0	SLC27A6	128387267	1.000000	0.71417	0.989000	0.46669	0.884000	0.51177	4.296000	0.59055	2.586000	0.87340	0.563000	0.77884	AGA		0.343	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
SLC27A6	28965	broad.mit.edu	37	5	128362872	128362872	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:128362872C>A	ENST00000262462.4	+	7	2312	c.1302C>A	c.(1300-1302)ttC>ttA	p.F434L	SLC27A6_ENST00000395266.1_Missense_Mutation_p.F434L|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F434L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	434					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.F434L(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAAATCCCTTCTTTGGCTATG	0.378																																					p.F434L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1302A	5						.						102.0	103.0	102.0					5																	128362872		2203	4300	6503	128390771	SO:0001583	missense	28965	exon7			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1302C>A	5.37:g.128362872C>A	ENSP00000262462:p.Phe434Leu		128390771	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758880	0.69763	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.44482	0.92;0.92;0.92	4.53	3.66	0.41972	AMP-dependent synthetase/ligase (1);	0.227351	0.47455	D	0.000235	T	0.63283	0.2498	M	0.85099	2.735	0.47341	D	0.999397	D	0.65815	0.995	D	0.67382	0.951	T	0.67377	-0.5686	9	.	.	.	-0.1404	10.0588	0.42261	0.0:0.8428:0.0:0.1572	.	434	Q9Y2P4	S27A6_HUMAN	L	434	ENSP00000262462:F434L;ENSP00000378684:F434L;ENSP00000421024:F434L	.	F	+	3	2	SLC27A6	128390771	0.995000	0.38212	1.000000	0.80357	0.945000	0.59286	0.431000	0.21444	1.513000	0.48852	0.467000	0.42956	TTC		0.378	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
ADAMTS19	171019	broad.mit.edu	37	5	129070678	129070678	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:129070678T>C	ENST00000274487.4	+	22	3493	c.3348T>C	c.(3346-3348)caT>caC	p.H1116H	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1116	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H1116H(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)		AATGCATGCATAAGATCACAG	0.373																																					p.H1116H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3348C	5						.						108.0	107.0	107.0					5																	129070678		2203	4300	6503	129098577	SO:0001819	synonymous_variant	171019	exon22			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.3348T>C	5.37:g.129070678T>C			129098577	NM_133638		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.373	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
FNIP1	96459	broad.mit.edu	37	5	131014771	131014771	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:131014771G>A	ENST00000510461.1	-	12	1395	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	FNIP1_ENST00000307968.7_Missense_Mutation_p.R406C|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.R434C|FNIP1_ENST00000307954.8_Missense_Mutation_p.R389C	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	434					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R434C(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTCATGAAACGATAGCAAAGG	0.348																																					p.R434C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1300T	5						.						74.0	69.0	71.0					5																	131014771		2203	4300	6503	131042670	SO:0001583	missense	96459	exon12			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1300C>T	5.37:g.131014771G>A	ENSP00000421985:p.Arg434Cys		131042670	NM_133372	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896486	0.91962	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.45	5.45	0.79879	.	.	.	.	.	T	0.56411	0.1983	M	0.77103	2.36	0.80722	D	1	D;D;D;P	0.89917	1.0;0.998;1.0;0.884	P;P;P;B	0.60682	0.878;0.804;0.878;0.222	T	0.60073	-0.7334	9	0.72032	D	0.01	-6.9804	19.6324	0.95717	0.0:0.0:1.0:0.0	.	434;434;406;434	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	C	406;389;194;434;434	ENSP00000309266:R406C;ENSP00000310453:R389C;ENSP00000421985:R434C;ENSP00000425619:R434C	ENSP00000310453:R389C	R	-	1	0	FNIP1	131042670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.169000	0.94788	2.706000	0.92434	0.655000	0.94253	CGT		0.348	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	
IL3	3562	broad.mit.edu	37	5	131398478	131398478	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:131398478C>A	ENST00000296870.2	+	5	631	c.453C>A	c.(451-453)atC>atA	p.I151I		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	151					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)	p.I151I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GCCTCGCGATCTTTTGAGTCC	0.507											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I151I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453A	5						.						69.0	70.0	70.0					5																	131398478		2203	4300	6503	131426377	SO:0001819	synonymous_variant	3562	exon5			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.453C>A	5.37:g.131398478C>A		1587	131426377	NM_000588	Q6GS87	Silent	SNP	ENST00000296870.2	37	CCDS4149.1																																																																																				0.507	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588	
IL4	3565	broad.mit.edu	37	5	132018272	132018272	+	Missense_Mutation	SNP	C	C	T	rs550558636		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:132018272C>T	ENST00000231449.2	+	4	520	c.455C>T	c.(454-456)tCg>tTg	p.S152L	IL4_ENST00000350025.2_Missense_Mutation_p.S136L	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	152					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)	p.S152L(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		TCAAAGTGTTCGAGCTGAATA	0.294													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16275	0.0		0.0	False		,,,				2504	0.0				p.S136L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C407T	5						.						71.0	71.0	71.0					5																	132018272		2203	4300	6503	132046171	SO:0001583	missense	3565	exon3			M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.455C>T	5.37:g.132018272C>T	ENSP00000231449:p.Ser152Leu		132046171	NM_172348	Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	C	2.968	-0.213083	0.06140	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.46063	0.88;0.88	5.24	-4.93	0.03066	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	4.393380	0.00531	N	0.000202	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.006;0.022	B;B	0.06405	0.002;0.002	T	0.24621	-1.0155	10	0.54805	T	0.06	.	6.8421	0.23969	0.5045:0.224:0.2715:0.0	.	136;152	Q5FC01;P05112	.;IL4_HUMAN	L	152;136	ENSP00000231449:S152L;ENSP00000325190:S136L	ENSP00000231449:S152L	S	+	2	0	IL4	132046171	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.120000	0.10660	-1.001000	0.03434	-1.653000	0.00756	TCG		0.294	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589	
AFF4	27125	broad.mit.edu	37	5	132232041	132232041	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:132232041A>C	ENST00000265343.5	-	11	2660	c.2281T>G	c.(2281-2283)Tcc>Gcc	p.S761A	AFF4_ENST00000378595.3_Missense_Mutation_p.S761A	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	761					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S761A(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTTGTTGGAAACTTTTTCT	0.428																																					p.S761A	Ovarian(126;889 1733 2942 10745 11605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2281G	5						.						110.0	111.0	111.0					5																	132232041		2203	4300	6503	132259940	SO:0001583	missense	27125	exon11			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2281T>G	5.37:g.132232041A>C	ENSP00000265343:p.Ser761Ala		132259940	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340642	0.41498	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.65364	-0.15;-0.15	5.03	3.87	0.44632	.	0.056753	0.64402	D	0.000001	T	0.65144	0.2663	L	0.39898	1.24	0.51233	D	0.999919	D;B	0.61697	0.99;0.258	D;B	0.72982	0.979;0.176	T	0.60767	-0.7198	10	0.07482	T	0.82	-1.0358	10.8534	0.46784	0.9252:0.0:0.0748:0.0	.	761;761	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	A	761	ENSP00000265343:S761A;ENSP00000367858:S761A	ENSP00000265343:S761A	S	-	1	0	AFF4	132259940	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.356000	0.90085	0.863000	0.35553	-0.256000	0.11100	TCC		0.428	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
HSPA4	3308	broad.mit.edu	37	5	132424191	132424191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:132424191G>T	ENST00000304858.2	+	9	1370	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	361					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.E361*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCGGTAAAGAACTTAGTAC	0.358																																					p.E361X	Colon(114;1299 1588 6063 12302 48757)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1081T	5						.						127.0	118.0	121.0					5																	132424191		2203	4300	6503	132452090	SO:0001587	stop_gained	3308	exon9			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1081G>T	5.37:g.132424191G>T	ENSP00000302961:p.Glu361*		132452090	NM_002154	O95756|Q2TAL4|Q9BUK9	Nonsense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	38	7.048918	0.98029	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-22.2348	20.0795	0.97766	0.0:0.0:1.0:0.0	.	.	.	.	X	361	.	ENSP00000302961:E361X	E	+	1	0	HSPA4	132452090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.747000	0.94245	0.650000	0.86243	GAA		0.358	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	
HSPA4	3308	broad.mit.edu	37	5	132432942	132432942	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:132432942G>A	ENST00000304858.2	+	15	2182	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	631					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.K631K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGAGACAAGCTTAGTGGTG	0.403																																					p.K631K	Colon(114;1299 1588 6063 12302 48757)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1893A	5						.						252.0	232.0	239.0					5																	132432942		2203	4300	6503	132460841	SO:0001819	synonymous_variant	3308	exon15			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1893G>A	5.37:g.132432942G>A			132460841	NM_002154	O95756|Q2TAL4|Q9BUK9	Silent	SNP	ENST00000304858.2	37	CCDS4166.1																																																																																				0.403	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	
CDKL3	51265	broad.mit.edu	37	5	133644344	133644344	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:133644344G>A	ENST00000265334.4	-	8	1074	c.956C>T	c.(955-957)tCt>tTt	p.S319F	CDKL3_ENST00000523054.1_Missense_Mutation_p.S130F|CDKL3_ENST00000435240.2_Missense_Mutation_p.S24F|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523832.1_Missense_Mutation_p.S319F|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435211.1_Missense_Mutation_p.S319F|CDKL3_ENST00000536186.1_Missense_Mutation_p.S24F|CDKL3_ENST00000609654.1_Missense_Mutation_p.S130F|CDKL3_ENST00000609383.1_Missense_Mutation_p.S24F|CDKL3_ENST00000521118.1_Missense_Mutation_p.S319F	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	319					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.S319F(1)		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)			ATTTTCTTTAGAACTCTCTTT	0.333																																					p.S319F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C956T	5						.						56.0	53.0	54.0					5																	133644344		1810	4066	5876	133672243	SO:0001583	missense	51265	exon8			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.956C>T	5.37:g.133644344G>A	ENSP00000265334:p.Ser319Phe		133672243	NM_001113575	D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	G	2.691	-0.273095	0.05716	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.73789	0.83;0.79;-0.73;-0.6;-0.78;-0.74;-0.74	5.66	-1.93	0.07594	.	0.736171	0.13096	N	0.414148	T	0.46425	0.1392	N	0.12746	0.255	0.09310	N	0.999996	B;B;B;B;B	0.12013	0.002;0.002;0.005;0.0;0.001	B;B;B;B;B	0.12156	0.004;0.003;0.007;0.001;0.001	T	0.21793	-1.0235	10	0.33940	T	0.23	-15.1247	0.3465	0.00342	0.2249:0.2288:0.1969:0.3494	.	130;24;24;130;319	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	F	24;24;319;130;319;319;319	ENSP00000441545:S24F;ENSP00000399807:S24F;ENSP00000265334:S319F;ENSP00000428500:S130F;ENSP00000428689:S319F;ENSP00000430496:S319F;ENSP00000395559:S319F	ENSP00000265334:S319F	S	-	2	0	CDKL3	133672243	0.986000	0.35501	0.174000	0.22961	0.140000	0.21249	-0.081000	0.11321	-0.462000	0.06984	-0.315000	0.08773	TCT		0.333	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575	
DDX46	9879	broad.mit.edu	37	5	134131698	134131698	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:134131698G>T	ENST00000354283.4	+	15	1947	c.1812G>T	c.(1810-1812)aaG>aaT	p.K604N	DDX46_ENST00000452510.2_Missense_Mutation_p.K604N			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	604	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K604N(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAAGAAAAGAAATTCTTGA	0.343																																					p.K604N	Colon(13;391 453 4901 21675 24897)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1812T	5						.						107.0	101.0	103.0					5																	134131698		2203	4300	6503	134159597	SO:0001583	missense	9879	exon15				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1812G>T	5.37:g.134131698G>T	ENSP00000346236:p.Lys604Asn		134159597	NM_014829	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.305174	0.23736	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.92099	-2.97;-2.97	4.92	3.0	0.34707	Helicase, C-terminal (1);	0.208122	0.51477	D	0.000094	D	0.82939	0.5146	N	0.20401	0.57	0.51767	D	0.999938	B	0.02656	0.0	B	0.06405	0.002	T	0.76898	-0.2789	10	0.29301	T	0.29	-17.5817	8.8206	0.35023	0.0:0.2581:0.5259:0.2161	.	604	Q7L014	DDX46_HUMAN	N	604	ENSP00000416534:K604N;ENSP00000346236:K604N	ENSP00000346236:K604N	K	+	3	2	DDX46	134159597	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.505000	0.22642	2.448000	0.82819	0.491000	0.48974	AAG		0.343	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
LECT2	3950	broad.mit.edu	37	5	135276743	135276743	+	Intron	SNP	C	C	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:135276743C>G	ENST00000522943.1	-	3	418				LECT2_ENST00000471827.1_Intron|FBXL21_ENST00000297158.9_RNA|FBXL21_ENST00000467490.1_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.Q230E(1)|p.Q72E(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)			TGACCGTTGTCAAGGCCTTAG	0.358																																					p.Q230E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C688G	5						.						114.0	108.0	110.0					5																	135276743		1849	4103	5952	135304642	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+10168G>C	5.37:g.135276743C>G			135304642	NM_012159	B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000522943.1	37																																																																																					0.358	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1	NM_002302	
SPOCK1	6695	broad.mit.edu	37	5	136315106	136315106	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:136315106G>A	ENST00000394945.1	-	10	1213	c.1044C>T	c.(1042-1044)tgC>tgT	p.C348C	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.C348C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	348	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C348C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCTGCCGTGGCACTGTGTGG	0.537																																					p.C348C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1044T	5						.						127.0	114.0	118.0					5																	136315106		2203	4300	6503	136343005	SO:0001819	synonymous_variant	6695	exon10			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1044C>T	5.37:g.136315106G>A			136343005	NM_004598	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	CCDS4191.1																																																																																				0.537	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	
PKD2L2	27039	broad.mit.edu	37	5	137228279	137228279	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:137228279C>T	ENST00000508883.1	+	3	270	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	PKD2L2_ENST00000350250.4_Missense_Mutation_p.R48C|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R82C|PKD2L2_ENST00000502810.1_Missense_Mutation_p.R82C|PKD2L2_ENST00000508638.1_Missense_Mutation_p.R82C			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	82					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.R82C(1)		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)			TAAGTCCATTCGCAGCATAAC	0.393																																					p.R82C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C244T	5						.						162.0	154.0	157.0					5																	137228279		1885	4119	6004	137256178	SO:0001583	missense	27039	exon3			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.244C>T	5.37:g.137228279C>T	ENSP00000424725:p.Arg82Cys		137256178	NM_014386	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	C	13.30	2.196465	0.38806	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.84	2.91	0.33838	Polycystin cation channel, PKD1/PKD2 (1);	0.643115	0.15906	N	0.238857	T	0.50701	0.1631	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.28400	0.017;0.21;0.055	B;B;B	0.20577	0.022;0.03;0.005	T	0.39603	-0.9606	10	0.44086	T	0.13	-0.1263	1.4429	0.02358	0.2104:0.3961:0.2281:0.1654	.	82;82;82	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	C	48;82;82;82;82	ENSP00000344177:R48C;ENSP00000423382:R82C;ENSP00000425513:R82C;ENSP00000424725:R82C;ENSP00000290431:R82C	ENSP00000290431:R82C	R	+	1	0	PKD2L2	137256178	0.000000	0.05858	1.000000	0.80357	0.935000	0.57460	-0.022000	0.12480	1.478000	0.48253	0.609000	0.83330	CGC		0.393	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386	
PKD2L2	27039	broad.mit.edu	37	5	137230262	137230262	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:137230262A>C	ENST00000508883.1	+	4	514	c.488A>C	c.(487-489)gAa>gCa	p.E163A	PKD2L2_ENST00000350250.4_Missense_Mutation_p.E129A|PKD2L2_ENST00000290431.5_Missense_Mutation_p.E163A|PKD2L2_ENST00000502810.1_Missense_Mutation_p.E163A|PKD2L2_ENST00000508638.1_Missense_Mutation_p.E163A			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	163					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.E163A(1)		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)			TCTGCAAATGAAGACCTCTCT	0.318																																					p.E163A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A488C	5						.						72.0	70.0	71.0					5																	137230262		1833	4080	5913	137258161	SO:0001583	missense	27039	exon4			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.488A>C	5.37:g.137230262A>C	ENSP00000424725:p.Glu163Ala		137258161	NM_014386	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	A	19.06	3.752949	0.69648	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431;ENST00000511176	T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.64402	D	0.000002	D	0.84800	0.5552	M	0.82056	2.57	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.998;0.997	D	0.87043	0.2142	10	0.87932	D	0	-15.4678	15.8143	0.78589	1.0:0.0:0.0:0.0	.	163;163;163	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	A	73;129;163;163;163;163;73	ENSP00000424885:E73A;ENSP00000344177:E129A;ENSP00000423382:E163A;ENSP00000425513:E163A;ENSP00000424725:E163A;ENSP00000290431:E163A;ENSP00000423926:E73A	ENSP00000290431:E163A	E	+	2	0	PKD2L2	137258161	1.000000	0.71417	0.998000	0.56505	0.334000	0.28698	8.609000	0.90898	2.128000	0.65567	0.482000	0.46254	GAA		0.318	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386	
KDM3B	51780	broad.mit.edu	37	5	137717221	137717221	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:137717221C>T	ENST00000314358.5	+	6	922	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	241					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.S241L(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						GAGATCAAGTCGGTAGATCCC	0.398																																					p.S241L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722T	5						.						139.0	121.0	127.0					5																	137717221		2203	4300	6503	137745120	SO:0001583	missense	51780	exon6			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.722C>T	5.37:g.137717221C>T	ENSP00000326563:p.Ser241Leu		137745120	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815523	0.90790	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.61274	0.12	4.99	4.99	0.66335	.	0.348665	0.30704	N	0.009048	T	0.70701	0.3254	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.71391	-0.4607	10	0.49607	T	0.09	-8.0315	18.2316	0.89937	0.0:1.0:0.0:0.0	.	241	Q7LBC6	KDM3B_HUMAN	L	241;31	ENSP00000326563:S241L	ENSP00000326563:S241L	S	+	2	0	KDM3B	137745120	0.999000	0.42202	0.990000	0.47175	0.991000	0.79684	5.017000	0.64047	2.459000	0.83118	0.563000	0.77884	TCG		0.398	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
DNAH5	1767	broad.mit.edu	37	5	13735399	13735399	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:13735399T>C	ENST00000265104.4	-	68	11706	c.11602A>G	c.(11602-11604)Att>Gtt	p.I3868V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3868					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.I3868V(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)					ATATTAGCAATCCTCTTGCTT	0.433									Kartagener syndrome																												p.I3868V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A11602G	5						.						92.0	79.0	84.0					5																	13735399		2203	4300	6503	13788399	SO:0001583	missense	1767	exon68	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.11602A>G	5.37:g.13735399T>C	ENSP00000265104:p.Ile3868Val		13788399	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907648	0.52333	.	.	ENSG00000039139	ENST00000265104	T	0.56941	0.43	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	L	0.45470	1.425	0.58432	D	0.999999	P	0.41188	0.741	B	0.37833	0.259	T	0.44513	-0.9323	10	0.39692	T	0.17	.	12.362	0.55209	0.0:0.0669:0.0:0.9331	.	3868	Q8TE73	DYH5_HUMAN	V	3868	ENSP00000265104:I3868V	ENSP00000265104:I3868V	I	-	1	0	DNAH5	13788399	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.043000	0.64208	2.320000	0.78422	0.528000	0.53228	ATT		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13754320	13754320	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:13754320C>A	ENST00000265104.4	-	62	10651	c.10547G>T	c.(10546-10548)aGa>aTa	p.R3516I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3516					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.R3516I(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)					ACCTACAAGTCTTTTAGTTTG	0.388									Kartagener syndrome																												p.R3516I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10547T	5						.						130.0	133.0	132.0					5																	13754320		2203	4300	6503	13807320	SO:0001583	missense	1767	exon62	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.10547G>T	5.37:g.13754320C>A	ENSP00000265104:p.Arg3516Ile		13807320	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513706	0.64522	.	.	ENSG00000039139	ENST00000265104	T	0.73897	-0.79	5.4	5.4	0.78164	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	H	0.95539	3.685	0.80722	D	1	B	0.28783	0.222	B	0.42593	0.392	D	0.88136	0.2841	10	0.87932	D	0	.	16.5225	0.84321	0.0:0.8694:0.1306:0.0	.	3516	Q8TE73	DYH5_HUMAN	I	3516	ENSP00000265104:R3516I	ENSP00000265104:R3516I	R	-	2	0	DNAH5	13807320	1.000000	0.71417	0.999000	0.59377	0.244000	0.25665	5.945000	0.70226	2.681000	0.91329	0.655000	0.94253	AGA		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13769655	13769655	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:13769655T>G	ENST00000265104.4	-	57	9779	c.9675A>C	c.(9673-9675)gaA>gaC	p.E3225D	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3225	Stalk. {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.E3225D(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)					TTTCTTTCGCTTCCAGTTCTT	0.428									Kartagener syndrome																												p.E3225D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9675C	5						.						267.0	233.0	244.0					5																	13769655		2203	4300	6503	13822655	SO:0001583	missense	1767	exon57	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.9675A>C	5.37:g.13769655T>G	ENSP00000265104:p.Glu3225Asp		13822655	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818154	0.50633	.	.	ENSG00000039139	ENST00000265104	T	0.74209	-0.82	5.77	4.61	0.57282	Dynein heavy chain, coiled coil stalk (1);	0.096199	0.64402	D	0.000001	T	0.69655	0.3135	M	0.67700	2.07	0.42455	D	0.99276	B	0.06786	0.001	B	0.15870	0.014	T	0.64580	-0.6374	10	0.32370	T	0.25	.	9.5228	0.39147	0.0:0.1527:0.0:0.8473	.	3225	Q8TE73	DYH5_HUMAN	D	3225	ENSP00000265104:E3225D	ENSP00000265104:E3225D	E	-	3	2	DNAH5	13822655	1.000000	0.71417	0.939000	0.37840	0.901000	0.52897	1.781000	0.38644	1.132000	0.42129	0.528000	0.53228	GAA		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
REEP2	51308	broad.mit.edu	37	5	137780221	137780221	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:137780221G>T	ENST00000254901.5	+	4	422	c.300G>T	c.(298-300)gaG>gaT	p.E100D	REEP2_ENST00000378339.2_Missense_Mutation_p.E100D|REEP2_ENST00000506158.1_Missense_Mutation_p.E62D	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	100					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.E100D(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAACAAGGAGAAGGTTTGCC	0.612																																					p.E100D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G300T	5						.						135.0	107.0	117.0					5																	137780221		2203	4300	6503	137808120	SO:0001583	missense	51308	exon4			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.300G>T	5.37:g.137780221G>T	ENSP00000254901:p.Glu100Asp		137808120	NM_016606	Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	CCDS4205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.383528|4.383528	0.82792|0.82792	.|.	.|.	ENSG00000132563|ENSG00000132563	ENST00000378339;ENST00000254901;ENST00000506158|ENST00000512126	D;D;D|.	0.91124|.	-2.77;-2.79;-2.01|.	5.13|5.13	3.3|3.3	0.37823|0.37823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72550|0.72550	0.3474|0.3474	M|M	0.83012|0.83012	2.62|2.62	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.73263|0.73263	-0.4038|-0.4038	10|5	0.87932|.	D|.	0|.	-18.9373|-18.9373	8.4309|8.4309	0.32757|0.32757	0.2496:0.0:0.7504:0.0|0.2496:0.0:0.7504:0.0	.|.	100;100|.	A8K3D2;Q9BRK0|.	.;REEP2_HUMAN|.	D|I	100;100;62|138	ENSP00000367590:E100D;ENSP00000254901:E100D;ENSP00000422530:E62D|.	ENSP00000254901:E100D|.	E|R	+|+	3|2	2|0	REEP2|REEP2	137808120|137808120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	1.899000|1.899000	0.39818|0.39818	1.396000|1.396000	0.46663|0.46663	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.612	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606	
DNAH5	1767	broad.mit.edu	37	5	13868056	13868056	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:13868056C>T	ENST00000265104.4	-	25	3984	c.3880G>A	c.(3880-3882)Gaa>Aaa	p.E1294K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1294	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.E1294K(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)					TCTATCTCTTCCCTTGCTATC	0.413									Kartagener syndrome																												p.E1294K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3880A	5						.						110.0	93.0	99.0					5																	13868056		2203	4300	6503	13921056	SO:0001583	missense	1767	exon25	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.3880G>A	5.37:g.13868056C>T	ENSP00000265104:p.Glu1294Lys		13921056	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563484	0.65651	.	.	ENSG00000039139	ENST00000265104	T	0.26373	1.74	5.12	5.12	0.69794	.	0.052448	0.64402	D	0.000001	T	0.51261	0.1664	M	0.91196	3.185	0.80722	D	1	B	0.29232	0.238	B	0.41813	0.367	T	0.59579	-0.7428	10	0.62326	D	0.03	.	18.563	0.91107	0.0:1.0:0.0:0.0	.	1294	Q8TE73	DYH5_HUMAN	K	1294	ENSP00000265104:E1294K	ENSP00000265104:E1294K	E	-	1	0	DNAH5	13921056	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	7.394000	0.79862	2.397000	0.81536	0.655000	0.94253	GAA		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13920594	13920594	+	Missense_Mutation	SNP	C	C	T	rs140576123		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:13920594C>T	ENST00000265104.4	-	6	897	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	265	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.E265K(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)					ATTACCTGTTCTGTCTGTTTG	0.388									Kartagener syndrome				C|||	1	0.000199681	0.0008	0.0	5008	,	,		19703	0.0		0.0	False		,,,				2504	0.0				p.E265K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G793A	5						.	C	LYS/GLU	3,4403		0,3,2200	240.0	210.0	220.0		793	6.2	1.0	5	dbSNP_134	220	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	265/4625	13920594	3,13003	2203	4300	6503	13973594	SO:0001583	missense	1767	exon6	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.793G>A	5.37:g.13920594C>T	ENSP00000265104:p.Glu265Lys		13973594	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050641	0.75960	6.81E-4	0.0	ENSG00000039139	ENST00000265104	T	0.54071	0.59	6.17	6.17	0.99709	Dynein heavy chain, domain-1 (1);	0.149580	0.64402	D	0.000020	T	0.63248	0.2495	M	0.82056	2.57	0.45076	D	0.998094	B	0.27498	0.18	B	0.37387	0.248	T	0.58222	-0.7674	10	0.31617	T	0.26	.	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	265	Q8TE73	DYH5_HUMAN	K	265	ENSP00000265104:E265K	ENSP00000265104:E265K	E	-	1	0	DNAH5	13973594	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.697000	0.68295	2.941000	0.99782	0.655000	0.94253	GAA		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13928247	13928247	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:13928247C>T	ENST00000265104.4	-	3	337	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	78	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.R78Q(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)					CATGAGGTGTCGGAGACCTCC	0.348									Kartagener syndrome																												p.R78Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	5						.						106.0	107.0	106.0					5																	13928247		2203	4300	6503	13981247	SO:0001583	missense	1767	exon3	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.233G>A	5.37:g.13928247C>T	ENSP00000265104:p.Arg78Gln		13981247	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056872	0.55325	.	.	ENSG00000039139	ENST00000265104	T	0.23348	1.91	5.32	5.32	0.75619	.	0.114924	0.64402	D	0.000010	T	0.30479	0.0766	M	0.65975	2.015	0.47737	D	0.999505	B	0.21381	0.055	B	0.14578	0.011	T	0.09773	-1.0659	10	0.19590	T	0.45	.	19.3561	0.94414	0.0:1.0:0.0:0.0	.	78	Q8TE73	DYH5_HUMAN	Q	78	ENSP00000265104:R78Q	ENSP00000265104:R78Q	R	-	2	0	DNAH5	13981247	0.998000	0.40836	0.983000	0.44433	0.972000	0.66771	2.016000	0.40971	2.646000	0.89796	0.655000	0.94253	CGA		0.348	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
SIL1	64374	broad.mit.edu	37	5	138386648	138386648	+	Missense_Mutation	SNP	C	C	T	rs567676273		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:138386648C>T	ENST00000394817.2	-	4	471	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	SIL1_ENST00000265195.5_Missense_Mutation_p.R111Q|SIL1_ENST00000509534.1_Missense_Mutation_p.R118Q|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	111	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)	p.R111Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAATTATTTCGGAACTTGTC	0.438									Marinesco-Sjgren syndrome																												p.R111Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	5						.						181.0	162.0	168.0					5																	138386648		2203	4300	6503	138414547	SO:0001583	missense	64374	exon5	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.332G>A	5.37:g.138386648C>T	ENSP00000378294:p.Arg111Gln		138414547	NM_001037633	D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	0.451	-0.893699	0.02491	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000508639;ENST00000513453;ENST00000507002;ENST00000505830	T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;0.02;0.08;0.05;0.02	5.16	-8.01	0.01122	.	0.818476	0.11475	N	0.560282	T	0.35364	0.0929	N	0.02357	-0.585	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.001	T	0.36359	-0.9751	10	0.12430	T	0.62	3.5012	18.4528	0.90710	0.0:0.1327:0.0:0.8673	.	118;111	D6REA1;Q9H173	.;SIL1_HUMAN	Q	111;111;90;118;111;111;121;121	ENSP00000378294:R111Q;ENSP00000265195:R111Q;ENSP00000426858:R118Q;ENSP00000427371:R111Q;ENSP00000424014:R111Q;ENSP00000421890:R121Q;ENSP00000426460:R121Q	ENSP00000265195:R111Q	R	-	2	0	SIL1	138414547	0.000000	0.05858	0.005000	0.12908	0.193000	0.23685	-1.975000	0.01498	-1.778000	0.01282	-0.781000	0.03364	CGA		0.438	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464	
ANKHD1	54882	broad.mit.edu	37	5	139907896	139907896	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:139907896C>A	ENST00000360839.2	+	29	5519	c.5365C>A	c.(5365-5367)Cat>Aat	p.H1789N	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H1789N|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.H1789N|ANKHD1_ENST00000544120.1_Missense_Mutation_p.H172N	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1789						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.H1789N(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)			CAAATCAATTCATGCTAACTT	0.413																																					p.H1789N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5365A	5						.						135.0	127.0	130.0					5																	139907896		2203	4300	6503	139888080	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.5365C>A	5.37:g.139907896C>A	ENSP00000354085:p.His1789Asn		139888080	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.582|4.582	0.108206|0.108206	0.08780|0.08780	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.64085|.	-0.04;-0.08;2.0;2.0;1.59;-0.08|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.277784|.	0.36409|.	N|.	0.002603|.	T|.	0.51398|.	0.1672|.	N|N	0.25647|0.25647	0.755|0.755	0.34429|0.34429	D|D	0.69835|0.69835	B;P;P;B;B|.	0.43477|.	0.091;0.808;0.675;0.118;0.118|.	B;B;B;B;B|.	0.35510|.	0.031;0.204;0.121;0.037;0.037|.	T|.	0.57207|.	-0.7851|.	10|.	0.12103|.	T|.	0.63|.	.|.	18.6876|18.6876	0.91571|0.91571	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	172;219;1789;1789;1789|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	N|X	1789;1789;1789;445;224;311;172;1789|279;239	ENSP00000354085:H1789N;ENSP00000297183:H1789N;ENSP00000393204:H445N;ENSP00000390034:H311N;ENSP00000437687:H172N;ENSP00000432016:H1789N|.	ENSP00000432016:H1789N|.	H|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888080|139888080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.391000|4.391000	0.59652|0.59652	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.413	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
APBB3	10307	broad.mit.edu	37	5	139941773	139941773	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:139941773T>G	ENST00000357560.4	-	6	981	c.538A>C	c.(538-540)Agc>Cgc	p.S180R	APBB3_ENST00000356738.2_Missense_Mutation_p.S180R|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.S180R|APBB3_ENST00000412920.3_Missense_Mutation_p.S180R|APBB3_ENST00000354402.5_Missense_Mutation_p.S180R|APBB3_ENST00000511201.2_Missense_Mutation_p.S180R|SLC35A4_ENST00000514199.1_5'Flank|SLC35A4_ENST00000323146.3_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	180	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S180R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACTAGGCTCATGGCATCC	0.567																																					p.S180R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A538C	5						.						94.0	84.0	87.0					5																	139941773		2203	4300	6503	139921957	SO:0001583	missense	10307	exon6			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.538A>C	5.37:g.139941773T>G	ENSP00000350171:p.Ser180Arg		139921957	NM_133174	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459707	0.63401	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12	5.66	5.66	0.87406	.	0.047965	0.85682	D	0.000000	T	0.32704	0.0838	L	0.35414	1.06	0.51012	D	0.999905	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.03043	-1.1079	9	.	.	.	-15.1466	11.7658	0.51930	0.0:0.07:0.0:0.93	.	180;180	O95704-2;O95704-3	.;.	R	180	ENSP00000351389:S180R;ENSP00000349177:S180R;ENSP00000346378:S180R;ENSP00000350171:S180R;ENSP00000402591:S180R;ENSP00000424317:S180R	.	S	-	1	0	APBB3	139921957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.897000	0.56273	2.160000	0.67779	0.528000	0.53228	AGC		0.567	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051	
WDR55	54853	broad.mit.edu	37	5	140048358	140048358	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140048358A>C	ENST00000358337.5	+	4	779	c.542A>C	c.(541-543)aAg>aCg	p.K181T		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	181					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.K181T(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCAAAAAGCTGCTGCTG	0.532																																					p.K181T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A542C	5						.						48.0	46.0	47.0					5																	140048358		2203	4300	6503	140028542	SO:0001583	missense	54853	exon4			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.542A>C	5.37:g.140048358A>C	ENSP00000351100:p.Lys181Thr		140028542	NM_017706	Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.502839	0.64298	.	.	ENSG00000120314	ENST00000358337	T	0.29655	1.56	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.379473	0.08080	U	1.000000	T	0.42675	0.1213	L	0.45352	1.415	0.43114	D	0.994829	P;P	0.46987	0.753;0.888	B;P	0.52598	0.406;0.703	T	0.02320	-1.1177	10	0.35671	T	0.21	-7.2624	14.1224	0.65198	1.0:0.0:0.0:0.0	.	20;181	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	T	181	ENSP00000351100:K181T	ENSP00000351100:K181T	K	+	2	0	WDR55	140028542	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.464000	0.60134	1.974000	0.57490	0.383000	0.25322	AAG		0.532	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706	
HARS2	23438	broad.mit.edu	37	5	140076627	140076627	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140076627A>G	ENST00000230771.3	+	9	1149	c.926A>G	c.(925-927)tAc>tGc	p.Y309C	HARS2_ENST00000448069.2_Missense_Mutation_p.Y137C|HARS2_ENST00000432671.2_Missense_Mutation_p.Y195C|HARS2_ENST00000437649.2_Missense_Mutation_p.Y235C|HARS2_ENST00000435019.2_Missense_Mutation_p.Y269C|HARS2_ENST00000508522.1_Missense_Mutation_p.Y284C	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	309					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)	p.Y309C(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTTGAATACCTGACTTTA	0.502																																					p.Y309C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A926G	5						.						127.0	140.0	135.0					5																	140076627		2203	4300	6503	140056811	SO:0001583	missense	23438	exon9			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.926A>G	5.37:g.140076627A>G	ENSP00000230771:p.Tyr309Cys		140056811	NM_012208	B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	a	18.62	3.663075	0.67700	.	.	ENSG00000112855	ENST00000230771;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069;ENST00000427675	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.78	5.78	0.91487	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	M	0.89214	3.015	0.80722	D	1	P;B;P;P;P	0.45011	0.496;0.395;0.569;0.738;0.848	B;B;P;B;B	0.46479	0.33;0.366;0.518;0.33;0.275	T	0.82916	-0.0220	10	0.87932	D	0	-1.3451	16.1205	0.81351	1.0:0.0:0.0:0.0	.	162;137;235;284;309	E9PD60;B4DQ67;E9PG66;B4DDY8;P49590	.;.;.;.;SYHM_HUMAN	C	309;269;235;195;284;137;148	ENSP00000230771:Y309C;ENSP00000412887:Y269C;ENSP00000411708:Y235C;ENSP00000415007:Y195C;ENSP00000423616:Y284C;ENSP00000407105:Y137C	ENSP00000230771:Y309C	Y	+	2	0	HARS2	140056811	1.000000	0.71417	0.979000	0.43373	0.980000	0.70556	8.905000	0.92613	2.205000	0.71048	0.533000	0.62120	TAC		0.502	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208	
ZMAT2	153527	broad.mit.edu	37	5	140085212	140085212	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140085212A>C	ENST00000274712.3	+	6	598	c.471A>C	c.(469-471)aaA>aaC	p.K157N		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	157						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K157N(1)		breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aaaaggccaaagcgtacaaga	0.463																																					p.K157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A471C	5						.						110.0	97.0	102.0					5																	140085212		2203	4300	6503	140065396	SO:0001583	missense	153527	exon6			AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.471A>C	5.37:g.140085212A>C	ENSP00000274712:p.Lys157Asn		140065396	NM_144723		Missense_Mutation	SNP	ENST00000274712.3	37	CCDS4239.1	.	.	.	.	.	.	.	.	.	.	a	16.94	3.260108	0.59321	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.61	3.21	0.36854	.	0.199752	0.52532	D	0.000067	T	0.74306	0.3699	M	0.86028	2.79	0.80722	D	1	B	0.30482	0.281	B	0.42361	0.385	T	0.75950	-0.3137	9	0.66056	D	0.02	-15.5539	9.9435	0.41593	0.8616:0.0:0.1384:0.0	.	157	Q96NC0	ZMAT2_HUMAN	N	157	.	ENSP00000274712:K157N	K	+	3	2	ZMAT2	140065396	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.984000	0.56923	1.058000	0.40530	0.529000	0.55759	AAA		0.463	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723	
PCDHA1	56147	broad.mit.edu	37	5	140166467	140166467	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140166467A>C	ENST00000504120.2	+	1	592	c.592A>C	c.(592-594)Aaa>Caa	p.K198Q	PCDHA1_ENST00000394633.3_Missense_Mutation_p.K198Q|PCDHA1_ENST00000378133.3_Missense_Mutation_p.K198Q	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	198	Cadherin 2. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K198Q(2)		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)			TGAATTGAGAAAATATTTGGA	0.438																																					p.K198Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A592C	5						.						71.0	78.0	76.0					5																	140166467		2203	4300	6503	140146651	SO:0001583	missense	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.592A>C	5.37:g.140166467A>C	ENSP00000420840:p.Lys198Gln		140146651	NM_031410	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	a	15.50	2.852743	0.51270	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.56275	0.47;0.47;0.47	4.13	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	U	0.000330	T	0.71753	0.3377	M	0.85373	2.75	0.09310	N	1	D;D;D	0.64830	0.989;0.994;0.962	D;P;P	0.71414	0.973;0.905;0.754	T	0.64377	-0.6422	10	0.59425	D	0.04	.	10.5306	0.44975	0.8249:0.1751:0.0:0.0	.	198;198;198	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Q	198	ENSP00000420840:K198Q;ENSP00000378129:K198Q;ENSP00000367373:K198Q	ENSP00000367373:K198Q	K	+	1	0	PCDHA1	140146651	0.001000	0.12720	0.080000	0.20451	0.959000	0.62525	1.848000	0.39309	1.644000	0.50603	0.528000	0.53228	AAA		0.438	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA2	56146	broad.mit.edu	37	5	140174850	140174850	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140174850G>A	ENST00000526136.1	+	1	301	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PCDHA2_ENST00000520672.2_Missense_Mutation_p.E101K|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E101K	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	101	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.E101K(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGCGCGGAATGTAGCAT	0.542																																					p.E101K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G301A	5						.						109.0	124.0	119.0					5																	140174850		2203	4300	6503	140155034	SO:0001583	missense	56146	exon1			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.301G>A	5.37:g.140174850G>A	ENSP00000431748:p.Glu101Lys		140155034	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	6.185	0.402393	0.11696	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.26518	1.73;1.73;1.73	3.98	3.98	0.46160	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.429624	0.16652	U	0.205171	T	0.16428	0.0395	N	0.25485	0.75	0.09310	N	1	B;B;B	0.18968	0.026;0.032;0.026	B;B;B	0.28709	0.064;0.022;0.093	T	0.09487	-1.0672	10	0.36615	T	0.2	.	3.6877	0.08334	0.2319:0.2169:0.5511:0.0	.	101;101;101	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	101	ENSP00000430584:E101K;ENSP00000367372:E101K;ENSP00000431748:E101K	ENSP00000367372:E101K	E	+	1	0	PCDHA2	140155034	0.000000	0.05858	1.000000	0.80357	0.546000	0.35178	0.156000	0.16382	2.234000	0.73211	0.644000	0.83932	GAA		0.542	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA4	56144	broad.mit.edu	37	5	140188840	140188840	+	Missense_Mutation	SNP	G	G	A	rs150467607		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140188840G>A	ENST00000530339.1	+	1	2068	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D690N|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D690N|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	690					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.D690N(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)			TGTGGGTCCCGATGCTGCGCT	0.647																																					p.D690N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2068A	5						.	G	,,,ASN/ASP,,ASN/ASP	0,4406		0,0,2203	65.0	59.0	61.0		,,,2068,,2068	3.1	0.0	5	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense,intron,missense	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,23,,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	,,,690/948,,690/799	140188840	1,13005	2203	4300	6503	140169024	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.2068G>A	5.37:g.140188840G>A	ENSP00000435300:p.Asp690Asn		140169024	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	12.24	1.879559	0.33162	0.0	1.16E-4	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51574	0.75;0.7;0.72	3.93	3.06	0.35304	.	1.231350	0.06404	U	0.719310	T	0.39306	0.1073	L	0.44542	1.39	0.09310	N	1	P;B;B	0.35011	0.48;0.348;0.03	B;B;B	0.32090	0.14;0.067;0.004	T	0.29458	-1.0011	10	0.41790	T	0.15	.	6.803	0.23762	0.0989:0.0:0.7276:0.1734	.	690;690;690	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	N	690	ENSP00000423470:D690N;ENSP00000349344:D690N;ENSP00000435300:D690N	ENSP00000349344:D690N	D	+	1	0	PCDHA4	140169024	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.161000	0.16481	0.790000	0.33803	0.484000	0.47621	GAT		0.647	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA5	56143	broad.mit.edu	37	5	140202018	140202018	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140202018G>A	ENST00000529859.1	+	1	658	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E220K|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E220K	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	220	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.E220K(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAAACCCGAACTAACAGG	0.358																																					p.E220K												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.G658A	5						.						98.0	104.0	102.0					5																	140202018		2203	4300	6503	140182202	SO:0001583	missense	56143	exon1			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.658G>A	5.37:g.140202018G>A	ENSP00000436557:p.Glu220Lys		140182202	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413802	0.42817	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.51325	0.71;0.71;0.71	4.02	4.02	0.46733	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51941	0.1704	M	0.64567	1.98	0.09310	N	1	P;P;P	0.44627	0.827;0.839;0.839	P;B;B	0.48704	0.587;0.241;0.175	T	0.47394	-0.9121	9	0.66056	D	0.02	.	7.8112	0.29232	0.0898:0.164:0.7462:0.0	.	220;220;220	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	K	220	ENSP00000433416:E220K;ENSP00000436557:E220K;ENSP00000367366:E220K	ENSP00000367366:E220K	E	+	1	0	PCDHA5	140182202	0.000000	0.05858	1.000000	0.80357	0.960000	0.62799	0.341000	0.19909	1.946000	0.56461	0.591000	0.81541	GAA		0.358	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
PCDHA9	9752	broad.mit.edu	37	5	140229827	140229827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140229827C>T	ENST00000532602.1	+	1	2780	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R583W|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	583					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R583W(2)|p.R583K(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTGCTGCGGTCGGTGGG	0.667																																					p.R583W	Melanoma(55;1800 1972 14909)											.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C1747T	5						.						52.0	58.0	56.0					5																	140229827		2196	4268	6464	140210011	SO:0001583	missense	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1747C>T	5.37:g.140229827C>T	ENSP00000436042:p.Arg583Trp		140210011	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	7.634	0.679490	0.14907	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.20598	2.06;2.06	3.63	0.526	0.17078	Cadherin (1);Cadherin-like (1);	0.356243	0.15743	U	0.246805	T	0.21674	0.0522	M	0.80847	2.515	0.09310	N	1	P;B	0.35011	0.48;0.108	B;B	0.36418	0.224;0.014	T	0.19128	-1.0315	10	0.42905	T	0.14	.	1.9609	0.03386	0.3357:0.3795:0.1774:0.1073	.	583;583	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	W	583	ENSP00000436042:R583W;ENSP00000367362:R583W	ENSP00000367362:R583W	R	+	1	2	PCDHA9	140210011	0.000000	0.05858	0.003000	0.11579	0.517000	0.34286	-0.672000	0.05244	-0.037000	0.13646	0.313000	0.20887	CGG		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA10	56139	broad.mit.edu	37	5	140236189	140236189	+	Missense_Mutation	SNP	G	G	T	rs200468399		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140236189G>T	ENST00000307360.5	+	1	556	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D186Y|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	186	Cadherin 2. {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.D186Y(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)			AAACAAAAAAGACAAAGACAA	0.413																																					p.D186Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G556T	5						.						75.0	80.0	79.0					5																	140236189		2195	4266	6461	140216373	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.556G>T	5.37:g.140236189G>T	ENSP00000304234:p.Asp186Tyr		140216373	NM_031860	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792589	0.16258	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.19938	2.11;2.11	4.45	3.57	0.40892	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.36166	0.0957	M	0.82630	2.6	0.09310	N	1	B;B;P	0.47604	0.201;0.011;0.898	B;B;P	0.49799	0.368;0.036;0.622	T	0.22487	-1.0215	9	0.87932	D	0	.	8.5431	0.33404	0.0822:0.1534:0.7644:0.0	.	186;186;186	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	Y	186	ENSP00000421030:D186Y;ENSP00000304234:D186Y	ENSP00000304234:D186Y	D	+	1	0	PCDHA10	140216373	0.309000	0.24518	0.125000	0.21846	0.718000	0.41266	3.281000	0.51685	1.213000	0.43380	0.561000	0.74099	GAC		0.413	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHAC1	56135	broad.mit.edu	37	5	140307679	140307679	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140307679G>A	ENST00000253807.2	+	1	1202	c.1202G>A	c.(1201-1203)gGg>gAg	p.G401E	PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G401E|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	401	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.G401E(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATTGATGGGCCCCTGGAC	0.532																																					p.G401E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1202A	5						.						79.0	78.0	78.0					5																	140307679		2203	4300	6503	140287863	SO:0001583	missense	56135	exon1			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1202G>A	5.37:g.140307679G>A	ENSP00000253807:p.Gly401Glu		140287863	NM_031882	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	8.313	0.822572	0.16678	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01745	4.66;4.66	5.81	4.94	0.65067	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01661	0.0053	N	0.26042	0.785	0.09310	N	1	P;B	0.43024	0.798;0.336	B;B	0.42422	0.387;0.07	T	0.21586	-1.0241	9	0.05620	T	0.96	.	9.8944	0.41309	0.2115:0.0:0.7885:0.0	.	401;401	Q9H158;Q9H158-2	PCDC1_HUMAN;.	E	401	ENSP00000386356:G401E;ENSP00000253807:G401E	ENSP00000253807:G401E	G	+	2	0	PCDHAC1	140287863	0.334000	0.24739	0.184000	0.23157	0.980000	0.70556	0.898000	0.28404	1.454000	0.47793	0.462000	0.41574	GGG		0.532	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHB1	29930	broad.mit.edu	37	5	140432458	140432458	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140432458C>T	ENST00000306549.3	+	1	1480	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	468	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.A468V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGTCCTGCGGTTTTTATT	0.408																																					p.A468V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1403T	5						.						69.0	68.0	68.0					5																	140432458		2203	4300	6503	140412642	SO:0001583	missense	29930	exon1			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1403C>T	5.37:g.140432458C>T	ENSP00000307234:p.Ala468Val		140412642	NM_013340	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597916	0.66332	.	.	ENSG00000171815	ENST00000306549	T	0.61158	0.13	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.000000	0.44483	D	0.000457	T	0.74107	0.3673	M	0.81239	2.535	0.45718	D	0.998622	D	0.76494	0.999	D	0.65573	0.936	T	0.76772	-0.2836	10	0.87932	D	0	.	10.9003	0.47047	0.1278:0.6978:0.1745:0.0	.	468	Q9Y5F3	PCDB1_HUMAN	V	468	ENSP00000307234:A468V	ENSP00000307234:A468V	A	+	2	0	PCDHB1	140412642	0.349000	0.24870	0.968000	0.41197	0.909000	0.53808	0.684000	0.25364	2.941000	0.99782	0.655000	0.94253	GCG		0.408	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHB3	56132	broad.mit.edu	37	5	140481427	140481427	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140481427G>T	ENST00000231130.2	+	1	1194	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E398D(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)			CATCTGTAGAGAATTTTTACA	0.478																																					p.E398D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1194T	5						.						79.0	79.0	79.0					5																	140481427		2203	4300	6503	140461611	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.1194G>T	5.37:g.140481427G>T	ENSP00000231130:p.Glu398Asp		140461611	NM_018937	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	6.155	0.396724	0.11638	.	.	ENSG00000113205	ENST00000231130	T	0.51817	0.69	4.73	-1.48	0.08745	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28896	0.0717	L	0.37750	1.13	0.09310	N	0.999999	B	0.18013	0.025	B	0.24006	0.05	T	0.27806	-1.0063	9	0.13853	T	0.58	.	2.2168	0.03962	0.4392:0.2376:0.2127:0.1105	.	398	Q9Y5E6	PCDB3_HUMAN	D	398	ENSP00000231130:E398D	ENSP00000231130:E398D	E	+	3	2	PCDHB3	140461611	0.000000	0.05858	0.073000	0.20177	0.569000	0.35902	-1.184000	0.03076	-0.309000	0.08779	-0.165000	0.13383	GAG		0.478	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB4	56131	broad.mit.edu	37	5	140502496	140502496	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140502496T>A	ENST00000194152.1	+	1	916	c.916T>A	c.(916-918)Ttg>Atg	p.L306M	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	306	Cadherin 3. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L306M(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAAAAAAATTGGATTTCGA	0.373																																					p.L306M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T916A	5						.						95.0	112.0	106.0					5																	140502496		2201	4300	6501	140482680	SO:0001583	missense	56131	exon1			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.916T>A	5.37:g.140502496T>A	ENSP00000194152:p.Leu306Met		140482680	NM_018938	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913151	0.33815	.	.	ENSG00000081818	ENST00000194152	T	0.74842	-0.88	4.41	-0.985	0.10256	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85725	0.5763	M	0.93854	3.465	0.22017	N	0.999411	D	0.89917	1.0	D	0.91635	0.999	T	0.72187	-0.4366	9	0.66056	D	0.02	.	2.9602	0.05890	0.1209:0.3848:0.1239:0.3705	.	306	Q9Y5E5	PCDB4_HUMAN	M	306	ENSP00000194152:L306M	ENSP00000194152:L306M	L	+	1	2	PCDHB4	140482680	0.000000	0.05858	0.691000	0.30163	0.889000	0.51656	-2.344000	0.01098	0.037000	0.15575	0.528000	0.53228	TTG		0.373	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHB4	56131	broad.mit.edu	37	5	140503701	140503701	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140503701C>T	ENST00000194152.1	+	1	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	707					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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F707F(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.701																																					p.F707F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2121T	5						.						67.0	81.0	76.0					5																	140503701		2168	4213	6381	140483885	SO:0001819	synonymous_variant	56131	exon1			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2121C>T	5.37:g.140503701C>T			140483885	NM_018938	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																				0.701	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHB5	26167	broad.mit.edu	37	5	140515167	140515167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140515167G>T	ENST00000231134.5	+	1	368	c.151G>T	c.(151-153)Gac>Tac	p.D51Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	51	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.D51Y(2)		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)			CCTGGCAAAAGACCTGGGTCT	0.498																																					p.D51Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G151T	5						.						65.0	70.0	68.0					5																	140515167		2203	4300	6503	140495351	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.151G>T	5.37:g.140515167G>T	ENSP00000231134:p.Asp51Tyr		140495351	NM_015669	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800653	0.70567	.	.	ENSG00000113209	ENST00000231134	T	0.34667	1.35	5.37	5.37	0.77165	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	T	0.75027	0.3794	H	0.97240	3.965	0.51012	D	0.999906	D	0.89917	1.0	D	0.77557	0.99	D	0.84440	0.0582	9	0.87932	D	0	.	19.0701	0.93130	0.0:0.0:1.0:0.0	.	51	Q9Y5E4	PCDB5_HUMAN	Y	51	ENSP00000231134:D51Y	ENSP00000231134:D51Y	D	+	1	0	PCDHB5	140495351	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.441000	0.80485	2.683000	0.91414	0.555000	0.69702	GAC		0.498	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB6	56130	broad.mit.edu	37	5	140531209	140531209	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140531209C>T	ENST00000231136.1	+	1	1371	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	PCDHB6_ENST00000543635.1_Silent_p.F321F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	457	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.F457F(1)		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)			ACACCCTGTTCGTCCGCGAGA	0.612																																					p.F457F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1371T	5						.						79.0	88.0	85.0					5																	140531209		2203	4297	6500	140511393	SO:0001819	synonymous_variant	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.1371C>T	5.37:g.140531209C>T			140511393	NM_018939	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																				0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB8	56128	broad.mit.edu	37	5	140558765	140558765	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140558765T>C	ENST00000239444.2	+	1	1395	c.1150T>C	c.(1150-1152)Tgc>Cgc	p.C384R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	384	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.C384R(1)		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)			GAAAATAAGTTGCTCCATTCA	0.458																																					p.C384R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1150C	5						.						137.0	183.0	167.0					5																	140558765		2203	4300	6503	140538949	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.1150T>C	5.37:g.140558765T>C	ENSP00000239444:p.Cys384Arg		140538949	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681764	0.29872	.	.	ENSG00000120322	ENST00000239444	T	0.01705	4.68	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21307	0.0513	H	0.99545	4.62	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.47420	-0.9119	9	0.87932	D	0	.	13.0458	0.58925	0.0:0.0:0.0:1.0	.	384	Q9UN66	PCDB8_HUMAN	R	384	ENSP00000239444:C384R	ENSP00000239444:C384R	C	+	1	0	PCDHB8	140538949	0.996000	0.38824	0.039000	0.18376	0.016000	0.09150	3.433000	0.52834	1.558000	0.49541	0.477000	0.44152	TGC		0.458	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHB8	56128	broad.mit.edu	37	5	140559199	140559199	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140559199C>T	ENST00000239444.2	+	1	1829	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	528	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.F528F(1)		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)			TGCAGGCGTTCGAGTTCCGGG	0.677																																					p.F528F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1584T	5						.						89.0	147.0	127.0					5																	140559199		2203	4300	6503	140539383	SO:0001819	synonymous_variant	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.1584C>T	5.37:g.140559199C>T			140539383	NM_019120	B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																				0.677	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHB16	57717	broad.mit.edu	37	5	140568473	140568473	+	IGR	SNP	G	G	A	rs368671656		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140568473G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTCGACTTCCGCGT	0.672																																					p.S527S												.	.	0			c.G1581A	5						.						74.0	86.0	82.0					5																	140568473		2203	4300	6503	140548657	SO:0001628	intergenic_variant	56127	exon1			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568473G>A			140548657	NM_019119	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.672	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB10	56126	broad.mit.edu	37	5	140573637	140573637	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140573637C>A	ENST00000239446.4	+	1	1696	c.1512C>A	c.(1510-1512)gtC>gtA	p.V504V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	504	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.V504V(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)			CCTCCCTGGTCTCCATCAACG	0.687																																					p.V504V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1512A	5						.						98.0	113.0	108.0					5																	140573637		2203	4299	6502	140553821	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.1512C>A	5.37:g.140573637C>A			140553821	NM_018930	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																				0.687	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB10	56126	broad.mit.edu	37	5	140573759	140573759	+	Missense_Mutation	SNP	C	C	T	rs17844584	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140573759C>T	ENST00000239446.4	+	1	1818	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	545	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.A545V(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)			AGCAGAGAGGCGCTGGTGCGC	0.706													C|||	27	0.00539137	0.0204	0.0	5008	,	,		16480	0.0		0.0	False		,,,				2504	0.0				p.A545V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1634T	5						.	C	VAL/ALA	66,4300		0,66,2117	34.0	48.0	43.0		1634	3.5	1.0	5	dbSNP_123	43	0,8560		0,0,4280	no	missense	PCDHB10	NM_018930.3	64	0,66,6397	TT,TC,CC		0.0,1.5117,0.5106	benign	545/801	140573759	66,12860	2183	4280	6463	140553943	SO:0001583	missense	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.1634C>T	5.37:g.140573759C>T	ENSP00000239446:p.Ala545Val		140553943	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	14.35	2.508907	0.44660	0.015117	0.0	ENSG00000120324	ENST00000239446	T	0.01787	4.64	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00875	0.0029	N	0.16266	0.395	0.09310	N	1	D	0.54047	0.964	P	0.48921	0.595	T	0.53136	-0.8481	9	0.14252	T	0.57	.	7.8479	0.29437	0.0:0.8331:0.0:0.1669	rs17844584	545	Q9UN67	PCDBA_HUMAN	V	545	ENSP00000239446:A545V	ENSP00000239446:A545V	A	+	2	0	PCDHB10	140553943	0.000000	0.05858	0.998000	0.56505	0.980000	0.70556	-0.423000	0.07034	1.994000	0.58287	0.549000	0.68633	GCG		0.706	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHGA1	56114	broad.mit.edu	37	5	140711178	140711178	+	Silent	SNP	C	C	T	rs148638556		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140711178C>T	ENST00000517417.1	+	1	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGA1_ENST00000378105.3_Silent_p.F309F|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	309	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.F309F(3)		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)			CACTAGATTTCGAAGAATACA	0.373																																					p.F309F												.	.	3	Substitution - coding silent(3)	prostate(2)|large_intestine(1)	c.C927T	5						.	C	,	2,4404	4.2+/-10.8	0,2,2201	56.0	57.0	57.0		927,927	-5.8	0.9	5	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCDHGA1	NM_018912.2,NM_031993.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	309/932,309/824	140711178	2,13004	2203	4300	6503	140691362	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.927C>T	5.37:g.140711178C>T			140691362	NM_031993	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.373	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA2	56113	broad.mit.edu	37	5	140719008	140719008	+	Missense_Mutation	SNP	C	C	T	rs374678605		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140719008C>T	ENST00000394576.2	+	1	470	c.470C>T	c.(469-471)gCg>gTg	p.A157V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	157	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.A157V(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)			CTTAAGAATGCGCATGATGCA	0.498																																					p.A157V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C470T	5						.						81.0	80.0	80.0					5																	140719008		2203	4300	6503	140699192	SO:0001583	missense	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.470C>T	5.37:g.140719008C>T	ENSP00000378077:p.Ala157Val		140699192	NM_032009	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.253713	0.80135	.	.	ENSG00000081853	ENST00000394576	T	0.59364	0.27	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	U	0.000957	T	0.70316	0.3210	M	0.78049	2.395	0.41683	D	0.989307	B;D	0.54964	0.154;0.969	B;P	0.51297	0.416;0.665	T	0.75622	-0.3254	10	0.62326	D	0.03	.	18.6002	0.91246	0.0:1.0:0.0:0.0	.	157;157	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	157	ENSP00000378077:A157V	ENSP00000378077:A157V	A	+	2	0	PCDHGA2	140699192	1.000000	0.71417	0.996000	0.52242	0.541000	0.35023	5.959000	0.70339	2.569000	0.86673	0.655000	0.94253	GCG		0.498	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGB1	56104	broad.mit.edu	37	5	140730438	140730438	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140730438C>A	ENST00000523390.1	+	1	611	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_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	204	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.S204Y(1)		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)			CATCAGAGCTCTCATCGCTTA	0.498																																					p.S204Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611A	5						.						78.0	76.0	77.0					5																	140730438		1887	4116	6003	140710622	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.611C>A	5.37:g.140730438C>A	ENSP00000429273:p.Ser204Tyr		140710622	NM_018922	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.218657	0.00286	.	.	ENSG00000254221	ENST00000523390	T	0.54279	0.58	5.18	1.29	0.21616	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41858	0.1177	M	0.69185	2.1	0.09310	N	1	B;B	0.20459	0.044;0.045	B;B	0.26614	0.047;0.071	T	0.42137	-0.9469	9	0.02654	T	1	.	4.292	0.10883	0.2787:0.5038:0.0:0.2175	.	204;204	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	Y	204	ENSP00000429273:S204Y	ENSP00000429273:S204Y	S	+	2	0	PCDHGB1	140710622	0.000000	0.05858	0.165000	0.22776	0.648000	0.38561	-1.990000	0.01479	0.264000	0.21851	-0.309000	0.09137	TCT		0.498	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGB1	56104	broad.mit.edu	37	5	140731400	140731400	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140731400G>A	ENST00000523390.1	+	1	1573	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_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	525	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.E525K(1)		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)			GCGCGCCTTCGAGCTCACACT	0.697																																					p.E525K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1573A	5						.						40.0	48.0	45.0					5																	140731400		2074	4204	6278	140711584	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.1573G>A	5.37:g.140731400G>A	ENSP00000429273:p.Glu525Lys		140711584	NM_018922	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.290938	0.40494	.	.	ENSG00000254221	ENST00000523390	T	0.54071	0.59	5.49	-1.99	0.07457	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.47637	0.1456	L	0.39633	1.23	0.18873	N	0.999983	P;P	0.46277	0.836;0.875	B;P	0.45971	0.261;0.499	T	0.47058	-0.9146	9	0.33940	T	0.23	.	14.9534	0.71091	0.0604:0.7213:0.1408:0.0776	.	525;525	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	525	ENSP00000429273:E525K	ENSP00000429273:E525K	E	+	1	0	PCDHGB1	140711584	0.000000	0.05858	0.937000	0.37676	0.570000	0.35934	-6.932000	0.00049	-0.640000	0.05495	-0.300000	0.09419	GAG		0.697	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGB2	56103	broad.mit.edu	37	5	140740267	140740267	+	Missense_Mutation	SNP	C	C	T	rs532971055		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140740267C>T	ENST00000522605.1	+	1	565	c.565C>T	c.(565-567)Cgt>Tgt	p.R189C	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	189	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.R189C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGATGGTCGTAAATATCC	0.463													.|||	1	0.000199681	0.0	0.0	5008	,	,		20269	0.001		0.0	False		,,,				2504	0.0				p.R189C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C565T	5						.						84.0	82.0	83.0					5																	140740267		1917	4134	6051	140720451	SO:0001583	missense	56103	exon1			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.565C>T	5.37:g.140740267C>T	ENSP00000429018:p.Arg189Cys		140720451	NM_018923	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	8.945	0.966869	0.18659	.	.	ENSG00000253910	ENST00000522605	T	0.21361	2.01	5.54	2.32	0.28847	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37865	0.1019	M	0.80847	2.515	0.09310	N	1	D;D	0.61697	0.958;0.99	P;P	0.59595	0.594;0.86	T	0.17653	-1.0362	9	0.66056	D	0.02	.	3.9266	0.09267	0.462:0.3441:0.1125:0.0814	.	189;189	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	C	189	ENSP00000429018:R189C	ENSP00000429018:R189C	R	+	1	0	PCDHGB2	140720451	0.000000	0.05858	0.049000	0.19019	0.063000	0.16089	-0.609000	0.05635	0.801000	0.34066	-0.182000	0.12963	CGT		0.463	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
PCDHGA5	56110	broad.mit.edu	37	5	140744933	140744933	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140744933G>A	ENST00000518069.1	+	1	1036	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_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	346	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.E346K(1)		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)			CAATGCCCCCGAAGTGATCCT	0.512																																					p.E346K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036A	5						.						100.0	103.0	102.0					5																	140744933		2098	4246	6344	140725117	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.1036G>A	5.37:g.140744933G>A	ENSP00000429834:p.Glu346Lys		140725117	NM_032054	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	16.04	3.010101	0.54361	.	.	ENSG00000253485	ENST00000518069	T	0.38401	1.14	5.52	4.66	0.58398	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.53498	0.1800	L	0.47078	1.49	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.47420	-0.9119	9	0.62326	D	0.03	.	14.3276	0.66530	0.0722:0.0:0.9278:0.0	.	346;346	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	K	346	ENSP00000429834:E346K	ENSP00000429834:E346K	E	+	1	0	PCDHGA5	140725117	0.018000	0.18449	0.814000	0.32528	0.971000	0.66376	1.454000	0.35178	1.478000	0.48253	-0.253000	0.11424	GAA		0.512	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDHGA7	56108	broad.mit.edu	37	5	140763530	140763530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140763530C>A	ENST00000518325.1	+	1	1064	c.1064C>A	c.(1063-1065)tCa>tAa	p.S355*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	355	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.S355*(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)			TTAAGTAGCTCAATCCCTGAA	0.428																																					p.S355X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1064A	5						.						67.0	67.0	67.0					5																	140763530		1990	4192	6182	140743714	SO:0001587	stop_gained	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.1064C>A	5.37:g.140763530C>A	ENSP00000430024:p.Ser355*		140743714	NM_032087	B2RN87|Q9Y5D0	Nonsense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532245	0.45073	.	.	ENSG00000253537	ENST00000518325	.	.	.	5.3	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	7.0807	0.25229	0.1369:0.7052:0.0:0.1579	.	.	.	.	X	355	.	ENSP00000430024:S355X	S	+	2	0	PCDHGA7	140743714	0.000000	0.05858	0.149000	0.22428	0.243000	0.25628	0.293000	0.19029	0.676000	0.31285	0.655000	0.94253	TCA		0.428	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
PCDHGA10	56106	broad.mit.edu	37	5	140795167	140795167	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140795167C>T	ENST00000398610.2	+	1	2425	c.2425C>T	c.(2425-2427)Cca>Tca	p.P809S	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	809					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGATACCCCATTGGTTCC	0.378																																					p.P809S												.	.	0			c.C2425T	5						.						55.0	58.0	57.0					5																	140795167		2179	4292	6471	140775351	SO:0001583	missense	56106	exon1				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2425C>T	5.37:g.140795167C>T	ENSP00000381611:p.Pro809Ser		140775351	NM_032090	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	1.103	-0.660525	0.03454	.	.	ENSG00000253846	ENST00000398610	D	0.94497	-3.44	5.42	3.5	0.40072	.	.	.	.	.	D	0.87569	0.6210	N	0.24115	0.695	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.002	T	0.69254	-0.5193	9	0.02654	T	1	.	12.2522	0.54605	0.1068:0.7174:0.1757:0.0	.	809;809	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	S	809	ENSP00000381611:P809S	ENSP00000381611:P809S	P	+	1	0	PCDHGA10	140775351	0.001000	0.12720	0.797000	0.32132	0.930000	0.56654	0.422000	0.21296	1.267000	0.44247	0.655000	0.94253	CCA		0.378	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
PCDHGC4	56098	broad.mit.edu	37	5	140865191	140865191	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:140865191C>T	ENST00000306593.1	+	1	451	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_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	151	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.R151C(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)			TCCAGGACAGCGTTTCCCGTT	0.537																																					p.R151C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C451T	5						.						63.0	65.0	64.0					5																	140865191		2203	4300	6503	140845375	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.451C>T	5.37:g.140865191C>T	ENSP00000306918:p.Arg151Cys		140845375	NM_032406	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791663	0.90367	.	.	ENSG00000242419	ENST00000306593	T	0.53640	0.61	5.0	5.0	0.66597	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.78304	0.4262	H	0.94620	3.56	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.84887	0.0834	9	0.87932	D	0	.	18.4946	0.90860	0.0:1.0:0.0:0.0	.	151;151	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	C	151	ENSP00000306918:R151C	ENSP00000306918:R151C	R	+	1	0	PCDHGC4	140845375	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.929000	0.56514	2.596000	0.87737	0.561000	0.74099	CGT		0.537	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
KIAA0141	9812	broad.mit.edu	37	5	141313816	141313816	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:141313816T>G	ENST00000432126.2	+	9	1043	c.909T>G	c.(907-909)taT>taG	p.Y303*	KIAA0141_ENST00000194118.4_Nonsense_Mutation_p.Y303*	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	303					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)		p.Y303*(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCCTTTATTATCAGTTGG	0.507																																					p.Y303X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T909G	5						.						32.0	34.0	33.0					5																	141313816		2203	4300	6503	141294000	SO:0001587	stop_gained	9812	exon9			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.909T>G	5.37:g.141313816T>G	ENSP00000396225:p.Tyr303*		141294000	NM_001142603	Q969R4|Q96EU9	Nonsense_Mutation	SNP	ENST00000432126.2	37	CCDS4268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.42|15.42	2.827578|2.827578	0.50845|0.50845	.|.	.|.	ENSG00000081791|ENSG00000081791	ENST00000507481|ENST00000432126;ENST00000194118	.|.	.|.	.|.	5.72|5.72	3.38|3.38	0.38709|0.38709	.|.	.|0.866516	.|0.10697	.|N	.|0.644531	T|.	0.16938|.	0.0407|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29792|.	-1.0000|.	3|.	.|0.02654	.|T	.|1	0.6721|0.6721	6.4687|6.4687	0.21995|0.21995	0.0:0.1851:0.0:0.8149|0.0:0.1851:0.0:0.8149	.|.	.|.	.|.	.|.	S|X	5|303	.|.	.|ENSP00000194118:Y303X	I|Y	+|+	2|3	0|2	KIAA0141|KIAA0141	141294000|141294000	0.998000|0.998000	0.40836|0.40836	0.775000|0.775000	0.31657|0.31657	0.545000|0.545000	0.35147|0.35147	0.773000|0.773000	0.26661|0.26661	1.007000|1.007000	0.39238|0.39238	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.507	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773	
PCDH12	51294	broad.mit.edu	37	5	141336574	141336574	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:141336574G>A	ENST00000231484.3	-	1	2053	c.843C>T	c.(841-843)ttC>ttT	p.F281F	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F281F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGAGGAAGAACTCCACCT	0.527																																					p.F281F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843T	5						.						100.0	94.0	96.0					5																	141336574		2203	4300	6503	141316758	SO:0001819	synonymous_variant	51294	exon1			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.843C>T	5.37:g.141336574G>A			141316758	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	CCDS4269.1																																																																																				0.527	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
YIPF5	81555	broad.mit.edu	37	5	143545145	143545145	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:143545145G>A	ENST00000274496.5	-	3	268	c.134C>T	c.(133-135)tCg>tTg	p.S45L	YIPF5_ENST00000448443.2_Missense_Mutation_p.S45L|YIPF5_ENST00000513112.1_5'UTR	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	45					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)		p.S45L(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GCCTTGCTGCGAATAGTCATA	0.408																																					p.S45L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C134T	5						.						157.0	138.0	144.0					5																	143545145		2203	4300	6503	143525338	SO:0001583	missense	81555	exon3			AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.134C>T	5.37:g.143545145G>A	ENSP00000274496:p.Ser45Leu		143525338	NM_030799	D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720375	0.68959	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000536767	T;T	0.32023	1.47;1.47	6.02	5.14	0.70334	.	0.251992	0.41294	D	0.000915	T	0.29524	0.0736	M	0.69823	2.125	0.80722	D	1	B	0.30193	0.272	B	0.20955	0.032	T	0.03576	-1.1023	10	0.25751	T	0.34	-6.6498	11.1335	0.48360	0.0675:0.1264:0.8061:0.0	.	45	Q969M3	YIPF5_HUMAN	L	45	ENSP00000274496:S45L;ENSP00000397704:S45L	ENSP00000274496:S45L	S	-	2	0	YIPF5	143525338	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.562000	0.73960	2.857000	0.98124	0.650000	0.86243	TCG		0.408	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799	
RBM27	54439	broad.mit.edu	37	5	145603076	145603076	+	Nonsense_Mutation	SNP	G	G	T	rs374488115		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:145603076G>T	ENST00000265271.5	+	3	455	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.E97*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	97					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E97*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAAAAGAAGAAATTAAAGA	0.373																																					p.E97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G289T	5						.						92.0	89.0	90.0					5																	145603076		1568	3581	5149	145583269	SO:0001587	stop_gained	54439	exon3			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.289G>T	5.37:g.145603076G>T	ENSP00000265271:p.Glu97*		145583269	NM_018989	Q8IYW9	Nonsense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	37	6.534612	0.97646	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.83	5.83	0.93111	.	0.154314	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-12.0882	20.1133	0.97917	0.0:0.0:1.0:0.0	.	.	.	.	X	97	.	ENSP00000265271:E97X	E	+	1	0	RBM27	145583269	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.264000	0.78432	2.762000	0.94881	0.591000	0.81541	GAA		0.373	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
STK32A	202374	broad.mit.edu	37	5	146754684	146754684	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:146754684A>C	ENST00000397936.3	+	11	1268	c.935A>C	c.(934-936)gAa>gCa	p.E312A	STK32A_ENST00000398523.3_Missense_Mutation_p.E312A	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	312							ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E312A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACCTTTGAACTTGAGGAA	0.403																																					p.E312A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A935C	5						.						62.0	57.0	59.0					5																	146754684		1568	3582	5150	146734877	SO:0001583	missense	202374	exon11				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.935A>C	5.37:g.146754684A>C	ENSP00000381030:p.Glu312Ala		146734877	NM_001112724	B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830380	0.91036	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	T;T	0.24350	1.86;1.86	5.78	5.78	0.91487	Protein kinase-like domain (1);	0.000000	0.48767	D	0.000162	T	0.57080	0.2029	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.992;1.0	T	0.64041	-0.6500	10	0.62326	D	0.03	.	15.0847	0.72142	1.0:0.0:0.0:0.0	.	312;312;312	B7Z9H7;Q8WU08;Q8WU08-3	.;ST32A_HUMAN;.	A	312	ENSP00000381030:E312A;ENSP00000381535:E312A	ENSP00000381030:E312A	E	+	2	0	STK32A	146734877	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.627000	0.74258	2.210000	0.71456	0.533000	0.62120	GAA		0.403	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001	
JAKMIP2	9832	broad.mit.edu	37	5	147016577	147016577	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:147016577T>G	ENST00000265272.5	-	11	2032	c.1565A>C	c.(1564-1566)tAt>tCt	p.Y522S	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Y480S|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Y522S	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	522						Golgi apparatus (GO:0005794)		p.Y522S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGCTTTATACCTTAGCAC	0.438																																					p.Y522S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1565C	5						.						172.0	180.0	177.0					5																	147016577		2203	4300	6503	146996770	SO:0001583	missense	9832	exon11			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1565A>C	5.37:g.147016577T>G	ENSP00000265272:p.Tyr522Ser		146996770	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074731	0.36566	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.22539	1.95;1.95;1.95	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.03473	-1.1033	10	0.23302	T	0.38	.	16.1957	0.82024	0.0:0.0:0.0:1.0	.	480;522;522;522	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	S	522;522;480;522	ENSP00000421398:Y522S;ENSP00000265272:Y522S;ENSP00000328989:Y480S	ENSP00000265272:Y522S	Y	-	2	0	JAKMIP2	146996770	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.751000	0.68720	2.226000	0.72624	0.533000	0.62120	TAT		0.438	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
JAKMIP2	9832	broad.mit.edu	37	5	147019219	147019219	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:147019219G>T	ENST00000265272.5	-	10	1973	c.1506C>A	c.(1504-1506)atC>atA	p.I502I	JAKMIP2_ENST00000333010.6_Silent_p.I460I|JAKMIP2_ENST00000507386.1_Silent_p.I502I	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	502						Golgi apparatus (GO:0005794)		p.I502I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGTCGATGATGCCTCCCG	0.453																																					p.I502I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1506A	5						.						346.0	342.0	344.0					5																	147019219		2203	4300	6503	146999412	SO:0001819	synonymous_variant	9832	exon10			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1506C>A	5.37:g.147019219G>T			146999412	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	CCDS4285.1																																																																																				0.453	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
JAKMIP2	9832	broad.mit.edu	37	5	147051340	147051340	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:147051340C>A	ENST00000265272.5	-	2	497	c.30G>T	c.(28-30)gaG>gaT	p.E10D	JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E10D	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	10						Golgi apparatus (GO:0005794)		p.E10D(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGGGCTTCTCGCCCTTAT	0.458																																					p.E10D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G30T	5						.						149.0	137.0	141.0					5																	147051340		2203	4300	6503	147031533	SO:0001583	missense	9832	exon2			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.30G>T	5.37:g.147051340C>A	ENSP00000265272:p.Glu10Asp		147031533	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	9.971	1.225410	0.22457	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000539401	T;T	0.25085	1.82;1.82	4.58	4.58	0.56647	.	0.051501	0.85682	D	0.000000	T	0.14227	0.0344	N	0.21282	0.65	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.11329	0.006;0.006;0.006	T	0.13176	-1.0519	10	0.17832	T	0.49	.	6.4753	0.22033	0.0:0.7654:0.0:0.2346	.	10;10;10	Q96AA8-3;G5E9Y0;Q96AA8	.;.;JKIP2_HUMAN	D	10	ENSP00000421398:E10D;ENSP00000265272:E10D	ENSP00000265272:E10D	E	-	3	2	JAKMIP2	147031533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.423000	0.34837	2.483000	0.83821	0.555000	0.69702	GAG		0.458	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
ANKH	56172	broad.mit.edu	37	5	14716866	14716866	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:14716866C>T	ENST00000284268.6	-	9	1420	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	ANKH_ENST00000535119.1_Missense_Mutation_p.A166T	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	364					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.A364T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTTCTGCAAAGGCAAAG	0.438																																					p.A364T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090A	5						.						104.0	97.0	99.0					5																	14716866		2203	4300	6503	14769866	SO:0001583	missense	56172	exon9			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1090G>A	5.37:g.14716866C>T	ENSP00000284268:p.Ala364Thr		14769866	NM_054027	B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	35	5.461834	0.96240	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.96104	-3.27;-3.91	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.96175	0.8753	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.96742	0.9547	10	0.72032	D	0.01	-5.9771	19.0707	0.93134	0.0:1.0:0.0:0.0	.	364	Q9HCJ1	ANKH_HUMAN	T	166;364	ENSP00000442524:A166T;ENSP00000284268:A364T	ENSP00000284268:A364T	A	-	1	0	ANKH	14769866	1.000000	0.71417	0.239000	0.24122	0.895000	0.52256	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	GCA		0.438	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027	
ANKH	56172	broad.mit.edu	37	5	14751255	14751255	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:14751255G>A	ENST00000284268.6	-	5	940	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.R6C	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	204					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.R204C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTGGTGCAGCGCACAAGTGCG	0.562																																					p.R204C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610T	5						.						83.0	77.0	79.0					5																	14751255		2203	4300	6503	14804255	SO:0001583	missense	56172	exon5			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.610C>T	5.37:g.14751255G>A	ENSP00000284268:p.Arg204Cys		14804255	NM_054027	B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680681	0.88542	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.96200	-3.94;-3.94	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95806	0.8635	L	0.56769	1.78	0.80722	D	1	D	0.53312	0.959	P	0.50537	0.643	D	0.96197	0.9142	10	0.87932	D	0	-38.0053	18.4427	0.90673	0.0:0.0:1.0:0.0	.	204	Q9HCJ1	ANKH_HUMAN	C	6;204	ENSP00000442524:R6C;ENSP00000284268:R204C	ENSP00000284268:R204C	R	-	1	0	ANKH	14804255	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.731000	0.84895	2.590000	0.87494	0.650000	0.86243	CGC		0.562	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027	
SPINK5	11005	broad.mit.edu	37	5	147505144	147505144	+	Intron	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:147505144C>T	ENST00000256084.7	+	29	2781				SPINK5_ENST00000359874.3_Missense_Mutation_p.R933C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5						anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R933C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCTGGGCGTTCCTTGGC	0.443																																					p.R933C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2797T	5						.						78.0	69.0	71.0					5																	147505144		1568	3582	5150	147485337	SO:0001627	intron_variant	11005	exon29			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2740-142C>T	5.37:g.147505144C>T			147485337	NM_001127698	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	1.747	-0.490120	0.04322	.	.	ENSG00000133710	ENST00000359874	T	0.41065	1.01	4.84	-5.1	0.02911	.	1.585410	0.03393	N	0.202177	T	0.24547	0.0595	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.08743	-1.0707	9	0.37606	T	0.19	0.7494	3.2589	0.06842	0.132:0.2852:0.09:0.4928	.	933	Q9NQ38-3	.	C	933	ENSP00000352936:R933C	ENSP00000352936:R933C	R	+	1	0	SPINK5	147485337	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.034000	0.01424	-1.368000	0.02149	-2.812000	0.00111	CGT		0.443	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
ABLIM3	22885	broad.mit.edu	37	5	148629378	148629378	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:148629378C>T	ENST00000506113.1	+	18	2182	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	ABLIM3_ENST00000326685.7_Splice_Site_p.S472F|ABLIM3_ENST00000517451.1_Splice_Site_p.S53F|ABLIM3_ENST00000356541.3_Splice_Site_p.S456F|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Splice_Site_p.S456F|ABLIM3_ENST00000309868.7_Splice_Site_p.S567F|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Splice_Site_p.S534F			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	567					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.S567F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTGCAGCCCCTCGGTCG	0.522																																					p.S567F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1700T	5						.						184.0	156.0	166.0					5																	148629378		2203	4300	6503	148609571	SO:0001630	splice_region_variant	22885	exon19			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1700-1C>T	5.37:g.148629378C>T			148609571	NM_014945	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	8.778	0.927536	0.18056	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	4.97	4.97	0.65823	.	0.200636	0.44483	D	0.000460	T	0.21186	0.0510	N	0.08118	0	0.51482	D	0.999929	B;B;B;B	0.20988	0.0;0.05;0.0;0.002	B;B;B;B	0.16289	0.001;0.015;0.001;0.001	T	0.06917	-1.0800	9	.	.	.	.	18.2137	0.89878	0.0:1.0:0.0:0.0	.	53;472;456;567	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	F	472;456;567;567;456;534;53;52	ENSP00000315841:S472F;ENSP00000348938:S456F;ENSP00000310309:S567F;ENSP00000425394:S567F;ENSP00000421183:S456F;ENSP00000420855:S534F;ENSP00000430150:S53F	.	S	+	2	0	ABLIM3	148609571	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.962000	0.70364	2.466000	0.83321	0.561000	0.74099	TCC		0.522	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	Missense_Mutation
FAT2	2196	broad.mit.edu	37	5	150911472	150911472	+	Missense_Mutation	SNP	C	C	T	rs141162743		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:150911472C>T	ENST00000261800.5	-	13	9499	c.9487G>A	c.(9487-9489)Gac>Aac	p.D3163N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3163	Cadherin 28. {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.D3163N(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)			GTGGTGGCGTCGATGGAAAAG	0.647																																					p.D3163N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9487A	5						.	C	ASN/ASP	0,4404		0,0,2202	58.0	63.0	61.0		9487	5.4	1.0	5	dbSNP_134	61	1,8597	1.2+/-3.3	0,1,4298	no	missense	FAT2	NM_001447.2	23	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	3163/4350	150911472	1,13001	2202	4299	6501	150891665	SO:0001583	missense	2196	exon13			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.9487G>A	5.37:g.150911472C>T	ENSP00000261800:p.Asp3163Asn		150891665	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.485391|4.485391	0.84854|0.84854	0.0|0.0	1.16E-4|1.16E-4	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.62788|.	0.0|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Cadherin (4);Cadherin-like (1);|.	0.096084|.	0.44902|.	D|.	0.000407|.	T|T	0.65974|0.65974	0.2743|0.2743	L|L	0.38953|0.38953	1.18|1.18	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.51057|.	0.941|.	P|.	0.48738|.	0.588|.	T|T	0.61217|0.61217	-0.7107|-0.7107	10|5	0.17832|.	T|.	0.49|.	.|.	19.2529|19.2529	0.93932|0.93932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3163|.	Q9NYQ8|.	FAT2_HUMAN|.	N|Q	3163|21	ENSP00000261800:D3163N|.	ENSP00000261800:D3163N|.	D|R	-|-	1|2	0|0	FAT2|FAT2	150891665|150891665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	7.671000|7.671000	0.83941|0.83941	2.557000|2.557000	0.86248|0.86248	0.557000|0.557000	0.71058|0.71058	GAC|CGA		0.647	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150922455	150922455	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:150922455C>A	ENST00000261800.5	-	9	8245	c.8233G>T	c.(8233-8235)Gac>Tac	p.D2745Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2745	Cadherin 24. {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.D2745Y(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCTGTGTCTGGGTCTAGG	0.498																																					p.D2745Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G8233T	5						.						149.0	130.0	137.0					5																	150922455		2203	4300	6503	150902648	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.8233G>T	5.37:g.150922455C>A	ENSP00000261800:p.Asp2745Tyr		150902648	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926273	0.34002	.	.	ENSG00000086570	ENST00000261800	T	0.54675	0.56	5.55	2.33	0.28932	Cadherin (4);Cadherin-like (1);	0.584562	0.17194	N	0.183390	T	0.60196	0.2250	M	0.63208	1.945	0.46564	D	0.999109	P	0.49961	0.93	P	0.60068	0.868	T	0.52139	-0.8615	10	0.25751	T	0.34	.	6.967	0.24629	0.0:0.5744:0.1594:0.2662	.	2745	Q9NYQ8	FAT2_HUMAN	Y	2745	ENSP00000261800:D2745Y	ENSP00000261800:D2745Y	D	-	1	0	FAT2	150902648	0.899000	0.30636	0.857000	0.33713	0.713000	0.41058	0.707000	0.25704	0.072000	0.16694	0.462000	0.41574	GAC		0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150922764	150922764	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:150922764C>T	ENST00000261800.5	-	9	7936	c.7924G>A	c.(7924-7926)Gtg>Atg	p.V2642M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2642	Cadherin 23. {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.V2642M(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)			ACCTTGACCACACCAGTGACT	0.488																																					p.V2642M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7924A	5						.						136.0	129.0	131.0					5																	150922764		2203	4300	6503	150902957	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.7924G>A	5.37:g.150922764C>T	ENSP00000261800:p.Val2642Met		150902957	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974587	0.34848	.	.	ENSG00000086570	ENST00000261800	T	0.53423	0.62	5.55	3.76	0.43208	Cadherin (4);Cadherin-like (1);	0.228766	0.30969	N	0.008518	T	0.49966	0.1588	M	0.66939	2.045	0.39425	D	0.966986	P	0.49185	0.92	P	0.48368	0.575	T	0.53194	-0.8473	10	0.44086	T	0.13	.	8.6706	0.34147	0.0:0.7735:0.0:0.2265	.	2642	Q9NYQ8	FAT2_HUMAN	M	2642	ENSP00000261800:V2642M	ENSP00000261800:V2642M	V	-	1	0	FAT2	150902957	0.952000	0.32445	1.000000	0.80357	0.949000	0.60115	2.084000	0.41625	1.345000	0.45676	0.462000	0.41574	GTG		0.488	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150946913	150946913	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:150946913C>A	ENST00000261800.5	-	1	1592	c.1580G>T	c.(1579-1581)aGa>aTa	p.R527I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	527	Cadherin 4. {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.R527I(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)			GGTATAAATTCTTTTCATGAG	0.463																																					p.R527I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1580T	5						.						59.0	67.0	64.0					5																	150946913		2203	4300	6503	150927106	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.1580G>T	5.37:g.150946913C>A	ENSP00000261800:p.Arg527Ile		150927106	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098693	0.76870	.	.	ENSG00000086570	ENST00000261800	T	0.61627	0.09	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.75796	0.3898	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76656	-0.2879	10	0.56958	D	0.05	.	19.2238	0.93810	0.0:1.0:0.0:0.0	.	527	Q9NYQ8	FAT2_HUMAN	I	527	ENSP00000261800:R527I	ENSP00000261800:R527I	R	-	2	0	FAT2	150927106	1.000000	0.71417	0.986000	0.45419	0.848000	0.48234	7.720000	0.84759	2.551000	0.86045	0.655000	0.94253	AGA		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
SPARC	6678	broad.mit.edu	37	5	151052767	151052767	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:151052767C>T	ENST00000231061.4	-	4	444	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	44	Asp/Glu-rich (acidic; binds calcium).				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)	p.G44E(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		AGGATTAGCTCCCACAGATAC	0.517																																					p.G44E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G131A	5						.						171.0	155.0	161.0					5																	151052767		2203	4300	6503	151032960	SO:0001583	missense	6678	exon4				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.131G>A	5.37:g.151052767C>T	ENSP00000231061:p.Gly44Glu		151032960	NM_003118	D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481616	0.84747	.	.	ENSG00000113140	ENST00000231061;ENST00000539687;ENST00000522348	T;T;T	0.80824	1.72;0.52;-1.42	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88561	0.3123	10	0.30854	T	0.27	-12.4305	18.3051	0.90177	0.0:1.0:0.0:0.0	.	44	P09486	SPRC_HUMAN	E	44	ENSP00000231061:G44E;ENSP00000444998:G44E;ENSP00000429152:G44E	ENSP00000231061:G44E	G	-	2	0	SPARC	151032960	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	6.678000	0.74508	2.303000	0.77524	0.561000	0.74099	GGA		0.517	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118	
NMUR2	56923	broad.mit.edu	37	5	151771915	151771915	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:151771915C>T	ENST00000255262.3	-	4	1250	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	362					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.R362Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGATGTTCCGCTGGGCAGG	0.532																																					p.R362Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1085A	5						.						147.0	134.0	139.0					5																	151771915		2203	4300	6503	151752108	SO:0001583	missense	56923	exon4			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1085G>A	5.37:g.151771915C>T	ENSP00000255262:p.Arg362Gln		151752108	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	c	5.729	0.319037	0.10845	.	.	ENSG00000132911	ENST00000255262	T	0.70282	-0.47	4.57	-5.38	0.02673	.	1.011270	0.07935	N	0.978297	T	0.53578	0.1805	L	0.41236	1.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45041	-0.9288	10	0.09590	T	0.72	-2.7318	10.2324	0.43262	0.0:0.1589:0.1174:0.7238	.	362	Q9GZQ4	NMUR2_HUMAN	Q	362	ENSP00000255262:R362Q	ENSP00000255262:R362Q	R	-	2	0	NMUR2	151752108	0.049000	0.20398	0.241000	0.24154	0.149000	0.21700	-0.532000	0.06164	-0.790000	0.04492	-1.399000	0.01144	CGG		0.532	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
GRIA1	2890	broad.mit.edu	37	5	153030051	153030051	+	Missense_Mutation	SNP	C	C	T	rs146865938		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:153030051C>T	ENST00000285900.5	+	4	965	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Missense_Mutation_p.R128C|GRIA1_ENST00000448073.4_Missense_Mutation_p.R218C|GRIA1_ENST00000518783.1_Missense_Mutation_p.R218C|GRIA1_ENST00000340592.5_Missense_Mutation_p.R208C|GRIA1_ENST00000521843.2_Missense_Mutation_p.R139C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	208					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R208C(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGAATCAGAACGCCTCAATGC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		15633	0.0		0.001	False		,,,				2504	0.0				p.R208C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C622T	5						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	91.0	84.0	86.0		622,622	4.5	0.9	5	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	208/907,208/907	153030051	1,13005	2203	4300	6503	153010244	SO:0001583	missense	2890	exon4				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.622C>T	5.37:g.153030051C>T	ENSP00000285900:p.Arg208Cys		153010244	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.79	3.220301	0.58560	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.33	4.47	0.54385	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87884	0.6290	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.939;0.999;0.998;0.961	D	0.87596	0.2494	10	0.87932	D	0	.	7.7112	0.28679	0.2715:0.6507:0.0:0.0777	.	218;218;128;218;208;208	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	C	208;208;128;162;208;139;139;218;218	ENSP00000285900:R208C;ENSP00000427920:R128C;ENSP00000339343:R208C;ENSP00000427864:R139C;ENSP00000442108:R139C;ENSP00000428994:R218C;ENSP00000415569:R218C	ENSP00000285900:R208C	R	+	1	0	GRIA1	153010244	1.000000	0.71417	0.869000	0.34112	0.678000	0.39670	2.299000	0.43611	1.257000	0.44085	-0.142000	0.14014	CGC		0.532	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
GRIA1	2890	broad.mit.edu	37	5	153078473	153078473	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:153078473G>A	ENST00000285900.5	+	10	1635	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	GRIA1_ENST00000518142.1_Missense_Mutation_p.G351D|GRIA1_ENST00000448073.4_Missense_Mutation_p.G441D|GRIA1_ENST00000518783.1_Missense_Mutation_p.G441D|GRIA1_ENST00000340592.5_Missense_Mutation_p.G431D|GRIA1_ENST00000521843.2_Missense_Mutation_p.G362D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	431					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.G431D(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAGTTTGAGGGCAATGACCGT	0.502																																					p.G431D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1292A	5						.						137.0	118.0	125.0					5																	153078473		2203	4300	6503	153058666	SO:0001583	missense	2890	exon10				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1292G>A	5.37:g.153078473G>A	ENSP00000285900:p.Gly431Asp		153058666	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165560	0.94768	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.79940	1.04;1.04;-1.32;1.04;1.04;1.04;-1.32	5.25	5.25	0.73442	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.89364	0.6694	M	0.74467	2.265	0.80722	D	1	D;D;P;D;D;P	0.56287	0.975;0.975;0.947;0.975;0.968;0.525	P;P;D;P;P;B	0.71184	0.867;0.867;0.972;0.867;0.733;0.33	D	0.89968	0.4091	10	0.59425	D	0.04	.	17.8952	0.88886	0.0:0.0:1.0:0.0	.	441;441;351;441;431;431	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	D	431;431;351;385;431;362;362;441;441	ENSP00000285900:G431D;ENSP00000427920:G351D;ENSP00000339343:G431D;ENSP00000427864:G362D;ENSP00000442108:G362D;ENSP00000428994:G441D;ENSP00000415569:G441D	ENSP00000285900:G431D	G	+	2	0	GRIA1	153058666	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.784000	0.85713	2.473000	0.83533	0.650000	0.86243	GGC		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
GRIA1	2890	broad.mit.edu	37	5	153149797	153149797	+	Missense_Mutation	SNP	C	C	T	rs564265256		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:153149797C>T	ENST00000285900.5	+	13	2435	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	GRIA1_ENST00000518142.1_Missense_Mutation_p.R618W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R708W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R708W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R698W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R629W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	698					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R698W(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGTTTTTGTGCGGACCACAGA	0.463																																					p.R698W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2092T	5						.						139.0	129.0	132.0					5																	153149797		2203	4300	6503	153129990	SO:0001583	missense	2890	exon13				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2092C>T	5.37:g.153149797C>T	ENSP00000285900:p.Arg698Trp		153129990	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336427	0.60963	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.41	0.887	0.19200	Ionotropic glutamate receptor (2);	0.104565	0.64402	D	0.000004	T	0.57301	0.2044	M	0.62723	1.935	0.45250	D	0.998258	D;D;D;D;D	0.76494	0.999;0.999;0.986;0.996;0.989	D;D;P;P;P	0.65573	0.936;0.936;0.668;0.838;0.882	T	0.62172	-0.6910	10	0.87932	D	0	.	14.2495	0.66011	0.7577:0.2423:0.0:0.0	.	708;708;618;698;698	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	W	698;698;618;652;698;631;629;708;708	ENSP00000285900:R698W;ENSP00000427920:R618W;ENSP00000339343:R698W;ENSP00000427864:R631W;ENSP00000442108:R629W;ENSP00000428994:R708W;ENSP00000415569:R708W	ENSP00000285900:R698W	R	+	1	2	GRIA1	153129990	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	2.482000	0.45224	0.207000	0.20607	-0.181000	0.13052	CGG		0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
GRIA1	2890	broad.mit.edu	37	5	153149890	153149890	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:153149890C>T	ENST00000285900.5	+	13	2528	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	GRIA1_ENST00000518142.1_Missense_Mutation_p.R649W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R739W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R739W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R729W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R660W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	729					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R729W(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CATTGAGCAGCGGAAACCCTG	0.507																																					p.R729W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2185T	5						.						114.0	96.0	102.0					5																	153149890		2203	4300	6503	153130083	SO:0001583	missense	2890	exon13				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2185C>T	5.37:g.153149890C>T	ENSP00000285900:p.Arg729Trp		153130083	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175363	0.57692	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.37	3.55	0.40652	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	H	0.95816	3.725	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;1.0;0.999;1.0	T	0.79612	-0.1731	10	0.87932	D	0	.	12.6669	0.56848	0.4346:0.5654:0.0:0.0	.	739;739;649;729;729	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	W	729;729;649;683;729;662;660;739;739	ENSP00000285900:R729W;ENSP00000427920:R649W;ENSP00000339343:R729W;ENSP00000427864:R662W;ENSP00000442108:R660W;ENSP00000428994:R739W;ENSP00000415569:R739W	ENSP00000285900:R729W	R	+	1	2	GRIA1	153130083	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	0.530000	0.23036	0.614000	0.30107	-0.158000	0.13435	CGG		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
GALNT10	55568	broad.mit.edu	37	5	153765981	153765981	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:153765981C>T	ENST00000297107.6	+	7	1184	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	GALNT10_ENST00000377661.2_Silent_p.I287I|GALNT10_ENST00000425427.2_Silent_p.I349I|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	349	Catalytic subdomain B.				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.I349I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGTATGAAATCTCCTTCAAGG	0.592																																					p.I349I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047T	5						.						69.0	71.0	70.0					5																	153765981		2203	4300	6503	153746174	SO:0001819	synonymous_variant	55568	exon7			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1047C>T	5.37:g.153765981C>T			153746174	NM_198321	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	CCDS4325.1																																																																																				0.592	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321	
CNOT8	9337	broad.mit.edu	37	5	154244779	154244779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:154244779C>T	ENST00000517876.1	+	4	621	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CNOT8_ENST00000521450.1_Intron|CNOT8_ENST00000519404.1_Nonsense_Mutation_p.R49*|CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000521402.1_3'UTR|CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000285896.6_Nonsense_Mutation_p.R49*|CNOT8_ENST00000524105.1_5'UTR|CNOT8_ENST00000403027.2_Nonsense_Mutation_p.R49*			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	49					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|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)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|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)	p.R49*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTTGTGGTGCGACCAATTGG	0.393																																					p.R49X	NSCLC(140;1804 1895 27149 29895 35312)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C145T	5						.						180.0	179.0	179.0					5																	154244779		2203	4300	6503	154224972	SO:0001587	stop_gained	9337	exon3			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.145C>T	5.37:g.154244779C>T	ENSP00000430493:p.Arg49*		154224972	NM_004779	B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Nonsense_Mutation	SNP	ENST00000517876.1	37	CCDS4329.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025020	0.75390	.	.	ENSG00000155508	ENST00000517876;ENST00000520472;ENST00000519211;ENST00000522458;ENST00000403027;ENST00000517568;ENST00000285896;ENST00000542339;ENST00000519430;ENST00000518028;ENST00000519404;ENST00000519394;ENST00000518775	.	.	.	5.1	3.08	0.35506	.	0.059595	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3796	15.8563	0.78979	0.2983:0.7017:0.0:0.0	.	.	.	.	X	49;49;49;49;49;49;49;26;49;49;49;49;49	.	ENSP00000285896:R49X	R	+	1	2	CNOT8	154224972	0.845000	0.29573	0.285000	0.24819	0.927000	0.56198	1.750000	0.38329	1.129000	0.42072	0.557000	0.71058	CGA		0.393	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779	
KIF4B	285643	broad.mit.edu	37	5	154395261	154395261	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:154395261G>T	ENST00000435029.4	+	1	2002	c.1842G>T	c.(1840-1842)aaG>aaT	p.K614N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	614					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.K614N(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)			ATCTGAAGAAGAAACTGAATG	0.463																																					p.K614N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1842T	5						.						123.0	119.0	120.0					5																	154395261		2203	4300	6503	154375454	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.1842G>T	5.37:g.154395261G>T	ENSP00000387875:p.Lys614Asn		154375454	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	14.56	2.572817	0.45798	.	.	ENSG00000226650	ENST00000435029	T	0.17370	2.28	2.14	1.22	0.21188	.	.	.	.	.	T	0.33673	0.0871	M	0.81341	2.54	0.58432	D	0.999991	D	0.62365	0.991	D	0.63703	0.917	T	0.05194	-1.0900	9	0.51188	T	0.08	.	4.7074	0.12856	0.3631:0.0:0.6369:0.0	.	614	Q2VIQ3	KIF4B_HUMAN	N	614	ENSP00000387875:K614N	ENSP00000387875:K614N	K	+	3	2	KIF4B	154375454	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	1.655000	0.37345	0.191000	0.20236	0.563000	0.77884	AAG		0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
ITK	3702	broad.mit.edu	37	5	156649963	156649963	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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		
CYFIP2	26999	broad.mit.edu	37	5	156752608	156752608	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:156752608G>A	ENST00000521420.1	+	16	1957	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	CYFIP2_ENST00000522463.1_Silent_p.T452T|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000318218.6_Silent_p.T673T|CYFIP2_ENST00000377576.3_Silent_p.T648T|CYFIP2_ENST00000541131.1_Silent_p.T573T|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.T347T|CYFIP2_ENST00000347377.6_Silent_p.T648T					cytoplasmic FMR1 interacting protein 2									p.T673T(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATTCTAACGGACCATATCC	0.537																																					p.T648T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1944A	5						.						62.0	63.0	63.0					5																	156752608		2055	4227	6282	156685186	SO:0001819	synonymous_variant	26999	exon17			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1866G>A	5.37:g.156752608G>A			156685186	NM_001037333		Silent	SNP	ENST00000521420.1	37																																																																																					0.537	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	
ADAM19	8728	broad.mit.edu	37	5	156932740	156932740	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:156932740T>G	ENST00000517905.1	-	11	1111	c.1067A>C	c.(1066-1068)gAt>gCt	p.D356A	ADAM19_ENST00000394020.1_Missense_Mutation_p.D358A|ADAM19_ENST00000257527.4_Missense_Mutation_p.D356A|ADAM19_ENST00000430702.2_Missense_Mutation_p.D89A			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D357A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTGCAGAATCATGGGTCAT	0.592																																					p.D356A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1067C	5						.						63.0	51.0	55.0					5																	156932740		2203	4300	6503	156865318	SO:0001583	missense	8728	exon11			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1067A>C	5.37:g.156932740T>G	ENSP00000428654:p.Asp356Ala		156865318	NM_033274	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.	.	.	.	.	.	.	.	.	.	T	20.7	4.028229	0.75390	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.91351	1.49;-2.83;-2.83;-2.83	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.97514	0.9186	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99222	1.0879	10	0.87932	D	0	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	356;89	Q9H013-2;E9PD32	.;.	A	89;356;358;356	ENSP00000414088:D89A;ENSP00000257527:D356A;ENSP00000377588:D358A;ENSP00000428654:D356A	ENSP00000257527:D356A	D	-	2	0	ADAM19	156865318	1.000000	0.71417	0.153000	0.22517	0.421000	0.31385	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	GAT		0.592	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	
UBLCP1	134510	broad.mit.edu	37	5	158697613	158697613	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:158697613A>C	ENST00000296786.6	+	5	736	c.410A>C	c.(409-411)aAa>aCa	p.K137T		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	137	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.K137T(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGAAGGGAAAAAGCTTTTG	0.333																																					p.K137T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A410C	5						.						76.0	76.0	76.0					5																	158697613		2203	4299	6502	158630191	SO:0001583	missense	134510	exon5			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.410A>C	5.37:g.158697613A>C	ENSP00000296786:p.Lys137Thr		158630191	NM_145049	D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192801	0.78902	.	.	ENSG00000164332	ENST00000296786	T	0.21543	2.0	5.79	5.79	0.91817	HAD-superfamily hydrolase, subfamily IIID (1);NLI interacting factor (2);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.93720	3.45	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	T	0.66114	-0.6004	10	0.48119	T	0.1	-21.2897	16.1293	0.81414	1.0:0.0:0.0:0.0	.	137	Q8WVY7	UBCP1_HUMAN	T	137	ENSP00000296786:K137T	ENSP00000296786:K137T	K	+	2	0	UBLCP1	158630191	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.962000	0.93254	2.212000	0.71576	0.460000	0.39030	AAA		0.333	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049	
GABRG2	2566	broad.mit.edu	37	5	161531030	161531030	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:161531030C>T	ENST00000361925.4	+	6	987	c.767C>T	c.(766-768)tCc>tTc	p.S256F	GABRG2_ENST00000356592.3_Missense_Mutation_p.S256F|GABRG2_ENST00000393933.4_Missense_Mutation_p.S161F|GABRG2_ENST00000414552.2_Missense_Mutation_p.S296F			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	256					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S256F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGACAACTTCCGGTAAGATG	0.383																																					p.S256F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C767T	5						.						74.0	72.0	72.0					5																	161531030		2203	4300	6503	161463608	SO:0001583	missense	2566	exon6				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.767C>T	5.37:g.161531030C>T	ENSP00000354651:p.Ser256Phe		161463608	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680972	0.47886	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79653	-1.29;-1.13;-1.29;-1.29;-1.29	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.171718	0.53938	D	0.000047	D	0.89269	0.6667	M	0.75777	2.31	0.80722	D	1	D;B;B	0.63880	0.993;0.218;0.182	D;B;B	0.65443	0.935;0.285;0.211	D	0.90281	0.4315	10	0.87932	D	0	.	18.7444	0.91787	0.0:1.0:0.0:0.0	.	296;256;256	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	F	256;296;256;161;161	ENSP00000349000:S256F;ENSP00000410732:S296F;ENSP00000354651:S256F;ENSP00000377510:S161F;ENSP00000430182:S161F	ENSP00000349000:S256F	S	+	2	0	GABRG2	161463608	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.726000	0.84824	2.533000	0.85409	0.655000	0.94253	TCC		0.383	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
FAM134B	54463	broad.mit.edu	37	5	16483478	16483478	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:16483478A>C	ENST00000306320.9	-	4	648	c.562T>G	c.(562-564)Ttt>Gtt	p.F188V	FAM134B_ENST00000399793.2_Missense_Mutation_p.F47V	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	188					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.F188V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TGCTGTTTAAAAAGAGACATT	0.373																																					p.F188V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T562G	5						.						93.0	91.0	92.0					5																	16483478		1823	4080	5903	16536478	SO:0001583	missense	54463	exon4			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.562T>G	5.37:g.16483478A>C	ENSP00000304642:p.Phe188Val		16536478	NM_001034850	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994605	0.93167	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.49432	0.78;0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.69862	-0.5030	10	0.87932	D	0	-12.8448	16.2826	0.82703	1.0:0.0:0.0:0.0	.	188;47	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	V	47;188	ENSP00000382691:F47V;ENSP00000304642:F188V	ENSP00000304642:F188V	F	-	1	0	FAM134B	16536478	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.750000	0.91623	2.307000	0.77673	0.528000	0.53228	TTT		0.373	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850	
MYO10	4651	broad.mit.edu	37	5	16681987	16681987	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:16681987G>A	ENST00000513610.1	-	31	4636	c.4182C>T	c.(4180-4182)atC>atT	p.I1394I	MYO10_ENST00000515803.1_Silent_p.I733I|MYO10_ENST00000274203.9_Silent_p.I751I|MYO10_ENST00000427430.2_Silent_p.I751I|MYO10_ENST00000505695.1_Silent_p.I733I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1394	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.I1394I(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						CACCTCTCACGATGAATTCCT	0.547																																					p.I1394I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4182T	5						.						75.0	80.0	78.0					5																	16681987		2101	4213	6314	16734987	SO:0001819	synonymous_variant	4651	exon31			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.4182C>T	5.37:g.16681987G>A			16734987	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																				0.547	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
MAT2B	27430	broad.mit.edu	37	5	162945299	162945299	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:162945299G>A	ENST00000321757.6	+	7	1074	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	MAT2B_ENST00000521838.2_3'UTR|MAT2B_ENST00000280969.5_Missense_Mutation_p.R301Q|MAT2B_ENST00000518095.1_3'UTR	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	312					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|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)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)	p.R301Q(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	ACACCATTTCGAATTGGAATC	0.423																																					p.R312Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935A	5						.						99.0	93.0	95.0					5																	162945299		2203	4300	6503	162877877	SO:0001583	missense	27430	exon7			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.935G>A	5.37:g.162945299G>A	ENSP00000325425:p.Arg312Gln		162877877	NM_013283	B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	ENST00000321757.6	37	CCDS4365.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966825	0.34659	.	.	ENSG00000038274	ENST00000280969;ENST00000321757;ENST00000415433	T;T	0.48522	0.81;0.81	5.89	4.12	0.48240	.	0.228482	0.34959	N	0.003558	T	0.25865	0.0630	N	0.22421	0.69	0.80722	D	1	P;P	0.44344	0.833;0.799	B;B	0.22753	0.041;0.025	T	0.03641	-1.1017	10	0.34782	T	0.22	.	12.8747	0.57984	0.1198:0.0:0.8802:0.0	.	312;301	Q9NZL9;Q9NZL9-2	MAT2B_HUMAN;.	Q	301;312;206	ENSP00000280969:R301Q;ENSP00000325425:R312Q	ENSP00000280969:R301Q	R	+	2	0	MAT2B	162877877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.007000	0.63984	0.833000	0.34828	0.655000	0.94253	CGA		0.423	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283	
TENM2	57451	broad.mit.edu	37	5	167489225	167489225	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:167489225C>A	ENST00000518659.1	+	7	1509	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	TENM2_ENST00000520394.1_Silent_p.L258L|TENM2_ENST00000545108.1_Silent_p.L490L|TENM2_ENST00000519204.1_Silent_p.L369L|TENM2_ENST00000403607.2_Silent_p.L323L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	490					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.L323L(1)									AGGACGCTCTCTTTGGTGTTT	0.413																																					p.L490L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1470A	5						.						116.0	114.0	115.0					5																	167489225		1913	4127	6040	167421803	SO:0001819	synonymous_variant	57451	exon7			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.1470C>A	5.37:g.167489225C>A			167421803	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																					0.413	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
MYO10	4651	broad.mit.edu	37	5	16758256	16758256	+	Missense_Mutation	SNP	G	G	A	rs374278677		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:16758256G>A	ENST00000513610.1	-	18	2273	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	607	Myosin motor.				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.R607W(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						GTAGGCCGCCGATGTTTGCTT	0.438																																					p.R607W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1819T	5						.	G	TRP/ARG	0,3846		0,0,1923	144.0	147.0	146.0		1819	5.0	1.0	5		146	1,8297		0,1,4148	no	missense	MYO10	NM_012334.2	101	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	607/2059	16758256	1,12143	1923	4149	6072	16811256	SO:0001583	missense	4651	exon18			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.1819C>T	5.37:g.16758256G>A	ENSP00000421280:p.Arg607Trp		16811256	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900669	0.72754	0.0	1.21E-4	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.87571	-2.27;-2.27	5.94	5.0	0.66597	Myosin head, motor domain (2);	.	.	.	.	D	0.94955	0.8368	M	0.93638	3.44	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.72338	0.977;0.933	D	0.95730	0.8774	9	0.87932	D	0	.	15.9334	0.79683	0.0:0.0:0.777:0.223	.	248;607	Q69YP8;Q9HD67	.;MYO10_HUMAN	W	607;618	ENSP00000421280:R607W;ENSP00000421309:R618W	ENSP00000421280:R607W	R	-	1	2	MYO10	16811256	0.997000	0.39634	0.998000	0.56505	0.939000	0.58152	1.934000	0.40163	2.807000	0.96579	0.591000	0.81541	CGG		0.438	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
SLIT3	6586	broad.mit.edu	37	5	168123346	168123346	+	Silent	SNP	G	G	A	rs61746224	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:168123346G>A	ENST00000519560.1	-	28	3452	c.3033C>T	c.(3031-3033)tgC>tgT	p.C1011C	SLIT3_ENST00000332966.8_Silent_p.C1018C|SLIT3_ENST00000404867.3_Silent_p.C1011C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1011	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.C1011C(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)			TCCCGTCCACGCAGGTGGCAT	0.542													G|||	11	0.00219649	0.0083	0.0	5008	,	,		20522	0.0		0.0	False		,,,				2504	0.0				p.C1011C	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3033T	5						.	G		23,4383	29.9+/-59.1	0,23,2180	281.0	230.0	247.0		3033	-5.2	0.9	5	dbSNP_129	247	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	SLIT3	NM_003062.2		0,27,6476	AA,AG,GG		0.0465,0.522,0.2076		1011/1524	168123346	27,12979	2203	4300	6503	168055924	SO:0001819	synonymous_variant	6586	exon28			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.3033C>T	5.37:g.168123346G>A			168055924	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																				0.542	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
SLIT3	6586	broad.mit.edu	37	5	168222553	168222553	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:168222553G>A	ENST00000519560.1	-	10	1385	c.966C>T	c.(964-966)atC>atT	p.I322I	SLIT3_ENST00000332966.8_Silent_p.I322I|SLIT3_ENST00000404867.3_Silent_p.I322I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	322					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.I322I(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)			CTCCTGCAGGGATGGCTTTGA	0.483																																					p.I322I	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966T	5						.						166.0	157.0	160.0					5																	168222553		2203	4300	6503	168155131	SO:0001819	synonymous_variant	6586	exon10			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.966C>T	5.37:g.168222553G>A			168155131	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																				0.483	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
DOCK2	1794	broad.mit.edu	37	5	169116288	169116288	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:169116288G>A	ENST00000256935.8	+	9	874	c.794G>A	c.(793-795)gGc>gAc	p.G265D		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	265					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.G265D(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)			GGCAGCCGGGGCTTCCCTAAG	0.522																																					p.G265D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794A	5						.						131.0	114.0	120.0					5																	169116288		2203	4300	6503	169048866	SO:0001583	missense	1794	exon9			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.794G>A	5.37:g.169116288G>A	ENSP00000256935:p.Gly265Asp		169048866	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436534	0.96168	.	.	ENSG00000134516	ENST00000256935	T	0.17854	2.25	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58787	-0.7575	10	0.49607	T	0.09	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	265	Q92608	DOCK2_HUMAN	D	265	ENSP00000256935:G265D	ENSP00000256935:G265D	G	+	2	0	DOCK2	169048866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.773000	0.98989	2.832000	0.97577	0.655000	0.94253	GGC		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169125383	169125383	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:169125383G>A	ENST00000256935.8	+	11	1065	c.985G>A	c.(985-987)Gat>Aat	p.D329N		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	329					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.D329N(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)			TCTAGTTATGGATATAACAGA	0.413																																					p.D329N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	5						.						160.0	146.0	151.0					5																	169125383		2203	4300	6503	169057961	SO:0001583	missense	1794	exon11			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.985G>A	5.37:g.169125383G>A	ENSP00000256935:p.Asp329Asn		169057961	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412330	0.96072	.	.	ENSG00000134516	ENST00000256935	T	0.17213	2.29	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.01643	-1.1305	10	0.52906	T	0.07	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	329	Q92608	DOCK2_HUMAN	N	329	ENSP00000256935:D329N	ENSP00000256935:D329N	D	+	1	0	DOCK2	169057961	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.336000	0.96533	2.824000	0.97209	0.655000	0.94253	GAT		0.413	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
LCP2	3937	broad.mit.edu	37	5	169680132	169680132	+	Silent	SNP	C	C	T	rs373084459		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:169680132C>T	ENST00000046794.5	-	18	1851	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	LCP2_ENST00000521416.1_Silent_p.A207A	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	412					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.A412A(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CCTCTTCCTCCGCGGGGGATG	0.458																																					p.A412A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1236A	5						.	C		0,3636		0,0,1818	34.0	33.0	33.0		1236	3.0	0.0	5		33	1,8149		0,1,4074	no	coding-synonymous	LCP2	NM_005565.3		0,1,5892	TT,TC,CC		0.0123,0.0,0.0085		412/534	169680132	1,11785	1818	4075	5893	169612710	SO:0001819	synonymous_variant	3937	exon18				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1236G>A	5.37:g.169680132C>T			169612710	NM_005565	A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	CCDS47339.1																																																																																				0.458	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565	
KCNMB1	3779	broad.mit.edu	37	5	169812403	169812403	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:169812403G>T	ENST00000274629.4	-	2	491	c.49C>A	c.(49-51)Ctt>Att	p.L17I	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.L17I	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	17					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.L17I(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CCCAGGCAAAGGGCTCGTGTC	0.542																																					p.L17I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49A	5						.						157.0	126.0	137.0					5																	169812403		2203	4300	6503	169744981	SO:0001583	missense	3779	exon2			AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.49C>A	5.37:g.169812403G>T	ENSP00000274629:p.Leu17Ile		169744981	NM_004137	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612661	0.46631	.	.	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.07444	3.19;3.19	5.14	5.14	0.70334	.	0.057297	0.64402	D	0.000001	T	0.16854	0.0405	L	0.28014	0.82	0.36736	D	0.881974	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.11131	-1.0600	9	.	.	.	.	14.4764	0.67548	0.0:0.0:1.0:0.0	.	17;17	Q16558-2;Q16558	.;KCMB1_HUMAN	I	17	ENSP00000274629:L17I;ENSP00000427940:L17I	.	L	-	1	0	KCNMB1	169744981	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	2.553000	0.45837	2.545000	0.85829	0.655000	0.94253	CTT		0.542	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3		
GABRP	2568	broad.mit.edu	37	5	170224492	170224492	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:170224492A>G	ENST00000518525.1	+	7	945	c.481A>G	c.(481-483)Aac>Gac	p.N161D	GABRP_ENST00000265294.4_Missense_Mutation_p.N161D|GABRP_ENST00000519385.1_Missense_Mutation_p.N161D|GABRP_ENST00000519598.1_Missense_Mutation_p.N161D			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	161					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.N161D(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)|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)	TGTTGCATGTAACATGGATCT	0.423																																					p.N161D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A481G	5						.						149.0	136.0	140.0					5																	170224492		2203	4300	6503	170157070	SO:0001583	missense	2568	exon6			U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.481A>G	5.37:g.170224492A>G	ENSP00000430100:p.Asn161Asp		170157070	NM_014211	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.486252	0.63962	.	.	ENSG00000094755	ENST00000521481;ENST00000522868;ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.52	4.36	0.52297	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.224748	0.52532	D	0.000072	T	0.78149	0.4238	L	0.35542	1.07	0.49687	D	0.999818	P;D	0.59767	0.549;0.986	B;P	0.60473	0.305;0.875	T	0.75233	-0.3390	10	0.33141	T	0.24	.	11.0743	0.48021	0.9267:0.0:0.0733:0.0	.	161;161	E7EWG0;O00591	.;GBRP_HUMAN	D	161;161;161;59;161;161;161	ENSP00000428804:N161D;ENSP00000430188:N161D;ENSP00000430100:N161D;ENSP00000265294:N161D;ENSP00000430727:N161D;ENSP00000430772:N161D	ENSP00000265294:N161D	N	+	1	0	GABRP	170157070	1.000000	0.71417	0.791000	0.31998	0.942000	0.58702	9.271000	0.95698	1.049000	0.40321	0.523000	0.50628	AAC		0.423	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	
BNIP1	662	broad.mit.edu	37	5	172590860	172590860	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:172590860C>T	ENST00000351486.5	+	6	654	c.623C>T	c.(622-624)gCg>gTg	p.A208V	BNIP1_ENST00000231668.9_Missense_Mutation_p.A251V|BNIP1_ENST00000393770.4_Missense_Mutation_p.A174V|BNIP1_ENST00000352523.6_Missense_Mutation_p.A217V	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	208					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.A251V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCTTCCTTGCGCTAGCCCTG	0.502																																					p.A217V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650T	5						.						135.0	127.0	130.0					5																	172590860		2203	4300	6503	172523466	SO:0001583	missense	662	exon6			AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.623C>T	5.37:g.172590860C>T	ENSP00000239215:p.Ala208Val		172523466	NM_013980	D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323639	0.81580	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.56275	0.52;0.48;0.47;0.6	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	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	0.79108	0.983;0.987;0.978;0.992	T	0.78132	-0.2323	10	0.87932	D	0	.	19.9469	0.97185	0.0:1.0:0.0:0.0	.	174;217;208;251	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	V	251;208;217;174	ENSP00000231668:A251V;ENSP00000239215:A208V;ENSP00000239214:A217V;ENSP00000377365:A174V	ENSP00000231668:A251V	A	+	2	0	BNIP1	172523466	1.000000	0.71417	0.149000	0.22428	0.278000	0.26855	7.487000	0.81328	2.714000	0.92807	0.650000	0.86243	GCG		0.502	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979	
NSD1	64324	broad.mit.edu	37	5	176638117	176638117	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:176638117A>C	ENST00000439151.2	+	5	2762	c.2717A>C	c.(2716-2718)aAa>aCa	p.K906T	NSD1_ENST00000354179.4_Missense_Mutation_p.K637T|NSD1_ENST00000347982.4_Missense_Mutation_p.K637T|NSD1_ENST00000361032.4_Missense_Mutation_p.K803T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	906					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.K906T(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)		CCAGACTACAAATTCAGTACA	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.K906T			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2717C	5						.						117.0	112.0	113.0					5																	176638117		2203	4300	6503	176570723	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.2717A>C	5.37:g.176638117A>C	ENSP00000395929:p.Lys906Thr		176570723	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.150883	0.57151	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95756	-3.73;-3.74;-3.73;-3.8	5.69	5.69	0.88448	.	0.088906	0.48767	D	0.000162	D	0.94958	0.8369	L	0.27053	0.805	0.35653	D	0.811957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.964;0.975;0.946	D	0.95492	0.8570	9	.	.	.	.	11.3256	0.49446	0.9274:0.0:0.0726:0.0	.	637;803;906	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	T	637;906;637;803	ENSP00000346111:K637T;ENSP00000395929:K906T;ENSP00000343209:K637T;ENSP00000354310:K803T	.	K	+	2	0	NSD1	176570723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.631000	0.67812	2.291000	0.77112	0.533000	0.62120	AAA		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
NSD1	64324	broad.mit.edu	37	5	176709529	176709529	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:176709529C>T	ENST00000439151.2	+	19	6001	c.5956C>T	c.(5956-5958)Cgc>Tgc	p.R1986C	NSD1_ENST00000361032.4_Missense_Mutation_p.R1883C|NSD1_ENST00000347982.4_Missense_Mutation_p.R1717C|NSD1_ENST00000354179.4_Missense_Mutation_p.R1717C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1986	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.			RYAQEH -> KHAHEN (in Ref. 3; AAK92049). {ECO:0000305}.	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.R1986C(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)		AGCTCGAATTCGCTATGCTCA	0.358			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R1986C			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5956T	5						.						212.0	207.0	209.0					5																	176709529		2203	4300	6503	176642135	SO:0001583	missense	64324	exon19	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.5956C>T	5.37:g.176709529C>T	ENSP00000395929:p.Arg1986Cys		176642135	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258192	0.80246	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57	5.77	5.77	0.91146	SET domain (3);	0.105490	0.43110	D	0.000608	D	0.95001	0.8382	M	0.83012	2.62	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.70227	0.949;0.968	D	0.94902	0.8057	10	0.87932	D	0	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	1717;1986	Q96L73-2;Q96L73	.;NSD1_HUMAN	C	1717;1986;1717;1883	ENSP00000346111:R1717C;ENSP00000395929:R1986C;ENSP00000343209:R1717C;ENSP00000354310:R1883C	ENSP00000343209:R1717C	R	+	1	0	NSD1	176642135	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.876000	0.63079	2.884000	0.98904	0.655000	0.94253	CGC		0.358	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
GRK6	2870	broad.mit.edu	37	5	176861904	176861904	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:176861904G>A	ENST00000355472.5	+	10	1099	c.931G>A	c.(931-933)Gac>Aac	p.D311N	GRK6_ENST00000507633.1_Splice_Site_p.D311N|GRK6_ENST00000393576.3_Splice_Site_p.D277N|GRK6_ENST00000528793.1_Splice_Site_p.D311N|GRK6_ENST00000355958.5_Splice_Site_p.D311N	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.D311N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCACAGGGACCTGAAGCC	0.637																																					p.D311N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	5						.						66.0	64.0	65.0					5																	176861904		2203	4300	6503	176794510	SO:0001630	splice_region_variant	2870	exon10				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.930-1G>A	5.37:g.176861904G>A			176794510	NM_001004105	O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.863679	0.91511	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	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);	0.046053	0.85682	D	0.000000	D	0.97517	0.9187	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	1.0;1.0;0.998;0.989	D	0.98335	1.0535	10	0.87932	D	0	-25.0182	19.5238	0.95196	0.0:0.0:1.0:0.0	.	311;281;311;311	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	N	311;311;277;311;311	ENSP00000347655:D311N;ENSP00000427581:D311N;ENSP00000377204:D277N;ENSP00000348230:D311N;ENSP00000433511:D311N	ENSP00000347655:D311N	D	+	1	0	GRK6	176794510	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	9.651000	0.98493	2.630000	0.89119	0.556000	0.70494	GAC		0.637	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082	Missense_Mutation
GRM6	2916	broad.mit.edu	37	5	178413928	178413928	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:178413928C>T	ENST00000517717.1	-	8	1449	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	GRM6_ENST00000231188.5_Missense_Mutation_p.D471N|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	471					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)	p.D471N(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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;0.245)		TGGAAGATGTCGTACCGCCCG	0.627																																					p.D471N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1411A	5						.						82.0	66.0	72.0					5																	178413928		2203	4300	6503	178346534	SO:0001583	missense	2916	exon7			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1411G>A	5.37:g.178413928C>T	ENSP00000430767:p.Asp471Asn		178346534	NM_000843		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853272	0.51270	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.82893	-1.66;-1.66	4.74	4.74	0.60224	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.87394	0.6166	L	0.51914	1.62	0.51482	D	0.99992	D;B	0.89917	1.0;0.057	D;B	0.78314	0.991;0.037	D	0.84232	0.0467	9	0.20046	T	0.44	.	15.5896	0.76517	0.0:1.0:0.0:0.0	.	599;471	E7EX65;O15303	.;GRM6_HUMAN	N	599;471;471	ENSP00000231188:D471N;ENSP00000430767:D471N	ENSP00000231188:D471N	D	-	1	0	GRM6	178346534	1.000000	0.71417	0.941000	0.38009	0.719000	0.41307	7.652000	0.83633	2.339000	0.79563	0.462000	0.41574	GAC		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ADAMTS2	9509	broad.mit.edu	37	5	178700026	178700026	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:178700026C>T	ENST00000251582.7	-	3	675	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E192K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	192					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E192K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCAAGGGTTCGATGAAGAAC	0.607																																					p.E192K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	5						.						80.0	77.0	78.0					5																	178700026		2203	4300	6503	178632632	SO:0001583	missense	9509	exon3			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.574G>A	5.37:g.178700026C>T	ENSP00000251582:p.Glu192Lys		178632632	NM_021599		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782430	0.90282	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.09445	2.98;2.98	4.96	4.96	0.65561	Peptidase M12B, propeptide (1);	0.000000	0.37304	N	0.002143	T	0.28995	0.0720	L	0.60455	1.87	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.01053	-1.1467	10	0.87932	D	0	.	13.7201	0.62720	0.0:1.0:0.0:0.0	.	192;192	O95450-2;O95450	.;ATS2_HUMAN	K	192	ENSP00000251582:E192K;ENSP00000274609:E192K	ENSP00000251582:E192K	E	-	1	0	ADAMTS2	178632632	1.000000	0.71417	0.611000	0.29010	0.926000	0.56050	5.753000	0.68736	2.284000	0.76573	0.561000	0.74099	GAA		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
MAPK9	5601	broad.mit.edu	37	5	179669692	179669692	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:179669692T>G	ENST00000452135.2	-	8	1050	c.752A>C	c.(751-753)aAa>aCa	p.K251T	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.K251T|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000393360.3_Missense_Mutation_p.K251T|MAPK9_ENST00000455781.1_Missense_Mutation_p.K251T			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.K251T(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTGAAGTTTCTTCATGAA	0.383																																					p.K251T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A752C	5						.						141.0	132.0	135.0					5																	179669692		2203	4300	6503	179602298	SO:0001583	missense	5601	exon8			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.752A>C	5.37:g.179669692T>G	ENSP00000394560:p.Lys251Thr		179602298	NM_139070	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011304	0.54361	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111	T;T;T;T	0.66460	-0.18;-0.18;-0.21;-0.21	5.5	4.33	0.51752	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129874	0.52532	D	0.000062	T	0.70500	0.3231	L	0.33485	1.01	0.80722	D	1	D;P;P;P	0.54772	0.968;0.889;0.819;0.947	P;P;P;D	0.63877	0.868;0.848;0.848;0.919	T	0.72225	-0.4355	10	0.87932	D	0	-19.399	11.42	0.49976	0.0:0.071:0.0:0.929	.	251;251;251;251	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	T	251	ENSP00000394560:K251T;ENSP00000377028:K251T;ENSP00000389338:K251T;ENSP00000345524:K251T	ENSP00000345524:K251T	K	-	2	0	MAPK9	179602298	1.000000	0.71417	0.999000	0.59377	0.308000	0.27856	5.609000	0.67661	0.910000	0.36722	-0.297000	0.09499	AAA		0.383	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3		
MAPK9	5601	broad.mit.edu	37	5	179707556	179707556	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:179707556G>A	ENST00000452135.2	-	2	304	c.6C>T	c.(4-6)agC>agT	p.S2S	MAPK9_ENST00000425491.2_Silent_p.S2S|MAPK9_ENST00000397072.3_Silent_p.S2S|MAPK9_ENST00000343111.6_Silent_p.S2S|MAPK9_ENST00000347470.4_Silent_p.S2S|MAPK9_ENST00000393360.3_Silent_p.S2S|MAPK9_ENST00000455781.1_Silent_p.S2S|MAPK9_ENST00000539014.1_Silent_p.S2S			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	2					cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTACTGTCGCTCATGATGC	0.463																																					p.S2S												.	.	0			c.C6T	5						.						107.0	103.0	104.0					5																	179707556		2203	4300	6503	179640162	SO:0001819	synonymous_variant	5601	exon2			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.6C>T	5.37:g.179707556G>A			179640162	NM_139070	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	ENST00000452135.2	37	CCDS4453.1																																																																																				0.463	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3		
BRD9	65980	broad.mit.edu	37	5	878568	878568	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:878568C>T	ENST00000467963.1	-	11	1339	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000483173.1_Silent_p.S338S|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000323510.4_Silent_p.S295S|BRD9_ENST00000388890.4_Silent_p.S275S	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	391					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.S295S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TATTCTGCATCGAAAGCGCAG	0.567																																					p.S391S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1173A	5						.						112.0	95.0	100.0					5																	878568		2203	4300	6503	931568	SO:0001819	synonymous_variant	65980	exon11			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1173G>A	5.37:g.878568C>T			931568	NM_023924	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.567	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924	
ADAMTS16	170690	broad.mit.edu	37	5	5239964	5239964	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:5239964G>A	ENST00000274181.7	+	16	2587	c.2449G>A	c.(2449-2451)Gac>Aac	p.D817N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	817	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D817N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACTACTTTCGACTACAGACG	0.517																																					p.D817N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2449A	5						.						98.0	96.0	97.0					5																	5239964		1867	4100	5967	5292964	SO:0001583	missense	170690	exon16			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.2449G>A	5.37:g.5239964G>A	ENSP00000274181:p.Asp817Asn		5292964	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196456	0.22037	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.51325	0.71	5.56	-0.818	0.10833	ADAM-TS Spacer 1 (1);	0.626077	0.16009	N	0.233894	T	0.24586	0.0596	N	0.17674	0.51	0.27034	N	0.964167	B;B	0.18310	0.009;0.027	B;B	0.15484	0.008;0.013	T	0.08868	-1.0701	10	0.38643	T	0.18	.	2.4602	0.04539	0.2123:0.3512:0.3166:0.1199	.	817;817	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	N	817	ENSP00000274181:D817N	ENSP00000274181:D817N	D	+	1	0	ADAMTS16	5292964	0.589000	0.26807	0.004000	0.12327	0.716000	0.41182	0.845000	0.27668	-0.508000	0.06540	0.655000	0.94253	GAC		0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ICE1	23379	broad.mit.edu	37	5	5463259	5463259	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:5463259A>C	ENST00000296564.7	+	13	4034	c.3812A>C	c.(3811-3813)cAa>cCa	p.Q1271P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1271					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.Q1271P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CAAGAACTTCAAACAAATTCT	0.348																																					p.Q1271P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3812C	5						.						33.0	34.0	33.0					5																	5463259		1842	4092	5934	5516259	SO:0001583	missense	23379	exon13																														ENST00000296564.7:c.3812A>C	5.37:g.5463259A>C	ENSP00000296564:p.Gln1271Pro		5516259	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906448	0.52333	.	.	ENSG00000164151	ENST00000296564	T	0.10573	2.86	5.1	5.1	0.69264	.	.	.	.	.	T	0.13543	0.0328	N	0.24115	0.695	0.09310	N	1	D	0.60160	0.987	P	0.52343	0.696	T	0.12016	-1.0564	9	0.52906	T	0.07	-0.1221	11.2709	0.49138	1.0:0.0:0.0:0.0	.	1271	Q9Y2F5	K0947_HUMAN	P	1271	ENSP00000296564:Q1271P	ENSP00000296564:Q1271P	Q	+	2	0	KIAA0947	5516259	0.000000	0.05858	0.003000	0.11579	0.562000	0.35680	0.353000	0.20130	1.922000	0.55676	0.254000	0.18369	CAA		0.348	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
FASTKD3	79072	broad.mit.edu	37	5	7861699	7861699	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:7861699T>G	ENST00000264669.5	-	5	1902	c.1766A>C	c.(1765-1767)aAa>aCa	p.K589T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	589					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.K589T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTGTACCTTTTATGGATATC	0.343																																					p.K589T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1766C	5						.						145.0	138.0	141.0					5																	7861699		2203	4300	6503	7914699	SO:0001583	missense	79072	exon5			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1766A>C	5.37:g.7861699T>G	ENSP00000264669:p.Lys589Thr		7914699	NM_024091	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	T	4.745	0.138444	0.09083	.	.	ENSG00000124279	ENST00000264669	T	0.16457	2.34	4.46	2.01	0.26516	.	0.311562	0.33691	N	0.004649	T	0.11367	0.0277	L	0.41415	1.275	0.30713	N	0.749072	B	0.16603	0.018	B	0.14023	0.01	T	0.14392	-1.0474	10	0.28530	T	0.3	.	4.72	0.12913	0.0:0.2313:0.2926:0.4761	.	589	Q14CZ7	FAKD3_HUMAN	T	589	ENSP00000264669:K589T	ENSP00000264669:K589T	K	-	2	0	FASTKD3	7914699	0.997000	0.39634	0.569000	0.28460	0.030000	0.12068	0.301000	0.19174	0.234000	0.21139	0.454000	0.30748	AAA		0.343	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
SEMA5A	9037	broad.mit.edu	37	5	9066581	9066581	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:9066581C>T	ENST00000382496.5	-	17	2916	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	751	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.E751K(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TACCGCATTTCGATTCTCTGT	0.542																																					p.E751K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2251A	5						.						179.0	171.0	174.0					5																	9066581		2203	4300	6503	9119581	SO:0001583	missense	9037	exon17			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2251G>A	5.37:g.9066581C>T	ENSP00000371936:p.Glu751Lys		9119581	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537228	0.96460	.	.	ENSG00000112902	ENST00000382496	T	0.36878	1.23	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.54906	-0.8223	10	0.87932	D	0	.	17.5918	0.87999	0.0:1.0:0.0:0.0	.	751	Q13591	SEM5A_HUMAN	K	751	ENSP00000371936:E751K	ENSP00000371936:E751K	E	-	1	0	SEMA5A	9119581	1.000000	0.71417	0.554000	0.28268	0.830000	0.47004	7.511000	0.81718	2.761000	0.94854	0.591000	0.81541	GAA		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
TAS2R1	50834	broad.mit.edu	37	5	9629596	9629596	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:9629596G>T	ENST00000382492.2	-	1	867	c.549C>A	c.(547-549)ttC>ttA	p.F183L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	183					chemosensory behavior (GO:0007635)|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.F183L(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATGGCACTGAGAACTCAGCAA	0.433																																					p.F183L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C549A	5						.						73.0	81.0	78.0					5																	9629596		2203	4300	6503	9682596	SO:0001583	missense	50834	exon1			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.549C>A	5.37:g.9629596G>T	ENSP00000371932:p.Phe183Leu		9682596	NM_019599	Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	5.914	0.352768	0.11182	.	.	ENSG00000169777	ENST00000382492	T	0.44083	0.93	5.65	-5.4	0.02656	.	1.119980	0.06863	N	0.799468	T	0.13072	0.0317	N	0.02345	-0.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19549	-1.0302	9	.	.	.	.	3.2968	0.06969	0.2645:0.3706:0.2702:0.0947	.	183	Q9NYW7	TA2R1_HUMAN	L	183	ENSP00000371932:F183L	.	F	-	3	2	TAS2R1	9682596	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.527000	0.00946	-0.651000	0.05415	0.655000	0.94253	TTC		0.433	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2		
CDH18	1016	broad.mit.edu	37	5	19721468	19721468	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:19721468C>T	ENST00000507958.1	-	7	1621	c.631G>A	c.(631-633)Gac>Aac	p.D211N	CDH18_ENST00000502796.1_Missense_Mutation_p.D211N|CDH18_ENST00000511273.1_Missense_Mutation_p.D211N|CDH18_ENST00000382275.1_Missense_Mutation_p.D211N|CDH18_ENST00000274170.4_Missense_Mutation_p.D211N|CDH18_ENST00000506372.1_Missense_Mutation_p.D211N			Q13634	CAD18_HUMAN	cadherin 18, type 2	211	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.D211N(1)		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)					GTTTTAGGGTCGACGGAGAAG	0.448																																					p.D211N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	5						.						166.0	147.0	153.0					5																	19721468		2203	4300	6503	19757225	SO:0001583	missense	1016	exon5			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.631G>A	5.37:g.19721468C>T	ENSP00000425093:p.Asp211Asn		19757225	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717611	0.89205	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.76071	0.932;0.987	T	0.66662	-0.5867	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	211;211	B4DHG6;Q13634	.;CAD18_HUMAN	N	211;211;211;211;211;211;157;211	ENSP00000371710:D211N;ENSP00000425093:D211N;ENSP00000274170:D211N;ENSP00000424931:D211N;ENSP00000422138:D211N;ENSP00000427383:D157N;ENSP00000425854:D211N	.	D	-	1	0	CDH18	19757225	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GAC		0.448	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	22078746	22078746	+	Missense_Mutation	SNP	G	G	T	rs574463659		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:22078746G>T	ENST00000382254.1	-	5	1126	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	CDH12_ENST00000504376.2_Missense_Mutation_p.L14M|CDH12_ENST00000522262.1_Missense_Mutation_p.L14M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	14					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.L14M(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						CCATCAAACAGAACCCAGAGA	0.453										HNSCC(59;0.17)																											p.L14M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C40A	5						.						159.0	163.0	162.0					5																	22078746		2203	4300	6503	22114503	SO:0001583	missense	1010	exon5			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.40C>A	5.37:g.22078746G>T	ENSP00000371689:p.Leu14Met		22114503	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255311	0.59321	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.58210	0.42;0.42;0.35	5.67	5.67	0.87782	.	0.314459	0.30890	N	0.008666	T	0.42988	0.1227	N	0.08118	0	0.47407	D	0.999413	P;P	0.52316	0.952;0.952	P;P	0.52267	0.694;0.606	T	0.38824	-0.9643	10	0.34782	T	0.22	.	13.0309	0.58840	0.0733:0.0:0.9267:0.0	.	14;14	B7Z2U6;P55289	.;CAD12_HUMAN	M	14	ENSP00000423577:L14M;ENSP00000371689:L14M;ENSP00000428786:L14M	ENSP00000371689:L14M	L	-	1	2	CDH12	22114503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.280000	0.78610	2.694000	0.91930	0.555000	0.69702	CTG		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
PRDM9	56979	broad.mit.edu	37	5	23509653	23509653	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:23509653A>C	ENST00000296682.3	+	3	326	c.144A>C	c.(142-144)aaA>aaC	p.K48N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	48	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.K48N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACTGGGAGAAAACTCGCTATA	0.438										HNSCC(3;0.000094)																											p.K48N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A144C	5						.						209.0	192.0	197.0					5																	23509653		1876	4119	5995	23545410	SO:0001583	missense	56979	exon3			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.144A>C	5.37:g.23509653A>C	ENSP00000296682:p.Lys48Asn		23545410	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884504	0.51908	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.02944	4.1;4.1	2.93	0.473	0.16763	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.14960	0.0361	M	0.91768	3.24	0.22926	N	0.998554	D	0.76494	0.999	D	0.81914	0.995	T	0.05733	-1.0867	9	0.87932	D	0	-11.0157	4.5923	0.12313	0.6923:0.0:0.3077:0.0	.	48	Q9NQV7	PRDM9_HUMAN	N	48	ENSP00000425471:K48N;ENSP00000296682:K48N	ENSP00000296682:K48N	K	+	3	2	PRDM9	23545410	0.813000	0.29090	0.922000	0.36590	0.928000	0.56348	1.220000	0.32491	0.095000	0.17434	0.496000	0.49642	AAA		0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23521277	23521277	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:23521277G>T	ENST00000296682.3	+	6	679	c.497G>T	c.(496-498)aGa>aTa	p.R166I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	166					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R166I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGCACTCAAGACTAAAACTG	0.453										HNSCC(3;0.000094)																											p.R166I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G497T	5						.						98.0	96.0	97.0					5																	23521277		1832	4087	5919	23557034	SO:0001583	missense	56979	exon6			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.497G>T	5.37:g.23521277G>T	ENSP00000296682:p.Arg166Ile		23557034	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	9.129	1.010932	0.19277	.	.	ENSG00000164256	ENST00000296682	T	0.08807	3.05	3.31	0.287	0.15714	.	.	.	.	.	T	0.05777	0.0151	L	0.36672	1.1	0.09310	N	1	P	0.35982	0.531	B	0.32864	0.154	T	0.34279	-0.9835	9	0.51188	T	0.08	-0.3141	3.2485	0.06806	0.267:0.226:0.507:0.0	.	166	Q9NQV7	PRDM9_HUMAN	I	166	ENSP00000296682:R166I	ENSP00000296682:R166I	R	+	2	0	PRDM9	23557034	0.003000	0.15002	0.000000	0.03702	0.084000	0.17831	1.044000	0.30329	0.044000	0.15775	0.531000	0.56144	AGA		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
CDH9	1007	broad.mit.edu	37	5	26885917	26885917	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:26885917G>A	ENST00000231021.4	-	11	1860	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	563	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.T563I(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						CAATAAGTAGGTGCTCATTTT	0.393																																					p.T563I	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1688T	5						.						69.0	65.0	66.0					5																	26885917		2203	4300	6503	26921674	SO:0001583	missense	1007	exon11			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.1688C>T	5.37:g.26885917G>A	ENSP00000231021:p.Thr563Ile		26921674	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232892	0.39498	.	.	ENSG00000113100	ENST00000231021	T	0.52057	0.68	5.79	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.312513	0.38111	N	0.001819	T	0.30324	0.0761	N	0.21373	0.66	0.36488	D	0.868255	B;B	0.06786	0.0;0.001	B;B	0.15484	0.008;0.013	T	0.18618	-1.0331	9	.	.	.	.	10.1929	0.43037	0.1611:0.0:0.8389:0.0	.	156;563	B4DFP0;Q9ULB4	.;CADH9_HUMAN	I	563	ENSP00000231021:T563I	.	T	-	2	0	CDH9	26921674	0.987000	0.35691	0.999000	0.59377	0.911000	0.54048	1.963000	0.40452	2.740000	0.93945	0.563000	0.77884	ACC		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH9	1007	broad.mit.edu	37	5	26902701	26902701	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:26902701C>A	ENST00000231021.4	-	7	1309	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	379	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.E379D(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						ACACAGGAGGCTCATCTATAT	0.433																																					p.E379D	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1137T	5						.						136.0	130.0	132.0					5																	26902701		2203	4299	6502	26938458	SO:0001583	missense	1007	exon7			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.1137G>T	5.37:g.26902701C>A	ENSP00000231021:p.Glu379Asp		26938458	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711515	0.68730	.	.	ENSG00000113100	ENST00000231021	T	0.54071	0.59	5.62	3.84	0.44239	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.83603	2.65	0.42532	D	0.99304	D	0.89917	1.0	D	0.78314	0.991	T	0.72865	-0.4163	9	.	.	.	.	12.1444	0.54016	0.0:0.786:0.0:0.214	.	379	Q9ULB4	CADH9_HUMAN	D	379	ENSP00000231021:E379D	.	E	-	3	2	CDH9	26938458	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.517000	0.35867	0.334000	0.23590	-0.813000	0.03139	GAG		0.433	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH6	1004	broad.mit.edu	37	5	31317842	31317842	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:31317842C>A	ENST00000265071.2	+	11	1958	c.1693C>A	c.(1693-1695)Ctc>Atc	p.L565I	CDH6_ENST00000514738.1_Missense_Mutation_p.L510I	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	565	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L565I(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGCACCTATCTCTTGCCTGT	0.493																																					p.L565I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1693A	5						.						99.0	87.0	91.0					5																	31317842		2203	4300	6503	31353599	SO:0001583	missense	1004	exon11			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1693C>A	5.37:g.31317842C>A	ENSP00000265071:p.Leu565Ile		31353599	NM_004932	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581221	0.46006	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.50548	0.74;0.74	5.29	4.41	0.53225	Cadherin (4);Cadherin-like (1);	0.385673	0.29646	N	0.011573	T	0.45135	0.1327	M	0.66939	2.045	0.35835	D	0.825627	B;B	0.22746	0.014;0.074	B;B	0.29176	0.03;0.099	T	0.55554	-0.8123	10	0.52906	T	0.07	.	7.1315	0.25504	0.1447:0.7171:0.0:0.1383	.	565;565	P55285;P55285-2	CADH6_HUMAN;.	I	510;565	ENSP00000424843:L510I;ENSP00000265071:L565I	ENSP00000265071:L565I	L	+	1	0	CDH6	31353599	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.918000	0.28678	2.625000	0.88918	0.655000	0.94253	CTC		0.493	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	
MTMR12	54545	broad.mit.edu	37	5	32239265	32239265	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:32239265C>T	ENST00000382142.3	-	13	1356	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	MTMR12_ENST00000264934.5_Missense_Mutation_p.D396N|MTMR12_ENST00000280285.5_Missense_Mutation_p.D396N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	396	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.D396N(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCAGAGGTCGGATGCATTC	0.488																																					p.D396N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186A	5						.						63.0	61.0	62.0					5																	32239265		2203	4300	6503	32275022	SO:0001583	missense	54545	exon13			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1186G>A	5.37:g.32239265C>T	ENSP00000371577:p.Asp396Asn		32275022	NM_001040446	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382238	0.95967	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.96427	-4.01;-4.01;-4.01	5.38	5.38	0.77491	Myotubularin phosphatase domain (1);	0.050416	0.85682	D	0.000000	D	0.98804	0.9597	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.99461	1.0943	10	0.87932	D	0	.	19.4844	0.95024	0.0:1.0:0.0:0.0	.	396;396;396	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	N	396	ENSP00000280285:D396N;ENSP00000371577:D396N;ENSP00000264934:D396N	ENSP00000264934:D396N	D	-	1	0	MTMR12	32275022	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	7.398000	0.79919	2.678000	0.91216	0.557000	0.71058	GAC		0.488	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	
ADAMTS12	81792	broad.mit.edu	37	5	33616038	33616038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:33616038C>T	ENST00000504830.1	-	15	2618	c.2283G>A	c.(2281-2283)tgG>tgA	p.W761*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W676*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	761	Spacer 1.				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.W761*(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						AGTTCCCGTTCCACTGGATAA	0.468										HNSCC(64;0.19)																											p.W761X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2283A	5						.						139.0	130.0	133.0					5																	33616038		2203	4300	6503	33651795	SO:0001587	stop_gained	81792	exon15			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.2283G>A	5.37:g.33616038C>T	ENSP00000422554:p.Trp761*		33651795	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	44	10.873556	0.99481	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.51	5.51	0.81932	.	0.057874	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.015	0.92890	0.0:1.0:0.0:0.0	.	.	.	.	X	761;676	.	ENSP00000344847:W676X	W	-	3	0	ADAMTS12	33651795	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.741000	0.84997	2.558000	0.86282	0.561000	0.74099	TGG		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
RAI14	26064	broad.mit.edu	37	5	34818925	34818925	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:34818925A>C	ENST00000265109.3	+	13	1250	c.963A>C	c.(961-963)gaA>gaC	p.E321D	RAI14_ENST00000503673.1_Missense_Mutation_p.E321D|RAI14_ENST00000515799.1_Missense_Mutation_p.E324D|RAI14_ENST00000428746.2_Missense_Mutation_p.E321D|RAI14_ENST00000512629.1_Missense_Mutation_p.E292D|RAI14_ENST00000397449.1_Missense_Mutation_p.E314D|RAI14_ENST00000506376.1_Missense_Mutation_p.E313D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	321						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E321D(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)					CTATACGAGAAAACAAAGACA	0.338																																					p.E292D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A876C	5						.						131.0	128.0	129.0					5																	34818925		2203	4300	6503	34854682	SO:0001583	missense	26064	exon12			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.963A>C	5.37:g.34818925A>C	ENSP00000265109:p.Glu321Asp		34854682	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161294	0.38119	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.38401	1.23;1.14;1.23;1.23;1.23;1.27;1.26	5.78	0.469	0.16741	.	.	.	.	.	T	0.16041	0.0386	N	0.14661	0.345	0.34101	D	0.661853	B;B;B;B	0.14805	0.002;0.001;0.011;0.001	B;B;B;B	0.14023	0.004;0.002;0.01;0.002	T	0.18587	-1.0332	9	0.27082	T	0.32	-18.8269	1.3445	0.02161	0.5102:0.1037:0.2025:0.1836	.	313;292;324;321	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	D	321;292;321;321;324;313;314	ENSP00000265109:E321D;ENSP00000422377:E292D;ENSP00000388725:E321D;ENSP00000422942:E321D;ENSP00000427123:E324D;ENSP00000423854:E313D;ENSP00000380591:E314D	ENSP00000265109:E321D	E	+	3	2	RAI14	34854682	0.997000	0.39634	0.999000	0.59377	0.987000	0.75469	0.307000	0.19296	0.200000	0.20447	0.482000	0.46254	GAA		0.338	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
AGXT2	64902	broad.mit.edu	37	5	34998837	34998837	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:34998837C>A	ENST00000231420.6	-	14	1732	c.1532G>T	c.(1531-1533)aGa>aTa	p.R511I		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	511					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.R511I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	CTTAGCTCTTCTTTCCATGTG	0.393																																					p.R511I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1532T	5						.						237.0	212.0	220.0					5																	34998837		2203	4300	6503	35034594	SO:0001583	missense	64902	exon14			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1532G>T	5.37:g.34998837C>A	ENSP00000231420:p.Arg511Ile		35034594	NM_031900	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271078	0.40194	.	.	ENSG00000113492	ENST00000231420	D	0.82711	-1.64	5.69	4.64	0.57946	.	0.083210	0.85682	D	0.000000	D	0.87055	0.6082	L	0.60455	1.87	0.80722	D	1	P;D	0.63880	0.856;0.993	B;P	0.60682	0.372;0.878	D	0.87606	0.2500	10	0.72032	D	0.01	-9.339	12.3864	0.55335	0.0:0.9069:0.0:0.0931	.	436;511	E9PDL7;Q9BYV1	.;AGT2_HUMAN	I	511	ENSP00000231420:R511I	ENSP00000231420:R511I	R	-	2	0	AGXT2	35034594	1.000000	0.71417	0.998000	0.56505	0.391000	0.30476	1.204000	0.32296	2.688000	0.91661	0.650000	0.86243	AGA		0.393	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	
SPEF2	79925	broad.mit.edu	37	5	35806920	35806920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:35806920G>T	ENST00000356031.3	+	35	5276	c.5122G>T	c.(5122-5124)Gaa>Taa	p.E1708*	SPEF2_ENST00000440995.2_Nonsense_Mutation_p.E1703*|SPEF2_ENST00000303129.4_Nonsense_Mutation_p.E505*|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1708					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.E1708*(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)			ACAGAAGGATGAAGAAATCCC	0.423																																					p.E1708X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5122T	5						.						82.0	78.0	79.0					5																	35806920		1861	4098	5959	35842677	SO:0001587	stop_gained	79925	exon35			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.5122G>T	5.37:g.35806920G>T	ENSP00000348314:p.Glu1708*		35842677	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	42	9.604629	0.99217	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	.	.	.	5.85	0.264	0.15607	.	1.144190	0.06772	N	0.783617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	6.4914	0.22117	0.2381:0.2481:0.5138:0.0	.	.	.	.	X	1708;1703;505	.	ENSP00000303843:E505X	E	+	1	0	SPEF2	35842677	0.092000	0.21681	0.004000	0.12327	0.857000	0.48899	0.184000	0.16939	0.082000	0.17018	0.655000	0.94253	GAA		0.423	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
UGT3A1	133688	broad.mit.edu	37	5	35957312	35957312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:35957312C>T	ENST00000274278.3	-	5	1410	c.1053G>A	c.(1051-1053)tgG>tgA	p.W351*	UGT3A1_ENST00000503189.1_Nonsense_Mutation_p.W351*|UGT3A1_ENST00000507113.1_Nonsense_Mutation_p.W317*|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	351						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.W351*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGAGGAAGCCAGTCCACAA	0.502																																					p.W351X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1053A	5						.						105.0	90.0	95.0					5																	35957312		2203	4300	6503	35993069	SO:0001587	stop_gained	133688	exon5				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1053G>A	5.37:g.35957312C>T	ENSP00000274278:p.Trp351*		35993069	NM_152404	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Nonsense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	32	5.177894	0.94846	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	.	.	.	3.01	3.01	0.34805	.	0.081962	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5811	0.61903	0.0:1.0:0.0:0.0	.	.	.	.	X	351;351;317	.	ENSP00000274278:W351X	W	-	3	0	UGT3A1	35993069	1.000000	0.71417	0.998000	0.56505	0.231000	0.25187	4.124000	0.57924	1.615000	0.50252	0.467000	0.42956	TGG		0.502	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
RANBP3L	202151	broad.mit.edu	37	5	36257596	36257596	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:36257596G>T	ENST00000296604.3	-	9	1217	c.732C>A	c.(730-732)ttC>ttA	p.F244L	RANBP3L_ENST00000515759.1_Missense_Mutation_p.F244L|RANBP3L_ENST00000502994.1_Missense_Mutation_p.F269L	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	244					intracellular transport (GO:0046907)			p.F244L(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)			GAATGGATTTGAATGGTTTTT	0.313																																					p.F244L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C732A	5						.						97.0	98.0	98.0					5																	36257596		2202	4300	6502	36293353	SO:0001583	missense	202151	exon9			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.732C>A	5.37:g.36257596G>T	ENSP00000296604:p.Phe244Leu		36293353	NM_145000	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295987	0.40594	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	T;T;T	0.24538	1.86;1.85;1.97	5.63	1.93	0.25924	.	0.462744	0.22399	N	0.060571	T	0.25195	0.0612	M	0.64997	1.995	0.27543	N	0.950743	D;D	0.54601	0.967;0.958	P;P	0.47573	0.55;0.549	T	0.18493	-1.0335	10	0.07325	T	0.83	-4.5501	8.3821	0.32477	0.3129:0.0:0.6871:0.0	.	269;244	E9PGP9;Q86VV4	.;RNB3L_HUMAN	L	244;269;244	ENSP00000296604:F244L;ENSP00000421853:F269L;ENSP00000421149:F244L	ENSP00000296604:F244L	F	-	3	2	RANBP3L	36293353	0.991000	0.36638	0.991000	0.47740	0.680000	0.39746	0.897000	0.28390	0.139000	0.18822	-0.218000	0.12543	TTC		0.313	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000	
RANBP3L	202151	broad.mit.edu	37	5	36260940	36260940	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:36260940G>T	ENST00000296604.3	-	8	1096	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	RANBP3L_ENST00000515759.1_Missense_Mutation_p.S204Y|RANBP3L_ENST00000502994.1_Missense_Mutation_p.S229Y	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	204					intracellular transport (GO:0046907)			p.S204Y(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)			GCTTTTAAAAGAACATTTATC	0.269																																					p.S204Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611A	5						.						23.0	23.0	23.0					5																	36260940		2180	4263	6443	36296697	SO:0001583	missense	202151	exon8			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.611C>A	5.37:g.36260940G>T	ENSP00000296604:p.Ser204Tyr		36296697	NM_145000	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	9.678	1.148479	0.21288	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	T;T;T	0.25749	1.87;1.78;1.87	5.27	3.46	0.39613	.	0.620115	0.16094	N	0.229920	T	0.29914	0.0748	M	0.68952	2.095	0.31237	N	0.695689	P;P	0.38992	0.653;0.454	B;B	0.43360	0.417;0.141	T	0.21211	-1.0252	10	0.28530	T	0.3	-9.7019	7.6996	0.28615	0.0892:0.1635:0.7473:0.0	.	229;204	E9PGP9;Q86VV4	.;RNB3L_HUMAN	Y	204;229;204	ENSP00000296604:S204Y;ENSP00000421853:S229Y;ENSP00000421149:S204Y	ENSP00000296604:S204Y	S	-	2	0	RANBP3L	36296697	0.764000	0.28473	0.929000	0.37066	0.384000	0.30261	1.351000	0.34022	0.679000	0.31345	-0.137000	0.14449	TCT		0.269	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000	
NIPBL	25836	broad.mit.edu	37	5	37024792	37024792	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:37024792C>T	ENST00000282516.8	+	30	6179	c.5680C>T	c.(5680-5682)Cgc>Tgc	p.R1894C	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1894C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1894					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.R1894C(2)		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)			AAAAATGATTCGCAGAGTCAA	0.294																																					p.R1894C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5680T	5						.						74.0	75.0	74.0					5																	37024792		2203	4297	6500	37060549	SO:0001583	missense	25836	exon30			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.5680C>T	5.37:g.37024792C>T	ENSP00000282516:p.Arg1894Cys		37060549	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105441	0.77096	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.83914	-1.78;-1.78	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.92294	0.5844	10	0.66056	D	0.02	.	14.503	0.67734	0.1467:0.8533:0.0:0.0	.	1894;1894	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	1894	ENSP00000282516:R1894C;ENSP00000406266:R1894C	ENSP00000282516:R1894C	R	+	1	0	NIPBL	37060549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.394000	0.59671	2.639000	0.89480	0.585000	0.79938	CGC		0.294	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu	37	5	37164388	37164388	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:37164388G>A	ENST00000508244.1	-	36	7668	c.7575C>T	c.(7573-7575)ttC>ttT	p.F2525F	C5orf42_ENST00000425232.2_Silent_p.F2525F|C5orf42_ENST00000274258.7_Silent_p.F1405F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2525						integral component of membrane (GO:0016021)		p.F1405F(1)|p.F2525F(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)			AAGGAACGTCGAAGTCATCCA	0.318																																					p.F2525F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7575T	5						.						132.0	132.0	132.0					5																	37164388		2203	4300	6503	37200145	SO:0001819	synonymous_variant	65250	exon37				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.7575C>T	5.37:g.37164388G>A			37200145	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																				0.318	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37176016	37176016	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:37176016A>C	ENST00000508244.1	-	30	6066	c.5973T>G	c.(5971-5973)atT>atG	p.I1991M	C5orf42_ENST00000425232.2_Missense_Mutation_p.I1991M|C5orf42_ENST00000274258.7_Missense_Mutation_p.I871M			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1991						integral component of membrane (GO:0016021)		p.I1991M(1)|p.I871M(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)			CTTACCTAGAAATTTCTGAAC	0.343																																					p.I1991M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5973G	5						.						161.0	174.0	169.0					5																	37176016		2203	4300	6503	37211773	SO:0001583	missense	65250	exon31				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.5973T>G	5.37:g.37176016A>C	ENSP00000421690:p.Ile1991Met		37211773	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699313	0.68501	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26223	1.76;1.76;1.75;1.75	5.77	2.02	0.26589	.	0.632383	0.14965	N	0.288132	T	0.18341	0.0440	L	0.43152	1.355	0.22811	N	0.998705	B;B	0.33171	0.225;0.4	B;B	0.30029	0.047;0.11	T	0.15122	-1.0448	10	0.51188	T	0.08	.	5.3504	0.16032	0.677:0.1633:0.1597:0.0	.	1991;871	E9PH94;Q9H799	.;CE042_HUMAN	M	1991;1991;871;1039;871	ENSP00000421690:I1991M;ENSP00000389014:I1991M;ENSP00000274258:I871M;ENSP00000424223:I1039M	ENSP00000274258:I871M	I	-	3	3	C5orf42	37211773	0.285000	0.24296	0.993000	0.49108	0.797000	0.45037	0.560000	0.23500	0.106000	0.17784	0.533000	0.62120	ATT		0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37185098	37185098	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:37185098T>G	ENST00000508244.1	-	24	4366	c.4273A>C	c.(4273-4275)Aat>Cat	p.N1425H	C5orf42_ENST00000425232.2_Missense_Mutation_p.N1425H|C5orf42_ENST00000274258.7_Missense_Mutation_p.N306H			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1425						integral component of membrane (GO:0016021)		p.N1425H(1)|p.N306H(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)			GAGCCTATATTTCTCTGCACA	0.423																																					p.N1425H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4273C	5						.						108.0	101.0	103.0					5																	37185098		2203	4300	6503	37220855	SO:0001583	missense	65250	exon25				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.4273A>C	5.37:g.37185098T>G	ENSP00000421690:p.Asn1425His		37220855	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497217	0.85069	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.98	5.98	0.97165	.	0.000000	0.52532	D	0.000065	T	0.74959	0.3785	N	0.24115	0.695	0.37148	D	0.90201	D;D	0.71674	0.995;0.998	D;D	0.67548	0.952;0.952	T	0.80856	-0.1195	10	0.66056	D	0.02	.	16.4728	0.84119	0.0:0.0:0.0:1.0	.	1425;306	E9PH94;Q9H799	.;CE042_HUMAN	H	1425;1425;306;473;306	ENSP00000421690:N1425H;ENSP00000389014:N1425H;ENSP00000274258:N306H;ENSP00000424223:N473H	ENSP00000274258:N306H	N	-	1	0	C5orf42	37220855	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.646000	0.61411	2.296000	0.77279	0.482000	0.46254	AAT		0.423	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37201820	37201820	+	Missense_Mutation	SNP	G	G	A	rs375009168		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:37201820G>A	ENST00000508244.1	-	18	3473	c.3380C>T	c.(3379-3381)tCg>tTg	p.S1127L	C5orf42_ENST00000425232.2_Missense_Mutation_p.S1127L|C5orf42_ENST00000274258.7_Missense_Mutation_p.S8L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1127						integral component of membrane (GO:0016021)		p.S8L(1)|p.S1127L(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)			AAATGTCTCCGAAAGAATATC	0.423																																					p.S1127L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3380T	5						.						106.0	105.0	105.0					5																	37201820		2203	4300	6503	37237577	SO:0001583	missense	65250	exon19				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.3380C>T	5.37:g.37201820G>A	ENSP00000421690:p.Ser1127Leu		37237577	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	36	5.753688	0.96890	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.41400	1.59;1.59;1.0;1.55	5.64	5.64	0.86602	.	0.000000	0.37906	N	0.001896	T	0.52805	0.1757	N	0.19112	0.55	0.49915	D	0.999835	D;D	0.89917	1.0;1.0	D;D	0.77004	0.983;0.989	T	0.57728	-0.7761	10	0.72032	D	0.01	.	19.6985	0.96043	0.0:0.0:1.0:0.0	.	1127;8	E9PH94;Q9H799	.;CE042_HUMAN	L	1127;1127;8;175;8	ENSP00000421690:S1127L;ENSP00000389014:S1127L;ENSP00000274258:S8L;ENSP00000424223:S175L	ENSP00000274258:S8L	S	-	2	0	C5orf42	37237577	1.000000	0.71417	0.611000	0.29010	0.978000	0.69477	9.048000	0.93830	2.669000	0.90835	0.491000	0.48974	TCG		0.423	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	38530697	38530697	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:38530697T>G	ENST00000263409.4	-	2	215	c.53A>C	c.(52-54)aAa>aCa	p.K18T	LIFR_ENST00000453190.2_Missense_Mutation_p.K18T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	18					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.K18T(1)		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)					CCTCATTCTTTTATTGTCCAC	0.388			T	PLAG1	salivary adenoma																																p.K18T	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A53C	5						.						136.0	131.0	133.0					5																	38530697		2203	4300	6503	38566454	SO:0001583	missense	3977	exon2			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.53A>C	5.37:g.38530697T>G	ENSP00000263409:p.Lys18Thr		38566454	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.051949	0.55218	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990;ENST00000511561	T;T;T	0.57107	0.42;0.42;0.73	5.5	0.303	0.15791	.	0.606608	0.15653	N	0.251312	T	0.41696	0.1170	L	0.53249	1.67	0.09310	N	1	B	0.24186	0.099	B	0.19391	0.025	T	0.37776	-0.9691	10	0.72032	D	0.01	-5.4334	4.7373	0.12995	0.0:0.2387:0.1517:0.6096	.	18	P42702	LIFR_HUMAN	T	18	ENSP00000263409:K18T;ENSP00000398368:K18T;ENSP00000426685:K18T	ENSP00000263409:K18T	K	-	2	0	LIFR	38566454	0.000000	0.05858	0.000000	0.03702	0.851000	0.48451	-0.307000	0.08167	-0.096000	0.12329	0.528000	0.53228	AAA		0.388	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
RICTOR	253260	broad.mit.edu	37	5	38962629	38962629	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:38962629C>A	ENST00000357387.3	-	18	1656	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	RICTOR_ENST00000296782.5_Missense_Mutation_p.E542D	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.E542D(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)					ATTCAAGATTCTCTTTATGTT	0.299																																					p.E542D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1626T	5						.						49.0	52.0	51.0					5																	38962629		2199	4275	6474	38998386	SO:0001583	missense	253260	exon18				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.1626G>T	5.37:g.38962629C>A	ENSP00000349959:p.Glu542Asp		38998386	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300865	0.23650	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.38722	1.14;1.12	5.28	3.49	0.39957	.	0.048606	0.85682	D	0.000000	T	0.23492	0.0568	N	0.05467	-0.045	0.42926	D	0.994309	B;P	0.35872	0.012;0.525	B;B	0.36092	0.008;0.217	T	0.12091	-1.0561	10	0.87932	D	0	-14.7244	9.7685	0.40576	0.0:0.7889:0.0:0.2111	.	542;542	Q6R327;Q6R327-3	RICTR_HUMAN;.	D	542	ENSP00000349959:E542D;ENSP00000296782:E542D	ENSP00000296782:E542D	E	-	3	2	RICTOR	38998386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.866000	0.27954	0.717000	0.32145	0.563000	0.77884	GAG		0.299	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
FYB	2533	broad.mit.edu	37	5	39153677	39153677	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:39153677T>G	ENST00000351578.6	-	3	1355	c.1165A>C	c.(1165-1167)Aca>Cca	p.T389P	FYB_ENST00000540520.1_Missense_Mutation_p.T399P|FYB_ENST00000515010.1_Missense_Mutation_p.T389P|FYB_ENST00000512982.1_Missense_Mutation_p.T389P|FYB_ENST00000505428.1_Missense_Mutation_p.T389P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	389	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.T389P(2)|p.T399P(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AGGGAAGTTGTTGAGTAAGAC	0.473																																					p.T389P												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A1165C	5						.						212.0	226.0	221.0					5																	39153677		2062	4200	6262	39189434	SO:0001583	missense	2533	exon3			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1165A>C	5.37:g.39153677T>G	ENSP00000316460:p.Thr389Pro		39189434	NM_199335	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	T	2.380	-0.342336	0.05243	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.25912	1.77;1.77;1.78;1.78;1.77	4.64	0.736	0.18307	.	0.616465	0.16071	N	0.230985	T	0.20536	0.0494	L	0.57536	1.79	0.09310	N	1	P;P	0.49961	0.93;0.838	P;B	0.44860	0.462;0.278	T	0.09707	-1.0662	10	0.25106	T	0.35	-9.7427	1.0918	0.01665	0.1849:0.1085:0.1914:0.5153	.	399;389	B4DLN2;O15117	.;FYB_HUMAN	P	389;389;389;389;399;389	ENSP00000316460:T389P;ENSP00000426346:T389P;ENSP00000425845:T389P;ENSP00000427114:T389P;ENSP00000442840:T399P	ENSP00000316460:T389P	T	-	1	0	FYB	39189434	0.491000	0.26019	0.037000	0.18230	0.028000	0.11728	0.428000	0.21395	0.732000	0.32470	0.459000	0.35465	ACA		0.473	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
C9	735	broad.mit.edu	37	5	39316047	39316047	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:39316047T>G	ENST00000263408.4	-	6	795	c.700A>C	c.(700-702)Aat>Cat	p.N234H	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	234	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.N234H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCATTAAAATTTGATGTCTTC	0.328																																					p.N234H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A700C	5						.						103.0	101.0	101.0					5																	39316047		2202	4300	6502	39351804	SO:0001583	missense	735	exon6				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.700A>C	5.37:g.39316047T>G	ENSP00000263408:p.Asn234His		39351804	NM_001737		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496080	0.26774	.	.	ENSG00000113600	ENST00000263408	T	0.32753	1.44	5.56	1.74	0.24563	Membrane attack complex component/perforin (MACPF) domain (1);	0.373864	0.32002	N	0.006725	T	0.23611	0.0571	L	0.54323	1.7	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.19516	-1.0303	10	0.51188	T	0.08	-12.4376	3.6985	0.08374	0.1327:0.0736:0.1385:0.6552	.	234	P02748	CO9_HUMAN	H	234	ENSP00000263408:N234H	ENSP00000263408:N234H	N	-	1	0	C9	39351804	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.074000	0.14662	0.438000	0.26450	0.533000	0.62120	AAT		0.328	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
CARD6	84674	broad.mit.edu	37	5	40853490	40853490	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:40853490A>C	ENST00000254691.5	+	3	2255	c.2056A>C	c.(2056-2058)Aga>Cga	p.R686R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	686					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.R686R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGGTCAGCAAAGACACAGTCA	0.458																																					p.R686R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2056C	5						.						65.0	73.0	70.0					5																	40853490		2203	4300	6503	40889247	SO:0001819	synonymous_variant	84674	exon3			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2056A>C	5.37:g.40853490A>C			40889247	NM_032587	Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	4.083	0.013357	0.07912	.	.	ENSG00000132357	ENST00000509771	.	.	.	4.35	1.86	0.25419	.	.	.	.	.	T	0.36991	0.0987	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28776	-1.0033	5	0.49607	T	0.09	-0.0447	5.4536	0.16578	0.7182:0.1831:0.0987:0.0	.	.	.	.	N	477	.	ENSP00000439680:K477N	K	+	3	2	CARD6	40889247	0.992000	0.36948	0.006000	0.13384	0.039000	0.13416	2.233000	0.43027	0.201000	0.20466	0.459000	0.35465	AAA		0.458	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
MROH2B	133558	broad.mit.edu	37	5	40999860	40999860	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:40999860G>T	ENST00000399564.4	-	40	4954	c.4504C>A	c.(4504-4506)Ctg>Atg	p.L1502M	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1057M	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1502								p.L1502M(1)									AGGATCCACAGAATTTCCTGG	0.473																																					p.L1502M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4504A	5						.						195.0	194.0	194.0					5																	40999860		1885	4118	6003	41035617	SO:0001583	missense	133558	exon40				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.4504C>A	5.37:g.40999860G>T	ENSP00000382476:p.Leu1502Met		41035617	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659428	0.67586	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.69561	-0.41;-0.41	4.94	4.94	0.65067	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.40908	D	0.000983	T	0.79667	0.4485	M	0.72118	2.19	0.33113	D	0.54083	D	0.76494	0.999	D	0.79108	0.992	D	0.84752	0.0757	10	0.59425	D	0.04	.	13.5438	0.61690	0.0:0.0:1.0:0.0	.	1502	Q7Z745	HTRB2_HUMAN	M	1057;1207;1502	ENSP00000441504:L1057M;ENSP00000382476:L1502M	ENSP00000296803:L1207M	L	-	1	2	HEATR7B2	41035617	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.154000	0.42291	2.566000	0.86566	0.655000	0.94253	CTG		0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
MROH2B	133558	broad.mit.edu	37	5	41017997	41017997	+	Missense_Mutation	SNP	G	G	A	rs368897376		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:41017997G>A	ENST00000399564.4	-	28	3289	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MROH2B_ENST00000506092.2_Missense_Mutation_p.R502C	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	947								p.R947C(1)									GCCGCCTGACGGATGGTGGGC	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18727	0.0		0.0	False		,,,				2504	0.0				p.R947C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2839T	5						.	G	CYS/ARG	1,3825		0,1,1912	40.0	40.0	40.0		2839	5.9	1.0	5		40	0,8254		0,0,4127	no	missense	HEATR7B2	NM_173489.4	180	0,1,6039	AA,AG,GG		0.0,0.0261,0.0083	probably-damaging	947/1586	41017997	1,12079	1913	4127	6040	41053754	SO:0001583	missense	133558	exon28				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.2839C>T	5.37:g.41017997G>A	ENSP00000382476:p.Arg947Cys		41053754	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389960	0.61956	2.61E-4	0.0	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.79247	-1.25;-1.25	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000032	D	0.87704	0.6244	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.88415	0.3024	10	0.87932	D	0	.	15.6856	0.77409	0.0:0.0:1.0:0.0	.	947	Q7Z745	HTRB2_HUMAN	C	502;652;947	ENSP00000441504:R502C;ENSP00000382476:R947C	ENSP00000296803:R652C	R	-	1	0	HEATR7B2	41053754	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	4.722000	0.61958	2.766000	0.95052	0.591000	0.81541	CGT		0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
C6	729	broad.mit.edu	37	5	41149503	41149503	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:41149503C>A	ENST00000263413.3	-	17	2727	c.2463G>T	c.(2461-2463)gaG>gaT	p.E821D	C6_ENST00000337836.5_Missense_Mutation_p.E821D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	821	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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.E821D(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)				TTAAACATTTCTCAGCCAAAA	0.433																																					p.E821D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2463T	5						.						122.0	129.0	127.0					5																	41149503		2203	4300	6503	41185260	SO:0001583	missense	729	exon17			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.2463G>T	5.37:g.41149503C>A	ENSP00000263413:p.Glu821Asp		41185260	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776241	0.31411	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.05996	3.36;3.36	5.97	2.17	0.27698	Proteinase inhibitor I1, Kazal (1);Factor I / membrane attack complex (1);Protease inhibitor, Kazal-type (1);	0.305432	0.39909	N	0.001236	T	0.05777	0.0151	L	0.54323	1.7	0.27488	N	0.952379	B	0.27625	0.183	B	0.28305	0.088	T	0.31336	-0.9947	10	0.17369	T	0.5	-5.9695	4.6561	0.12618	0.0:0.4181:0.1562:0.4257	.	821	P13671	CO6_HUMAN	D	821	ENSP00000338861:E821D;ENSP00000263413:E821D	ENSP00000263413:E821D	E	-	3	2	C6	41185260	0.899000	0.30636	0.898000	0.35279	0.934000	0.57294	0.380000	0.20602	0.838000	0.34948	0.655000	0.94253	GAG		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
FBXO4	26272	broad.mit.edu	37	5	41927139	41927139	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:41927139T>C	ENST00000281623.3	+	2	270	c.214T>C	c.(214-216)Tcc>Ccc	p.S72P	FBXO4_ENST00000509134.1_Missense_Mutation_p.S72P|FBXO4_ENST00000296812.2_Missense_Mutation_p.S72P	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	72	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.S72P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATATATTTTGTCCTTTCTTTC	0.348																																					p.S72P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T214C	5						.						135.0	133.0	134.0					5																	41927139		2203	4300	6503	41962896	SO:0001583	missense	26272	exon2			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.214T>C	5.37:g.41927139T>C	ENSP00000281623:p.Ser72Pro		41962896	NM_012176	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186445	0.78789	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.61980	0.06;0.06;0.06	5.54	5.54	0.83059	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.061993	0.64402	D	0.000005	T	0.77177	0.4092	M	0.78049	2.395	0.51012	D	0.999903	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.966;0.966;0.929	T	0.80127	-0.1512	10	0.87932	D	0	-12.0463	10.8538	0.46786	0.1407:0.0:0.0:0.8593	.	72;72;72	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	P	72	ENSP00000296812:S72P;ENSP00000281623:S72P;ENSP00000421749:S72P	ENSP00000281623:S72P	S	+	1	0	FBXO4	41962896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.481000	0.60250	2.102000	0.63906	0.533000	0.62120	TCC		0.348	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1		
GHR	2690	broad.mit.edu	37	5	42719397	42719397	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:42719397C>T	ENST00000230882.4	+	10	1978	c.1788C>T	c.(1786-1788)acC>acT	p.T596T	GHR_ENST00000357703.3_Silent_p.T574T|GHR_ENST00000537449.1_Silent_p.T409T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	596					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.T596T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGACTATACCTCCATTCATA	0.507																																					p.T596T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1788T	5						.						96.0	86.0	89.0					5																	42719397		2203	4300	6503	42755154	SO:0001819	synonymous_variant	2690	exon10				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1788C>T	5.37:g.42719397C>T			42755154	NM_000163	Q9HCX2	Silent	SNP	ENST00000230882.4	37	CCDS3940.1																																																																																				0.507	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163	
NIM1K	167359	broad.mit.edu	37	5	43280635	43280635	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:43280635G>A	ENST00000512796.1	+	4	2614	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	NIM1_ENST00000326035.2_Missense_Mutation_p.R372Q			Q8IY84	NIM1_HUMAN		372					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R372Q(1)									GAGCATATTCGAAATAACCAA	0.423																																					p.R372Q												MGC42105,large_intestine,NS,Substitution - Nonsense,+1 	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1115A	5						.						72.0	74.0	73.0					5																	43280635		2203	4300	6503	43316392	SO:0001583	missense	167359	exon4																														ENST00000512796.1:c.1115G>A	5.37:g.43280635G>A	ENSP00000420849:p.Arg372Gln		43316392	NM_153361	B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891184	0.17613	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.71103	-0.54;-0.54	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.188483	0.37809	N	0.001927	T	0.48926	0.1527	N	0.24115	0.695	0.28770	N	0.900438	B	0.17852	0.024	B	0.06405	0.002	T	0.36841	-0.9731	10	0.09590	T	0.72	.	5.8111	0.18467	0.1152:0.0:0.6962:0.1885	.	372	Q8IY84	NIM1_HUMAN	Q	372	ENSP00000313572:R372Q;ENSP00000420849:R372Q	ENSP00000313572:R372Q	R	+	2	0	AC114947.1	43316392	0.976000	0.34144	0.973000	0.42090	0.940000	0.58332	3.807000	0.55591	2.642000	0.89623	0.655000	0.94253	CGA		0.423	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
HCN1	348980	broad.mit.edu	37	5	45262822	45262822	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:45262822A>C	ENST00000303230.4	-	8	1931	c.1874T>G	c.(1873-1875)aTt>aGt	p.I625S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	625					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.I625S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGTTTCACAATCTGCTTGAG	0.443																																					p.I625S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1874G	5						.						141.0	122.0	128.0					5																	45262822		2203	4300	6503	45298579	SO:0001583	missense	348980	exon8			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1874T>G	5.37:g.45262822A>C	ENSP00000307342:p.Ile625Ser		45298579	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547408	0.65311	.	.	ENSG00000164588	ENST00000303230	D	0.84298	-1.83	6.16	6.16	0.99307	.	0.080057	0.51477	D	0.000083	D	0.88749	0.6521	M	0.64997	1.995	0.58432	D	0.999999	D	0.56968	0.978	P	0.52823	0.71	D	0.89636	0.3859	10	0.72032	D	0.01	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	625	O60741	HCN1_HUMAN	S	625	ENSP00000307342:I625S	ENSP00000307342:I625S	I	-	2	0	HCN1	45298579	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	ATT		0.443	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HCN1	348980	broad.mit.edu	37	5	45267196	45267196	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:45267196C>T	ENST00000303230.4	-	7	1835	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	593					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R593Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTACCTATTCGATCTAGTCG	0.413																																					p.R593Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1778A	5						.						128.0	121.0	124.0					5																	45267196		2203	4300	6503	45302953	SO:0001583	missense	348980	exon7			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1778G>A	5.37:g.45267196C>T	ENSP00000307342:p.Arg593Gln		45302953	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953056	0.92660	.	.	ENSG00000164588	ENST00000303230	T	0.55760	0.5	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000009	T	0.53384	0.1793	M	0.72894	2.215	0.80722	D	1	P	0.46457	0.878	B	0.34590	0.186	T	0.63382	-0.6650	10	0.72032	D	0.01	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	593	O60741	HCN1_HUMAN	Q	593	ENSP00000307342:R593Q	ENSP00000307342:R593Q	R	-	2	0	HCN1	45302953	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.813000	0.96785	0.655000	0.94253	CGA		0.413	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HCN1	348980	broad.mit.edu	37	5	45303896	45303896	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:45303896A>C	ENST00000303230.4	-	6	1480	c.1423T>G	c.(1423-1425)Tta>Gta	p.L475V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	475					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L475V(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTAGCAAATAAAGGCATTGTA	0.388																																					p.L475V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1423G	5						.						110.0	113.0	112.0					5																	45303896		2203	4300	6503	45339653	SO:0001583	missense	348980	exon6			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1423T>G	5.37:g.45303896A>C	ENSP00000307342:p.Leu475Val		45339653	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.421003	0.62622	.	.	ENSG00000164588	ENST00000303230	D	0.97455	-4.39	5.62	4.72	0.59763	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.53938	D	0.000046	D	0.96568	0.8880	M	0.73753	2.245	0.52501	D	0.999953	P	0.36990	0.577	B	0.40506	0.331	D	0.96571	0.9423	10	0.72032	D	0.01	.	14.7525	0.69536	0.0704:0.0:0.9296:0.0	.	475	O60741	HCN1_HUMAN	V	475	ENSP00000307342:L475V	ENSP00000307342:L475V	L	-	1	2	HCN1	45339653	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.356000	0.52269	1.500000	0.48636	-0.177000	0.13119	TTA		0.388	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
ITGA1	3672	broad.mit.edu	37	5	52218661	52218661	+	Missense_Mutation	SNP	G	G	A	rs150059220		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:52218661G>A	ENST00000282588.6	+	18	2805	c.2347G>A	c.(2347-2349)Gat>Aat	p.D783N		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	783					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.D783N(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAATCTTACCGATCCAGAAAA	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		20944	0.0		0.001	False		,,,				2504	0.0				p.D783N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2347A	5						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	139.0	134.0	136.0		2347	5.2	1.0	5	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA1	NM_181501.1	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	783/1180	52218661	2,13004	2203	4300	6503	52254418	SO:0001583	missense	3672	exon18			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2347G>A	5.37:g.52218661G>A	ENSP00000282588:p.Asp783Asn		52254418	NM_181501	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.62	1.401164	0.25291	2.27E-4	1.16E-4	ENSG00000213949	ENST00000282588	T	0.46063	0.88	6.03	5.16	0.70880	Integrin alpha-2 (1);	0.154540	0.56097	N	0.000025	T	0.28366	0.0701	N	0.17379	0.485	0.58432	D	0.999999	B	0.18741	0.03	B	0.19946	0.027	T	0.06463	-1.0825	10	0.17369	T	0.5	.	15.1629	0.72798	0.0671:0.0:0.9329:0.0	.	783	P56199	ITA1_HUMAN	N	783	ENSP00000282588:D783N	ENSP00000282588:D783N	D	+	1	0	ITGA1	52254418	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	4.891000	0.63185	1.570000	0.49709	0.555000	0.69702	GAT		0.358	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
GZMK	3003	broad.mit.edu	37	5	54327310	54327310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:54327310C>A	ENST00000231009.2	+	4	552	c.482C>A	c.(481-483)tCa>tAa	p.S161*	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S161*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GATCCAGATTCATTAAGACCT	0.453																																					p.S161X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C482A	5						.						91.0	92.0	92.0					5																	54327310		2203	4300	6503	54363067	SO:0001587	stop_gained	3003	exon4			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.482C>A	5.37:g.54327310C>A	ENSP00000231009:p.Ser161*		54363067	NM_002104	B2R563	Nonsense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	C	3.239	-0.155851	0.06544	.	.	ENSG00000113088	ENST00000231009	.	.	.	5.16	-8.6	0.00889	.	6.182370	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	0.6601	0.00841	0.2712:0.2571:0.2747:0.197	.	.	.	.	X	161	.	ENSP00000231009:S161X	S	+	2	0	GZMK	54363067	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.681000	0.01937	-1.232000	0.02554	-1.152000	0.01820	TCA		0.453	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	
CDC20B	166979	broad.mit.edu	37	5	54436157	54436157	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:54436157C>T	ENST00000381375.2	-	5	710	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	CDC20B_ENST00000331730.3_Missense_Mutation_p.E168K|CDC20B_ENST00000322374.6_Missense_Mutation_p.E189K|CDC20B_ENST00000296733.1_Missense_Mutation_p.E189K|CDC20B_ENST00000334206.5_Missense_Mutation_p.E189K			Q86Y33	CD20B_HUMAN	cell division cycle 20B	189								p.E189K(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAAACACATTCGGATTGCTCA	0.398																																					p.E189K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G565A	5						.						110.0	92.0	98.0					5																	54436157		2203	4300	6503	54471914	SO:0001583	missense	166979	exon5			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.565G>A	5.37:g.54436157C>T	ENSP00000370781:p.Glu189Lys		54471914	NM_001170402	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450082	0.43531	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.16897	3.18;3.18;3.18;3.18;2.31	4.45	2.44	0.29823	.	0.640309	0.13741	N	0.365955	T	0.05686	0.0149	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.17667	0.023;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.001;0.0;0.0	T	0.41858	-0.9485	10	0.06757	T	0.87	-15.7977	6.5498	0.22427	0.0:0.1693:0.4394:0.3912	.	189;189;189;189	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	K	189;189;189;189;168	ENSP00000335664:E189K;ENSP00000296733:E189K;ENSP00000370781:E189K;ENSP00000315720:E189K;ENSP00000330566:E168K	ENSP00000296733:E189K	E	-	1	0	CDC20B	54471914	0.442000	0.25633	0.529000	0.27951	0.594000	0.36715	0.516000	0.22817	0.504000	0.28082	-0.127000	0.14921	GAA		0.398	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	
SKIV2L2	23517	broad.mit.edu	37	5	54603958	54603958	+	Silent	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:54603958G>C	ENST00000230640.5	+	1	371	c.117G>C	c.(115-117)ggG>ggC	p.G39G	SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_Missense_Mutation_p.V7L|DHX29_ENST00000251636.5_5'Flank	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	39					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.G39G(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)				GGCCTCCAGGGTCTGCAGACA	0.507																																					p.G39G	Melanoma(2;92 134 23744 29976 33782)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G117C	5						.						66.0	68.0	68.0					5																	54603958		2203	4300	6503	54639715	SO:0001819	synonymous_variant	23517	exon1			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.117G>C	5.37:g.54603958G>C			54639715	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481352	0.26598	.	.	ENSG00000039123	ENST00000545714	T	0.29142	1.58	5.36	2.57	0.30868	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.28332	-1.0047	8	0.23891	T	0.37	-4.0127	5.6388	0.17552	0.1677:0.3082:0.5241:0.0	.	7	F5H7E2	.	L	7	ENSP00000442583:V7L	ENSP00000442583:V7L	V	+	1	0	SKIV2L2	54639715	0.767000	0.28508	0.977000	0.42913	0.991000	0.79684	0.577000	0.23758	0.373000	0.24621	0.561000	0.74099	GTC		0.507	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
SLC38A9	153129	broad.mit.edu	37	5	54945045	54945045	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:54945045A>C	ENST00000396865.2	-	11	1641	c.1050T>G	c.(1048-1050)ttT>ttG	p.F350L	SLC38A9_ENST00000416547.2_Missense_Mutation_p.F226L|SLC38A9_ENST00000512595.1_Intron|SLC38A9_ENST00000515629.1_Missense_Mutation_p.F287L|SLC38A9_ENST00000318672.3_Missense_Mutation_p.F350L|SLC38A9_ENST00000539768.1_Missense_Mutation_p.F350L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	350					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.F350L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CTGGTACAAAAAATTCTGTTG	0.308																																					p.F350L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1050G	5						.						37.0	38.0	37.0					5																	54945045		2202	4300	6502	54980802	SO:0001583	missense	153129	exon11				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1050T>G	5.37:g.54945045A>C	ENSP00000380074:p.Phe350Leu		54980802	NM_173514	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663601	0.47572	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000511233	T;T;T;T;T;T	0.44083	1.95;1.95;0.93;1.97;1.99;1.61	5.45	4.29	0.51040	.	0.090366	0.85682	D	0.000000	T	0.36524	0.0970	M	0.67953	2.075	0.53688	D	0.999977	B	0.10296	0.003	B	0.10450	0.005	T	0.13845	-1.0494	10	0.12766	T	0.61	-0.7804	8.33	0.32180	0.8459:0.0:0.1541:0.0	.	350	Q8NBW4	S38A9_HUMAN	L	350;350;350;287;226;265	ENSP00000380074:F350L;ENSP00000316596:F350L;ENSP00000437771:F350L;ENSP00000420934:F287L;ENSP00000397429:F226L;ENSP00000423219:F265L	ENSP00000316596:F350L	F	-	3	2	SLC38A9	54980802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.695000	0.47043	0.916000	0.36871	0.460000	0.39030	TTT		0.308	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514	
DDX4	54514	broad.mit.edu	37	5	55111171	55111171	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:55111171G>A	ENST00000505374.1	+	21	2109	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	DDX4_ENST00000514278.2_Missense_Mutation_p.E653K|DDX4_ENST00000511853.1_Missense_Mutation_p.E524K|DDX4_ENST00000353507.5_Missense_Mutation_p.E639K|DDX4_ENST00000354991.5_Missense_Mutation_p.E639K	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	673	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.E673K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGGTTGGAAGAAATTGCCTT	0.338																																					p.E653K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1957A	5						.						140.0	136.0	137.0					5																	55111171		2203	4300	6503	55146928	SO:0001583	missense	54514	exon20			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.2017G>A	5.37:g.55111171G>A	ENSP00000424838:p.Glu673Lys		55146928	NM_001166533	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951168	0.73787	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.42	5.42	0.78866	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	N	0.04724	-0.175	0.50813	D	0.999898	B;B;B	0.22851	0.076;0.008;0.058	B;B;B	0.26614	0.071;0.042;0.022	T	0.82063	-0.0643	10	0.72032	D	0.01	-13.9087	19.2098	0.93749	0.0:0.0:1.0:0.0	.	524;639;673	E9PCD8;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	K	639;653;673;639;524	ENSP00000334167:E639K;ENSP00000425359:E653K;ENSP00000424838:E673K;ENSP00000347087:E639K;ENSP00000423123:E524K	ENSP00000334167:E639K	E	+	1	0	DDX4	55146928	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.701000	0.74624	2.528000	0.85240	0.563000	0.77884	GAA		0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	
MIER3	166968	broad.mit.edu	37	5	56219166	56219166	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:56219166C>A	ENST00000381199.3	-	13	1452	c.1442G>T	c.(1441-1443)aGa>aTa	p.R481I	MIER3_ENST00000381213.3_Missense_Mutation_p.R480I|MIER3_ENST00000409421.1_Missense_Mutation_p.R418I|MIER3_ENST00000381226.3_Missense_Mutation_p.R486I|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R480I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CATTTTCAATCTTTTTGCTGG	0.398																																					p.R480I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1439T	5						.						114.0	114.0	114.0					5																	56219166		2203	4300	6503	56254923	SO:0001583	missense	166968	exon13			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1442G>T	5.37:g.56219166C>A	ENSP00000370596:p.Arg481Ile		56254923	NM_152622	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.061173	0.76187	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.64	5.64	0.86602	.	0.140230	0.64402	D	0.000005	T	0.76328	0.3972	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.85130	0.986;0.997;0.997	T	0.77659	-0.2505	10	0.87932	D	0	-1.6647	19.7055	0.96070	0.0:1.0:0.0:0.0	.	481;486;480	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	I	486;480;481;418	ENSP00000370624:R486I;ENSP00000370611:R480I;ENSP00000370596:R481I;ENSP00000386584:R418I	ENSP00000370596:R481I	R	-	2	0	MIER3	56254923	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.410000	0.80065	2.670000	0.90874	0.591000	0.81541	AGA		0.398	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	
ACTBL2	345651	broad.mit.edu	37	5	56778419	56778419	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:56778419G>T	ENST00000423391.1	-	1	217	c.116C>A	c.(115-117)cCt>cAt	p.P39H	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	39						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P39H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CTGGTGTCGAGGACGCCCTAT	0.587																																					p.P39H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C116A	5						.						86.0	60.0	69.0					5																	56778419		2203	4300	6503	56814176	SO:0001583	missense	345651	exon1				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.116C>A	5.37:g.56778419G>T	ENSP00000416706:p.Pro39His		56814176	NM_001017992	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377289	0.42105	.	.	ENSG00000169067	ENST00000423391	D	0.92249	-3.0	5.16	4.29	0.51040	.	0.000000	0.64402	D	0.000005	D	0.96549	0.8874	M	0.93016	3.37	0.50467	D	0.999873	D	0.89917	1.0	D	0.91635	0.999	D	0.96858	0.9630	10	0.87932	D	0	.	11.4473	0.50131	0.0872:0.0:0.9128:0.0	.	39	Q562R1	ACTBL_HUMAN	H	39	ENSP00000416706:P39H	ENSP00000416706:P39H	P	-	2	0	ACTBL2	56814176	1.000000	0.71417	0.987000	0.45799	0.908000	0.53690	7.789000	0.85783	1.399000	0.46721	0.563000	0.77884	CCT		0.587	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
PLK2	10769	broad.mit.edu	37	5	57752402	57752402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:57752402C>A	ENST00000274289.3	-	9	1471	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	391					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.E391*(1)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCTTCATCTTCTTTAGACACT	0.368																																					p.E391X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1171T	5						.						180.0	168.0	172.0					5																	57752402		2203	4300	6503	57788159	SO:0001587	stop_gained	10769	exon9				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1171G>T	5.37:g.57752402C>A	ENSP00000274289:p.Glu391*		57788159	NM_006622	O60679|Q96CV7|Q9UE61	Nonsense_Mutation	SNP	ENST00000274289.3	37	CCDS3974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.299991|9.299991	0.99130|0.99130	.|.	.|.	ENSG00000145632|ENSG00000145632	ENST00000274289|ENST00000442330	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69424	.|0.3109	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59757	.|-0.7394	.|4	0.39692|0.17832	T|T	0.17|0.49	-22.4887|-22.4887	20.4192|20.4192	0.99033|0.99033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	391|376	.|.	ENSP00000274289:E391X|ENSP00000401861:K376N	E|K	-|-	1|3	0|2	PLK2|PLK2	57788159|57788159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.456000|7.456000	0.80751|0.80751	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.368	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
HTR1A	3350	broad.mit.edu	37	5	63256804	63256804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:63256804G>A	ENST00000323865.3	-	1	976	c.743C>T	c.(742-744)cCg>cTg	p.P248L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	248					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.P248L(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)	CTTGGGCTGCGGGGCGGGAGA	0.642																																					p.P248L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743T	5						.						56.0	58.0	57.0					5																	63256804		2203	4300	6503	63292560	SO:0001583	missense	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.743C>T	5.37:g.63256804G>A	ENSP00000316244:p.Pro248Leu		63292560	NM_000524	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.253447	0.01457	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.48	0.506	0.16961	GPCR, rhodopsin-like superfamily (1);	0.847649	0.10507	N	0.666591	T	0.34424	0.0897	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17410	-1.0370	10	0.22109	T	0.4	.	5.3807	0.16189	0.0646:0.2278:0.4722:0.2354	.	248	P08908	5HT1A_HUMAN	L	248	ENSP00000316244:P248L	ENSP00000316244:P248L	P	-	2	0	HTR1A	63292560	0.003000	0.15002	0.010000	0.14722	0.263000	0.26337	1.233000	0.32648	-0.208000	0.10171	-0.169000	0.13324	CCG		0.642	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
RNF180	285671	broad.mit.edu	37	5	63509461	63509461	+	Missense_Mutation	SNP	C	C	A	rs148499067		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:63509461C>A	ENST00000389100.4	+	4	380	c.308C>A	c.(307-309)cCa>cAa	p.P103Q	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.P103Q	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	103					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.P103Q(2)		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)		GTCAGCACTCCAAAATGTTCC	0.468																																					p.P103Q												.	.	2	Substitution - Missense(2)	lung(2)	c.C308A	5						.						136.0	148.0	144.0					5																	63509461		2203	4300	6503	63545217	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.308C>A	5.37:g.63509461C>A	ENSP00000373752:p.Pro103Gln		63545217	NM_178532	Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906017	0.33628	.	.	ENSG00000164197	ENST00000296615;ENST00000389100;ENST00000504296	T	0.40756	1.02	6.08	5.17	0.71159	.	0.358195	0.31747	N	0.007136	T	0.45478	0.1344	L	0.39898	1.24	0.80722	D	1	D;D	0.63880	0.987;0.993	P;D	0.65010	0.571;0.931	T	0.29761	-1.0001	10	0.17832	T	0.49	-11.0897	6.0689	0.19877	0.1402:0.6518:0.1354:0.0726	.	103;103	Q86T96;Q86T96-2	RN180_HUMAN;.	Q	103	ENSP00000373752:P103Q	ENSP00000296615:P103Q	P	+	2	0	RNF180	63545217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.749000	0.26320	2.890000	0.99128	0.655000	0.94253	CCA		0.468	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532	
RNF180	285671	broad.mit.edu	37	5	63509596	63509596	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:63509596A>G	ENST00000389100.4	+	4	515	c.443A>G	c.(442-444)gAc>gGc	p.D148G	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.D148G	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	148					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.D148G(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)		TCAGGTTGTGACAAGGAAGCT	0.458																																					p.D148G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A443G	5						.						103.0	106.0	105.0					5																	63509596		2203	4300	6503	63545352	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.443A>G	5.37:g.63509596A>G	ENSP00000373752:p.Asp148Gly		63545352	NM_178532	Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727371	0.30593	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.45668	0.89	5.99	4.84	0.62591	.	0.420615	0.27100	N	0.020936	T	0.36358	0.0964	L	0.57536	1.79	0.80722	D	1	B;P	0.38078	0.278;0.617	B;B	0.33960	0.057;0.173	T	0.33214	-0.9877	10	0.54805	T	0.06	-9.4583	9.6865	0.40103	0.867:0.0:0.133:0.0	.	148;148	Q86T96;Q86T96-2	RN180_HUMAN;.	G	148	ENSP00000373752:D148G	ENSP00000296615:D148G	D	+	2	0	RNF180	63545352	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.589000	0.36644	2.292000	0.77174	0.533000	0.62120	GAC		0.458	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532	
TRIM23	373	broad.mit.edu	37	5	64893000	64893000	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:64893000C>T	ENST00000231524.9	-	8	1558	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	TRIM23_ENST00000381018.3_Missense_Mutation_p.R396Q|TRIM23_ENST00000274327.7_Missense_Mutation_p.R396Q	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	396	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R396Q(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATGTGAACTCGATTATCCTA	0.318																																					p.R396Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1187A	5						.						83.0	81.0	82.0					5																	64893000		2203	4300	6503	64928756	SO:0001583	missense	373	exon8			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1187G>A	5.37:g.64893000C>T	ENSP00000231524:p.Arg396Gln		64928756	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319483	0.95682	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.74106	-0.75;-0.74;-0.81	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.996	D	0.84563	0.0651	10	0.66056	D	0.02	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	396;396;396	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	Q	396	ENSP00000231524:R396Q;ENSP00000370406:R396Q;ENSP00000274327:R396Q	ENSP00000231524:R396Q	R	-	2	0	TRIM23	64928756	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	CGA		0.318	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
TRIM23	373	broad.mit.edu	37	5	64905248	64905248	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:64905248C>T	ENST00000231524.9	-	6	1237	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TRIM23_ENST00000381018.3_Missense_Mutation_p.R289Q|TRIM23_ENST00000274327.7_Missense_Mutation_p.R289Q|TRIM23_ENST00000508808.1_5'UTR	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	289					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R289Q(3)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AAAATAAGCTCGAATACATGA	0.353																																					p.R289Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G866A	5						.						85.0	78.0	80.0					5																	64905248		2203	4300	6503	64941004	SO:0001583	missense	373	exon6			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.866G>A	5.37:g.64905248C>T	ENSP00000231524:p.Arg289Gln		64941004	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540007	0.96474	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.74632	-0.78;-0.78;-0.86	5.39	5.39	0.77823	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.61703	1.905	0.80722	D	1	D;D;D	0.61697	0.957;0.99;0.975	B;P;B	0.46718	0.246;0.525;0.427	T	0.80216	-0.1474	10	0.56958	D	0.05	.	19.5154	0.95162	0.0:1.0:0.0:0.0	.	289;289;289	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	Q	289	ENSP00000231524:R289Q;ENSP00000370406:R289Q;ENSP00000274327:R289Q	ENSP00000231524:R289Q	R	-	2	0	TRIM23	64941004	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.685000	0.91497	0.655000	0.94253	CGA		0.353	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
TRIM23	373	broad.mit.edu	37	5	64910017	64910017	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:64910017T>G	ENST00000231524.9	-	3	645	c.274A>C	c.(274-276)Aat>Cat	p.N92H	TRIM23_ENST00000381018.3_Missense_Mutation_p.N92H|TRIM23_ENST00000274327.7_Missense_Mutation_p.N92H	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	92					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N92H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AAAGCAAAATTTTTTTTCAAT	0.353																																					p.N92H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A274C	5						.						98.0	104.0	102.0					5																	64910017		2203	4300	6503	64945773	SO:0001583	missense	373	exon3			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.274A>C	5.37:g.64910017T>G	ENSP00000231524:p.Asn92His		64945773	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479742	0.84747	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.95069	-3.6;-3.6;-3.6	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.97632	0.9224	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.98616	1.0665	10	0.87932	D	0	.	15.1455	0.72647	0.0:0.0:0.0:1.0	.	92;92;92	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	H	92	ENSP00000231524:N92H;ENSP00000370406:N92H;ENSP00000274327:N92H	ENSP00000231524:N92H	N	-	1	0	TRIM23	64945773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.384000	0.79751	1.985000	0.57927	0.477000	0.44152	AAT		0.353	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
ERBB2IP	55914	broad.mit.edu	37	5	65349675	65349675	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:65349675T>C	ENST00000284037.5	+	21	2918	c.2529T>C	c.(2527-2529)tgT>tgC	p.C843C	ERBB2IP_ENST00000380939.2_Silent_p.C843C|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Silent_p.C843C|ERBB2IP_ENST00000380943.2_Silent_p.C843C|ERBB2IP_ENST00000380935.1_Silent_p.C843C|ERBB2IP_ENST00000508515.1_Silent_p.C843C|ERBB2IP_ENST00000380936.1_Silent_p.C843C|ERBB2IP_ENST00000511297.1_Silent_p.C839C|ERBB2IP_ENST00000380938.2_Silent_p.C843C	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	843					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.C843C(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)		ACAGTGATTGTTCTGTTGACT	0.393																																					p.C843C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2529C	5						.						96.0	97.0	97.0					5																	65349675		2203	4300	6503	65385431	SO:0001819	synonymous_variant	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.2529T>C	5.37:g.65349675T>C			65385431	NM_018695	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	CCDS58953.1																																																																																				0.393	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
CD180	4064	broad.mit.edu	37	5	66479600	66479600	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:66479600C>A	ENST00000256447.4	-	3	1228	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	357					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K357N(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTGAAGTTTCTTCACGTTGC	0.433																																					p.K357N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1071T	5						.						110.0	105.0	107.0					5																	66479600		2203	4300	6503	66515356	SO:0001583	missense	4064	exon3			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1071G>T	5.37:g.66479600C>A	ENSP00000256447:p.Lys357Asn		66515356	NM_005582	B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	C	2.618	-0.289307	0.05605	.	.	ENSG00000134061	ENST00000256447	T	0.58060	0.36	4.94	-0.341	0.12639	.	0.793468	0.11464	N	0.561440	T	0.28267	0.0698	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.16808	-1.0390	10	0.17369	T	0.5	.	2.191	0.03899	0.1178:0.4272:0.115:0.34	.	357	Q99467	CD180_HUMAN	N	357	ENSP00000256447:K357N	ENSP00000256447:K357N	K	-	3	2	CD180	66515356	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.040000	0.03546	0.010000	0.14839	0.655000	0.94253	AAG		0.433	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	
PIK3R1	5295	broad.mit.edu	37	5	67522657	67522657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:67522657G>T	ENST00000521381.1	+	2	770	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.E52*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.E52*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.E52*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	52	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E52*(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGCCTGAAGAAATTGGCTG	0.438			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																											p.E52X			Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	.	.	2	Substitution - Nonsense(1)|Whole gene deletion(1)	large_intestine(2)	c.G154T	5						.						52.0	58.0	56.0					5																	67522657		2203	4300	6503	67558413	SO:0001587	stop_gained	5295	exon1			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.154G>T	5.37:g.67522657G>T	ENSP00000428056:p.Glu52*		67558413	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	36	5.666012	0.96745	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335	.	.	.	5.93	5.93	0.95920	.	0.187169	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.5111	15.7836	0.78286	0.0:0.1354:0.8646:0.0	.	.	.	.	X	52	.	ENSP00000274335:E52X	E	+	1	0	PIK3R1	67558413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.311000	0.65786	2.815000	0.96918	0.561000	0.74099	GAA		0.438	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
BDP1	55814	broad.mit.edu	37	5	70805959	70805959	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:70805959G>A	ENST00000358731.4	+	17	3303	c.3040G>A	c.(3040-3042)Gca>Aca	p.A1014T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1014	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A1014T(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATTTGAACGCAACTGGAAG	0.428																																					p.A1014T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G3040A	5						.						75.0	76.0	76.0					5																	70805959		1846	4086	5932	70841715	SO:0001583	missense	55814	exon17			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3040G>A	5.37:g.70805959G>A	ENSP00000351575:p.Ala1014Thr		70841715	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762488	0.31228	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19669	2.13	3.48	1.29	0.21616	.	1.180230	0.06697	N	0.770669	T	0.05868	0.0153	N	0.02539	-0.55	0.80722	D	1	P;P;B	0.36660	0.564;0.564;0.057	B;B;B	0.23852	0.049;0.049;0.013	T	0.32693	-0.9897	10	0.15066	T	0.55	.	3.8687	0.09027	0.1438:0.0:0.6328:0.2234	.	1014;1014;1014	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	T	1014;594	ENSP00000351575:A1014T	ENSP00000351575:A1014T	A	+	1	0	BDP1	70841715	0.000000	0.05858	0.829000	0.32907	0.168000	0.22595	0.077000	0.14738	0.307000	0.22880	0.305000	0.20034	GCA		0.428	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
MAP1B	4131	broad.mit.edu	37	5	71495320	71495320	+	Missense_Mutation	SNP	G	G	T	rs115914542	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:71495320G>T	ENST00000296755.7	+	5	6436	c.6138G>T	c.(6136-6138)gaG>gaT	p.E2046D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2046					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.E2046D(2)		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)		AGACTGCAGAGAAAATCACTA	0.458																																					p.E2046D	Melanoma(17;367 822 11631 31730 47712)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6138T	5						.						117.0	129.0	125.0					5																	71495320		2203	4300	6503	71531076	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.6138G>T	5.37:g.71495320G>T	ENSP00000296755:p.Glu2046Asp		71531076	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261966	0.23051	.	.	ENSG00000131711	ENST00000296755	T	0.03580	3.88	5.68	3.89	0.44902	.	0.000000	0.64402	D	0.000003	T	0.02380	0.0073	N	0.08118	0	0.38398	D	0.945586	B;B	0.15141	0.012;0.012	B;B	0.16722	0.016;0.016	T	0.52155	-0.8613	10	0.37606	T	0.19	-17.3826	10.4734	0.44650	0.0689:0.0:0.7961:0.1349	.	1920;2046	A2BDK6;P46821	.;MAP1B_HUMAN	D	2046	ENSP00000296755:E2046D	ENSP00000296755:E2046D	E	+	3	2	MAP1B	71531076	1.000000	0.71417	0.926000	0.36857	0.841000	0.47740	1.325000	0.33724	1.399000	0.46721	0.655000	0.94253	GAG		0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
TNPO1	3842	broad.mit.edu	37	5	72161492	72161492	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:72161492C>T	ENST00000337273.5	+	6	958	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	TNPO1_ENST00000506351.2_Missense_Mutation_p.R170C|TNPO1_ENST00000454282.1_Missense_Mutation_p.R128C|TNPO1_ENST00000447967.2_Intron|TNPO1_ENST00000523768.1_Missense_Mutation_p.R128C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	178					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.R170C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TGTTTTAGATCGTCCTCTCAA	0.343																																					p.R170C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C508T	5						.						122.0	121.0	121.0					5																	72161492		2202	4300	6502	72197248	SO:0001583	missense	3842	exon6			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.532C>T	5.37:g.72161492C>T	ENSP00000336712:p.Arg178Cys		72197248	NM_153188	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336207	0.60963	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	M	0.68593	2.085	0.80722	D	1	B;B	0.26195	0.144;0.022	B;B	0.26770	0.073;0.019	T	0.67177	-0.5736	10	0.62326	D	0.03	-11.416	13.4097	0.60935	0.1572:0.8428:0.0:0.0	.	128;178	Q92973-3;Q92973	.;TNPO1_HUMAN	C	178;128;128;170	ENSP00000336712:R178C;ENSP00000398524:R128C;ENSP00000428899:R128C;ENSP00000425118:R170C	ENSP00000336712:R178C	R	+	1	0	TNPO1	72197248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.478000	0.53158	2.418000	0.82041	0.650000	0.86243	CGT		0.343	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
TNPO1	3842	broad.mit.edu	37	5	72192904	72192904	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:72192904T>G	ENST00000337273.5	+	20	2690	c.2264T>G	c.(2263-2265)aTt>aGt	p.I755S	TNPO1_ENST00000506351.2_Missense_Mutation_p.I747S|TNPO1_ENST00000454282.1_Missense_Mutation_p.I705S|TNPO1_ENST00000523768.1_Missense_Mutation_p.I705S	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	755					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.I747S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CAGCCTTATATTCCTATGGTG	0.343																																					p.I747S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2240G	5						.						66.0	63.0	64.0					5																	72192904		2203	4300	6503	72228660	SO:0001583	missense	3842	exon20			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2264T>G	5.37:g.72192904T>G	ENSP00000336712:p.Ile755Ser		72228660	NM_153188	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.484798	0.63962	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.103394	0.64402	D	0.000003	D	0.84474	0.5480	M	0.86573	2.825	0.80722	D	1	B;B	0.31859	0.12;0.343	B;P	0.54965	0.169;0.765	D	0.85491	0.1185	10	0.87932	D	0	-15.0484	15.9644	0.79956	0.0:0.0:0.0:1.0	.	705;755	Q92973-3;Q92973	.;TNPO1_HUMAN	S	755;705;705;747;266	ENSP00000336712:I755S;ENSP00000398524:I705S;ENSP00000428899:I705S;ENSP00000425118:I747S	ENSP00000336712:I755S	I	+	2	0	TNPO1	72228660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.669000	0.83911	2.172000	0.68678	0.460000	0.39030	ATT		0.343	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
TMEM174	134288	broad.mit.edu	37	5	72469446	72469446	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:72469446A>C	ENST00000296776.5	+	1	425	c.376A>C	c.(376-378)Aac>Cac	p.N126H	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	126						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.N126H(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CACTGGCATCAACCAACCCAT	0.517																																					p.N126H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A376C	5						.						110.0	108.0	108.0					5																	72469446		2203	4300	6503	72505202	SO:0001583	missense	134288	exon1			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.376A>C	5.37:g.72469446A>C	ENSP00000296776:p.Asn126His		72505202	NM_153217	B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450055	0.84101	.	.	ENSG00000164325	ENST00000296776	.	.	.	6.02	6.02	0.97574	.	0.048011	0.85682	D	0.000000	T	0.67050	0.2852	L	0.29908	0.895	0.52099	D	0.999942	D	0.89917	1.0	D	0.78314	0.991	T	0.70189	-0.4940	9	0.72032	D	0.01	5.742	16.5446	0.84426	1.0:0.0:0.0:0.0	.	126	Q8WUU8	TM174_HUMAN	H	126	.	ENSP00000296776:N126H	N	+	1	0	TMEM174	72505202	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.687000	0.84139	2.311000	0.77944	0.533000	0.62120	AAC		0.517	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217	
ANKRA2	57763	broad.mit.edu	37	5	72858504	72858504	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:72858504A>C	ENST00000296785.3	-	2	861	c.203T>G	c.(202-204)tTt>tGt	p.F68C		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	68						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)	p.F68C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GGACTTCACAAATCGAGAACA	0.398																																					p.F68C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T203G	5						.						173.0	167.0	169.0					5																	72858504		2203	4300	6503	72894260	SO:0001583	missense	57763	exon2			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.203T>G	5.37:g.72858504A>C	ENSP00000296785:p.Phe68Cys		72894260	NM_023039		Missense_Mutation	SNP	ENST00000296785.3	37	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233782	0.79688	.	.	ENSG00000164331	ENST00000296785;ENST00000504641	T;T	0.57752	0.38;0.38	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.971	T	0.64202	-0.6463	10	0.40728	T	0.16	-18.9633	15.1017	0.72284	1.0:0.0:0.0:0.0	.	68;68	D6RBK8;Q9H9E1	.;ANRA2_HUMAN	C	68	ENSP00000296785:F68C;ENSP00000422643:F68C	ENSP00000296785:F68C	F	-	2	0	ANKRA2	72894260	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.865000	0.92300	1.965000	0.57142	0.533000	0.62120	TTT		0.398	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039	
ARHGEF28	64283	broad.mit.edu	37	5	73153964	73153964	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:73153964C>T	ENST00000426542.2	+	15	1987	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A656V|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A343V|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A656V|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A656V|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A656V|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A656V			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	656					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.A656V(1)									CATCAGTTTGCCCCAGGAACA	0.443																																					p.A656V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1967T	5						.						169.0	168.0	169.0					5																	73153964		1882	4119	6001	73189720	SO:0001583	missense	64283	exon16				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1967C>T	5.37:g.73153964C>T	ENSP00000412175:p.Ala656Val		73189720	NM_001177693	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	0.924	-0.714969	0.03206	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.35	4.12	0.48240	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	T	0.73273	0.3566	N	0.00690	-1.25	0.19775	N	0.999952	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.59648	-0.7415	9	0.06891	T	0.86	.	10.7121	0.45990	0.0:0.0767:0.0:0.9233	.	343;656;656;656	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	V	656;656;656;656;656;656;343	ENSP00000296794:A656V;ENSP00000441913:A656V;ENSP00000441436:A656V;ENSP00000287898:A656V;ENSP00000411459:A656V;ENSP00000412175:A656V;ENSP00000296799:A343V	ENSP00000287898:A656V	A	+	2	0	RP11-428C6.1	73189720	0.902000	0.30710	0.991000	0.47740	0.688000	0.40055	1.382000	0.34374	0.873000	0.35799	-0.440000	0.05779	GCC		0.443	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
GCNT4	51301	broad.mit.edu	37	5	74324764	74324764	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:74324764G>A	ENST00000322348.4	-	1	1960	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	367					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.R367C(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)		TTGACAAGGCGAGTCTTACTC	0.468																																					p.R367C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099T	5						.						57.0	57.0	57.0					5																	74324764		2203	4300	6503	74360520	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.1099C>T	5.37:g.74324764G>A	ENSP00000317027:p.Arg367Cys		74360520	NM_016591		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	19.83	3.899440	0.72754	.	.	ENSG00000176928	ENST00000322348	T	0.14266	2.52	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.90483	3.12	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.60632	-0.7225	10	0.87932	D	0	-17.3237	17.5239	0.87794	0.0:0.1237:0.8762:0.0	.	367	Q9P109	GCNT4_HUMAN	C	367	ENSP00000317027:R367C	ENSP00000317027:R367C	R	-	1	0	GCNT4	74360520	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.412000	0.73303	1.563000	0.49615	0.650000	0.86243	CGC		0.468	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
GCNT4	51301	broad.mit.edu	37	5	74325068	74325068	+	Missense_Mutation	SNP	G	G	T	rs144350055	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:74325068G>T	ENST00000322348.4	-	1	1656	c.795C>A	c.(793-795)ttC>ttA	p.F265L		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	265					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.F265L(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)		GATGGTAAGTGAATCTTTCCA	0.403																																					p.F265L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C795A	5						.						89.0	91.0	90.0					5																	74325068		2203	4300	6503	74360824	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.795C>A	5.37:g.74325068G>T	ENSP00000317027:p.Phe265Leu		74360824	NM_016591		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	16.47	3.133270	0.56828	.	.	ENSG00000176928	ENST00000322348	T	0.10477	2.87	6.06	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.12475	0.0303	L	0.50333	1.59	0.40378	D	0.979411	P	0.44776	0.843	P	0.44772	0.46	T	0.06197	-1.0840	10	0.39692	T	0.17	-17.0893	7.2888	0.26354	0.3512:0.0:0.6488:0.0	.	265	Q9P109	GCNT4_HUMAN	L	265	ENSP00000317027:F265L	ENSP00000317027:F265L	F	-	3	2	GCNT4	74360824	0.998000	0.40836	1.000000	0.80357	0.947000	0.59692	1.534000	0.36051	0.913000	0.36797	-0.133000	0.14855	TTC		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
POC5	134359	broad.mit.edu	37	5	75008688	75008688	+	Silent	SNP	C	C	T	rs372045904		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:75008688C>T	ENST00000428202.2	-	2	264	c.75G>A	c.(73-75)tcG>tcA	p.S25S	POC5_ENST00000510798.1_5'Flank|POC5_ENST00000504862.1_5'Flank|POC5_ENST00000380475.2_5'UTR|POC5_ENST00000514838.2_Silent_p.S25S|POC5_ENST00000446329.2_5'Flank	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	25					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S25S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCTGAAGATTCGAAGAGACAG	0.323																																					p.S25S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75A	5						.	C		1,3645		0,1,1822	57.0	51.0	53.0		75	3.0	1.0	5		53	0,8146		0,0,4073	no	coding-synonymous	POC5	NM_001099271.1		0,1,5895	TT,TC,CC		0.0,0.0274,0.0085		25/576	75008688	1,11791	1823	4073	5896	75044444	SO:0001819	synonymous_variant	134359	exon2			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.75G>A	5.37:g.75008688C>T			75044444	NM_001099271	B4DJG7|Q494X7|Q494X9|Q6P085	Silent	SNP	ENST00000428202.2	37	CCDS47236.1																																																																																				0.323	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408	
SV2C	22987	broad.mit.edu	37	5	75587594	75587594	+	Splice_Site	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:75587594T>G	ENST00000502798.2	+	8	1692	c.1250T>G	c.(1249-1251)aTt>aGt	p.I417S	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Splice_Site_p.I417S	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	417					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.I417S(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ATTTCACAGATTTGGTTGACT	0.373																																					p.I417S												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.T1250G	5						.						123.0	129.0	127.0					5																	75587594		1827	4085	5912	75623350	SO:0001630	splice_region_variant	22987	exon8			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1249-1T>G	5.37:g.75587594T>G			75623350	NM_014979	Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.060926	0.76074	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.57436	0.4;0.4	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.72118	2.19	0.80722	D	1	B	0.34214	0.442	P	0.47603	0.551	T	0.68591	-0.5368	10	0.72032	D	0.01	-21.8611	16.3453	0.83126	0.0:0.0:0.0:1.0	.	417	Q496J9	SV2C_HUMAN	S	417	ENSP00000423541:I417S;ENSP00000316983:I417S	ENSP00000316983:I417S	I	+	2	0	SV2C	75623350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.979000	0.88103	2.261000	0.74972	0.533000	0.62120	ATT		0.373	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		Missense_Mutation
IQGAP2	10788	broad.mit.edu	37	5	75893322	75893322	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:75893322G>A	ENST00000274364.6	+	10	1263	c.966G>A	c.(964-966)acG>acA	p.T322T	IQGAP2_ENST00000379730.3_De_novo_Start_InFrame	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	322					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.T322T(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)		CCGAGAATACGCTGCTTGCAC	0.502																																					p.T322T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G966A	5						.						121.0	112.0	115.0					5																	75893322		2203	4300	6503	75929078	SO:0001819	synonymous_variant	10788	exon10			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.966G>A	5.37:g.75893322G>A			75929078	NM_006633	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	CCDS34188.1																																																																																				0.502	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
PDE8B	8622	broad.mit.edu	37	5	76624876	76624876	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:76624876C>T	ENST00000264917.5	+	4	689	c.644C>T	c.(643-645)tCg>tTg	p.S215L	PDE8B_ENST00000333194.4_Missense_Mutation_p.S215L|PDE8B_ENST00000342343.4_Missense_Mutation_p.S195L|PDE8B_ENST00000340978.3_Missense_Mutation_p.S215L|PDE8B_ENST00000346042.3_Missense_Mutation_p.S215L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	215					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S215L(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GCAGTGGTTTCGCGAGTGTAA	0.483																																					p.S215L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C644T	5						.						126.0	95.0	105.0					5																	76624876		2203	4300	6503	76660632	SO:0001583	missense	8622	exon4			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.644C>T	5.37:g.76624876C>T	ENSP00000264917:p.Ser215Leu		76660632	NM_003719	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815691	0.50527	.	.	ENSG00000113231	ENST00000505926;ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000502945	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.88	5.18	5.18	0.71444	Signal transduction response regulator, receiver domain (1);	2.037340	0.01917	N	0.040205	T	0.44993	0.1320	N	0.22421	0.69	0.80722	D	1	B;P;P;P;P	0.39535	0.281;0.626;0.626;0.626;0.677	B;B;B;B;B	0.36244	0.12;0.183;0.183;0.14;0.22	T	0.41875	-0.9484	10	0.54805	T	0.06	.	18.3497	0.90335	0.0:1.0:0.0:0.0	.	215;215;215;195;215	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	L	91;215;215;215;195;215;91	ENSP00000425720:S91L;ENSP00000345446:S215L;ENSP00000330428:S215L;ENSP00000264917:S215L;ENSP00000345646:S195L;ENSP00000331336:S215L;ENSP00000426200:S91L	ENSP00000264917:S215L	S	+	2	0	PDE8B	76660632	1.000000	0.71417	0.992000	0.48379	0.254000	0.26022	6.403000	0.73264	2.428000	0.82296	0.650000	0.86243	TCG		0.483	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
SCAMP1	9522	broad.mit.edu	37	5	77755079	77755079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:77755079C>A	ENST00000538629.1	+	8	903	c.746C>A	c.(745-747)tCa>tAa	p.S249*	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	249					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GGTTGGATTTCATCCCTTACT	0.318																																					p.H249N												.	.	0			c.C745A	5						.						133.0	114.0	120.0					5																	77755079		1843	4093	5936	77790835	SO:0001587	stop_gained	9522	exon8			AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.746C>A	5.37:g.77755079C>A	ENSP00000475496:p.Ser249*		77790835	NM_004866	O43587|Q6FG23|Q96BX1|Q96QK5	Nonsense_Mutation	SNP	ENST00000538629.1	37																																																																																					0.318	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004866	
ARSB	411	broad.mit.edu	37	5	78251316	78251316	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:78251316G>T	ENST00000264914.4	-	4	1236	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	ARSB_ENST00000396151.3_Missense_Mutation_p.L234I|ARSB_ENST00000565165.1_Missense_Mutation_p.L234I	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	234					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)	p.L234I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GCAAGGTAGAGAAACAGAGGC	0.398																																					p.L234I	Melanoma(169;563 1968 25780 26156 52266)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C700A	5						.						83.0	83.0	83.0					5																	78251316		2203	4300	6503	78287072	SO:0001583	missense	411	exon4			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.700C>A	5.37:g.78251316G>T	ENSP00000264914:p.Leu234Ile		78287072	NM_000046	B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750580	0.89753	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.99005	-5.32;-5.32	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	M	0.77712	2.385	0.80722	D	1	P;P	0.43750	0.763;0.816	P;P	0.54140	0.608;0.743	D	0.99701	1.1004	10	0.49607	T	0.09	.	19.4957	0.95072	0.0:0.0:1.0:0.0	.	234;234	Q8N322;P15848	.;ARSB_HUMAN	I	234	ENSP00000264914:L234I;ENSP00000379455:L234I	ENSP00000264914:L234I	L	-	1	0	ARSB	78287072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.260000	0.72502	2.613000	0.88420	0.591000	0.81541	CTC		0.398	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046	
BHMT2	23743	broad.mit.edu	37	5	78378752	78378752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:78378752G>T	ENST00000255192.3	+	5	637	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Nonsense_Mutation_p.E127*	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	191	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.E191*(2)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	AACCCCCGGAGAATGTGCTGT	0.473																																					p.E127X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G379T	5						.						235.0	221.0	226.0					5																	78378752		2203	4300	6503	78414508	SO:0001587	stop_gained	23743	exon4				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.571G>T	5.37:g.78378752G>T	ENSP00000255192:p.Glu191*		78414508	NM_001178005	B7Z516|Q9NXX7	Nonsense_Mutation	SNP	ENST00000255192.3	37	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946007	0.53079	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	.	.	.	5.62	4.74	0.60224	.	0.191330	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-8.3173	15.9827	0.80125	0.0:0.2701:0.7299:0.0	.	.	.	.	X	191;127	.	ENSP00000255192:E191X	E	+	1	0	BHMT2	78414508	1.000000	0.71417	0.484000	0.27391	0.070000	0.16714	4.398000	0.59697	1.363000	0.46019	0.655000	0.94253	GAA		0.473	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614	
BHMT	635	broad.mit.edu	37	5	78426877	78426877	+	Nonsense_Mutation	SNP	G	G	T	rs201007228		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:78426877G>T	ENST00000274353.5	+	8	1266	c.1159G>T	c.(1159-1161)Gaa>Taa	p.E387*	BHMT_ENST00000524080.1_Nonsense_Mutation_p.E234*|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	387					amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.E387*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCAGCAGAAAGAAGCCACAAC	0.458																																					p.E387X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1159T	5						.						111.0	124.0	120.0					5																	78426877		2203	4300	6503	78462633	SO:0001587	stop_gained	635	exon8			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.1159G>T	5.37:g.78426877G>T	ENSP00000274353:p.Glu387*		78462633	NM_001713	Q9UNI9	Nonsense_Mutation	SNP	ENST00000274353.5	37	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	G	37	6.513367	0.97629	.	.	ENSG00000145692	ENST00000274353;ENST00000524080	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.6116	19.5116	0.95144	0.0:0.0:1.0:0.0	.	.	.	.	X	387;234	.	ENSP00000274353:E387X	E	+	1	0	BHMT	78462633	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.619000	0.88677	0.655000	0.94253	GAA		0.458	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713	
HOMER1	9456	broad.mit.edu	37	5	78746816	78746816	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:78746816C>T	ENST00000334082.6	-	3	1733	c.291G>A	c.(289-291)tcG>tcA	p.S97S	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Silent_p.S97S|HOMER1_ENST00000508576.1_Silent_p.S97S	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	97	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)	p.S97S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AACTCACTTTCGAAAGATGAT	0.343																																					p.S97S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G291A	5						.						78.0	71.0	73.0					5																	78746816		1810	4072	5882	78782572	SO:0001819	synonymous_variant	9456	exon3			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.291G>A	5.37:g.78746816C>T			78782572	NM_004272	B2R688|O96003|Q86YM5	Silent	SNP	ENST00000334082.6	37	CCDS43335.1																																																																																				0.343	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	
CMYA5	202333	broad.mit.edu	37	5	79027027	79027027	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79027027G>T	ENST00000446378.2	+	2	2470	c.2439G>T	c.(2437-2439)aaG>aaT	p.K813N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	813					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.K813N(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)		AATCTCAAAAGAAAATAATCA	0.448																																					p.K813N												CMYA5,lung,NS,Substitution - Missense,+1 	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2439T	5						.						85.0	81.0	82.0					5																	79027027		1924	4132	6056	79062783	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.2439G>T	5.37:g.79027027G>T	ENSP00000394770:p.Lys813Asn		79062783	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	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393369	0.42410	.	.	ENSG00000164309	ENST00000446378	T	0.39592	1.07	5.41	3.58	0.41010	.	0.766243	0.11893	N	0.519392	T	0.54447	0.1859	M	0.77103	2.36	0.09310	N	1	D	0.59357	0.985	P	0.52823	0.71	T	0.47086	-0.9144	10	0.87932	D	0	.	8.4711	0.32986	0.186:0.0:0.814:0.0	.	813	Q8N3K9	CMYA5_HUMAN	N	813	ENSP00000394770:K813N	ENSP00000394770:K813N	K	+	3	2	CMYA5	79062783	0.044000	0.20184	0.003000	0.11579	0.007000	0.05969	2.458000	0.45014	1.397000	0.46682	0.650000	0.86243	AAG		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79028707	79028707	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79028707C>T	ENST00000446378.2	+	2	4150	c.4119C>T	c.(4117-4119)atC>atT	p.I1373I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1373					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.I1373I(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)		AAGAAGAAATCCCAACAGATT	0.383																																					p.I1373I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4119T	5						.						38.0	37.0	37.0					5																	79028707		1852	4094	5946	79064463	SO:0001819	synonymous_variant	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.4119C>T	5.37:g.79028707C>T			79064463	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.383	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79030778	79030778	+	Missense_Mutation	SNP	A	A	G	rs527321531		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79030778A>G	ENST00000446378.2	+	2	6221	c.6190A>G	c.(6190-6192)Aca>Gca	p.T2064A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2064					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.T2064A(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)		GAAGTCAGAAACAATCTCCTC	0.463													A|||	1	0.000199681	0.0	0.0	5008	,	,		19462	0.0		0.001	False		,,,				2504	0.0				p.T2064A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6190G	5						.						76.0	75.0	75.0					5																	79030778		1862	4105	5967	79066534	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.6190A>G	5.37:g.79030778A>G	ENSP00000394770:p.Thr2064Ala		79066534	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	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914613	0.33815	.	.	ENSG00000164309	ENST00000446378	T	0.46819	0.86	4.92	2.45	0.29901	.	0.708385	0.11808	N	0.527401	T	0.29491	0.0735	N	0.22421	0.69	0.09310	N	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.21415	-1.0246	10	0.44086	T	0.13	.	3.5148	0.07721	0.692:0.0:0.1155:0.1926	.	2064	Q8N3K9	CMYA5_HUMAN	A	2064	ENSP00000394770:T2064A	ENSP00000394770:T2064A	T	+	1	0	CMYA5	79066534	0.503000	0.26115	0.146000	0.22360	0.253000	0.25986	0.749000	0.26320	0.215000	0.20761	0.454000	0.30748	ACA		0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79033806	79033806	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79033806C>A	ENST00000446378.2	+	2	9249	c.9218C>A	c.(9217-9219)cCa>cAa	p.P3073Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3073				PQKLNVEEKLSKEVTEETISFPVSSVESALEHEYDLVKLDE -> SFKTIPLPDDSETVACHKTLKSRLEDEKVTPLKENKQK ETQ (in Ref. 3; AAH62664). {ECO:0000305}.	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.P3073Q(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)		CAGAAAGCTCCACAGAAATTA	0.348																																					p.P3073Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9218A	5						.						42.0	41.0	42.0					5																	79033806		1794	4061	5855	79069562	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.9218C>A	5.37:g.79033806C>A	ENSP00000394770:p.Pro3073Gln		79069562	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	3.661	-0.069512	0.07228	.	.	ENSG00000164309	ENST00000446378	T	0.17691	2.26	5.47	2.33	0.28932	.	0.801389	0.11179	N	0.591123	T	0.26991	0.0661	M	0.63428	1.95	0.09310	N	1	D	0.53885	0.963	P	0.52189	0.692	T	0.09015	-1.0694	10	0.56958	D	0.05	.	7.8313	0.29344	0.0:0.6237:0.0:0.3763	.	3073	Q8N3K9	CMYA5_HUMAN	Q	3073	ENSP00000394770:P3073Q	ENSP00000394770:P3073Q	P	+	2	0	CMYA5	79069562	0.000000	0.05858	0.109000	0.21407	0.568000	0.35870	-0.633000	0.05483	0.682000	0.31407	-0.137000	0.14449	CCA		0.348	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
MTX3	345778	broad.mit.edu	37	5	79286057	79286057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79286057C>T	ENST00000512528.1	-	3	174	c.154G>A	c.(154-156)Gat>Aat	p.D52N	MTX3_ENST00000512560.1_5'UTR|MTX3_ENST00000509852.1_Missense_Mutation_p.D52N			Q5HYI7	MTX3_HUMAN	metaxin 3	52					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.D52N(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		ATTGGTACATCGCCTATAATC	0.373																																					p.D52N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G154A	5						.						80.0	73.0	75.0					5																	79286057		1840	4084	5924	79321813	SO:0001583	missense	345778	exon3			BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.154G>A	5.37:g.79286057C>T	ENSP00000424798:p.Asp52Asn		79321813	NM_001010891	B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37		.	.	.	.	.	.	.	.	.	.	C	12.14	1.847526	0.32606	.	.	ENSG00000177034	ENST00000328496;ENST00000509852;ENST00000512528;ENST00000418095	T;T	0.42513	0.99;0.97	5.86	5.86	0.93980	.	0.363948	0.32518	N	0.005987	T	0.32704	0.0838	L	0.38175	1.15	0.30816	N	0.738319	B;B	0.25743	0.133;0.009	B;B	0.21917	0.037;0.017	T	0.34279	-0.9835	10	0.56958	D	0.05	-2.5893	9.8606	0.41112	0.0:0.8118:0.0:0.1882	.	52;52	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	N	52	ENSP00000423302:D52N;ENSP00000424798:D52N	ENSP00000331672:D52N	D	-	1	0	MTX3	79321813	0.976000	0.34144	0.952000	0.39060	0.974000	0.67602	2.398000	0.44486	2.773000	0.95371	0.655000	0.94253	GAT		0.373	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971	
THBS4	7060	broad.mit.edu	37	5	79366897	79366897	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79366897C>A	ENST00000350881.2	+	13	1804	c.1614C>A	c.(1612-1614)atC>atA	p.I538I	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.I447I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	538					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.I538I(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)		ATAAAGATATCTTTGGGGATG	0.423																																					p.I538I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1614A	5						.						219.0	201.0	208.0					5																	79366897		2203	4300	6503	79402653	SO:0001819	synonymous_variant	7060	exon13				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.1614C>A	5.37:g.79366897C>A			79402653	NM_003248	B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.423	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
THBS4	7060	broad.mit.edu	37	5	79378955	79378955	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79378955C>T	ENST00000350881.2	+	22	3067	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.F868F|THBS4_ENST00000504720.1_3'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	959					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.F959F(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)		TCGACCGCTTCGATAATTAAA	0.418											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F959F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2877T	5						.						86.0	94.0	91.0					5																	79378955		2203	4300	6503	79414711	SO:0001819	synonymous_variant	7060	exon22				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.2877C>T	5.37:g.79378955C>T		1190	79414711	NM_003248	B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.418	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
SPZ1	84654	broad.mit.edu	37	5	79616641	79616641	+	Missense_Mutation	SNP	G	G	A	rs201817970		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79616641G>A	ENST00000296739.4	+	1	852	c.607G>A	c.(607-609)Gca>Aca	p.A203T		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	203	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A203T(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TGAGAACACCGCACAAGTTTT	0.353													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20330	0.0		0.0	False		,,,				2504	0.0				p.A203T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607A	5						.	G	THR/ALA	5,3641		0,5,1818	68.0	62.0	64.0		607	0.3	0.0	5		64	4,8142		0,4,4069	yes	missense	SPZ1	NM_032567.3	58	0,9,5887	AA,AG,GG		0.0491,0.1371,0.0763	benign	203/431	79616641	9,11783	1823	4073	5896	79652397	SO:0001583	missense	84654	exon1				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.607G>A	5.37:g.79616641G>A	ENSP00000369611:p.Ala203Thr		79652397	NM_032567	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	9.230	1.035608	0.19590	0.001371	4.91E-4	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.43688	0.94;1.54	4.45	0.257	0.15574	.	1.035720	0.07670	N	0.935346	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B	0.30482	0.281	B	0.22880	0.042	T	0.19160	-1.0314	10	0.15499	T	0.54	-24.7169	8.0398	0.30515	0.4161:0.0:0.5839:0.0	.	203	Q9BXG8	SPZ1_HUMAN	T	203	ENSP00000426530:A203T;ENSP00000369611:A203T	ENSP00000369611:A203T	A	+	1	0	SPZ1	79652397	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.229000	0.09098	0.019000	0.15079	-0.214000	0.12660	GCA		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567	
ZFYVE16	9765	broad.mit.edu	37	5	79733718	79733718	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79733718A>C	ENST00000338008.5	+	3	1394	c.1214A>C	c.(1213-1215)gAt>gCt	p.D405A	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D405A|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D405A	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	405					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.D405A(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)		GAACATAAAGATAATATACAA	0.388																																					p.D405A	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1214C	5						.						50.0	50.0	50.0					5																	79733718		2203	4299	6502	79769474	SO:0001583	missense	9765	exon4			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.1214A>C	5.37:g.79733718A>C	ENSP00000337159:p.Asp405Ala		79769474	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	A	3.422	-0.117885	0.06838	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.46063	0.88;0.88;0.88	5.37	1.07	0.20283	.	0.097634	0.45126	D	0.000393	T	0.21307	0.0513	L	0.32530	0.975	0.09310	N	1	P;P	0.42296	0.775;0.666	B;B	0.36666	0.23;0.194	T	0.24584	-1.0156	10	0.09338	T	0.73	-2.4121	5.0575	0.14540	0.5686:0.1455:0.2859:0.0	.	405;405	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	A	405	ENSP00000337159:D405A;ENSP00000423663:D405A;ENSP00000426848:D405A	ENSP00000337159:D405A	D	+	2	0	ZFYVE16	79769474	0.962000	0.33011	0.000000	0.03702	0.087000	0.18053	2.252000	0.43196	0.018000	0.15052	0.533000	0.62120	GAT		0.388	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
ZFYVE16	9765	broad.mit.edu	37	5	79734197	79734197	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79734197G>T	ENST00000338008.5	+	3	1873	c.1693G>T	c.(1693-1695)Gat>Tat	p.D565Y	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D565Y|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D565Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	565					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.D565Y(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)		GAATCAGATAGATATGAAAGG	0.318																																					p.D565Y	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1693T	5						.						43.0	46.0	45.0					5																	79734197		2201	4300	6501	79769953	SO:0001583	missense	9765	exon4			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.1693G>T	5.37:g.79734197G>T	ENSP00000337159:p.Asp565Tyr		79769953	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	5.437	0.265838	0.10294	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.47528	0.84;0.84;0.84	5.63	1.63	0.23807	.	0.619737	0.15960	N	0.236269	T	0.45816	0.1361	L	0.29908	0.895	0.09310	N	1	D;P	0.53462	0.96;0.61	P;B	0.58130	0.833;0.233	T	0.18681	-1.0329	10	0.45353	T	0.12	-4.5228	6.7969	0.23731	0.2232:0.1295:0.6473:0.0	.	565;565	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	Y	565	ENSP00000337159:D565Y;ENSP00000423663:D565Y;ENSP00000426848:D565Y	ENSP00000337159:D565Y	D	+	1	0	ZFYVE16	79769953	0.001000	0.12720	0.002000	0.10522	0.182000	0.23217	0.153000	0.16323	0.831000	0.34780	0.655000	0.94253	GAT		0.318	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
ZFYVE16	9765	broad.mit.edu	37	5	79741096	79741096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:79741096G>T	ENST00000338008.5	+	6	2776	c.2596G>T	c.(2596-2598)Gaa>Taa	p.E866*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E866*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E866*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	866					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.E866*(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)		ATGTTCCAAAGAACAGAAGAG	0.318																																					p.E866X	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2596T	5						.						119.0	114.0	115.0					5																	79741096		2203	4300	6503	79776852	SO:0001587	stop_gained	9765	exon7			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.2596G>T	5.37:g.79741096G>T	ENSP00000337159:p.Glu866*		79776852	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	44	10.893098	0.99484	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-26.2682	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	X	866	.	ENSP00000337159:E866X	E	+	1	0	ZFYVE16	79776852	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.552000	0.98115	2.941000	0.99782	0.655000	0.94253	GAA		0.318	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
VCAN	1462	broad.mit.edu	37	5	82786055	82786055	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:82786055A>G	ENST00000265077.3	+	3	774	c.209A>G	c.(208-210)gAa>gGa	p.E70G	VCAN_ENST00000512590.2_Missense_Mutation_p.E22G|VCAN_ENST00000342785.4_Missense_Mutation_p.E70G|VCAN_ENST00000343200.5_Missense_Mutation_p.E70G|VCAN_ENST00000502527.2_Missense_Mutation_p.E70G|VCAN_ENST00000513984.1_Missense_Mutation_p.E70G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	70	Ig-like V-type.				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.E70G(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)	TCTAAGATTGAAGTGGACAAA	0.418																																					p.E70G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A209G	5						.						104.0	103.0	103.0					5																	82786055		2203	4300	6503	82821811	SO:0001583	missense	1462	exon3			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.209A>G	5.37:g.82786055A>G	ENSP00000265077:p.Glu70Gly		82821811	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494346	0.85069	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	D;D;D;D;T;T;D	0.87412	-2.12;-2.02;-2.21;-2.25;3.14;2.83;-1.99	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.89364	0.6694	L	0.39085	1.19	0.41463	D	0.988056	D;B;D;D;B	0.89917	0.968;0.003;1.0;0.98;0.002	P;B;D;D;B	0.79108	0.856;0.015;0.992;0.928;0.012	D	0.89882	0.4031	10	0.59425	D	0.04	.	11.2104	0.48795	0.8631:0.0:0.0:0.1369	.	70;70;70;70;70	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	G	70;70;70;22;70;70;70	ENSP00000265077:E70G;ENSP00000340062:E70G;ENSP00000342768:E70G;ENSP00000425959:E22G;ENSP00000426251:E70G;ENSP00000426715:E70G;ENSP00000421362:E70G	ENSP00000265077:E70G	E	+	2	0	VCAN	82821811	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.782000	0.62396	2.206000	0.71126	0.533000	0.62120	GAA		0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82817499	82817499	+	Missense_Mutation	SNP	G	G	A	rs146606609	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:82817499G>A	ENST00000265077.3	+	7	3939	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	VCAN_ENST00000512590.2_Missense_Mutation_p.R1077H|VCAN_ENST00000342785.4_Missense_Mutation_p.R1125H|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1125	GAG-alpha (glucosaminoglycan attachment domain).				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.R1125H(3)		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)	CTAACACCACGCATTGGGCCA	0.398																																					p.R1125H												.	.	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)	c.G3374A	5						.	G	,,HIS/ARG,HIS/ARG	12,4394	20.2+/-43.8	0,12,2191	68.0	62.0	64.0		,,3374,3374	-0.4	0.0	5	dbSNP_134	64	0,8600		0,0,4300	yes	intron,intron,missense,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,29,29	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,,possibly-damaging,possibly-damaging	,,1125/1643,1125/3397	82817499	12,12994	2203	4300	6503	82853255	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.3374G>A	5.37:g.82817499G>A	ENSP00000265077:p.Arg1125His		82853255	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	3.014	-0.203292	0.06180	0.002724	0.0	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.85556	-1.89;-1.97;-2.0	5.81	-0.402	0.12404	.	0.982777	0.08328	N	0.962738	T	0.67562	0.2906	N	0.08118	0	0.09310	N	1	P;P	0.40000	0.651;0.698	B;B	0.34722	0.188;0.092	T	0.58918	-0.7551	10	0.62326	D	0.03	.	7.3139	0.26489	0.215:0.3072:0.4777:0.0	.	1125;1125	P13611-3;P13611	.;CSPG2_HUMAN	H	1125;1125;1077	ENSP00000265077:R1125H;ENSP00000342768:R1125H;ENSP00000425959:R1077H	ENSP00000265077:R1125H	R	+	2	0	VCAN	82853255	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.409000	0.07160	-0.095000	0.12351	-1.850000	0.00570	CGC		0.398	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82835349	82835349	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:82835349C>A	ENST00000265077.3	+	8	7092	c.6527C>A	c.(6526-6528)tCt>tAt	p.S2176Y	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.S1189Y|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2176	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.S2176Y(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)	GAAGACACTTCTTTAGTTAAC	0.358																																					p.S1189Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3566A	5						.						66.0	65.0	65.0					5																	82835349		2203	4300	6503	82871105	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.6527C>A	5.37:g.82835349C>A	ENSP00000265077:p.Ser2176Tyr		82871105	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432396	0.62844	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.87179	-2.19;-2.22;2.54	5.91	5.03	0.67393	.	0.309371	0.28482	N	0.015184	D	0.86393	0.5922	L	0.53249	1.67	0.80722	D	1	P;P	0.46277	0.762;0.875	B;P	0.44647	0.424;0.456	D	0.87405	0.2372	10	0.72032	D	0.01	.	14.1849	0.65598	0.1508:0.8492:0.0:0.0	.	1189;2176	P13611-2;P13611	.;CSPG2_HUMAN	Y	2176;1189;1189	ENSP00000265077:S2176Y;ENSP00000340062:S1189Y;ENSP00000426251:S1189Y	ENSP00000265077:S2176Y	S	+	2	0	VCAN	82871105	0.004000	0.15560	0.037000	0.18230	0.084000	0.17831	1.322000	0.33689	1.492000	0.48499	0.655000	0.94253	TCT		0.358	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
EDIL3	10085	broad.mit.edu	37	5	83360553	83360553	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:83360553A>C	ENST00000296591.5	-	8	1336	c.918T>G	c.(916-918)acT>acG	p.T306T	EDIL3_ENST00000380138.3_Silent_p.T296T|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	306	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.T306T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CCATTCGCAAAGTGCAATGTC	0.368																																					p.T306T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T918G	5						.						119.0	114.0	116.0					5																	83360553		2203	4300	6503	83396309	SO:0001819	synonymous_variant	10085	exon8			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.918T>G	5.37:g.83360553A>C			83396309	NM_005711	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	CCDS4062.1																																																																																				0.368	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	
RASA1	5921	broad.mit.edu	37	5	86681183	86681183	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:86681183A>C	ENST00000274376.6	+	22	3388	c.2824A>C	c.(2824-2826)Aat>Cat	p.N942H	RASA1_ENST00000506290.1_Missense_Mutation_p.N776H|RASA1_ENST00000456692.2_Missense_Mutation_p.N765H|RASA1_ENST00000512763.1_Missense_Mutation_p.N775H	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	942	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.N942H(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GAACTTAGCAAATCTTGTGGA	0.343																																					p.N942H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2824C	5						.						109.0	97.0	101.0					5																	86681183		2203	4300	6503	86716939	SO:0001583	missense	5921	exon22				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2824A>C	5.37:g.86681183A>C	ENSP00000274376:p.Asn942His		86716939	NM_002890	B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.565411	0.86439	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.56	5.56	0.83823	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.045546	0.85682	D	0.000000	T	0.64216	0.2578	H	0.95043	3.615	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	0.85130	0.997;0.997;0.993;0.993;0.994	T	0.76239	-0.3032	10	0.87932	D	0	.	15.68	0.77360	1.0:0.0:0.0:0.0	.	776;775;776;765;942	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	H	942;765;775;776	ENSP00000274376:N942H;ENSP00000411221:N765H;ENSP00000422008:N775H;ENSP00000420905:N776H	ENSP00000274376:N942H	N	+	1	0	RASA1	86716939	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.026000	0.93700	2.241000	0.73720	0.482000	0.46254	AAT		0.343	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
MEF2C	4208	broad.mit.edu	37	5	88047844	88047844	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:88047844T>C	ENST00000437473.2	-	5	836	c.419A>G	c.(418-420)aAc>aGc	p.N140S	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000539796.1_Missense_Mutation_p.N92S|MEF2C_ENST00000508569.1_Missense_Mutation_p.N140S|MEF2C_ENST00000504921.2_Missense_Mutation_p.N140S|MEF2C_ENST00000510942.1_Missense_Mutation_p.N140S|MEF2C_ENST00000340208.5_Missense_Mutation_p.N158S|MEF2C_ENST00000514028.1_Missense_Mutation_p.N140S|MEF2C_ENST00000506554.1_Missense_Mutation_p.N140S|MEF2C_ENST00000424173.2_Missense_Mutation_p.N138S|MEF2C_ENST00000514015.1_Missense_Mutation_p.N140S	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	140					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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.N138S(1)|p.N140S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CATCTCGAAGTTGGGAGGTGG	0.468										HNSCC(66;0.2)																											p.N140S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A419G	5						.						98.0	97.0	97.0					5																	88047844		1908	4143	6051	88083600	SO:0001583	missense	4208	exon5			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.419A>G	5.37:g.88047844T>C	ENSP00000396219:p.Asn140Ser		88083600	NM_001193350	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272295	0.40194	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;0.59;-0.1;-0.1	5.72	4.52	0.55395	Holliday junction regulator protein family C-terminal repeat (1);	0.090371	0.64402	N	0.000001	T	0.52451	0.1735	L	0.39467	1.215	0.47547	D	0.999452	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.12156	0.003;0.005;0.006;0.007	T	0.45026	-0.9289	10	0.38643	T	0.18	-7.7103	11.9845	0.53140	0.0:0.0686:0.0:0.9314	.	138;158;140;140	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	S	158;138;140;140;140;140;140;140;140;92;138;138	ENSP00000340874:N158S;ENSP00000389610:N138S;ENSP00000421925:N140S;ENSP00000426665:N140S;ENSP00000396219:N140S;ENSP00000422390:N140S;ENSP00000425636:N140S;ENSP00000423597:N140S;ENSP00000424606:N140S;ENSP00000441153:N92S;ENSP00000423826:N138S;ENSP00000423656:N138S	ENSP00000340874:N158S	N	-	2	0	MEF2C	88083600	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.778000	0.62368	0.952000	0.37798	0.377000	0.23210	AAC		0.468	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
MEF2C	4208	broad.mit.edu	37	5	88056812	88056812	+	Intron	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:88056812T>G	ENST00000437473.2	-	4	820				MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000340208.5_Missense_Mutation_p.K150T|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000424173.2_Missense_Mutation_p.K130T|MEF2C_ENST00000514015.1_Intron	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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.K130T(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TACAGGAATTTTATGACTCTT	0.413										HNSCC(66;0.2)																											p.K150T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A449C	5						.						90.0	85.0	87.0					5																	88056812		1568	3582	5150	88092568	SO:0001627	intron_variant	4208	exon6			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.402+189A>C	5.37:g.88056812T>G			88092568	NM_001193347	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662546	0.47572	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000513252;ENST00000506716	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.82	5.82	0.92795	.	.	.	.	.	T	0.62962	0.2471	L	0.54323	1.7	0.80722	D	1	B;B	0.29432	0.086;0.244	B;B	0.29077	0.047;0.098	T	0.59478	-0.7447	9	0.25751	T	0.34	.	16.1917	0.81992	0.0:0.0:0.0:1.0	.	130;150	C9JMZ0;F8W7V7	.;.	T	150;130;130;130	ENSP00000340874:K150T;ENSP00000389610:K130T;ENSP00000423826:K130T;ENSP00000423656:K130T	ENSP00000340874:K150T	K	-	2	0	MEF2C	88092568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.216000	0.71823	0.533000	0.62120	AAA		0.413	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
GPR98	84059	broad.mit.edu	37	5	89985777	89985777	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:89985777T>G	ENST00000405460.2	+	30	6686	c.6590T>G	c.(6589-6591)cTg>cGg	p.L2197R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2197	Calx-beta 15. {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.L2197R(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)		TATCCTGAACTGGAAGAATCT	0.413																																					p.L2197R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6590G	5						.						71.0	67.0	68.0					5																	89985777		1839	4091	5930	90021533	SO:0001583	missense	84059	exon30			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.6590T>G	5.37:g.89985777T>G	ENSP00000384582:p.Leu2197Arg		90021533	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030712	0.75504	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.26957	1.7	5.36	4.2	0.49525	Na-Ca exchanger/integrin-beta4 (2);	0.159322	0.45126	D	0.000393	T	0.43277	0.1240	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.28586	-1.0039	10	0.72032	D	0.01	.	11.3421	0.49539	0.0:0.0711:0.0:0.9289	.	2197	Q8WXG9	GPR98_HUMAN	R	2197	ENSP00000384582:L2197R	ENSP00000296619:L2197R	L	+	2	0	GPR98	90021533	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	4.933000	0.63484	0.872000	0.35775	-0.270000	0.10280	CTG		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	89989865	89989865	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:89989865C>T	ENST00000405460.2	+	33	7388	c.7292C>T	c.(7291-7293)gCc>gTc	p.A2431V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2431					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.A2431V(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)		AATGTCTCTGCCGTGGGGGAG	0.498																																					p.A2431V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7292T	5						.						81.0	78.0	79.0					5																	89989865		1909	4115	6024	90025621	SO:0001583	missense	84059	exon33			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.7292C>T	5.37:g.89989865C>T	ENSP00000384582:p.Ala2431Val		90025621	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	1.005	-0.689657	0.03328	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27256	1.68	5.92	3.13	0.36017	.	0.318671	0.38058	N	0.001826	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	0.999998	B;B	0.14012	0.009;0.004	B;B	0.09377	0.004;0.004	T	0.19257	-1.0311	10	0.36615	T	0.2	.	7.694	0.28583	0.11:0.6437:0.0:0.2463	.	2431;2431	E7ETI5;Q8WXG9	.;GPR98_HUMAN	V	2431	ENSP00000384582:A2431V	ENSP00000296619:A2431V	A	+	2	0	GPR98	90025621	0.009000	0.17119	0.029000	0.17559	0.000000	0.00434	0.621000	0.24418	0.106000	0.17784	-2.086000	0.00376	GCC		0.498	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90024624	90024624	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:90024624T>G	ENST00000405460.2	+	49	10396	c.10300T>G	c.(10300-10302)Tta>Gta	p.L3434V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3434					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.L3434V(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)		AAACTCCCTTTTATTCAGATG	0.478																																					p.L3434V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10300G	5						.						92.0	89.0	90.0					5																	90024624		1909	4107	6016	90060380	SO:0001583	missense	84059	exon49			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.10300T>G	5.37:g.90024624T>G	ENSP00000384582:p.Leu3434Val		90060380	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.26|12.26	1.885291|1.885291	0.33255|0.33255	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.77489	.|-1.1	5.47|5.47	3.02|3.02	0.34903|0.34903	.|.	.|0.158674	.|0.45126	.|D	.|0.000381	T|T	0.80226|0.80226	0.4584|0.4584	M|M	0.65975|0.65975	2.015|2.015	0.45946|0.45946	D|D	0.998776|0.998776	.|D;D	.|0.63046	.|0.978;0.992	.|P;P	.|0.61070	.|0.824;0.883	T|T	0.74688|0.74688	-0.3581|-0.3581	5|10	.|0.28530	.|T	.|0.3	.|.	3.7653|3.7653	0.08620|0.08620	0.2702:0.1458:0.0:0.584|0.2702:0.1458:0.0:0.584	.|.	.|3434;3434	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	L|V	999|3434	.|ENSP00000384582:L3434V	.|ENSP00000296619:L3434V	F|L	+|+	3|1	2|2	GPR98|GPR98	90060380|90060380	0.139000|0.139000	0.22563|0.22563	0.184000|0.184000	0.23157|0.23157	0.478000|0.478000	0.33099|0.33099	0.097000|0.097000	0.15168|0.15168	0.354000|0.354000	0.24105|0.24105	-0.376000|-0.376000	0.06991|0.06991	TTT|TTA		0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90106402	90106402	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:90106402T>C	ENST00000405460.2	+	74	15421	c.15325T>C	c.(15325-15327)Tgg>Cgg	p.W5109R	GPR98_ENST00000425867.2_Missense_Mutation_p.W770R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5109					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.W5109R(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)		TGATGTTAATTGGAGCCCACG	0.353																																					p.W5109R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T15325C	5						.						125.0	125.0	125.0					5																	90106402		1841	4090	5931	90142158	SO:0001583	missense	84059	exon74			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.15325T>C	5.37:g.90106402T>C	ENSP00000384582:p.Trp5109Arg		90142158	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	8.716	0.913227	0.17907	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.34275	1.37;1.37	5.37	4.2	0.49525	.	0.183003	0.49916	D	0.000131	T	0.50411	0.1614	L	0.59436	1.845	0.31600	N	0.652862	D;B;D	0.71674	0.996;0.005;0.998	P;B;P	0.62491	0.802;0.001;0.903	T	0.58651	-0.7599	9	.	.	.	.	11.5721	0.50839	0.0:0.0706:0.0:0.9294	.	770;5109;770	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	R	5109;5109;770	ENSP00000384582:W5109R;ENSP00000392618:W770R	.	W	+	1	0	GPR98	90142158	0.995000	0.38212	0.754000	0.31244	0.521000	0.34408	2.455000	0.44988	0.976000	0.38417	0.460000	0.39030	TGG		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90136476	90136476	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:90136476A>G	ENST00000405460.2	+	78	16789	c.16693A>G	c.(16693-16695)Aca>Gca	p.T5565A	GPR98_ENST00000425867.2_Missense_Mutation_p.T1226A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5565					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.T5565A(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)		AACTGAAGGCACATTGGTCTT	0.413																																					p.T5565A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A16693G	5						.						144.0	142.0	142.0					5																	90136476		1919	4138	6057	90172232	SO:0001583	missense	84059	exon78			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.16693A>G	5.37:g.90136476A>G	ENSP00000384582:p.Thr5565Ala		90172232	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254915	0.22965	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.33654	1.4;1.4	6.16	6.16	0.99307	.	0.682119	0.15817	N	0.243175	T	0.33990	0.0882	L	0.54323	1.7	0.20403	N	0.999902	B;B;B	0.33883	0.304;0.293;0.43	B;B;B	0.30943	0.057;0.039;0.122	T	0.28650	-1.0037	9	.	.	.	.	12.446	0.55651	0.8677:0.0:0.0:0.1323	.	1226;5565;1226	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	A	5565;5565;1226	ENSP00000384582:T5565A;ENSP00000392618:T1226A	.	T	+	1	0	GPR98	90172232	0.227000	0.23707	0.775000	0.31657	0.972000	0.66771	2.301000	0.43628	2.367000	0.80283	0.528000	0.53228	ACA		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
ARRDC3	57561	broad.mit.edu	37	5	90678773	90678773	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:90678773G>T	ENST00000265138.3	-	1	403	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	46					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.S46Y(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		AATTTTAAGAGATTTTACTCT	0.413																																					p.S46Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C137A	5						.						130.0	132.0	131.0					5																	90678773		2203	4300	6503	90714529	SO:0001583	missense	57561	exon1			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.137C>A	5.37:g.90678773G>T	ENSP00000265138:p.Ser46Tyr		90714529	NM_020801	A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316891	0.81469	.	.	ENSG00000113369	ENST00000265138	T	0.15139	2.45	5.16	5.16	0.70880	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	M	0.74467	2.265	0.80722	D	1	P	0.44946	0.846	B	0.44224	0.444	T	0.16129	-1.0413	10	0.87932	D	0	-11.8142	18.6281	0.91349	0.0:0.0:1.0:0.0	.	46	Q96B67	ARRD3_HUMAN	Y	46	ENSP00000265138:S46Y	ENSP00000265138:S46Y	S	-	2	0	ARRDC3	90714529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.704000	0.74639	2.393000	0.81446	0.561000	0.74099	TCT		0.413	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801	
KIAA0825	285600	broad.mit.edu	37	5	93856178	93856178	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:93856178G>T	ENST00000329378.7	-	5	994	c.745C>A	c.(745-747)Ctt>Att	p.L249I	KIAA0825_ENST00000427991.2_Missense_Mutation_p.L249I|KIAA0825_ENST00000312498.7_Missense_Mutation_p.L249I|KIAA0825_ENST00000513200.3_Missense_Mutation_p.L249I	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	249								p.L249I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TATAACTTAAGCATTGTACTT	0.318																																					p.L249I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C745A	5						.						60.0	63.0	62.0					5																	93856178		2203	4297	6500	93881934	SO:0001583	missense	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.745C>A	5.37:g.93856178G>T	ENSP00000331385:p.Leu249Ile		93881934	NM_001145678	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358667	0.41801	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.86956	0.88;0.88;-2.19;-2.19	5.51	3.7	0.42460	.	1.965960	0.01930	N	0.041155	D	0.85287	0.5662	L	0.43152	1.355	0.23293	N	0.997964	B;P	0.42409	0.328;0.779	B;B	0.41813	0.077;0.367	T	0.69206	-0.5206	10	0.20519	T	0.43	.	10.7695	0.46314	0.0708:0.1324:0.7968:0.0	.	249;249	Q8IV33;Q8IV33-2	K0825_HUMAN;.	I	249	ENSP00000424618:L249I;ENSP00000400288:L249I;ENSP00000312205:L249I;ENSP00000331385:L249I	ENSP00000312205:L249I	L	-	1	0	KIAA0825	93881934	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	4.766000	0.62279	0.677000	0.31305	0.585000	0.79938	CTT		0.318	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665	
FAM81B	153643	broad.mit.edu	37	5	94756012	94756012	+	Nonsense_Mutation	SNP	C	C	T	rs199839729	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:94756012C>T	ENST00000283357.5	+	5	608	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	188						nucleus (GO:0005634)		p.R188*(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)		AATAAGAGCTCGAGATCAGGC	0.408													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21958	0.0		0.0	False		,,,				2504	0.0				p.R188X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C562T	5						.	C	stop/ARG	2,3712		0,2,1855	96.0	89.0	91.0		562	4.0	0.4	5		91	0,8204		0,0,4102	yes	stop-gained	FAM81B	NM_152548.2		0,2,5957	TT,TC,CC		0.0,0.0539,0.0168		188/453	94756012	2,11916	1857	4102	5959	94781768	SO:0001587	stop_gained	153643	exon5				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.562C>T	5.37:g.94756012C>T	ENSP00000283357:p.Arg188*		94781768	NM_152548		Nonsense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013415	0.93346	5.39E-4	0.0	ENSG00000153347	ENST00000283357	.	.	.	5.92	4.0	0.46444	.	0.187399	0.43919	D	0.000510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0584	12.1792	0.54202	0.4904:0.5096:0.0:0.0	.	.	.	.	X	188	.	ENSP00000283357:R188X	R	+	1	2	FAM81B	94781768	0.991000	0.36638	0.439000	0.26833	0.987000	0.75469	3.059000	0.49947	1.481000	0.48307	0.644000	0.83932	CGA		0.408	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
TTC37	9652	broad.mit.edu	37	5	94814006	94814006	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:94814006T>G	ENST00000358746.2	-	40	4651	c.4353A>C	c.(4351-4353)ttA>ttC	p.L1451F		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1451						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.L1451F(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TACAGACTTTTAATGCAAGTA	0.358																																					p.L1451F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4353C	5						.						75.0	71.0	72.0					5																	94814006		2203	4300	6503	94839762	SO:0001583	missense	9652	exon40			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.4353A>C	5.37:g.94814006T>G	ENSP00000351596:p.Leu1451Phe		94839762	NM_014639	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514572	0.64522	.	.	ENSG00000198677	ENST00000358746	T	0.76578	-1.03	5.58	-0.0969	0.13635	.	0.000000	0.64402	D	0.000003	T	0.79764	0.4502	M	0.61703	1.905	0.43740	D	0.996235	D	0.76494	0.999	D	0.70935	0.971	T	0.74478	-0.3652	10	0.52906	T	0.07	.	1.4117	0.02292	0.1447:0.3272:0.148:0.3801	.	1451	Q6PGP7	TTC37_HUMAN	F	1451	ENSP00000351596:L1451F	ENSP00000351596:L1451F	L	-	3	2	TTC37	94839762	0.981000	0.34729	0.973000	0.42090	0.891000	0.51852	0.120000	0.15647	0.067000	0.16545	0.455000	0.32223	TTA		0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
RHOBTB3	22836	broad.mit.edu	37	5	95072624	95072624	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:95072624G>A	ENST00000379982.3	+	3	768	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	87	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)	p.R87Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TACACTTCTCGAAATCTAATT	0.328																																					p.R87Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260A	5						.						100.0	99.0	99.0					5																	95072624		2203	4299	6502	95098380	SO:0001583	missense	22836	exon3			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.260G>A	5.37:g.95072624G>A	ENSP00000369318:p.Arg87Gln		95098380	NM_014899	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627038	0.66901	.	.	ENSG00000164292	ENST00000506959;ENST00000379982	T;T	0.76448	-1.02;-0.86	5.8	5.8	0.92144	.	0.061015	0.64402	D	0.000002	T	0.66416	0.2787	L	0.49455	1.56	0.80722	D	1	P	0.39404	0.672	B	0.25140	0.058	T	0.65923	-0.6050	10	0.24483	T	0.36	-13.0072	12.9501	0.58394	0.0744:0.0:0.9256:0.0	.	87	O94955	RHBT3_HUMAN	Q	93;87	ENSP00000423688:R93Q;ENSP00000369318:R87Q	ENSP00000369318:R87Q	R	+	2	0	RHOBTB3	95098380	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	3.506000	0.53364	2.736000	0.93811	0.643000	0.83706	CGA		0.328	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899	
ERAP2	64167	broad.mit.edu	37	5	96249124	96249124	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:96249124G>A	ENST00000437043.3	+	17	3331	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N	ERAP2_ENST00000379904.4_Missense_Mutation_p.D829N|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	874					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D874N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ACTAGCATGGGATTTTGTAAG	0.423																																					p.D874N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2620A	5						.						66.0	62.0	63.0					5																	96249124		2203	4300	6503	96274880	SO:0001583	missense	64167	exon17			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2620G>A	5.37:g.96249124G>A	ENSP00000400376:p.Asp874Asn		96274880	NM_022350	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	CCDS4086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.930|7.930	0.740529|0.740529	0.15642|0.15642	.|.	.|.	ENSG00000164308|ENSG00000164308	ENST00000437043;ENST00000379904|ENST00000512869	T;T|.	0.05855|.	3.38;3.38|.	4.94|4.94	-0.198|-0.198	0.13224|0.13224	.|.	0.333632|.	0.27193|.	N|.	0.020496|.	T|T	0.22781|0.22781	0.0550|0.0550	N|N	0.05330|0.05330	-0.07|-0.07	0.80722|0.80722	D|D	1|1	B;B|.	0.10296|.	0.002;0.003|.	B;B|.	0.17979|.	0.012;0.02|.	T|T	0.04840|0.04840	-1.0923|-1.0923	10|5	0.26408|.	T|.	0.33|.	.|.	4.5068|4.5068	0.11893|0.11893	0.5205:0.1678:0.3117:0.0|0.5205:0.1678:0.3117:0.0	.|.	829;874|.	Q6P179-3;Q6P179|.	.;ERAP2_HUMAN|.	N|E	874;829|28	ENSP00000400376:D874N;ENSP00000369235:D829N|.	ENSP00000369235:D829N|.	D|G	+|+	1|2	0|0	ERAP2|ERAP2	96274880|96274880	0.973000|0.973000	0.33851|0.33851	0.995000|0.995000	0.50966|0.50966	0.334000|0.334000	0.28698|0.28698	0.110000|0.110000	0.15437|0.15437	0.332000|0.332000	0.23536|0.23536	-0.471000|-0.471000	0.05019|0.05019	GAT|GGA		0.423	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	
LNPEP	4012	broad.mit.edu	37	5	96350740	96350740	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:96350740G>A	ENST00000231368.5	+	13	3009	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	LNPEP_ENST00000395770.3_Missense_Mutation_p.D759N	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	773					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 peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D773N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GTTTCAGACAGACCTCATCTA	0.443																																					p.D773N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2317A	5						.						118.0	110.0	113.0					5																	96350740		2203	4300	6503	96376496	SO:0001583	missense	4012	exon13			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2317G>A	5.37:g.96350740G>A	ENSP00000231368:p.Asp773Asn		96376496	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182390	0.09495	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05139	3.49;3.49	5.46	2.69	0.31865	.	1.124820	0.06233	N	0.689070	T	0.04815	0.0130	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47983	-0.9074	10	0.17832	T	0.49	.	5.1131	0.14819	0.2923:0.0:0.5738:0.1338	.	773	Q9UIQ6	LCAP_HUMAN	N	773;759	ENSP00000231368:D773N;ENSP00000379117:D759N	ENSP00000231368:D773N	D	+	1	0	LNPEP	96376496	0.000000	0.05858	0.003000	0.11579	0.696000	0.40369	0.829000	0.27449	0.261000	0.21753	0.591000	0.81541	GAC		0.443	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
GFPT2	9945	broad.mit.edu	37	5	179765547	179765547	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr5:179765547C>T	ENST00000253778.8	-	2	230	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	21	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.E21K(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATGAGGGTTTCGAAGATCTCC	0.567																																					p.E21K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61A	5						.						42.0	48.0	46.0					5																	179765547		1971	4156	6127	179698153	SO:0001583	missense	9945	exon2			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.61G>A	5.37:g.179765547C>T	ENSP00000253778:p.Glu21Lys		179698153	NM_005110	Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801179	0.90538	.	.	ENSG00000131459	ENST00000253778	T	0.77098	-1.07	5.72	5.72	0.89469	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.35341	1.055	0.80722	D	1	P	0.40197	0.706	B	0.36608	0.229	T	0.68135	-0.5489	9	.	.	.	-27.3984	19.4925	0.95056	0.0:1.0:0.0:0.0	.	21	O94808	GFPT2_HUMAN	K	21	ENSP00000253778:E21K	.	E	-	1	0	GFPT2	179698153	1.000000	0.71417	0.902000	0.35471	0.952000	0.60782	5.847000	0.69451	2.702000	0.92279	0.555000	0.69702	GAA		0.567	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	
PRDM13	59336	broad.mit.edu	37	6	100056633	100056633	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:100056633G>A	ENST00000369215.4	+	2	466	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	54	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G54E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ATGGTGAGAGGGGAGCTGGTG	0.597																																					p.G54E												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G161A	6						.						35.0	41.0	39.0					6																	100056633		1993	4160	6153	100163354	SO:0001583	missense	59336	exon2			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.161G>A	6.37:g.100056633G>A	ENSP00000358217:p.Gly54Glu		100163354	NM_021620	Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931522	0.92389	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.07216	3.21;3.21	5.1	5.1	0.69264	SET domain (2);	0.000000	0.34676	U	0.003768	T	0.25232	0.0613	M	0.81341	2.54	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.04165	-1.0972	10	0.87932	D	0	-22.9431	18.1797	0.89773	0.0:0.0:1.0:0.0	.	54	Q9H4Q3	PRD13_HUMAN	E	54;64	ENSP00000358217:G54E;ENSP00000358216:G64E	ENSP00000358216:G64E	G	+	2	0	PRDM13	100163354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.393000	0.81446	0.558000	0.71614	GGG		0.597	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2		
SIM1	6492	broad.mit.edu	37	6	100868696	100868696	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:100868696C>A	ENST00000369208.3	-	10	1919	c.1137G>T	c.(1135-1137)aaG>aaT	p.K379N	SIM1_ENST00000262901.4_Missense_Mutation_p.K379N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	379	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.K379N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGATTTTGACTTTGAGCTGG	0.483																																					p.K379N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1137T	6						.						113.0	109.0	111.0					6																	100868696		2203	4300	6503	100975417	SO:0001583	missense	6492	exon9			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1137G>T	6.37:g.100868696C>A	ENSP00000358210:p.Lys379Asn		100975417	NM_005068	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.857104	0.71834	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.56103	0.48;0.48	5.61	3.51	0.40186	Single-minded, C-terminal (2);	0.176541	0.49916	D	0.000140	T	0.48259	0.1490	L	0.32530	0.975	0.51012	D	0.999908	D	0.71674	0.998	D	0.72075	0.976	T	0.53085	-0.8488	10	0.56958	D	0.05	.	10.6366	0.45569	0.0:0.7718:0.0:0.2282	.	379	P81133	SIM1_HUMAN	N	379	ENSP00000358210:K379N;ENSP00000262901:K379N	ENSP00000262901:K379N	K	-	3	2	SIM1	100975417	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.443000	0.35057	1.384000	0.46424	0.655000	0.94253	AAG		0.483	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
ASCC3	10973	broad.mit.edu	37	6	101075830	101075830	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:101075830A>G	ENST00000369162.2	-	28	4753	c.4409T>C	c.(4408-4410)gTa>gCa	p.V1470A		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1470	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.V1470A(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)		TGTTCGAGATACAATGACCTC	0.408																																					p.V1470A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4409C	6						.						105.0	102.0	103.0					6																	101075830		2203	4300	6503	101182551	SO:0001583	missense	10973	exon28			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.4409T>C	6.37:g.101075830A>G	ENSP00000358159:p.Val1470Ala		101182551	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637648	0.87760	.	.	ENSG00000112249	ENST00000369162	T	0.15017	2.46	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.062472	0.64402	D	0.000005	T	0.44222	0.1283	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55366	-0.8152	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1470	Q8N3C0	HELC1_HUMAN	A	1470	ENSP00000358159:V1470A	ENSP00000358159:V1470A	V	-	2	0	ASCC3	101182551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GTA		0.408	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
ASCC3	10973	broad.mit.edu	37	6	101094534	101094534	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:101094534C>T	ENST00000369162.2	-	22	3934	c.3590G>A	c.(3589-3591)cGa>cAa	p.R1197Q		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1197	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.R1197Q(2)		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)		GAGTGTCACTCGGAGGACAGT	0.403																																					p.R1197Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3590A	6						.						122.0	106.0	111.0					6																	101094534		2203	4300	6503	101201255	SO:0001583	missense	10973	exon22			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.3590G>A	6.37:g.101094534C>T	ENSP00000358159:p.Arg1197Gln		101201255	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137057	0.94517	.	.	ENSG00000112249	ENST00000369162	T	0.61158	0.13	5.39	5.39	0.77823	Sec63 domain (3);	0.000000	0.64402	D	0.000001	T	0.67785	0.2930	M	0.65677	2.01	0.80722	D	1	D	0.71674	0.998	P	0.62184	0.899	T	0.67987	-0.5528	10	0.48119	T	0.1	.	19.1383	0.93436	0.0:1.0:0.0:0.0	.	1197	Q8N3C0	HELC1_HUMAN	Q	1197	ENSP00000358159:R1197Q	ENSP00000358159:R1197Q	R	-	2	0	ASCC3	101201255	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.775000	0.85489	2.511000	0.84671	0.591000	0.81541	CGA		0.403	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
ASCC3	10973	broad.mit.edu	37	6	101100713	101100713	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:101100713C>T	ENST00000369162.2	-	18	3220	c.2876G>A	c.(2875-2877)cGa>cAa	p.R959Q		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	959					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTCTAGTTTTCGTCCAACTTC	0.363																																					p.R959Q												.	.	0			c.G2876A	6						.						98.0	91.0	93.0					6																	101100713		2202	4300	6502	101207434	SO:0001583	missense	10973	exon18			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.2876G>A	6.37:g.101100713C>T	ENSP00000358159:p.Arg959Gln		101207434	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880117	0.72294	.	.	ENSG00000112249	ENST00000369162	T	0.42900	0.96	5.68	4.81	0.61882	.	0.057746	0.64402	N	0.000003	T	0.18257	0.0438	L	0.41961	1.31	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.07481	-1.0770	10	0.14252	T	0.57	.	14.0722	0.64868	0.0:0.9264:0.0:0.0736	.	959	Q8N3C0	HELC1_HUMAN	Q	959	ENSP00000358159:R959Q	ENSP00000358159:R959Q	R	-	2	0	ASCC3	101207434	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.886000	0.63149	1.509000	0.48786	0.591000	0.81541	CGA		0.363	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
GRIK2	2898	broad.mit.edu	37	6	101847196	101847196	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:101847196C>T	ENST00000421544.1	+	1	533	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	GRIK2_ENST00000318991.6_Missense_Mutation_p.R15C|GRIK2_ENST00000358361.3_Missense_Mutation_p.R15C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R15C|GRIK2_ENST00000369138.1_Missense_Mutation_p.R15C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	15					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.R15C(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)	AGTCTTCAGGCGCACCGTTAA	0.478																																					p.R15C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C43T	6						.						170.0	154.0	159.0					6																	101847196		2203	4300	6503	101953917	SO:0001583	missense	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.43C>T	6.37:g.101847196C>T	ENSP00000397026:p.Arg15Cys		101953917	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931185	0.34096	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289	T;T;T;T;T;T	0.23754	2.75;2.7;2.64;1.89;2.96;2.7	5.02	4.15	0.48705	.	0.479715	0.20655	N	0.088140	T	0.05456	0.0144	N	0.14661	0.345	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.23332	-1.0191	10	0.38643	T	0.18	.	3.7168	0.08441	0.0:0.565:0.2346:0.2003	.	15;15;15	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	15	ENSP00000397026:R15C;ENSP00000405596:R15C;ENSP00000358134:R15C;ENSP00000351128:R15C;ENSP00000358133:R15C;ENSP00000313276:R15C	ENSP00000313276:R15C	R	+	1	0	GRIK2	101953917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.197000	0.51028	2.767000	0.95098	0.655000	0.94253	CGC		0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
GRIK2	2898	broad.mit.edu	37	6	102247617	102247617	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:102247617G>A	ENST00000421544.1	+	7	1536	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	GRIK2_ENST00000318991.6_Missense_Mutation_p.R349Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.R349Q|GRIK2_ENST00000369138.1_Missense_Mutation_p.R349Q|GRIK2_ENST00000369134.4_Missense_Mutation_p.R300Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.R349Q	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	349					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.R349Q(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)	CAGTGTAATCGACATAAACCC	0.453																																					p.R349Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1046A	6						.						173.0	154.0	160.0					6																	102247617		2203	4299	6502	102354310	SO:0001583	missense	2898	exon7				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.1046G>A	6.37:g.102247617G>A	ENSP00000397026:p.Arg349Gln		102354310	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041682	0.93685	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.3	5.3	0.74995	Extracellular ligand-binding receptor (1);	0.142712	0.48286	D	0.000194	T	0.31199	0.0789	M	0.62016	1.91	0.54753	D	0.999988	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.62740	0.748;0.906;0.748	T	0.01600	-1.1315	10	0.22109	T	0.4	.	18.9405	0.92604	0.0:0.0:1.0:0.0	.	349;349;349	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	Q	349;349;349;349;349;349;300;311;62	ENSP00000397026:R349Q;ENSP00000405596:R349Q;ENSP00000358134:R349Q;ENSP00000358133:R349Q;ENSP00000313276:R349Q;ENSP00000358130:R300Q;ENSP00000391988:R62Q	ENSP00000313276:R349Q	R	+	2	0	GRIK2	102354310	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.447000	0.97595	2.464000	0.83262	0.655000	0.94253	CGA		0.453	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
BVES	11149	broad.mit.edu	37	6	105564651	105564651	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:105564651T>G	ENST00000314641.5	-	6	957	c.741A>C	c.(739-741)gaA>gaC	p.E247D	BVES_ENST00000336775.5_Missense_Mutation_p.E247D|BVES_ENST00000446408.2_Missense_Mutation_p.E247D	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	247					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.E247D(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ACCTAAAGATTTCATACAAGA	0.333																																					p.E247D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A741C	6						.						75.0	69.0	71.0					6																	105564651		2202	4296	6498	105671344	SO:0001583	missense	11149	exon6			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.741A>C	6.37:g.105564651T>G	ENSP00000313172:p.Glu247Asp		105671344	NM_007073	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233238	0.58886	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31769	1.48;1.48;1.48	5.55	1.8	0.24995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	L	0.54323	1.7	0.46458	D	0.999055	D	0.67145	0.996	D	0.68483	0.958	T	0.07597	-1.0764	10	0.17369	T	0.5	-34.9706	9.2189	0.37364	0.0:0.2896:0.0:0.7104	.	247	Q8NE79	POPD1_HUMAN	D	247	ENSP00000313172:E247D;ENSP00000337259:E247D;ENSP00000397310:E247D	ENSP00000313172:E247D	E	-	3	2	BVES	105671344	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.677000	0.37576	0.455000	0.26910	0.528000	0.53228	GAA		0.333	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
GCNT2	2651	broad.mit.edu	37	6	10529601	10529601	+	Missense_Mutation	SNP	G	G	A	rs368989684		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:10529601G>A	ENST00000379597.3	+	1	1013	c.457G>A	c.(457-459)Gct>Act	p.A153T	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.A153T|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	153					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.A153T(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)		TGCTTTTCTGGCTTCCAAGAA	0.527																																					p.A153T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G457A	6						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	63.0	58.0	59.0		457	5.5	1.0	6		59	0,8600		0,0,4300	no	missense	GCNT2	NM_145649.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		153/403	10529601	1,13005	2203	4300	6503	10637587	SO:0001583	missense	2651	exon3			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.457G>A	6.37:g.10529601G>A	ENSP00000368917:p.Ala153Thr		10637587	NM_145649		Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075096	0.55646	2.27E-4	0.0	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.11821	2.74;2.74	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	M	0.84219	2.685	0.80722	D	1	P;P	0.42649	0.786;0.786	P;P	0.52031	0.688;0.688	T	0.00918	-1.1515	10	0.33940	T	0.23	-17.8152	18.9321	0.92570	0.0:0.0:1.0:0.0	.	153;152	Q8N0V5;Q08M29	GNT2A_HUMAN;.	T	153	ENSP00000419411:A153T;ENSP00000368917:A153T	ENSP00000368917:A153T	A	+	1	0	GCNT2	10637587	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	3.310000	0.51911	2.567000	0.86603	0.561000	0.74099	GCT		0.527	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
GCNT2	2651	broad.mit.edu	37	6	10556744	10556744	+	Intron	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:10556744G>A	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Missense_Mutation_p.D30N|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						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.D30N(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)		TTTTGGGGGAGATCCAAGCTT	0.383																																					p.D30N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G88A	6						.						98.0	97.0	98.0					6																	10556744		2203	4300	6503	10664730	SO:0001627	intron_variant	2651	exon1			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.925+26675G>A	6.37:g.10556744G>A			10664730	NM_001491		Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	7.142	0.581961	0.13749	.	.	ENSG00000111846	ENST00000316170	T	0.09630	2.96	5.2	3.33	0.38152	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.22954	N	0.998517	B	0.06786	0.001	B	0.04013	0.001	T	0.48055	-0.9068	9	0.16420	T	0.52	.	2.6077	0.04882	0.1484:0.1591:0.5285:0.164	.	30	Q06430	GNT2B_HUMAN	N	30	ENSP00000314844:D30N	ENSP00000314844:D30N	D	+	1	0	GCNT2	10664730	0.000000	0.05858	0.357000	0.25798	0.864000	0.49448	0.055000	0.14229	0.625000	0.30304	0.655000	0.94253	GAT		0.383	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
POPDC3	64208	broad.mit.edu	37	6	105606457	105606457	+	Missense_Mutation	SNP	C	C	T	rs202208117		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:105606457C>T	ENST00000254765.3	-	4	1042	c.764G>A	c.(763-765)aGa>aAa	p.R255K	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	255					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.R255K(1)|p.R255I(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATAGTGATATCTTTTTCCTAT	0.413																																					p.R255K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G764A	6						.						142.0	142.0	142.0					6																	105606457		2203	4300	6503	105713150	SO:0001583	missense	64208	exon4			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.764G>A	6.37:g.105606457C>T	ENSP00000254765:p.Arg255Lys		105713150	NM_022361	B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749220	0.30955	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T	0.27720	1.65	5.99	3.27	0.37495	.	0.377302	0.31051	N	0.008348	T	0.05502	0.0145	N	0.08118	0	0.21020	N	0.999801	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	10	0.45353	T	0.12	-29.8198	9.2738	0.37688	0.0:0.7476:0.1286:0.1238	.	255	Q9HBV1	POPD3_HUMAN	K	255;101	ENSP00000254765:R255K	ENSP00000254765:R255K	R	-	2	0	POPDC3	105713150	0.859000	0.29813	0.981000	0.43875	0.812000	0.45895	1.584000	0.36589	0.424000	0.26061	0.591000	0.81541	AGA		0.413	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361	
AIM1	202	broad.mit.edu	37	6	106973037	106973037	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:106973037C>A	ENST00000369066.3	+	3	3538	c.3051C>A	c.(3049-3051)ctC>ctA	p.L1017L		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.L1017L(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)		AAAATAAACTCAATCCCCGAC	0.373																																					p.L1017L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3051A	6						.						183.0	177.0	179.0					6																	106973037		2203	4300	6503	107079730	SO:0001819	synonymous_variant	202	exon3			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.3051C>A	6.37:g.106973037C>A			107079730	NM_001624	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	CCDS34506.1																																																																																				0.373	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
QRSL1	55278	broad.mit.edu	37	6	107100203	107100203	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:107100203C>T	ENST00000369046.4	+	6	781	c.677C>T	c.(676-678)tCg>tTg	p.S226L	QRSL1_ENST00000369044.1_Missense_Mutation_p.S226L	NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1									p.S226L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CTGGTGAATTCGATGGATGTG	0.438																																					p.S226L	NSCLC(192;2127 2142 11668 26277 49545)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C677T	6						.						113.0	102.0	106.0					6																	107100203		2203	4300	6503	107206896	SO:0001583	missense	55278	exon6			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.677C>T	6.37:g.107100203C>T	ENSP00000358042:p.Ser226Leu		107206896	NM_018292		Missense_Mutation	SNP	ENST00000369046.4	37	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466284	0.84425	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.58506	0.33;0.33	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	H	0.95151	3.63	0.80722	D	1	D;P	0.56521	0.976;0.794	P;B	0.51516	0.672;0.174	D	0.83490	0.0069	10	0.87932	D	0	-10.9476	20.3495	0.98807	0.0:1.0:0.0:0.0	.	226;226	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	L	226	ENSP00000358042:S226L;ENSP00000358040:S226L	ENSP00000358040:S226L	S	+	2	0	QRSL1	107206896	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.416000	0.80143	2.814000	0.96858	0.591000	0.81541	TCG		0.438	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292	
NR2E1	7101	broad.mit.edu	37	6	108502092	108502092	+	Missense_Mutation	SNP	G	G	A	rs148906882		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:108502092G>A	ENST00000368986.4	+	7	1529	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	NR2E1_ENST00000368983.3_Missense_Mutation_p.R311Q	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	274	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R274Q(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GTGGTGGCTCGATTTAGACAA	0.433																																					p.R274Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G821A	6						.						143.0	135.0	138.0					6																	108502092		2203	4300	6503	108608785	SO:0001583	missense	7101	exon7			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.821G>A	6.37:g.108502092G>A	ENSP00000357982:p.Arg274Gln		108608785	NM_003269	Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464826	0.43839	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	T;T	0.52754	0.65;0.65	5.02	5.02	0.67125	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.093547	0.64402	D	0.000001	T	0.28665	0.0710	L	0.38838	1.175	0.80722	D	1	B	0.25667	0.131	B	0.15870	0.014	T	0.16867	-1.0388	10	0.72032	D	0.01	.	18.5138	0.90928	0.0:0.0:1.0:0.0	.	274	Q9Y466	NR2E1_HUMAN	Q	274;311	ENSP00000357982:R274Q;ENSP00000357979:R311Q	ENSP00000357979:R311Q	R	+	2	0	NR2E1	108608785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.379000	0.79691	2.614000	0.88457	0.655000	0.94253	CGA		0.433	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2		
LACE1	246269	broad.mit.edu	37	6	108840922	108840922	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:108840922C>T	ENST00000368977.4	+	12	1412	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	409						mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.S409L(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)		TGCTCTGCGTCGACTCCTATA	0.383																																					p.S409L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1226T	6						.						149.0	142.0	144.0					6																	108840922		2203	4300	6503	108947615	SO:0001583	missense	246269	exon12			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.1226C>T	6.37:g.108840922C>T	ENSP00000357973:p.Ser409Leu		108947615	NM_145315	Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.436|7.436	0.639615|0.639615	0.14386|0.14386	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977	.|.	.|.	.|.	5.82|5.82	2.01|2.01	0.26516|0.26516	.|.	.|0.682756	.|0.15037	.|N	.|0.284113	.|T	.|0.13243	.|0.0321	L|L	0.39397|0.39397	1.21|1.21	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.10450	.|0.005	.|T	.|0.27536	.|-1.0071	.|9	.|0.52906	.|T	.|0.07	1.4326|1.4326	5.1473|5.1473	0.14991|0.14991	0.2478:0.5516:0.0:0.2006|0.2478:0.5516:0.0:0.2006	.|.	.|409	.|Q8WV93	.|LACE1_HUMAN	X|L	277|409	.|.	.|ENSP00000357973:S409L	R|S	+|+	1|2	2|0	LACE1|LACE1	108947615|108947615	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.177000|0.177000	0.22998|0.22998	-0.965000|-0.965000	0.03829|0.03829	0.085000|0.085000	0.17107|0.17107	-0.258000|-0.258000	0.10820|0.10820	CGA|TCG		0.383	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	
GCM2	9247	broad.mit.edu	37	6	10874992	10874992	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:10874992C>A	ENST00000379491.4	-	5	904	c.757G>T	c.(757-759)Gac>Tac	p.D253Y	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	253					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.D253Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGCATTTTGTCTCCTTGAAAG	0.463																																					p.D253Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757T	6						.						155.0	148.0	150.0					6																	10874992		2203	4300	6503	10982978	SO:0001583	missense	9247	exon5			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.757G>T	6.37:g.10874992C>A	ENSP00000368805:p.Asp253Tyr		10982978	NM_004752	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737324	0.49045	.	.	ENSG00000124827	ENST00000379491	T	0.72505	-0.66	5.5	4.62	0.57501	.	0.141220	0.64402	D	0.000006	T	0.63022	0.2476	M	0.68952	2.095	0.80722	D	1	P	0.50066	0.931	P	0.46975	0.533	T	0.69815	-0.5043	10	0.72032	D	0.01	-15.7614	10.9317	0.47222	0.0:0.7983:0.1315:0.0702	.	253	O75603	GCM2_HUMAN	Y	253	ENSP00000368805:D253Y	ENSP00000368805:D253Y	D	-	1	0	GCM2	10982978	0.605000	0.26941	0.330000	0.25442	0.982000	0.71751	1.461000	0.35255	1.426000	0.47256	0.650000	0.86243	GAC		0.463	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
GCM2	9247	broad.mit.edu	37	6	10877554	10877554	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:10877554C>T	ENST00000379491.4	-	2	309	c.162G>A	c.(160-162)gaG>gaA	p.E54E	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	54					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.E54E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTGCCTTCTTCTCATCGCTGC	0.572																																					p.E54E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G162A	6						.						101.0	80.0	87.0					6																	10877554		2203	4300	6503	10985540	SO:0001819	synonymous_variant	9247	exon2			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.162G>A	6.37:g.10877554C>T			10985540	NM_004752	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	CCDS4517.1																																																																																				0.572	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
SYCP2L	221711	broad.mit.edu	37	6	10894415	10894415	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:10894415T>G	ENST00000283141.6	+	4	610	c.314T>G	c.(313-315)aTt>aGt	p.I105S	SYCP2L_ENST00000543878.1_De_novo_Start_InFrame|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	105						nucleus (GO:0005634)		p.I105S(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCTCTGCTAATTCGGCAGGGA	0.373																																					p.I105S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T314G	6						.						120.0	117.0	118.0					6																	10894415		1849	4099	5948	11002401	SO:0001583	missense	221711	exon4			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.314T>G	6.37:g.10894415T>G	ENSP00000283141:p.Ile105Ser		11002401	NM_001040274	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686730	0.68157	.	.	ENSG00000153157	ENST00000283141	T	0.29142	1.58	5.43	5.43	0.79202	.	0.271252	0.31821	N	0.007014	T	0.43919	0.1269	M	0.76328	2.33	0.80722	D	1	D	0.61080	0.989	P	0.61201	0.885	T	0.50242	-0.8851	10	0.87932	D	0	-11.6347	14.3024	0.66362	0.0:0.0:0.0:1.0	.	105	Q5T4T6	SYC2L_HUMAN	S	105	ENSP00000283141:I105S	ENSP00000283141:I105S	I	+	2	0	SYCP2L	11002401	1.000000	0.71417	0.991000	0.47740	0.511000	0.34104	4.623000	0.61247	2.054000	0.61138	0.459000	0.35465	ATT		0.373	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
SYCP2L	221711	broad.mit.edu	37	6	10930629	10930629	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:10930629C>A	ENST00000283141.6	+	19	1811	c.1515C>A	c.(1513-1515)ttC>ttA	p.F505L	SYCP2L_ENST00000543878.1_Missense_Mutation_p.L288I|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	505						nucleus (GO:0005634)		p.F505L(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AACATCTCTTCTCTGAGAGTA	0.338																																					p.F505L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1515A	6						.						77.0	72.0	73.0					6																	10930629		1818	4079	5897	11038615	SO:0001583	missense	221711	exon19			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1515C>A	6.37:g.10930629C>A	ENSP00000283141:p.Phe505Leu		11038615	NM_001040274	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.185|4.185	0.032878|0.032878	0.08101|0.08101	.|.	.|.	ENSG00000153157|ENSG00000153157	ENST00000283141|ENST00000543878	T|T	0.23754|0.46451	1.89|0.87	5.39|5.39	2.48|2.48	0.30137|0.30137	.|.	0.177164|.	0.42053|.	N|.	0.000773|.	T|T	0.16214|0.16214	0.0390|0.0390	L|L	0.27053|0.27053	0.805|0.805	0.51482|0.51482	D|D	0.999923|0.999923	B|P	0.23735|0.40180	0.09|0.705	B|B	0.23419|0.41510	0.046|0.359	T|T	0.02781|0.02781	-1.1111|-1.1111	10|9	0.02654|0.48119	T|T	1|0.1	-0.168|-0.168	7.3566|7.3566	0.26723|0.26723	0.0:0.692:0.0:0.308|0.0:0.692:0.0:0.308	.|.	505|288	Q5T4T6|B4DFB8	SYC2L_HUMAN|.	L|I	505|288	ENSP00000283141:F505L|ENSP00000440676:L288I	ENSP00000283141:F505L|ENSP00000440676:L288I	F|L	+|+	3|1	2|0	SYCP2L|SYCP2L	11038615|11038615	0.905000|0.905000	0.30787|0.30787	0.358000|0.358000	0.25811|0.25811	0.494000|0.494000	0.33585|0.33585	0.032000|0.032000	0.13732|0.13732	0.693000|0.693000	0.31634|0.31634	0.650000|0.650000	0.86243|0.86243	TTC|CTC		0.338	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
LACE1	246269	broad.mit.edu	37	6	108843515	108843515	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:108843515C>T	ENST00000368977.4	+	13	1519	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	445						mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.L445F(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)		AGCAGAAGGACTCTCCATGTT	0.358																																					p.L445F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333T	6						.						72.0	67.0	69.0					6																	108843515		2203	4300	6503	108950208	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.1333C>T	6.37:g.108843515C>T	ENSP00000357973:p.Leu445Phe		108950208	NM_145315	Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239658	0.58995	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.86	4.99	0.66335	.	0.064952	0.64402	D	0.000009	T	0.51652	0.1687	L	0.45137	1.4	0.80722	D	1	D	0.54047	0.964	P	0.53809	0.735	T	0.48433	-0.9036	9	0.40728	T	0.16	-9.2566	14.0711	0.64861	0.0:0.9274:0.0:0.0726	.	445	Q8WV93	LACE1_HUMAN	F	445	.	ENSP00000357973:L445F	L	+	1	0	LACE1	108950208	1.000000	0.71417	0.952000	0.39060	0.995000	0.86356	4.513000	0.60476	2.777000	0.95525	0.655000	0.94253	CTC		0.358	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	
CDC40	51362	broad.mit.edu	37	6	110550122	110550122	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:110550122T>G	ENST00000368932.1	+	15	1606	c.1505T>G	c.(1504-1506)tTt>tGt	p.F502C	CDC40_ENST00000445340.2_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.F502C|CDC40_ENST00000368930.1_Missense_Mutation_p.F502C			O60508	PRP17_HUMAN	cell division cycle 40	502					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)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.F502C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AAAAAAATTTTTAAGGGCCAT	0.338																																					p.F502C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1505G	6						.						38.0	42.0	41.0					6																	110550122		2201	4296	6497	110656815	SO:0001583	missense	51362	exon14			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1505T>G	6.37:g.110550122T>G	ENSP00000357928:p.Phe502Cys		110656815	NM_015891	B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461650	0.84425	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.71	5.71	0.89125	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	0.92528	0.7627	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94419	0.7639	10	0.87932	D	0	-25.3223	15.9781	0.80086	0.0:0.0:0.0:1.0	.	502	O60508	PRP17_HUMAN	C	502	ENSP00000357928:F502C;ENSP00000357929:F502C;ENSP00000357926:F502C;ENSP00000304370:F502C	ENSP00000304370:F502C	F	+	2	0	CDC40	110656815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.482000	0.81143	2.171000	0.68590	0.533000	0.62120	TTT		0.338	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891	
METTL24	728464	broad.mit.edu	37	6	110567228	110567228	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:110567228G>T	ENST00000338882.4	-	5	1021	c.1022C>A	c.(1021-1023)cCt>cAt	p.P341H	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	341						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)	p.P341H(1)									GAATAGCTGAGGTTTAGATAA	0.408																																					p.P341H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1022A	6						.						186.0	163.0	170.0					6																	110567228		1568	3582	5150	110673921	SO:0001583	missense	728464	exon5				CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.1022C>A	6.37:g.110567228G>T	ENSP00000344071:p.Pro341His		110673921	NM_001123364	Q6ZSU5	Missense_Mutation	SNP	ENST00000338882.4	37	CCDS43489.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629646	0.87660	.	.	ENSG00000053328	ENST00000338882	T	0.48522	0.81	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	L	0.51422	1.61	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.53648	-0.8409	10	0.44086	T	0.13	-14.3896	20.4581	0.99154	0.0:0.0:1.0:0.0	.	341	Q5JXM2	CF186_HUMAN	H	341	ENSP00000344071:P341H	ENSP00000344071:P341H	P	-	2	0	C6orf186	110673921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	CCT		0.408	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364	
ELOVL2	54898	broad.mit.edu	37	6	11005684	11005684	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:11005684C>A	ENST00000354666.3	-	3	259	c.176G>T	c.(175-177)aGa>aTa	p.R59I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	59					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)	p.R59I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AAGAGCAGGTCTGTTCTTCAT	0.438																																					p.R59I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176T	6						.						106.0	97.0	100.0					6																	11005684		2203	4300	6503	11113670	SO:0001583	missense	54898	exon3			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.176G>T	6.37:g.11005684C>A	ENSP00000346693:p.Arg59Ile		11113670	NM_017770	Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213766	0.95069	.	.	ENSG00000197977	ENST00000354666	T	0.27720	1.65	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.93854	3.465	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	T	0.72007	-0.4420	10	0.72032	D	0.01	-2.3805	20.3932	0.98965	0.0:1.0:0.0:0.0	.	59	Q9NXB9	ELOV2_HUMAN	I	59	ENSP00000346693:R59I	ENSP00000346693:R59I	R	-	2	0	ELOVL2	11113670	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.558000	0.73942	2.824000	0.97209	0.655000	0.94253	AGA		0.438	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1		
ERVFRD-1	405754	broad.mit.edu	37	6	11104869	11104869	+	Silent	SNP	C	C	T	rs559395063		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:11104869C>T	ENST00000472091.1	-	2	1050	c.675G>A	c.(673-675)gcG>gcA	p.A225A	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Silent_p.A225A	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	225					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.A225A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						GAACCCATTCCGCTGTAGAGC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19013	0.0		0.0	False		,,,				2504	0.001				p.A225A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G675A	6						.						41.0	46.0	44.0					6																	11104869		2203	4300	6503	11212855	SO:0001819	synonymous_variant	405754	exon2			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.675G>A	6.37:g.11104869C>T			11212855	NM_207582		Silent	SNP	ENST00000472091.1	37	CCDS4519.1																																																																																				0.473	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582	
SLC22A16	85413	broad.mit.edu	37	6	110763471	110763471	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:110763471C>T	ENST00000368919.3	-	4	1225	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	SLC22A16_ENST00000439654.1_Missense_Mutation_p.E387K|SLC22A16_ENST00000330550.4_Missense_Mutation_p.E353K|RN7SL617P_ENST00000485298.2_RNA	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	387					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.E387K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TTTAAGTATTCATTGCCTCCT	0.388																																					p.E387K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1159A	6						.						66.0	65.0	65.0					6																	110763471		2203	4300	6503	110870164	SO:0001583	missense	85413	exon4				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1159G>A	6.37:g.110763471C>T	ENSP00000357915:p.Glu387Lys		110870164	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354889	0.41700	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.24	4.89	4.01	0.46588	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.286677	0.38837	N	0.001549	T	0.51278	0.1665	L	0.33792	1.035	0.80722	D	1	D;P	0.53619	0.961;0.952	P;B	0.48270	0.572;0.436	T	0.56306	-0.8001	10	0.07813	T	0.8	.	13.182	0.59660	0.0:0.9218:0.0:0.0782	.	387;353	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	K	387;304;353;387;217;344	ENSP00000357915:E387K;ENSP00000395642:E304K;ENSP00000328583:E353K;ENSP00000408799:E387K;ENSP00000409306:E217K;ENSP00000416310:E344K	ENSP00000328583:E353K	E	-	1	0	SLC22A16	110870164	1.000000	0.71417	0.629000	0.29254	0.953000	0.61014	3.028000	0.49705	1.175000	0.42826	0.655000	0.94253	GAA		0.388	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125	
FYN	2534	broad.mit.edu	37	6	112025268	112025268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:112025268G>A	ENST00000354650.3	-	7	1087	c.481C>T	c.(481-483)Cga>Tga	p.R161*	FYN_ENST00000368678.4_Nonsense_Mutation_p.R161*|FYN_ENST00000368682.3_Nonsense_Mutation_p.R161*|FYN_ENST00000368667.2_Nonsense_Mutation_p.R161*|FYN_ENST00000538466.1_Nonsense_Mutation_p.R161*|FYN_ENST00000229471.4_Nonsense_Mutation_p.R161*|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000229470.5_Nonsense_Mutation_p.R112*|FYN_ENST00000356013.2_Nonsense_Mutation_p.R161*	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	161	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R161*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AATAGCTGTCGCTCAGCATCT	0.383																																					p.R161X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C481T	6						.						124.0	117.0	119.0					6																	112025268		2203	4300	6503	112131961	SO:0001587	stop_gained	2534	exon7			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.481C>T	6.37:g.112025268G>A	ENSP00000346671:p.Arg161*		112131961	NM_002037	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Nonsense_Mutation	SNP	ENST00000354650.3	37	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532363	0.85812	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792;ENST00000462856;ENST00000520518;ENST00000517419	.	.	.	6.07	1.74	0.24563	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6558	0.77133	0.0:0.0:0.2436:0.7564	.	.	.	.	X	161;161;161;161;161;112;161;161;112;161;161;161	.	ENSP00000229470:R112X	R	-	1	2	FYN	112131961	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	3.877000	0.56123	0.395000	0.25257	-0.182000	0.12963	CGA		0.383	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1		
LAMA4	3910	broad.mit.edu	37	6	112443364	112443364	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:112443364G>A	ENST00000230538.7	-	32	4725	c.4328C>T	c.(4327-4329)gCt>gTt	p.A1443V	LAMA4_ENST00000424408.2_Missense_Mutation_p.A1436V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1436V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1436V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1443					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.A1436V(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)		GAGTTTCAGAGCAACAGGATC	0.428																																					p.A1436V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4307T	6						.						121.0	116.0	118.0					6																	112443364		2203	4300	6503	112550057	SO:0001583	missense	3910	exon32				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.4328C>T	6.37:g.112443364G>A	ENSP00000230538:p.Ala1443Val		112550057	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919275	0.52546	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13657	2.59;2.57;2.57;2.57	5.62	4.75	0.60458	.	0.152253	0.64402	D	0.000020	T	0.03220	0.0094	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.29971	-0.9994	10	0.41790	T	0.15	.	14.7735	0.69699	0.0:0.7212:0.2788:0.0	.	1443;1436	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1443;1436;1436;1436	ENSP00000230538:A1443V;ENSP00000429488:A1436V;ENSP00000374114:A1436V;ENSP00000416470:A1436V	ENSP00000230538:A1443V	A	-	2	0	LAMA4	112550057	0.978000	0.34361	0.997000	0.53966	0.880000	0.50808	0.743000	0.26231	1.372000	0.46190	-0.270000	0.10280	GCT		0.428	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
LAMA4	3910	broad.mit.edu	37	6	112512941	112512941	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:112512941G>T	ENST00000230538.7	-	6	1012	c.615C>A	c.(613-615)gtC>gtA	p.V205V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Silent_p.V205V|LAMA4_ENST00000522006.1_Silent_p.V205V|LAMA4_ENST00000389463.4_Silent_p.V205V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	205	Laminin EGF-like 3. {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.V205V(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)		ACTGGCCAGTGACTTCATCAC	0.478																																					p.V205V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615A	6						.						98.0	84.0	89.0					6																	112512941		2203	4300	6503	112619634	SO:0001819	synonymous_variant	3910	exon6				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.615C>A	6.37:g.112512941G>T			112619634	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.890|9.890	1.204012|1.204012	0.22205|0.22205	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000521732|ENST00000368640	.|.	.|.	.|.	5.7|5.7	1.78|1.78	0.24846|0.24846	.|.	.|.	.|.	.|.	.|.	T|.	0.43055|.	0.1230|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34204|.	-0.9838|.	4|.	.|.	.|.	.|.	.|.	8.7858|8.7858	0.34821|0.34821	0.2159:0.228:0.5561:0.0|0.2159:0.228:0.5561:0.0	.|.	.|.	.|.	.|.	N|X	25|9	.|.	.|.	H|S	-|-	1|2	0|0	LAMA4|LAMA4	112619634|112619634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	1.104000|1.104000	0.31074|0.31074	0.773000|0.773000	0.33404|0.33404	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.478	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
HS3ST5	222537	broad.mit.edu	37	6	114378448	114378448	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:114378448G>T	ENST00000312719.5	-	5	2202	c.1014C>A	c.(1012-1014)atC>atA	p.I338I	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I338I			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	338					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.I338I(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCTCCCAGTGATCTGGTAAA	0.423																																					p.I338I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1014A	6						.						59.0	63.0	61.0					6																	114378448		2203	4300	6503	114485141	SO:0001819	synonymous_variant	222537	exon2			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.1014C>A	6.37:g.114378448G>T			114485141	NM_153612	A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	CCDS34517.1																																																																																				0.423	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
HS3ST5	222537	broad.mit.edu	37	6	114378953	114378953	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:114378953T>C	ENST00000312719.5	-	5	1697	c.509A>G	c.(508-510)tAc>tGc	p.Y170C	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.Y170C			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	170					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.Y170C(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTTCATTTTGTAAATCCTTTC	0.418																																					p.Y170C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A509G	6						.						172.0	174.0	173.0					6																	114378953		2203	4300	6503	114485646	SO:0001583	missense	222537	exon2			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.509A>G	6.37:g.114378953T>C	ENSP00000427888:p.Tyr170Cys		114485646	NM_153612	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	T	8.495	0.863001	0.17178	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.55588	0.51;0.51	6.03	4.85	0.62838	Sulfotransferase domain (1);	0.057487	0.64402	D	0.000001	T	0.47002	0.1422	L	0.58510	1.815	0.50467	D	0.999874	D	0.65815	0.995	P	0.51833	0.681	T	0.47711	-0.9096	10	0.41790	T	0.15	.	13.5124	0.61519	0.0:0.0:0.1303:0.8697	.	170	Q8IZT8	HS3S5_HUMAN	C	170	ENSP00000427888:Y170C;ENSP00000440332:Y170C	ENSP00000427888:Y170C	Y	-	2	0	HS3ST5	114485646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.833000	0.62766	1.085000	0.41206	0.533000	0.62120	TAC		0.418	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
FRK	2444	broad.mit.edu	37	6	116277766	116277766	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:116277766C>A	ENST00000606080.1	-	5	1253	c.807G>T	c.(805-807)atG>atT	p.M269I	FRK_ENST00000538210.1_Missense_Mutation_p.M127I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.M269I(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)	CATTTGGATCCATTGAACCTG	0.423																																					p.M269I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G807T	6						.						113.0	120.0	117.0					6																	116277766		2203	4300	6503	116384459	SO:0001583	missense	2444	exon5			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.807G>T	6.37:g.116277766C>A	ENSP00000476145:p.Met269Ile		116384459	NM_002031	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716586	0.89205	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82619	-1.63;-1.63	5.74	5.74	0.90152	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	0.81626	0.4862	N	0.11064	0.09	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.86282	0.1668	10	0.87932	D	0	.	19.919	0.97077	0.0:1.0:0.0:0.0	.	269	P42685	FRK_HUMAN	I	269;127	ENSP00000357615:M269I;ENSP00000443075:M127I	ENSP00000357615:M269I	M	-	3	0	FRK	116384459	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.707000	0.92482	0.655000	0.94253	ATG		0.423	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
FRK	2444	broad.mit.edu	37	6	116289833	116289833	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:116289833C>T	ENST00000606080.1	-	3	982	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	FRK_ENST00000538210.1_Missense_Mutation_p.R37Q	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	179	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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.R179Q(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)	GATTCTTCTTCGCGTGAGAAA	0.403																																					p.R179Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G536A	6						.						147.0	141.0	143.0					6																	116289833		2203	4300	6503	116396526	SO:0001583	missense	2444	exon3			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.536G>A	6.37:g.116289833C>T	ENSP00000476145:p.Arg179Gln		116396526	NM_002031	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	C	6.456	0.452338	0.12283	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.25085	1.82;1.82	5.98	0.725	0.18242	SH2 motif (4);	0.607667	0.15135	N	0.278651	T	0.05640	0.0148	L	0.37897	1.145	0.09310	N	0.999992	B	0.24618	0.107	B	0.17722	0.019	T	0.36578	-0.9742	10	0.33940	T	0.23	.	5.4188	0.16388	0.0:0.4579:0.2421:0.3	.	179	P42685	FRK_HUMAN	Q	179;37	ENSP00000357615:R179Q;ENSP00000443075:R37Q	ENSP00000357615:R179Q	R	-	2	0	FRK	116396526	0.000000	0.05858	0.001000	0.08648	0.311000	0.27955	-0.291000	0.08343	-0.152000	0.11156	-0.282000	0.10007	CGA		0.403	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
TMEM170B	100113407	broad.mit.edu	37	6	11575684	11575684	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:11575684T>C	ENST00000379426.1	+	3	289	c.289T>C	c.(289-291)Tac>Cac	p.Y97H	TMEM170B_ENST00000543875.1_Missense_Mutation_p.Y97H	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	97						integral component of membrane (GO:0016021)		p.Y97H(1)		large_intestine(3)|lung(5)	8						AGCGGGCATTTACAGAGTAGC	0.483																																					p.Y97H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T289C	6						.						163.0	158.0	160.0					6																	11575684		1938	4128	6066	11683670	SO:0001583	missense	100113407	exon3				CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.289T>C	6.37:g.11575684T>C	ENSP00000368737:p.Tyr97His		11683670	NM_001100829		Missense_Mutation	SNP	ENST00000379426.1	37	CCDS43425.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573745	0.65765	.	.	ENSG00000205269	ENST00000543875;ENST00000379426	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	L	0.39397	1.21	0.58432	D	0.999996	D	0.76494	0.999	D	0.72338	0.977	T	0.58702	-0.7590	9	0.34782	T	0.22	-0.1419	15.3362	0.74255	0.0:0.0:0.0:1.0	.	97	Q5T4T1	T170B_HUMAN	H	97	.	ENSP00000368737:Y97H	Y	+	1	0	TMEM170B	11683670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.690000	0.84178	2.024000	0.59613	0.472000	0.43445	TAC		0.483	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829	
TSPYL4	23270	broad.mit.edu	37	6	116574721	116574721	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:116574721C>T	ENST00000420283.1	-	1	540	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	151					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.E151K(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)		GTCGTCACTTCCTTGGCCTTC	0.577																																					p.E151K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451A	6						.						32.0	29.0	30.0					6																	116574721		1790	3807	5597	116681414	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.451G>A	6.37:g.116574721C>T	ENSP00000410943:p.Glu151Lys		116681414	NM_021648	B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	ENST00000420283.1	37	CCDS5106.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327514	0.41197	.	.	ENSG00000187189	ENST00000420283	T	0.20332	2.08	4.19	4.19	0.49359	.	.	.	.	.	T	0.10121	0.0248	L	0.49640	1.575	0.31012	N	0.719088	B	0.12013	0.005	B	0.17722	0.019	T	0.07271	-1.0781	9	0.22109	T	0.4	-3.9209	14.8237	0.70094	0.0:1.0:0.0:0.0	.	151	Q9UJ04	TSYL4_HUMAN	K	151	ENSP00000410943:E151K	ENSP00000410943:E151K	E	-	1	0	TSPYL4	116681414	0.970000	0.33590	0.990000	0.47175	0.808000	0.45660	1.904000	0.39868	2.628000	0.89032	0.462000	0.41574	GAA		0.577	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2		
DSE	29940	broad.mit.edu	37	6	116756758	116756758	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:116756758G>A	ENST00000331677.3	+	7	1571	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	DSE_ENST00000452085.3_Missense_Mutation_p.G376D|DSE_ENST00000537543.1_Missense_Mutation_p.G395D|DSE_ENST00000359564.2_Missense_Mutation_p.G376D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	376					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.G376D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGTATGATGGCAGCTTGAAA	0.408																																					p.G376D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1127A	6						.						78.0	78.0	78.0					6																	116756758		2203	4300	6503	116863451	SO:0001583	missense	29940	exon6			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1127G>A	6.37:g.116756758G>A	ENSP00000332151:p.Gly376Asp		116863451	NM_001080976	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647304	0.67358	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.99	5.99	0.97316	.	0.107851	0.64402	D	0.000006	T	0.03915	0.0110	N	0.08118	0	0.21499	N	0.999663	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33904	-0.9850	10	0.30854	T	0.27	-11.7541	17.5034	0.87738	0.0:0.876:0.124:0.0	.	395;376	B7Z765;Q9UL01	.;DSE_HUMAN	D	376;395;376;376	ENSP00000404049:G376D;ENSP00000441152:G395D;ENSP00000332151:G376D;ENSP00000352567:G376D	ENSP00000332151:G376D	G	+	2	0	DSE	116863451	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.854000	0.62918	1.557000	0.49525	-0.120000	0.15030	GGC		0.408	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
FAM26F	441168	broad.mit.edu	37	6	116784662	116784662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:116784662G>T	ENST00000368605.1	+	3	837	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Nonsense_Mutation_p.E76*	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	248					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.E248*(1)		large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		GCATCCAAAAGAATATAACAC	0.403																																					p.E248X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G742T	6						.						125.0	128.0	127.0					6																	116784662		2203	4300	6503	116891355	SO:0001587	stop_gained	441168	exon3			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 187"""	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.742G>T	6.37:g.116784662G>T	ENSP00000357594:p.Glu248*		116891355	NM_001010919	B9EJB0|Q5R3K4	Nonsense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857841	0.32791	.	.	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	.	.	.	5.11	-2.25	0.06888	.	1.138190	0.06396	N	0.717958	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	0.0018	8.0057	0.30323	0.353:0.432:0.2151:0.0	.	.	.	.	X	76;248;91	.	ENSP00000357593:E91X	E	+	1	0	FAM26F	116891355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	-0.745000	0.04772	-0.951000	0.02657	GAA		0.403	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919	
RSPH4A	345895	broad.mit.edu	37	6	116948877	116948877	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:116948877G>A	ENST00000229554.5	+	3	1144	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R336H|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	336					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.R336H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGACATACCGCATATTTCTT	0.438									Kartagener syndrome																												p.R336H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007A	6						.						114.0	115.0	115.0					6																	116948877		2203	4300	6503	117055570	SO:0001583	missense	345895	exon3	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1007G>A	6.37:g.116948877G>A	ENSP00000229554:p.Arg336His		117055570	NM_001161664	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862619	0.91511	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.20332	2.08;2.08	5.48	5.48	0.80851	.	0.048492	0.85682	D	0.000000	T	0.45677	0.1354	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.897;1.0	T	0.49725	-0.8909	10	0.51188	T	0.08	-7.8313	16.8276	0.85935	0.0:0.0:1.0:0.0	.	336;336	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	H	336;336;131	ENSP00000357570:R336H;ENSP00000229554:R336H	ENSP00000229554:R336H	R	+	2	0	RSPH4A	117055570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.259000	0.72494	2.542000	0.85734	0.591000	0.81541	CGC		0.438	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
RSPH4A	345895	broad.mit.edu	37	6	116951693	116951693	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:116951693G>A	ENST00000229554.5	+	5	2031	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T	RSPH4A_ENST00000368581.4_Silent_p.E586E|RSPH4A_ENST00000368580.4_Missense_Mutation_p.A385T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	632					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.A632T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGGCCTGGAGCATATGCCTT	0.403									Kartagener syndrome																												p.A632T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1894A	6						.						140.0	116.0	124.0					6																	116951693		2203	4300	6503	117058386	SO:0001583	missense	345895	exon5	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1894G>A	6.37:g.116951693G>A	ENSP00000229554:p.Ala632Thr		117058386	NM_001010892	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902660	0.92035	.	.	ENSG00000111834	ENST00000229554;ENST00000447842;ENST00000368580	T;T	0.25912	1.77;1.77	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.48514	-0.9029	9	0.72032	D	0.01	-21.0458	16.8765	0.86053	0.0:0.0:1.0:0.0	.	632	Q5TD94	RSH4A_HUMAN	T	632;427;385	ENSP00000229554:A632T;ENSP00000357569:A385T	ENSP00000229554:A632T	A	+	1	0	RSPH4A	117058386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.473000	0.81007	2.592000	0.87571	0.591000	0.81541	GCA		0.403	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
GPRC6A	222545	broad.mit.edu	37	6	117114077	117114077	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:117114077A>C	ENST00000310357.3	-	6	2030	c.2009T>G	c.(2008-2010)tTt>tGt	p.F670C	GPRC6A_ENST00000530250.1_Missense_Mutation_p.F495C|GPRC6A_ENST00000368549.3_Missense_Mutation_p.F599C	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	670					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F670C(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCAAAGAGTAAAGCTCACTCC	0.403																																					p.F670C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2009G	6						.						104.0	93.0	97.0					6																	117114077		2203	4300	6503	117220770	SO:0001583	missense	222545	exon6			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2009T>G	6.37:g.117114077A>C	ENSP00000309493:p.Phe670Cys		117220770	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801309	0.70567	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.91295	-2.82;-2.82;-2.82	4.81	4.81	0.61882	GPCR, family 3, C-terminal (2);	0.110120	0.40908	D	0.000982	D	0.95617	0.8575	M	0.91972	3.26	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96607	0.9449	10	0.87932	D	0	.	14.5215	0.67853	1.0:0.0:0.0:0.0	.	599;495;670	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	C	670;599;495	ENSP00000309493:F670C;ENSP00000357537:F599C;ENSP00000433465:F495C	ENSP00000309493:F670C	F	-	2	0	GPRC6A	117220770	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.740000	0.91579	2.017000	0.59298	0.482000	0.46254	TTT		0.403	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
ROS1	6098	broad.mit.edu	37	6	117715350	117715350	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:117715350C>A	ENST00000368508.3	-	10	1337	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R389I	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	380					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.R380I(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)		GAAATACATTCTTTGATAAAG	0.353			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.R380I			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1139T	6						.						52.0	54.0	53.0					6																	117715350		2203	4299	6502	117822043	SO:0001583	missense	6098	exon10			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.1139G>T	6.37:g.117715350C>A	ENSP00000357494:p.Arg380Ile		117822043	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755001	0.69648	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91792	-2.91;-2.91	5.12	3.32	0.38043	.	0.160445	0.43919	D	0.000512	D	0.90435	0.7005	L	0.59436	1.845	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	D	0.90683	0.4607	10	0.72032	D	0.01	.	8.15	0.31134	0.0:0.7539:0.0:0.2461	.	380	P08922	ROS1_HUMAN	I	380;389	ENSP00000357494:R380I;ENSP00000357493:R389I	ENSP00000357493:R389I	R	-	2	0	ROS1	117822043	0.961000	0.32948	0.994000	0.49952	0.983000	0.72400	0.046000	0.14035	1.471000	0.48121	0.650000	0.86243	AGA		0.353	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117715866	117715866	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:117715866T>A	ENST00000368508.3	-	9	1090	c.892A>T	c.(892-894)Aaa>Taa	p.K298*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.K307*	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	298					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.K298*(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)		AGAGAAGTTTTTCTGGATAAA	0.353			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.K298X			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.A892T	6						.						65.0	69.0	67.0					6																	117715866		2203	4300	6503	117822559	SO:0001587	stop_gained	6098	exon9			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.892A>T	6.37:g.117715866T>A	ENSP00000357494:p.Lys298*		117822559	NM_002944	Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	39	7.337567	0.98221	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	4.77	3.63	0.41609	.	0.275955	0.31404	N	0.007720	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5923	0.39554	0.0:0.0845:0.0:0.9155	.	.	.	.	X	298;307	.	ENSP00000357493:K307X	K	-	1	0	ROS1	117822559	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.789000	0.38724	2.077000	0.62373	0.528000	0.53228	AAA		0.353	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
DCBLD1	285761	broad.mit.edu	37	6	117860425	117860425	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:117860425G>A	ENST00000338728.5	+	9	1104	c.984G>A	c.(982-984)agG>agA	p.R328R	DCBLD1_ENST00000296955.8_Silent_p.R328R|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	328	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R328R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AAGGAATTAGGACCACAGGAT	0.274																																					p.R328R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G984A	6						.						50.0	54.0	53.0					6																	117860425		2203	4298	6501	117967118	SO:0001819	synonymous_variant	285761	exon9			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.984G>A	6.37:g.117860425G>A			117967118	NM_173674	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37																																																																																					0.274	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674	
NUS1	116150	broad.mit.edu	37	6	118014217	118014217	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:118014217G>T	ENST00000368494.3	+	2	597	c.428G>T	c.(427-429)aGa>aTa	p.R143I		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	143					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)	p.R143I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		ATTTTCAAAAGAAATAATTCC	0.313																																					p.R143I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G428T	6						.						25.0	27.0	26.0					6																	118014217		2187	4291	6478	118120910	SO:0001583	missense	116150	exon2			BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"""Nogo-B receptor"", ""transport and golgi organization 14 homolog (Drosophila)"""	610463	"""chromosome 6 open reading frame 68"""	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.428G>T	6.37:g.118014217G>T	ENSP00000357480:p.Arg143Ile		118120910	NM_138459	B2RWQ4|O00251	Missense_Mutation	SNP	ENST00000368494.3	37	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193230	0.78902	.	.	ENSG00000153989	ENST00000368494	T	0.18657	2.2	5.68	5.68	0.88126	.	0.095781	0.64402	D	0.000001	T	0.35941	0.0949	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.07139	-1.0788	10	0.62326	D	0.03	-8.1877	13.3746	0.60730	0.0722:0.0:0.9278:0.0	.	143	Q96E22	NGBR_HUMAN	I	143	ENSP00000357480:R143I	ENSP00000357480:R143I	R	+	2	0	NUS1	118120910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.242000	0.65389	2.838000	0.97847	0.655000	0.94253	AGA		0.313	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459	
SLC35F1	222553	broad.mit.edu	37	6	118596709	118596709	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:118596709G>A	ENST00000360388.4	+	5	926	c.725G>A	c.(724-726)cGa>cAa	p.R242Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	242					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R242Q(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TACATCATCCGAACTCTGAGC	0.423																																					p.R242Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725A	6						.						113.0	111.0	112.0					6																	118596709		2203	4300	6503	118703402	SO:0001583	missense	222553	exon5			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.725G>A	6.37:g.118596709G>A	ENSP00000353557:p.Arg242Gln		118703402	NM_001029858	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917089	0.73098	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.07	5.07	0.68467	.	0.144445	0.44285	D	0.000480	T	0.43787	0.1263	L	0.31578	0.945	0.49483	D	0.999794	P	0.52170	0.951	P	0.46659	0.523	T	0.36163	-0.9759	9	0.40728	T	0.16	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	242	Q5T1Q4	S35F1_HUMAN	Q	242	.	ENSP00000353557:R242Q	R	+	2	0	SLC35F1	118703402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.635000	0.74295	2.780000	0.95670	0.655000	0.94253	CGA		0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	
CEP85L	387119	broad.mit.edu	37	6	118802970	118802970	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:118802970C>A	ENST00000368491.3	-	8	2338	c.1717G>T	c.(1717-1719)Gaa>Taa	p.E573*	CEP85L_ENST00000368488.5_Nonsense_Mutation_p.E576*	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	573						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E573*(1)									AACTCCTTTTCTTTCTTTTTC	0.279																																					p.E576X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1726T	6						.						60.0	52.0	54.0					6																	118802970		1791	4059	5850	118909663	SO:0001587	stop_gained	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.1717G>T	6.37:g.118802970C>A	ENSP00000357477:p.Glu573*		118909663	NM_001178035	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Nonsense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756530	0.89843	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	.	.	.	5.05	5.05	0.67936	.	0.123740	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.4144	18.3627	0.90380	0.0:1.0:0.0:0.0	.	.	.	.	X	573;576;576	.	ENSP00000357474:E576X	E	-	1	0	C6orf204	118909663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.211000	0.72182	2.493000	0.84123	0.561000	0.74099	GAA		0.279	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475	
FAM184A	79632	broad.mit.edu	37	6	119301410	119301410	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:119301410C>T	ENST00000338891.7	-	10	2637	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.E732K|FAM184A_ENST00000368475.4_Missense_Mutation_p.E612K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E612K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	732						extracellular space (GO:0005615)		p.E732K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTCAAGCTCTTGCGTAAGC	0.428																																					p.E732K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2194A	6						.						135.0	125.0	128.0					6																	119301410		1899	4129	6028	119343109	SO:0001583	missense	79632	exon10			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2194G>A	6.37:g.119301410C>T	ENSP00000342604:p.Glu732Lys		119343109	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208094	0.95033	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	6.17	6.17	0.99709	.	0.053406	0.85682	D	0.000000	T	0.47002	0.1422	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.80764	0.991;0.994;0.994	T	0.12016	-1.0564	10	0.45353	T	0.12	-19.0233	20.8794	0.99867	0.0:1.0:0.0:0.0	.	732;612;732	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	732;612;612;732	ENSP00000342604:E732K;ENSP00000326608:E612K;ENSP00000357460:E612K;ENSP00000430442:E732K	ENSP00000342604:E732K	E	-	1	0	FAM184A	119343109	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.867000	0.69597	2.941000	0.99782	0.655000	0.94253	GAG		0.428	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
FAM184A	79632	broad.mit.edu	37	6	119341146	119341146	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:119341146C>T	ENST00000338891.7	-	4	1772	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Silent_p.E323E|FAM184A_ENST00000521531.1_Silent_p.E443E|FAM184A_ENST00000368475.4_Silent_p.E323E|FAM184A_ENST00000352896.5_Silent_p.E323E	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	443						extracellular space (GO:0005615)		p.E443E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTTTTACCTTCTCCAGTTCTA	0.398																																					p.E443E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1329A	6						.						156.0	145.0	148.0					6																	119341146		1840	4081	5921	119382845	SO:0001819	synonymous_variant	79632	exon4			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1329G>A	6.37:g.119341146C>T			119382845	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	8.610	0.888811	0.17540	.	.	ENSG00000111879	ENST00000448815	.	.	.	5.64	3.53	0.40419	.	.	.	.	.	T	0.47266	0.1436	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	4	.	.	.	-16.8989	9.6057	0.39632	0.0:0.7089:0.0:0.2911	.	.	.	.	K	29	.	.	R	-	2	0	FAM184A	119382845	0.998000	0.40836	1.000000	0.80357	0.946000	0.59487	0.471000	0.22100	1.374000	0.46228	0.557000	0.71058	AGA		0.398	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
TBC1D32	221322	broad.mit.edu	37	6	121482170	121482170	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:121482170C>A	ENST00000398212.2	-	23	2652	c.2603G>T	c.(2602-2604)aGa>aTa	p.R868I	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.R909I	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	868					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.R868I(1)									AACATGATTTCTCTCCACTGA	0.363																																					p.R868I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2603T	6						.						108.0	100.0	102.0					6																	121482170		1825	4082	5907	121523869	SO:0001583	missense	221322	exon23			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2603G>T	6.37:g.121482170C>A	ENSP00000381270:p.Arg868Ile		121523869	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301267	0.81136	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.26810	1.71;1.71	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.52719	-0.8538	10	0.87932	D	0	.	17.5424	0.87852	0.0:1.0:0.0:0.0	.	909;868	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	I	909;868	ENSP00000275159:R909I;ENSP00000381270:R868I	ENSP00000275159:R909I	R	-	2	0	C6orf170	121523869	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.373000	0.59537	2.140000	0.66376	0.585000	0.79938	AGA		0.363	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
HIVEP1	3096	broad.mit.edu	37	6	12124149	12124149	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:12124149C>T	ENST00000379388.2	+	4	4453	c.4121C>T	c.(4120-4122)aCg>aTg	p.T1374M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1374					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.T1374M(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)				ATTAATTGCACGCAAACGTCA	0.468																																					p.T1374M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4121T	6						.						110.0	109.0	110.0					6																	12124149		2019	4185	6204	12232135	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.4121C>T	6.37:g.12124149C>T	ENSP00000368698:p.Thr1374Met		12232135	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	9.616	1.132436	0.21041	.	.	ENSG00000095951	ENST00000379388	T	0.43294	0.95	5.79	2.34	0.29019	.	0.900067	0.09155	N	0.840939	T	0.10252	0.0251	N	0.20401	0.57	0.80722	D	1	B	0.28667	0.219	B	0.18561	0.022	T	0.28713	-1.0035	9	.	.	.	-1.7975	6.324	0.21232	0.0:0.5186:0.0:0.4814	.	1374	P15822	ZEP1_HUMAN	M	1374	ENSP00000368698:T1374M	.	T	+	2	0	HIVEP1	12232135	0.997000	0.39634	0.310000	0.25168	0.543000	0.35085	2.615000	0.46368	1.059000	0.40554	0.655000	0.94253	ACG		0.468	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
TBC1D32	221322	broad.mit.edu	37	6	121562685	121562685	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:121562685T>G	ENST00000398212.2	-	19	2220	c.2171A>C	c.(2170-2172)aAa>aCa	p.K724T	TBC1D32_ENST00000275159.6_Missense_Mutation_p.K724T	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	724					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.K724T(2)									GCCAAATTTTTTATGCCTGCT	0.378																																					p.K724T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2171C	6						.						88.0	83.0	85.0					6																	121562685		1899	4130	6029	121604384	SO:0001583	missense	221322	exon19			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2171A>C	6.37:g.121562685T>G	ENSP00000381270:p.Lys724Thr		121604384	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357630	0.24598	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.19938	2.11;2.11	5.62	3.17	0.36434	.	0.260649	0.42821	D	0.000648	T	0.08626	0.0214	L	0.47716	1.5	0.33487	D	0.588141	P;B	0.36465	0.554;0.404	B;B	0.35688	0.205;0.208	T	0.07083	-1.0791	10	0.52906	T	0.07	.	10.1567	0.42827	0.0:0.1388:0.0:0.8612	.	724;724	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	T	724	ENSP00000275159:K724T;ENSP00000381270:K724T	ENSP00000275159:K724T	K	-	2	0	C6orf170	121604384	1.000000	0.71417	0.450000	0.26969	0.113000	0.19764	1.771000	0.38542	0.475000	0.27415	0.455000	0.32223	AAA		0.378	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
EDN1	1906	broad.mit.edu	37	6	12292730	12292730	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:12292730T>G	ENST00000379375.5	+	2	488	c.221T>G	c.(220-222)gTc>gGc	p.V74G		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	74		Cleavage; by KEL.			artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|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 endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)	p.V74G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ATCATTTGGGTCAACACTCCC	0.542																																					p.V73G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T218G	6						.						80.0	75.0	77.0					6																	12292730		2203	4300	6503	12400716	SO:0001583	missense	1906	exon2			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.221T>G	6.37:g.12292730T>G	ENSP00000368683:p.Val74Gly		12400716	NM_001168319	Q96DA1	Missense_Mutation	SNP	ENST00000379375.5	37	CCDS4522.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749906	0.89753	.	.	ENSG00000078401	ENST00000379375	D	0.90732	-2.72	5.79	5.79	0.91817	Endothelin-like toxin (1);	0.272817	0.38605	N	0.001632	D	0.93677	0.7980	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.67548	0.952;0.952	D	0.94515	0.7722	10	0.87932	D	0	-30.7628	16.1343	0.81471	0.0:0.0:0.0:1.0	.	74;74	Q6FH53;P05305	.;EDN1_HUMAN	G	74	ENSP00000368683:V74G	ENSP00000368683:V74G	V	+	2	0	EDN1	12400716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.733000	0.84916	2.209000	0.71365	0.533000	0.62120	GTC		0.542	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955	
TRDN	10345	broad.mit.edu	37	6	123591006	123591006	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:123591006G>A	ENST00000398178.3	-	31	1747	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	TRDN_ENST00000334268.4_Missense_Mutation_p.P576S	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	576					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.P576S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTTGGTTTGGGCTTGGCTGTG	0.323																																					p.P576S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1726T	6						.						142.0	142.0	142.0					6																	123591006		1877	4102	5979	123632705	SO:0001583	missense	10345	exon31			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1726C>T	6.37:g.123591006G>A	ENSP00000381240:p.Pro576Ser		123632705	NM_006073	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779489	0.49891	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.26223	1.75;2.17	4.56	0.613	0.17597	.	1.172930	0.06477	N	0.732149	T	0.04003	0.0112	N	0.19112	0.55	0.58432	D	0.999998	B	0.18863	0.031	B	0.12837	0.008	T	0.52525	-0.8564	10	0.12766	T	0.61	3.8815	1.0759	0.01632	0.2035:0.1811:0.4289:0.1865	.	576	Q13061	TRDN_HUMAN	S	576;578;576	ENSP00000381240:P576S;ENSP00000333984:P576S	ENSP00000333984:P576S	P	-	1	0	TRDN	123632705	0.869000	0.29996	0.961000	0.40146	0.767000	0.43475	1.059000	0.30517	0.212000	0.20703	-0.181000	0.13052	CCC		0.323	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
LAMA2	3908	broad.mit.edu	37	6	129649444	129649444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:129649444C>T	ENST00000421865.2	+	29	4247	c.4198C>T	c.(4198-4200)Cga>Tga	p.R1400*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1400	Laminin EGF-like 14; second part. {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.R1400*(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)		GGGATTTTATCGACTGCGTTC	0.512																																					p.R1400X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4198T	6						.						129.0	116.0	121.0					6																	129649444		2203	4300	6503	129691137	SO:0001587	stop_gained	3908	exon29			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.4198C>T	6.37:g.129649444C>T	ENSP00000400365:p.Arg1400*		129691137	NM_001079823	Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	44	10.714148	0.99455	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.15	4.19	0.49359	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5061	0.44834	0.4429:0.5571:0.0:0.0	.	.	.	.	X	1400	.	ENSP00000346769:R1400X	R	+	1	2	LAMA2	129691137	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.718000	0.47236	2.393000	0.81446	0.467000	0.42956	CGA		0.512	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129691105	129691105	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:129691105C>T	ENST00000421865.2	+	34	4978	c.4929C>T	c.(4927-4929)ctC>ctT	p.L1643L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1643	Domain II and I.				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.L1643L(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)		TGAATACACTCGTGACCGAAA	0.433																																					p.L1643L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4929T	6						.						79.0	81.0	80.0					6																	129691105		2203	4300	6503	129732798	SO:0001819	synonymous_variant	3908	exon34			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.4929C>T	6.37:g.129691105C>T			129732798	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
L3MBTL3	84456	broad.mit.edu	37	6	130372527	130372527	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:130372527G>A	ENST00000529410.1	+	8	902	c.423G>A	c.(421-423)caG>caA	p.Q141Q	L3MBTL3_ENST00000361794.2_Silent_p.Q141Q|L3MBTL3_ENST00000368136.2_Silent_p.Q141Q|L3MBTL3_ENST00000526019.1_Silent_p.Q116Q|L3MBTL3_ENST00000533560.1_Silent_p.Q116Q|L3MBTL3_ENST00000368139.2_Silent_p.Q116Q			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	141					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q141Q(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATTGCAGCCAGAATTGTGCTC	0.413																																					p.Q141Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G423A	6						.						170.0	160.0	163.0					6																	130372527		2203	4300	6503	130414220	SO:0001819	synonymous_variant	84456	exon6			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.423G>A	6.37:g.130372527G>A			130414220	NM_032438	Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	CCDS34537.1																																																																																				0.413	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074	
ENPP1	5167	broad.mit.edu	37	6	132168930	132168930	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:132168930T>C	ENST00000360971.2	+	2	275	c.255T>C	c.(253-255)tgT>tgC	p.C85C		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	85					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.C33C(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)	TGTCAGTATGTGTGTTAACAA	0.323																																					p.C85C	Colon(104;336 1535 5856 11019 33782)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T255C	6						.						111.0	105.0	107.0					6																	132168930		2203	4300	6503	132210623	SO:0001819	synonymous_variant	5167	exon2			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.255T>C	6.37:g.132168930T>C			132210623	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	CCDS5150.2																																																																																				0.323	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
ENPP1	5167	broad.mit.edu	37	6	132190558	132190558	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:132190558A>C	ENST00000360971.2	+	13	1354	c.1334A>C	c.(1333-1335)aAa>aCa	p.K445T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	445	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.K393T(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)	GGGGATGTTAAAAATATTAAA	0.328																																					p.K445T	Colon(104;336 1535 5856 11019 33782)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1334C	6						.						53.0	57.0	56.0					6																	132190558		2203	4299	6502	132232251	SO:0001583	missense	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.1334A>C	6.37:g.132190558A>C	ENSP00000354238:p.Lys445Thr		132232251	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009881	0.35415	.	.	ENSG00000197594	ENST00000360971	T	0.72505	-0.66	5.14	3.94	0.45596	Alkaline-phosphatase-like, core domain (1);	0.446098	0.28052	N	0.016792	T	0.38746	0.1052	N	0.25890	0.77	0.23204	N	0.998125	B;B	0.19583	0.037;0.036	B;B	0.19666	0.021;0.026	T	0.30534	-0.9975	10	0.42905	T	0.14	-13.7939	12.1847	0.54231	0.8569:0.1431:0.0:0.0	.	445;75	P22413;Q7Z3P5	ENPP1_HUMAN;.	T	445	ENSP00000354238:K445T	ENSP00000354238:K445T	K	+	2	0	ENPP1	132232251	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	4.851000	0.62896	0.866000	0.35629	0.533000	0.62120	AAA		0.328	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
STX7	8417	broad.mit.edu	37	6	132793477	132793477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:132793477C>A	ENST00000367941.2	-	4	306	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	STX7_ENST00000367937.4_Nonsense_Mutation_p.E65*|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	65					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.E65*(2)		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)		TTATCTGTTTCTTTGGCAAGC	0.393																																					p.E65X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G193T	6						.						175.0	151.0	159.0					6																	132793477		2203	4300	6503	132835170	SO:0001587	stop_gained	8417	exon4			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.193G>T	6.37:g.132793477C>A	ENSP00000356918:p.Glu65*		132835170	NM_003569	E1P579|Q5SZW2|Q96ES9	Nonsense_Mutation	SNP	ENST00000367941.2	37	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	C	37	6.634603	0.97722	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	.	.	.	6.17	6.17	0.99709	.	0.089154	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-16.2361	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000309600:E65X	E	-	1	0	STX7	132835170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.001000	0.76297	2.941000	0.99782	0.655000	0.94253	GAA		0.393	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2		
TAAR9	134860	broad.mit.edu	37	6	132859791	132859791	+	RNA	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:132859791T>C	ENST00000434551.1	+	0	363					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)		CTTCTTTATTTCATTTATGCT	0.398																																					p.F121F	Colon(10;433 445 15992 45047 47213)											.	.	0			c.T363C	6						.						172.0	163.0	166.0					6																	132859791		2043	4196	6239	132901484			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.132859791T>C			132901484	NM_175057		Silent	SNP	ENST00000434551.1	37																																																																																					0.398	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	132891886	132891886	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:132891886C>A	ENST00000275198.1	+	1	426	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	142					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.T142T(1)		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)		TCTATCCTACCAAGTTCACCG	0.498																																					p.T142T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C426A	6						.						281.0	270.0	274.0					6																	132891886		2203	4300	6503	132933579	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.426C>A	6.37:g.132891886C>A			132933579	NM_175067	Q5VUQ4	Silent	SNP	ENST00000275198.1	37	CCDS5155.1																																																																																				0.498	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067	
TAAR1	134864	broad.mit.edu	37	6	132966836	132966836	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:132966836C>T	ENST00000275216.1	-	1	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	103					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.D103N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	AGCATAATGTCGGTGCTTGTG	0.438																																					p.D103N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G307A	6						.						86.0	82.0	83.0					6																	132966836		2203	4299	6502	133008529	SO:0001583	missense	134864	exon1			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.307G>A	6.37:g.132966836C>T	ENSP00000275216:p.Asp103Asn		133008529	NM_138327	Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985590	0.93044	.	.	ENSG00000146399	ENST00000275216	T	0.19394	2.15	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.050966	0.85682	D	0.000000	T	0.49626	0.1568	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54853	-0.8231	10	0.72032	D	0.01	-15.6269	20.3396	0.98756	0.0:1.0:0.0:0.0	.	103	Q96RJ0	TAAR1_HUMAN	N	103	ENSP00000275216:D103N	ENSP00000275216:D103N	D	-	1	0	TAAR1	133008529	0.999000	0.42202	0.609000	0.28983	0.915000	0.54546	4.671000	0.61590	2.812000	0.96745	0.555000	0.69702	GAC		0.438	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327	
FOXF2	2295	broad.mit.edu	37	6	1394981	1394981	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:1394981G>T	ENST00000259806.1	+	2	1336	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	408					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D408Y(1)		large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TGACAGAAAAGATTTCGTCCT	0.453																																					p.D408Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1222T	6						.						214.0	186.0	195.0					6																	1394981		2203	4300	6503	1339980	SO:0001583	missense	2295	exon2			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1222G>T	6.37:g.1394981G>T	ENSP00000259806:p.Asp408Tyr		1339980	NM_001452	Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247040	0.80024	.	.	ENSG00000137273	ENST00000259806	D	0.94000	-3.33	5.76	5.76	0.90799	.	0.139083	0.46758	D	0.000265	D	0.95063	0.8401	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93956	0.7236	10	0.41790	T	0.15	.	18.9641	0.92689	0.0:0.0:1.0:0.0	.	408	Q12947	FOXF2_HUMAN	Y	408	ENSP00000259806:D408Y	ENSP00000259806:D408Y	D	+	1	0	FOXF2	1339980	1.000000	0.71417	0.934000	0.37439	0.794000	0.44872	9.238000	0.95380	2.713000	0.92767	0.655000	0.94253	GAT		0.453	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1		
EYA4	2070	broad.mit.edu	37	6	133836518	133836518	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:133836518C>A	ENST00000367895.5	+	17	2025	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	EYA4_ENST00000355286.6_Missense_Mutation_p.L498M|EYA4_ENST00000452339.2_Missense_Mutation_p.L467M|EYA4_ENST00000525849.1_Missense_Mutation_p.L498M|EYA4_ENST00000430974.2_Missense_Mutation_p.L473M|EYA4_ENST00000355167.3_Missense_Mutation_p.L521M|EYA4_ENST00000531901.1_Missense_Mutation_p.L527M|EYA4_ENST00000431403.2_Missense_Mutation_p.L521M|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	521					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.L521M(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)		GATTGAAGGTCTGACAGATTC	0.423																																					p.L498M	Melanoma(57;398 1237 3528 4702 7415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1492A	6						.						195.0	185.0	188.0					6																	133836518		2203	4300	6503	133878211	SO:0001583	missense	2070	exon16			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.1561C>A	6.37:g.133836518C>A	ENSP00000356870:p.Leu521Met		133878211	NM_172103	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091402	0.76756	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	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	5.73	4.86	0.63082	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.83335	0.5232	M	0.71581	2.175	0.58432	D	0.999999	P;P;D;D;P;P	0.59357	0.683;0.683;0.985;0.985;0.829;0.812	P;P;P;P;P;P	0.55667	0.632;0.722;0.781;0.781;0.722;0.722	D	0.85392	0.1126	10	0.59425	D	0.04	-9.174	11.144	0.48419	0.0:0.8591:0.0:0.1409	.	527;473;467;498;521;521	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	M	467;473;521;521;498;527;498;521	ENSP00000395916:L467M;ENSP00000388670:L473M;ENSP00000356870:L521M;ENSP00000347294:L521M;ENSP00000347434:L498M;ENSP00000432770:L527M;ENSP00000433219:L498M;ENSP00000404558:L521M	ENSP00000347294:L521M	L	+	1	2	EYA4	133878211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.036000	0.57304	1.558000	0.49541	0.655000	0.94253	CTG		0.423	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
SLC2A12	154091	broad.mit.edu	37	6	134312433	134312433	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:134312433T>G	ENST00000275230.5	-	5	1869	c.1714A>C	c.(1714-1716)Aac>Cac	p.N572H		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	572					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.N572H(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CAAATGTTGTTTTTCACATAG	0.363																																					p.N572H	Melanoma(122;1663 1672 14489 35294 41228)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1714C	6						.						93.0	98.0	96.0					6																	134312433		2203	4300	6503	134354126	SO:0001583	missense	154091	exon5			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1714A>C	6.37:g.134312433T>G	ENSP00000275230:p.Asn572His		134354126	NM_145176	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	T	9.169	1.020731	0.19433	.	.	ENSG00000146411	ENST00000275230	T	0.79454	-1.27	5.63	4.42	0.53409	.	0.726996	0.13874	N	0.356815	T	0.47358	0.1441	N	0.17082	0.46	0.31591	N	0.653868	B	0.14012	0.009	B	0.11329	0.006	T	0.45026	-0.9289	10	0.51188	T	0.08	-18.8356	10.2649	0.43449	0.0:0.0:0.1776:0.8224	.	572	Q8TD20	GTR12_HUMAN	H	572	ENSP00000275230:N572H	ENSP00000275230:N572H	N	-	1	0	SLC2A12	134354126	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.579000	0.46059	2.152000	0.67230	0.260000	0.18958	AAC		0.363	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1		
SGK1	6446	broad.mit.edu	37	6	134492161	134492161	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:134492161G>A	ENST00000237305.7	-	10	1126	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000528577.1_Splice_Site_p.F374F|SGK1_ENST00000367857.5_Splice_Site_p.F336F|SGK1_ENST00000413996.3_Splice_Site_p.F360F|SGK1_ENST00000475719.2_Splice_Site_p.F302F|SGK1_ENST00000367858.5_Splice_Site_p.F441F	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.F346F(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)		CATCACTCACGAAGTCATCCT	0.527																																					p.F441F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1323T	6						.						72.0	70.0	71.0					6																	134492161		2203	4300	6503	134533854	SO:0001630	splice_region_variant	6446	exon12			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	ENST00000237305.7:c.1038+1C>T	6.37:g.134492161G>A			134533854	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	CCDS5170.1																																																																																				0.527	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		Silent
MYB	4602	broad.mit.edu	37	6	135518401	135518401	+	Intron	SNP	C	C	T	rs150884969	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:135518401C>T	ENST00000367814.4	+	9	1389				MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Silent_p.D499D|MYB_ENST00000525369.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000534121.1_Silent_p.D486D|MYB_ENST00000533624.1_Intron|MYB_ENST00000341911.5_Silent_p.D502D|MYB_ENST00000316528.8_Intron|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000527615.1_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|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)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	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.D502D(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TATTTGCTGACGTCAGCAGTT	0.512			T	NFIB	adenoid cystic carcinoma								C|||	2	0.000399361	0.0008	0.0	5008	,	,		20044	0.001		0.0	False		,,,				2504	0.0				p.D499D			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1497T	6						.	C	,,,,,,,	1,3135		0,1,1567	77.0	72.0	74.0		,1506,1497,,1458,,,	4.0	1.0	6	dbSNP_134	74	0,7164		0,0,3582	no	intron,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,intron,intron	MYB	NM_001130172.1,NM_001130173.1,NM_001161656.1,NM_001161657.1,NM_001161658.1,NM_001161659.1,NM_001161660.1,NM_005375.2	,,,,,,,	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	,,,,,,,	,502/762,499/759,,486/746,,,	135518401	1,10299	1568	3582	5150	135560094	SO:0001627	intron_variant	4602	exon10				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1203+1261C>T	6.37:g.135518401C>T			135560094	NM_001161656	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Silent	SNP	ENST00000367814.4	37	CCDS5174.1																																																																																				0.512	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		
PDE7B	27115	broad.mit.edu	37	6	136429935	136429935	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:136429935A>G	ENST00000308191.6	+	3	452	c.149A>G	c.(148-150)gAc>gGc	p.D50G	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	50					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.D50G(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)	CCATTCATTGACTTCCGCCTA	0.423																																					p.D50G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A149G	6						.						112.0	111.0	112.0					6																	136429935		2203	4300	6503	136471628	SO:0001583	missense	27115	exon3			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.149A>G	6.37:g.136429935A>G	ENSP00000310661:p.Asp50Gly		136471628	NM_018945	Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.280671	0.59758	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.72505	-0.66	5.97	5.97	0.96955	.	0.295993	0.23183	U	0.050986	T	0.64204	0.2577	L	0.59436	1.845	0.54753	D	0.999984	P;P	0.43094	0.799;0.62	B;P	0.45794	0.162;0.493	T	0.68739	-0.5329	10	0.51188	T	0.08	.	13.9684	0.64223	1.0:0.0:0.0:0.0	.	102;50	A1E5M1;Q9NP56	.;PDE7B_HUMAN	G	50;186	ENSP00000310661:D50G	ENSP00000310661:D50G	D	+	2	0	PDE7B	136471628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.586000	0.67503	2.281000	0.76405	0.528000	0.53228	GAC		0.423	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1		
MAP7	9053	broad.mit.edu	37	6	136710619	136710619	+	Missense_Mutation	SNP	C	C	T	rs150235721	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:136710619C>T	ENST00000354570.3	-	4	691	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	MAP7_ENST00000438100.2_Missense_Mutation_p.R116Q|MAP7_ENST00000454590.1_Missense_Mutation_p.R116Q|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.R79Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	94					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R94Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGCCTGGCTCGCTCTTCTCT	0.493																																					p.R116Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347A	6						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,,,,GLN/ARG	0,4406		0,0,2203	107.0	108.0	108.0		347,347,347,347,236,281,,,,281	5.1	1.0	6	dbSNP_134	108	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,intron,utr-5,utr-5,missense	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	43,43,43,43,43,43,,,,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,,probably-damaging	116/772,116/780,116/735,116/772,79/735,94/713,,,,94/750	136710619	2,13004	2203	4300	6503	136752312	SO:0001583	missense	9053	exon5			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.281G>A	6.37:g.136710619C>T	ENSP00000346581:p.Arg94Gln		136752312	NM_001198614	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616032	0.87359	0.0	2.33E-4	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.08	5.08	0.68730	.	0.000000	0.45606	D	0.000351	T	0.23133	0.0559	M	0.74389	2.26	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	0.85130	0.994;0.994;0.997;0.994;0.992;0.997;0.994	T	0.01056	-1.1466	10	0.52906	T	0.07	-5.8227	18.8442	0.92198	0.0:1.0:0.0:0.0	.	116;116;79;116;116;94;94	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	Q	94;116;79;116	ENSP00000346581:R94Q;ENSP00000414712:R116Q;ENSP00000445737:R79Q;ENSP00000400790:R116Q	ENSP00000346581:R94Q	R	-	2	0	MAP7	136752312	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.663000	0.68038	2.539000	0.85634	0.557000	0.71058	CGA		0.493	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	
MAP3K5	4217	broad.mit.edu	37	6	137018398	137018398	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:137018398C>A	ENST00000359015.4	-	5	1294	c.934G>T	c.(934-936)Gat>Tat	p.D312Y		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	312					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)	p.D312Y(1)		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)		ATGACAATATCTGCTGTCAAG	0.393																																					p.D312Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G934T	6						.						104.0	106.0	105.0					6																	137018398		2203	4300	6503	137060091	SO:0001583	missense	4217	exon5			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.934G>T	6.37:g.137018398C>A	ENSP00000351908:p.Asp312Tyr		137060091	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.709915	0.89018	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.13538	2.58	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.999	T	0.28713	-1.0035	10	0.87932	D	0	.	19.6634	0.95882	0.0:1.0:0.0:0.0	.	392;157;312	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	Y	312;392	ENSP00000351908:D312Y	ENSP00000351908:D312Y	D	-	1	0	MAP3K5	137060091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.724000	0.93272	0.591000	0.81541	GAT		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
RANBP9	10048	broad.mit.edu	37	6	13622657	13622657	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:13622657T>C	ENST00000011619.3	-	14	2185	c.2127A>G	c.(2125-2127)ggA>ggG	p.G709G	NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR|AL441883.1_ENST00000600057.1_5'Flank|RANBP9_ENST00000539980.1_Silent_p.G480G	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	709	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)	p.G709G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAGCCATCAGTCCTAGACATT	0.443																																					p.G709G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2127G	6						.						126.0	105.0	112.0					6																	13622657		2203	4300	6503	13730636	SO:0001819	synonymous_variant	10048	exon14			AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.2127A>G	6.37:g.13622657T>C			13730636	NM_005493	A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	CCDS4529.1																																																																																				0.443	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1		
CD83	9308	broad.mit.edu	37	6	14131843	14131843	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:14131843C>T	ENST00000379153.3	+	3	417	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	82	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.F82F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				ATGGTTCTTTCGACGCCCCCA	0.547																																					p.F82F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C246T	6						.						127.0	117.0	120.0					6																	14131843		2203	4300	6503	14239822	SO:0001819	synonymous_variant	9308	exon3			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.246C>T	6.37:g.14131843C>T			14239822	NM_004233	Q5THX9	Silent	SNP	ENST00000379153.3	37	CCDS4532.1																																																																																				0.547	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1		
SLC35D3	340146	broad.mit.edu	37	6	137245417	137245417	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:137245417G>A	ENST00000331858.4	+	2	999	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	278					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.E278E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GCGACGTGGAGCCCACCTCTC	0.567																																					p.E278E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G834A	6						.						77.0	68.0	71.0					6																	137245417		2203	4300	6503	137287110	SO:0001819	synonymous_variant	340146	exon2				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.834G>A	6.37:g.137245417G>A			137287110	NM_001008783	B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	CCDS34544.1																																																																																				0.567	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017	
GPR126	57211	broad.mit.edu	37	6	142711440	142711440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:142711440G>A	ENST00000230173.6	+	7	1744	c.1268G>A	c.(1267-1269)cGt>cAt	p.R423H	GPR126_ENST00000367608.2_Missense_Mutation_p.R395H|GPR126_ENST00000296932.8_Missense_Mutation_p.R395H|GPR126_ENST00000367609.3_Missense_Mutation_p.R423H	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	423					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.R394H(1)|p.R423H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AACATCCTTCGTCACCCTGAG	0.333																																					p.R395H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1184A	6						.						94.0	94.0	94.0					6																	142711440		1846	4094	5940	142753133	SO:0001583	missense	57211	exon6			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1268G>A	6.37:g.142711440G>A	ENSP00000230173:p.Arg423His		142753133	NM_001032394	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877641	0.17395	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.46	-6.88	0.01665	.	1.474530	0.03771	N	0.259799	T	0.09818	0.0241	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.003;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.09907	-1.0653	10	0.32370	T	0.25	.	8.7411	0.34558	0.6223:0.2024:0.1754:0.0	.	395;423;395;423	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	H	423;395;395;423	ENSP00000230173:R423H;ENSP00000356580:R395H;ENSP00000296932:R395H;ENSP00000356581:R423H	ENSP00000230173:R423H	R	+	2	0	GPR126	142753133	0.001000	0.12720	0.652000	0.29579	0.995000	0.86356	-0.900000	0.04097	-1.298000	0.02348	0.655000	0.94253	CGT		0.333	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
HIVEP2	3097	broad.mit.edu	37	6	143082678	143082678	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:143082678G>T	ENST00000367604.1	-	7	6182	c.5543C>A	c.(5542-5544)tCt>tAt	p.S1848Y	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1848Y|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1848Y			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1848					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.S1848Y(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGTGCTTTAGATTTCATATG	0.358																																					p.S1848Y	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5543A	6						.						160.0	149.0	152.0					6																	143082678		1843	4088	5931	143124371	SO:0001583	missense	3097	exon8			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5543C>A	6.37:g.143082678G>T	ENSP00000356576:p.Ser1848Tyr		143124371	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243463	0.79912	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.07567	3.18;3.18;3.18	5.68	5.68	0.88126	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	0.23572	0.0570	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.00790	-1.1565	10	0.87932	D	0	-19.616	19.7939	0.96471	0.0:0.0:1.0:0.0	.	1848	P31629	ZEP2_HUMAN	Y	1848	ENSP00000356576:S1848Y;ENSP00000356575:S1848Y;ENSP00000012134:S1848Y	ENSP00000012134:S1848Y	S	-	2	0	HIVEP2	143124371	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.668000	0.90789	0.563000	0.77884	TCT		0.358	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
HIVEP2	3097	broad.mit.edu	37	6	143085981	143085981	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:143085981G>A	ENST00000367604.1	-	6	6112	c.5473C>T	c.(5473-5475)Cgg>Tgg	p.R1825W	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1825W|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R1825W			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1825					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.R1825W(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACATAAGGCCGAACATCAGTA	0.408																																					p.R1825W	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5473T	6						.						120.0	114.0	116.0					6																	143085981		2000	4190	6190	143127674	SO:0001583	missense	3097	exon7			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5473C>T	6.37:g.143085981G>A	ENSP00000356576:p.Arg1825Trp		143127674	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876471	0.72180	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.20332	2.08;2.08;2.08	5.82	4.95	0.65309	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61647	-0.7020	10	0.87932	D	0	-22.5465	13.1199	0.59321	0.0:0.0:0.7085:0.2915	.	1825	P31629	ZEP2_HUMAN	W	1825	ENSP00000356576:R1825W;ENSP00000356575:R1825W;ENSP00000012134:R1825W	ENSP00000012134:R1825W	R	-	1	2	HIVEP2	143127674	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.665000	0.54532	1.448000	0.47680	0.650000	0.86243	CGG		0.408	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
HIVEP2	3097	broad.mit.edu	37	6	143092433	143092433	+	Missense_Mutation	SNP	G	G	A	rs370164929		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:143092433G>A	ENST00000367604.1	-	4	4082	c.3443C>T	c.(3442-3444)tCg>tTg	p.S1148L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1148L|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1148L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1148					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.S1148L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAGTGGCCCCGAGCTCAGCGG	0.602																																					p.S1148L	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3443T	6						.	G	LEU/SER	1,4025		0,1,2012	51.0	57.0	55.0		3443	4.8	0.9	6		55	0,8372		0,0,4186	no	missense	HIVEP2	NM_006734.3	145	0,1,6198	AA,AG,GG		0.0,0.0248,0.0081	benign	1148/2447	143092433	1,12397	2013	4186	6199	143134126	SO:0001583	missense	3097	exon5			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3443C>T	6.37:g.143092433G>A	ENSP00000356576:p.Ser1148Leu		143134126	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	6.216	0.408067	0.11754	2.48E-4	0.0	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02656	4.21;4.21;4.21	5.67	4.75	0.60458	.	0.971136	0.08503	N	0.936067	T	0.01835	0.0058	L	0.58101	1.795	0.09310	N	1	B	0.24426	0.103	B	0.19666	0.026	T	0.31971	-0.9924	10	0.51188	T	0.08	-16.3938	10.5049	0.44828	0.0:0.1336:0.7107:0.1557	.	1148	P31629	ZEP2_HUMAN	L	1148	ENSP00000356576:S1148L;ENSP00000356575:S1148L;ENSP00000012134:S1148L	ENSP00000012134:S1148L	S	-	2	0	HIVEP2	143134126	0.071000	0.21146	0.896000	0.35187	0.152000	0.21847	2.718000	0.47236	2.687000	0.91594	0.563000	0.77884	TCG		0.602	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
HIVEP2	3097	broad.mit.edu	37	6	143093173	143093173	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:143093173C>T	ENST00000367604.1	-	4	3342	c.2703G>A	c.(2701-2703)gaG>gaA	p.E901E	HIVEP2_ENST00000012134.2_Silent_p.E901E|HIVEP2_ENST00000367603.2_Silent_p.E901E			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	901					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.E901E(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCTTCTCCTTCTCAGGTTTAT	0.552																																					p.E901E	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2703A	6						.						66.0	68.0	67.0					6																	143093173		1917	4136	6053	143134866	SO:0001819	synonymous_variant	3097	exon5			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2703G>A	6.37:g.143093173C>T			143134866	NM_006734	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.552	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
PEX3	8504	broad.mit.edu	37	6	143793349	143793349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:143793349G>T	ENST00000367591.4	+	8	694	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	211					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)	p.E211*(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AAAACTAAAAGAAATCAGAAA	0.338																																					p.E211X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G631T	6						.						83.0	90.0	88.0					6																	143793349		2203	4300	6503	143835042	SO:0001587	stop_gained	8504	exon8			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.631G>T	6.37:g.143793349G>T	ENSP00000356563:p.Glu211*		143835042	NM_003630	Q6FGP5	Nonsense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329678	0.95733	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	.	.	.	5.93	5.06	0.68205	.	0.286592	0.41294	D	0.000918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-10.9402	15.3404	0.74290	0.0673:0.0:0.9327:0.0	.	.	.	.	X	167;167;211	.	ENSP00000344195:E167X	E	+	1	0	PEX3	143835042	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.112000	0.50368	1.512000	0.48834	0.591000	0.81541	GAA		0.338	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1		
UTRN	7402	broad.mit.edu	37	6	144759934	144759934	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:144759934C>T	ENST00000367545.3	+	11	1295	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	432	Interaction with SYNM.				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.A432V(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)		CAGCTCTCCGCCTGGTTAACA	0.478																																					p.A432V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1295T	6						.						97.0	89.0	92.0					6																	144759934		2203	4300	6503	144801627	SO:0001583	missense	7402	exon11			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.1295C>T	6.37:g.144759934C>T	ENSP00000356515:p.Ala432Val		144801627	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682258	0.47991	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.52983	0.64	5.41	3.39	0.38822	.	0.571742	0.15397	N	0.264504	T	0.16085	0.0387	N	0.08118	0	0.80722	D	1	P	0.34615	0.459	B	0.39876	0.312	T	0.05937	-1.0855	10	0.62326	D	0.03	.	7.1525	0.25618	0.4128:0.4665:0.1207:0.0	.	432	P46939	UTRO_HUMAN	V	432	ENSP00000356515:A432V	ENSP00000356499:A432V	A	+	2	0	UTRN	144801627	1.000000	0.71417	0.820000	0.32676	0.344000	0.29017	4.834000	0.62774	1.224000	0.43551	0.650000	0.86243	GCC		0.478	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144768371	144768371	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:144768371G>A	ENST00000367545.3	+	14	1639	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	547	Interaction with SYNM.				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.E547K(2)|p.E547*(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)		TTGGTTAACCGAAAAAGAAGA	0.358																																					p.E547K												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)|endometrium(1)	c.G1639A	6						.						94.0	87.0	89.0					6																	144768371		2203	4300	6503	144810064	SO:0001583	missense	7402	exon14			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.1639G>A	6.37:g.144768371G>A	ENSP00000356515:p.Glu547Lys		144810064	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297174	0.81025	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.41065	1.01	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000051	T	0.48660	0.1512	M	0.77103	2.36	0.80722	D	1	D	0.64830	0.994	P	0.50934	0.654	T	0.45279	-0.9272	10	0.34782	T	0.22	.	19.855	0.96755	0.0:0.0:1.0:0.0	.	547	P46939	UTRO_HUMAN	K	547	ENSP00000356515:E547K	ENSP00000356499:E547K	E	+	1	0	UTRN	144810064	1.000000	0.71417	0.990000	0.47175	0.920000	0.55202	7.932000	0.87634	2.691000	0.91804	0.561000	0.74099	GAA		0.358	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144783942	144783942	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:144783942C>T	ENST00000367545.3	+	22	3006	c.3006C>T	c.(3004-3006)gtC>gtT	p.V1002V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1002					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.V1002V(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)		AGCTAAAGGTCTTGGTTTCCA	0.383																																					p.V1002V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3006T	6						.						108.0	123.0	118.0					6																	144783942		2203	4300	6503	144825635	SO:0001819	synonymous_variant	7402	exon22			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.3006C>T	6.37:g.144783942C>T			144825635	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																				0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	145156969	145156969	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:145156969C>T	ENST00000367545.3	+	69	9719	c.9719C>T	c.(9718-9720)tCc>tTc	p.S3240F	UTRN_ENST00000367526.4_Missense_Mutation_p.S795F	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3240					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.S3240F(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)		GGAGGAGAGTCCCCAGTGAGC	0.552																																					p.S3240F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9719T	6						.						121.0	126.0	124.0					6																	145156969		2203	4300	6503	145198662	SO:0001583	missense	7402	exon69			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.9719C>T	6.37:g.145156969C>T	ENSP00000356515:p.Ser3240Phe		145198662	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	35	5.444155	0.96187	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000455022	D;D;D	0.87103	-2.21;-2.21;-2.21	5.9	5.9	0.94986	.	0.000000	0.51477	D	0.000099	D	0.93674	0.7979	M	0.84433	2.695	0.58432	D	0.999997	D	0.64830	0.994	D	0.66602	0.945	D	0.93645	0.6968	10	0.87932	D	0	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	3240	P46939	UTRO_HUMAN	F	3240;795;152	ENSP00000356515:S3240F;ENSP00000356496:S795F;ENSP00000387927:S152F	ENSP00000356496:S795F	S	+	2	0	UTRN	145198662	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	7.736000	0.84948	2.808000	0.96608	0.650000	0.86243	TCC		0.552	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
SHPRH	257218	broad.mit.edu	37	6	146245970	146245970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:146245970G>A	ENST00000367505.2	-	17	3571	c.3307C>T	c.(3307-3309)Cga>Tga	p.R1103*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.R1103*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.R1112*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.R1112*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1103					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.R1112*(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)		TAGTGCTCTCGCAGCTGTTTG	0.398																																					p.R1112X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3334T	6						.						114.0	106.0	109.0					6																	146245970		1901	4121	6022	146287663	SO:0001587	stop_gained	257218	exon17			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.3307C>T	6.37:g.146245970G>A	ENSP00000356475:p.Arg1103*		146287663	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	45	11.276817	0.99540	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	.	.	.	5.83	2.7	0.31948	.	0.105878	0.42548	D	0.000697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1892	14.9746	0.71261	0.0:0.0:0.5225:0.4775	.	.	.	.	X	1103;1112;1112;1103	.	ENSP00000275233:R1103X	R	-	1	2	SHPRH	146287663	0.872000	0.30054	0.741000	0.31004	0.964000	0.63967	1.426000	0.34870	0.748000	0.32831	0.585000	0.79938	CGA		0.398	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SHPRH	257218	broad.mit.edu	37	6	146248372	146248372	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:146248372G>A	ENST00000367505.2	-	15	3418	c.3154C>T	c.(3154-3156)Cgc>Tgc	p.R1052C	SHPRH_ENST00000275233.7_Missense_Mutation_p.R1052C|SHPRH_ENST00000367503.3_Missense_Mutation_p.R1061C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R1061C			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1052					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.R1061C(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)		TCCGAGGAGCGCAACACTTCT	0.348																																					p.R1061C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3181T	6						.						131.0	114.0	120.0					6																	146248372		1857	4101	5958	146290065	SO:0001583	missense	257218	exon15			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.3154C>T	6.37:g.146248372G>A	ENSP00000356475:p.Arg1052Cys		146290065	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110530	0.77210	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.75938	-0.98;-0.97;-0.96;-0.98	5.55	4.67	0.58626	.	0.000000	0.64402	D	0.000001	D	0.82444	0.5038	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.85557	0.1225	10	0.72032	D	0.01	-17.2758	14.0748	0.64882	0.0:0.0:0.615:0.385	.	1052;1061	Q149N8;Q149N8-4	SHPRH_HUMAN;.	C	1052;1061;1061;1052	ENSP00000356475:R1052C;ENSP00000356473:R1061C;ENSP00000412797:R1061C;ENSP00000275233:R1052C	ENSP00000275233:R1052C	R	-	1	0	SHPRH	146290065	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	3.617000	0.54181	1.451000	0.47736	0.557000	0.71058	CGC		0.348	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
STXBP5	134957	broad.mit.edu	37	6	147635081	147635081	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:147635081G>A	ENST00000321680.6	+	12	1207	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	STXBP5_ENST00000179882.6_Missense_Mutation_p.E74K|STXBP5_ENST00000367481.3_Missense_Mutation_p.E403K|STXBP5_ENST00000367480.3_Missense_Mutation_p.E403K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	403					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.E403K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACATGTTGCGAATATTTTGC	0.348																																					p.E403K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1207A	6						.						95.0	95.0	95.0					6																	147635081		2203	4300	6503	147676774	SO:0001583	missense	134957	exon12			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1207G>A	6.37:g.147635081G>A	ENSP00000321826:p.Glu403Lys		147676774	NM_001127715	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747733	0.69533	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	L	0.38531	1.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.976;0.995	T	0.36065	-0.9763	10	0.08179	T	0.78	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	403;403;74	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	K	403;403;403;74	ENSP00000356451:E403K;ENSP00000321826:E403K;ENSP00000356450:E403K;ENSP00000179882:E74K	ENSP00000179882:E74K	E	+	1	0	STXBP5	147676774	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.951000	0.87819	2.780000	0.95670	0.655000	0.94253	GAA		0.348	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
LATS1	9113	broad.mit.edu	37	6	150005323	150005323	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:150005323G>T	ENST00000543571.1	-	4	1449	c.902C>A	c.(901-903)cCt>cAt	p.P301H	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.P301H|LATS1_ENST00000253339.5_Missense_Mutation_p.P301H	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.P301H(1)		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)		AGGTGGTGGAGGATAGCCCTC	0.493																																					p.P301H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902A	6						.						139.0	132.0	134.0					6																	150005323		2203	4300	6503	150047016	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.902C>A	6.37:g.150005323G>T	ENSP00000437550:p.Pro301His		150047016	NM_004690		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958842	0.53400	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.56275	0.47;0.47;3.07	5.28	5.28	0.74379	.	0.109437	0.41001	D	0.000968	T	0.54902	0.1887	L	0.47716	1.5	0.37276	D	0.907639	D;D;D	0.71674	0.997;0.998;0.997	P;P;P	0.58873	0.808;0.847;0.808	T	0.52697	-0.8541	9	.	.	.	.	18.8784	0.92347	0.0:0.0:1.0:0.0	.	153;301;301	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	H	301	ENSP00000437550:P301H;ENSP00000253339:P301H;ENSP00000444678:P301H	.	P	-	2	0	LATS1	150047016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.060000	0.57477	2.476000	0.83614	0.655000	0.94253	CCT		0.493	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
PLEKHG1	57480	broad.mit.edu	37	6	151130806	151130806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:151130806G>A	ENST00000358517.2	+	10	1425	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R405H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	405	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R405H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAAGACAAACGCCTCTGGGTT	0.498																																					p.R405H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214A	6						.						78.0	68.0	71.0					6																	151130806		2203	4300	6503	151172499	SO:0001583	missense	57480	exon11			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1214G>A	6.37:g.151130806G>A	ENSP00000351318:p.Arg405His		151172499	NM_001029884	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117556	0.94385	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.88124	-2.34;-2.34	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.051642	0.85682	D	0.000000	D	0.88621	0.6486	L	0.51914	1.62	0.80722	D	1	D;D;D	0.56746	0.973;0.977;0.977	P;P;P	0.55508	0.777;0.7;0.7	D	0.87440	0.2394	10	0.48119	T	0.1	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	212;405;405	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	H	405	ENSP00000356297:R405H;ENSP00000351318:R405H	ENSP00000351318:R405H	R	+	2	0	PLEKHG1	151172499	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.683000	0.84093	2.793000	0.96121	0.655000	0.94253	CGC		0.498	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		
PLEKHG1	57480	broad.mit.edu	37	6	151161872	151161872	+	Missense_Mutation	SNP	C	C	T	rs182466876	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:151161872C>T	ENST00000358517.2	+	16	4209	c.3998C>T	c.(3997-3999)cCg>cTg	p.P1333L	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.P1333L			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1333							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1333L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCAAAAAAGCCGGTTAACAGC	0.428													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.0				p.P1333L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3998T	6						.	C	LEU/PRO	8,4398	12.9+/-30.5	0,8,2195	90.0	91.0	91.0		3998	3.0	0.0	6		91	0,8600		0,0,4300	yes	missense	PLEKHG1	NM_001029884.1	98	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging	1333/1386	151161872	8,12998	2203	4300	6503	151203565	SO:0001583	missense	57480	exon17			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3998C>T	6.37:g.151161872C>T	ENSP00000351318:p.Pro1333Leu		151203565	NM_001029884	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.598	0.478708	0.12521	0.001816	0.0	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.60040	0.22;0.22	5.7	3.0	0.34707	.	0.522495	0.23479	N	0.047739	T	0.24547	0.0595	L	0.38531	1.155	0.09310	N	0.999995	D;B	0.53462	0.96;0.01	B;B	0.37198	0.243;0.003	T	0.03910	-1.0993	10	0.59425	D	0.04	.	10.8917	0.47000	0.1186:0.8066:0.0:0.0748	.	1140;1333	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	L	1333	ENSP00000356297:P1333L;ENSP00000351318:P1333L	ENSP00000351318:P1333L	P	+	2	0	PLEKHG1	151203565	0.046000	0.20272	0.018000	0.16275	0.000000	0.00434	1.994000	0.40757	0.358000	0.24211	-1.927000	0.00513	CCG		0.428	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		
MTHFD1L	25902	broad.mit.edu	37	6	151258063	151258063	+	Silent	SNP	G	G	A	rs371570169		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:151258063G>A	ENST00000367321.3	+	12	1654	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	RNU6-302P_ENST00000365249.1_RNA	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	460	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.T460T(2)		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)		AAGGACCGACGTTTGGAGTGA	0.478																																					p.T460T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1380A	6						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	105.0	94.0	98.0		1383,1185,1380	-4.3	0.6	6		98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MTHFD1L	NM_001242767.1,NM_001242768.1,NM_015440.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	461/980,395/914,460/979	151258063	1,13005	2203	4300	6503	151299756	SO:0001819	synonymous_variant	25902	exon12			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.1380G>A	6.37:g.151258063G>A			151299756	NM_015440	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	CCDS5228.1																																																																																				0.478	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
C6orf211	79624	broad.mit.edu	37	6	151779483	151779483	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:151779483G>T	ENST00000367294.3	+	3	427	c.168G>T	c.(166-168)aaG>aaT	p.K56N	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	56								p.K56N(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)		AAGCTGAAAAGAAAGCTATCT	0.353																																					p.K56N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G168T	6						.						107.0	109.0	108.0					6																	151779483		2203	4300	6503	151821176	SO:0001583	missense	79624	exon3			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.168G>T	6.37:g.151779483G>T	ENSP00000356263:p.Lys56Asn		151821176	NM_024573	Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903594	0.33628	.	.	ENSG00000146476	ENST00000367294	T	0.09255	3.0	5.85	3.15	0.36227	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	M	0.85859	2.78	0.80722	D	1	D	0.62365	0.991	D	0.64595	0.927	T	0.01549	-1.1327	10	0.48119	T	0.1	.	11.0101	0.47657	0.1994:0.0:0.8006:0.0	.	56	Q9H993	CF211_HUMAN	N	56	ENSP00000356263:K56N	ENSP00000356263:K56N	K	+	3	2	C6orf211	151821176	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.214000	0.51161	0.404000	0.25506	-0.244000	0.11960	AAG		0.353	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	
CCDC170	80129	broad.mit.edu	37	6	151907196	151907196	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:151907196G>A	ENST00000239374.7	+	7	1364	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	CCDC170_ENST00000367290.5_Missense_Mutation_p.R422Q	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	422								p.R422Q(1)									GGTGTTTTGCGAGACAACTTG	0.448																																					p.R422Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1265A	6						.						61.0	61.0	61.0					6																	151907196		1884	4131	6015	151948889	SO:0001583	missense	80129	exon7			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.1265G>A	6.37:g.151907196G>A	ENSP00000239374:p.Arg422Gln		151948889	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091232	0.36855	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09538	2.97;2.97	5.49	1.18	0.20946	.	0.505431	0.18405	N	0.142236	T	0.02193	0.0068	L	0.39245	1.2	0.31273	N	0.691559	P	0.39094	0.659	B	0.28784	0.094	T	0.48127	-0.9062	10	0.38643	T	0.18	-0.0199	6.8694	0.24113	0.2053:0.0:0.565:0.2297	.	422	Q8IYT3	CF097_HUMAN	Q	422	ENSP00000239374:R422Q;ENSP00000356259:R422Q	ENSP00000239374:R422Q	R	+	2	0	C6orf97	151948889	0.998000	0.40836	0.998000	0.56505	0.856000	0.48823	1.627000	0.37050	0.278000	0.22164	-1.057000	0.02308	CGA		0.448	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
CCDC170	80129	broad.mit.edu	37	6	151917659	151917659	+	Nonsense_Mutation	SNP	C	C	T	rs370430081		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:151917659C>T	ENST00000239374.7	+	9	1756	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	CCDC170_ENST00000367290.5_Nonsense_Mutation_p.R553*	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	553			R -> Q (in dbSNP:rs34430497).					p.R553*(1)									GAACACGTGTCGAGACTTGCA	0.522																																					p.R553X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1657T	6						.	C	stop/ARG	1,4263		0,1,2131	94.0	102.0	99.0		1657	4.7	0.0	6		99	1,8477		0,1,4238	no	stop-gained	C6orf97	NM_025059.3		0,2,6369	TT,TC,CC		0.0118,0.0235,0.0157		553/716	151917659	2,12740	2132	4239	6371	151959352	SO:0001587	stop_gained	80129	exon9			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.1657C>T	6.37:g.151917659C>T	ENSP00000239374:p.Arg553*		151959352	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Nonsense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726608	0.89298	2.35E-4	1.18E-4	ENSG00000120262	ENST00000239374;ENST00000367290	.	.	.	5.63	4.71	0.59529	.	0.564673	0.16689	N	0.203618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3859	13.8508	0.63496	0.2264:0.7735:0.0:0.0	.	.	.	.	X	553	.	ENSP00000239374:R553X	R	+	1	2	C6orf97	151959352	0.040000	0.19996	0.033000	0.17914	0.003000	0.03518	2.646000	0.46630	2.654000	0.90174	0.655000	0.94253	CGA		0.522	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
CCDC170	80129	broad.mit.edu	37	6	151936652	151936652	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:151936652G>T	ENST00000239374.7	+	10	1884	c.1785G>T	c.(1783-1785)gaG>gaT	p.E595D	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.E602D	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	595								p.E595D(1)									AGATGAAGGAGAAAGCTGAGA	0.393																																					p.E595D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1785T	6						.						145.0	141.0	142.0					6																	151936652		1855	4096	5951	151978345	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.1785G>T	6.37:g.151936652G>T	ENSP00000239374:p.Glu595Asp		151978345	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471508	0.43942	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.79247	2.84;-1.25	6.16	6.16	0.99307	.	0.057084	0.64402	D	0.000002	T	0.63757	0.2538	M	0.66939	2.045	0.31029	N	0.71767	B	0.33379	0.41	B	0.38020	0.263	T	0.59553	-0.7433	10	0.21014	T	0.42	-14.7559	9.6221	0.39727	0.0756:0.0:0.7802:0.1442	.	595	Q8IYT3	CF097_HUMAN	D	595;602	ENSP00000239374:E595D;ENSP00000356259:E602D	ENSP00000239374:E595D	E	+	3	2	C6orf97	151978345	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.094000	0.50227	2.937000	0.99478	0.650000	0.86243	GAG		0.393	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
SYNE1	23345	broad.mit.edu	37	6	152510481	152510481	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:152510481T>C	ENST00000367255.5	-	128	23808	c.23207A>G	c.(23206-23208)gAc>gGc	p.D7736G	SYNE1_ENST00000265368.4_Missense_Mutation_p.D7736G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D7348G|SYNE1_ENST00000448038.1_Missense_Mutation_p.D7665G|SYNE1_ENST00000423061.1_Missense_Mutation_p.D7665G|SYNE1_ENST00000356820.4_Missense_Mutation_p.D2260G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7736					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.D7736G(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)		AGAGAGGGTGTCCTTCAGCAG	0.448										HNSCC(10;0.0054)																											p.D2260G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6779G	6						.						154.0	151.0	152.0					6																	152510481		2203	4300	6503	152552174	SO:0001583	missense	23345	exon43			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.23207A>G	6.37:g.152510481T>C	ENSP00000356224:p.Asp7736Gly		152552174	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	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690934	0.48097	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.99	3.62	0.41486	.	0.490245	0.19123	N	0.122124	T	0.18173	0.0436	L	0.57536	1.79	0.31796	N	0.628962	B;B;B;B	0.15719	0.005;0.005;0.014;0.008	B;B;B;B	0.13407	0.004;0.004;0.009;0.004	T	0.08827	-1.0703	10	0.66056	D	0.02	.	10.6246	0.45500	0.0:0.1153:0.0:0.8847	.	7736;7736;7665;7665	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	G	7736;382;7665;7736;7665;7348;2260;658	ENSP00000356224:D7736G;ENSP00000356226:D382G;ENSP00000396024:D7665G;ENSP00000265368:D7736G;ENSP00000390975:D7665G;ENSP00000341887:D7348G;ENSP00000349276:D2260G;ENSP00000356220:D658G	ENSP00000265368:D7736G	D	-	2	0	SYNE1	152552174	1.000000	0.71417	0.709000	0.30452	0.956000	0.61745	4.220000	0.58567	0.524000	0.28502	0.533000	0.62120	GAC		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152532678	152532678	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:152532678T>G	ENST00000367255.5	-	124	23141	c.22540A>C	c.(22540-22542)Atc>Ctc	p.I7514L	SYNE1_ENST00000265368.4_Missense_Mutation_p.I7514L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7126L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7443L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7443L|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2038L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7514					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.I7514L(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)		TCAATAATGATTGAGTGCAAA	0.338										HNSCC(10;0.0054)																											p.I2038L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6112C	6						.						94.0	92.0	93.0					6																	152532678		2203	4300	6503	152574371	SO:0001583	missense	23345	exon39			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.22540A>C	6.37:g.152532678T>G	ENSP00000356224:p.Ile7514Leu		152574371	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	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801261	0.90538	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.42900	1.75;0.96;1.75;1.75;1.75;1.75;0.96;0.96	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000010	T	0.56746	0.2006	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.998;0.996	D;D;D;D	0.85130	0.994;0.994;0.997;0.994	T	0.59005	-0.7535	10	0.49607	T	0.09	.	16.1197	0.81342	0.0:0.0:0.0:1.0	.	7514;7514;7443;7443	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	L	7514;160;7443;7514;7443;7126;2038;436	ENSP00000356224:I7514L;ENSP00000356226:I160L;ENSP00000396024:I7443L;ENSP00000265368:I7514L;ENSP00000390975:I7443L;ENSP00000341887:I7126L;ENSP00000349276:I2038L;ENSP00000356220:I436L	ENSP00000265368:I7514L	I	-	1	0	SYNE1	152574371	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.941000	0.87700	2.257000	0.74773	0.455000	0.32223	ATC		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152765634	152765634	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:152765634G>T	ENST00000367255.5	-	30	4350	c.3749C>A	c.(3748-3750)tCt>tAt	p.S1250Y	SYNE1_ENST00000265368.4_Missense_Mutation_p.S1250Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1316Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1257Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1250Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1240Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1257Y|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1250Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1250					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.S1250Y(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)		TTTAGAGCCAGAAATTAATTC	0.353										HNSCC(10;0.0054)																											p.S1257Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3770A	6						.						93.0	93.0	93.0					6																	152765634		2203	4300	6503	152807327	SO:0001583	missense	23345	exon30			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.3749C>A	6.37:g.152765634G>T	ENSP00000356224:p.Ser1250Tyr		152807327	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	17.87	3.495745	0.64186	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88277	0.62;0.62;0.53;0.62;0.71;-2.22;-2.36;-2.36	5.96	5.05	0.67936	.	0.484802	0.19366	N	0.116012	D	0.88153	0.6360	L	0.57536	1.79	0.58432	D	0.999999	P;B;P;P;B;B	0.47409	0.836;0.155;0.654;0.895;0.155;0.24	B;B;B;P;B;B	0.50136	0.347;0.11;0.431;0.632;0.11;0.221	D	0.88569	0.3128	10	0.59425	D	0.04	.	14.6677	0.68921	0.0:0.1116:0.7741:0.1143	.	1233;1250;1240;1250;1250;1257	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	Y	1250;1257;1250;1257;1316;1250;1240;1250	ENSP00000356224:S1250Y;ENSP00000396024:S1257Y;ENSP00000265368:S1250Y;ENSP00000390975:S1257Y;ENSP00000341887:S1316Y;ENSP00000356222:S1250Y;ENSP00000356217:S1240Y;ENSP00000414510:S1250Y	ENSP00000265368:S1250Y	S	-	2	0	SYNE1	152807327	0.968000	0.33430	1.000000	0.80357	0.996000	0.88848	1.454000	0.35178	2.826000	0.97356	0.655000	0.94253	TCT		0.353	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152768669	152768669	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:152768669T>C	ENST00000367255.5	-	29	4194	c.3593A>G	c.(3592-3594)aAt>aGt	p.N1198S	SYNE1_ENST00000265368.4_Missense_Mutation_p.N1198S|SYNE1_ENST00000341594.5_Missense_Mutation_p.N1264S|SYNE1_ENST00000448038.1_Missense_Mutation_p.N1205S|SYNE1_ENST00000367253.4_Missense_Mutation_p.N1198S|SYNE1_ENST00000367248.3_Missense_Mutation_p.N1188S|SYNE1_ENST00000423061.1_Missense_Mutation_p.N1205S|SYNE1_ENST00000413186.2_Missense_Mutation_p.N1198S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1198					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.N1198S(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)		TTGGGCTTCATTCTCAGAAGA	0.458										HNSCC(10;0.0054)																											p.N1205S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3614G	6						.						90.0	88.0	88.0					6																	152768669		2203	4300	6503	152810362	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.3593A>G	6.37:g.152768669T>C	ENSP00000356224:p.Asn1198Ser		152810362	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	0.037	-1.303194	0.01353	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.9	3.32	0.38043	.	1.142460	0.06394	N	0.717547	T	0.06050	0.0157	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B	0.11235	0.001;0.0;0.0;0.004;0.0;0.001	B;B;B;B;B;B	0.09377	0.004;0.001;0.003;0.003;0.001;0.003	T	0.34403	-0.9830	10	0.08381	T	0.77	.	6.8493	0.24006	0.2208:0.0:0.125:0.6541	.	1181;1198;1188;1198;1198;1205	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	S	1198;1205;1198;1205;1264;1198;1188;1198	ENSP00000356224:N1198S;ENSP00000396024:N1205S;ENSP00000265368:N1198S;ENSP00000390975:N1205S;ENSP00000341887:N1264S;ENSP00000356222:N1198S;ENSP00000356217:N1188S;ENSP00000414510:N1198S	ENSP00000265368:N1198S	N	-	2	0	SYNE1	152810362	0.001000	0.12720	0.742000	0.31022	0.240000	0.25518	0.149000	0.16243	1.025000	0.39708	0.528000	0.53228	AAT		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	152774743	152774743	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:152774743C>T	ENST00000367255.5	-	25	3606	c.3005G>A	c.(3004-3006)cGa>cAa	p.R1002Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.R1002Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1068Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1009Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1002Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.R992Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1009Q|SYNE1_ENST00000495090.2_Missense_Mutation_p.R569Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1002Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1002					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.R1002Q(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)		GTGGAGCTTTCGAACAGCTTC	0.522										HNSCC(10;0.0054)																											p.R1009Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3026A	6						.						143.0	135.0	138.0					6																	152774743		2203	4300	6503	152816436	SO:0001583	missense	23345	exon25			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.3005G>A	6.37:g.152774743C>T	ENSP00000356224:p.Arg1002Gln		152816436	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	36	5.710044	0.96821	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000012	T	0.45438	0.1342	M	0.68952	2.095	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	0.996;0.964;0.984;0.989;0.999;0.976;0.989	T	0.08932	-1.0698	10	0.14656	T	0.56	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	985;1002;569;992;1002;1002;1009	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	Q	1002;1009;1002;1009;1068;1002;992;1002;569	ENSP00000356224:R1002Q;ENSP00000396024:R1009Q;ENSP00000265368:R1002Q;ENSP00000390975:R1009Q;ENSP00000341887:R1068Q;ENSP00000356222:R1002Q;ENSP00000356217:R992Q;ENSP00000414510:R1002Q;ENSP00000438508:R569Q	ENSP00000265368:R1002Q	R	-	2	0	SYNE1	152816436	0.797000	0.28877	0.047000	0.18901	0.927000	0.56198	7.388000	0.79795	2.840000	0.97914	0.655000	0.94253	CGA		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152861103	152861103	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:152861103G>A	ENST00000367255.5	-	4	722	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	SYNE1_ENST00000265368.4_Silent_p.L41L|SYNE1_ENST00000341594.5_Silent_p.L41L|SYNE1_ENST00000448038.1_Silent_p.L41L|SYNE1_ENST00000367253.4_Silent_p.L41L|SYNE1_ENST00000367248.3_Silent_p.L41L|SYNE1_ENST00000423061.1_Silent_p.L41L|SYNE1_ENST00000413186.2_Silent_p.L41L|SYNE1_ENST00000466159.2_Silent_p.L41L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	41	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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.L41L(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)		ACCTTGGCCAGATGAGAGTTG	0.353										HNSCC(10;0.0054)																											p.L41L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C121T	6						.						247.0	239.0	242.0					6																	152861103		2203	4300	6503	152902796	SO:0001819	synonymous_variant	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.121C>T	6.37:g.152861103G>A			152902796	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																																																																																				0.353	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
FBXO5	26271	broad.mit.edu	37	6	153292421	153292421	+	Silent	SNP	C	C	T	rs148568194		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:153292421C>T	ENST00000229758.3	-	5	1279	c.1221G>A	c.(1219-1221)acG>acA	p.T407T	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000367241.3_Silent_p.T361T	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	407					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.T407T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		AGAGACACTTCGTACAATAAT	0.418																																					p.T407T	NSCLC(121;372 1757 17721 17977 29669)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1221A	6						.						118.0	109.0	112.0					6																	153292421		2203	4300	6503	153334114	SO:0001819	synonymous_variant	26271	exon5			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1221G>A	6.37:g.153292421C>T			153334114	NM_012177	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Silent	SNP	ENST00000229758.3	37	CCDS5242.1																																																																																				0.418	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1		
MTRF1L	54516	broad.mit.edu	37	6	153311207	153311207	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:153311207C>A	ENST00000367233.5	-	7	965	c.966G>T	c.(964-966)gaG>gaT	p.E322D	MTRF1L_ENST00000367230.1_3'UTR|MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000464135.1_5'UTR|RP1-101K10.6_ENST00000442269.1_RNA	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	322						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)	p.E322D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TTCTTATTTTCTCTGATCTTC	0.343																																					p.E322D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G966T	6						.						60.0	61.0	61.0					6																	153311207		2202	4297	6499	153352900	SO:0001583	missense	54516	exon7			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.966G>T	6.37:g.153311207C>A	ENSP00000356202:p.Glu322Asp		153352900	NM_019041	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	ENST00000367233.5	37	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850392	0.71719	.	.	ENSG00000112031	ENST00000367233;ENST00000414771	T;T	0.12255	2.7;2.7	5.78	1.56	0.23342	Peptide chain release factor class I/class II (1);	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	L	0.56124	1.755	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.981;0.999	T	0.01149	-1.1436	10	0.45353	T	0.12	-24.0698	10.2519	0.43375	0.0:0.639:0.0:0.361	.	286;322	B4DMX1;Q9UGC7	.;RF1ML_HUMAN	D	322;173	ENSP00000356202:E322D;ENSP00000414383:E173D	ENSP00000356202:E322D	E	-	3	2	MTRF1L	153352900	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.751000	0.26348	0.385000	0.24970	-0.140000	0.14226	GAG		0.343	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041	
TIAM2	26230	broad.mit.edu	37	6	155451393	155451393	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:155451393G>T	ENST00000461783.3	+	6	2309	c.1036G>T	c.(1036-1038)Gca>Tca	p.A346S	TIAM2_ENST00000456144.1_Missense_Mutation_p.A346S|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.A346S|TIAM2_ENST00000318981.5_Missense_Mutation_p.A346S|TIAM2_ENST00000529824.2_Missense_Mutation_p.A346S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	346					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.A346S(1)		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)		CTCCAGAGTGGCACACGGGGA	0.557																																					p.A346S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036T	6						.						80.0	78.0	79.0					6																	155451393		2203	4300	6503	155493085	SO:0001583	missense	26230	exon3				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.1036G>T	6.37:g.155451393G>T	ENSP00000437188:p.Ala346Ser		155493085	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638229	0.29157	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05081	3.6;3.5;3.55;3.6;3.6;3.55	4.99	4.12	0.48240	.	0.332612	0.31031	N	0.008385	T	0.01905	0.0060	N	0.24115	0.695	0.80722	D	1	B	0.14805	0.011	B	0.13407	0.009	T	0.44832	-0.9302	10	0.24483	T	0.36	.	13.5282	0.61607	0.0:0.0:0.844:0.156	.	346	Q8IVF5	TIAM2_HUMAN	S	346;592;346;346;346;346;346	ENSP00000437188:A346S;ENSP00000434901:A346S;ENSP00000407746:A346S;ENSP00000327315:A346S;ENSP00000353528:A346S;ENSP00000433348:A346S	ENSP00000327315:A346S	A	+	1	0	TIAM2	155493085	1.000000	0.71417	0.767000	0.31495	0.135000	0.20990	7.142000	0.77339	1.241000	0.43820	-0.152000	0.13540	GCA		0.557	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
TIAM2	26230	broad.mit.edu	37	6	155469275	155469275	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:155469275T>G	ENST00000461783.3	+	9	3108	c.1835T>G	c.(1834-1836)gTc>gGc	p.V612G	TIAM2_ENST00000456144.1_Missense_Mutation_p.V612G|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.V612G|TIAM2_ENST00000456877.2_5'Flank|TIAM2_ENST00000318981.5_Missense_Mutation_p.V612G|TIAM2_ENST00000529824.2_Missense_Mutation_p.V612G|TIAM2_ENST00000528391.2_5'Flank			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	612	PH 1. {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.V612G(1)		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)		GAAAACTGGGTCACTGCTGTA	0.498																																					p.V612G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1835G	6						.						126.0	125.0	125.0					6																	155469275		2203	4300	6503	155510967	SO:0001583	missense	26230	exon6				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.1835T>G	6.37:g.155469275T>G	ENSP00000437188:p.Val612Gly		155510967	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349015	0.82132	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.067363	0.64402	D	0.000015	D	0.85243	0.5652	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.988;0.993	D	0.86263	0.1656	10	0.51188	T	0.08	.	15.3722	0.74573	0.0:0.0:0.0:1.0	.	612;612	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	G	612;858;612;612;612;612;612	ENSP00000437188:V612G;ENSP00000434901:V612G;ENSP00000407746:V612G;ENSP00000327315:V612G;ENSP00000353528:V612G;ENSP00000433348:V612G	ENSP00000327315:V612G	V	+	2	0	TIAM2	155510967	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.698000	0.84413	2.027000	0.59764	0.460000	0.39030	GTC		0.498	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
ARID1B	57492	broad.mit.edu	37	6	157522424	157522424	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:157522424C>T	ENST00000350026.5	+	17	4658	c.4657C>T	c.(4657-4659)Cgc>Tgc	p.R1553C	ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606C|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548C|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1566C	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1553	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1548C(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTGGAGAACCGCATGTCTCC	0.627																																					p.R1553C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4657T	6						.						111.0	111.0	111.0					6																	157522424		2203	4296	6499	157564116	SO:0001583	missense	57492	exon17			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4657C>T	6.37:g.157522424C>T	ENSP00000055163:p.Arg1553Cys		157564116	NM_017519	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740700	0.49045	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02525	4.58;4.59;4.57;4.57;4.26	4.94	4.94	0.65067	.	0.183542	0.46442	N	0.000292	T	0.07683	0.0193	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.959;0.982;0.982	T	0.19614	-1.0300	10	0.72032	D	0.01	.	18.5459	0.91045	0.0:1.0:0.0:0.0	.	1553;1566;1548	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	C	1566;1553;1606;1548;1075	ENSP00000344546:R1566C;ENSP00000055163:R1553C;ENSP00000356116:R1606C;ENSP00000275248:R1548C;ENSP00000412835:R1075C	ENSP00000275248:R1548C	R	+	1	0	ARID1B	157564116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.385000	0.59613	2.459000	0.83118	0.655000	0.94253	CGC		0.627	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
ARID1B	57492	broad.mit.edu	37	6	157528133	157528133	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:157528133G>A	ENST00000350026.5	+	19	5820	c.5819G>A	c.(5818-5820)cGt>cAt	p.R1940H	ARID1B_ENST00000367148.1_Missense_Mutation_p.R1993H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1935H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1953H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1940					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1935H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AATATTGTCCGTAGCTTGTCA	0.557																																					p.R1940H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5819A	6						.						130.0	127.0	128.0					6																	157528133		2203	4296	6499	157569825	SO:0001583	missense	57492	exon19			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5819G>A	6.37:g.157528133G>A	ENSP00000055163:p.Arg1940His		157569825	NM_017519	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550387	0.65311	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.74051	-0.3789	10	0.87932	D	0	.	18.182	0.89781	0.0:0.0:1.0:0.0	.	1940;1953;1935	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1953;1940;1993;1935;1462	ENSP00000344546:R1953H;ENSP00000055163:R1940H;ENSP00000356116:R1993H;ENSP00000275248:R1935H;ENSP00000412835:R1462H	ENSP00000275248:R1935H	R	+	2	0	ARID1B	157569825	1.000000	0.71417	0.920000	0.36463	0.849000	0.48306	9.813000	0.99286	2.347000	0.79759	0.563000	0.77884	CGT		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
ZDHHC14	79683	broad.mit.edu	37	6	157963759	157963759	+	Missense_Mutation	SNP	G	G	A	rs373622179		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:157963759G>A	ENST00000359775.5	+	2	1277	c.388G>A	c.(388-390)Gat>Aat	p.D130N	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.D130N			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	130					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.D130N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TGAAGCCGCCGATCTGGAAAG	0.622																																					p.D130N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	6						.	G	ASN/ASP,ASN/ASP	0,4402		0,0,2201	26.0	28.0	27.0		388,388	5.0	1.0	6		27	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ZDHHC14	NM_024630.2,NM_153746.1	23,23	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	130/489,130/474	157963759	1,12993	2201	4296	6497	157883747	SO:0001583	missense	79683	exon2			AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.388G>A	6.37:g.157963759G>A	ENSP00000352821:p.Asp130Asn		157883747	NM_153746	A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451312	0.84209	0.0	1.16E-4	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.50001	0.76;0.76	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	M	0.75615	2.305	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.939	D;D;P	0.70935	0.957;0.971;0.474	T	0.58758	-0.7580	10	0.26408	T	0.33	-24.7135	18.6435	0.91402	0.0:0.0:1.0:0.0	.	134;130;130	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	N	130;130;134	ENSP00000352821:D130N;ENSP00000410713:D130N	ENSP00000352821:D130N	D	+	1	0	ZDHHC14	157883747	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	9.235000	0.95353	1.975000	0.57531	0.533000	0.62120	GAT		0.622	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746	
SNX9	51429	broad.mit.edu	37	6	158327172	158327172	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:158327172T>C	ENST00000392185.3	+	7	804	c.633T>C	c.(631-633)ttT>ttC	p.F211F		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	211	Critical for tubulation activity.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.F211F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TTCCTGGATTTGCGAAACCTG	0.333																																					p.F211F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T633C	6						.						106.0	104.0	105.0					6																	158327172		2203	4300	6503	158247160	SO:0001819	synonymous_variant	51429	exon7			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.633T>C	6.37:g.158327172T>C			158247160	NM_016224	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	CCDS5253.1																																																																																				0.333	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		
SYNJ2	8871	broad.mit.edu	37	6	158513997	158513997	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:158513997A>G	ENST00000355585.4	+	26	3680	c.3605A>G	c.(3604-3606)gAc>gGc	p.D1202G	SYNJ2_ENST00000367121.3_Missense_Mutation_p.D1202G|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D1157G|SYNJ2_ENST00000367112.1_Missense_Mutation_p.D287G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1202					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.D1202G(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCCCCAAGGGACCTTGAAGCA	0.587																																					p.D1202G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3605G	6						.						83.0	83.0	83.0					6																	158513997		2203	4300	6503	158433985	SO:0001583	missense	8871	exon26			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3605A>G	6.37:g.158513997A>G	ENSP00000347792:p.Asp1202Gly		158433985	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	4.419	0.077504	0.08485	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94000	-3.1;-3.33;-3.08;0.93	5.25	4.09	0.47781	.	0.512212	0.19445	N	0.114084	T	0.78572	0.4304	N	0.24115	0.695	0.30027	N	0.813794	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.002	T	0.65059	-0.6260	10	0.22109	T	0.4	.	12.4851	0.55868	0.7396:0.2604:0.0:0.0	.	597;1202;1202	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	G	1157;1202;1202;287	ENSP00000356089:D1157G;ENSP00000356088:D1202G;ENSP00000347792:D1202G;ENSP00000356079:D287G	ENSP00000347792:D1202G	D	+	2	0	SYNJ2	158433985	0.974000	0.33945	0.025000	0.17156	0.002000	0.02628	1.992000	0.40737	1.170000	0.42753	0.650000	0.86243	GAC		0.587	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
TMEM181	57583	broad.mit.edu	37	6	159046769	159046769	+	Silent	SNP	C	C	T	rs377410212		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:159046769C>T	ENST00000367090.3	+	13	1514	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	501					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.F501F(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CATTGACTTTCGTAGTACTTG	0.328																																					p.F501F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1503T	6						.	C		0,3672		0,0,1836	99.0	90.0	93.0		1503	1.7	1.0	6		93	2,8172		0,2,4085	no	coding-synonymous	TMEM181	NM_020823.1		0,2,5921	TT,TC,CC		0.0245,0.0,0.0169		501/613	159046769	2,11844	1836	4087	5923	158966757	SO:0001819	synonymous_variant	57583	exon13			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1503C>T	6.37:g.159046769C>T			158966757	NM_020823	Q5VTU1	Silent	SNP	ENST00000367090.3	37	CCDS43520.1																																																																																				0.328	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823	
EZR	7430	broad.mit.edu	37	6	159206567	159206567	+	Missense_Mutation	SNP	G	G	A	rs369743003		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:159206567G>A	ENST00000367075.3	-	5	409	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	EZR_ENST00000337147.7_Missense_Mutation_p.R81W|EZR_ENST00000392177.4_Missense_Mutation_p.R49W|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	81	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)	p.R81W(1)	EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		AACTTGGCCCGGAACTTGAAC	0.532			T	ROS1	NSCLC																																p.R81W			Dom	yes		6	6q25.3	7430	ezrin		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C241T	6						.	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	72.0	67.0	69.0		241,241	1.6	1.0	6		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EZR	NM_001111077.1,NM_003379.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	81/587,81/587	159206567	1,13005	2203	4300	6503	159126555	SO:0001583	missense	7430	exon5			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.241C>T	6.37:g.159206567G>A	ENSP00000356042:p.Arg81Trp		159126555	NM_001111077	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125842	0.77436	0.0	1.16E-4	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;T	0.82167	-1.58;-1.58;-1.21	4.58	1.63	0.23807	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.055536	0.64402	D	0.000001	D	0.91898	0.7435	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.977;0.995	D	0.93137	0.6538	10	0.72032	D	0.01	.	13.4641	0.61243	0.0:0.0:0.5885:0.4115	.	49;81	E7EQR4;P15311	.;EZRI_HUMAN	W	81;81;49	ENSP00000338934:R81W;ENSP00000356042:R81W;ENSP00000376016:R49W	ENSP00000338934:R81W	R	-	1	2	EZR	159126555	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.398000	0.66308	0.107000	0.17824	0.650000	0.86243	CGG		0.532	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	
SOD2	6648	broad.mit.edu	37	6	160103613	160103613	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:160103613T>G	ENST00000546087.1	-	7	2270	c.443A>C	c.(442-444)aAa>aCa	p.K148T	SOD2_ENST00000337404.4_Missense_Mutation_p.K155T|SOD2_ENST00000444946.2_Missense_Mutation_p.K134T|SOD2_ENST00000367055.4_Missense_Mutation_p.K194T|SOD2_ENST00000367054.2_Missense_Mutation_p.K155T|SOD2_ENST00000538183.2_Missense_Mutation_p.K194T			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	194				Missing (in Ref. 6). {ECO:0000305}.	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.K194T(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)		CCTGACATTTTTATACTGAAG	0.403																																					p.K155T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A464C	6						.						104.0	97.0	99.0					6																	160103613		2203	4300	6503	160023603	SO:0001583	missense	6648	exon4			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.443A>C	6.37:g.160103613T>G	ENSP00000442920:p.Lys148Thr		160023603	NM_001024466	B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Missense_Mutation	SNP	ENST00000546087.1	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.212865	0.79352	.	.	ENSG00000112096	ENST00000367055;ENST00000538183;ENST00000367054;ENST00000546087;ENST00000444946;ENST00000337404	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.98	4.82	0.62117	Manganese/iron superoxide dismutase, C-terminal (2);	0.043658	0.85682	D	0.000000	T	0.74191	0.3684	H	0.98446	4.235	0.80722	D	1	P;P;D;P	0.64830	0.864;0.916;0.994;0.815	P;D;D;P	0.71414	0.658;0.973;0.969;0.865	D	0.83593	0.0124	10	0.87932	D	0	-7.5382	11.95	0.52950	0.0:0.0675:0.0:0.9325	.	134;190;155;194	B4E3K9;Q7Z7M4;B4DL20;P04179	.;.;.;SODM_HUMAN	T	194;194;155;148;134;155	ENSP00000356022:K194T;ENSP00000446252:K194T;ENSP00000356021:K155T;ENSP00000442920:K148T;ENSP00000404804:K134T;ENSP00000337127:K155T	ENSP00000337127:K155T	K	-	2	0	SOD2	160023603	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.946000	0.87746	1.096000	0.41439	0.529000	0.55759	AAA		0.403	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1	NM_000636	
WTAP	9589	broad.mit.edu	37	6	160160025	160160025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:160160025C>T	ENST00000358372.4	+	3	1791	c.34C>T	c.(34-36)Cga>Tga	p.R12*	WTAP_ENST00000337387.4_Nonsense_Mutation_p.R12*|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	12					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.R12*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTTATAGGTTCGATTGAGTGA	0.308																																					p.R12X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C34T	6						.						76.0	78.0	78.0					6																	160160025		2201	4294	6495	160080015	SO:0001587	stop_gained	9589	exon3			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.34C>T	6.37:g.160160025C>T	ENSP00000351141:p.Arg12*		160080015	NM_004906	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Nonsense_Mutation	SNP	ENST00000358372.4	37	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	C	51	17.860599	0.99894	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5038	17.4453	0.87577	0.0:1.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000336911:R12X	R	+	1	2	WTAP	160080015	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.194000	0.65125	2.612000	0.88384	0.591000	0.81541	CGA		0.308	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	
TCP1	6950	broad.mit.edu	37	6	160200944	160200944	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:160200944T>G	ENST00000321394.7	-	10	1553	c.1273A>C	c.(1273-1275)Aac>Cac	p.N425H	SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000392168.2_Missense_Mutation_p.N270H|TCP1_ENST00000420894.2_Missense_Mutation_p.N425H|TCP1_ENST00000544255.1_Missense_Mutation_p.N201H	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	425					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.N425H(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GTTGCATAGTTTTCAAGGTAT	0.428																																					p.N425H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1273C	6						.						77.0	78.0	78.0					6																	160200944		2203	4300	6503	160120934	SO:0001583	missense	6950	exon10			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1273A>C	6.37:g.160200944T>G	ENSP00000317334:p.Asn425His		160120934	NM_030752	E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955792	0.53293	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.98	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	M	0.86420	2.815	0.80722	D	1	B;B	0.25105	0.018;0.118	B;B	0.32090	0.086;0.14	T	0.75294	-0.3368	10	0.54805	T	0.06	-30.8724	13.5319	0.61627	0.0:0.0:0.13:0.87	.	425;425	E7ERF2;P17987	.;TCPA_HUMAN	H	425;201;425;270	ENSP00000317334:N425H;ENSP00000439447:N201H;ENSP00000390159:N425H;ENSP00000376008:N270H	ENSP00000317334:N425H	N	-	1	0	TCP1	160120934	1.000000	0.71417	0.825000	0.32803	0.993000	0.82548	7.493000	0.81493	1.073000	0.40885	0.533000	0.62120	AAC		0.428	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	
PNLDC1	154197	broad.mit.edu	37	6	160241512	160241512	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:160241512C>T	ENST00000610273.1	+	19	1697	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A520V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	509						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.A509V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACTGCCTGGGCCCTTCTCGCG	0.642																																					p.A509V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1526T	6						.						141.0	112.0	122.0					6																	160241512		2203	4300	6503	160161502	SO:0001583	missense	154197	exon19			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1526C>T	6.37:g.160241512C>T	ENSP00000476448:p.Ala509Val		160161502	NM_173516	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471544	0.63737	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.26	5.26	0.73747	.	0.419731	0.22606	N	0.057897	T	0.24661	0.0598	N	0.24115	0.695	0.29108	N	0.881043	P;P	0.39665	0.59;0.682	B;B	0.43728	0.429;0.156	T	0.19063	-1.0317	9	0.66056	D	0.02	.	16.6337	0.85040	0.0:1.0:0.0:0.0	.	520;509	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	V	509;520	.	ENSP00000275275:A509V	A	+	2	0	PNLDC1	160161502	0.997000	0.39634	0.370000	0.25965	0.550000	0.35303	4.343000	0.59348	2.467000	0.83353	0.511000	0.50034	GCC		0.642	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
IGF2R	3482	broad.mit.edu	37	6	160509121	160509121	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:160509121G>A	ENST00000356956.1	+	42	6410	c.6262G>A	c.(6262-6264)Gca>Aca	p.A2088T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2088					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.A2088T(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)	AAATAAGACCGCATCCTCCGT	0.478											OREG0017769	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A2088T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6262A	6						.						128.0	113.0	118.0					6																	160509121		2203	4300	6503	160429111	SO:0001583	missense	3482	exon42			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.6262G>A	6.37:g.160509121G>A	ENSP00000349437:p.Ala2088Thr	1809	160429111	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022273	0.35701	.	.	ENSG00000197081	ENST00000356956	T	0.29397	1.57	5.0	3.22	0.36961	Mannose-6-phosphate receptor, binding (1);	0.182681	0.47852	N	0.000208	T	0.12646	0.0307	M	0.79805	2.47	0.09310	N	1	B	0.19935	0.04	B	0.21708	0.036	T	0.34428	-0.9829	10	0.16420	T	0.52	-12.0389	5.0076	0.14295	0.2386:0.0:0.614:0.1474	.	2088	P11717	MPRI_HUMAN	T	2088	ENSP00000349437:A2088T	ENSP00000349437:A2088T	A	+	1	0	IGF2R	160429111	0.024000	0.19004	0.009000	0.14445	0.835000	0.47333	1.236000	0.32683	0.521000	0.28445	0.655000	0.94253	GCA		0.478	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
IGF2R	3482	broad.mit.edu	37	6	160511040	160511040	+	Missense_Mutation	SNP	C	C	T	rs201372819		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:160511040C>T	ENST00000356956.1	+	44	6708	c.6560C>T	c.(6559-6561)gCg>gTg	p.A2187V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2187					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.A2187V(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)	AGAAACCCGGCGTGCTCTGGA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19556	0.0		0.001	False		,,,				2504	0.0				p.A2187V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6560T	6						.						117.0	103.0	108.0					6																	160511040		2203	4300	6503	160431030	SO:0001583	missense	3482	exon44			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.6560C>T	6.37:g.160511040C>T	ENSP00000349437:p.Ala2187Val		160431030	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.28	1.891131	0.33348	.	.	ENSG00000197081	ENST00000356956	T	0.03920	3.76	5.52	1.54	0.23209	Mannose-6-phosphate receptor, binding (1);	0.587306	0.18924	N	0.127402	T	0.01454	0.0047	M	0.73962	2.25	0.09310	N	0.999997	P	0.39520	0.676	B	0.29440	0.102	T	0.46176	-0.9210	10	0.32370	T	0.25	-22.7631	2.251	0.04043	0.3565:0.3789:0.1112:0.1535	.	2187	P11717	MPRI_HUMAN	V	2187	ENSP00000349437:A2187V	ENSP00000349437:A2187V	A	+	2	0	IGF2R	160431030	0.008000	0.16893	0.000000	0.03702	0.497000	0.33675	0.687000	0.25407	0.325000	0.23359	0.555000	0.69702	GCG		0.512	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
LPA	4018	broad.mit.edu	37	6	160966478	160966478	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:160966478G>T	ENST00000316300.5	-	33	5436	c.5392C>A	c.(5392-5394)Ctc>Atc	p.L1798I	LPA_ENST00000447678.1_Missense_Mutation_p.L1798I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4306	Kringle 16. {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.L1798I(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)	TTACCACAGAGAGGGATATCA	0.388																																					p.L1798I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5392A	6						.						91.0	100.0	97.0					6																	160966478		2202	4299	6501	160886468	SO:0001583	missense	4018	exon34			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.5392C>A	6.37:g.160966478G>T	ENSP00000321334:p.Leu1798Ile		160886468	NM_005577	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	5.812	0.334077	0.11013	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.66460	-0.21;-0.21	2.7	2.7	0.31948	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.46151	0.1378	N	0.20304	0.555	0.20563	N	0.999885	D	0.53462	0.96	P	0.56042	0.79	T	0.24261	-1.0165	9	0.45353	T	0.12	.	6.9907	0.24753	0.0:0.0:0.7282:0.2718	.	4306	P08519	APOA_HUMAN	I	1798	ENSP00000321334:L1798I;ENSP00000395608:L1798I	ENSP00000321334:L1798I	L	-	1	0	LPA	160886468	0.003000	0.15002	0.982000	0.44146	0.027000	0.11550	0.313000	0.19415	1.530000	0.49136	0.184000	0.17185	CTC		0.388	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
PLG	5340	broad.mit.edu	37	6	161143500	161143500	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:161143500G>A	ENST00000308192.9	+	10	1220	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	386	Kringle 4. {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.R386Q(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)	CAGAGCTACCGAGGCACATCC	0.488																																					p.R386Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	6						.						131.0	118.0	123.0					6																	161143500		2203	4300	6503	161063490	SO:0001583	missense	5340	exon10			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.1157G>A	6.37:g.161143500G>A	ENSP00000308938:p.Arg386Gln		161063490	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486016	0.84854	.	.	ENSG00000122194	ENST00000308192	T	0.69306	-0.39	5.18	5.18	0.71444	Kringle (5);Kringle-like fold (1);	0.000000	0.35805	U	0.002966	T	0.81465	0.4828	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84542	0.0639	10	0.72032	D	0.01	.	17.4468	0.87580	0.0:0.0:1.0:0.0	.	386	P00747	PLMN_HUMAN	Q	386	ENSP00000308938:R386Q	ENSP00000308938:R386Q	R	+	2	0	PLG	161063490	1.000000	0.71417	0.974000	0.42286	0.532000	0.34746	7.875000	0.87205	2.413000	0.81919	0.467000	0.42956	CGA		0.488	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
PLG	5340	broad.mit.edu	37	6	161160210	161160210	+	Missense_Mutation	SNP	G	G	A	rs576737789		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:161160210G>A	ENST00000308192.9	+	16	2051	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	663	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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.R663Q(2)		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)	GAGCCCACACGAAAAGATATT	0.478																																					p.R663Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1988A	6						.						143.0	130.0	135.0					6																	161160210		2203	4300	6503	161080200	SO:0001583	missense	5340	exon16			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.1988G>A	6.37:g.161160210G>A	ENSP00000308938:p.Arg663Gln		161080200	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	5.876	0.345759	0.11126	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.81499	-1.5	5.23	1.21	0.21127	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.576770	0.04652	N	0.407271	T	0.36026	0.0952	N	0.04705	-0.18	0.09310	N	1	B	0.28900	0.227	B	0.19391	0.025	T	0.22977	-1.0201	10	0.20519	T	0.43	.	6.4272	0.21776	0.1589:0.2794:0.5617:0.0	.	663	P00747	PLMN_HUMAN	Q	663;63	ENSP00000308938:R663Q	ENSP00000308938:R663Q	R	+	2	0	PLG	161080200	0.074000	0.21230	0.000000	0.03702	0.001000	0.01503	2.401000	0.44513	0.201000	0.20466	-0.156000	0.13503	CGA		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
MYLIP	29116	broad.mit.edu	37	6	16145302	16145302	+	Silent	SNP	C	C	T	rs72833427		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:16145302C>T	ENST00000356840.3	+	6	1200	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	MYLIP_ENST00000349606.4_Silent_p.G153G	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	334					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G334G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACAATGCTGGCGTTGTGGACC	0.473																																					p.G334G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1002T	6						.						115.0	119.0	117.0					6																	16145302		2203	4300	6503	16253281	SO:0001819	synonymous_variant	29116	exon6			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1002C>T	6.37:g.16145302C>T			16253281	NM_013262	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	CCDS4536.1																																																																																				0.473	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	
GMPR	2766	broad.mit.edu	37	6	16247138	16247138	+	Silent	SNP	C	C	T	rs200506239		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:16247138C>T	ENST00000259727.4	+	2	267	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	51					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.I51I(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)				TTCCCATCATCGTGGCCAACA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20256	0.0		0.0	False		,,,				2504	0.0				p.I51I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153T	6						.						134.0	123.0	127.0					6																	16247138		2203	4300	6503	16355117	SO:0001819	synonymous_variant	2766	exon2				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.153C>T	6.37:g.16247138C>T			16355117	NM_006877	Q96HQ6	Silent	SNP	ENST00000259727.4	37	CCDS4537.1																																																																																				0.483	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2		
ATXN1	6310	broad.mit.edu	37	6	16328379	16328379	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:16328379G>A	ENST00000244769.4	-	8	1099	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	ATXN1_ENST00000436367.1_Missense_Mutation_p.H55Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	55					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H55Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCGCCCCCGTGGCCCCGGCCA	0.662																																					p.H55Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C163T	6						.						59.0	69.0	66.0					6																	16328379		2201	4297	6498	16436358	SO:0001583	missense	6310	exon8			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.163C>T	6.37:g.16328379G>A	ENSP00000244769:p.His55Tyr		16436358	NM_000332	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	7.786	0.710520	0.15239	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.48522	0.81;0.81	5.01	3.02	0.34903	.	0.644424	0.16658	N	0.204918	T	0.15435	0.0372	L	0.40543	1.245	0.09310	N	1	B	0.25272	0.122	B	0.22601	0.04	T	0.08126	-1.0737	10	0.30078	T	0.28	-4.434	4.8293	0.13432	0.0858:0.1135:0.594:0.2067	.	55	P54253	ATX1_HUMAN	Y	55	ENSP00000244769:H55Y;ENSP00000416360:H55Y	ENSP00000244769:H55Y	H	-	1	0	ATXN1	16436358	0.026000	0.19158	0.141000	0.22245	0.394000	0.30568	0.226000	0.17776	1.293000	0.44690	0.462000	0.41574	CAC		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
MAP3K4	4216	broad.mit.edu	37	6	161470088	161470088	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:161470088G>A	ENST00000392142.4	+	3	932	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	MAP3K4_ENST00000366919.2_Missense_Mutation_p.E262K|MAP3K4_ENST00000348824.7_Missense_Mutation_p.E262K|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E262K	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	262					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E262K(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGATCTAACGAACTGATCTG	0.428																																					p.E262K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G784A	6						.						55.0	57.0	56.0					6																	161470088		2203	4300	6503	161390078	SO:0001583	missense	4216	exon3			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.784G>A	6.37:g.161470088G>A	ENSP00000375986:p.Glu262Lys		161390078	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519709	0.96416	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.53107	-0.8485	10	0.72032	D	0.01	-36.9422	20.819	0.99723	0.0:0.0:1.0:0.0	.	262;262	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	K	262	ENSP00000355886:E262K;ENSP00000375986:E262K;ENSP00000355887:E262K;ENSP00000297332:E262K	ENSP00000297332:E262K	E	+	1	0	MAP3K4	161390078	1.000000	0.71417	0.772000	0.31596	0.995000	0.86356	9.432000	0.97498	2.927000	0.99377	0.637000	0.83480	GAA		0.428	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
RPS6KA2	6196	broad.mit.edu	37	6	166862232	166862232	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:166862232C>T	ENST00000265678.4	-	14	1535	c.1312G>A	c.(1312-1314)Gac>Aac	p.D438N	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.D349N|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.D349N|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.D463N|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.D446N	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	438	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.D438N(1)|p.D446N(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)		TACTCGGTGTCTGTGGCTTTA	0.587																																					p.D438N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1312A	6						.						237.0	158.0	185.0					6																	166862232		2203	4300	6503	166782222	SO:0001583	missense	6196	exon14			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.1312G>A	6.37:g.166862232C>T	ENSP00000265678:p.Asp438Asn		166782222	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.069091	0.00382	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.39	3.53	0.40419	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.456431	0.24783	N	0.035635	T	0.02929	0.0087	N	0.01015	-1.05	0.39753	D	0.971918	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43782	-0.9370	10	0.05351	T	0.99	.	7.8668	0.29541	0.0:0.8143:0.0:0.1857	.	463;446;438	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	N	438;463;446;349;349	ENSP00000265678:D438N;ENSP00000422435:D463N;ENSP00000427015:D446N;ENSP00000422484:D349N;ENSP00000386050:D349N	ENSP00000265678:D438N	D	-	1	0	RPS6KA2	166782222	0.016000	0.18221	0.000000	0.03702	0.010000	0.07245	1.074000	0.30703	1.076000	0.40961	0.563000	0.77884	GAC		0.587	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
FGFR1OP	11116	broad.mit.edu	37	6	167417770	167417770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:167417770C>T	ENST00000366847.4	+	5	550	c.319C>T	c.(319-321)Cga>Tga	p.R107*	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000476078.1_3'UTR|FGFR1OP_ENST00000349556.4_Nonsense_Mutation_p.R107*	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	107					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.R107*(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)		TCTCGAAGGTCGAGAGAATTT	0.373			T	FGFR1	"""MPD, NHL"""																																p.R107X			Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C319T	6						.						74.0	72.0	73.0					6																	167417770		2203	4300	6503	167337760	SO:0001587	stop_gained	11116	exon5			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.319C>T	6.37:g.167417770C>T	ENSP00000355812:p.Arg107*		167337760	NM_194429	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Nonsense_Mutation	SNP	ENST00000366847.4	37	CCDS5296.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298590	0.81025	.	.	ENSG00000213066	ENST00000366847;ENST00000420493;ENST00000349556	.	.	.	5.34	5.34	0.76211	.	0.070270	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.766	16.5734	0.84631	0.0:1.0:0.0:0.0	.	.	.	.	X	107	.	ENSP00000230248:R107X	R	+	1	2	FGFR1OP	167337760	1.000000	0.71417	0.999000	0.59377	0.747000	0.42532	3.337000	0.52120	2.656000	0.90262	0.643000	0.83706	CGA		0.373	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	
TTLL2	83887	broad.mit.edu	37	6	167754877	167754877	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:167754877T>G	ENST00000239587.5	+	3	1577	c.1489T>G	c.(1489-1491)Ttt>Gtt	p.F497V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	497					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.F497V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGGCAGGATTTTCATCTGTC	0.547																																					p.F497V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1489G	6						.						117.0	101.0	106.0					6																	167754877		2203	4300	6503	167674867	SO:0001583	missense	83887	exon3			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1489T>G	6.37:g.167754877T>G	ENSP00000239587:p.Phe497Val		167674867	NM_031949	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	T	4.105	0.017645	0.07959	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02177	4.41	3.7	-7.02	0.01589	.	4.940100	0.00575	N	0.000301	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47086	-0.9144	10	0.29301	T	0.29	.	3.8807	0.09077	0.1221:0.4815:0.1293:0.2672	.	497	Q9BWV7	TTLL2_HUMAN	V	497;424	ENSP00000239587:F497V	ENSP00000239587:F497V	F	+	1	0	TTLL2	167674867	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.995000	0.03712	-1.539000	0.01732	-0.415000	0.06103	TTT		0.547	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949	
KIF25	3834	broad.mit.edu	37	6	168439394	168439394	+	Missense_Mutation	SNP	C	C	T	rs149377522	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:168439394C>T	ENST00000443060.2	+	6	870	c.479C>T	c.(478-480)gCg>gTg	p.A160V	KIF25_ENST00000351261.3_Missense_Mutation_p.A160V|KIF25_ENST00000354419.2_Missense_Mutation_p.A160V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	160	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A160V(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ACAGAGGTTGCGCTGCTGGCC	0.587													C|||	6	0.00119808	0.0	0.0	5008	,	,		17868	0.006		0.0	False		,,,				2504	0.0				p.A160V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C479T	6						.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	102.0	91.0	94.0		479,479	-1.9	0.0	6	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	KIF25	NM_005355.3,NM_030615.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	160/333,160/385	168439394	1,13005	2203	4300	6503	168182243	SO:0001583	missense	3834	exon5			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.479C>T	6.37:g.168439394C>T	ENSP00000388878:p.Ala160Val		168182243	NM_030615	O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	7.193	0.591874	0.13812	0.0	1.16E-4	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.75154	-0.91;-0.91;-0.91	4.58	-1.89	0.07689	Kinesin, motor domain (4);	0.782704	0.11441	N	0.563837	T	0.25754	0.0627	N	0.10916	0.065	0.09310	N	1	B;B	0.16603	0.003;0.018	B;B	0.13407	0.003;0.009	T	0.17077	-1.0381	10	0.30078	T	0.28	-0.1149	4.9463	0.13991	0.0:0.4149:0.2646:0.3205	.	160;160	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	V	160	ENSP00000388878:A160V;ENSP00000346401:A160V;ENSP00000252688:A160V	ENSP00000252688:A160V	A	+	2	0	KIF25	168182243	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.272000	0.18644	-0.918000	0.03808	-0.166000	0.13349	GCG		0.587	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1		
WDR27	253769	broad.mit.edu	37	6	170068277	170068277	+	Missense_Mutation	SNP	C	C	T	rs375738312		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:170068277C>T	ENST00000448612.1	-	5	570	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	WDR27_ENST00000333572.6_Missense_Mutation_p.R154Q|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000546525.1_5'Flank|WDR27_ENST00000420344.2_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	152						nucleus (GO:0005634)		p.R154Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CACAGAAAATCGCTGCTATTA	0.433																																					p.R154Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G461A	6						.	C	,GLN/ARG	0,3838		0,0,1919	90.0	102.0	98.0		,461	-2.9	0.0	6		98	1,8265		0,1,4132	no	intron,missense	WDR27	NM_001202550.1,NM_182552.4	,43	0,1,6051	TT,TC,CC		0.0121,0.0,0.0083	,benign	,154/896	170068277	1,12103	1919	4133	6052	169810202	SO:0001583	missense	253769	exon5			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.461G>A	6.37:g.170068277C>T	ENSP00000416289:p.Arg154Gln		169810202	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	C	6.400	0.441900	0.12164	0.0	1.21E-4	ENSG00000184465	ENST00000448612;ENST00000333572	T;T	0.40756	2.02;1.02	4.77	-2.93	0.05598	.	2.668540	0.01974	N	0.044286	T	0.08313	0.0207	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.07271	-1.0781	10	0.17832	T	0.49	.	1.0524	0.01582	0.3819:0.2992:0.1752:0.1438	.	154;154	F2Z2U5;C9JGV0	.;.	Q	154	ENSP00000416289:R154Q;ENSP00000330265:R154Q	ENSP00000330265:R154Q	R	-	2	0	WDR27	169810202	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-0.875000	0.04022	-1.356000	0.01223	CGA		0.433	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	
WDR27	253769	broad.mit.edu	37	6	170089027	170089027	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:170089027A>G	ENST00000448612.1	-	2	184	c.75T>C	c.(73-75)gtT>gtC	p.V25V	WDR27_ENST00000333572.6_Silent_p.V25V|WDR27_ENST00000423258.1_Silent_p.V25V|WDR27_ENST00000420344.2_Silent_p.V25V	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	25						nucleus (GO:0005634)		p.V25V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCTTGGATTCAACCAGGTATT	0.393																																					p.V25V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T75C	6						.						86.0	85.0	86.0					6																	170089027		1941	4156	6097	169830952	SO:0001819	synonymous_variant	253769	exon2			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.75T>C	6.37:g.170089027A>G			169830952	NM_182552	A5PLM8|C9JGV0|Q5T066	Silent	SNP	ENST00000448612.1	37	CCDS47520.2																																																																																				0.393	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	
TUBB2B	347733	broad.mit.edu	37	6	3226446	3226446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:3226446G>A	ENST00000259818.7	-	3	415	c.224C>T	c.(223-225)tCg>tTg	p.S75L	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	75					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|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.S75L(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGACCTAACCGAATCCATCGT	0.522																																					p.S75L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C224T	6						.						109.0	93.0	99.0					6																	3226446		2203	4300	6503	3171445	SO:0001583	missense	347733	exon3			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.224C>T	6.37:g.3226446G>A	ENSP00000259818:p.Ser75Leu		3171445	NM_178012	A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045221	0.36085	.	.	ENSG00000137285	ENST00000259818	T	0.69685	-0.42	5.31	5.31	0.75309	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.56097	D	0.000030	T	0.72914	0.3520	M	0.85542	2.76	0.80722	D	1	B	0.31655	0.334	B	0.42462	0.388	T	0.77062	-0.2727	10	0.87932	D	0	.	18.9727	0.92721	0.0:0.0:1.0:0.0	.	75	Q9BVA1	TBB2B_HUMAN	L	75	ENSP00000259818:S75L	ENSP00000259818:S75L	S	-	2	0	TUBB2B	3171445	1.000000	0.71417	0.941000	0.38009	0.261000	0.26267	7.871000	0.87180	2.471000	0.83476	0.563000	0.77884	TCG		0.522	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012	
FAM217A	222826	broad.mit.edu	37	6	4069071	4069071	+	Silent	SNP	C	C	T	rs144485598	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:4069071C>T	ENST00000274673.3	-	7	1789	c.1386G>A	c.(1384-1386)ccG>ccA	p.P462P	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	462								p.P462P(1)									AGTTTCTCTTCGGTGCCTTAA	0.408													C|||	11	0.00219649	0.0083	0.0	5008	,	,		18645	0.0		0.0	False		,,,				2504	0.0				p.P462P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1386A	6						.	C		38,4368	43.1+/-76.7	0,38,2165	78.0	82.0	81.0		1386	0.8	0.2	6	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	C6orf146	NM_173563.2		0,38,6465	TT,TC,CC		0.0,0.8625,0.2922		462/509	4069071	38,12968	2203	4300	6503	4014070	SO:0001819	synonymous_variant	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.1386G>A	6.37:g.4069071C>T			4014070	NM_173563	Q5JYK1	Silent	SNP	ENST00000274673.3	37	CCDS4489.1																																																																																				0.408	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563	
FARS2	10667	broad.mit.edu	37	6	5368970	5368970	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:5368970A>C	ENST00000324331.6	+	2	503	c.167A>C	c.(166-168)aAa>aCa	p.K56T	FARS2_ENST00000274680.4_Missense_Mutation_p.K56T			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	56					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.K56T(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)	CTGCTGGGCAAATCCTACCCT	0.612																																					p.K56T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A167C	6						.						72.0	59.0	63.0					6																	5368970		2203	4300	6503	5313969	SO:0001583	missense	10667	exon2			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.167A>C	6.37:g.5368970A>C	ENSP00000316335:p.Lys56Thr		5313969	NM_006567	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	A	4.509	0.094403	0.08632	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.56103	0.48;0.48	5.45	0.413	0.16401	.	0.482456	0.24354	N	0.039260	T	0.15046	0.0363	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31052	-0.9957	10	0.25106	T	0.35	-19.1316	6.7632	0.23552	0.6225:0.1183:0.2592:0.0	.	56	O95363	SYFM_HUMAN	T	56	ENSP00000274680:K56T;ENSP00000316335:K56T	ENSP00000274680:K56T	K	+	2	0	FARS2	5313969	0.588000	0.26799	0.000000	0.03702	0.891000	0.51852	2.058000	0.41374	-0.348000	0.08286	-1.256000	0.01477	AAA		0.612	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567	
NUP153	9972	broad.mit.edu	37	6	17637604	17637604	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:17637604C>T	ENST00000262077.2	-	16	2243	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	NUP153_ENST00000537253.1_Silent_p.P779P	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	748					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 RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.P748P(2)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTCCAGGTTTCGGTGTTTCAC	0.433																																					p.P748P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2244A	6						.						183.0	180.0	181.0					6																	17637604		2203	4300	6503	17745583	SO:0001819	synonymous_variant	9972	exon16			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2244G>A	6.37:g.17637604C>T			17745583	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	CCDS4541.1																																																																																				0.433	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
KIF13A	63971	broad.mit.edu	37	6	17852251	17852251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:17852251G>A	ENST00000259711.6	-	7	622	c.517C>T	c.(517-519)Cga>Tga	p.R173*	KIF13A_ENST00000378843.2_Nonsense_Mutation_p.R173*|KIF13A_ENST00000378814.5_Nonsense_Mutation_p.R173*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.R173*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.R173*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	173	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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.R173*(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)			TTATGTTCTCGAACTTTAAGA	0.363																																					p.R173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C517T	6						.						44.0	43.0	43.0					6																	17852251		1819	4071	5890	17960230	SO:0001587	stop_gained	63971	exon7			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.517C>T	6.37:g.17852251G>A	ENSP00000259711:p.Arg173*		17960230	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	37	6.397490	0.97533	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	6.07	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5075	0.75753	0.0661:0.0:0.9339:0.0	.	.	.	.	X	173	.	ENSP00000259711:R173X	R	-	1	2	KIF13A	17960230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.308000	0.59129	1.581000	0.49865	0.655000	0.94253	CGA		0.363	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
KDM1B	221656	broad.mit.edu	37	6	18200707	18200707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:18200707G>A	ENST00000297792.5	+	11	1040	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	KDM1B_ENST00000397244.1_Missense_Mutation_p.R288Q|KDM1B_ENST00000388870.2_Missense_Mutation_p.R420Q|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	420	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.R288Q(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATTGGAGGCCGAGTCTGGGAT	0.423																																					p.R288Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863A	6						.						132.0	133.0	133.0					6																	18200707		2203	4300	6503	18308686	SO:0001583	missense	221656	exon11			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.863G>A	6.37:g.18200707G>A	ENSP00000297792:p.Arg288Gln		18308686	NM_153042	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.721646|5.721646	0.96839|0.96839	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000449850|ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	.|D;T;T	.|0.97710	.|-4.5;2.4;2.4	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Amine oxidase (1);	.|0.203849	.|0.43416	.|D	.|0.000579	D|D	0.99168|0.99168	0.9712|0.9712	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.97110	.|1.0;0.992	D|D	0.99305|0.99305	1.0902|1.0902	5|10	.|0.72032	.|D	.|0.01	-14.9019|-14.9019	19.108|19.108	0.93305|0.93305	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|420;288	.|Q8NB78;A2A2C6	.|KDM1B_HUMAN;.	K|Q	237|420;288;288;420	.|ENSP00000373522:R420Q;ENSP00000380419:R288Q;ENSP00000297792:R288Q	.|ENSP00000297792:R288Q	E|R	+|+	1|2	0|0	KDM1B|KDM1B	18308686|18308686	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.531000|2.531000	0.85337|0.85337	0.585000|0.585000	0.79938|0.79938	GAG|CGA		0.423	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042	
DEK	7913	broad.mit.edu	37	6	18222190	18222190	+	IGR	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:18222190C>T	ENST00000397239.3	-	0	3427				KDM1B_ENST00000397244.1_Silent_p.G581G|KDM1B_ENST00000297792.5_Silent_p.G580G|KDM1B_ENST00000388870.2_Silent_p.G813G|KDM1B_ENST00000546309.2_Silent_p.G103G	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene						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.G580G(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)			ATTTGAGTGGCGTTCGAGAAG	0.403			T	NUP214	AML																																p.G580G			Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1740T	6						.						163.0	153.0	156.0					6																	18222190		2203	4300	6503	18330169	SO:0001628	intergenic_variant	221656	exon18			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		6.37:g.18222190C>T			18330169	NM_153042	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	9.174	1.021943	0.19433	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.95	-0.577	0.11727	.	.	.	.	.	T	0.38852	0.1056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33189	-0.9878	4	.	.	.	-2.1597	7.6906	0.28565	0.0:0.4189:0.1339:0.4472	.	.	.	.	V	630	.	.	A	+	2	0	KDM1B	18330169	0.002000	0.14202	0.998000	0.56505	0.996000	0.88848	-1.642000	0.02006	-0.046000	0.13446	-0.290000	0.09829	GCG		0.403	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4		
MBOAT1	154141	broad.mit.edu	37	6	20124704	20124704	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:20124704C>T	ENST00000324607.7	-	8	1006	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	MBOAT1_ENST00000541730.1_Missense_Mutation_p.R132Q	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	281					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.R281Q(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)			GTAGCAGAGTCGAGCCGGAAA	0.448																																					p.R281Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G842A	6						.						155.0	134.0	141.0					6																	20124704		2203	4300	6503	20232683	SO:0001583	missense	154141	exon8			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.842G>A	6.37:g.20124704C>T	ENSP00000324944:p.Arg281Gln		20232683	NM_001080480	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777785	0.31502	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.36340	1.26;1.26	5.61	3.84	0.44239	.	0.047394	0.85682	N	0.000000	T	0.15609	0.0376	L	0.42529	1.33	0.80722	D	1	B;P	0.48016	0.068;0.904	B;B	0.36666	0.047;0.23	T	0.02385	-1.1167	10	0.56958	D	0.05	-12.2298	12.5721	0.56342	0.0:0.8645:0.0:0.1355	.	132;281	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	Q	132;281	ENSP00000441568:R132Q;ENSP00000324944:R281Q	ENSP00000324944:R281Q	R	-	2	0	MBOAT1	20232683	0.995000	0.38212	0.246000	0.24233	0.286000	0.27126	3.050000	0.49877	0.848000	0.35191	-0.137000	0.14449	CGA		0.448	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		
PRL	5617	broad.mit.edu	37	6	22290546	22290546	+	Nonsense_Mutation	SNP	G	G	A	rs6238		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:22290546G>A	ENST00000306482.1	-	4	867	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	117					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.R117*(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TTCCAGGATCGCAATATGCTG	0.428																																					p.R117X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C349T	6						.						115.0	108.0	110.0					6																	22290546		2203	4300	6503	22398525	SO:0001587	stop_gained	5617	exon4			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.349C>T	6.37:g.22290546G>A	ENSP00000302150:p.Arg117*		22398525	NM_000948	Q15199|Q92996	Nonsense_Mutation	SNP	ENST00000306482.1	37	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	G	39	7.431791	0.98279	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	.	.	.	5.87	4.09	0.47781	.	0.376195	0.34088	N	0.004279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.517	11.4725	0.50278	0.0648:0.0:0.8089:0.1263	rs6238;rs6238	.	.	.	X	117;86	.	ENSP00000302150:R117X	R	-	1	2	PRL	22398525	1.000000	0.71417	0.907000	0.35723	0.291000	0.27294	2.288000	0.43514	0.923000	0.37045	0.655000	0.94253	CGA		0.428	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948	
HDGFL1	154150	broad.mit.edu	37	6	22570002	22570002	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:22570002C>T	ENST00000230012.3	+	1	325	c.198C>T	c.(196-198)ttC>ttT	p.F66F	HDGFL1_ENST00000510882.2_Silent_p.F66F	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	66								p.F66F(1)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AGGAGAAGTTCGGCAAGCCCA	0.612																																					p.F66F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198T	6						.						54.0	54.0	54.0					6																	22570002		2203	4300	6503	22677981	SO:0001819	synonymous_variant	154150	exon1			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.198C>T	6.37:g.22570002C>T			22677981	NM_138574	Q96MJ6	Silent	SNP	ENST00000230012.3	37	CCDS34347.1																																																																																				0.612	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574	
KIAA0319	9856	broad.mit.edu	37	6	24581193	24581193	+	Missense_Mutation	SNP	C	C	T	rs377274531		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:24581193C>T	ENST00000378214.3	-	7	1764	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	KIAA0319_ENST00000535378.1_Missense_Mutation_p.A405T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A414T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A414T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A369T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	414	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A414T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCTCCAAAGGCGTTTTCACTA	0.413											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A414T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	6						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	144.0	140.0	141.0		1213,1240,1105,1240,1240	4.5	1.0	6		141	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	405/1064,414/1073,369/1028,414/1012,414/1073	24581193	1,13005	2203	4300	6503	24689172	SO:0001583	missense	9856	exon7			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1240G>A	6.37:g.24581193C>T	ENSP00000367459:p.Ala414Thr	772	24689172	NM_001168377	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259613	0.95368	2.27E-4	0.0	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08984	3.03;3.03;3.04;3.03;3.03	4.53	4.53	0.55603	PKD/Chitinase domain (1);Fibronectin, type III (1);	0.314588	0.27072	N	0.021065	T	0.21062	0.0507	M	0.86573	2.825	0.54753	D	0.99998	D;D;P	0.63880	0.993;0.988;0.941	P;P;P	0.56563	0.801;0.801;0.739	T	0.08493	-1.0719	10	0.66056	D	0.02	-8.0672	17.4492	0.87587	0.0:1.0:0.0:0.0	.	414;405;414	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	414;405;369;414;414	ENSP00000439700:A414T;ENSP00000442403:A405T;ENSP00000401086:A369T;ENSP00000367459:A414T;ENSP00000437656:A414T	ENSP00000367459:A414T	A	-	1	0	KIAA0319	24689172	1.000000	0.71417	0.957000	0.39632	0.872000	0.50106	3.661000	0.54503	2.334000	0.79466	0.655000	0.94253	GCC		0.413	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
FAM65B	9750	broad.mit.edu	37	6	24850926	24850926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:24850926G>A	ENST00000259698.4	-	10	872	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	FAM65B_ENST00000540914.1_Missense_Mutation_p.R233W|FAM65B_ENST00000538035.1_Missense_Mutation_p.R262W|FAM65B_ENST00000510784.2_Missense_Mutation_p.R267W|FAM65B_ENST00000378023.4_Missense_Mutation_p.R233W	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	233					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.R233W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGTTTCCACCGCTGCCGGCCA	0.483																																					p.R233W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C697T	6						.						140.0	147.0	145.0					6																	24850926		1981	4150	6131	24958905	SO:0001583	missense	9750	exon10			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.697C>T	6.37:g.24850926G>A	ENSP00000259698:p.Arg233Trp		24958905	NM_015864	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925215	0.73213	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15	5.79	-1.38	0.09027	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	M	0.77313	2.365	0.58432	D	0.999996	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	T	0.05818	-1.0862	10	0.87932	D	0	-26.7946	18.1364	0.89620	0.0:0.0:0.5821:0.4179	.	267;262;233;233	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	W	233;262;233;233;267	ENSP00000259698:R233W;ENSP00000441138:R262W;ENSP00000367262:R233W;ENSP00000438425:R233W;ENSP00000441305:R267W	ENSP00000259698:R233W	R	-	1	2	FAM65B	24958905	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	0.878000	0.28126	-0.168000	0.10853	-0.410000	0.06199	CGG		0.483	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2		
SLC17A1	6568	broad.mit.edu	37	6	25799141	25799141	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:25799141C>T	ENST00000244527.4	-	12	1391	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	SLC17A1_ENST00000476801.1_Missense_Mutation_p.E426K|SLC17A1_ENST00000427328.1_Missense_Mutation_p.E372K|SLC17A1_ENST00000468082.1_Missense_Mutation_p.E372K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	426					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.E426K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CAGGCGGATTCCGGATCCTAA	0.338																																					p.E426K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A	6						.						63.0	63.0	63.0					6																	25799141		2203	4300	6503	25907120	SO:0001583	missense	6568	exon12				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1276G>A	6.37:g.25799141C>T	ENSP00000244527:p.Glu426Lys		25907120	NM_005074	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472803	0.63737	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.69806	-0.14;-0.43;-0.14;-0.43	3.97	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.380599	0.19290	N	0.117907	T	0.61375	0.2342	M	0.64997	1.995	0.21579	N	0.99964	D;D	0.76494	0.999;0.998	D;D	0.71184	0.972;0.954	T	0.55153	-0.8185	10	0.06365	T	0.9	.	11.7678	0.51941	0.0:1.0:0.0:0.0	.	372;426	Q14916-2;Q14916	.;NPT1_HUMAN	K	426;372;426;372	ENSP00000244527:E426K;ENSP00000410549:E372K;ENSP00000420614:E426K;ENSP00000420546:E372K	ENSP00000244527:E426K	E	-	1	0	SLC17A1	25907120	0.234000	0.23783	0.798000	0.32154	0.722000	0.41435	3.063000	0.49978	2.216000	0.71823	0.655000	0.94253	GAA		0.338	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		
BTN2A2	10385	broad.mit.edu	37	6	26392620	26392620	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:26392620C>A	ENST00000356709.4	+	8	1108	c.997C>A	c.(997-999)Cca>Aca	p.P333T	BTN2A2_ENST00000416795.2_Missense_Mutation_p.P333T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.P123T|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.P217T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	333	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P333T(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGTCCTGGATCCAGACACCGC	0.587																																					p.P333T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997A	6						.						55.0	54.0	54.0					6																	26392620		2203	4300	6503	26500599	SO:0001583	missense	10385	exon8			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.997C>A	6.37:g.26392620C>A	ENSP00000349143:p.Pro333Thr		26500599	NM_006995	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	17.78	3.473099	0.63737	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	3.92	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.425860	0.20242	N	0.096273	T	0.40979	0.1139	H	0.94582	3.555	0.34525	D	0.708533	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.73708	0.981;0.976;0.979	T	0.51004	-0.8760	10	0.87932	D	0	.	7.0303	0.24962	0.1981:0.6096:0.1923:0.0	.	123;217;333	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	T	128;333;217;123;333	ENSP00000418965:P128T;ENSP00000349143:P333T;ENSP00000337117:P217T;ENSP00000419451:P123T;ENSP00000399308:P333T	ENSP00000337117:P217T	P	+	1	0	BTN2A2	26500599	0.707000	0.27866	0.873000	0.34254	0.946000	0.59487	2.252000	0.43196	0.743000	0.32719	0.454000	0.30748	CCA		0.587	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1		
BTN3A1	11119	broad.mit.edu	37	6	26413703	26413703	+	Missense_Mutation	SNP	G	G	A	rs147166656	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:26413703G>A	ENST00000289361.6	+	10	1693	c.1325G>A	c.(1324-1326)cGg>cAg	p.R442Q	BTN3A1_ENST00000414912.2_Missense_Mutation_p.R390Q	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R442Q(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AATAAGTATCGGACTCTAACT	0.468													G|||	4	0.000798722	0.003	0.0	5008	,	,		18269	0.0		0.0	False		,,,				2504	0.0				p.R390Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G1169A	6						.	G	GLN/ARG,,GLN/ARG,	13,4393		0,13,2190	140.0	141.0	141.0		1169,,1325,	-1.8	0.0	6	dbSNP_134	141	0,8600		0,0,4300	yes	missense,utr-3,missense,utr-3	BTN3A1	NM_001145008.1,NM_001145009.1,NM_007048.5,NM_194441.2	43,,43,	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	probably-damaging,,probably-damaging,	390/462,,442/514,	26413703	13,12993	2203	4300	6503	26521682	SO:0001583	missense	11119	exon10			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1325G>A	6.37:g.26413703G>A	ENSP00000289361:p.Arg442Gln		26521682	NM_001145008	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	6.433	0.447934	0.12223	0.002951	0.0	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.68181	-0.31;-0.31	2.31	-1.84	0.07809	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.17704	0.0425	N	0.10685	0.025	0.09310	N	1	B;B	0.26041	0.06;0.14	B;B	0.20184	0.013;0.028	T	0.20140	-1.0284	9	0.22109	T	0.4	.	7.651	0.28348	0.6641:0.0:0.3359:0.0	.	390;442	E9PGB4;O00481	.;BT3A1_HUMAN	Q	442;390	ENSP00000289361:R442Q;ENSP00000406667:R390Q	ENSP00000289361:R442Q	R	+	2	0	BTN3A1	26521682	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.346000	0.07760	-0.573000	0.05998	-0.177000	0.13119	CGG		0.468	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		
ZNF391	346157	broad.mit.edu	37	6	27369123	27369123	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:27369123G>T	ENST00000244576.4	+	3	1519	c.974G>T	c.(973-975)aGa>aTa	p.R325I	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	325					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.R325I(1)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATTCATCAGAGAACTCATACC	0.448																																					p.R325I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974T	6						.						65.0	68.0	67.0					6																	27369123		2030	4233	6263	27477102	SO:0001583	missense	346157	exon3			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.974G>T	6.37:g.27369123G>T	ENSP00000244576:p.Arg325Ile		27477102	NM_001076781	B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947983	0.53186	.	.	ENSG00000124613	ENST00000244576	T	0.24908	1.83	3.91	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27313	0.0670	L	0.60957	1.885	0.41659	D	0.989175	D	0.61697	0.99	D	0.66602	0.945	T	0.05616	-1.0874	9	0.66056	D	0.02	.	6.7838	0.23662	0.2387:0.0:0.7613:0.0	.	325	Q9UJN7	ZN391_HUMAN	I	325	ENSP00000244576:R325I	ENSP00000244576:R325I	R	+	2	0	ZNF391	27477102	0.003000	0.15002	0.996000	0.52242	0.505000	0.33919	0.500000	0.22562	0.610000	0.30035	0.557000	0.71058	AGA		0.448	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781	
ZNF184	7738	broad.mit.edu	37	6	27419223	27419223	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:27419223C>A	ENST00000211936.6	-	6	2399	c.2115G>T	c.(2113-2115)aaG>aaT	p.K705N	ZNF184_ENST00000377419.1_Missense_Mutation_p.K705N	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	705					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.K705N(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						GGCTAAAAGTCTTTCTGCATT	0.403																																					p.K705N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2115T	6						.						148.0	152.0	151.0					6																	27419223		2203	4300	6503	27527202	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.2115G>T	6.37:g.27419223C>A	ENSP00000211936:p.Lys705Asn		27527202	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249367	0.39797	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.27890	1.64;1.64	4.95	0.571	0.17352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.127040	0.36268	N	0.002698	T	0.37348	0.1000	M	0.86343	2.81	0.24560	N	0.99398	D	0.89917	1.0	D	0.75484	0.986	T	0.12142	-1.0559	10	0.72032	D	0.01	.	4.1351	0.10167	0.1583:0.4389:0.0:0.4028	.	705	Q99676	ZN184_HUMAN	N	705;705;621	ENSP00000211936:K705N;ENSP00000366636:K705N	ENSP00000211936:K705N	K	-	3	2	ZNF184	27527202	0.000000	0.05858	0.997000	0.53966	0.972000	0.66771	-0.225000	0.09151	0.188000	0.20168	-0.218000	0.12543	AAG		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
ZNF184	7738	broad.mit.edu	37	6	27424650	27424650	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:27424650C>T	ENST00000211936.6	-	5	537	c.253G>A	c.(253-255)Gag>Aag	p.E85K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E85K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	85	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)|zinc ion binding (GO:0008270)	p.E85K(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						ATCCATGGCTCTGTCCCTTGC	0.453																																					p.E85K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	6						.						143.0	126.0	132.0					6																	27424650		2203	4300	6503	27532629	SO:0001583	missense	7738	exon5			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.253G>A	6.37:g.27424650C>T	ENSP00000211936:p.Glu85Lys		27532629	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882235	0.33255	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.08193	3.12;3.12	4.69	4.69	0.59074	Krueppel-associated box (2);	0.000000	0.49916	D	0.000130	T	0.05686	0.0149	M	0.64567	1.98	0.39697	D	0.971136	B	0.18013	0.025	B	0.15052	0.012	T	0.04930	-1.0917	10	0.46703	T	0.11	.	13.4323	0.61062	0.0:1.0:0.0:0.0	.	85	Q99676	ZN184_HUMAN	K	85	ENSP00000211936:E85K;ENSP00000366636:E85K	ENSP00000211936:E85K	E	-	1	0	ZNF184	27532629	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	4.275000	0.58927	2.894000	0.99253	0.655000	0.94253	GAG		0.453	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
HIST1H2BL	8340	broad.mit.edu	37	6	27775305	27775305	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:27775305T>C	ENST00000377401.2	-	1	404	c.380A>G	c.(379-381)tAa>tGa	p.*127*	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	0					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.*127*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CTTGAGAATTTACTTGGAGCT	0.577																																					p.X127X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A380G	6						.						78.0	81.0	80.0					6																	27775305		2203	4300	6503	27883284	SO:0001819	synonymous_variant	8340	exon1			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.380A>G	6.37:g.27775305T>C			27883284	NM_003519	B2R5A3|Q52LW9	Silent	SNP	ENST00000377401.2	37	CCDS4625.1																																																																																				0.577	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519	
OR2B6	26212	broad.mit.edu	37	6	27925291	27925291	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:27925291A>C	ENST00000244623.1	+	1	273	c.273A>C	c.(271-273)gtA>gtC	p.V91V		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V91V(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGGAAAGTAATCAGTTATC	0.418																																					p.V91V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A273C	6						.						82.0	78.0	79.0					6																	27925291		2203	4299	6502	28033270	SO:0001819	synonymous_variant	26212	exon1			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.273A>C	6.37:g.27925291A>C			28033270	NM_012367	O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	CCDS4642.1																																																																																				0.418	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1		
ZKSCAN8	7745	broad.mit.edu	37	6	28116257	28116257	+	Silent	SNP	C	C	T	rs146729116	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:28116257C>T	ENST00000330236.6	+	2	256	c.72C>T	c.(70-72)atC>atT	p.I24I	ZKSCAN8_ENST00000457389.2_Silent_p.I24I	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	24					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.I24I(1)									ATCTTGTAATCGTCAAGGTAG	0.502													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19538	0.0		0.0	False		,,,				2504	0.0				p.I24I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C72T	6						.						104.0	90.0	95.0					6																	28116257		2203	4300	6503	28224236	SO:0001819	synonymous_variant	7745	exon2				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.72C>T	6.37:g.28116257C>T			28224236	NM_006298	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	ENST00000330236.6	37	CCDS4645.1																																																																																				0.502	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2		
GPX5	2880	broad.mit.edu	37	6	28493868	28493868	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:28493868G>T	ENST00000412168.2	+	1	167	c.78G>T	c.(76-78)gaG>gaT	p.E26D	GPX5_ENST00000469384.1_Missense_Mutation_p.E26D|GPX6_ENST00000483058.1_Intron	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	26					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.E26D(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCAAGCAGGAGAAGATGAAGG	0.488																																					p.E26D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G78T	6						.						237.0	198.0	211.0					6																	28493868		2203	4300	6503	28601847	SO:0001583	missense	2880	exon1			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.78G>T	6.37:g.28493868G>T	ENSP00000392398:p.Glu26Asp		28601847	NM_003996	A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	7.054	0.565021	0.13498	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.10860	4.17;2.83	3.74	-1.34	0.09143	.	0.983167	0.08306	N	0.966200	T	0.02342	0.0072	L	0.53249	1.67	0.20975	N	0.999812	P;B	0.41673	0.759;0.005	B;B	0.32211	0.142;0.008	T	0.40757	-0.9546	10	0.34782	T	0.22	-12.1135	3.3884	0.07280	0.4444:0.0:0.3711:0.1845	.	26;26	A1A4Y0;O75715	.;GPX5_HUMAN	D	26	ENSP00000392398:E26D;ENSP00000419935:E26D	ENSP00000392398:E26D	E	+	3	2	GPX5	28601847	0.678000	0.27586	0.296000	0.24974	0.170000	0.22686	-0.445000	0.06845	-0.311000	0.08754	0.650000	0.86243	GAG		0.488	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2		
ZNF311	282890	broad.mit.edu	37	6	28963055	28963055	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:28963055C>A	ENST00000377179.3	-	7	2236	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	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.R575I(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AGTGTGGATTCTTTTGTGCTG	0.498																																					p.R575I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1724T	6						.						120.0	104.0	110.0					6																	28963055		1511	2709	4220	29071034	SO:0001583	missense	282890	exon7			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1724G>T	6.37:g.28963055C>A	ENSP00000366384:p.Arg575Ile		29071034	NM_001010877	A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162262	0.57368	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.24908	1.83	3.79	3.79	0.43588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19765	0.0475	L	0.38733	1.17	0.29831	N	0.830038	D	0.59767	0.986	P	0.57371	0.819	T	0.02567	-1.1140	9	0.52906	T	0.07	-11.9631	9.3799	0.38306	0.2138:0.7862:0.0:0.0	.	575	Q5JNZ3	ZN311_HUMAN	I	575;483	ENSP00000366384:R575I	ENSP00000366384:R575I	R	-	2	0	ZNF311	29071034	0.000000	0.05858	0.466000	0.27168	0.991000	0.79684	-0.088000	0.11198	2.048000	0.60808	0.585000	0.79938	AGA		0.498	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581	
ZNF311	282890	broad.mit.edu	37	6	28963143	28963143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:28963143G>A	ENST00000377179.3	-	7	2148	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	546					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.R546*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGAATTCTTCGATGATTGGTC	0.453																																					p.R546X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1636T	6						.						96.0	89.0	92.0					6																	28963143		1511	2709	4220	29071122	SO:0001587	stop_gained	282890	exon7			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1636C>T	6.37:g.28963143G>A	ENSP00000366384:p.Arg546*		29071122	NM_001010877	A2BFK5|B0S7Y4|Q92971	Nonsense_Mutation	SNP	ENST00000377179.3	37	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	37	6.220897	0.97390	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	.	.	.	3.59	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-0.4298	4.775	0.13175	0.118:0.0:0.6644:0.2175	.	.	.	.	X	546;454	.	ENSP00000366384:R546X	R	-	1	2	ZNF311	29071122	0.156000	0.22821	0.002000	0.10522	0.270000	0.26580	0.330000	0.19715	0.757000	0.33036	0.585000	0.79938	CGA		0.453	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581	
OR2J3	442186	broad.mit.edu	37	6	29080290	29080290	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:29080290T>C	ENST00000377169.1	+	1	623	c.623T>C	c.(622-624)aTa>aCa	p.I208T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I208T(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ACAAGCTCCATATTTGTTCTC	0.453																																					p.I208T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T623C	6						.						103.0	114.0	111.0					6																	29080290		1317	2589	3906	29188269	SO:0001583	missense	442186	exon1				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.623T>C	6.37:g.29080290T>C	ENSP00000366374:p.Ile208Thr		29188269	NM_001005216	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	1.905	-0.452237	0.04540	.	.	ENSG00000204701	ENST00000377169	T	0.38722	1.12	2.78	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14614	0.0353	L	0.35542	1.07	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.31420	-0.9944	9	0.66056	D	0.02	.	7.7994	0.29166	0.0:0.1171:0.0:0.8829	.	208	O76001	OR2J3_HUMAN	T	208	ENSP00000366374:I208T	ENSP00000366374:I208T	I	+	2	0	OR2J3	29188269	0.000000	0.05858	0.021000	0.16686	0.040000	0.13550	0.532000	0.23067	1.268000	0.44264	0.358000	0.22013	ATA		0.453	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
MOG	4340	broad.mit.edu	37	6	29638093	29638093	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:29638093A>G	ENST00000376917.3	+	6	857	c.628A>G	c.(628-630)Acc>Gcc	p.T210A	MOG_ENST00000396704.3_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000376888.2_Missense_Mutation_p.T94A|MOG_ENST00000376894.4_Missense_Mutation_p.T210A|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Missense_Mutation_p.T172A|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.T210A|MOG_ENST00000396701.2_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_3'UTR	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	210					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.T210A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTGGAAGATAACCCTGTTTGT	0.522																																					p.T210A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A628G	6						.						212.0	204.0	207.0					6																	29638093		2203	4300	6503	29746072	SO:0001583	missense	4340	exon6				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.628A>G	6.37:g.29638093A>G	ENSP00000366115:p.Thr210Ala		29746072	NM_002433	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	11.82	1.753149	0.31046	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000416766;ENST00000376898	T;T;T;T;T	0.32272	3.45;1.46;3.43;3.33;3.46	5.68	1.79	0.24919	.	.	.	.	.	T	0.06554	0.0168	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B	0.10296	0.0;0.0;0.001;0.001;0.003	B;B;B;B;B	0.08055	0.002;0.001;0.003;0.001;0.002	T	0.12218	-1.0556	9	0.51188	T	0.08	.	4.1463	0.10217	0.6816:0.0:0.1688:0.1496	.	140;210;210;94;210	B7Z2X8;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;MOG_HUMAN;.;.;.	A	210;94;210;172;210	ENSP00000366115:T210A;ENSP00000366085:T94A;ENSP00000366091:T210A;ENSP00000409394:T172A;ENSP00000366095:T210A	ENSP00000366085:T94A	T	+	1	0	MOG	29746072	0.874000	0.30092	0.990000	0.47175	0.990000	0.78478	0.162000	0.16501	0.379000	0.24794	-0.441000	0.05720	ACC		0.522	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
TRIM10	10107	broad.mit.edu	37	6	30122190	30122190	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:30122190G>T	ENST00000449742.2	-	7	1077	c.1002C>A	c.(1000-1002)ttC>ttA	p.F334L	TRIM10_ENST00000376704.3_Missense_Mutation_p.F334L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.F334L(1)		ovary(1)	1						ATTTGTAGGAGAACTGAGCTC	0.567																																					p.F334L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1002A	6						.						61.0	72.0	68.0					6																	30122190		1509	2707	4216	30230169	SO:0001583	missense	10107	exon7			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.1002C>A	6.37:g.30122190G>T	ENSP00000397073:p.Phe334Leu		30230169	NM_006778	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826466	0.71143	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.09538	2.97;2.97	6.01	4.25	0.50352	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000010	T	0.07683	0.0193	L	0.28054	0.825	0.33080	D	0.536491	B;D	0.71674	0.31;0.998	B;D	0.76071	0.134;0.987	T	0.14448	-1.0472	10	0.13108	T	0.6	.	10.8202	0.46599	0.1528:0.0:0.8472:0.0	.	334;334	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	L	334	ENSP00000397073:F334L;ENSP00000365894:F334L	ENSP00000365894:F334L	F	-	3	2	TRIM10	30230169	0.000000	0.05858	0.995000	0.50966	0.845000	0.48019	-0.331000	0.07914	0.875000	0.35847	0.643000	0.83706	TTC		0.567	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
MDC1	9656	broad.mit.edu	37	6	30679861	30679861	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:30679861C>T	ENST00000376406.3	-	5	2505	c.1858G>A	c.(1858-1860)Gct>Act	p.A620T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A620T|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	620					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.A620T(1)		breast(2)|kidney(1)|ovary(1)	4						ACCTCATGAGCTCTCTCCTGC	0.572								Other conserved DNA damage response genes																													p.A620T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1858A	6						.						53.0	50.0	51.0					6																	30679861		1511	2709	4220	30787840	SO:0001583	missense	9656	exon5			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.1858G>A	6.37:g.30679861C>T	ENSP00000365588:p.Ala620Thr		30787840	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933530	0.18206	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02472	4.37;4.28	4.57	0.389	0.16269	.	0.843335	0.09683	N	0.769491	T	0.00666	0.0022	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.29862	0.154;0.154;0.259;0.035	B;B;B;B	0.28011	0.085;0.085;0.048;0.015	T	0.46569	-0.9182	10	0.31617	T	0.26	-0.0689	6.4511	0.21903	0.0:0.5493:0.0:0.4507	.	620;492;620;620	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	T	620;620;620;492	ENSP00000365588:A620T;ENSP00000365587:A620T	ENSP00000365587:A620T	A	-	1	0	MDC1	30787840	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.034000	0.13776	0.177000	0.19895	0.462000	0.41574	GCT		0.572	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
MICB	4277	broad.mit.edu	37	6	31474079	31474079	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:31474079C>T	ENST00000252229.6	+	3	564	c.485C>T	c.(484-486)gCt>gTt	p.A162V	MICB_ENST00000538442.1_Missense_Mutation_p.A130V|MICB_ENST00000399150.3_Missense_Mutation_p.A119V	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B									p.A162V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CAGACCTTGGCTATGAACGTC	0.522																																					p.A162V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485T	6						.						82.0	82.0	82.0					6																	31474079		1941	4152	6093	31582058	SO:0001583	missense	4277	exon3				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.485C>T	6.37:g.31474079C>T	ENSP00000252229:p.Ala162Val		31582058	NM_005931		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	12.77	2.038613	0.35989	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.05717	3.4;3.4;3.4	1.61	-0.449	0.12226	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.36519	U	0.002558	T	0.09335	0.0230	M	0.81497	2.545	0.09310	N	1	D;D;D	0.89917	1.0;0.987;0.999	D;D;P	0.83275	0.996;0.932;0.901	T	0.06373	-1.0830	10	0.87932	D	0	.	4.2649	0.10759	0.0:0.5945:0.2385:0.167	.	130;119;162	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	V	130;119;162	ENSP00000442345:A130V;ENSP00000382103:A119V;ENSP00000252229:A162V	ENSP00000252229:A162V	A	+	2	0	MICB	31582058	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.067000	0.11579	-0.148000	0.11234	0.305000	0.20034	GCT		0.522	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	
MSH5	4439	broad.mit.edu	37	6	31728555	31728555	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:31728555G>A	ENST00000375755.3	+	20	2187	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	MSH5_ENST00000375703.3_Missense_Mutation_p.R634Q|MSH5_ENST00000395853.1_Missense_Mutation_p.R308Q|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000375742.3_Missense_Mutation_p.R651Q|MSH5_ENST00000431848.2_Missense_Mutation_p.R333Q|MSH5_ENST00000534153.4_Missense_Mutation_p.R651Q|SAPCD1_ENST00000415669.2_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R651Q|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.R634Q|MSH5_ENST00000375740.3_Missense_Mutation_p.R651Q	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	634					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.R634Q(1)|p.R20Q(1)		breast(1)|ovary(2)|skin(2)	5						ATCTTCACACGAATTCATAGC	0.532								Direct reversal of damage;Mismatch excision repair (MMR)																													p.R651Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1952A	6						.						107.0	83.0	91.0					6																	31728555		1511	2709	4220	31836534	SO:0001583	missense	4439	exon20			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1901G>A	6.37:g.31728555G>A	ENSP00000364908:p.Arg634Gln		31836534	NM_025259	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402383	0.96030	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000491552	D;D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.73	4.86	0.63082	DNA mismatch repair protein MutS, C-terminal (2);	0.061993	0.64402	N	0.000003	D	0.96583	0.8885	H	0.95294	3.65	0.43714	D	0.996185	D;D;D;D;D	0.89917	0.997;0.997;0.998;0.999;1.0	P;P;D;D;D	0.85130	0.893;0.868;0.939;0.977;0.997	D	0.97732	1.0203	9	0.72032	D	0.01	-16.5066	12.4325	0.55581	0.081:0.0:0.919:0.0	.	319;651;634;634;651	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	Q	634;651;166;634;651;634;651;333;308;20	ENSP00000364908:R634Q;ENSP00000364894:R651Q;ENSP00000364903:R634Q;ENSP00000431693:R651Q;ENSP00000364855:R634Q;ENSP00000364892:R651Q;ENSP00000416784:R333Q;ENSP00000379194:R308Q	ENSP00000364855:R634Q	R	+	2	0	MSH5;MSH5-C6orf26	31836534	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.148000	0.77389	1.435000	0.47434	-0.218000	0.12543	CGA		0.532	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		
SLC44A4	80736	broad.mit.edu	37	6	31839315	31839315	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:31839315T>C	ENST00000229729.6	-	8	573	c.553A>G	c.(553-555)Acc>Gcc	p.T185A	SLC44A4_ENST00000465707.1_5'Flank|SLC44A4_ENST00000544672.1_Missense_Mutation_p.T109A|SLC44A4_ENST00000375562.4_Missense_Mutation_p.T143A	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	185					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T185A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTAACGTTGGTCCATGGAAAG	0.662																																					p.T143A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A427G	6						.						110.0	91.0	97.0					6																	31839315		2203	4300	6503	31947294	SO:0001583	missense	80736	exon7			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.553A>G	6.37:g.31839315T>C	ENSP00000229729:p.Thr185Ala		31947294	NM_001178044	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	T	2.399	-0.337932	0.05278	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.11712	3.16;2.75;2.98	4.07	-8.14	0.01069	.	2.617150	0.01467	N	0.016106	T	0.01254	0.0041	N	0.20685	0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34104	-0.9842	10	0.26408	T	0.33	-17.5008	1.1335	0.01750	0.1658:0.2467:0.3261:0.2614	.	143;185	E9PEK7;Q53GD3	.;CTL4_HUMAN	A	185;143;109	ENSP00000229729:T185A;ENSP00000364712:T143A;ENSP00000444109:T109A	ENSP00000229729:T185A	T	-	1	0	SLC44A4	31947294	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-5.357000	0.00128	-2.342000	0.00624	-0.669000	0.03829	ACC		0.662	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3		
TNXB	7148	broad.mit.edu	37	6	32015689	32015689	+	Silent	SNP	G	G	A	rs146798373	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:32015689G>A	ENST00000375244.3	-	30	10347	c.10146C>T	c.(10144-10146)ttC>ttT	p.F3382F	TNXB_ENST00000375247.2_Silent_p.F3380F|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3427	Fibronectin type-III 25. {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.F3447F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGAAGGAGTCGAATTCGCCCT	0.652													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19561	0.001		0.0	False		,,,				2504	0.0				p.F3380F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C10140T	6						.						46.0	56.0	53.0					6																	32015689		1466	2666	4132	32123667	SO:0001819	synonymous_variant	7148	exon30			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.10146C>T	6.37:g.32015689G>A			32123667	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.652	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	32017951	32017951	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:32017951T>C	ENST00000375244.3	-	27	9464	c.9263A>G	c.(9262-9264)gAc>gGc	p.D3088G	TNXB_ENST00000375247.2_Missense_Mutation_p.D3086G			P22105	TENX_HUMAN	tenascin XB	3133					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.D3153G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGAAGTGGTCAAACTGGCC	0.672																																					p.D3086G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9257G	6						.						68.0	73.0	72.0					6																	32017951		1231	2531	3762	32125929	SO:0001583	missense	7148	exon27			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.9263A>G	6.37:g.32017951T>C	ENSP00000364393:p.Asp3088Gly		32125929	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	t	20.2	3.951622	0.73787	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59502	0.26;0.26	3.59	3.59	0.41128	.	0.132495	0.34245	N	0.004131	T	0.67116	0.2859	M	0.92122	3.275	0.32602	N	0.525727	D	0.57257	0.979	P	0.56916	0.809	T	0.72191	-0.4365	10	0.59425	D	0.04	.	9.8298	0.40934	0.0:0.0:0.0:1.0	.	3086	P22105-3	.	G	3088;3086	ENSP00000364393:D3088G;ENSP00000364396:D3086G	ENSP00000364393:D3088G	D	-	2	0	TNXB	32125929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.414000	0.66405	1.493000	0.48517	0.374000	0.22700	GAC		0.672	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	32020625	32020625	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:32020625G>A	ENST00000375244.3	-	26	9138	c.8937C>T	c.(8935-8937)ttC>ttT	p.F2979F	TNXB_ENST00000375247.2_Silent_p.F2977F			P22105	TENX_HUMAN	tenascin XB	3024	Fibronectin type-III 21. {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.F3055F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGAAGGAGTCGAAGCGGCCCT	0.701																																					p.F2977F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8931T	6						.						50.0	55.0	53.0					6																	32020625		1237	2540	3777	32128603	SO:0001819	synonymous_variant	7148	exon26			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.8937C>T	6.37:g.32020625G>A			32128603	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	
ATF6B	1388	broad.mit.edu	37	6	32095976	32095976	+	Silent	SNP	C	C	T	rs1129551		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:32095976C>T	ENST00000375203.3	-	1	41	c.9G>A	c.(7-9)gaG>gaA	p.E3E	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Silent_p.E3E	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	3	Transcription activation.			E -> D (in Ref. 2; CAA66664). {ECO:0000305}.	response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E3E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCAGCATCAGCTCCGCCATCT	0.612																																					p.E3E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9A	6						.						53.0	51.0	52.0					6																	32095976		2203	4300	6503	32203954	SO:0001819	synonymous_variant	1388	exon1				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.9G>A	6.37:g.32095976C>T			32203954	NM_004381	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	CCDS4737.1																																																																																				0.612	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2		
FKBPL	63943	broad.mit.edu	37	6	32096894	32096894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:32096894G>A	ENST00000375156.3	-	2	934	c.664C>T	c.(664-666)Cga>Tga	p.R222*	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	222					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R222*(1)									TTCCCAGCTCGAAATAGTTCT	0.592																																					p.R222X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C664T	6						.						77.0	83.0	81.0					6																	32096894		2203	4300	6503	32204872	SO:0001587	stop_gained	63943	exon2			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.664C>T	6.37:g.32096894G>A	ENSP00000364298:p.Arg222*		32204872	NM_022110	A8K5V3|B0UYX8|Q9H5G3	Nonsense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	G	38	7.076669	0.98048	.	.	ENSG00000204315	ENST00000375156	.	.	.	5.38	3.52	0.40303	.	0.548879	0.15986	N	0.235069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-4.1946	11.7655	0.51928	0.0:0.0:0.5632:0.4368	.	.	.	.	X	222	.	ENSP00000364298:R222X	R	-	1	2	FKBPL	32204872	0.993000	0.37304	1.000000	0.80357	0.965000	0.64279	0.884000	0.28214	1.491000	0.48482	0.462000	0.41574	CGA		0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2		
NOTCH4	4855	broad.mit.edu	37	6	32169036	32169036	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:32169036G>A	ENST00000375023.3	-	22	4135	c.3997C>T	c.(3997-3999)Cgt>Tgt	p.R1333C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1333					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R1333C(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGCCATCACGATCCTTCCTT	0.622																																					p.K1333X												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.A3997T	6						.						60.0	66.0	64.0					6																	32169036		1510	2709	4219	32277014	SO:0001583	missense	4855	exon22				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3997C>T	6.37:g.32169036G>A	ENSP00000364163:p.Arg1333Cys		32277014	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095976	0.20552	.	.	ENSG00000204301	ENST00000375023	T	0.81415	-1.49	4.37	-5.24	0.02789	.	1.014740	0.07912	N	0.974387	T	0.38026	0.1025	N	0.08118	0	0.09310	N	1	P	0.41450	0.75	B	0.37346	0.247	T	0.43081	-0.9413	10	0.72032	D	0.01	.	6.5476	0.22414	0.0:0.2747:0.3915:0.3338	.	1333	Q99466	NOTC4_HUMAN	C	1333	ENSP00000364163:R1333C	ENSP00000364163:R1333C	R	-	1	0	NOTCH4	32277014	0.000000	0.05858	0.002000	0.10522	0.615000	0.37417	-2.462000	0.00997	-0.684000	0.05183	-0.538000	0.04264	CGT		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
PSMB9	5698	broad.mit.edu	37	6	32825836	32825836	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:32825836T>G	ENST00000374859.2	+	4	384	c.315T>G	c.(313-315)aaT>aaG	p.N105K	PSMB9_ENST00000453265.2_Missense_Mutation_p.N61K|PSMB9_ENST00000395330.1_Missense_Mutation_p.N82K	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	105					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 complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.N105K(1)		large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	TGGTGAGAAATATCAGCTATA	0.438																																					p.N105K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T315G	6						.						117.0	119.0	118.0					6																	32825836		1510	2709	4219	32933814	SO:0001583	missense	5698	exon4				CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.315T>G	6.37:g.32825836T>G	ENSP00000363993:p.Asn105Lys		32933814	NM_002800	B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	ENST00000374859.2	37	CCDS4759.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286210	0.40394	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859;ENST00000453265;ENST00000395333	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.0	-6.28	0.02020	.	0.224336	0.46442	D	0.000300	T	0.20333	0.0489	L	0.58925	1.835	0.32217	N	0.575755	P;P	0.48294	0.908;0.633	P;P	0.50537	0.643;0.507	T	0.19353	-1.0308	10	0.30854	T	0.27	-22.6369	11.5198	0.50545	0.1165:0.6964:0.0:0.187	.	61;105	B4DZW2;P28065	.;PSB9_HUMAN	K	82;82;105;61;61	ENSP00000378739:N82K;ENSP00000394363:N82K;ENSP00000363993:N105K;ENSP00000394773:N61K	ENSP00000363993:N105K	N	+	3	2	PSMB9	32933814	0.002000	0.14202	0.285000	0.24819	0.825000	0.46686	-1.898000	0.01602	-1.401000	0.02058	-0.436000	0.05848	AAT		0.438	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5	NM_002800	
BRD2	6046	broad.mit.edu	37	6	32948360	32948360	+	Splice_Site	SNP	G	G	A	rs199954603		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:32948360G>A	ENST00000374825.4	+	13	3972	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A	BRD2_ENST00000449085.2_Splice_Site_p.A710A|BRD2_ENST00000395287.1_Splice_Site_p.A792A|BRD2_ENST00000443797.2_Splice_Site_p.A637A|BRD2_ENST00000374831.4_Splice_Site_p.A757A|BRD2_ENST00000395289.2_Splice_Site_p.A792A	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	757					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.A792A(1)		central_nervous_system(3)|stomach(2)	5						GTTCTGCAGCGAATGAGAAAA	0.468																																					p.A757A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2271A	6						.						84.0	79.0	81.0					6																	32948360		1510	2709	4219	33056338	SO:0001630	splice_region_variant	6046	exon13			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2270-1G>A	6.37:g.32948360G>A			33056338	NM_005104	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963667	0.18583	.	.	ENSG00000204256	ENST00000449025	.	.	.	6.01	-1.91	0.07641	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	6.1634	0.20376	0.4791:0.2381:0.2827:0.0	.	.	.	.	Q	763	.	.	R	+	2	0	BRD2	33056338	0.114000	0.22134	0.794000	0.32065	0.740000	0.42216	-0.838000	0.04372	-0.184000	0.10567	-0.149000	0.13747	CGA		0.468	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		Silent
HLA-DPA1	3113	broad.mit.edu	37	6	33037439	33037439	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:33037439T>C	ENST00000419277.1	-	3	454	c.325A>G	c.(325-327)Aac>Gac	p.N109D	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.N109D|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	109	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.N109D(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TGAGTGTGGTTGGAACGCTGG	0.532																																					p.N109D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A325G	6						.						147.0	131.0	137.0					6																	33037439		1511	2709	4220	33145417	SO:0001583	missense	3113	exon2			X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.325A>G	6.37:g.33037439T>C	ENSP00000393566:p.Asn109Asp		33145417	NM_033554	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357207	0.41801	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000453337	T;T;T	0.01034	5.42;5.42;5.42	3.19	3.19	0.36642	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);	0.068167	0.56097	U	0.000025	T	0.03136	0.0092	M	0.91459	3.21	0.31951	N	0.609691	D	0.76494	0.999	D	0.79108	0.992	T	0.02358	-1.1171	10	0.87932	D	0	.	10.0603	0.42270	0.0:0.0:0.0:1.0	.	109	P20036	DPA1_HUMAN	D	109	ENSP00000393566:N109D;ENSP00000402872:N109D;ENSP00000390929:N109D	ENSP00000393566:N109D	N	-	1	0	HLA-DPA1	33145417	1.000000	0.71417	0.980000	0.43619	0.101000	0.19017	3.786000	0.55431	1.397000	0.46682	0.523000	0.50628	AAC		0.532	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554	
COL11A2	1302	broad.mit.edu	37	6	33139244	33139244	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:33139244C>A	ENST00000374708.4	-	41	3258	c.3000G>T	c.(2998-3000)aaG>aaT	p.K1000N	COL11A2_ENST00000395197.1_Splice_Site_p.K1026N|COL11A2_ENST00000374714.1_Splice_Site_p.K1060N|COL11A2_ENST00000341947.2_Splice_Site_p.K1086N|COL11A2_ENST00000357486.1_Splice_Site_p.K1065N|COL11A2_ENST00000361917.1_Splice_Site_p.K979N|COL11A2_ENST00000374712.1_Splice_Site_p.K1005N|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Splice_Site_p.K1039N	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1086	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.K1086N(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCCCCTCACCTTGTCTCCAT	0.627																																					p.K1000N	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3000T	6						.						30.0	33.0	32.0					6																	33139244		2203	4300	6503	33247222	SO:0001630	splice_region_variant	1302	exon41			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3000+1G>T	6.37:g.33139244C>A			33247222	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197753	0.58126	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.995	D	0.94623	0.7815	9	.	.	.	.	13.4768	0.61314	0.0:1.0:0.0:0.0	.	979;1000;1086	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	N	1000;1086;1065;1060;1039;1026;1005;979	ENSP00000363840:K1000N;ENSP00000339915:K1086N;ENSP00000350079:K1065N;ENSP00000363846:K1060N;ENSP00000363845:K1039N;ENSP00000378623:K1026N;ENSP00000363844:K1005N;ENSP00000355123:K979N	.	K	-	3	2	COL11A2	33247222	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.839000	0.69395	2.011000	0.59026	0.448000	0.29417	AAG		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		Missense_Mutation
COL11A2	1302	broad.mit.edu	37	6	33154439	33154439	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:33154439G>A	ENST00000374708.4	-	5	1021	c.763C>T	c.(763-765)Ctt>Ttt	p.L255F	COL11A2_ENST00000395197.1_Missense_Mutation_p.L255F|COL11A2_ENST00000374714.1_Missense_Mutation_p.L255F|COL11A2_ENST00000395194.1_Missense_Mutation_p.L255F|COL11A2_ENST00000341947.2_Missense_Mutation_p.L255F|COL11A2_ENST00000357486.1_Missense_Mutation_p.L255F|COL11A2_ENST00000361917.1_Missense_Mutation_p.L255F|COL11A2_ENST00000374712.1_Missense_Mutation_p.L255F|COL11A2_ENST00000374713.1_Missense_Mutation_p.L255F	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	255	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.L255F(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGCCTGTGAAGTCTTGATGGT	0.582																																					p.L255F	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C763T	6						.						226.0	216.0	219.0					6																	33154439		2203	4300	6503	33262417	SO:0001583	missense	1302	exon5			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.763C>T	6.37:g.33154439G>A	ENSP00000363840:p.Leu255Phe		33262417	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.937075	0.34189	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	D;D;D;D;D;D;D;D;D;T	0.90504	-2.51;-2.36;-2.43;-2.45;-2.41;-2.44;-2.53;-2.45;-2.68;1.72	4.21	4.21	0.49690	.	0.654464	0.13243	N	0.402720	D	0.89546	0.6746	L	0.29908	0.895	0.38156	D	0.938889	D;B;P;B	0.76494	0.999;0.0;0.867;0.0	D;B;B;B	0.80764	0.994;0.002;0.32;0.001	D	0.88039	0.2780	10	0.42905	T	0.14	.	12.248	0.54581	0.0:0.0:1.0:0.0	.	255;255;255;255	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	F	255	ENSP00000363840:L255F;ENSP00000339915:L255F;ENSP00000350079:L255F;ENSP00000363846:L255F;ENSP00000363845:L255F;ENSP00000378623:L255F;ENSP00000363844:L255F;ENSP00000355123:L255F;ENSP00000405520:L255F;ENSP00000378620:L255F	ENSP00000339915:L255F	L	-	1	0	COL11A2	33262417	1.000000	0.71417	0.895000	0.35142	0.496000	0.33645	3.234000	0.51320	2.342000	0.79632	0.442000	0.29010	CTT		0.582	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
RING1	6015	broad.mit.edu	37	6	33179772	33179772	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:33179772C>T	ENST00000374656.4	+	6	1320	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	371	Gly-rich.|Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A371V(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GGAGGCGGGGCGTTCACGGTG	0.607																																					p.A371V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1112T	6						.						14.0	16.0	15.0					6																	33179772		2180	4274	6454	33287750	SO:0001583	missense	6015	exon6				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1112C>T	6.37:g.33179772C>T	ENSP00000363787:p.Ala371Val		33287750	NM_002931	A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	C	8.051	0.766096	0.15983	.	.	ENSG00000204227	ENST00000374656	D	0.83837	-1.77	4.12	2.28	0.28536	.	0.210362	0.30556	N	0.009375	T	0.41143	0.1146	N	0.08118	0	0.09310	N	0.99999	P	0.48230	0.907	B	0.30716	0.119	T	0.44221	-0.9342	10	0.66056	D	0.02	-23.3714	9.8727	0.41185	0.5424:0.4576:0.0:0.0	.	371	Q06587	RING1_HUMAN	V	371	ENSP00000363787:A371V	ENSP00000363787:A371V	A	+	2	0	RING1	33287750	0.995000	0.38212	0.002000	0.10522	0.062000	0.15995	2.968000	0.49224	0.353000	0.24079	-0.332000	0.08345	GCG		0.607	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2		
VPS52	6293	broad.mit.edu	37	6	33236863	33236863	+	Missense_Mutation	SNP	C	C	T	rs535462681		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:33236863C>T	ENST00000445902.2	-	6	694	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R34Q	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.R159Q(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						CTGGCGATTTCGAAGTCGAAT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18793	0.0		0.0	False		,,,				2504	0.001				p.R159Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G476A	6						.						229.0	215.0	220.0					6																	33236863		1511	2709	4220	33344841	SO:0001583	missense	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.476G>A	6.37:g.33236863C>T	ENSP00000409952:p.Arg159Gln		33344841	NM_022553	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098271	0.37048	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.86	4.86	0.63082	.	0.060001	0.64402	D	0.000003	T	0.13841	0.0335	N	0.20685	0.6	0.34948	D	0.751003	B;B;B	0.32071	0.023;0.355;0.023	B;B;B	0.29440	0.014;0.102;0.014	T	0.06427	-1.0827	9	0.15066	T	0.55	-5.0307	9.2964	0.37817	0.0:0.9037:0.0:0.0963	.	137;34;159	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	Q	159;137;34	.	ENSP00000414785:R137Q	R	-	2	0	VPS52	33344841	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.010000	0.49559	2.708000	0.92522	0.471000	0.43371	CGA		0.517	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
ZBTB22	9278	broad.mit.edu	37	6	33283201	33283201	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:33283201C>T	ENST00000431845.2	-	2	1644	c.1493G>A	c.(1492-1494)aGc>aAc	p.S498N	TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.S498N|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	498					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.S498N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTCCCGCATGCTCTTGTGGGA	0.577																																					p.S498N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1493A	6						.						148.0	151.0	150.0					6																	33283201		2203	4300	6503	33391179	SO:0001583	missense	9278	exon2			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1493G>A	6.37:g.33283201C>T	ENSP00000407545:p.Ser498Asn		33391179	NM_005453	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980846	0.74474	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.79141	-1.24;-1.24	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39909	N	0.001230	T	0.56761	0.2007	L	0.59436	1.845	0.58432	D	0.999994	B	0.22683	0.073	B	0.28305	0.088	T	0.57831	-0.7743	10	0.02654	T	1	.	14.1425	0.65329	0.0:1.0:0.0:0.0	.	498	O15209	ZBT22_HUMAN	N	498	ENSP00000404403:S498N;ENSP00000407545:S498N	ENSP00000404403:S498N	S	-	2	0	ZBTB22	33391179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.587000	0.82613	2.178000	0.69098	0.448000	0.29417	AGC		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2		
UHRF1BP1	54887	broad.mit.edu	37	6	34827058	34827058	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:34827058A>G	ENST00000192788.5	+	14	3096	c.2925A>G	c.(2923-2925)ctA>ctG	p.L975L	UHRF1BP1_ENST00000452449.2_Silent_p.L975L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	975							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L975L(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						TAGAGTCCCTACAGGCCAAGA	0.582																																					p.L975L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2925G	6						.						41.0	44.0	43.0					6																	34827058		2039	4184	6223	34935036	SO:0001819	synonymous_variant	54887	exon14			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.2925A>G	6.37:g.34827058A>G			34935036	NM_017754	Q9NXE0	Silent	SNP	ENST00000192788.5	37	CCDS43455.1																																																																																				0.582	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
SCUBE3	222663	broad.mit.edu	37	6	35196485	35196485	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:35196485C>A	ENST00000274938.7	+	3	303	c.303C>A	c.(301-303)ttC>ttA	p.F101L	SCUBE3_ENST00000394681.1_Missense_Mutation_p.F101L	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.F101L(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						ATGATGGATTCCACCTGGCAC	0.502																																					p.F101L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C303A	6						.						234.0	167.0	190.0					6																	35196485		2203	4300	6503	35304463	SO:0001583	missense	222663	exon3			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.303C>A	6.37:g.35196485C>A	ENSP00000274938:p.Phe101Leu		35304463	NM_152753		Missense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413868	0.83449	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96522	-4.04;-4.04	5.31	2.56	0.30785	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	0.97269	0.9107	M	0.85041	2.73	0.46927	D	0.999255	D;D	0.61697	0.99;0.985	D;D	0.72982	0.979;0.977	D	0.96963	0.9703	10	0.72032	D	0.01	.	11.0207	0.47715	0.0:0.7978:0.0:0.2022	.	101;101	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	L	101	ENSP00000378174:F101L;ENSP00000274938:F101L	ENSP00000274938:F101L	F	+	3	2	SCUBE3	35304463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.584000	0.46102	0.370000	0.24538	0.655000	0.94253	TTC		0.502	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
ARMC12	221481	broad.mit.edu	37	6	35715086	35715086	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:35715086G>A	ENST00000373866.3	+	4	515	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	ARMC12_ENST00000373869.3_Missense_Mutation_p.E165K|ARMC12_ENST00000288065.2_Missense_Mutation_p.E192K			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	165						nucleus (GO:0005634)		p.E192K(1)									CTGGGACACGGAACTGCACAT	0.532																																					p.E192K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	6						.						156.0	146.0	149.0					6																	35715086		2203	4300	6503	35823064	SO:0001583	missense	221481	exon4			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.493G>A	6.37:g.35715086G>A	ENSP00000362973:p.Glu165Lys		35823064	NM_145028	Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37		.	.	.	.	.	.	.	.	.	.	G	14.43	2.534310	0.45073	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.66460	-0.21;-0.21;-0.21	4.3	4.3	0.51218	.	0.000000	0.48286	D	0.000197	T	0.28928	0.0718	L	0.34521	1.04	0.26326	N	0.977594	P;P	0.43938	0.573;0.822	B;B	0.38264	0.23;0.269	T	0.10520	-1.0626	10	0.11485	T	0.65	-7.7372	8.2476	0.31698	0.1129:0.0:0.8871:0.0	.	165;192	Q5T9G4-3;Q5T9G4-2	.;.	K	165;192;165	ENSP00000362976:E165K;ENSP00000288065:E192K;ENSP00000362973:E165K	ENSP00000288065:E192K	E	+	1	0	C6orf81	35823064	0.995000	0.38212	0.466000	0.27168	0.744000	0.42396	2.716000	0.47219	1.932000	0.55993	0.462000	0.41574	GAA		0.532	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028	
SRPK1	6732	broad.mit.edu	37	6	35838092	35838092	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:35838092C>A	ENST00000373825.2	-	10	1242	c.957G>T	c.(955-957)gaG>gaT	p.E319D	SRPK1_ENST00000423325.2_Missense_Mutation_p.E303D|SRPK1_ENST00000373822.1_Missense_Mutation_p.E212D					SRSF protein kinase 1									p.E319D(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TAGGTGGGTTCTCTTTCAAGG	0.373																																					p.E319D	NSCLC(31;67 978 16289 24856 26454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G957T	6						.						115.0	106.0	109.0					6																	35838092		1824	4072	5896	35946070	SO:0001583	missense	6732	exon10			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.957G>T	6.37:g.35838092C>A	ENSP00000362931:p.Glu319Asp		35946070	NM_003137		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222611	0.22457	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.28454	1.61;1.61;1.62;1.67	5.36	5.36	0.76844	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.07728	0.0194	N	0.19112	0.55	0.29341	N	0.86602	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.17806	-1.0357	9	0.16896	T	0.51	-6.7126	10.5783	0.45240	0.147:0.7111:0.1419:0.0	.	303;319	B4DS61;Q96SB4	.;SRPK1_HUMAN	D	319;335;303;212;57	ENSP00000362931:E319D;ENSP00000354674:E335D;ENSP00000391069:E303D;ENSP00000362928:E212D	ENSP00000354674:E335D	E	-	3	2	SRPK1	35946070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.438000	0.44837	2.527000	0.85204	0.555000	0.69702	GAG		0.373	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
SRPK1	6732	broad.mit.edu	37	6	35856592	35856592	+	Splice_Site	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:35856592T>G	ENST00000373825.2	-	4	587	c.302A>C	c.(301-303)cAg>cCg	p.Q101P	SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000423325.2_Splice_Site_p.Q85P|SRPK1_ENST00000373822.1_5'UTR					SRSF protein kinase 1									p.Q101P(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TAAAACTTACTGAATATCCCA	0.383																																					p.Q101P	NSCLC(31;67 978 16289 24856 26454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A302C	6						.						114.0	109.0	111.0					6																	35856592		1883	4105	5988	35964570	SO:0001630	splice_region_variant	6732	exon4			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.302+1A>C	6.37:g.35856592T>G			35964570	NM_003137		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940266	0.73557	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000512445	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.16471	0.0396	N	0.25890	0.77	0.80722	D	1	P;P	0.45474	0.621;0.859	P;P	0.55785	0.598;0.784	T	0.03534	-1.1027	8	.	.	.	-2.0896	14.0576	0.64779	0.0:0.0:0.0:1.0	.	85;101	B4DS61;Q96SB4	.;SRPK1_HUMAN	P	101;117;85;117	ENSP00000362931:Q101P;ENSP00000354674:Q117P;ENSP00000391069:Q85P;ENSP00000424068:Q117P	.	Q	-	2	0	SRPK1	35964570	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.988000	0.70579	2.151000	0.67156	0.460000	0.39030	CAG		0.383	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	Missense_Mutation
SLC26A8	116369	broad.mit.edu	37	6	35919255	35919255	+	Missense_Mutation	SNP	C	C	T	rs568126801		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:35919255C>T	ENST00000490799.1	-	18	2607	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	SLC26A8_ENST00000394602.2_Missense_Mutation_p.A647T|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A752T	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.A752T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AAAATGTTGGCGTTTTGAAAG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20646	0.0		0.0	False		,,,				2504	0.001				p.A752T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2254A	6						.						132.0	119.0	124.0					6																	35919255		2203	4300	6503	36027233	SO:0001583	missense	116369	exon18			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2254G>A	6.37:g.35919255C>T	ENSP00000417638:p.Ala752Thr		36027233	NM_052961		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	5.101	0.204201	0.09704	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.88046	-2.33;-2.33;-2.33	5.89	1.62	0.23740	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.506351	0.19921	N	0.103088	T	0.65780	0.2724	L	0.49126	1.545	0.09310	N	1	B;B;B	0.34061	0.363;0.436;0.313	B;B;B	0.27796	0.083;0.05;0.079	T	0.59026	-0.7531	10	0.59425	D	0.04	.	5.0277	0.14393	0.1518:0.5827:0.0:0.2654	.	752;647;334	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	T	752;647;752	ENSP00000417638:A752T;ENSP00000378100:A647T;ENSP00000347778:A752T	ENSP00000347778:A752T	A	-	1	0	SLC26A8	36027233	0.006000	0.16342	0.637000	0.29366	0.140000	0.21249	0.079000	0.14782	0.400000	0.25396	-0.152000	0.13540	GCC		0.453	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		
MAPK14	1432	broad.mit.edu	37	6	36075327	36075327	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:36075327G>A	ENST00000229794.4	+	11	1325	c.937G>A	c.(937-939)Gat>Aat	p.D313N	MAPK14_ENST00000310795.4_Silent_p.T286T|MAPK14_ENST00000468133.1_Missense_Mutation_p.D236N|MAPK14_ENST00000229795.3_Missense_Mutation_p.D313N	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	313					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.D313N(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TCAGTACCACGATCCTGATGA	0.468																																					p.D313N	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.G937A	6						.						147.0	133.0	138.0					6																	36075327		2203	4300	6503	36183305	SO:0001583	missense	1432	exon11			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.937G>A	6.37:g.36075327G>A	ENSP00000229794:p.Asp313Asn		36183305	NM_001315	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	G	36	5.785652	0.96937	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133	T;T;T	0.13778	2.56;2.56;2.56	5.96	5.96	0.96718	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.89	D;B	0.91635	0.999;0.374	T	0.09037	-1.0693	9	0.87932	D	0	-10.6888	20.4192	0.99033	0.0:0.0:1.0:0.0	.	313;313	Q16539;Q16539-2	MK14_HUMAN;.	N	313;313;236	ENSP00000229795:D313N;ENSP00000229794:D313N;ENSP00000419837:D236N	ENSP00000229794:D313N	D	+	1	0	MAPK14	36183305	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	GAT		0.468	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
C6orf89	221477	broad.mit.edu	37	6	36867326	36867326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:36867326G>T	ENST00000480824.2	+	3	400	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	C6orf89_ENST00000355190.3_Nonsense_Mutation_p.E43*|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Nonsense_Mutation_p.E36*			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	36					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E43*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GAAGGCAATTGAAAAATTTAT	0.443																																					p.E43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G127T	6						.						79.0	84.0	82.0					6																	36867326		2203	4300	6503	36975304	SO:0001587	stop_gained	221477	exon2			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.106G>T	6.37:g.36867326G>T	ENSP00000475947:p.Glu36*		36975304	NM_152734	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Nonsense_Mutation	SNP	ENST00000480824.2	37		.	.	.	.	.	.	.	.	.	.	G	39	7.809354	0.98501	.	.	ENSG00000198663	ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.8546	18.844	0.92196	0.0:0.0:1.0:0.0	.	.	.	.	X	43;36;43;42	.	ENSP00000347322:E43X	E	+	1	0	C6orf89	36975304	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.293000	0.89932	2.894000	0.99253	0.655000	0.94253	GAA		0.443	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734	
C6orf89	221477	broad.mit.edu	37	6	36891131	36891131	+	Missense_Mutation	SNP	G	G	A	rs79686273		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:36891131G>A	ENST00000480824.2	+	9	1252	c.958G>A	c.(958-960)Gac>Aac	p.D320N	C6orf89_ENST00000355190.3_Missense_Mutation_p.D327N|C6orf89_ENST00000359359.2_Missense_Mutation_p.D214N|C6orf89_ENST00000510325.2_Missense_Mutation_p.D214N|C6orf89_ENST00000373685.1_Missense_Mutation_p.D320N			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	320					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D327N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AGGCTATGTCGACACCACCCA	0.547																																					p.D327N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G979A	6						.	G	ASN/ASP	0,4406		0,0,2203	80.0	65.0	70.0		979	-0.1	0.0	6	dbSNP_131	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf89	NM_152734.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	327/355	36891131	1,13005	2203	4300	6503	36999109	SO:0001583	missense	221477	exon8			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.958G>A	6.37:g.36891131G>A	ENSP00000475947:p.Asp320Asn		36999109	NM_152734	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37		.	.	.	.	.	.	.	.	.	.	G	0.011	-1.729403	0.00687	0.0	1.16E-4	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.56	-0.0459	0.13849	.	0.433006	0.28895	N	0.013782	T	0.06462	0.0166	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.06405	0.0;0.002	T	0.42361	-0.9456	9	0.08837	T	0.75	-1.1886	8.9854	0.35990	0.5045:0.0:0.4955:0.0	.	320;327	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	N	214;214;327;320	.	ENSP00000347322:D327N	D	+	1	0	C6orf89	36999109	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.224000	0.17738	-0.137000	0.11455	-1.134000	0.01955	GAC		0.547	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734	
CMTR1	23070	broad.mit.edu	37	6	37440242	37440242	+	Silent	SNP	G	G	A	rs148292601		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:37440242G>A	ENST00000373451.4	+	16	1832	c.1668G>A	c.(1666-1668)tcG>tcA	p.S556S		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	556					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.S556S(2)									ACCCTAAATCGAAGTTCTTTG	0.458																																					p.S556S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1668A	6						.						107.0	98.0	101.0					6																	37440242		2203	4300	6503	37548220	SO:0001819	synonymous_variant	23070	exon16			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1668G>A	6.37:g.37440242G>A			37548220	NM_015050	A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	CCDS4835.1																																																																																				0.458	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
MDGA1	266727	broad.mit.edu	37	6	37622675	37622675	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:37622675G>A	ENST00000434837.3	-	5	1791	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	MDGA1_ENST00000505425.1_Missense_Mutation_p.R205W|MDGA1_ENST00000297153.7_Missense_Mutation_p.R205W	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	205	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.R205W(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCCTGGGGCCGCAGGTTCTTC	0.617																																					p.R205W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C613T	6						.						90.0	100.0	96.0					6																	37622675		2120	4219	6339	37730653	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.613C>T	6.37:g.37622675G>A	ENSP00000402584:p.Arg205Trp		37730653	NM_153487	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415258	0.83449	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.12774	2.65;2.65;2.65	5.71	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000421	T	0.26376	0.0644	L	0.60455	1.87	0.51767	D	0.999931	D	0.89917	1.0	D	0.81914	0.995	T	0.00852	-1.1540	10	0.87932	D	0	.	16.5588	0.84534	0.0:0.0:0.8609:0.1391	.	205	Q8NFP4	MDGA1_HUMAN	W	205	ENSP00000402584:R205W;ENSP00000297153:R205W;ENSP00000422042:R205W	ENSP00000297153:R205W	R	-	1	2	MDGA1	37730653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.484000	0.45242	2.700000	0.92200	0.650000	0.86243	CGG		0.617	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
DNAH8	1769	broad.mit.edu	37	6	38790796	38790796	+	Missense_Mutation	SNP	G	G	A	rs201420305		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:38790796G>A	ENST00000359357.3	+	25	3309	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DNAH8_ENST00000449981.2_Missense_Mutation_p.D1236N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1019N|SNORA8_ENST00000391284.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1019					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.D1019N(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGGACCGCGATGTGAAAGT	0.458																																					p.D1019N												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G3055A	6						.						106.0	109.0	108.0					6																	38790796		2203	4300	6503	38898774	SO:0001583	missense	1769	exon25			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.3055G>A	6.37:g.38790796G>A	ENSP00000352312:p.Asp1019Asn		38898774	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	4.188	0.033513	0.08101	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25250	1.84;1.84;1.81	5.53	3.74	0.42951	.	0.506879	0.21459	N	0.074190	T	0.07593	0.0191	L	0.41573	1.285	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30060	-0.9991	10	0.26408	T	0.33	.	9.9144	0.41425	0.0738:0.1382:0.788:0.0	.	1019	Q96JB1	DYH8_HUMAN	N	1224;1224;1019;1019	ENSP00000333363:D1224N;ENSP00000352312:D1019N;ENSP00000402294:D1019N	ENSP00000333363:D1224N	D	+	1	0	DNAH8	38898774	1.000000	0.71417	0.006000	0.13384	0.005000	0.04900	4.309000	0.59135	0.678000	0.31325	0.467000	0.42956	GAT		0.458	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38810443	38810443	+	Missense_Mutation	SNP	C	C	T	rs78877915	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:38810443C>T	ENST00000359357.3	+	33	4212	c.3958C>T	c.(3958-3960)Cgt>Tgt	p.R1320C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1320					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.R1320C(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						TGAAAGATGTCGTAAACTTCC	0.318													C|||	3	0.000599042	0.0	0.0	5008	,	,		19320	0.002		0.0	False		,,,				2504	0.001				p.R1320C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3958T	6						.	C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	51.0	57.0	55.0		4609	4.6	1.0	6	dbSNP_133	55	0,8600		0,0,4300	yes	missense	DNAH8	NM_001206927.1	180	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1537/4708	38810443	1,13001	2201	4300	6501	38918421	SO:0001583	missense	1769	exon33			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.3958C>T	6.37:g.38810443C>T	ENSP00000352312:p.Arg1320Cys		38918421	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	20.3	3.966167	0.74131	2.27E-4	0.0	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.62498	0.02;0.02;0.02	5.46	4.59	0.56863	Dynein heavy chain, domain-2 (1);	0.055231	0.64402	D	0.000001	D	0.83078	0.5176	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89433	0.3718	10	0.72032	D	0.01	.	16.6534	0.85222	0.0:0.87:0.13:0.0	.	1320	Q96JB1	DYH8_HUMAN	C	1525;1525;1320;1320	ENSP00000333363:R1525C;ENSP00000352312:R1320C;ENSP00000402294:R1320C	ENSP00000333363:R1525C	R	+	1	0	DNAH8	38918421	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.004000	0.57068	1.414000	0.47017	0.650000	0.86243	CGT		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38831667	38831667	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:38831667C>T	ENST00000359357.3	+	43	5932	c.5678C>T	c.(5677-5679)tCc>tTc	p.S1893F	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2110F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S1893F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1893	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.S1893F(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						CAGTCGGGTTCCTGGGGCTGT	0.358																																					p.S1893F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5678T	6						.						86.0	86.0	86.0					6																	38831667		2203	4300	6503	38939645	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.5678C>T	6.37:g.38831667C>T	ENSP00000352312:p.Ser1893Phe		38939645	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.675025	0.88445	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.10192	2.9;2.9;2.9	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);	0.115056	0.64402	D	0.000011	T	0.24736	0.0600	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00712	-1.1598	10	0.87932	D	0	.	19.7365	0.96208	0.0:1.0:0.0:0.0	.	1893	Q96JB1	DYH8_HUMAN	F	2098;2098;1893;1893	ENSP00000333363:S2098F;ENSP00000352312:S1893F;ENSP00000402294:S1893F	ENSP00000333363:S2098F	S	+	2	0	DNAH8	38939645	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.776000	0.85560	2.749000	0.94314	0.491000	0.48974	TCC		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38903405	38903405	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:38903405T>C	ENST00000359357.3	+	75	11098	c.10844T>C	c.(10843-10845)gTt>gCt	p.V3615A	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.V3832A|DNAH8_ENST00000441566.1_Missense_Mutation_p.V3579A|RP1-207H1.3_ENST00000453417.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3615	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.V3615A(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						TTGGAGGATGTTACTTTTAAT	0.308																																					p.V3615A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T10844C	6						.						164.0	184.0	177.0					6																	38903405		2203	4300	6503	39011383	SO:0001583	missense	1769	exon75			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.10844T>C	6.37:g.38903405T>C	ENSP00000352312:p.Val3615Ala		39011383	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	26.0	4.698361	0.88830	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.21031	2.03;2.03;2.03	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.21449	-1.0245	10	0.41790	T	0.15	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	3579;3615	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	A	3820;3820;3615;3579	ENSP00000333363:V3820A;ENSP00000352312:V3615A;ENSP00000402294:V3579A	ENSP00000333363:V3820A	V	+	2	0	DNAH8	39011383	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.021000	0.76425	2.289000	0.77006	0.482000	0.46254	GTT		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38957810	38957810	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:38957810T>G	ENST00000359357.3	+	86	12679	c.12425T>G	c.(12424-12426)tTt>tGt	p.F4142C	DNAH8_ENST00000441566.1_Missense_Mutation_p.F4106C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4142					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.F4142C(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						GAGAAGATGTTTGAACCGTCA	0.378																																					p.F4142C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T12425G	6						.						146.0	137.0	140.0					6																	38957810		2203	4300	6503	39065788	SO:0001583	missense	1769	exon86			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.12425T>G	6.37:g.38957810T>G	ENSP00000352312:p.Phe4142Cys		39065788	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	17.11	3.306765	0.60305	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.11277	2.79;2.79;2.79	4.92	4.92	0.64577	Dynein heavy chain (1);	0.065201	0.64402	D	0.000007	T	0.29321	0.0730	M	0.88842	2.985	0.54753	D	0.999989	D	0.89917	1.0	D	0.79108	0.992	T	0.20840	-1.0263	10	0.51188	T	0.08	.	14.5853	0.68320	0.0:0.0:0.0:1.0	.	4142	Q96JB1	DYH8_HUMAN	C	4347;4142;4106	ENSP00000333363:F4347C;ENSP00000352312:F4142C;ENSP00000402294:F4106C	ENSP00000333363:F4347C	F	+	2	0	DNAH8	39065788	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	5.626000	0.67777	1.845000	0.53610	0.477000	0.44152	TTT		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
GLP1R	2740	broad.mit.edu	37	6	39034011	39034011	+	Silent	SNP	C	C	A	rs199790397		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:39034011C>A	ENST00000373256.4	+	5	484	c.441C>A	c.(439-441)atC>atA	p.I147I		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	147					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.I147I(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TCTACATCATCTACACGGTGG	0.617																																					p.I147I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C441A	6						.						155.0	115.0	129.0					6																	39034011		2203	4300	6503	39141989	SO:0001819	synonymous_variant	2740	exon5				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.441C>A	6.37:g.39034011C>A			39141989	NM_002062	Q2M229|Q99669	Silent	SNP	ENST00000373256.4	37	CCDS4839.1																																																																																				0.617	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
KCNK5	8645	broad.mit.edu	37	6	39159259	39159259	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:39159259C>T	ENST00000359534.3	-	5	1245	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	303					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.D303Y(1)|p.D303N(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTGATGAGGTCGTTGTAGGTC	0.627																																					p.D303N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G907A	6						.						128.0	131.0	130.0					6																	39159259		2203	4300	6503	39267237	SO:0001583	missense	8645	exon5			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.907G>A	6.37:g.39159259C>T	ENSP00000352527:p.Asp303Asn		39267237	NM_003740	B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284198	0.95517	.	.	ENSG00000164626	ENST00000359534	T	0.25414	1.8	5.7	5.7	0.88788	.	2.194870	0.01375	N	0.012711	T	0.40222	0.1108	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.28364	-1.0046	10	0.49607	T	0.09	.	19.8471	0.96713	0.0:1.0:0.0:0.0	.	303	O95279	KCNK5_HUMAN	N	303	ENSP00000352527:D303N	ENSP00000352527:D303N	D	-	1	0	KCNK5	39267237	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	7.487000	0.81328	2.688000	0.91661	0.655000	0.94253	GAC		0.627	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740	
KCNK16	83795	broad.mit.edu	37	6	39286808	39286808	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:39286808G>A	ENST00000373229.5	-	2	328	c.315C>T	c.(313-315)gtC>gtT	p.V105V	KCNK16_ENST00000373227.4_Silent_p.V105V|KCNK16_ENST00000437525.2_Silent_p.V105V|KCNK16_ENST00000507712.1_Silent_p.V40V|KCNK16_ENST00000425054.2_Silent_p.V105V	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	105					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.V105V(1)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGGTAGTGACGACTGTGCCTG	0.532																																					p.V105V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	6						.						92.0	93.0	93.0					6																	39286808		2203	4300	6503	39394786	SO:0001819	synonymous_variant	83795	exon2			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.315C>T	6.37:g.39286808G>A			39394786	NM_001135106	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	CCDS4843.1																																																																																				0.532	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115	
APOBEC2	10930	broad.mit.edu	37	6	41029269	41029269	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:41029269G>A	ENST00000244669.2	+	2	378	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	112					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D112N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAGCCTTCGACCCAGCCCT	0.572																																					p.D112N	Ovarian(118;1320 2185 8096 29684)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	6						.						159.0	138.0	145.0					6																	41029269		2203	4300	6503	41137247	SO:0001583	missense	10930	exon2			AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.334G>A	6.37:g.41029269G>A	ENSP00000244669:p.Asp112Asn		41137247	NM_006789	B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	ENST00000244669.2	37	CCDS4848.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796277	0.31777	.	.	ENSG00000124701	ENST00000244669	T	0.39592	1.07	5.69	5.69	0.88448	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	0.137941	0.64402	D	0.000004	T	0.19927	0.0479	L	0.45051	1.395	0.41143	D	0.985972	B	0.16603	0.018	B	0.09377	0.004	T	0.06570	-1.0819	10	0.40728	T	0.16	.	9.4398	0.38661	0.076:0.1449:0.7791:0.0	.	112	Q9Y235	ABEC2_HUMAN	N	112	ENSP00000244669:D112N	ENSP00000244669:D112N	D	+	1	0	APOBEC2	41137247	1.000000	0.71417	0.956000	0.39512	0.473000	0.32948	4.063000	0.57499	2.676000	0.91093	0.655000	0.94253	GAC		0.572	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789	
TREM1	54210	broad.mit.edu	37	6	41250150	41250150	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:41250150C>T	ENST00000244709.4	-	2	452	c.389G>A	c.(388-390)cGc>cAc	p.R130H	TREM1_ENST00000591620.1_Missense_Mutation_p.R130H|TREM1_ENST00000334475.6_Missense_Mutation_p.R130H|TREM1_ENST00000589614.1_Missense_Mutation_p.R130H	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	130	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.R130H(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CACCACCAAGCGGATGCGATC	0.572																																					p.R130H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G389A	6						.						61.0	50.0	54.0					6																	41250150		2203	4300	6503	41358128	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.389G>A	6.37:g.41250150C>T	ENSP00000244709:p.Arg130His		41358128	NM_018643	B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303086	0.23736	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.17054	2.86;2.3	4.37	0.602	0.17535	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.497943	0.17215	N	0.182566	T	0.03827	0.0108	L	0.40543	1.245	0.09310	N	1	B;P	0.35700	0.173;0.516	B;B	0.32393	0.039;0.145	T	0.37454	-0.9705	10	0.33141	T	0.24	-5.3825	7.0	0.24805	0.0:0.6136:0.0:0.3864	.	130;130	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	H	130	ENSP00000244709:R130H;ENSP00000334284:R130H	ENSP00000244709:R130H	R	-	2	0	TREM1	41358128	0.051000	0.20477	0.259000	0.24435	0.001000	0.01503	-0.066000	0.11598	-0.007000	0.14345	-0.948000	0.02665	CGC		0.572	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643	
NCR2	9436	broad.mit.edu	37	6	41318518	41318518	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:41318518T>G	ENST00000373089.5	+	5	835	c.747T>G	c.(745-747)gtT>gtG	p.V249V	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	249					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V249V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ggacctcagtttcctcacctg	0.443																																					p.V249V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T747G	6						.						88.0	79.0	82.0					6																	41318518		2203	4300	6503	41426496	SO:0001819	synonymous_variant	9436	exon5			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.747T>G	6.37:g.41318518T>G			41426496	NM_004828	Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Silent	SNP	ENST00000373089.5	37	CCDS4855.1																																																																																				0.443	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3		
TRERF1	55809	broad.mit.edu	37	6	42232488	42232488	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:42232488T>C	ENST00000372922.4	-	7	2151	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	TRERF1_ENST00000340840.2_Missense_Mutation_p.H530R|TRERF1_ENST00000541110.1_Missense_Mutation_p.H530R|TRERF1_ENST00000372917.4_Missense_Mutation_p.H530R|TRERF1_ENST00000354325.2_Missense_Mutation_p.H530R	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	530	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H530R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACCGCATGTGGCCATTCAG	0.567																																					p.H530R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1589G	6						.						114.0	97.0	103.0					6																	42232488		2203	4300	6503	42340466	SO:0001583	missense	55809	exon7			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1589A>G	6.37:g.42232488T>C	ENSP00000362013:p.His530Arg		42340466	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165525	0.78339	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	D;T;D;T;D	0.99926	-8.05;0.17;-8.05;0.17;-8.05	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.64402	D	0.000020	D	0.99923	0.9964	M	0.92122	3.275	0.38626	D	0.951259	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.994;0.994	D	0.99975	1.2154	10	0.17832	T	0.49	-26.6061	15.0163	0.71588	0.0:0.0:0.0:1.0	.	530;530;530;369;369	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	R	530	ENSP00000439689:H530R;ENSP00000362008:H530R;ENSP00000362013:H530R;ENSP00000339438:H530R;ENSP00000346285:H530R	ENSP00000339438:H530R	H	-	2	0	TRERF1	42340466	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.155000	0.71833	1.952000	0.56665	0.460000	0.39030	CAC		0.567	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
UBR2	23304	broad.mit.edu	37	6	42604752	42604752	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:42604752A>C	ENST00000372899.1	+	15	1936	c.1678A>C	c.(1678-1680)Aaa>Caa	p.K560Q	UBR2_ENST00000372901.1_Missense_Mutation_p.K560Q|UBR2_ENST00000372883.3_Missense_Mutation_p.K64Q	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	560					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K560Q(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTTTAGGAAAAAGTGTTAAT	0.363																																					p.K560Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1678C	6						.						92.0	87.0	89.0					6																	42604752		2203	4300	6503	42712730	SO:0001583	missense	23304	exon15			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1678A>C	6.37:g.42604752A>C	ENSP00000361990:p.Lys560Gln		42712730	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470788	0.26423	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.51071	0.72;0.72;0.72	5.39	5.39	0.77823	.	0.198938	0.53938	D	0.000058	T	0.21062	0.0507	L	0.43923	1.385	0.46044	D	0.998837	B;B;B	0.21071	0.028;0.013;0.051	B;B;B	0.16289	0.01;0.006;0.015	T	0.07888	-1.0749	10	0.15066	T	0.55	-6.7536	11.6812	0.51458	0.8522:0.1478:0.0:0.0	.	560;560;64	Q8IWV8-4;Q8IWV8;Q8IWV8-3	.;UBR2_HUMAN;.	Q	560;560;64	ENSP00000361990:K560Q;ENSP00000361992:K560Q;ENSP00000361974:K64Q	ENSP00000361974:K64Q	K	+	1	0	UBR2	42712730	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.211000	0.58507	2.147000	0.66899	0.528000	0.53228	AAA		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
UBR2	23304	broad.mit.edu	37	6	42631104	42631104	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:42631104C>T	ENST00000372899.1	+	32	3903	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	UBR2_ENST00000372901.1_Silent_p.C1215C|RNU6-890P_ENST00000384121.1_RNA|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1215					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C1215C(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTGTGAATGCTTGAGTAATA	0.383																																					p.C1215C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3645T	6						.						198.0	175.0	183.0					6																	42631104		2203	4300	6503	42739082	SO:0001819	synonymous_variant	23304	exon32			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3645C>T	6.37:g.42631104C>T			42739082	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	CCDS4870.1																																																																																				0.383	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
UBR2	23304	broad.mit.edu	37	6	42633976	42633976	+	Missense_Mutation	SNP	C	C	T	rs376653677		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:42633976C>T	ENST00000372899.1	+	34	4132	c.3874C>T	c.(3874-3876)Cgt>Tgt	p.R1292C	UBR2_ENST00000372901.1_Missense_Mutation_p.R1292C|RNU6-890P_ENST00000384121.1_RNA|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1292					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1292C(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GCCTGATTTTCGTCCTAAGTG	0.348																																					p.R1292C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3874T	6						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	90.0	90.0		3874	4.4	1.0	6		90	0,8600		0,0,4300	no	missense	UBR2	NM_015255.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1292/1756	42633976	1,13005	2203	4300	6503	42741954	SO:0001583	missense	23304	exon34			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3874C>T	6.37:g.42633976C>T	ENSP00000361990:p.Arg1292Cys		42741954	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568348	0.45798	2.27E-4	0.0	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.54866	0.55;0.55	5.33	4.45	0.53987	.	0.987812	0.08287	N	0.969039	T	0.25865	0.0630	L	0.29908	0.895	0.80722	D	1	P;P	0.43633	0.813;0.752	B;B	0.37650	0.255;0.092	T	0.07693	-1.0759	10	0.59425	D	0.04	-30.5993	9.3794	0.38304	0.1521:0.7689:0.0:0.079	.	1292;1292	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	C	1292	ENSP00000361990:R1292C;ENSP00000361992:R1292C	ENSP00000361990:R1292C	R	+	1	0	UBR2	42741954	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	1.655000	0.37345	1.341000	0.45600	0.585000	0.79938	CGT		0.348	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
SRF	6722	broad.mit.edu	37	6	43146043	43146043	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:43146043G>A	ENST00000265354.4	+	5	1532	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T	SRF_ENST00000457278.2_Missense_Mutation_p.A188T	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	392					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|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 transcription factor binding transcription factor activity (GO:0001076)|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)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)	p.A392T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACGCTGCCCGCCACCATCAT	0.612																																					p.A392T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1174A	6						.						73.0	52.0	59.0					6																	43146043		2203	4300	6503	43254021	SO:0001583	missense	6722	exon5			J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1174G>A	6.37:g.43146043G>A	ENSP00000265354:p.Ala392Thr		43254021	NM_003131	Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813485	0.70912	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.84660	-1.88	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.87244	0.2268	10	0.56958	D	0.05	-7.1005	19.7959	0.96481	0.0:0.0:1.0:0.0	.	392	P11831	SRF_HUMAN	T	392;188	ENSP00000265354:A392T	ENSP00000265354:A392T	A	+	1	0	SRF	43254021	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.127000	0.77210	2.745000	0.94114	0.561000	0.74099	GCC		0.612	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131	
CUL9	23113	broad.mit.edu	37	6	43166400	43166400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:43166400C>T	ENST00000252050.4	+	12	2941	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	CUL9_ENST00000354495.3_Nonsense_Mutation_p.R843*|CUL9_ENST00000372647.2_Nonsense_Mutation_p.R953*	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	953					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.R953*(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						GCTACTGATTCGATCCCTGGT	0.597																																					p.R953X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2857T	6						.						120.0	123.0	122.0					6																	43166400		2203	4300	6503	43274378	SO:0001587	stop_gained	23113	exon12			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.2857C>T	6.37:g.43166400C>T	ENSP00000252050:p.Arg953*		43274378	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Nonsense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	39	7.886499	0.98542	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.28	4.39	0.52855	.	0.599918	0.16115	N	0.228885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8043	8.8222	0.35032	0.1699:0.6659:0.1641:0.0	.	.	.	.	X	953;843;953	.	ENSP00000252050:R953X	R	+	1	2	CUL9	43274378	0.183000	0.23186	0.599000	0.28851	0.975000	0.68041	2.160000	0.42348	1.177000	0.42855	0.555000	0.69702	CGA		0.597	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
ABCC10	89845	broad.mit.edu	37	6	43403514	43403514	+	Missense_Mutation	SNP	G	G	A	rs368489601		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:43403514G>A	ENST00000372530.4	+	5	1849	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.R502Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	545	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R502Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCACTGGTGCGAATGCTCATT	0.557																																					p.R545Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1634A	6						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	101.0	89.0	93.0		1505,1634	1.5	0.6	6		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABCC10	NM_033450.2,NM_001198934.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	502/1465,545/1493	43403514	1,13005	2203	4300	6503	43511492	SO:0001583	missense	89845	exon5			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1634G>A	6.37:g.43403514G>A	ENSP00000361608:p.Arg545Gln		43511492	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175486	0.38413	0.0	1.16E-4	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.89415	-2.51;-2.51;-2.51	5.3	1.51	0.23008	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.250759	0.39615	N	0.001316	T	0.49795	0.1578	N	0.01352	-0.895	0.27678	N	0.946543	B;B	0.33755	0.03;0.424	B;B	0.28465	0.012;0.09	T	0.54227	-0.8325	10	0.54805	T	0.06	-43.4071	10.1524	0.42803	0.2688:0.0:0.7312:0.0	.	502;545	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	101;545;502	ENSP00000361593:R101Q;ENSP00000361608:R545Q;ENSP00000244533:R502Q	ENSP00000244533:R502Q	R	+	2	0	ABCC10	43511492	1.000000	0.71417	0.613000	0.29037	0.766000	0.43426	4.133000	0.57983	-0.003000	0.14444	0.462000	0.41574	CGA		0.557	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
GTPBP2	54676	broad.mit.edu	37	6	43592698	43592698	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:43592698G>C	ENST00000307126.5	-	6	806	c.807C>G	c.(805-807)caC>caG	p.H269Q	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.H181Q	NM_019096.3	NP_061969.3			GTP binding protein 2									p.H269Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGATGGTGGTGTGTAGGTACT	0.557																																					p.H269Q	GBM(116;405 1620 28302 32150 44768)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C807G	6						.						235.0	182.0	200.0					6																	43592698		2203	4300	6503	43700676	SO:0001583	missense	54676	exon6			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.807C>G	6.37:g.43592698G>C	ENSP00000303997:p.His269Gln		43700676	NM_019096		Missense_Mutation	SNP	ENST00000307126.5	37	CCDS4903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.61|12.61	1.988447|1.988447	0.35036|0.35036	.|.	.|.	ENSG00000172432|ENSG00000172432	ENST00000307126;ENST00000307114|ENST00000442748	T;T|.	0.69806|.	-0.43;-0.43|.	5.22|5.22	4.34|4.34	0.51931|0.51931	Protein synthesis factor, GTP-binding (1);|.	0.151610|.	0.53938|.	D|.	0.000050|.	T|T	0.28764|0.28764	0.0713|0.0713	L|L	0.27053|0.27053	0.805|0.805	0.39477|0.39477	D|D	0.967825|0.967825	B;B|.	0.15141|.	0.012;0.0|.	B;B|.	0.17979|.	0.02;0.0|.	T|T	0.08597|0.08597	-1.0714|-1.0714	10|5	0.87932|.	D|.	0|.	-14.8954|-14.8954	7.728|7.728	0.28771|0.28771	0.0844:0.0:0.6542:0.2615|0.0844:0.0:0.6542:0.2615	.|.	261;269|.	Q9BX10-4;Q9BX10|.	.;GTPB2_HUMAN|.	Q|R	269;181|235	ENSP00000303997:H269Q;ENSP00000304893:H181Q|.	ENSP00000304893:H181Q|.	H|T	-|-	3|2	2|0	GTPBP2|GTPBP2	43700676|43700676	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.713000|0.713000	0.25794|0.25794	2.418000|2.418000	0.82041|0.82041	0.555000|0.555000	0.69702|0.69702	CAC|ACA		0.557	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1		
HSP90AB1	3326	broad.mit.edu	37	6	44217155	44217155	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:44217155G>A	ENST00000371554.1	+	3	403	c.189G>A	c.(187-189)tcG>tcA	p.S63S	HSP90AB1_ENST00000353801.3_Silent_p.S63S|HSP90AB1_ENST00000371646.5_Silent_p.S63S			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	63					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.S63S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGACCCTTCGAAGTTGGACA	0.473																																					p.S63S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G189A	6						.						88.0	79.0	82.0					6																	44217155		2203	4300	6503	44325133	SO:0001819	synonymous_variant	3326	exon3			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.189G>A	6.37:g.44217155G>A			44325133	NM_007355	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	CCDS4909.1																																																																																				0.473	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	
AARS2	57505	broad.mit.edu	37	6	44271042	44271042	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:44271042C>A	ENST00000244571.4	-	15	2128	c.2126G>T	c.(2125-2127)gGc>gTc	p.G709V	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.G709V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAGCGCAGGCCAGGGACCTG	0.627																																					p.G709V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2126T	6						.						39.0	40.0	39.0					6																	44271042		2203	4300	6503	44379020	SO:0001583	missense	57505	exon15			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2126G>T	6.37:g.44271042C>A	ENSP00000244571:p.Gly709Val		44379020	NM_020745		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667394	0.67814	.	.	ENSG00000124608	ENST00000244571	T	0.66460	-0.21	6.17	6.17	0.99709	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.87099	0.6093	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89380	0.3681	10	0.87932	D	0	-28.7786	19.8676	0.96824	0.0:1.0:0.0:0.0	.	709	Q5JTZ9	SYAM_HUMAN	V	709	ENSP00000244571:G709V	ENSP00000244571:G709V	G	-	2	0	AARS2	44379020	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	4.966000	0.63715	2.941000	0.99782	0.655000	0.94253	GGC		0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	
AARS2	57505	broad.mit.edu	37	6	44272028	44272028	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:44272028T>C	ENST00000244571.4	-	14	1899	c.1897A>G	c.(1897-1899)Acg>Gcg	p.T633A	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.T633A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGTGGCCGTATGCTTCGCC	0.627											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T633A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1897G	6						.						68.0	69.0	69.0					6																	44272028		2203	4300	6503	44380006	SO:0001583	missense	57505	exon14			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1897A>G	6.37:g.44272028T>C	ENSP00000244571:p.Thr633Ala	922	44380006	NM_020745		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899207	0.91962	.	.	ENSG00000124608	ENST00000244571	T	0.74106	-0.81	5.74	5.74	0.90152	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.101115	0.64402	D	0.000002	D	0.89694	0.6789	H	0.97131	3.945	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93143	0.6543	10	0.87932	D	0	-15.2101	16.0293	0.80567	0.0:0.0:0.0:1.0	.	633	Q5JTZ9	SYAM_HUMAN	A	633	ENSP00000244571:T633A	ENSP00000244571:T633A	T	-	1	0	AARS2	44380006	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.080000	0.71299	2.188000	0.69820	0.496000	0.49642	ACG		0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	
CDC5L	988	broad.mit.edu	37	6	44414375	44414375	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:44414375A>G	ENST00000371477.3	+	16	2635	c.2336A>G	c.(2335-2337)gAa>gGa	p.E779G		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	779	Interaction with PLRG1.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.E779G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGACAACAAGAAAGAGAAAAG	0.294																																					p.E779G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2336G	6						.						106.0	113.0	111.0					6																	44414375		2203	4300	6503	44522353	SO:0001583	missense	988	exon16			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2336A>G	6.37:g.44414375A>G	ENSP00000360532:p.Glu779Gly		44522353	NM_001253	Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.866052	0.71949	.	.	ENSG00000096401	ENST00000371477	T	0.48522	0.81	6.01	6.01	0.97437	.	0.225469	0.52532	D	0.000067	T	0.37128	0.0992	M	0.72479	2.2	0.80722	D	1	P	0.41313	0.745	B	0.36134	0.218	T	0.44997	-0.9291	10	0.52906	T	0.07	-10.0754	16.5285	0.84344	1.0:0.0:0.0:0.0	.	779	Q99459	CDC5L_HUMAN	G	779	ENSP00000360532:E779G	ENSP00000360532:E779G	E	+	2	0	CDC5L	44522353	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.065000	0.89485	2.307000	0.77673	0.528000	0.53228	GAA		0.294	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1		
SUPT3H	8464	broad.mit.edu	37	6	44929547	44929547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:44929547G>A	ENST00000371459.1	-	7	688	c.523C>T	c.(523-525)Cga>Tga	p.R175*	SUPT3H_ENST00000371461.2_Nonsense_Mutation_p.R186*|SUPT3H_ENST00000306867.5_Nonsense_Mutation_p.R175*|SUPT3H_ENST00000371460.1_Nonsense_Mutation_p.R186*	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	257					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.R186*(2)|p.R175*(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TCCATAATTCGAGTTTGTCTT	0.274																																					p.R186X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C556T	6						.						73.0	77.0	75.0					6																	44929547		2203	4292	6495	45037525	SO:0001587	stop_gained	8464	exon9			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.523C>T	6.37:g.44929547G>A	ENSP00000360514:p.Arg175*		45037525	NM_181356	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Nonsense_Mutation	SNP	ENST00000371459.1	37	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512697	0.96402	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	.	.	.	5.69	4.8	0.61643	.	0.060228	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.811	0.78565	0.0:0.0:0.8629:0.1371	.	.	.	.	X	186;175;175;186	.	ENSP00000306718:R175X	R	-	1	2	SUPT3H	45037525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.825000	0.62708	1.351000	0.45789	0.585000	0.79938	CGA		0.274	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356	
RUNX2	860	broad.mit.edu	37	6	45514854	45514854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:45514854C>T	ENST00000371438.1	+	8	1736	c.1378C>T	c.(1378-1380)Ccg>Tcg	p.P460S	RUNX2_ENST00000371436.6_Missense_Mutation_p.P438S|RUNX2_ENST00000541979.1_Missense_Mutation_p.P506S|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.P528S|RUNX2_ENST00000465038.2_Missense_Mutation_p.P460S|RUNX2_ENST00000359524.5_Missense_Mutation_p.P446S|RUNX2_ENST00000371432.3_Missense_Mutation_p.P424S	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	460	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P460S(1)|p.P528S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCCCATGGTGCCGGGGGGAGA	0.547																																					p.P446S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1336T	6						.						85.0	77.0	80.0					6																	45514854		2203	4300	6503	45622832	SO:0001583	missense	860	exon7			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1378C>T	6.37:g.45514854C>T	ENSP00000360493:p.Pro460Ser		45622832	NM_004348	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297475	0.60086	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.77	5.77	0.91146	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	L	0.40543	1.245	0.80722	D	1	D;P;P	0.58970	0.984;0.623;0.504	P;B;B	0.53549	0.729;0.401;0.227	T	0.01212	-1.1417	10	0.36615	T	0.2	-7.9059	20.3627	0.98863	0.0:1.0:0.0:0.0	.	506;460;446	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	S	460;528;506;460;438;446;424	ENSP00000420707:P460S;ENSP00000319087:P528S;ENSP00000446290:P506S;ENSP00000360493:P460S;ENSP00000360491:P438S;ENSP00000352514:P446S;ENSP00000360486:P424S	ENSP00000319087:P528S	P	+	1	0	RUNX2	45622832	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.717000	0.68446	2.885000	0.99019	0.655000	0.94253	CCG		0.547	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
TDRD6	221400	broad.mit.edu	37	6	46661636	46661636	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:46661636C>A	ENST00000316081.6	+	1	5771	c.5771C>A	c.(5770-5772)tCt>tAt	p.S1924Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.S1924Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1924					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.S1924Y(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)			GATCCTTTGTCTTTAGGAGTT	0.448																																					p.S1924Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5771A	6						.						129.0	124.0	126.0					6																	46661636		2203	4300	6503	46769595	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.5771C>A	6.37:g.46661636C>A	ENSP00000346065:p.Ser1924Tyr		46769595	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450914	0.43531	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.20200	2.09;2.11	4.84	3.04	0.35103	.	0.116870	0.39274	N	0.001410	T	0.14013	0.0339	L	0.54323	1.7	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.51016	0.656;0.454	T	0.03597	-1.1021	10	0.87932	D	0	-7.4086	8.2477	0.31698	0.0:0.7554:0.1576:0.087	.	1924;1924	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1924	ENSP00000443299:S1924Y;ENSP00000346065:S1924Y	ENSP00000346065:S1924Y	S	+	2	0	TDRD6	46769595	0.001000	0.12720	0.072000	0.20136	0.103000	0.19146	1.148000	0.31614	0.706000	0.31912	0.563000	0.77884	TCT		0.448	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
MEP1A	4224	broad.mit.edu	37	6	46800870	46800870	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:46800870C>T	ENST00000230588.4	+	11	1213	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	402	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R402C(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACAGAAGTTTCGCTACCTTTT	0.502																																					p.R402C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1204T	6						.																																			46908829	SO:0001583	missense	4224	exon11				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1204C>T	6.37:g.46800870C>T	ENSP00000230588:p.Arg402Cys		46908829	NM_005588	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446863	0.84101	.	.	ENSG00000112818	ENST00000230588	T	0.02345	4.33	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00569	-1.1666	10	0.87932	D	0	-21.1973	15.1975	0.73104	0.1414:0.8586:0.0:0.0	.	430;402	B7ZL91;Q16819	.;MEP1A_HUMAN	C	402	ENSP00000230588:R402C	ENSP00000230588:R402C	R	+	1	0	MEP1A	46908829	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.970000	0.56824	2.619000	0.88677	0.650000	0.86243	CGC		0.502	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	
GPR116	221395	broad.mit.edu	37	6	46834663	46834663	+	Splice_Site	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:46834663A>C	ENST00000283296.7	-	13	2121	c.1833T>G	c.(1831-1833)gcT>gcG	p.A611A	GPR116_ENST00000456426.2_Splice_Site_p.A469A|GPR116_ENST00000362015.4_Splice_Site_p.A611A|GPR116_ENST00000265417.7_Splice_Site_p.A611A|GPR116_ENST00000545669.1_Splice_Site_p.A40A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	611					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.A611A(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)			GCATCTTACCAGCAGGAAGGG	0.398																																					p.A611A	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1833G	6						.						89.0	79.0	83.0					6																	46834663		2203	4300	6503	46942622	SO:0001630	splice_region_variant	221395	exon13			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.1834+1T>G	6.37:g.46834663A>C			46942622	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	CCDS4919.1																																																																																				0.398	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	Silent
PTCHD4	442213	broad.mit.edu	37	6	47847331	47847331	+	Missense_Mutation	SNP	G	G	A	rs371091755		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:47847331G>A	ENST00000339488.4	-	3	1282	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	417						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.R417C(1)									ACAGGTTTGCGATCCAGGTAT	0.507																																					p.R417C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1249T	6						.	G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	107.0	95.0	99.0		1249	5.0	1.0	6		99	0,8600		0,0,4300	no	missense	C6orf138	NM_001013732.3	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	417/847	47847331	2,13004	2203	4300	6503	47955290	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.1249C>T	6.37:g.47847331G>A	ENSP00000341914:p.Arg417Cys		47955290	NM_001013732	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583617	0.46006	4.54E-4	0.0	ENSG00000244694	ENST00000339488	D	0.92699	-3.09	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.93121	0.6525	10	0.56958	D	0.05	.	12.1529	0.54059	0.0:0.0:0.7002:0.2997	.	417	Q6ZW05	CF138_HUMAN	C	417	ENSP00000341914:R417C	ENSP00000341914:R417C	R	-	1	0	C6orf138	47955290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.034000	0.49751	2.338000	0.79540	0.650000	0.86243	CGC		0.507	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
MUT	4594	broad.mit.edu	37	6	49427119	49427119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:49427119C>A	ENST00000274813.3	-	2	188	c.61G>T	c.(61-63)Gaa>Taa	p.E21*		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	21					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|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)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.E21*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGATGATTCTTTTACCTGC	0.463																																					p.E21X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G61T	6						.						93.0	95.0	94.0					6																	49427119		2203	4300	6503	49535078	SO:0001587	stop_gained	4594	exon2				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.61G>T	6.37:g.49427119C>A	ENSP00000274813:p.Glu21*		49535078	NM_000255	A8K953|Q5SYZ3|Q96B11|Q9UD64	Nonsense_Mutation	SNP	ENST00000274813.3	37	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840139	0.91117	.	.	ENSG00000146085	ENST00000274813	.	.	.	5.38	1.17	0.20885	.	1.235210	0.05430	N	0.545720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-7.4378	11.2661	0.49112	0.1136:0.5869:0.2995:0.0	.	.	.	.	X	21	.	ENSP00000274813:E21X	E	-	1	0	MUT	49535078	0.000000	0.05858	0.001000	0.08648	0.956000	0.61745	-0.091000	0.11146	0.292000	0.22492	0.655000	0.94253	GAA		0.463	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1		
RHAG	6005	broad.mit.edu	37	6	49585890	49585890	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:49585890G>T	ENST00000371175.4	-	3	409	c.383C>A	c.(382-384)tCt>tAt	p.S128Y	RHAG_ENST00000229810.7_Missense_Mutation_p.S128Y	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	128					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.S128Y(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGCTCCAAAAGATATCAGAAC	0.398																																					p.S128Y	Ovarian(176;476 2003 7720 43408 44749)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383A	6						.						89.0	88.0	88.0					6																	49585890		2203	4300	6503	49693849	SO:0001583	missense	6005	exon3				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.383C>A	6.37:g.49585890G>T	ENSP00000360217:p.Ser128Tyr		49693849	NM_000324	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972505	0.92919	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.24723	1.84;1.84	5.67	5.67	0.87782	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.72640	-0.4232	10	0.87932	D	0	-26.147	19.1191	0.93355	0.0:0.0:1.0:0.0	.	128;128;128	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	Y	128	ENSP00000360217:S128Y;ENSP00000229810:S128Y	ENSP00000229810:S128Y	S	-	2	0	RHAG	49693849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	TCT		0.398	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		
PGK2	5232	broad.mit.edu	37	6	49754533	49754533	+	Missense_Mutation	SNP	C	C	T	rs569887019	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:49754533C>T	ENST00000304801.3	-	1	520	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	123					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.R123H(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CACATGAAAGCGCAGGTTCTC	0.512													C|||	9	0.00179712	0.0	0.0	5008	,	,		20259	0.0		0.0	False		,,,				2504	0.0092				p.R123H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	6						.						102.0	101.0	101.0					6																	49754533		2203	4300	6503	49862492	SO:0001583	missense	5232	exon1			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.368G>A	6.37:g.49754533C>T	ENSP00000305995:p.Arg123His		49862492	NM_138733	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983370	0.74474	.	.	ENSG00000170950	ENST00000304801	D	0.96136	-3.92	4.09	4.09	0.47781	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	H	0.99916	4.945	0.80722	D	1	D	0.64830	0.994	D	0.63597	0.916	D	0.98411	1.0572	10	0.72032	D	0.01	-11.3049	14.5839	0.68310	0.0:1.0:0.0:0.0	.	123	P07205	PGK2_HUMAN	H	123	ENSP00000305995:R123H	ENSP00000305995:R123H	R	-	2	0	PGK2	49862492	1.000000	0.71417	0.998000	0.56505	0.750000	0.42670	7.066000	0.76734	2.562000	0.86427	0.585000	0.79938	CGC		0.512	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
PGK2	5232	broad.mit.edu	37	6	49754896	49754896	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:49754896G>T	ENST00000304801.3	-	1	157	c.5C>A	c.(4-6)tCt>tAt	p.S2Y		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	2					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.S2Y(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTTAGAAAGAGACATCTTGAC	0.433																																					p.S2Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5A	6						.						89.0	86.0	87.0					6																	49754896		2203	4300	6503	49862855	SO:0001583	missense	5232	exon1			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.5C>A	6.37:g.49754896G>T	ENSP00000305995:p.Ser2Tyr		49862855	NM_138733	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247935	0.39697	.	.	ENSG00000170950	ENST00000304801	D	0.92699	-3.09	4.9	4.01	0.46588	.	0.172921	0.52532	D	0.000068	D	0.91533	0.7326	M	0.88704	2.975	0.40990	D	0.984849	P	0.43094	0.799	B	0.43575	0.424	D	0.92631	0.6116	10	0.87932	D	0	-7.2908	12.8889	0.58058	0.0:0.0:0.8355:0.1644	.	2	P07205	PGK2_HUMAN	Y	2	ENSP00000305995:S2Y	ENSP00000305995:S2Y	S	-	2	0	PGK2	49862855	1.000000	0.71417	0.997000	0.53966	0.696000	0.40369	6.812000	0.75226	1.329000	0.45376	0.650000	0.86243	TCT		0.433	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
TFAP2D	83741	broad.mit.edu	37	6	50718942	50718942	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:50718942C>T	ENST00000008391.3	+	7	1272	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.F348F(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTAAAGAATTCCAAGACCTCT	0.348																																					p.F348F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1044T	6						.						76.0	72.0	73.0					6																	50718942		2203	4299	6502	50826901	SO:0001819	synonymous_variant	83741	exon7			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1044C>T	6.37:g.50718942C>T			50826901	NM_172238		Silent	SNP	ENST00000008391.3	37	CCDS4933.1																																																																																				0.348	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
TFAP2B	7021	broad.mit.edu	37	6	50805719	50805719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:50805719C>T	ENST00000393655.3	+	5	1022	c.853C>T	c.(853-855)Cga>Tga	p.R285*	TFAP2B_ENST00000263046.4_Nonsense_Mutation_p.R294*	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	285			R -> Q (in CHAR). {ECO:0000269|PubMed:11505339}.		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.R285*(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)					GAGATCTTTGCGAGAAAGGCT	0.433																																					p.R285X	Pancreas(116;1373 2332 5475 10752)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C853T	6						.						89.0	97.0	95.0					6																	50805719		2203	4300	6503	50913678	SO:0001587	stop_gained	7021	exon5			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.853C>T	6.37:g.50805719C>T	ENSP00000377265:p.Arg285*		50913678	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Nonsense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	36	5.803327	0.96960	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	.	.	.	5.63	1.32	0.21799	.	0.113678	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6191	17.3105	0.87208	0.7429:0.2571:0.0:0.0	.	.	.	.	X	285;294	.	ENSP00000263046:R294X	R	+	1	2	TFAP2B	50913678	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.970000	0.29383	-0.009000	0.14296	0.561000	0.74099	CGA		0.433	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
PKHD1	5314	broad.mit.edu	37	6	51882351	51882351	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:51882351A>G	ENST00000371117.3	-	34	5732	c.5457T>C	c.(5455-5457)tgT>tgC	p.C1819C	PKHD1_ENST00000340994.4_Silent_p.C1819C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1819					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.C1819C(2)		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)					CTGTCAAATCACACTGCACAT	0.522																																					p.C1819C												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.T5457C	6						.						180.0	155.0	164.0					6																	51882351		2203	4300	6503	51990310	SO:0001819	synonymous_variant	5314	exon34			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.5457T>C	6.37:g.51882351A>G			51990310	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51890800	51890800	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:51890800C>T	ENST00000371117.3	-	32	4083	c.3808G>A	c.(3808-3810)Gag>Aag	p.E1270K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E1270K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1270	IPT/TIG 7.				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.E1270K(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)					GCCCAGACCTCCACGGCAGCT	0.587																																					p.E1270K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3808A	6						.						58.0	54.0	55.0					6																	51890800		2203	4300	6503	51998759	SO:0001583	missense	5314	exon32			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.3808G>A	6.37:g.51890800C>T	ENSP00000360158:p.Glu1270Lys		51998759	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	8.814	0.936036	0.18206	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87103	-2.01;-2.21	5.87	4.09	0.47781	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.827995	0.11273	N	0.581296	T	0.80341	0.4605	M	0.82056	2.57	0.09310	N	1	P;P	0.35793	0.465;0.521	B;B	0.40825	0.23;0.341	T	0.73017	-0.4115	10	0.39692	T	0.17	.	5.6518	0.17620	0.0:0.6275:0.1882:0.1843	.	1270;1270	P08F94-2;P08F94	.;PKHD1_HUMAN	K	1270	ENSP00000360158:E1270K;ENSP00000341097:E1270K	ENSP00000341097:E1270K	E	-	1	0	PKHD1	51998759	0.734000	0.28142	0.864000	0.33941	0.071000	0.16799	1.220000	0.32491	0.814000	0.34374	0.655000	0.94253	GAG		0.587	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51893142	51893142	+	Missense_Mutation	SNP	C	C	A	rs569065606		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:51893142C>A	ENST00000371117.3	-	30	3647	c.3372G>T	c.(3370-3372)gaG>gaT	p.E1124D	PKHD1_ENST00000340994.4_Missense_Mutation_p.E1124D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1124	IPT/TIG 6; atypical.				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.E1124D(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)					TGACCAGGGTCTCACCGCCTG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		17459	0.0		0.0	False		,,,				2504	0.001				p.E1124D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3372T	6						.						59.0	63.0	61.0					6																	51893142		2203	4300	6503	52001101	SO:0001583	missense	5314	exon30			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.3372G>T	6.37:g.51893142C>A	ENSP00000360158:p.Glu1124Asp		52001101	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	3.973	-0.007953	0.07773	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87334	-2.03;-2.24	5.7	1.81	0.25067	Cell surface receptor IPT/TIG (1);	0.643081	0.16481	N	0.212571	T	0.57344	0.2047	L	0.36672	1.1	0.21325	N	0.999725	B;B	0.13145	0.007;0.003	B;B	0.13407	0.009;0.002	T	0.44787	-0.9305	10	0.14252	T	0.57	.	3.8466	0.08937	0.1274:0.59:0.1386:0.144	.	1124;1124	P08F94-2;P08F94	.;PKHD1_HUMAN	D	1124	ENSP00000360158:E1124D;ENSP00000341097:E1124D	ENSP00000341097:E1124D	E	-	3	2	PKHD1	52001101	0.050000	0.20438	0.135000	0.22099	0.107000	0.19398	0.206000	0.17375	0.028000	0.15324	-0.137000	0.14449	GAG		0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
FBXO9	26268	broad.mit.edu	37	6	52962605	52962605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:52962605G>A	ENST00000244426.6	+	12	1493	c.1321G>A	c.(1321-1323)Gct>Act	p.A441T	FBXO9_ENST00000323557.7_Missense_Mutation_p.A431T|FBXO9_ENST00000370939.3_Missense_Mutation_p.A397T	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	441					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.A441T(1)		kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					GAGCTACACAGCTTTCTCAGA	0.418																																					p.A441T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1321A	6						.						72.0	70.0	71.0					6																	52962605		1882	4122	6004	53070564	SO:0001583	missense	26268	exon12			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.1321G>A	6.37:g.52962605G>A	ENSP00000244426:p.Ala441Thr		53070564	NM_012347	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679005	0.88542	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.78003	-1.13;-1.13;-1.14	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	L	0.55103	1.725	0.80722	D	1	P;P;D	0.57257	0.82;0.73;0.979	B;B;P	0.53006	0.323;0.204;0.715	T	0.75059	-0.3451	10	0.34782	T	0.22	-17.405	19.9295	0.97114	0.0:0.0:1.0:0.0	.	431;548;441	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	T	397;431;441	ENSP00000359977:A397T;ENSP00000326968:A431T;ENSP00000244426:A441T	ENSP00000244426:A441T	A	+	1	0	FBXO9	53070564	1.000000	0.71417	0.173000	0.22940	0.997000	0.91878	7.645000	0.83430	2.695000	0.91970	0.655000	0.94253	GCT		0.418	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3		
GCLC	2729	broad.mit.edu	37	6	53363681	53363681	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:53363681T>G	ENST00000229416.6	-	16	2270	c.1787A>C	c.(1786-1788)gAa>gCa	p.E596A		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	596					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.E596A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	ATAATTCATTTCATCAGTTAT	0.398																																					p.E596A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1787C	6						.						146.0	132.0	137.0					6																	53363681		2203	4300	6503	53471640	SO:0001583	missense	2729	exon16			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1787A>C	6.37:g.53363681T>G	ENSP00000229416:p.Glu596Ala		53471640	NM_001498	Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468351	0.43839	.	.	ENSG00000001084	ENST00000229416	T	0.74421	-0.84	5.68	3.24	0.37175	.	0.310470	0.40908	D	0.000992	T	0.41604	0.1166	N	0.25890	0.77	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30001	-0.9993	10	0.38643	T	0.18	.	8.578	0.33609	0.0:0.0674:0.1307:0.8019	.	596	P48506	GSH1_HUMAN	A	596	ENSP00000229416:E596A	ENSP00000229416:E596A	E	-	2	0	GCLC	53471640	1.000000	0.71417	0.986000	0.45419	0.970000	0.65996	5.136000	0.64783	0.493000	0.27837	0.477000	0.44152	GAA		0.398	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2		
LRRC1	55227	broad.mit.edu	37	6	53707020	53707020	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:53707020G>A	ENST00000370888.1	+	2	549	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	LRRC1_ENST00000370882.1_Missense_Mutation_p.R91Q	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	91						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R91Q(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GATGTGTCTCGAAATGGTAAG	0.423																																					p.R91Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G272A	6						.						107.0	111.0	110.0					6																	53707020		2203	4300	6503	53814979	SO:0001583	missense	55227	exon2			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.272G>A	6.37:g.53707020G>A	ENSP00000359925:p.Arg91Gln		53814979	NM_018214	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	33	5.283418	0.95489	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.57273	0.41;0.41	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	L	0.31294	0.92	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59053	-0.7526	10	0.56958	D	0.05	.	18.8619	0.92276	0.0:0.0:1.0:0.0	.	91	Q9BTT6	LRRC1_HUMAN	Q	91	ENSP00000359925:R91Q;ENSP00000359919:R91Q	ENSP00000359919:R91Q	R	+	2	0	LRRC1	53814979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.809000	0.99208	2.761000	0.94854	0.655000	0.94253	CGA		0.423	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	
LRRC1	55227	broad.mit.edu	37	6	53761655	53761655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:53761655G>T	ENST00000370888.1	+	6	809	c.532G>T	c.(532-534)Gaa>Taa	p.E178*		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	178						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E178*(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AAGACTAGAAGAACTTGATTT	0.313																																					p.E178X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G532T	6						.						59.0	66.0	64.0					6																	53761655		2199	4299	6498	53869614	SO:0001587	stop_gained	55227	exon6			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.532G>T	6.37:g.53761655G>T	ENSP00000359925:p.Glu178*		53869614	NM_018214	Q5TGN3|Q9HAC0|Q9NVF1	Nonsense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	42	9.599968	0.99216	.	.	ENSG00000137269	ENST00000370888	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.4155	0.90568	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000359925:E178X	E	+	1	0	LRRC1	53869614	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.589000	0.87451	0.655000	0.94253	GAA		0.313	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	
COL21A1	81578	broad.mit.edu	37	6	55935548	55935548	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:55935548G>A	ENST00000244728.5	-	21	2411	c.2014C>T	c.(2014-2016)Ctc>Ttc	p.L672F	COL21A1_ENST00000370819.1_Missense_Mutation_p.L669F|COL21A1_ENST00000535941.1_Missense_Mutation_p.L672F|COL21A1_ENST00000370808.2_Missense_Mutation_p.L72F|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	672					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L672F(1)		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)			ATTACCTTGAGCCCAGAAGCC	0.318																																					p.L672F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2014T	6						.						42.0	42.0	42.0					6																	55935548		1803	4075	5878	56043507	SO:0001583	missense	81578	exon21			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.2014C>T	6.37:g.55935548G>A	ENSP00000244728:p.Leu672Phe		56043507	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	5.782	0.328684	0.10956	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	4.74	-0.901	0.10540	.	1.491950	0.04444	N	0.371333	T	0.81626	0.4862	L	0.56769	1.78	0.09310	N	1	B;B;P	0.45634	0.0;0.002;0.863	B;B;B	0.43990	0.002;0.003;0.438	T	0.72157	-0.4375	10	0.12430	T	0.62	.	0.7007	0.00907	0.1834:0.201:0.2453:0.3704	.	72;672;672	Q96P44-2;B7ZLK3;Q96P44	.;.;COLA1_HUMAN	F	672;669;672;669;72	ENSP00000244728:L672F;ENSP00000359855:L669F;ENSP00000444384:L672F;ENSP00000359844:L72F	ENSP00000244728:L672F	L	-	1	0	COL21A1	56043507	0.695000	0.27747	0.479000	0.27329	0.588000	0.36517	0.395000	0.20850	0.070000	0.16634	0.467000	0.42956	CTC		0.318	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
COL21A1	81578	broad.mit.edu	37	6	56035591	56035591	+	Missense_Mutation	SNP	A	A	C	rs531869048		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56035591A>C	ENST00000244728.5	-	5	1279	c.882T>G	c.(880-882)atT>atG	p.I294M	COL21A1_ENST00000370819.1_Missense_Mutation_p.I294M|COL21A1_ENST00000535941.1_Missense_Mutation_p.I294M	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	294	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.I294M(1)		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)			ATAAATCCCAAATTTTCTTGA	0.338													A|||	1	0.000199681	0.0	0.0	5008	,	,		18265	0.001		0.0	False		,,,				2504	0.0				p.I294M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T882G	6						.						68.0	60.0	63.0					6																	56035591		1828	4076	5904	56143550	SO:0001583	missense	81578	exon5			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.882T>G	6.37:g.56035591A>C	ENSP00000244728:p.Ile294Met		56143550	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	A	2.732	-0.264204	0.05754	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.14022	2.54;2.54;2.54	4.66	-2.31	0.06765	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.869685	0.09751	N	0.760656	T	0.01489	0.0048	N	0.02539	-0.55	0.80722	D	1	B;B	0.13594	0.006;0.008	B;B	0.10450	0.005;0.002	T	0.48917	-0.8992	10	0.44086	T	0.13	.	6.8387	0.23951	0.2069:0.2349:0.0:0.5582	.	294;294	Q96P44-3;Q96P44	.;COLA1_HUMAN	M	294	ENSP00000244728:I294M;ENSP00000359855:I294M;ENSP00000444384:I294M	ENSP00000244728:I294M	I	-	3	3	COL21A1	56143550	0.150000	0.22732	0.787000	0.31911	0.801000	0.45260	-0.486000	0.06513	-1.474000	0.01879	-2.753000	0.00124	ATT		0.338	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu	37	6	56354329	56354329	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56354329T>G	ENST00000361203.3	-	81	19883	c.19876A>C	c.(19876-19878)Aat>Cat	p.N6626H	DST_ENST00000446842.2_Missense_Mutation_p.N6411H|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.N4649H|DST_ENST00000244364.6_Missense_Mutation_p.N4323H|DST_ENST00000370754.5_Missense_Mutation_p.N6915H|DST_ENST00000370769.4_Missense_Mutation_p.N6737H|DST_ENST00000370788.2_Missense_Mutation_p.N4540H			Q03001	DYST_HUMAN	dystonin	6622					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.N6737H(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)			TCTGGATCATTTGCGATTTCC	0.348																																					p.N4323H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12967C	6						.						240.0	212.0	221.0					6																	56354329		1837	4096	5933	56462288	SO:0001583	missense	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.19876A>C	6.37:g.56354329T>G	ENSP00000354508:p.Asn6626His		56462288	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	14.70	2.613668	0.46631	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000028	T	0.61388	0.2343	M	0.71581	2.175	0.31522	N	0.662288	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.984;1.0;0.992	T	0.63708	-0.6576	9	0.48119	T	0.1	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	4649;6737;6915;19;6735;4323	Q5TBT1;E7ERU2;E9PEB9;Q9H722;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	H	4323;6915;6737;4649;6411;4540;6626	ENSP00000244364:N4323H;ENSP00000359790:N6915H;ENSP00000359805:N6737H;ENSP00000400883:N4649H;ENSP00000393645:N6411H;ENSP00000359824:N4540H;ENSP00000354508:N6626H	ENSP00000244364:N4323H	N	-	1	0	DST	56462288	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	7.997000	0.88414	2.291000	0.77112	0.533000	0.62120	AAT		0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56374627	56374627	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56374627G>A	ENST00000361203.3	-	69	17872	c.17865C>T	c.(17863-17865)atC>atT	p.I5955I	DST_ENST00000446842.2_Silent_p.I5740I|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.I3978I|DST_ENST00000244364.6_Silent_p.I3652I|DST_ENST00000370754.5_Silent_p.I6244I|DST_ENST00000370769.4_Silent_p.I6066I|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Silent_p.I3869I			Q03001	DYST_HUMAN	dystonin	5956					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.I6066I(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)			GACGTTCCACGATGCGTTCCA	0.433																																					p.I3652I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10956T	6						.						99.0	89.0	92.0					6																	56374627		1884	4123	6007	56482586	SO:0001819	synonymous_variant	667	exon55			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.17865C>T	6.37:g.56374627G>A			56482586	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																																																																																					0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56433282	56433282	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56433282C>T	ENST00000361203.3	-	51	13364	c.13357G>A	c.(13357-13359)Gca>Aca	p.A4453T	DST_ENST00000446842.2_Missense_Mutation_p.A4129T|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A2367T|DST_ENST00000244364.6_Missense_Mutation_p.A2041T|DST_ENST00000370754.5_Missense_Mutation_p.A4633T|DST_ENST00000370769.4_Missense_Mutation_p.A4455T|DST_ENST00000370788.2_Missense_Mutation_p.A2367T			Q03001	DYST_HUMAN	dystonin	4453					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.A4455T(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)			TTAACTGCTGCTATTGCCTTT	0.328																																					p.A2041T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6121A	6						.						147.0	138.0	141.0					6																	56433282		1844	4095	5939	56541241	SO:0001583	missense	667	exon36			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.13357G>A	6.37:g.56433282C>T	ENSP00000354508:p.Ala4453Thr		56541241	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	16.28	3.078025	0.55753	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.63417	1.19;-0.01;-0.01;0.15;0.94;0.11;-0.04	6.1	4.32	0.51571	.	0.251114	0.27778	N	0.017894	T	0.39835	0.1093	L	0.40543	1.245	0.26664	N	0.971869	P;P;B;B;B	0.47106	0.89;0.745;0.003;0.0;0.23	P;B;B;B;B	0.45232	0.474;0.298;0.012;0.002;0.133	T	0.27938	-1.0059	9	0.20046	T	0.44	.	12.2071	0.54358	0.0:0.8644:0.0:0.1356	.	2367;4455;4633;4453;2041	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	2041;4633;4455;2367;4129;2367;4453	ENSP00000244364:A2041T;ENSP00000359790:A4633T;ENSP00000359805:A4455T;ENSP00000400883:A2367T;ENSP00000393645:A4129T;ENSP00000359824:A2367T;ENSP00000354508:A4453T	ENSP00000244364:A2041T	A	-	1	0	DST	56541241	0.998000	0.40836	0.802000	0.32245	0.996000	0.88848	1.796000	0.38794	1.596000	0.50062	0.650000	0.86243	GCA		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56433368	56433368	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56433368T>G	ENST00000361203.3	-	51	13278	c.13271A>C	c.(13270-13272)aAa>aCa	p.K4424T	DST_ENST00000446842.2_Missense_Mutation_p.K4100T|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.K2338T|DST_ENST00000244364.6_Missense_Mutation_p.K2012T|DST_ENST00000370754.5_Missense_Mutation_p.K4604T|DST_ENST00000370769.4_Missense_Mutation_p.K4426T|DST_ENST00000370788.2_Missense_Mutation_p.K2338T			Q03001	DYST_HUMAN	dystonin	4424					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.K4426T(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)			CTCTGGTGTTTTTAAACTCCA	0.323																																					p.K2012T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6035C	6						.						117.0	107.0	110.0					6																	56433368		1822	4070	5892	56541327	SO:0001583	missense	667	exon36			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.13271A>C	6.37:g.56433368T>G	ENSP00000354508:p.Lys4424Thr		56541327	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	18.12	3.552241	0.65311	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.97	5.97	0.96955	.	0.000000	0.56097	D	0.000037	T	0.50411	0.1614	M	0.73962	2.25	0.32991	D	0.524930	D;D;D;D;P	0.89917	0.999;1.0;1.0;0.998;0.72	D;D;D;D;P	0.97110	0.991;0.999;1.0;0.991;0.544	T	0.45614	-0.9249	9	0.23302	T	0.38	.	16.4523	0.83996	0.0:0.0:0.0:1.0	.	2338;4426;4604;4424;2012	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	2012;4604;4426;2338;4100;2338;4424	ENSP00000244364:K2012T;ENSP00000359790:K4604T;ENSP00000359805:K4426T;ENSP00000400883:K2338T;ENSP00000393645:K4100T;ENSP00000359824:K2338T;ENSP00000354508:K4424T	ENSP00000244364:K2012T	K	-	2	0	DST	56541327	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.794000	0.75135	2.286000	0.76751	0.455000	0.32223	AAA		0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56482831	56482831	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56482831C>A	ENST00000370765.6	-	23	6108	c.6001G>T	c.(6001-6003)Gat>Tat	p.D2001Y	DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					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.D2001Y(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATGCGTTATCTTGATACCTA	0.403																																					p.D2001Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6001T	6						.						161.0	159.0	160.0					6																	56482831		2203	4300	6503	56590790	SO:0001583	missense	667	exon23			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	ENST00000370765.6:c.6001G>T	6.37:g.56482831C>A	ENSP00000359801:p.Asp2001Tyr		56590790	NM_001723	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	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602252	0.46423	.	.	ENSG00000151914	ENST00000370765	T	0.35789	1.29	5.49	4.63	0.57726	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.26635	N	0.97241	P	0.46142	0.873	P	0.52267	0.694	T	0.12293	-1.0553	7	0.33141	T	0.24	.	10.0817	0.42393	0.0:0.848:0.0:0.152	.	2001	Q03001-3	.	Y	2001	ENSP00000359801:D2001Y	ENSP00000359801:D2001Y	D	-	1	0	DST	56590790	1.000000	0.71417	0.649000	0.29536	0.847000	0.48162	2.496000	0.45346	1.316000	0.45131	0.557000	0.71058	GAT		0.403	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56482915	56482915	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56482915T>C	ENST00000370765.6	-	23	6024	c.5917A>G	c.(5917-5919)Aca>Gca	p.T1973A	DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					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.T1973A(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGGGGTTTGTCTCATCAAAA	0.438																																					p.T1973A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5917G	6						.						118.0	117.0	117.0					6																	56482915		2203	4300	6503	56590874	SO:0001583	missense	667	exon23			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	ENST00000370765.6:c.5917A>G	6.37:g.56482915T>C	ENSP00000359801:p.Thr1973Ala		56590874	NM_001723	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	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	7.825	0.718557	0.15372	.	.	ENSG00000151914	ENST00000370765	T	0.28666	1.6	5.49	-0.245	0.13027	.	.	.	.	.	T	0.04227	0.0117	.	.	.	0.19300	N	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.38845	-0.9642	7	0.21540	T	0.41	.	0.7968	0.01067	0.2078:0.245:0.1193:0.4279	.	1973	Q03001-3	.	A	1973	ENSP00000359801:T1973A	ENSP00000359801:T1973A	T	-	1	0	DST	56590874	0.677000	0.27577	0.633000	0.29310	0.912000	0.54170	-0.118000	0.10692	0.389000	0.25086	0.455000	0.32223	ACA		0.438	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56484738	56484738	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56484738T>G	ENST00000370765.6	-	23	4201	c.4094A>C	c.(4093-4095)aAa>aCa	p.K1365T	DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					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.K1365T(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACCTGCTGTTTGAGTTCTTC	0.458																																					p.K1365T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4094C	6						.						177.0	164.0	168.0					6																	56484738		2203	4300	6503	56592697	SO:0001583	missense	667	exon23			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	ENST00000370765.6:c.4094A>C	6.37:g.56484738T>G	ENSP00000359801:p.Lys1365Thr		56592697	NM_001723	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	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	6.073	0.381698	0.11524	.	.	ENSG00000151914	ENST00000370765	T	0.23754	1.89	4.58	-1.11	0.09840	.	.	.	.	.	T	0.06234	0.0161	.	.	.	0.09310	N	0.999993	B	0.19817	0.039	B	0.28849	0.095	T	0.42565	-0.9444	7	0.23302	T	0.38	.	9.1044	0.36689	0.0:0.3199:0.0:0.6801	.	1365	Q03001-3	.	T	1365	ENSP00000359801:K1365T	ENSP00000359801:K1365T	K	-	2	0	DST	56592697	0.067000	0.21026	0.005000	0.12908	0.537000	0.34900	0.436000	0.21526	-0.329000	0.08527	0.528000	0.53228	AAA		0.458	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56496828	56496828	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56496828C>A	ENST00000361203.3	-	25	3190	c.3183G>T	c.(3181-3183)gaG>gaT	p.E1061D	DST_ENST00000446842.2_Missense_Mutation_p.E735D|DST_ENST00000312431.6_Missense_Mutation_p.E1061D|DST_ENST00000421834.2_Missense_Mutation_p.E1061D|DST_ENST00000244364.6_Missense_Mutation_p.E735D|DST_ENST00000518935.1_Missense_Mutation_p.E735D|DST_ENST00000370754.5_Missense_Mutation_p.E1239D|DST_ENST00000370769.4_Missense_Mutation_p.E1061D|DST_ENST00000370765.6_Missense_Mutation_p.E735D|DST_ENST00000370788.2_Missense_Mutation_p.E1061D			Q03001	DYST_HUMAN	dystonin	1061					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.E735D(2)|p.E1061D(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)			AAACTGATTCCTCTTGCTCCT	0.338																																					p.E735D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2205T	6						.						75.0	76.0	76.0					6																	56496828		2203	4300	6503	56604787	SO:0001583	missense	667	exon15			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.3183G>T	6.37:g.56496828C>A	ENSP00000354508:p.Glu1061Asp		56604787	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	16.13	3.035792	0.54896	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.66280	1.36;1.36;1.36;1.36;1.36;1.36;1.36;-0.13;1.36;1.36;1.36;-0.2	5.84	2.68	0.31781	.	0.000000	0.50627	D	0.000104	T	0.50411	0.1614	L	0.29908	0.895	0.30580	N	0.762605	D;D;D;B;B;P;D;D	0.67145	0.996;0.994;0.996;0.031;0.14;0.47;0.996;0.984	P;D;P;B;B;P;P;P	0.70716	0.754;0.97;0.754;0.019;0.239;0.646;0.754;0.888	T	0.49781	-0.8903	9	0.28530	T	0.3	.	9.2855	0.37755	0.0:0.631:0.0:0.369	.	1061;1061;1239;735;735;735;1061;735	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	D	735;1239;1061;1061;735;1061;1061;1061;735;1101;735;735	ENSP00000244364:E735D;ENSP00000359790:E1239D;ENSP00000359805:E1061D;ENSP00000400883:E1061D;ENSP00000393645:E735D;ENSP00000307959:E1061D;ENSP00000359824:E1061D;ENSP00000354508:E1061D;ENSP00000404924:E735D;ENSP00000431030:E1101D;ENSP00000359801:E735D;ENSP00000431003:E735D	ENSP00000244364:E735D	E	-	3	2	DST	56604787	0.995000	0.38212	1.000000	0.80357	0.790000	0.44656	0.461000	0.21940	0.827000	0.34685	-0.229000	0.12294	GAG		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
KIAA1586	57691	broad.mit.edu	37	6	56918108	56918108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:56918108G>T	ENST00000370733.4	+	4	1018	c.811G>T	c.(811-813)Gaa>Taa	p.E271*	KIAA1586_ENST00000545356.1_Nonsense_Mutation_p.E244*	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	271							nucleic acid binding (GO:0003676)	p.E271*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGGCAAGAGAATTACAGGA	0.289																																					p.E271X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G811T	6						.						29.0	32.0	31.0					6																	56918108		2190	4286	6476	57026067	SO:0001587	stop_gained	57691	exon4			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.811G>T	6.37:g.56918108G>T	ENSP00000359768:p.Glu271*		57026067	NM_020931	A8K4M3|Q8IW25	Nonsense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	g	18.85	3.711538	0.68730	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-9.8264	12.3552	0.55171	0.0:0.0:1.0:0.0	.	.	.	.	X	271;244	.	ENSP00000359768:E271X	E	+	1	0	KIAA1586	57026067	1.000000	0.71417	0.905000	0.35620	0.497000	0.33675	2.908000	0.48750	2.359000	0.80004	0.467000	0.42956	GAA		0.289	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	
ZNF451	26036	broad.mit.edu	37	6	57011899	57011899	+	Missense_Mutation	SNP	G	G	A	rs536719366		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:57011899G>A	ENST00000370706.4	+	10	1260	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R339Q|ZNF451_ENST00000491832.2_Missense_Mutation_p.R339Q|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	339					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.R339Q(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)			GTTCATTGTCGAAATGCTGGA	0.328													G|||	1	0.000199681	0.0	0.0	5008	,	,		18357	0.0		0.0	False		,,,				2504	0.001				p.R339Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016A	6						.						50.0	51.0	50.0					6																	57011899		2203	4300	6503	57119858	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.1016G>A	6.37:g.57011899G>A	ENSP00000359740:p.Arg339Gln		57119858	NM_015555	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193548	0.38707	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.08370	3.1;3.1;3.1	5.75	3.94	0.45596	.	0.074201	0.53938	N	0.000055	T	0.02047	0.0064	L	0.45581	1.43	0.80722	D	1	P;P;P;P	0.46987	0.605;0.612;0.888;0.612	B;B;B;B	0.29716	0.054;0.045;0.106;0.045	T	0.54748	-0.8247	10	0.33141	T	0.24	-4.7848	6.9101	0.24331	0.0675:0.1263:0.6752:0.131	.	339;339;339;339	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	Q	339	ENSP00000359740:R339Q;ENSP00000350083:R339Q;ENSP00000421645:R339Q	ENSP00000350083:R339Q	R	+	2	0	ZNF451	57119858	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.400000	0.52594	0.739000	0.32628	0.655000	0.94253	CGA		0.328	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
ZNF451	26036	broad.mit.edu	37	6	57012762	57012762	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:57012762T>C	ENST00000370706.4	+	10	2123	c.1879T>C	c.(1879-1881)Tct>Cct	p.S627P	RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S627P|ZNF451_ENST00000491832.2_Missense_Mutation_p.S627P|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	627					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.S627P(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)			GCACTGCATGTCTTTGGCAAG	0.428																																					p.S627P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1879C	6						.						81.0	82.0	82.0					6																	57012762		2203	4297	6500	57120721	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.1879T>C	6.37:g.57012762T>C	ENSP00000359740:p.Ser627Pro		57120721	NM_015555	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206516	0.58343	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19938	2.11;2.12;2.11	4.98	3.78	0.43462	Zinc finger, C2H2-like (1);	0.274288	0.36002	N	0.002851	T	0.21387	0.0515	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.67145	0.995;0.996;0.996;0.996	P;D;P;D	0.66979	0.894;0.948;0.876;0.948	T	0.02093	-1.1215	10	0.44086	T	0.13	-13.1746	7.3877	0.26893	0.1431:0.0:0.1496:0.7073	.	627;627;627;627	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	P	627	ENSP00000359740:S627P;ENSP00000350083:S627P;ENSP00000421645:S627P	ENSP00000350083:S627P	S	+	1	0	ZNF451	57120721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.705000	0.54823	0.809000	0.34255	0.455000	0.32223	TCT		0.428	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
ZNF451	26036	broad.mit.edu	37	6	57012841	57012841	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:57012841G>A	ENST00000370706.4	+	10	2202	c.1958G>A	c.(1957-1959)cGa>cAa	p.R653Q	RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R653Q|ZNF451_ENST00000491832.2_Missense_Mutation_p.R653Q|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	653					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.R653Q(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)			ACATTGTACCGACATTGCCAA	0.373																																					p.R653Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1958A	6						.						83.0	85.0	84.0					6																	57012841		2203	4299	6502	57120800	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.1958G>A	6.37:g.57012841G>A	ENSP00000359740:p.Arg653Gln		57120800	NM_015555	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542034	0.85917	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.20332	2.08;2.09;2.09	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.998;0.993;0.999;0.993	D;P;D;P	0.68765	0.96;0.826;0.923;0.826	T	0.02617	-1.1133	10	0.44086	T	0.13	-9.9854	18.9573	0.92664	0.0:0.0:1.0:0.0	.	653;653;653;653	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	Q	653	ENSP00000359740:R653Q;ENSP00000350083:R653Q;ENSP00000421645:R653Q	ENSP00000350083:R653Q	R	+	2	0	ZNF451	57120800	1.000000	0.71417	0.503000	0.27626	0.905000	0.53344	8.979000	0.93455	2.541000	0.85698	0.557000	0.71058	CGA		0.373	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
KHDRBS2	202559	broad.mit.edu	37	6	62611194	62611194	+	Missense_Mutation	SNP	C	C	T	rs187067762	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:62611194C>T	ENST00000281156.4	-	5	844	c.566G>A	c.(565-567)gGt>gAt	p.G189D		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.G189D(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCCTCTAATACCTCTGCCACG	0.408																																					p.G189D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566A	6						.						116.0	115.0	115.0					6																	62611194		2203	4300	6503	62669153	SO:0001583	missense	202559	exon5			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.566G>A	6.37:g.62611194C>T	ENSP00000281156:p.Gly189Asp		62669153	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591826	0.66219	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.16597	2.33	5.97	5.97	0.96955	.	0.095230	0.64402	D	0.000001	T	0.13415	0.0325	M	0.62723	1.935	0.48087	D	0.999587	P	0.36683	0.565	B	0.32980	0.156	T	0.02257	-1.1187	10	0.39692	T	0.17	-3.2797	20.4388	0.99107	0.0:1.0:0.0:0.0	.	189	Q5VWX1	KHDR2_HUMAN	D	189	ENSP00000281156:G189D	ENSP00000281156:G189D	G	-	2	0	KHDRBS2	62669153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.836000	0.97738	0.655000	0.94253	GGT		0.408	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
BAI3	577	broad.mit.edu	37	6	69348961	69348961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:69348961C>T	ENST00000370598.1	+	3	1215	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	132	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.R132*(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)				TCAAATACGTCGAGTATTTCC	0.323																																					p.R132X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C394T	6						.						37.0	40.0	39.0					6																	69348961		2203	4300	6503	69405682	SO:0001587	stop_gained	577	exon3			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.394C>T	6.37:g.69348961C>T	ENSP00000359630:p.Arg132*		69405682	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	44	11.039257	0.99507	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.32	4.43	0.53597	.	0.079063	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0701	0.80919	0.0:0.8655:0.1345:0.0	.	.	.	.	X	132	.	ENSP00000359630:R132X	R	+	1	2	BAI3	69405682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.553000	0.53713	1.323000	0.45263	0.655000	0.94253	CGA		0.323	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
BAI3	577	broad.mit.edu	37	6	69640491	69640491	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:69640491A>G	ENST00000370598.1	+	4	1619	c.798A>G	c.(796-798)cgA>cgG	p.R266R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	266					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.R266R(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)				AAAGTCAGCGACCTCGATCTG	0.343																																					p.R266R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A798G	6						.						98.0	95.0	96.0					6																	69640491		2202	4300	6502	69697212	SO:0001819	synonymous_variant	577	exon4			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.798A>G	6.37:g.69640491A>G			69697212	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.343	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
COL9A1	1297	broad.mit.edu	37	6	71009859	71009859	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:71009859C>T	ENST00000357250.6	-	4	344	c.186G>A	c.(184-186)caG>caA	p.Q62Q	COL9A1_ENST00000370496.3_Silent_p.Q62Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	62	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.Q62Q(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						CTACCTGGAACTGAGAGATCA	0.363																																					p.Q62Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G186A	6						.						81.0	78.0	79.0					6																	71009859		2203	4300	6503	71066580	SO:0001819	synonymous_variant	1297	exon4				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.186G>A	6.37:g.71009859C>T			71066580	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	CCDS4971.1																																																																																				0.363	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
KHDC1	80759	broad.mit.edu	37	6	73951296	73951296	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:73951296C>A	ENST00000370384.3	-	5	1170	c.670G>T	c.(670-672)Gtg>Ttg	p.V224L	KHDC1_ENST00000257765.5_Missense_Mutation_p.V151L|RP11-257K9.8_ENST00000423730.3_Intron	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	224						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)	p.V151L(1)		large_intestine(1)|lung(4)|skin(1)	6						CAACCAATCACTTGGTAAGGG	0.498																																					p.V151L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451T	6						.						113.0	115.0	115.0					6																	73951296		1977	4144	6121	74008017	SO:0001583	missense	80759	exon4				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.670G>T	6.37:g.73951296C>A	ENSP00000359411:p.Val224Leu		74008017	NM_030568	Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	ENST00000370384.3	37	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.106458	0.01828	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	T	0.34859	1.34	1.99	-3.99	0.04069	.	.	.	.	.	T	0.02807	0.0084	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	9	0.05351	T	0.99	.	0.1615	0.00104	0.3601:0.2133:0.2082:0.2185	.	224	Q4VXA5	KHDC1_HUMAN	L	151;224	ENSP00000359411:V224L	ENSP00000257765:V151L	V	-	1	0	KHDC1	74008017	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.927000	0.00332	-4.352000	0.00054	-2.070000	0.00385	GTG		0.498	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568	
CD109	135228	broad.mit.edu	37	6	74530227	74530227	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:74530227A>C	ENST00000287097.5	+	32	4214	c.4102A>C	c.(4102-4104)Aac>Cac	p.N1368H	CD109_ENST00000422508.2_Missense_Mutation_p.N1291H|CD109_ENST00000437994.2_Missense_Mutation_p.N1351H			Q6YHK3	CD109_HUMAN	CD109 molecule	1368					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.N1368H(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						TGCTGTGAGAAACTTTAAAGT	0.353																																					p.N1368H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4102C	6						.						87.0	85.0	86.0					6																	74530227		2203	4300	6503	74586947	SO:0001583	missense	135228	exon32			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.4102A>C	6.37:g.74530227A>C	ENSP00000287097:p.Asn1368His		74586947	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053609	0.36277	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.21932	1.98;1.98;1.98	4.95	3.8	0.43715	Alpha-macroglobulin, receptor-binding (3);	0.428744	0.28006	N	0.016964	T	0.05593	0.0147	N	0.26042	0.785	0.24765	N	0.992904	B;B;B	0.19706	0.038;0.016;0.008	B;B;B	0.29267	0.029;0.072;0.1	T	0.26395	-1.0104	10	0.59425	D	0.04	.	5.2939	0.15741	0.6603:0.0:0.3397:0.0	.	1291;1351;1368	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	H	1351;1291;1368	ENSP00000388062:N1351H;ENSP00000404475:N1291H;ENSP00000287097:N1368H	ENSP00000287097:N1368H	N	+	1	0	CD109	74586947	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.166000	0.50785	0.923000	0.37045	0.459000	0.35465	AAC		0.353	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
COL12A1	1303	broad.mit.edu	37	6	75838045	75838045	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:75838045C>T	ENST00000322507.8	-	38	6616	c.6307G>A	c.(6307-6309)Gat>Aat	p.D2103N	COL12A1_ENST00000483888.2_Missense_Mutation_p.D2103N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D939N|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2103N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2103	Fibronectin type-III 16. {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.D2103N(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						TGGCCACCATCTCCATCTTCA	0.378																																					p.D2103N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6307A	6						.						142.0	141.0	141.0					6																	75838045		1879	4099	5978	75894765	SO:0001583	missense	1303	exon38			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.6307G>A	6.37:g.75838045C>T	ENSP00000325146:p.Asp2103Asn		75894765	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144794	0.77888	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.118123	0.56097	D	0.000021	T	0.57799	0.2078	L	0.53561	1.675	0.46376	D	0.999017	D;D	0.62365	0.967;0.991	P;D	0.63957	0.747;0.92	T	0.51919	-0.8644	10	0.44086	T	0.13	.	20.275	0.98485	0.0:1.0:0.0:0.0	.	939;2103	Q99715-2;Q99715	.;COCA1_HUMAN	N	2103;2103;939;2103;2103	ENSP00000325146:D2103N;ENSP00000305147:D939N;ENSP00000412864:D2103N;ENSP00000421216:D2103N	ENSP00000325146:D2103N	D	-	1	0	COL12A1	75894765	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.194000	0.42668	2.800000	0.96347	0.455000	0.32223	GAT		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75851838	75851838	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:75851838C>A	ENST00000322507.8	-	27	5176	c.4867G>T	c.(4867-4869)Gac>Tac	p.D1623Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.D1623Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D459Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1623Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1623	Fibronectin type-III 11. {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.D1623Y(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						GAGAAGAGGTCTTTGAGGGAA	0.473																																					p.D1623Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4867T	6						.						205.0	200.0	201.0					6																	75851838		2137	4257	6394	75908558	SO:0001583	missense	1303	exon27			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.4867G>T	6.37:g.75851838C>A	ENSP00000325146:p.Asp1623Tyr		75908558	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.85|17.85	3.490732|3.490732	0.64074|0.64074	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.57436|.	0.4;0.4;0.4;0.4|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.105718|.	0.64402|.	D|.	0.000009|.	T|T	0.73102|0.73102	0.3544|0.3544	M|M	0.72118|0.72118	2.19|2.19	0.48632|0.48632	D|D	0.999681|0.999681	D;D|.	0.69078|.	0.997;0.994|.	D;D|.	0.67103|.	0.916;0.949|.	T|T	0.68784|0.68784	-0.5317|-0.5317	10|5	0.51188|.	T|.	0.08|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	459;1623|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	Y|I	1623;1623;459;1623;1623|364	ENSP00000325146:D1623Y;ENSP00000305147:D459Y;ENSP00000412864:D1623Y;ENSP00000421216:D1623Y|.	ENSP00000325146:D1623Y|.	D|R	-|-	1|2	0|0	COL12A1|COL12A1	75908558|75908558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.438000|0.438000	0.31896|0.31896	3.765000|3.765000	0.55272|0.55272	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.473	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75893642	75893642	+	Missense_Mutation	SNP	C	C	T	rs377285294		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:75893642C>T	ENST00000322507.8	-	9	1525	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	COL12A1_ENST00000483888.2_Missense_Mutation_p.A406T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A406T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	406	Fibronectin type-III 2. {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.A406T(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						CCCTTCATGGCGGAAACACTG	0.488																																					p.A406T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1216A	6						.	C	THR/ALA,	0,4040		0,0,2020	203.0	194.0	197.0		1216,	3.6	0.9	6		197	1,8357		0,1,4178	no	missense,intron	COL12A1	NM_004370.5,NM_080645.2	58,	0,1,6198	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,	406/3064,	75893642	1,12397	2020	4179	6199	75950362	SO:0001583	missense	1303	exon9			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.1216G>A	6.37:g.75893642C>T	ENSP00000325146:p.Ala406Thr		75950362	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093926	0.76870	0.0	1.2E-4	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.67523	-0.27;-0.27;-0.27	5.55	3.57	0.40892	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.175725	0.38326	N	0.001725	T	0.66317	0.2777	M	0.73753	2.245	0.48901	D	0.999723	P;P	0.51791	0.54;0.948	B;P	0.51193	0.204;0.662	T	0.73145	-0.4075	10	0.72032	D	0.01	.	14.1885	0.65623	0.3165:0.6835:0.0:0.0	.	406;406	D6RGG3;Q99715	.;COCA1_HUMAN	T	406	ENSP00000325146:A406T;ENSP00000412864:A406T;ENSP00000421216:A406T	ENSP00000325146:A406T	A	-	1	0	COL12A1	75950362	0.999000	0.42202	0.945000	0.38365	0.665000	0.39181	3.819000	0.55686	1.157000	0.42530	0.655000	0.94253	GCC		0.488	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
TMEM30A	55754	broad.mit.edu	37	6	75965984	75965984	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:75965984C>T	ENST00000230461.6	-	7	1249	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	TMEM30A_ENST00000475111.2_Missense_Mutation_p.R271Q|TMEM30A_ENST00000370050.5_Missense_Mutation_p.R188Q	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	307					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.R307Q(2)		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						CATCCGTTTTCGTCCATCAAA	0.378																																					p.R307Q												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G920A	6						.						107.0	103.0	104.0					6																	75965984		2203	4300	6503	76022704	SO:0001583	missense	55754	exon7			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.920G>A	6.37:g.75965984C>T	ENSP00000230461:p.Arg307Gln		76022704	NM_018247	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650705	0.87958	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.88	5.88	0.94601	.	0.055311	0.64402	D	0.000001	T	0.45895	0.1365	L	0.54323	1.7	0.80722	D	1	P;P	0.46656	0.762;0.882	B;B	0.42625	0.273;0.393	T	0.37663	-0.9696	9	0.19147	T	0.46	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	271;307	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	Q	307;291;188;271	.	ENSP00000230461:R307Q	R	-	2	0	TMEM30A	76022704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.066000	0.71185	2.780000	0.95670	0.655000	0.94253	CGA		0.378	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247	
IMPG1	3617	broad.mit.edu	37	6	76715089	76715089	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:76715089G>T	ENST00000369950.3	-	10	1239	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.L350L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGTAGCTGTGAGATAGATTT	0.438																																					p.L350L	Pancreas(37;839 1141 2599 26037)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1050A	6						.						213.0	185.0	194.0					6																	76715089		2203	4300	6503	76771809	SO:0001819	synonymous_variant	3617	exon10			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1050C>A	6.37:g.76715089G>T			76771809	NM_001563		Silent	SNP	ENST00000369950.3	37	CCDS4985.1																																																																																				0.438	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
ELOVL4	6785	broad.mit.edu	37	6	80634686	80634686	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:80634686T>C	ENST00000369816.4	-	3	652	c.352A>G	c.(352-354)Aat>Gat	p.N118D		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	118					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.N118D(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TCATGAACATTATTAGAATAA	0.299																																					p.N118D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A352G	6						.						75.0	78.0	77.0					6																	80634686		2201	4298	6499	80691405	SO:0001583	missense	6785	exon3			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.352A>G	6.37:g.80634686T>C	ENSP00000358831:p.Asn118Asp		80691405	NM_022726	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	T	8.557	0.876921	0.17395	.	.	ENSG00000118402	ENST00000369816	T	0.20463	2.07	5.92	0.491	0.16867	.	0.238315	0.50627	N	0.000105	T	0.02047	0.0064	N	0.04669	-0.19	0.35075	D	0.762807	B	0.02656	0.0	B	0.11329	0.006	T	0.45906	-0.9229	10	0.05620	T	0.96	-10.915	10.0	0.41922	0.0:0.3935:0.0:0.6065	.	118	Q9GZR5	ELOV4_HUMAN	D	118	ENSP00000358831:N118D	ENSP00000358831:N118D	N	-	1	0	ELOVL4	80691405	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	0.897000	0.28390	0.159000	0.19401	-0.256000	0.11100	AAT		0.299	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1		
DOPEY1	23033	broad.mit.edu	37	6	83880116	83880116	+	IGR	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:83880116C>A	ENST00000349129.2	+	0	8210				PGM3_ENST00000512866.1_Missense_Mutation_p.D483Y|PGM3_ENST00000513973.1_Missense_Mutation_p.D483Y|PGM3_ENST00000283977.4_Missense_Mutation_p.D402Y|DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000506587.1_Missense_Mutation_p.D511Y	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport (GO:0015031)			p.D483Y(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)		TTCACCAGGTCATTGATTGCC	0.473																																					p.D483Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1447T	6						.						168.0	157.0	160.0					6																	83880116		2203	4300	6503	83936835	SO:0001628	intergenic_variant	5238	exon12			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		6.37:g.83880116C>A			83936835	NM_015599	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812112	0.70797	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000509219	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.72	5.72	0.89469	Alpha-D-phosphohexomutase, C-terminal (1);	0.564778	0.22100	N	0.064631	T	0.44746	0.1308	L	0.55481	1.735	0.43435	D	0.995609	P;P;P	0.46457	0.878;0.698;0.666	P;P;P	0.49477	0.544;0.612;0.54	T	0.41484	-0.9506	10	0.72032	D	0.01	-35.3992	20.2406	0.98372	0.0:1.0:0.0:0.0	.	511;511;483	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	Y	483;483;402;511;114	ENSP00000424874:D483Y;ENSP00000421565:D483Y;ENSP00000283977:D402Y;ENSP00000425809:D511Y;ENSP00000423389:D114Y	ENSP00000283977:D402Y	D	-	1	0	PGM3	83936835	0.992000	0.36948	0.966000	0.40874	0.646000	0.38490	0.788000	0.26872	2.857000	0.98124	0.650000	0.86243	GAC		0.473	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
PGM3	5238	broad.mit.edu	37	6	83889686	83889686	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:83889686C>T	ENST00000283977.4	-	6	671	c.545G>A	c.(544-546)gGa>gAa	p.G182E	PGM3_ENST00000506587.1_Splice_Site_p.G291E|PGM3_ENST00000512866.1_Splice_Site_p.G263E|PGM3_ENST00000513973.1_Splice_Site_p.G263E					phosphoglucomutase 3									p.G263E(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AATTTCCATTCCTAGCACACA	0.313																																					p.G263E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G788A	6						.						114.0	100.0	105.0					6																	83889686		2203	4300	6503	83946405	SO:0001630	splice_region_variant	5238	exon7			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.545-1G>A	6.37:g.83889686C>T			83946405	NM_015599		Missense_Mutation	SNP	ENST00000283977.4	37		.	.	.	.	.	.	.	.	.	.	C	22.8	4.335661	0.81801	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.71	5.71	0.89125	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.046651	0.85682	D	0.000000	T	0.78052	0.4223	M	0.82517	2.595	0.80722	D	1	D;P;D	0.69078	0.997;0.949;0.991	D;P;D	0.72075	0.976;0.734;0.92	T	0.76170	-0.3057	10	0.39692	T	0.17	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	291;291;263	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	E	263;263;182;291	ENSP00000424874:G263E;ENSP00000421565:G263E;ENSP00000283977:G182E;ENSP00000425809:G291E	ENSP00000283977:G182E	G	-	2	0	PGM3	83946405	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.574000	0.67424	2.709000	0.92574	0.655000	0.94253	GGA		0.313	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599	Missense_Mutation
ME1	4199	broad.mit.edu	37	6	83938569	83938569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:83938569C>A	ENST00000369705.3	-	10	1224	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	ME1_ENST00000543031.1_Nonsense_Mutation_p.E295*|ME1_ENST00000541327.1_Nonsense_Mutation_p.E204*	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	370					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.E370*(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		GGTTTTATTTCTTGAACAATG	0.393																																					p.E370X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1108T	6						.						231.0	223.0	226.0					6																	83938569		2203	4300	6503	83995288	SO:0001587	stop_gained	4199	exon10			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1108G>T	6.37:g.83938569C>A	ENSP00000358719:p.Glu370*		83995288	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Nonsense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	36	5.738384	0.96865	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	.	.	.	5.86	-1.64	0.08318	.	0.475201	0.26432	N	0.024416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3256	6.5377	0.22363	0.113:0.4267:0.0:0.4602	.	.	.	.	X	370;30;204;295	.	ENSP00000358719:E370X	E	-	1	0	ME1	83995288	0.020000	0.18652	0.974000	0.42286	0.988000	0.76386	0.259000	0.18405	-0.078000	0.12730	-0.142000	0.14014	GAA		0.393	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
CYB5R4	51167	broad.mit.edu	37	6	84603245	84603245	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:84603245C>T	ENST00000369681.5	+	3	374	c.234C>T	c.(232-234)ttC>ttT	p.F78F	CYB5R4_ENST00000369679.4_Silent_p.F44F	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	78	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				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.F78F(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)		GTACAGGTTTCGTTTATAATG	0.318																																					p.F78F	Esophageal Squamous(86;1289 1332 25971 40349 52675)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C234T	6						.						137.0	131.0	133.0					6																	84603245		2203	4300	6503	84659964	SO:0001819	synonymous_variant	51167	exon3			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.234C>T	6.37:g.84603245C>T			84659964	NM_016230	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	ENST00000369681.5	37	CCDS5000.2																																																																																				0.318	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	
MRAP2	112609	broad.mit.edu	37	6	84798828	84798828	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:84798828G>T	ENST00000257776.4	+	4	381	c.246G>T	c.(244-246)gaG>gaT	p.E82D		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	82					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.E82D(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTCCTCAGAGAAGAGATTCA	0.443																																					p.E82D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G246T	6						.						72.0	74.0	73.0					6																	84798828		2203	4300	6503	84855547	SO:0001583	missense	112609	exon4			AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.246G>T	6.37:g.84798828G>T	ENSP00000257776:p.Glu82Asp		84855547	NM_138409	A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.496109	0.64186	.	.	ENSG00000135324	ENST00000257776	D	0.86432	-2.12	5.54	3.53	0.40419	.	0.109690	0.64402	D	0.000010	T	0.79782	0.4505	L	0.51422	1.61	0.43863	D	0.996467	P	0.43094	0.799	P	0.47299	0.543	T	0.79349	-0.1840	10	0.42905	T	0.14	-3.3385	8.4487	0.32858	0.2397:0.0:0.7603:0.0	.	82	Q96G30	MRAP2_HUMAN	D	82	ENSP00000257776:E82D	ENSP00000257776:E82D	E	+	3	2	MRAP2	84855547	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.869000	0.48444	1.327000	0.45338	0.655000	0.94253	GAG		0.443	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409	
MRAP2	112609	broad.mit.edu	37	6	84799037	84799037	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:84799037G>T	ENST00000257776.4	+	4	590	c.455G>T	c.(454-456)gGg>gTg	p.G152V		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	152					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.G152V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGAAGCAGTGGGCAGCCAGAG	0.507																																					p.G152V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455T	6						.						116.0	111.0	113.0					6																	84799037		2203	4300	6503	84855756	SO:0001583	missense	112609	exon4			AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.455G>T	6.37:g.84799037G>T	ENSP00000257776:p.Gly152Val		84855756	NM_138409	A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	G	6.104	0.387500	0.11581	.	.	ENSG00000135324	ENST00000257776	D	0.83250	-1.7	5.33	4.46	0.54185	.	0.485137	0.23123	N	0.051667	T	0.64394	0.2594	L	0.47716	1.5	0.43808	D	0.996361	B	0.31859	0.343	B	0.29942	0.109	T	0.69914	-0.5016	10	0.87932	D	0	0.7417	6.3773	0.21515	0.2164:0.1354:0.6481:0.0	.	152	Q96G30	MRAP2_HUMAN	V	152	ENSP00000257776:G152V	ENSP00000257776:G152V	G	+	2	0	MRAP2	84855756	0.215000	0.23574	0.252000	0.24328	0.181000	0.23173	0.747000	0.26290	1.393000	0.46605	0.655000	0.94253	GGG		0.507	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409	
CEP162	22832	broad.mit.edu	37	6	84883776	84883776	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:84883776T>G	ENST00000403245.3	-	16	2271	c.2157A>C	c.(2155-2157)ggA>ggC	p.G719G	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.G643G	NM_014895.2	NP_055710.2												p.G719G(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)		CCTGTTGATATCCTTGAAGAA	0.378																																					p.G719G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2157C	6						.						238.0	224.0	229.0					6																	84883776		2203	4299	6502	84940495	SO:0001819	synonymous_variant	22832	exon16																														ENST00000403245.3:c.2157A>C	6.37:g.84883776T>G			84940495	NM_014895		Silent	SNP	ENST00000403245.3	37	CCDS34494.2																																																																																				0.378	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
HTR1E	3354	broad.mit.edu	37	6	87725621	87725621	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:87725621C>T	ENST00000305344.5	+	2	1272	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	190					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A190V(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACGCTGGGTGCGTTTTATATC	0.517																																					p.A190V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569T	6						.						107.0	102.0	103.0					6																	87725621		2203	4300	6503	87782340	SO:0001583	missense	3354	exon2				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.569C>T	6.37:g.87725621C>T	ENSP00000307766:p.Ala190Val		87782340	NM_000865	E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224591	0.79576	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.72394	-0.65;-0.65	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000010	T	0.81456	0.4826	M	0.79123	2.44	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.85057	0.0932	10	0.87932	D	0	.	16.8055	0.85626	0.0:1.0:0.0:0.0	.	190	P28566	5HT1E_HUMAN	V	190	ENSP00000307766:A190V;ENSP00000358597:A190V	ENSP00000307766:A190V	A	+	2	0	HTR1E	87782340	1.000000	0.71417	0.970000	0.41538	0.860000	0.49131	7.320000	0.79064	1.966000	0.57179	0.404000	0.27445	GCG		0.517	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
ZNF292	23036	broad.mit.edu	37	6	87968782	87968782	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:87968782T>G	ENST00000369577.3	+	8	5478	c.5435T>G	c.(5434-5436)tTt>tGt	p.F1812C	ZNF292_ENST00000339907.4_Missense_Mutation_p.F1807C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1812						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.F1812C(1)|p.F1667C(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)		TCTTCTCCGTTTTCCTCCTTT	0.358																																					p.F1812C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5435G	6						.						31.0	32.0	31.0					6																	87968782		1844	4085	5929	88025501	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.5435T>G	6.37:g.87968782T>G	ENSP00000358590:p.Phe1812Cys		88025501	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	0.053	-1.243632	0.01481	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06768	3.26;3.27	5.86	4.69	0.59074	.	0.368498	0.26776	N	0.022556	T	0.01558	0.0050	N	0.12182	0.205	0.28904	N	0.893112	B	0.10296	0.003	B	0.08055	0.003	T	0.42982	-0.9419	10	0.45353	T	0.12	.	7.7692	0.28997	0.1346:0.0:0.1498:0.7156	.	1812	O60281	ZN292_HUMAN	C	1812;1807	ENSP00000358590:F1812C;ENSP00000342847:F1807C	ENSP00000342847:F1807C	F	+	2	0	ZNF292	88025501	1.000000	0.71417	0.999000	0.59377	0.075000	0.17131	3.404000	0.52623	1.131000	0.42111	0.528000	0.53228	TTT		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
C6orf165	154313	broad.mit.edu	37	6	88123597	88123597	+	Missense_Mutation	SNP	G	G	A	rs377042908		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:88123597G>A	ENST00000507897.1	+	4	345	c.262G>A	c.(262-264)Gat>Aat	p.D88N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.D88N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	88								p.D88N(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		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;0.0419)		AGTCTACTTCGATATGAATTA	0.338																																					p.D88N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G262A	6						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	88.0	83.0	84.0		262	5.3	1.0	6		84	0,8594		0,0,4297	no	missense	C6orf165	NM_001031743.2	23	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	88/623	88123597	1,12999	2203	4297	6500	88180316	SO:0001583	missense	154313	exon4			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.262G>A	6.37:g.88123597G>A	ENSP00000426769:p.Asp88Asn		88180316	NM_001031743	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066300	0.55539	2.27E-4	0.0	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.28895	1.59;1.59	5.32	5.32	0.75619	.	0.221960	0.44097	D	0.000500	T	0.33614	0.0869	M	0.81942	2.565	0.44754	D	0.997755	D;D	0.59767	0.986;0.963	P;B	0.45406	0.479;0.363	T	0.33675	-0.9859	10	0.44086	T	0.13	.	18.5957	0.91228	0.0:0.0:1.0:0.0	.	88;88	Q8IYR0;E1P509	CF165_HUMAN;.	N	88	ENSP00000358575:D88N;ENSP00000422494:D88N	ENSP00000358575:D88N	D	+	1	0	C6orf165	88180316	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	5.879000	0.69690	2.484000	0.83849	0.484000	0.47621	GAT		0.338	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
RARS2	57038	broad.mit.edu	37	6	88258341	88258341	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:88258341A>C	ENST00000369536.5	-	6	464	c.419T>G	c.(418-420)tTt>tGt	p.F140C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	140					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.F140C(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)		TCCAACATGAAATTTTTTGGC	0.328																																					p.F140C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T419G	6						.						75.0	71.0	72.0					6																	88258341		2203	4300	6503	88315060	SO:0001583	missense	57038	exon6			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.419T>G	6.37:g.88258341A>C	ENSP00000358549:p.Phe140Cys		88315060	NM_020320	B2RDT7|Q96FU5|Q9H8K8	De_novo_Start_OutOfFrame	SNP	ENST00000369536.5	37	CCDS5011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.067010|4.067010	0.76301|0.76301	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000369536;ENST00000369523|ENST00000451155	T|T	0.64991|0.62788	-0.13|-0.0	5.63|5.63	5.63|5.63	0.86233|0.86233	Aminoacyl-tRNA synthetase, class I, conserved site (1);Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);|.	0.046236|0.046236	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.83792|0.83792	0.5331|0.5331	H|H	0.96996|0.96996	3.92|3.92	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89177|0.89177	0.3541|0.3541	10|8	0.87932|0.72032	D|D	0|0.01	.|.	15.106|15.106	0.72322|0.72322	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	140|.	Q5T160|.	SYRM_HUMAN|.	C|V	140;167|168	ENSP00000358549:F140C|ENSP00000389656:F168V	ENSP00000358536:F167C|ENSP00000389656:F168V	F|F	-|-	2|1	0|0	RARS2|RARS2	88315060|88315060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.470000|7.470000	0.80973|0.80973	2.261000|2.261000	0.74972|0.74972	0.528000|0.528000	0.53228|0.53228	TTT|TTC		0.328	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
ORC3	23595	broad.mit.edu	37	6	88331703	88331703	+	Missense_Mutation	SNP	C	C	T	rs146416983		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:88331703C>T	ENST00000392844.3	+	11	1205	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ORC3_ENST00000417380.2_Missense_Mutation_p.A333V|ORC3_ENST00000546266.1_Missense_Mutation_p.A243V|ORC3_ENST00000257789.4_Missense_Mutation_p.A386V	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	386					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.A386V(1)		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						AAGCAAGTTGCGCTCTTGACC	0.313																																					p.A386V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1157T	6						.	C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405		0,1,2202	171.0	159.0	163.0		728,1157,1157	4.8	1.0	6	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ORC3	NM_001197259.1,NM_012381.3,NM_181837.2	64,64,64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	243/569,386/712,386/713	88331703	2,13004	2203	4300	6503	88388422	SO:0001583	missense	23595	exon11			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.1157C>T	6.37:g.88331703C>T	ENSP00000376586:p.Ala386Val		88388422	NM_012381	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087819	0.36855	2.27E-4	1.16E-4	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.13538	2.98;2.98;2.62;2.58	5.68	4.75	0.60458	.	0.360750	0.33075	N	0.005318	T	0.06096	0.0158	L	0.60455	1.87	0.37175	D	0.903222	P;P;B;P;P	0.42620	0.667;0.785;0.326;0.785;0.723	B;B;B;B;B	0.30029	0.11;0.11;0.029;0.051;0.11	T	0.22487	-1.0215	10	0.31617	T	0.26	-14.9198	13.5884	0.61944	0.2854:0.7146:0.0:0.0	.	386;386;324;386;386	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	V	386;386;243;333	ENSP00000376586:A386V;ENSP00000257789:A386V;ENSP00000444695:A243V;ENSP00000390176:A333V	ENSP00000257789:A386V	A	+	2	0	ORC3	88388422	0.888000	0.30383	0.987000	0.45799	0.690000	0.40134	0.817000	0.27281	2.838000	0.97847	0.655000	0.94253	GCG		0.313	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2		
RNGTT	8732	broad.mit.edu	37	6	89638917	89638917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:89638917C>A	ENST00000369485.4	-	3	430	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	RNGTT_ENST00000538899.1_Nonsense_Mutation_p.E22*|RNGTT_ENST00000369475.3_Nonsense_Mutation_p.E82*|RNGTT_ENST00000265607.6_Nonsense_Mutation_p.E82*	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	82	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)	p.E82*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTGATTCCTTCTTTTTCTATG	0.279																																					p.E82X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G244T	6						.						35.0	37.0	36.0					6																	89638917		2201	4288	6489	89695636	SO:0001587	stop_gained	8732	exon3			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.244G>T	6.37:g.89638917C>A	ENSP00000358497:p.Glu82*		89695636	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Nonsense_Mutation	SNP	ENST00000369485.4	37	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	C	38	7.103201	0.98066	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	.	.	.	5.52	5.52	0.82312	.	0.042580	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	.	.	.	X	82;82;22;53;82	.	ENSP00000265607:E82X	E	-	1	0	RNGTT	89695636	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.243000	0.78219	2.762000	0.94881	0.561000	0.74099	GAA		0.279	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		
RNGTT	8732	broad.mit.edu	37	6	89638934	89638934	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:89638934C>T	ENST00000369485.4	-	3	413	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	RNGTT_ENST00000538899.1_Missense_Mutation_p.R16Q|RNGTT_ENST00000369475.3_Missense_Mutation_p.R76Q|RNGTT_ENST00000265607.6_Missense_Mutation_p.R76Q	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	76	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)	p.R76Q(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TATGTCATTTCGGTCATAGAA	0.274																																					p.R76Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227A	6						.						37.0	40.0	39.0					6																	89638934		2201	4287	6488	89695653	SO:0001583	missense	8732	exon3			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.227G>A	6.37:g.89638934C>T	ENSP00000358497:p.Arg76Gln		89695653	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969095	0.74131	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	T;T;T;T	0.30448	1.95;1.95;1.96;1.53	5.82	5.82	0.92795	Dual specificity phosphatase, catalytic domain (1);	0.044341	0.85682	D	0.000000	T	0.20780	0.0500	M	0.79123	2.44	0.80722	D	1	P;P;P;P	0.51057	0.94;0.876;0.927;0.941	B;B;B;B	0.38954	0.239;0.286;0.188;0.286	T	0.06679	-1.0813	10	0.18276	T	0.48	.	14.274	0.66167	0.0:0.9292:0.0:0.0708	.	16;76;76;76	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	Q	76;76;16;47;76	ENSP00000358497:R76Q;ENSP00000265607:R76Q;ENSP00000442609:R16Q;ENSP00000358487:R76Q	ENSP00000265607:R76Q	R	-	2	0	RNGTT	89695653	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.583000	0.67484	2.762000	0.94881	0.561000	0.74099	CGA		0.274	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		
GABRR2	2570	broad.mit.edu	37	6	89967672	89967672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:89967672G>T	ENST00000402938.3	-	9	1248	c.1115C>A	c.(1114-1116)tCa>tAa	p.S372*	GABRR2_ENST00000602399.1_Nonsense_Mutation_p.S397*	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	372					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)|visual perception (GO:0007601)	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.S372*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	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)	CATGGTTTTTGAATGAAGCAT	0.527																																					p.S397X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1190A	6						.						70.0	64.0	66.0					6																	89967672		2203	4300	6503	90024391	SO:0001587	stop_gained	2570	exon9				CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1115C>A	6.37:g.89967672G>T	ENSP00000386029:p.Ser372*		90024391	NM_002043	A2BDE4|Q9H153	Nonsense_Mutation	SNP	ENST00000402938.3	37	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034306	0.54896	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.78	5.78	0.91487	.	0.253235	0.40728	N	0.001028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	.	.	.	X	397	.	.	S	-	2	0	GABRR2	90024391	0.993000	0.37304	0.118000	0.21660	0.035000	0.12851	6.360000	0.73064	2.742000	0.94016	0.650000	0.86243	TCA		0.527	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3		
ANKRD6	22881	broad.mit.edu	37	6	90331663	90331663	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:90331663G>A	ENST00000522441.1	+	10	1456	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	ANKRD6_ENST00000447838.2_Missense_Mutation_p.R272Q|LYRM2_ENST00000520441.1_Missense_Mutation_p.R70C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R272Q|ANKRD6_ENST00000369408.5_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R213Q	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	272					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R272Q(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGTCGTGGGCGAAGCCTGAGG	0.572																																					p.R272Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G815A	6						.						59.0	66.0	63.0					6																	90331663		1994	4157	6151	90388384	SO:0001583	missense	22881	exon10			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.815G>A	6.37:g.90331663G>A	ENSP00000430985:p.Arg272Gln		90388384	NM_014942	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.133390|6.133390	0.97310|0.97310	.|.	.|.	ENSG00000083099|ENSG00000135299	ENST00000520441|ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793	T|T;T;T;T	0.26223|0.70282	1.75|1.01;1.01;1.01;-0.47	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|0.000000	0.49916|0.49916	D|D	0.000130|0.000130	T|T	0.71702|0.71702	0.3371|0.3371	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.997;1.0	.|P;P;D	.|0.66351	.|0.778;0.838;0.943	T|T	0.66598|0.66598	-0.5883|-0.5883	8|10	0.72032|0.29301	D|T	0.01|0.29	-3.2404|-3.2404	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|213;272;272	.|B3KUC3;Q9Y2G4;C9JJE8	.|.;ANKR6_HUMAN;.	C|Q	70|272;272;272;213	ENSP00000427859:R70C|ENSP00000345767:R272Q;ENSP00000396771:R272Q;ENSP00000430985:R272Q;ENSP00000429782:R213Q	ENSP00000427859:R70C|ENSP00000345767:R272Q	R|R	-|+	1|2	0|0	LYRM2|ANKRD6	90388384|90388384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.417000|8.417000	0.90247|0.90247	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CGC|CGA		0.572	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1		
MDN1	23195	broad.mit.edu	37	6	90359906	90359906	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:90359906C>T	ENST00000369393.3	-	97	16158	c.16043G>A	c.(16042-16044)cGa>cAa	p.R5348Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R5348Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5348					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.R5348Q(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)		TTTCCCAGTTCGATAGTCTCC	0.353																																					p.R5348Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16043A	6						.						87.0	74.0	78.0					6																	90359906		2203	4300	6503	90416627	SO:0001583	missense	23195	exon97			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.16043G>A	6.37:g.90359906C>T	ENSP00000358400:p.Arg5348Gln		90416627	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470822	0.63625	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.40756	1.02;1.02	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000002	T	0.70081	0.3183	M	0.92026	3.265	0.58432	D	0.999995	D	0.89917	1.0	D	0.80764	0.994	T	0.76198	-0.3047	10	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	5348	Q9NU22	MDN1_HUMAN	Q	5348	ENSP00000358400:R5348Q;ENSP00000413970:R5348Q	ENSP00000358400:R5348Q	R	-	2	0	MDN1	90416627	1.000000	0.71417	0.999000	0.59377	0.839000	0.47603	7.487000	0.81328	2.771000	0.95319	0.563000	0.77884	CGA		0.353	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90397868	90397868	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:90397868G>A	ENST00000369393.3	-	67	11399	c.11284C>T	c.(11284-11286)Cgt>Tgt	p.R3762C	MDN1_ENST00000428876.1_Missense_Mutation_p.R3762C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3762					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.R3762C(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)		GGGAAACTACGAATTCTGTCC	0.443																																					p.R3762C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11284T	6						.						187.0	191.0	190.0					6																	90397868		2203	4300	6503	90454589	SO:0001583	missense	23195	exon67			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.11284C>T	6.37:g.90397868G>A	ENSP00000358400:p.Arg3762Cys		90454589	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423689	0.25639	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03242	4.0;4.0	5.95	4.17	0.49024	.	0.499130	0.20257	N	0.095946	T	0.01592	0.0051	L	0.60455	1.87	0.23754	N	0.996939	B	0.11235	0.004	B	0.04013	0.001	T	0.43814	-0.9368	10	0.41790	T	0.15	.	7.4966	0.27492	0.1288:0.0:0.6313:0.2398	.	3762	Q9NU22	MDN1_HUMAN	C	3762	ENSP00000358400:R3762C;ENSP00000413970:R3762C	ENSP00000358400:R3762C	R	-	1	0	MDN1	90454589	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.589000	0.46145	0.836000	0.34901	0.563000	0.77884	CGT		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
CASP8AP2	9994	broad.mit.edu	37	6	90572336	90572336	+	RNA	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:90572336C>T	ENST00000551025.1	+	0	2345									caspase 8 associated protein 2									p.S303L(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)		AGCAAAAGTTCGAAGTTTAAA	0.423																																					p.S303L	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C908T	6						.						127.0	130.0	129.0					6																	90572336		1872	4118	5990	90629057			9994	exon7			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.90572336C>T			90629057	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.423	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
GJA10	84694	broad.mit.edu	37	6	90605023	90605023	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:90605023G>T	ENST00000369352.1	+	1	836	c.836G>T	c.(835-837)aGa>aTa	p.R279I	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.R279I(1)		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)		TTGCCTGAAAGAATCTCTCCA	0.443																																					p.R279I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G836T	6						.						83.0	76.0	78.0					6																	90605023		2203	4300	6503	90661744	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.836G>T	6.37:g.90605023G>T	ENSP00000358358:p.Arg279Ile		90661744	NM_032602	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	5.172	0.217313	0.09810	.	.	ENSG00000135355	ENST00000369352	D	0.97811	-4.55	5.07	2.38	0.29361	.	1.710790	0.02911	N	0.136739	D	0.91676	0.7369	L	0.43152	1.355	0.09310	N	0.99999	B	0.18461	0.028	B	0.18871	0.023	D	0.83586	0.0120	10	0.35671	T	0.21	.	7.6864	0.28542	0.2171:0.1239:0.659:0.0	.	279	Q969M2	CXA10_HUMAN	I	279	ENSP00000358358:R279I	ENSP00000358358:R279I	R	+	2	0	GJA10	90661744	0.952000	0.32445	0.025000	0.17156	0.237000	0.25408	0.823000	0.27366	0.076000	0.16826	-1.255000	0.01485	AGA		0.443	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
EPHA7	2045	broad.mit.edu	37	6	94066663	94066663	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:94066663T>G	ENST00000369303.4	-	5	1280	c.1096A>C	c.(1096-1098)Aga>Cga	p.R366R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	366	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.R366R(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)		CACAATATTCTGTAGGTCACA	0.473																																					p.R366R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1096C	6						.						159.0	136.0	144.0					6																	94066663		2203	4300	6503	94123384	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.1096A>C	6.37:g.94066663T>G			94123384	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																				0.473	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
MMS22L	253714	broad.mit.edu	37	6	97626325	97626325	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:97626325G>T	ENST00000275053.4	-	18	2938	c.2673C>A	c.(2671-2673)ttC>ttA	p.F891L	MMS22L_ENST00000369251.2_Missense_Mutation_p.F851L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	891					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.F891L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATACCTCAAAGAATCGAACAA	0.274																																					p.F891L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2673A	6						.						62.0	68.0	66.0					6																	97626325		2201	4286	6487	97733046	SO:0001583	missense	253714	exon18				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.2673C>A	6.37:g.97626325G>T	ENSP00000275053:p.Phe891Leu		97733046	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108830	0.56398	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.55413	0.52;0.52	5.87	4.98	0.66077	.	0.057621	0.64402	D	0.000001	T	0.57110	0.2031	M	0.71581	2.175	0.49213	D	0.999766	D;D	0.65815	0.967;0.995	P;P	0.59948	0.725;0.866	T	0.64829	-0.6315	10	0.87932	D	0	-25.1178	10.8003	0.46485	0.2047:0.0:0.7953:0.0	.	851;891	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	L	891;851	ENSP00000275053:F891L;ENSP00000358254:F851L	ENSP00000275053:F891L	F	-	3	2	MMS22L	97733046	1.000000	0.71417	0.805000	0.32314	0.275000	0.26752	1.161000	0.31773	1.423000	0.47198	0.655000	0.94253	TTC		0.274	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
PNISR	25957	broad.mit.edu	37	6	99850449	99850449	+	Nonsense_Mutation	SNP	C	C	A	rs75982823		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:99850449C>A	ENST00000369239.5	-	11	1498	c.1294G>T	c.(1294-1296)Gaa>Taa	p.E432*	PNISR_ENST00000438806.1_Nonsense_Mutation_p.E432*	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	432						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E432*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGCTGCTGTTCTTTTTCTTTT	0.358																																					p.E432X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1294T	6						.						113.0	116.0	115.0					6																	99850449		2203	4300	6503	99957170	SO:0001587	stop_gained	25957	exon10			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1294G>T	6.37:g.99850449C>A	ENSP00000358242:p.Glu432*		99957170	NM_015491	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Nonsense_Mutation	SNP	ENST00000369239.5	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	40	8.101181	0.98654	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	432	.	ENSP00000358242:E432X	E	-	1	0	PNISR	99957170	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.016000	0.76393	2.854000	0.98071	0.655000	0.94253	GAA		0.358	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870	
ERMARD	55780	broad.mit.edu	37	6	170156848	170156848	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr6:170156848C>A	ENST00000366773.3	+	5	484	c.451C>A	c.(451-453)Ctt>Att	p.L151I	ERMARD_ENST00000366772.2_Missense_Mutation_p.L151I|ERMARD_ENST00000392095.4_Missense_Mutation_p.L25I|ERMARD_ENST00000588451.1_Missense_Mutation_p.L25I|ERMARD_ENST00000418781.3_Missense_Mutation_p.L151I	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	151					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L151I(1)									ATGCCCCTTTCTTTTAAGAGA	0.343																																					p.L151I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C451A	6						.						180.0	178.0	179.0					6																	170156848		2203	4300	6503	169898773	SO:0001583	missense	55780	exon5			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.451C>A	6.37:g.170156848C>A	ENSP00000355735:p.Leu151Ile		169898773	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486341	0.63962	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.52057	0.68;0.72	5.75	5.75	0.90469	.	0.000000	0.56097	D	0.000040	T	0.54951	0.1890	L	0.60455	1.87	0.32634	N	0.521566	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.60816	-0.7188	10	0.72032	D	0.01	.	12.1124	0.53846	0.0:0.9207:0.0:0.0793	.	151;151;151	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	I	151;151;151;25	ENSP00000355735:L151I;ENSP00000375945:L25I	ENSP00000355734:L151I	L	+	1	0	C6orf70	169898773	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	3.245000	0.51407	2.714000	0.92807	0.563000	0.77884	CTT		0.343	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
ZAN	7455	broad.mit.edu	37	7	100361699	100361699	+	RNA	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:100361699C>A	ENST00000348028.3	+	0	4312				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_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.L1383I(1)		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)			CAGCTGCATGCTTGATATGTG	0.607																																					p.L1383I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4147A	7						.						59.0	58.0	59.0					7																	100361699		2146	4259	6405	100199635			7455	exon22			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.100361699C>A			100199635	NM_173059	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	C	13.57	2.276696	0.40294	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.76839	-1.05;-1.05;-1.05	4.01	-7.18	0.01505	Uncharacterised domain, cysteine-rich (2);	1.658930	0.03909	N	0.281563	T	0.69878	0.3160	M	0.68952	2.095	0.80722	D	1	B;B	0.26744	0.131;0.158	B;B	0.26202	0.04;0.067	T	0.49716	-0.8910	10	0.44086	T	0.13	.	4.0939	0.09982	0.2797:0.3809:0.0:0.3394	.	1383;1383	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	1383	ENSP00000445943:L1383I;ENSP00000445091:L1383I;ENSP00000444427:L1383I	ENSP00000423579:L1383I	L	+	1	0	ZAN	100199635	0.000000	0.05858	0.001000	0.08648	0.630000	0.37929	-0.692000	0.05127	-1.371000	0.02141	-0.459000	0.05422	CTT		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
ZAN	7455	broad.mit.edu	37	7	100363076	100363076	+	RNA	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:100363076G>A	ENST00000348028.3	+	0	4534				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_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.V1457M(1)		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)			AGACCGGTGCGTGGAGGCCTG	0.607																																					p.V1457M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4369A	7						.						51.0	54.0	53.0					7																	100363076		2117	4245	6362	100201012			7455	exon23			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.100363076G>A			100201012	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	18.40	3.616060	0.66672	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	3.99	-0.17	0.13335	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.900295	0.09165	N	0.839649	D	0.89856	0.6836	M	0.77406	2.37	0.09310	N	0.999992	P;P	0.48911	0.899;0.917	B;B	0.44133	0.314;0.442	T	0.80763	-0.1237	10	0.59425	D	0.04	.	0.8047	0.01082	0.2226:0.1875:0.3977:0.1922	.	1457;1457	F5H0T8;Q9Y493	.;ZAN_HUMAN	M	1457;1457;1457;34	ENSP00000445943:V1457M;ENSP00000445091:V1457M;ENSP00000444427:V1457M;ENSP00000441117:V34M	ENSP00000423579:V1457M	V	+	1	0	ZAN	100201012	0.078000	0.21339	0.156000	0.22583	0.681000	0.39784	0.511000	0.22739	0.064000	0.16427	0.462000	0.41574	GTG		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
ZAN	7455	broad.mit.edu	37	7	100366274	100366274	+	RNA	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:100366274G>A	ENST00000348028.3	+	0	5248				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_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.D1695N(1)		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)			CCTGCGCCCCGACAGAAAGCT	0.607																																					p.D1695N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5083A	7						.						28.0	28.0	28.0					7																	100366274		1861	4104	5965	100204210			7455	exon27			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.100366274G>A			100204210	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	14.73	2.622512	0.46840	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.77	0.763	0.18459	von Willebrand factor, type D domain (3);	0.623617	0.14201	N	0.334668	T	0.41236	0.1150	L	0.41356	1.27	0.09310	N	1	P;P	0.44309	0.798;0.832	B;B	0.41440	0.243;0.357	T	0.21449	-1.0245	10	0.31617	T	0.26	.	2.0801	0.03633	0.1807:0.1549:0.5047:0.1598	.	1695;1695	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1695;1695;1695;272	ENSP00000445943:D1695N;ENSP00000445091:D1695N;ENSP00000444427:D1695N;ENSP00000441117:D272N	ENSP00000423579:D1695N	D	+	1	0	ZAN	100204210	0.037000	0.19845	0.000000	0.03702	0.006000	0.05464	0.794000	0.26958	0.020000	0.15106	0.655000	0.94253	GAC		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
MUC17	140453	broad.mit.edu	37	7	100684394	100684394	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:100684394C>T	ENST00000306151.4	+	3	9761	c.9697C>T	c.(9697-9699)Ccg>Tcg	p.P3233S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3233	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P3233S(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)					CAGCAACACGCCGGTGGCCAG	0.493																																					p.P3233S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9697T	7						.						257.0	264.0	261.0					7																	100684394		2203	4300	6503	100471114	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.9697C>T	7.37:g.100684394C>T	ENSP00000302716:p.Pro3233Ser		100471114	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	3.976	-0.007391	0.07773	.	.	ENSG00000169876	ENST00000306151	T	0.06294	3.32	0.976	-1.64	0.08318	.	.	.	.	.	T	0.03651	0.0104	N	0.24115	0.695	0.09310	N	1	P	0.47604	0.898	B	0.44108	0.441	T	0.20207	-1.0282	9	0.06099	T	0.92	.	5.0511	0.14508	0.0:0.3848:0.0:0.6151	.	3233	Q685J3	MUC17_HUMAN	S	3233	ENSP00000302716:P3233S	ENSP00000302716:P3233S	P	+	1	0	MUC17	100471114	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-3.086000	0.00611	-0.535000	0.06307	0.134000	0.15878	CCG		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100701313	100701313	+	Silent	SNP	G	G	A	rs565881797		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:100701313G>A	ENST00000306151.4	+	13	13534	c.13470G>A	c.(13468-13470)acG>acA	p.T4490T	RN7SKP54_ENST00000410704.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4490					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.T4490T(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)					AGGTAATGACGACATCATTTT	0.493																																					p.T4490T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G13470A	7						.						102.0	95.0	98.0					7																	100701313		2203	4300	6503	100488033	SO:0001819	synonymous_variant	140453	exon13			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.13470G>A	7.37:g.100701313G>A			100488033	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
CUX1	1523	broad.mit.edu	37	7	101842133	101842133	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:101842133G>T	ENST00000292535.7	+	16	1984	c.1946G>T	c.(1945-1947)aGa>aTa	p.R649I	CUX1_ENST00000550008.2_Intron|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R547I|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R660I	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	649					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R649I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCGAAACGAAGAAATGGGTCT	0.458																																					p.R649I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1946T	7						.						134.0	117.0	123.0					7																	101842133		2203	4300	6503	101628853	SO:0001583	missense	1523	exon16			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1946G>T	7.37:g.101842133G>T	ENSP00000292535:p.Arg649Ile		101628853	NM_181552	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934390	0.92458	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000546411	T;T;T	0.62232	0.05;0.05;0.04	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.69884	-0.5024	10	0.21540	T	0.41	-20.3199	19.1191	0.93355	0.0:0.0:1.0:0.0	.	649;660	P39880;P39880-3	CUX1_HUMAN;.	I	660;649;547	ENSP00000353401:R660I;ENSP00000292535:R649I;ENSP00000450125:R547I	ENSP00000292535:R649I	R	+	2	0	CUX1	101628853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.913000	0.92730	2.837000	0.97791	0.655000	0.94253	AGA		0.458	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
LRRC17	10234	broad.mit.edu	37	7	102574404	102574404	+	Missense_Mutation	SNP	C	C	T	rs376246276		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:102574404C>T	ENST00000339431.4	+	2	339	c.44C>T	c.(43-45)gCg>gTg	p.A15V	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.A15V|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	15					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.A15V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTTTGCAAAGCGGCTGAGCTG	0.547																																					p.A15V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C44T	7						.	C	VAL/ALA,,VAL/ALA,	0,4406		0,0,2203	45.0	42.0	43.0		44,,44,	5.8	1.0	7		43	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense,intron	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	64,,64,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,,benign,	15/442,,15/314,	102574404	2,13004	2203	4300	6503	102361640	SO:0001583	missense	10234	exon2			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.44C>T	7.37:g.102574404C>T	ENSP00000344242:p.Ala15Val		102361640	NM_005824	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884741	0.72410	0.0	2.33E-4	ENSG00000128606	ENST00000339431;ENST00000249377;ENST00000455453	T;T;T	0.62941	0.25;-0.01;0.79	5.77	5.77	0.91146	.	0.326193	0.25925	N	0.027404	T	0.51770	0.1694	L	0.56769	1.78	0.44123	D	0.996901	P;P	0.45240	0.571;0.854	B;B	0.26517	0.032;0.07	T	0.62329	-0.6877	10	0.72032	D	0.01	-11.8535	13.5467	0.61709	0.0:0.9288:0.0:0.0712	.	15;15	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	V	15	ENSP00000344242:A15V;ENSP00000249377:A15V;ENSP00000394194:A15V	ENSP00000249377:A15V	A	+	2	0	LRRC17	102361640	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	4.078000	0.57606	2.890000	0.99128	0.650000	0.86243	GCG		0.547	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	
SLC26A5	375611	broad.mit.edu	37	7	103018951	103018951	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:103018951C>T	ENST00000306312.3	-	17	1988	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	SLC26A5_ENST00000354356.4_Missense_Mutation_p.R9Q|SLC26A5_ENST00000393723.1_Missense_Mutation_p.R544Q|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R544Q|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R576Q|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R544Q|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R539Q|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R576Q	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	576	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.R576Q(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGCGTACTTCCGCATGGCCTT	0.468																																					p.R576Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1727A	7						.						273.0	215.0	235.0					7																	103018951		2203	4300	6503	102806187	SO:0001583	missense	375611	exon17			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1727G>A	7.37:g.103018951C>T	ENSP00000304783:p.Arg576Gln		102806187	NM_206883	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210018	0.58343	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.96396	-3.16;-3.2;-3.22;-3.22;-4.0;-3.14;-3.19;-3.2	5.31	-3.12	0.05282	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.250497	0.42420	D	0.000713	D	0.89928	0.6857	N	0.19112	0.55	0.22918	N	0.998563	B;B;B	0.24258	0.012;0.1;0.082	B;B;B	0.24269	0.029;0.052;0.031	T	0.80991	-0.1135	10	0.59425	D	0.04	.	10.5208	0.44918	0.0:0.5461:0.0:0.4539	.	576;544;576	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	Q	576;576;544;544;9;539;576;544	ENSP00000342396:R576Q;ENSP00000304783:R576Q;ENSP00000377331:R544Q;ENSP00000389733:R544Q;ENSP00000346325:R9Q;ENSP00000377330:R539Q;ENSP00000377328:R576Q;ENSP00000377324:R544Q	ENSP00000304783:R576Q	R	-	2	0	SLC26A5	102806187	0.943000	0.32029	0.953000	0.39169	0.984000	0.73092	-0.226000	0.09139	-0.562000	0.06086	0.644000	0.83932	CGG		0.468	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
RELN	5649	broad.mit.edu	37	7	103230055	103230055	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:103230055G>A	ENST00000428762.1	-	28	4292	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F	RELN_ENST00000424685.2_Missense_Mutation_p.S1378F|RELN_ENST00000343529.5_Missense_Mutation_p.S1378F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1378					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.S1378F(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)		GGATGCAAGAGACCTTGGAAT	0.408																																					p.S1378F	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4133T	7						.						189.0	171.0	177.0					7																	103230055		2203	4300	6503	103017291	SO:0001583	missense	5649	exon28				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.4133C>T	7.37:g.103230055G>A	ENSP00000392423:p.Ser1378Phe		103017291	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851152	0.71719	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41758	0.99;1.81;0.99	5.48	4.58	0.56647	.	0.252260	0.41938	D	0.000799	T	0.60881	0.2303	L	0.58101	1.795	0.41851	D	0.990173	D;D	0.71674	0.998;0.996	D;D	0.73380	0.936;0.98	T	0.66188	-0.5986	10	0.87932	D	0	.	15.8878	0.79264	0.0:0.0:0.8633:0.1367	.	1378;1378	P78509-2;P78509	.;RELN_HUMAN	F	1378	ENSP00000392423:S1378F;ENSP00000345694:S1378F;ENSP00000388446:S1378F	ENSP00000345694:S1378F	S	-	2	0	RELN	103017291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.685000	0.74543	1.427000	0.47276	0.563000	0.77884	TCT		0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
PUS7	54517	broad.mit.edu	37	7	105105785	105105785	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:105105785G>A	ENST00000356362.2	-	13	1816	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	PUS7_ENST00000469408.1_Silent_p.F534F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	534	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.F534F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AGATAACATCGAAACCAGGCA	0.343																																					p.F534F	Colon(138;2387 3051 17860)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1602T	7						.						116.0	106.0	110.0					7																	105105785		2203	4300	6503	104893021	SO:0001819	synonymous_variant	54517	exon13			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1602C>T	7.37:g.105105785G>A			104893021	NM_019042	Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	CCDS34725.1																																																																																				0.343	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042	
RINT1	60561	broad.mit.edu	37	7	105182891	105182891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:105182891C>T	ENST00000257700.2	+	4	541	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	104					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R104*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TAAAAGAATTCGAAGTGCCTT	0.328																																					p.R104X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C310T	7						.						59.0	64.0	62.0					7																	105182891		2202	4300	6502	104970127	SO:0001587	stop_gained	60561	exon4			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.310C>T	7.37:g.105182891C>T	ENSP00000257700:p.Arg104*		104970127	NM_021930	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Nonsense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086817	0.76642	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	.	.	.	4.63	3.74	0.42951	.	0.315890	0.35179	N	0.003399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-1.5379	14.0237	0.64573	0.1524:0.8476:0.0:0.0	.	.	.	.	X	104;73	.	ENSP00000257700:R104X	R	+	1	2	RINT1	104970127	1.000000	0.71417	0.996000	0.52242	0.849000	0.48306	2.301000	0.43628	0.904000	0.36572	0.313000	0.20887	CGA		0.328	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930	
ATXN7L1	222255	broad.mit.edu	37	7	105516266	105516266	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:105516266T>G	ENST00000419735.3	-	2	287	c.242A>C	c.(241-243)aAt>aCt	p.N81T	ATXN7L1_ENST00000318724.4_Missense_Mutation_p.N81T|ATXN7L1_ENST00000478915.1_Intron	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	81								p.N81T(1)		endometrium(1)|large_intestine(4)|lung(5)	10						ACCTTCTTTATTAAGCCTCAT	0.388																																					p.N81T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A242C	7						.						345.0	309.0	321.0					7																	105516266		2203	4300	6503	105303502	SO:0001583	missense	222255	exon2			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.242A>C	7.37:g.105516266T>G	ENSP00000410759:p.Asn81Thr		105303502	NM_020725	A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358580	0.41801	.	.	ENSG00000146776	ENST00000419735;ENST00000318724	T;T	0.26660	1.72;1.72	5.56	5.56	0.83823	.	0.081061	0.45126	D	0.000399	T	0.37156	0.0993	L	0.53249	1.67	0.80722	D	1	D;D	0.58268	0.969;0.982	P;P	0.55011	0.766;0.758	T	0.08659	-1.0711	10	0.13470	T	0.59	.	15.7079	0.77598	0.0:0.0:0.0:1.0	.	81;81	A4D0Q2;Q9ULK2	.;AT7L1_HUMAN	T	81	ENSP00000410759:N81T;ENSP00000326344:N81T	ENSP00000326344:N81T	N	-	2	0	ATXN7L1	105303502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	2.108000	0.64289	0.459000	0.35465	AAT		0.388	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2		
PIK3CG	5294	broad.mit.edu	37	7	106522569	106522569	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:106522569G>A	ENST00000359195.3	+	7	2856	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R849Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R849Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	849	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R849Q(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGATTCTACGAATCATGGAG	0.333																																					p.R849Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2546A	7						.						106.0	95.0	99.0					7																	106522569		2203	4300	6503	106309805	SO:0001583	missense	5294	exon7				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2546G>A	7.37:g.106522569G>A	ENSP00000352121:p.Arg849Gln		106309805	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982811	0.74474	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.92	5.92	0.95590	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.062472	0.64402	D	0.000003	T	0.71367	0.3331	L	0.31476	0.935	0.80722	D	1	P	0.41265	0.744	B	0.39617	0.305	T	0.70270	-0.4918	10	0.36615	T	0.2	-4.6251	20.3081	0.98638	0.0:0.0:1.0:0.0	.	849	P48736	PK3CG_HUMAN	Q	849;849;122;849	ENSP00000392258:R849Q;ENSP00000419260:R849Q;ENSP00000417623:R122Q;ENSP00000352121:R849Q	ENSP00000352121:R849Q	R	+	2	0	PIK3CG	106309805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.030000	0.64128	2.795000	0.96236	0.655000	0.94253	CGA		0.333	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
SLC26A4	5172	broad.mit.edu	37	7	107323769	107323769	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:107323769C>T	ENST00000265715.3	+	7	1112	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	296					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	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)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.I296I(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACACAAAATCCCAGTCCCTA	0.353									Pendred syndrome																												p.I296I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C888T	7						.						136.0	135.0	135.0					7																	107323769		2202	4300	6502	107111005	SO:0001819	synonymous_variant	5172	exon7	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.888C>T	7.37:g.107323769C>T			107111005	NM_000441	B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.353	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
LAMB4	22798	broad.mit.edu	37	7	107671419	107671419	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:107671419T>G	ENST00000388781.3	-	32	4907	c.4824A>C	c.(4822-4824)gaA>gaC	p.E1608D	LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388780.3_Missense_Mutation_p.E1608D|LAMB4_ENST00000205386.4_Missense_Mutation_p.E1608D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1608	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.E1608D(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						TGGTTTGATTTTCAGCCTGTT	0.418																																					p.E1608D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4824C	7						.						115.0	93.0	100.0					7																	107671419		2203	4300	6503	107458655	SO:0001583	missense	22798	exon32			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.4824A>C	7.37:g.107671419T>G	ENSP00000373433:p.Glu1608Asp		107458655	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577799	0.45902	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;D;T	0.82803	1.37;1.37;-1.65;1.41	5.01	3.84	0.44239	.	0.122719	0.36519	N	0.002549	T	0.73024	0.3534	L	0.34521	1.04	0.80722	D	1	B;B	0.30104	0.268;0.054	B;B	0.33254	0.16;0.021	T	0.65117	-0.6246	10	0.25106	T	0.35	.	8.7779	0.34774	0.0:0.0:0.191:0.809	.	1608;1608	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	D	1608;1608;634;1608	ENSP00000205386:E1608D;ENSP00000373433:E1608D;ENSP00000416562:E634D;ENSP00000373432:E1608D	ENSP00000205386:E1608D	E	-	3	2	LAMB4	107458655	0.972000	0.33761	0.730000	0.30809	0.854000	0.48673	1.375000	0.34295	0.923000	0.37045	0.477000	0.44152	GAA		0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LAMB4	22798	broad.mit.edu	37	7	107678004	107678004	+	Missense_Mutation	SNP	G	G	A	rs200882131		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:107678004G>A	ENST00000388781.3	-	30	4591	c.4508C>T	c.(4507-4509)gCg>gTg	p.A1503V	LAMB4_ENST00000483484.1_5'Flank|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1503V|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1503V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1503	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A1503V(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						CACACCATTCGCAACCTTCTC	0.393																																					p.A1503V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4508T	7						.						205.0	192.0	196.0					7																	107678004		2203	4300	6503	107465240	SO:0001583	missense	22798	exon30			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.4508C>T	7.37:g.107678004G>A	ENSP00000373433:p.Ala1503Val		107465240	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.74	3.206917	0.58343	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.46451	0.87;0.87;0.93;0.91	5.0	2.12	0.27331	.	0.000000	0.47852	D	0.000205	T	0.45377	0.1339	L	0.34521	1.04	0.80722	D	1	D;P	0.76494	0.999;0.952	D;B	0.72625	0.978;0.397	T	0.36480	-0.9746	10	0.56958	D	0.05	.	4.8298	0.13434	0.0826:0.1485:0.6151:0.1537	.	1503;1503	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	V	1503;1503;529;1503	ENSP00000205386:A1503V;ENSP00000373433:A1503V;ENSP00000416562:A529V;ENSP00000373432:A1503V	ENSP00000205386:A1503V	A	-	2	0	LAMB4	107465240	1.000000	0.71417	0.664000	0.29753	0.453000	0.32348	1.115000	0.31209	0.341000	0.23771	0.655000	0.94253	GCG		0.393	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LAMB4	22798	broad.mit.edu	37	7	107692544	107692544	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:107692544G>A	ENST00000388781.3	-	26	3997	c.3914C>T	c.(3913-3915)gCg>gTg	p.A1305V	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1305V|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1305V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1305	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A1305V(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						TCCCTTACCCGCAATGCTTGC	0.403																																					p.A1305V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3914T	7						.						167.0	157.0	161.0					7																	107692544		2203	4300	6503	107479780	SO:0001583	missense	22798	exon26			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.3914C>T	7.37:g.107692544G>A	ENSP00000373433:p.Ala1305Val		107479780	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	A	4.466	0.086299	0.08583	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.31510	1.49;1.49;1.91;1.51	5.23	-6.89	0.01660	.	2.843300	0.01610	N	0.022502	T	0.14657	0.0354	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09357	-1.0678	10	0.27785	T	0.31	.	0.5916	0.00729	0.1969:0.1986:0.2764:0.3281	.	1305;1305	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	V	1305;1305;331;1305	ENSP00000205386:A1305V;ENSP00000373433:A1305V;ENSP00000416562:A331V;ENSP00000373432:A1305V	ENSP00000205386:A1305V	A	-	2	0	LAMB4	107479780	0.005000	0.15991	0.001000	0.08648	0.053000	0.15095	-0.066000	0.11598	-1.322000	0.02278	-1.216000	0.01612	GCG		0.403	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
NRCAM	4897	broad.mit.edu	37	7	107836259	107836259	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:107836259C>A	ENST00000425651.2	-	12	1408	c.1409G>T	c.(1408-1410)aGg>aTg	p.R470M	NRCAM_ENST00000379028.3_Missense_Mutation_p.R470M|NRCAM_ENST00000413765.2_Missense_Mutation_p.R451M|NRCAM_ENST00000379024.4_Missense_Mutation_p.R451M|NRCAM_ENST00000351718.4_Missense_Mutation_p.R464M|NRCAM_ENST00000379022.4_Missense_Mutation_p.R470M	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	470	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.R464M(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TAAAGCAGGCCTGTTTGCAAT	0.403																																					p.R470M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1409T	7						.						148.0	130.0	136.0					7																	107836259		2203	4300	6503	107623495	SO:0001583	missense	4897	exon12				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1409G>T	7.37:g.107836259C>A	ENSP00000401244:p.Arg470Met		107623495	NM_001037132	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486204	0.63962	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.379952	0.32401	N	0.006144	T	0.42063	0.1186	L	0.46157	1.445	0.39441	D	0.967245	P;D;P;P;D	0.61697	0.939;0.964;0.95;0.939;0.99	P;P;P;P;P	0.61275	0.694;0.694;0.796;0.694;0.886	T	0.31861	-0.9928	10	0.49607	T	0.09	.	9.4912	0.38960	0.0:0.8425:0.0:0.1575	.	470;451;451;464;470	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	M	470;470;451;470;464;451;470;470;464	ENSP00000368314:R470M;ENSP00000407858:R451M;ENSP00000325269:R464M;ENSP00000368310:R451M;ENSP00000401244:R470M;ENSP00000368308:R470M	ENSP00000325269:R464M	R	-	2	0	NRCAM	107623495	0.897000	0.30589	1.000000	0.80357	0.987000	0.75469	1.438000	0.35002	2.413000	0.81919	0.563000	0.77884	AGG		0.403	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
C7orf66	154907	broad.mit.edu	37	7	108524294	108524294	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:108524294G>T	ENST00000379007.2	-	2	172	c.118C>A	c.(118-120)Ctt>Att	p.L40I		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	40						integral component of membrane (GO:0016021)		p.L40I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GGTGCAGAAAGAATGAGTACA	0.453																																					p.L40I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C118A	7						.						118.0	105.0	110.0					7																	108524294		2203	4300	6503	108311530	SO:0001583	missense	154907	exon2			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.118C>A	7.37:g.108524294G>T	ENSP00000368292:p.Leu40Ile		108311530	NM_001024607		Missense_Mutation	SNP	ENST00000379007.2	37	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642060	0.29157	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.69	-0.257	0.12979	.	.	.	.	.	T	0.22360	0.0539	N	0.08118	0	0.09310	N	1	D	0.54207	0.965	P	0.55785	0.784	T	0.18272	-1.0342	7	.	.	.	.	6.3269	0.21248	0.4789:0.0:0.5211:0.0	.	40	A4D0T2	CG066_HUMAN	I	40	.	.	L	-	1	0	C7orf66	108311530	0.001000	0.12720	0.000000	0.03702	0.322000	0.28314	0.311000	0.19380	-0.071000	0.12886	0.563000	0.77884	CTT		0.453	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607	
LSMEM1	286006	broad.mit.edu	37	7	112126987	112126987	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:112126987A>G	ENST00000312849.4	+	3	498	c.137A>G	c.(136-138)gAc>gGc	p.D46G	LSMEM1_ENST00000439068.2_Missense_Mutation_p.D46G|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	46						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.D46G(1)									GCTCTAGAGGACAAAATCCCA	0.443																																					p.D46G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A137G	7						.						121.0	116.0	118.0					7																	112126987		2203	4300	6503	111914223	SO:0001583	missense	286006	exon3			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.137A>G	7.37:g.112126987A>G	ENSP00000323304:p.Asp46Gly		111914223	NM_001134468	Q49AR6	Missense_Mutation	SNP	ENST00000312849.4	37	CCDS5756.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469276	0.43839	.	.	ENSG00000181016	ENST00000439068;ENST00000312849	.	.	.	4.97	4.97	0.65823	.	0.276731	0.31624	N	0.007334	T	0.43875	0.1267	N	0.22421	0.69	0.80722	D	1	B	0.22146	0.065	B	0.23574	0.047	T	0.44159	-0.9346	9	0.72032	D	0.01	-34.8313	10.9584	0.47370	1.0:0.0:0.0:0.0	.	46	Q8N8F7	CG053_HUMAN	G	46	.	ENSP00000323304:D46G	D	+	2	0	C7orf53	111914223	1.000000	0.71417	0.989000	0.46669	0.709000	0.40893	4.361000	0.59461	2.090000	0.63153	0.533000	0.62120	GAC		0.443	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597	
THSD7A	221981	broad.mit.edu	37	7	11457138	11457138	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:11457138T>G	ENST00000423059.4	-	17	3727	c.3476A>C	c.(3475-3477)aAa>aCa	p.K1159T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1159	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		GCATGGTAATTTGCACACTCT	0.433										HNSCC(18;0.044)																											p.K1159T												.	.	0			c.A3476C	7						.						78.0	76.0	77.0					7																	11457138		1889	4116	6005	11423663	SO:0001583	missense	221981	exon16				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.3476A>C	7.37:g.11457138T>G	ENSP00000406482:p.Lys1159Thr		11423663	NM_015204		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	9.482	1.098477	0.20552	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60040	0.22	5.36	5.36	0.76844	.	0.259259	0.42964	D	0.000639	T	0.38134	0.1029	N	0.17379	0.485	0.40996	D	0.984891	B	0.02656	0.0	B	0.09377	0.004	T	0.27673	-1.0067	10	0.12430	T	0.62	.	11.7419	0.51799	0.0:0.0:0.1902:0.8098	.	1159	Q9UPZ6	THS7A_HUMAN	T	1159	ENSP00000406482:K1159T	ENSP00000262042:K1159T	K	-	2	0	THSD7A	11423663	0.789000	0.28775	0.998000	0.56505	0.973000	0.67179	1.094000	0.30951	2.038000	0.60285	0.533000	0.62120	AAA		0.433	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
THSD7A	221981	broad.mit.edu	37	7	11485792	11485792	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:11485792A>G	ENST00000423059.4	-	13	3211	c.2960T>C	c.(2959-2961)gTa>gCa	p.V987A	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	987	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V987A(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)		GTCTCCTTGTACTTTCATTCC	0.438										HNSCC(18;0.044)																											p.V987A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2960C	7						.						332.0	306.0	314.0					7																	11485792		1957	4150	6107	11452317	SO:0001583	missense	221981	exon13				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.2960T>C	7.37:g.11485792A>G	ENSP00000406482:p.Val987Ala		11452317	NM_015204		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867908	0.51588	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58940	0.3	5.74	2.07	0.26955	.	0.276187	0.40554	N	0.001076	T	0.46946	0.1419	L	0.55481	1.735	0.45464	D	0.998436	B	0.13145	0.007	B	0.14023	0.01	T	0.25984	-1.0116	10	0.16896	T	0.51	.	9.5261	0.39165	0.7998:0.0:0.2002:0.0	.	987	Q9UPZ6	THS7A_HUMAN	A	987	ENSP00000406482:V987A	ENSP00000262042:V987A	V	-	2	0	THSD7A	11452317	1.000000	0.71417	0.028000	0.17463	0.927000	0.56198	4.567000	0.60850	0.116000	0.18110	0.482000	0.46254	GTA		0.438	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
PPP1R3A	5506	broad.mit.edu	37	7	113518134	113518134	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:113518134C>T	ENST00000284601.3	-	4	3081	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1005					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.E1005K(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						AGAGATTTTTCCACACTATAC	0.378																																					p.E1005K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3013A	7						.						122.0	120.0	121.0					7																	113518134		2203	4298	6501	113305370	SO:0001583	missense	5506	exon4			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.3013G>A	7.37:g.113518134C>T	ENSP00000284601:p.Glu1005Lys		113305370	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381917	0.42207	.	.	ENSG00000154415	ENST00000284601	T	0.19250	2.16	5.71	5.71	0.89125	.	0.284856	0.30051	N	0.010530	T	0.39572	0.1083	M	0.69823	2.125	0.21878	N	0.999498	D	0.56521	0.976	P	0.54815	0.761	T	0.31420	-0.9944	10	0.66056	D	0.02	-10.5	15.3413	0.74300	0.0:0.8609:0.1391:0.0	.	1005	Q16821	PPR3A_HUMAN	K	1005	ENSP00000284601:E1005K	ENSP00000284601:E1005K	E	-	1	0	PPP1R3A	113305370	0.247000	0.23920	0.605000	0.28930	0.262000	0.26303	1.376000	0.34306	2.680000	0.91292	0.650000	0.86243	GAA		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
TES	26136	broad.mit.edu	37	7	115874657	115874657	+	Missense_Mutation	SNP	G	G	A	rs199726977	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:115874657G>A	ENST00000358204.4	+	2	312	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	TES_ENST00000485009.1_3'UTR|TES_ENST00000537767.1_5'UTR|TES_ENST00000393481.2_Missense_Mutation_p.E24K	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	33	Cys-rich.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E33K(2)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGAAGGATTCGAACTGCACTT	0.368													G|||	2	0.000399361	0.0	0.0	5008	,	,		17563	0.002		0.0	False		,,,				2504	0.0				p.E33K												.	.	2	Substitution - Missense(2)	large_intestine(1)|stomach(1)	c.G97A	7						.						146.0	160.0	155.0					7																	115874657		2203	4300	6503	115661893	SO:0001583	missense	26136	exon2			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.97G>A	7.37:g.115874657G>A	ENSP00000350937:p.Glu33Lys		115661893	NM_015641	A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	CCDS5763.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	27.5	4.837497	0.91117	.	.	ENSG00000135269	ENST00000358204;ENST00000257721;ENST00000393481	T;T	0.28454	1.61;1.61	4.72	4.72	0.59763	.	0.192707	0.34802	N	0.003661	T	0.58892	0.2154	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.79	T	0.65409	-0.6175	10	0.72032	D	0.01	-6.6446	16.8348	0.85954	0.0:0.0:1.0:0.0	.	33;33	B7Z5L5;Q9UGI8	.;TES_HUMAN	K	33;33;24	ENSP00000350937:E33K;ENSP00000377121:E24K	ENSP00000257721:E33K	E	+	1	0	TES	115661893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.789000	0.85783	2.345000	0.79718	0.650000	0.86243	GAA		0.368	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641	
CAV2	858	broad.mit.edu	37	7	116140470	116140470	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:116140470C>T	ENST00000222693.4	+	2	699	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000393480.2_Missense_Mutation_p.L103F|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	103					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)	p.L103F(1)		large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			TGCGGGAATTCTCTTTGCCAC	0.552																																					p.L103F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307T	7						.						159.0	137.0	144.0					7																	116140470		2203	4300	6503	115927706	SO:0001583	missense	858	exon2			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.307C>T	7.37:g.116140470C>T	ENSP00000222693:p.Leu103Phe		115927706	NM_001233	A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753287	0.49362	.	.	ENSG00000105971	ENST00000222693;ENST00000393480	D;D	0.93019	-3.15;-3.15	5.02	3.04	0.35103	.	0.389459	0.28688	N	0.014475	D	0.89928	0.6857	L	0.53671	1.685	0.47037	D	0.999294	B	0.13145	0.007	B	0.19666	0.026	D	0.85280	0.1061	10	0.25106	T	0.35	-14.1546	11.4258	0.50009	0.1183:0.6633:0.2185:0.0	.	103	P51636	CAV2_HUMAN	F	103	ENSP00000222693:L103F;ENSP00000377120:L103F	ENSP00000222693:L103F	L	+	1	0	CAV2	115927706	0.284000	0.24287	0.919000	0.36401	0.969000	0.65631	0.201000	0.17276	1.208000	0.43306	0.563000	0.77884	CTC		0.552	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233	
MET	4233	broad.mit.edu	37	7	116417479	116417479	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:116417479A>G	ENST00000318493.6	+	16	3537	c.3350A>G	c.(3349-3351)gAc>gGc	p.D1117G	MET_ENST00000539704.1_5'UTR|MET_ENST00000397752.3_Missense_Mutation_p.D1099G			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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.D1117G(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)			ACTTTGTTGGACAATGATGGC	0.338			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.D1099G			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.A3296G	7						.						198.0	186.0	190.0					7																	116417479		1841	4086	5927	116204715	SO:0001583	missense	4233	exon16	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.3350A>G	7.37:g.116417479A>G	ENSP00000317272:p.Asp1117Gly		116204715	NM_000245	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681592	0.88542	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	D;D	0.82803	-1.65;-1.65	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.045591	0.85682	D	0.000000	D	0.84999	0.5597	N	0.20483	0.58	0.80722	D	1	P;D	0.89917	0.846;1.0	P;D	0.91635	0.706;0.999	D	0.87639	0.2521	10	0.87932	D	0	.	15.5193	0.75854	1.0:0.0:0.0:0.0	.	1117;1099	P08581-2;P08581	.;MET_HUMAN	G	1099;1117	ENSP00000380860:D1099G;ENSP00000317272:D1117G	ENSP00000317272:D1117G	D	+	2	0	MET	116204715	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.287000	0.95975	2.124000	0.65301	0.533000	0.62120	GAC		0.338	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
CFTR	1080	broad.mit.edu	37	7	117235044	117235044	+	Nonsense_Mutation	SNP	C	C	T	rs121909012		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:117235044C>T	ENST00000003084.6	+	15	2683	c.2551C>T	c.(2551-2553)Cga>Tga	p.R851*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.R790*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	851					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.R851*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CACATACCTTCGATATATTAC	0.343									Cystic Fibrosis																												p.R851X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2551T	7	GRCh37	CM910073	CFTR	M	rs121909012	.						170.0	157.0	162.0					7																	117235044		2203	4300	6503	117022280	SO:0001587	stop_gained	1080	exon15	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2551C>T	7.37:g.117235044C>T	ENSP00000003084:p.Arg851*		117022280	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	37	6.269225	0.97431	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.34	1.87	0.25490	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6658	13.7169	0.62702	0.7223:0.2777:0.0:0.0	.	.	.	.	X	851;790;821	.	ENSP00000003084:R851X	R	+	1	2	CFTR	117022280	0.998000	0.40836	0.996000	0.52242	0.605000	0.37080	1.943000	0.40253	0.650000	0.30769	-0.293000	0.09583	CGA		0.343	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CFTR	1080	broad.mit.edu	37	7	117307043	117307043	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:117307043A>C	ENST00000003084.6	+	27	4456	c.4324A>C	c.(4324-4326)Agc>Cgc	p.S1442R	CFTR_ENST00000454343.1_Missense_Mutation_p.S1381R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1442	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.S1442R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCAAGCCATCAGCCCCTCCGA	0.527									Cystic Fibrosis																												p.S1442R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4324C	7						.						54.0	48.0	50.0					7																	117307043		2203	4300	6503	117094279	SO:0001583	missense	1080	exon27	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4324A>C	7.37:g.117307043A>C	ENSP00000003084:p.Ser1442Arg		117094279	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609145	0.87258	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92397	-2.97;-2.79;-3.03	5.47	4.3	0.51218	ABC transporter-like (1);	0.035700	0.85682	D	0.000000	D	0.88822	0.6541	N	0.10945	0.07	0.80722	D	1	P	0.44521	0.837	P	0.56398	0.797	D	0.86766	0.1970	10	0.33141	T	0.24	-11.6516	10.8624	0.46833	0.9228:0.0:0.0772:0.0	.	1442	P13569	CFTR_HUMAN	R	1442;1381;1412	ENSP00000003084:S1442R;ENSP00000403677:S1381R;ENSP00000389119:S1412R	ENSP00000003084:S1442R	S	+	1	0	CFTR	117094279	1.000000	0.71417	0.997000	0.53966	0.867000	0.49689	4.686000	0.61700	0.997000	0.38969	0.455000	0.32223	AGC		0.527	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
RNF148	378925	broad.mit.edu	37	7	122342442	122342442	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:122342442C>A	ENST00000434824.1	-	1	579	c.363G>T	c.(361-363)gaG>gaT	p.E121D	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	121	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E121D(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TTGCTCCCTTCTCTGCTGCCA	0.488																																					p.E121D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G363T	7						.						243.0	240.0	241.0					7																	122342442		2028	4182	6210	122129678	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.363G>T	7.37:g.122342442C>A	ENSP00000388207:p.Glu121Asp		122129678	NM_198085	A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	C	7.774	0.708036	0.15239	.	.	ENSG00000235631	ENST00000434824	T	0.07444	3.19	4.95	2.1	0.27182	Protease-associated domain, PA (1);	.	.	.	.	T	0.06962	0.0177	L	0.43923	1.385	0.80722	D	1	B	0.09022	0.002	B	0.17433	0.018	T	0.23583	-1.0184	9	0.31617	T	0.26	.	4.727	0.12946	0.1479:0.5405:0.0:0.3116	.	121	Q8N7C7	RN148_HUMAN	D	121	ENSP00000388207:E121D	ENSP00000388207:E121D	E	-	3	2	RNF148	122129678	0.007000	0.16637	1.000000	0.80357	0.996000	0.88848	0.534000	0.23098	0.595000	0.29777	0.555000	0.69702	GAG		0.488	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085	
SLC13A1	6561	broad.mit.edu	37	7	122763254	122763254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:122763254C>A	ENST00000194130.2	-	12	1315	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	426					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.E426*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GACTGGAATTCTTTCCAAGTA	0.383																																					p.E426X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1276T	7						.						120.0	120.0	120.0					7																	122763254		2203	4300	6503	122550490	SO:0001587	stop_gained	6561	exon12				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1276G>T	7.37:g.122763254C>A	ENSP00000194130:p.Glu426*		122550490	NM_022444	Q9H5Z0	Nonsense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	37	6.482859	0.97603	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.89	5.89	0.94794	.	0.297531	0.38720	N	0.001597	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-14.7515	19.2242	0.93812	0.0:1.0:0.0:0.0	.	.	.	.	X	426	.	ENSP00000194130:E426X	E	-	1	0	SLC13A1	122550490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.566000	0.67372	2.791000	0.96007	0.591000	0.81541	GAA		0.383	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
IQUB	154865	broad.mit.edu	37	7	123104957	123104957	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:123104957C>A	ENST00000466202.1	-	10	2264	c.1688G>T	c.(1687-1689)aGa>aTa	p.R563I	IQUB_ENST00000434450.1_Missense_Mutation_p.R563I|IQUB_ENST00000324698.6_Missense_Mutation_p.R563I	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	563					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.R563I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTCGCAATTCTTTTTCTGAG	0.333																																					p.R563I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1688T	7						.						133.0	145.0	141.0					7																	123104957		2202	4298	6500	122892193	SO:0001583	missense	154865	exon10			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.1688G>T	7.37:g.123104957C>A	ENSP00000417769:p.Arg563Ile		122892193	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871660	0.91587	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.72725	0.38;0.38;-0.68	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.88440	0.6437	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90842	0.4724	10	0.87932	D	0	.	19.3499	0.94379	0.0:1.0:0.0:0.0	.	563;563	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	I	563	ENSP00000417769:R563I;ENSP00000324882:R563I;ENSP00000388498:R563I	ENSP00000324882:R563I	R	-	2	0	IQUB	122892193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.091000	0.76923	2.654000	0.90174	0.579000	0.79373	AGA		0.333	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
IQUB	154865	broad.mit.edu	37	7	123152251	123152251	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:123152251T>G	ENST00000466202.1	-	2	720	c.144A>C	c.(142-144)ggA>ggC	p.G48G	IQUB_ENST00000434450.1_Silent_p.G48G|IQUB_ENST00000324698.6_Silent_p.G48G|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	48					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.G48G(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATTGTTCTATTCCAGATTCAT	0.428																																					p.G48G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A144C	7						.						214.0	186.0	195.0					7																	123152251		2203	4300	6503	122939487	SO:0001819	synonymous_variant	154865	exon2			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.144A>C	7.37:g.123152251T>G			122939487	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	CCDS5787.1																																																																																				0.428	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
ASB15	142685	broad.mit.edu	37	7	123256420	123256420	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:123256420C>A	ENST00000451558.1	+	8	684	c.163C>A	c.(163-165)Cac>Aac	p.H55N	ASB15_ENST00000275699.3_Missense_Mutation_p.H55N|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.H55N|ASB15_ENST00000434204.1_Missense_Mutation_p.H55N|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.H55N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	55					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.H55N(2)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TAATTTAGGTCACATTCCTGA	0.388																																					p.H55N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C163A	7						.						111.0	109.0	109.0					7																	123256420		2203	4300	6503	123043656	SO:0001583	missense	142685	exon4			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.163C>A	7.37:g.123256420C>A	ENSP00000397655:p.His55Asn		123043656	NM_080928	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344821	0.41498	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	T;T;T;T;T;T;T	0.52057	2.29;2.29;1.06;2.29;2.29;0.68;2.29	5.94	5.04	0.67666	Ankyrin repeat-containing domain (3);	0.351640	0.27609	N	0.018611	T	0.30070	0.0753	N	0.13140	0.3	0.34674	D	0.724044	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.27785	T	0.31	-9.2838	11.5799	0.50885	0.1405:0.7244:0.1351:0.0	.	55	Q8WXK1	ASB15_HUMAN	N	55	ENSP00000397655:H55N;ENSP00000390963:H55N;ENSP00000406163:H55N;ENSP00000416433:H55N;ENSP00000438643:H55N;ENSP00000401166:H55N;ENSP00000275699:H55N	ENSP00000275699:H55N	H	+	1	0	ASB15	123043656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.373000	0.34272	1.481000	0.48307	0.557000	0.71058	CAC		0.388	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1		
ASB15	142685	broad.mit.edu	37	7	123269246	123269246	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:123269246C>A	ENST00000451558.1	+	12	1719	c.1198C>A	c.(1198-1200)Ctc>Atc	p.L400I	ASB15_ENST00000275699.3_Missense_Mutation_p.L400I|ASB15_ENST00000540573.1_Missense_Mutation_p.L400I|ASB15_ENST00000434204.1_Missense_Mutation_p.L400I|ASB15_ENST00000451215.1_Missense_Mutation_p.L400I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	400					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L400I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGGCTGCTTCTCTCCCATGG	0.443																																					p.L400I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1198A	7						.						123.0	107.0	112.0					7																	123269246		2203	4300	6503	123056482	SO:0001583	missense	142685	exon8			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1198C>A	7.37:g.123269246C>A	ENSP00000397655:p.Leu400Ile		123056482	NM_080928	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815883	0.70912	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	6.06	6.06	0.98353	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000006	T	0.21921	0.0528	N	0.25245	0.725	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.04090	-1.0978	10	0.17832	T	0.49	-28.668	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	400	Q8WXK1	ASB15_HUMAN	I	400;400;400;400;189;400	ENSP00000397655:L400I;ENSP00000390963:L400I;ENSP00000416433:L400I;ENSP00000438643:L400I;ENSP00000275699:L400I	ENSP00000275699:L400I	L	+	1	0	ASB15	123056482	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	4.668000	0.61568	2.882000	0.98803	0.655000	0.94253	CTC		0.443	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1		
HYAL4	23553	broad.mit.edu	37	7	123508775	123508775	+	Nonsense_Mutation	SNP	C	C	T	rs144025222		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:123508775C>T	ENST00000223026.4	+	3	1086	c.448C>T	c.(448-450)Cga>Tga	p.R150*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.R150*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	150					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.R150*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGAATATTGGCGACCACAGTG	0.393																																					p.R150X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C448T	7						.	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	84.0	82.0		448	0.1	0.9	7	dbSNP_134	82	0,8600		0,0,4300	no	stop-gained	HYAL4	NM_012269.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		150/482	123508775	1,13005	2203	4300	6503	123296011	SO:0001587	stop_gained	23553	exon3			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.448C>T	7.37:g.123508775C>T	ENSP00000223026:p.Arg150*		123296011	NM_012269	D0VXG1|Q9UL99|Q9Y6T9	Nonsense_Mutation	SNP	ENST00000223026.4	37	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221355	0.22457	2.27E-4	0.0	ENSG00000106302	ENST00000223026;ENST00000476325	.	.	.	5.73	0.0593	0.14331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.2876	10.8842	0.46957	0.6207:0.3052:0.0:0.074	.	.	.	.	X	150	.	.	R	+	1	2	HYAL4	123296011	1.000000	0.71417	0.944000	0.38274	0.002000	0.02628	0.933000	0.28897	-0.213000	0.10094	-0.894000	0.02916	CGA		0.393	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269	
GPR37	2861	broad.mit.edu	37	7	124387012	124387012	+	Missense_Mutation	SNP	C	C	T	rs375795394		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:124387012C>T	ENST00000303921.2	-	2	2059	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	470					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.R470H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTGCTTTGCGGATTTTCCT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20283	0.0		0.0	False		,,,				2504	0.0				p.R470H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1409A	7						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	108.0	110.0		1409	5.7	1.0	7		110	0,8600		0,0,4300	no	missense	GPR37	NM_005302.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	470/614	124387012	1,13005	2203	4300	6503	124174248	SO:0001583	missense	2861	exon2				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1409G>A	7.37:g.124387012C>T	ENSP00000306449:p.Arg470His		124174248	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084827	0.55861	2.27E-4	0.0	ENSG00000170775	ENST00000303921	T	0.42513	0.97	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.106913	0.40144	N	0.001180	T	0.39009	0.1062	M	0.62723	1.935	0.43110	D	0.99481	P	0.47350	0.894	B	0.37780	0.258	T	0.40831	-0.9542	10	0.51188	T	0.08	-25.7451	12.2386	0.54530	0.0:0.9229:0.0:0.0771	.	470	O15354	GPR37_HUMAN	H	470	ENSP00000306449:R470H	ENSP00000306449:R470H	R	-	2	0	GPR37	124174248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.031000	0.57267	2.698000	0.92095	0.655000	0.94253	CGC		0.463	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
PAX4	5078	broad.mit.edu	37	7	127253086	127253086	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:127253086C>A	ENST00000341640.2	-	6	886	c.681G>T	c.(679-681)atG>atT	p.M227I	PAX4_ENST00000338516.3_Missense_Mutation_p.M235I|PAX4_ENST00000378740.2_Missense_Mutation_p.M227I|PAX4_ENST00000463946.1_Missense_Mutation_p.M225I	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	235					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001206)	p.M227I(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGGCAGCTGCATTTCCCACT	0.522																																					p.M227I	Ovarian(113;737 1605 7858 27720 34092)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G681T	7						.						269.0	194.0	219.0					7																	127253086		2203	4300	6503	127040322	SO:0001583	missense	5078	exon6				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.681G>T	7.37:g.127253086C>A	ENSP00000339906:p.Met227Ile		127040322	NM_006193	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232746	0.39498	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.95238	-3.65;-3.65;-3.65	5.06	0.947	0.19555	Homeodomain-like (1);	2.683750	0.02076	U	0.051921	D	0.92093	0.7494	L	0.52573	1.65	0.23969	N	0.996311	B;B;B;B	0.29909	0.164;0.167;0.121;0.261	B;B;B;B	0.36186	0.069;0.034;0.025;0.219	T	0.79722	-0.1684	10	0.31617	T	0.26	.	2.8606	0.05585	0.1439:0.5359:0.1411:0.1791	.	227;225;235;225	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	I	227;235;235;225	ENSP00000339906:M227I;ENSP00000344297:M235I;ENSP00000451923:M225I	ENSP00000344297:M235I	M	-	3	0	PAX4	127040322	0.923000	0.31300	0.993000	0.49108	0.954000	0.61252	1.180000	0.32005	0.643000	0.30638	0.555000	0.69702	ATG		0.522	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
TSPAN33	340348	broad.mit.edu	37	7	128807702	128807702	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:128807702A>G	ENST00000289407.4	+	8	948	c.839A>G	c.(838-840)gAc>gGc	p.D280G	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	280					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.D280G(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CACCGGGCTGACCCATGGTAC	0.522																																					p.D280G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A839G	7						.						76.0	66.0	70.0					7																	128807702		2203	4300	6503	128594938	SO:0001583	missense	340348	exon8				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.839A>G	7.37:g.128807702A>G	ENSP00000289407:p.Asp280Gly		128594938	NM_178562		Missense_Mutation	SNP	ENST00000289407.4	37	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239723	0.79800	.	.	ENSG00000158457	ENST00000289407	T	0.32753	1.44	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.49542	-0.8929	10	0.59425	D	0.04	-34.1025	13.8116	0.63266	1.0:0.0:0.0:0.0	.	280	Q86UF1	TSN33_HUMAN	G	280	ENSP00000289407:D280G	ENSP00000289407:D280G	D	+	2	0	TSPAN33	128594938	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.455000	0.90355	2.144000	0.66660	0.533000	0.62120	GAC		0.522	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562	
CPA4	51200	broad.mit.edu	37	7	129948167	129948167	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:129948167G>A	ENST00000222482.4	+	8	751	c.723G>A	c.(721-723)acG>acA	p.T241T	CPA4_ENST00000493259.1_Silent_p.T137T|CPA4_ENST00000445470.2_Silent_p.T208T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	241					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T241T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GGAGGAAGACGCGGTCCCGAA	0.532																																					p.T208T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G624A	7						.						96.0	89.0	91.0					7																	129948167		2203	4300	6503	129735403	SO:0001819	synonymous_variant	51200	exon7			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.723G>A	7.37:g.129948167G>A			129735403	NM_001163446	B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	CCDS5818.1																																																																																				0.532	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352	
TSGA13	114960	broad.mit.edu	37	7	130364109	130364109	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:130364109C>A	ENST00000456951.1	-	6	1122	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	TSGA13_ENST00000356588.3_Missense_Mutation_p.D91Y			Q96PP4	TSG13_HUMAN	testis specific, 13	91								p.D91Y(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TTATCCTGGTCATACTGTGTT	0.443																																					p.D91Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271T	7						.						278.0	236.0	250.0					7																	130364109		2203	4300	6503	130014649	SO:0001583	missense	114960	exon5			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.271G>T	7.37:g.130364109C>A	ENSP00000406047:p.Asp91Tyr		130014649	NM_052933	B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660460	0.67586	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	4.98	4.98	0.66077	.	0.000000	0.49916	D	0.000129	T	0.66694	0.2815	L	0.36672	1.1	0.39636	D	0.97024	D	0.89917	1.0	D	0.97110	1.0	T	0.70193	-0.4939	9	0.72032	D	0.01	-14.881	13.6307	0.62193	0.0:1.0:0.0:0.0	.	91	Q96PP4	TSG13_HUMAN	Y	91	.	ENSP00000348996:D91Y	D	-	1	0	TSGA13	130014649	0.911000	0.30947	1.000000	0.80357	0.775000	0.43874	2.174000	0.42482	2.594000	0.87642	0.467000	0.42956	GAC		0.443	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933	
PLXNA4	91584	broad.mit.edu	37	7	131817920	131817920	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:131817920T>C	ENST00000359827.3	-	31	6439	c.5477A>G	c.(5476-5478)gAc>gGc	p.D1826G	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1826G			Q9HCM2	PLXA4_HUMAN	plexin A4	1826					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.D1826G(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATGTCTTGGTCGCTGATGGC	0.502																																					p.D1826G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5477G	7						.						144.0	145.0	145.0					7																	131817920		2198	4300	6498	131468460	SO:0001583	missense	91584	exon31			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.5477A>G	7.37:g.131817920T>C	ENSP00000352882:p.Asp1826Gly		131468460	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.915880	0.92178	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.19938	2.11;2.11	5.51	5.51	0.81932	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.60424	-0.7266	10	0.62326	D	0.03	.	15.6181	0.76784	0.0:0.0:0.0:1.0	.	1826	Q9HCM2	PLXA4_HUMAN	G	1826	ENSP00000323194:D1826G;ENSP00000352882:D1826G	ENSP00000323194:D1826G	D	-	2	0	PLXNA4	131468460	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.961000	0.87903	2.109000	0.64355	0.459000	0.35465	GAC		0.502	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
SLC35B4	84912	broad.mit.edu	37	7	133981195	133981195	+	Missense_Mutation	SNP	C	C	T	rs374056103		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:133981195C>T	ENST00000378509.4	-	9	996	c.697G>A	c.(697-699)Gga>Aga	p.G233R	SLC35B4_ENST00000466599.1_5'Flank	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	233					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)	p.G233R(1)		large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						AGGGTCACTCCGATGACGGGA	0.418																																					p.G233R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	7						.	C	ARG/GLY	0,4406		0,0,2203	143.0	115.0	124.0		697	5.9	0.1	7		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35B4	NM_032826.4	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	233/332	133981195	1,13005	2203	4300	6503	133631735	SO:0001583	missense	84912	exon9			AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.697G>A	7.37:g.133981195C>T	ENSP00000367770:p.Gly233Arg		133631735	NM_032826	A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	37	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654564	0.67472	0.0	1.16E-4	ENSG00000205060	ENST00000378509	.	.	.	5.91	5.91	0.95273	.	0.049232	0.85682	D	0.000000	T	0.60983	0.2311	L	0.60845	1.875	0.80722	D	1	P;P	0.49307	0.922;0.803	B;P	0.45998	0.366;0.5	T	0.55159	-0.8184	9	0.20046	T	0.44	-5.8398	19.8934	0.96939	0.0:1.0:0.0:0.0	.	233;233	Q969S0-3;Q969S0	.;S35B4_HUMAN	R	233	.	ENSP00000367770:G233R	G	-	1	0	SLC35B4	133631735	0.999000	0.42202	0.094000	0.20943	0.006000	0.05464	5.230000	0.65321	2.802000	0.96397	0.655000	0.94253	GGA		0.418	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826	
AKR1B1	231	broad.mit.edu	37	7	134132761	134132761	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:134132761C>T	ENST00000285930.4	-	7	791	c.712G>A	c.(712-714)Gca>Aca	p.A238T	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	238					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.A238T(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	TGCTTGGCTGCGATCGCCTTG	0.557																																					p.A238T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	7						.						147.0	112.0	124.0					7																	134132761		2203	4300	6503	133783301	SO:0001583	missense	231	exon7			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.712G>A	7.37:g.134132761C>T	ENSP00000285930:p.Ala238Thr		133783301	NM_001628	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124285	0.94429	.	.	ENSG00000085662	ENST00000285930	T	0.34072	1.38	4.98	4.98	0.66077	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	H	0.97783	4.075	0.80722	D	1	P	0.52692	0.955	P	0.55615	0.78	T	0.83351	-0.0003	10	0.87932	D	0	.	17.6059	0.88037	0.0:1.0:0.0:0.0	.	238	P15121	ALDR_HUMAN	T	238	ENSP00000285930:A238T	ENSP00000285930:A238T	A	-	1	0	AKR1B1	133783301	1.000000	0.71417	0.331000	0.25455	0.921000	0.55340	7.401000	0.79962	2.470000	0.83445	0.561000	0.74099	GCA		0.557	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628	
CALD1	800	broad.mit.edu	37	7	134642862	134642862	+	Splice_Site	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:134642862A>C	ENST00000361675.2	+	10	2207	c.1978A>C	c.(1978-1980)Agc>Cgc	p.S660R	CALD1_ENST00000495522.1_Splice_Site_p.S425R|CALD1_ENST00000393118.2_Splice_Site_p.S425R|CALD1_ENST00000422748.1_Splice_Site_p.S431R|CALD1_ENST00000543443.1_Splice_Site_p.S410R|CALD1_ENST00000424922.1_Splice_Site_p.S399R|CALD1_ENST00000361901.2_Splice_Site_p.S405R|CALD1_ENST00000417172.1_Splice_Site_p.S405R|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361388.2_Splice_Site_p.S431R			Q05682	CALD1_HUMAN	caldesmon 1	660	Strong actin-binding. {ECO:0000250}.				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.S660R(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						TGTGCAGAAAAGGTAAATATG	0.299																																					p.S431R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1291C	7						.						141.0	141.0	141.0					7																	134642862		2203	4300	6503	134293402	SO:0001630	splice_region_variant	800	exon10			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.1979+1A>C	7.37:g.134642862A>C			134293402	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596477	0.66332	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.61274	1.21;0.12;1.13;0.59;0.67;1.21;1.17;1.15;0.59;1.18	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000018	T	0.67239	0.2872	L	0.37561	1.115	0.45515	D	0.998478	B;B;D;D;B;B;B;B;P;P	0.89917	0.151;0.125;1.0;1.0;0.125;0.125;0.125;0.125;0.733;0.606	B;B;D;D;B;B;B;B;B;B	0.78314	0.103;0.037;0.991;0.991;0.037;0.037;0.037;0.037;0.376;0.177	T	0.70328	-0.4902	10	0.72032	D	0.01	-12.5428	14.1993	0.65690	1.0:0.0:0.0:0.0	.	354;410;431;425;399;425;405;431;660;405	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	R	405;405;431;431;39;660;405;425;399;425;410	ENSP00000398826:S405R;ENSP00000411476:S405R;ENSP00000355000:S431R;ENSP00000395710:S431R;ENSP00000354826:S660R;ENSP00000354513:S405R;ENSP00000376826:S425R;ENSP00000393621:S399R;ENSP00000419673:S425R;ENSP00000445641:S410R	ENSP00000355000:S431R	S	+	1	0	CALD1	134293402	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.909000	0.69923	2.093000	0.63338	0.533000	0.62120	AGC;AGC;AGC;AGT;AGT;AGC;AGC;AGC;AGC;AGT;AGC		0.299	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	Missense_Mutation
CALD1	800	broad.mit.edu	37	7	134650072	134650072	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:134650072G>T	ENST00000361675.2	+	14	2540	c.2311G>T	c.(2311-2313)Gac>Tac	p.D771Y	CALD1_ENST00000495522.1_Missense_Mutation_p.D535Y|CALD1_ENST00000393118.2_Missense_Mutation_p.D536Y|CALD1_ENST00000422748.1_Missense_Mutation_p.D541Y|CALD1_ENST00000543443.1_Missense_Mutation_p.D521Y|CALD1_ENST00000424922.1_Missense_Mutation_p.D510Y|CALD1_ENST00000361901.2_Missense_Mutation_p.D516Y|CALD1_ENST00000417172.1_Missense_Mutation_p.D516Y|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361388.2_Missense_Mutation_p.D542Y			Q05682	CALD1_HUMAN	caldesmon 1	771	Weak actin-binding. {ECO:0000250}.				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.D771Y(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						GAGACCAGGAGACGTATCCAG	0.418																																					p.D541Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1621T	7						.						142.0	138.0	139.0					7																	134650072		2203	4300	6503	134300612	SO:0001583	missense	800	exon14			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.2311G>T	7.37:g.134650072G>T	ENSP00000354826:p.Asp771Tyr		134300612	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539843	0.85917	.	.	ENSG00000122786	ENST00000417172;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000053	D	0.84492	0.5484	M	0.82517	2.595	0.58432	D	0.999995	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	0.97110	0.998;0.999;0.99;0.99;0.999;0.999;1.0;0.999;1.0	D	0.85473	0.1174	10	0.87932	D	0	-36.1391	20.3465	0.98790	0.0:0.0:1.0:0.0	.	465;521;541;535;510;536;516;542;771	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682	.;.;.;.;.;.;.;.;CALD1_HUMAN	Y	516;542;541;771;516;536;510;535;521	ENSP00000398826:D516Y;ENSP00000355000:D542Y;ENSP00000395710:D541Y;ENSP00000354826:D771Y;ENSP00000354513:D516Y;ENSP00000376826:D536Y;ENSP00000393621:D510Y;ENSP00000419673:D535Y;ENSP00000445641:D521Y	ENSP00000355000:D542Y	D	+	1	0	CALD1	134300612	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.151000	0.89636	2.798000	0.96311	0.655000	0.94253	GAC		0.418	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
WDR91	29062	broad.mit.edu	37	7	134896162	134896162	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:134896162C>T	ENST00000354475.4	-	1	124	c.93G>A	c.(91-93)gaG>gaA	p.E31E	WDR91_ENST00000344400.5_Silent_p.E31E|WDR91_ENST00000423565.1_5'Flank	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	31								p.E31E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CCGCCTTGATCTCGGCGTCCA	0.731																																					p.E31E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G93A	7						.						29.0	30.0	29.0					7																	134896162		2203	4300	6503	134546702	SO:0001819	synonymous_variant	29062	exon1			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.93G>A	7.37:g.134896162C>T			134546702	NM_014149	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	CCDS34758.1																																																																																				0.731	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
STRA8	346673	broad.mit.edu	37	7	134943242	134943242	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:134943242T>G	ENST00000275764.3	+	9	991	c.991T>G	c.(991-993)Taa>Gaa	p.*331E		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.*331E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TGAAGATTTGTAATGCAGAAG	0.527																																					p.X331E												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T991G	7						.						81.0	62.0	69.0					7																	134943242		2202	4299	6501	134593782	SO:0001578	stop_lost	346673	exon9			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.991T>G	7.37:g.134943242T>G	ENSP00000275764:p.*331Gluext*?		134593782	NM_182489		Nonstop_Mutation	SNP	ENST00000275764.3	37	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486070	0.44147	.	.	ENSG00000146857	ENST00000275764	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6006	0.45365	0.0:0.0:0.0:1.0	.	.	.	.	E	331	.	.	X	+	1	0	STRA8	134593782	0.988000	0.35896	0.125000	0.21846	0.028000	0.11728	3.846000	0.55888	2.010000	0.58986	0.533000	0.62120	TAA		0.527	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489	
CNOT4	4850	broad.mit.edu	37	7	135098359	135098359	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:135098359A>G	ENST00000315544.5	-	6	844	c.565T>C	c.(565-567)Tct>Cct	p.S189P	CNOT4_ENST00000356162.4_Missense_Mutation_p.S189P|CNOT4_ENST00000423368.2_Missense_Mutation_p.S189P|CNOT4_ENST00000361528.4_Missense_Mutation_p.S189P|CNOT4_ENST00000428680.2_Missense_Mutation_p.S189P|CNOT4_ENST00000451834.1_Missense_Mutation_p.S189P|CNOT4_ENST00000414802.1_Missense_Mutation_p.S189P|CNOT4_ENST00000541284.1_Missense_Mutation_p.S189P	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	189	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S189P(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTACCTAGAGATGCCTGCAGG	0.418																																					p.S189P	Ovarian(51;766 1130 5502 35047 50875)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T565C	7						.						82.0	77.0	78.0					7																	135098359		1884	4100	5984	134748899	SO:0001583	missense	4850	exon6			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.565T>C	7.37:g.135098359A>G	ENSP00000326731:p.Ser189Pro		134748899	NM_001190850	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440049	0.83993	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.51574	0.7;0.71;0.71;0.72;0.72;0.72;0.7;0.7	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.993;0.992;0.981;0.997	D;D;D;D;D;D	0.79108	0.992;0.983;0.942;0.929;0.959;0.986	T	0.79470	-0.1790	10	0.72032	D	0.01	-4.9894	16.4101	0.83708	1.0:0.0:0.0:0.0	.	189;189;189;189;189;189	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	P	189	ENSP00000445508:S189P;ENSP00000388491:S189P;ENSP00000406777:S189P;ENSP00000354673:S189P;ENSP00000416532:S189P;ENSP00000348485:S189P;ENSP00000399108:S189P;ENSP00000326731:S189P	ENSP00000262563:S189P	S	-	1	0	CNOT4	134748899	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.982000	0.93471	2.280000	0.76307	0.460000	0.39030	TCT		0.418	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316	
CNOT4	4850	broad.mit.edu	37	7	135100001	135100001	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:135100001C>T	ENST00000315544.5	-	4	662	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	CNOT4_ENST00000356162.4_Missense_Mutation_p.R128Q|CNOT4_ENST00000423368.2_Missense_Mutation_p.R128Q|CNOT4_ENST00000361528.4_Missense_Mutation_p.R128Q|CNOT4_ENST00000428680.2_Missense_Mutation_p.R128Q|CNOT4_ENST00000451834.1_Missense_Mutation_p.R128Q|CNOT4_ENST00000414802.1_Missense_Mutation_p.R128Q|CNOT4_ENST00000541284.1_Missense_Mutation_p.R128Q	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	128	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R128Q(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATATTCTGGTCGTTTTAAAAC	0.323																																					p.R128Q	Ovarian(51;766 1130 5502 35047 50875)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	7						.						131.0	128.0	129.0					7																	135100001		1804	4073	5877	134750541	SO:0001583	missense	4850	exon4			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.383G>A	7.37:g.135100001C>T	ENSP00000326731:p.Arg128Gln		134750541	NM_001190850	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324997	0.81580	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	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	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	L	0.40543	1.245	0.80722	D	1	P;P;B;B;D;D	0.69078	0.642;0.566;0.222;0.212;0.997;0.994	B;B;B;B;D;P	0.66847	0.087;0.18;0.022;0.146;0.947;0.793	T	0.50759	-0.8790	10	0.38643	T	0.18	-3.1067	19.4718	0.94966	0.0:1.0:0.0:0.0	.	128;128;128;128;128;128	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	Q	128	ENSP00000445508:R128Q;ENSP00000388491:R128Q;ENSP00000406777:R128Q;ENSP00000354673:R128Q;ENSP00000416532:R128Q;ENSP00000348485:R128Q;ENSP00000399108:R128Q;ENSP00000326731:R128Q	ENSP00000262563:R128Q	R	-	2	0	CNOT4	134750541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.665000	0.90641	0.557000	0.71058	CGA		0.323	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316	
NUP205	23165	broad.mit.edu	37	7	135287694	135287694	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:135287694G>A	ENST00000285968.6	+	18	2680	c.2654G>A	c.(2653-2655)gGa>gAa	p.G885E		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	885					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.G885E(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTTTTGCAGGGAATTAATCCC	0.378																																					p.G885E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2654A	7						.						70.0	70.0	70.0					7																	135287694		2203	4300	6503	134938234	SO:0001583	missense	23165	exon18			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2654G>A	7.37:g.135287694G>A	ENSP00000285968:p.Gly885Glu		134938234	NM_015135	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866406	0.91511	.	.	ENSG00000155561	ENST00000285968	T	0.42900	0.96	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.61058	-0.7139	10	0.33940	T	0.23	-5.2501	18.4551	0.90717	0.0:0.0:1.0:0.0	.	885	Q92621	NU205_HUMAN	E	885	ENSP00000285968:G885E	ENSP00000285968:G885E	G	+	2	0	NUP205	134938234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.333000	0.79357	0.591000	0.81541	GGA		0.378	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
TRIM24	8805	broad.mit.edu	37	7	138262238	138262238	+	Nonsense_Mutation	SNP	C	C	T	rs201997143		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:138262238C>T	ENST00000343526.4	+	14	2376	c.2161C>T	c.(2161-2163)Cga>Tga	p.R721*	TRIM24_ENST00000415680.2_Nonsense_Mutation_p.R687*			O15164	TIF1A_HUMAN	tripartite motif containing 24	721					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.R721*(2)|p.R687*(2)		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						GGAGCCAATTCGAATAAAACA	0.423																																					p.R687X	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C2059T	7						.						87.0	85.0	86.0					7																	138262238		2203	4300	6503	137912778	SO:0001587	stop_gained	8805	exon14			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.2161C>T	7.37:g.138262238C>T	ENSP00000340507:p.Arg721*		137912778	NM_003852	A4D1R7|A4D1R8|O95854	Nonsense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	39	7.705403	0.98444	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	.	.	.	5.67	4.71	0.59529	.	0.102507	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-15.1556	13.2383	0.59982	0.2643:0.7357:0.0:0.0	.	.	.	.	X	721;632;687	.	ENSP00000340507:R721X	R	+	1	2	TRIM24	137912778	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.972000	0.49256	2.661000	0.90470	0.460000	0.39030	CGA		0.423	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
SVOPL	136306	broad.mit.edu	37	7	138281185	138281185	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:138281185C>T	ENST00000419765.3	-	14	1477	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	SVOPL_ENST00000436657.1_Missense_Mutation_p.E330K|SVOPL_ENST00000288513.5_Missense_Mutation_p.E330K|SVOPL_ENST00000421622.1_Missense_Mutation_p.E362K|SVOPL_ENST00000463557.1_5'UTR	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	482						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.E330K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCTTTGGTTTCGATGGGGAGA	0.488																																					p.E330K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988A	7						.						87.0	82.0	84.0					7																	138281185		2203	4300	6503	137931725	SO:0001583	missense	136306	exon11			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1444G>A	7.37:g.138281185C>T	ENSP00000405482:p.Glu482Lys		137931725	NM_174959		Missense_Mutation	SNP	ENST00000419765.3	37	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034738	0.93575	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.59	5.59	0.84812	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	M	0.90019	3.08	0.49798	D	0.999824	D;D	0.89917	1.0;1.0	D;D	0.85130	0.956;0.997	D	0.93000	0.6422	10	0.87932	D	0	-18.946	17.3735	0.87385	0.0:1.0:0.0:0.0	.	482;330	Q8N434;Q8N434-2	SVOPL_HUMAN;.	K	330;362;330;482	ENSP00000288513:E330K;ENSP00000412830:E362K;ENSP00000417018:E330K;ENSP00000405482:E482K	ENSP00000288513:E330K	E	-	1	0	SVOPL	137931725	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	4.681000	0.61663	2.636000	0.89361	0.655000	0.94253	GAA		0.488	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
ATP6V0A4	50617	broad.mit.edu	37	7	138444564	138444564	+	Missense_Mutation	SNP	C	C	T	rs374791119		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:138444564C>T	ENST00000310018.2	-	8	854	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	ATP6V0A4_ENST00000483139.1_5'Flank|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R191Q|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R191Q	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	
ZC3HAV1L	92092	broad.mit.edu	37	7	138719365	138719365	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:138719365C>T	ENST00000275766.1	-	2	436	c.425G>A	c.(424-426)aGc>aAc	p.S142N		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	142								p.S142N(1)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						AAGTCCATGGCTTTTCAGGAC	0.488																																					p.S142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425A	7						.						123.0	116.0	118.0					7																	138719365		2203	4300	6503	138369905	SO:0001583	missense	92092	exon2			BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.425G>A	7.37:g.138719365C>T	ENSP00000275766:p.Ser142Asn		138369905	NM_080660	Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	C	1.581	-0.531491	0.04112	.	.	ENSG00000146858	ENST00000275766	T	0.38722	1.12	5.65	-2.0	0.07433	.	0.485813	0.19102	N	0.122676	T	0.12689	0.0308	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30534	-0.9975	10	0.02654	T	1	.	4.8935	0.13738	0.0:0.2373:0.2768:0.4859	.	142	Q96H79	ZCCHL_HUMAN	N	142	ENSP00000275766:S142N	ENSP00000275766:S142N	S	-	2	0	ZC3HAV1L	138369905	0.954000	0.32549	0.085000	0.20634	0.921000	0.55340	0.097000	0.15168	-0.137000	0.11455	-0.295000	0.09555	AGC		0.488	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660	
ETV1	2115	broad.mit.edu	37	7	13971369	13971369	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:13971369C>T	ENST00000430479.1	-	9	1227	c.560G>A	c.(559-561)cGc>cAc	p.R187H	ETV1_ENST00000405358.4_Missense_Mutation_p.R201H|ETV1_ENST00000343495.5_Missense_Mutation_p.R169H|ETV1_ENST00000403527.1_Missense_Mutation_p.R147H|ETV1_ENST00000420159.2_Missense_Mutation_p.R129H|ETV1_ENST00000403685.1_Missense_Mutation_p.R169H|ETV1_ENST00000405218.2_Missense_Mutation_p.R187H|ETV1_ENST00000405192.2_Missense_Mutation_p.R187H|ETV1_ENST00000399357.3_Missense_Mutation_p.R84H|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Missense_Mutation_p.R169H	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	187					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.R187H(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						AAGCTGGCGGCGAAATCTAGG	0.453			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.R187H			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G560A	7						.						77.0	77.0	77.0					7																	13971369		1958	4136	6094	13937894	SO:0001583	missense	2115	exon8				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.560G>A	7.37:g.13971369C>T	ENSP00000405327:p.Arg187His		13937894	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	23.9	4.476349	0.84640	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.40302	N	0.001135	T	0.38957	0.1060	L	0.38175	1.15	0.40049	D	0.975753	B;B;P;D;D;D;P;B	0.89917	0.439;0.103;0.637;1.0;1.0;1.0;0.477;0.126	B;B;B;D;D;D;B;B	0.91635	0.061;0.021;0.061;0.993;0.999;0.996;0.054;0.036	T	0.01349	-1.1378	10	0.22109	T	0.4	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	198;169;201;129;84;147;129;187	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	H	187;169;169;129;84;187;201;147;187;169;129;84	ENSP00000405327:R187H;ENSP00000242066:R169H;ENSP00000340853:R169H;ENSP00000411626:R129H;ENSP00000382293:R84H;ENSP00000385381:R187H;ENSP00000384085:R201H;ENSP00000384138:R147H;ENSP00000385551:R187H;ENSP00000385686:R169H;ENSP00000393078:R129H;ENSP00000394710:R84H	ENSP00000242066:R169H	R	-	2	0	ETV1	13937894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	CGC		0.453	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
UBN2	254048	broad.mit.edu	37	7	138957074	138957074	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:138957074C>T	ENST00000473989.3	+	9	1603	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	UBN2_ENST00000288561.8_Missense_Mutation_p.R452C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	535						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R452C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTAGGATGATCGTTTAAGAGA	0.363																																					p.R535C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1603T	7						.						100.0	92.0	95.0					7																	138957074		1827	4092	5919	138607614	SO:0001583	missense	254048	exon9			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1603C>T	7.37:g.138957074C>T	ENSP00000418648:p.Arg535Cys		138607614	NM_173569	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652286	0.88056	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.49139	0.79;0.79	5.65	5.65	0.86999	.	0.054620	0.85682	D	0.000000	T	0.69205	0.3085	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	T	0.70757	-0.4785	10	0.66056	D	0.02	-8.0619	19.7202	0.96139	0.0:1.0:0.0:0.0	.	535	Q6ZU65	UBN2_HUMAN	C	535;452	ENSP00000418648:R535C;ENSP00000288561:R452C	ENSP00000288561:R452C	R	+	1	0	UBN2	138607614	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.680000	0.61656	2.660000	0.90430	0.555000	0.69702	CGT		0.363	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
SLC37A3	84255	broad.mit.edu	37	7	140082257	140082257	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:140082257A>G	ENST00000326232.9	-	2	273	c.70T>C	c.(70-72)Ttc>Ctc	p.F24L	SLC37A3_ENST00000447932.2_Missense_Mutation_p.F24L|SLC37A3_ENST00000429996.2_Missense_Mutation_p.F24L|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000340308.3_Missense_Mutation_p.F24L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	24					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.F24L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTGAGCAGGAACACTACAACA	0.448																																					p.F24L	Esophageal Squamous(133;211 1716 4665 11387 37873)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T70C	7						.						219.0	188.0	199.0					7																	140082257		2203	4300	6503	139728726	SO:0001583	missense	84255	exon2			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.70T>C	7.37:g.140082257A>G	ENSP00000321498:p.Phe24Leu		139728726	NM_032295	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.243705	0.58995	.	.	ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232;ENST00000429996;ENST00000539816;ENST00000469193	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	N	0.17901	0.54	0.50632	D	0.999889	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.997;1.0	T	0.52442	-0.8575	10	0.27082	T	0.32	-20.8623	11.3063	0.49336	1.0:0.0:0.0:0.0	.	24;24;24;24;24	B4DKF5;F5H743;Q8NCC5-2;Q8NCC5-3;Q8NCC5	.;.;.;.;SPX3_HUMAN	L	24	ENSP00000343358:F24L;ENSP00000397481:F24L;ENSP00000321498:F24L;ENSP00000412208:F24L;ENSP00000419024:F24L	ENSP00000321498:F24L	F	-	1	0	SLC37A3	139728726	1.000000	0.71417	0.971000	0.41717	0.943000	0.58893	5.618000	0.67722	1.923000	0.55706	0.477000	0.44152	TTC		0.448	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295	
DENND2A	27147	broad.mit.edu	37	7	140301727	140301727	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:140301727G>T	ENST00000275884.6	-	2	888	c.471C>A	c.(469-471)ctC>ctA	p.L157L	DENND2A_ENST00000496613.1_Silent_p.L157L|DENND2A_ENST00000492720.1_Silent_p.L157L|DENND2A_ENST00000537639.1_Silent_p.L157L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	157					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L157L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCAGCACGGAGAGGGGATCGT	0.597																																					p.L157L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471A	7						.						76.0	79.0	78.0					7																	140301727		2001	4165	6166	139948196	SO:0001819	synonymous_variant	27147	exon1			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.471C>A	7.37:g.140301727G>T			139948196	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.597	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
CLEC5A	23601	broad.mit.edu	37	7	141646040	141646040	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:141646040A>C	ENST00000546910.1	-	2	249	c.53T>G	c.(52-54)gTt>gGt	p.V18G	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.V18G|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.V18G	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	18					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)	p.V18G(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GGTCATTCCAACAACTTTAAG	0.443																																					p.V18G	GBM(154;1592 2613 3360 42983)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T53G	7						.						133.0	97.0	109.0					7																	141646040		2203	4292	6495	141292509	SO:0001583	missense	23601	exon2				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.53T>G	7.37:g.141646040A>C	ENSP00000449999:p.Val18Gly		141292509	NM_013252	Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.012638	0.35511	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000438351	T;T;T	0.02709	4.34;4.68;4.19	5.05	2.75	0.32379	.	0.547632	0.16713	N	0.202563	T	0.03348	0.0097	L	0.34521	1.04	0.20307	N	0.999913	P;P;P;P	0.44044	0.731;0.731;0.825;0.731	B;B;P;B	0.44897	0.273;0.273;0.463;0.273	T	0.40213	-0.9575	10	0.87932	D	0	-12.1979	5.9742	0.19369	0.8017:0.0:0.1983:0.0	.	18;18;18;18	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	G	18	ENSP00000449999:V18G;ENSP00000446890:V18G;ENSP00000414897:V18G	ENSP00000265306:V18G	V	-	2	0	CLEC5A	141292509	0.000000	0.05858	0.011000	0.14972	0.474000	0.32979	0.315000	0.19451	1.054000	0.40438	0.533000	0.62120	GTT		0.443	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252	
MGAM	8972	broad.mit.edu	37	7	141730192	141730192	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:141730192G>A	ENST00000549489.2	+	11	1347	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	MGAM_ENST00000475668.2_Missense_Mutation_p.D418N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	418	Maltase.				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.D418N(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATTATATGGATGAGAGAAG	0.348																																					p.D418N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1252A	7						.						112.0	97.0	102.0					7																	141730192		1840	4096	5936	141376661	SO:0001583	missense	8972	exon11			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1252G>A	7.37:g.141730192G>A	ENSP00000447378:p.Asp418Asn		141376661	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775699	0.70107	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93604	-3.25	5.07	4.18	0.49190	Glycoside hydrolase, superfamily (1);	0.217688	0.32028	N	0.006693	D	0.90793	0.7109	L	0.49350	1.555	0.41443	D	0.987933	B	0.16166	0.016	B	0.23419	0.046	D	0.87940	0.2716	10	0.45353	T	0.12	.	13.3821	0.60773	0.0:0.159:0.841:0.0	.	418	O43451	MGA_HUMAN	N	418;418;295	ENSP00000447378:D418N	ENSP00000316431:D295N	D	+	1	0	MGAM	141376661	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.961000	0.63681	1.345000	0.45676	0.563000	0.77884	GAT		0.348	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
EPHB6	2051	broad.mit.edu	37	7	142564009	142564009	+	Missense_Mutation	SNP	T	T	C	rs181875074		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:142564009T>C	ENST00000392957.2	+	9	2184	c.1397T>C	c.(1396-1398)gTg>gCg	p.V466A	EPHB6_ENST00000442129.1_Missense_Mutation_p.V466A|EPHB6_ENST00000411471.2_Missense_Mutation_p.V189A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	466	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.V451A(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTTAATGGGGTGTCTGAGCTC	0.592													T|||	1	0.000199681	0.0	0.0014	5008	,	,		16282	0.0		0.0	False		,,,				2504	0.0				p.V466A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1397C	7						.						52.0	52.0	52.0					7																	142564009		2203	4300	6503	142274131	SO:0001583	missense	2051	exon9			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1397T>C	7.37:g.142564009T>C	ENSP00000376684:p.Val466Ala		142274131	NM_004445	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	28.8	4.954628	0.92726	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.56275	0.47;0.47;0.47	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000563	T	0.78110	0.4232	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83597	0.0126	10	0.87932	D	0	.	14.7541	0.69549	0.0:0.0:0.0:1.0	.	466	O15197	EPHB6_HUMAN	A	466;466;189	ENSP00000376684:V466A;ENSP00000410789:V466A;ENSP00000409061:V189A	ENSP00000376684:V466A	V	+	2	0	EPHB6	142274131	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.993000	0.88291	2.070000	0.61991	0.459000	0.35465	GTG		0.592	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
TAS2R40	259286	broad.mit.edu	37	7	142919981	142919981	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:142919981C>A	ENST00000408947.3	+	1	852	c.810C>A	c.(808-810)atC>atA	p.I270I	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	270					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.I270I(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CGTCCAACATCTTTGACACTT	0.478																																					p.I270I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C810A	7						.						116.0	115.0	116.0					7																	142919981		1929	4149	6078	142630103	SO:0001819	synonymous_variant	259286	exon1			AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.810C>A	7.37:g.142919981C>A			142630103	NM_176882	A4D2I2|Q645W6	Silent	SNP	ENST00000408947.3	37	CCDS43662.1																																																																																				0.478	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1		
EPHA1	2041	broad.mit.edu	37	7	143092577	143092577	+	Nonsense_Mutation	SNP	G	G	A	rs112723648		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:143092577G>A	ENST00000275815.3	-	12	2004	c.1918C>T	c.(1918-1920)Cga>Tga	p.R640*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	640	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R640*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGGTCCCTCGATACACTTCC	0.582											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R640X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1918T	7						.	G	stop/ARG	0,4406		0,0,2203	71.0	70.0	70.0		1918	4.8	1.0	7	dbSNP_132	70	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	EPHA1	NM_005232.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		640/977	143092577	1,13005	2203	4300	6503	142802699	SO:0001587	stop_gained	2041	exon12			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1918C>T	7.37:g.143092577G>A	ENSP00000275815:p.Arg640*	1676	142802699	NM_005232	A1L3V3|B5A966|B5A967|Q15405	Nonsense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	39	7.575903	0.98368	0.0	1.16E-4	ENSG00000146904	ENST00000275815	.	.	.	4.83	4.83	0.62350	.	0.129357	0.35525	N	0.003158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	13.4511	0.61172	0.0:0.0:0.8434:0.1566	.	.	.	.	X	640	.	ENSP00000275815:R640X	R	-	1	2	EPHA1	142802699	1.000000	0.71417	0.979000	0.43373	0.814000	0.46013	3.541000	0.53618	2.669000	0.90835	0.655000	0.94253	CGA		0.582	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
CTAGE6	340307	broad.mit.edu	37	7	143453394	143453394	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:143453394T>G	ENST00000470691.2	-	1	1395	c.1358A>C	c.(1357-1359)aAg>aCg	p.K453T	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	453						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					AATAACCTGCTTTTGATAAAA	0.413																																					p.K453T												.	.	0			c.A1358C	7						.																																			143084327	SO:0001583	missense	340307	exon1			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1358A>C	7.37:g.143453394T>G	ENSP00000474388:p.Lys453Thr		143084327	NM_178561	A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37																																																																																					0.413	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561	
DGKB	1607	broad.mit.edu	37	7	14378254	14378254	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:14378254A>G	ENST00000403951.2	-	23	2430	c.2011T>C	c.(2011-2013)Tcc>Ccc	p.S671P	DGKB_ENST00000258767.5_Missense_Mutation_p.S671P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.S671P|DGKB_ENST00000407950.1_Missense_Mutation_p.S663P|DGKB_ENST00000402815.1_Missense_Mutation_p.S670P|DGKB_ENST00000444700.2_Missense_Mutation_p.S652P|DGKB_ENST00000399322.3_Missense_Mutation_p.S671P			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	671					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.S671P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CAAAGATTGGATCCTCCATGC	0.403																																					p.S671P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2011C	7						.						141.0	127.0	132.0					7																	14378254		1849	4099	5948	14344779	SO:0001583	missense	1607	exon22			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2011T>C	7.37:g.14378254A>G	ENSP00000385780:p.Ser671Pro		14344779	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.754007	0.89843	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.79475	2.455	0.58432	D	0.999998	D;D;D;D	0.89917	0.996;0.998;0.998;1.0	D;D;D;D	0.74674	0.959;0.984;0.984;0.983	T	0.68823	-0.5307	10	0.54805	T	0.06	.	15.6097	0.76707	1.0:0.0:0.0:0.0	.	670;652;671;671	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	P	671;671;671;670;663;652;671	ENSP00000385780:S671P;ENSP00000382260:S671P;ENSP00000258767:S671P;ENSP00000384909:S670P;ENSP00000385031:S663P;ENSP00000388451:S652P;ENSP00000386066:S671P	ENSP00000258767:S671P	S	-	1	0	DGKB	14344779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.079000	0.62486	0.528000	0.53228	TCC		0.403	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
OR2A5	393046	broad.mit.edu	37	7	143748264	143748264	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:143748264T>C	ENST00000408906.2	+	1	804	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V257A(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AGCGCCATTGTCATGTACATG	0.567																																					p.V257A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T770C	7						.						96.0	95.0	95.0					7																	143748264		2022	4184	6206	143379197	SO:0001583	missense	393046	exon1			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.770T>C	7.37:g.143748264T>C	ENSP00000386208:p.Val257Ala		143379197	NM_012365	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.836317	0.32421	.	.	ENSG00000221836	ENST00000408906	T	0.00158	8.65	5.37	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.298825	0.18066	U	0.152768	T	0.00073	0.0002	N	0.11284	0.12	0.23528	N	0.997484	B	0.14805	0.011	B	0.24006	0.05	T	0.33007	-0.9885	10	0.51188	T	0.08	.	5.8024	0.18422	0.0:0.0868:0.169:0.7442	.	257	Q96R48	OR2A5_HUMAN	A	257	ENSP00000386208:V257A	ENSP00000386208:V257A	V	+	2	0	OR2A5	143379197	0.075000	0.21258	0.999000	0.59377	0.985000	0.73830	0.812000	0.27211	2.256000	0.74724	0.528000	0.53228	GTC		0.567	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
DGKB	1607	broad.mit.edu	37	7	14733798	14733798	+	Nonsense_Mutation	SNP	C	C	A	rs368748237		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:14733798C>A	ENST00000403951.2	-	9	1032	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	DGKB_ENST00000258767.5_Nonsense_Mutation_p.E205*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Nonsense_Mutation_p.E205*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.E198*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.E205*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.E198*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.E205*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	205	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E205*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TAGTCAATTTCTTCCATCATT	0.393																																					p.E205X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G613T	7						.						67.0	62.0	63.0					7																	14733798		1890	4131	6021	14700323	SO:0001587	stop_gained	1607	exon8			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.613G>T	7.37:g.14733798C>A	ENSP00000385780:p.Glu205*		14700323	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	38	6.784285	0.97837	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.8709	0.96851	0.0:1.0:0.0:0.0	.	.	.	.	X	205;205;205;205;198;198;205	.	ENSP00000258767:E205X	E	-	1	0	DGKB	14700323	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.005000	0.70716	2.698000	0.92095	0.591000	0.81541	GAA		0.393	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
CNTNAP2	26047	broad.mit.edu	37	7	146805321	146805321	+	Silent	SNP	C	C	A	rs140505542	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:146805321C>A	ENST00000361727.3	+	5	1149	c.633C>A	c.(631-633)gtC>gtA	p.V211V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	211					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.V211V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGAAAGATGTCATTGCCTTGA	0.373										HNSCC(39;0.1)																											p.V211V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633A	7						.	C		3,4403	6.2+/-15.9	0,3,2200	127.0	117.0	120.0		633	3.2	1.0	7	dbSNP_134	120	0,8600		0,0,4300	no	coding-synonymous	CNTNAP2	NM_014141.5		0,3,6500	AA,AC,CC		0.0,0.0681,0.0231		211/1332	146805321	3,13003	2203	4300	6503	146436254	SO:0001819	synonymous_variant	26047	exon5			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.633C>A	7.37:g.146805321C>A			146436254	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.373	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DGKB	1607	broad.mit.edu	37	7	14880845	14880845	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:14880845A>C	ENST00000403951.2	-	2	463	c.44T>G	c.(43-45)tTt>tGt	p.F15C	DGKB_ENST00000258767.5_Missense_Mutation_p.F15C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.F15C|DGKB_ENST00000407950.1_Missense_Mutation_p.F15C|DGKB_ENST00000402815.1_Missense_Mutation_p.F15C|DGKB_ENST00000444700.2_Missense_Mutation_p.F15C|DGKB_ENST00000399322.3_Missense_Mutation_p.F15C			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	15					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.F15C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AAGTTGGGAAAATTCCGAAGG	0.368																																					p.F15C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T44G	7						.						81.0	79.0	80.0					7																	14880845		1851	4088	5939	14847370	SO:0001583	missense	1607	exon1			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.44T>G	7.37:g.14880845A>C	ENSP00000385780:p.Phe15Cys		14847370	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497223	0.64186	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.52	5.52	0.82312	.	0.179529	0.48286	D	0.000184	T	0.79341	0.4429	M	0.78049	2.395	0.42052	D	0.991121	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.996	T	0.82573	-0.0390	10	0.87932	D	0	.	14.6759	0.68978	1.0:0.0:0.0:0.0	.	15;15;15;15	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	C	15	ENSP00000385780:F15C;ENSP00000382260:F15C;ENSP00000258767:F15C;ENSP00000384909:F15C;ENSP00000385031:F15C;ENSP00000388451:F15C;ENSP00000386066:F15C;ENSP00000405569:F15C	ENSP00000258767:F15C	F	-	2	0	DGKB	14847370	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	6.064000	0.71169	2.115000	0.64714	0.439000	0.28862	TTT		0.368	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
CNTNAP2	26047	broad.mit.edu	37	7	147869528	147869528	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:147869528G>A	ENST00000361727.3	+	18	3484	c.2968G>A	c.(2968-2970)Gat>Aat	p.D990N	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D49N	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	990	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D990N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTACTCCTGCGATTGCTCTAA	0.453										HNSCC(39;0.1)																											p.D990N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2968A	7						.						148.0	146.0	147.0					7																	147869528		2203	4300	6503	147500461	SO:0001583	missense	26047	exon18			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2968G>A	7.37:g.147869528G>A	ENSP00000354778:p.Asp990Asn		147500461	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774188	0.69992	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;D	0.84730	-1.89;-1.89	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90310	0.6969	M	0.76838	2.35	0.58432	D	0.999999	P	0.52692	0.955	P	0.54706	0.759	D	0.90228	0.4277	10	0.44086	T	0.13	.	17.4971	0.87720	0.0:0.0:1.0:0.0	.	990	Q9UHC6	CNTP2_HUMAN	N	990;49	ENSP00000354778:D990N;ENSP00000440732:D49N	ENSP00000354778:D990N	D	+	1	0	CNTNAP2	147500461	1.000000	0.71417	0.994000	0.49952	0.116000	0.19942	9.694000	0.98686	2.483000	0.83821	0.563000	0.77884	GAT		0.453	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
ZNF282	8427	broad.mit.edu	37	7	148904529	148904529	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:148904529G>A	ENST00000262085.3	+	4	904	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	ZNF282_ENST00000479907.1_Missense_Mutation_p.E267K	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	267	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.E267K(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GCGCCACCCCGAAGAGAGAGA	0.622																																					p.E267K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G799A	7						.						45.0	35.0	38.0					7																	148904529		2197	4291	6488	148535462	SO:0001583	missense	8427	exon4			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.799G>A	7.37:g.148904529G>A	ENSP00000262085:p.Glu267Lys		148535462	NM_003575	B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555932	0.45487	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.07567	3.18;5.03	5.42	4.48	0.54585	Krueppel-associated box (1);	0.120941	0.37095	N	0.002256	T	0.09905	0.0243	L	0.38175	1.15	0.32615	N	0.52415	P;D;D	0.67145	0.647;0.996;0.996	B;P;P	0.47134	0.09;0.452;0.539	T	0.04333	-1.0959	10	0.49607	T	0.09	-9.018	11.3091	0.49353	0.0:0.1835:0.8165:0.0	.	267;239;267	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	K	267	ENSP00000262085:E267K;ENSP00000418840:E267K	ENSP00000262085:E267K	E	+	1	0	ZNF282	148535462	0.986000	0.35501	0.795000	0.32087	0.610000	0.37248	2.082000	0.41605	2.532000	0.85374	0.655000	0.94253	GAA		0.622	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575	
GIMAP8	155038	broad.mit.edu	37	7	150174610	150174610	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:150174610G>T	ENST00000307271.3	+	5	2314	c.1740G>T	c.(1738-1740)aaG>aaT	p.K580N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	580	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.K580N(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)		ACTTCATGAAGAACTCAGATA	0.488																																					p.K580N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1740T	7						.						80.0	90.0	87.0					7																	150174610		2203	4300	6503	149805543	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.1740G>T	7.37:g.150174610G>T	ENSP00000305107:p.Lys580Asn		149805543	NM_175571		Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	5.370	0.253562	0.10185	.	.	ENSG00000171115	ENST00000307271	T	0.05580	3.42	4.44	-3.46	0.04767	AIG1 (1);	1.101840	0.07056	N	0.832818	T	0.04407	0.0121	L	0.45051	1.395	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.47947	-0.9077	10	0.12766	T	0.61	.	1.3249	0.02123	0.19:0.1322:0.199:0.4788	.	580	Q8ND71	GIMA8_HUMAN	N	580	ENSP00000305107:K580N	ENSP00000305107:K580N	K	+	3	2	GIMAP8	149805543	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.773000	0.00778	-0.525000	0.06391	-0.182000	0.12963	AAG		0.488	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
GIMAP6	474344	broad.mit.edu	37	7	150325487	150325487	+	Missense_Mutation	SNP	C	C	T	rs375893282		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:150325487C>T	ENST00000328902.5	-	3	415	c.199G>A	c.(199-201)Gag>Aag	p.E67K	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	67	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.E67K(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTTAGACTCGAAGACGTCC	0.552																																					p.E67K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	7						.						214.0	217.0	216.0					7																	150325487		2203	4300	6503	149956420	SO:0001583	missense	474344	exon3			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.199G>A	7.37:g.150325487C>T	ENSP00000330374:p.Glu67Lys		149956420	NM_024711	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686824	0.29962	.	.	ENSG00000133561	ENST00000328902;ENST00000392862;ENST00000477013	T	0.05513	3.43	4.29	1.31	0.21738	AIG1 (1);	0.248587	0.39834	N	0.001249	T	0.03095	0.0091	N	0.16130	0.375	0.09310	N	1	B	0.28933	0.228	B	0.32805	0.153	T	0.45963	-0.9225	10	0.07175	T	0.84	.	6.6258	0.22828	0.0:0.5408:0.3554:0.1039	.	67	Q6P9H5	GIMA6_HUMAN	K	67;128;67	ENSP00000330374:E67K	ENSP00000330374:E67K	E	-	1	0	GIMAP6	149956420	0.000000	0.05858	0.036000	0.18154	0.013000	0.08279	-1.417000	0.02464	0.432000	0.26286	0.561000	0.74099	GAG		0.552	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711	
AGAP3	116988	broad.mit.edu	37	7	150839592	150839592	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:150839592G>A	ENST00000463381.1	+	14	1647	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	AGAP3_ENST00000397238.2_Missense_Mutation_p.R715H	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	679	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.R715H(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCCCGGGTGCGCTCCCTTGAC	0.652																																					p.R715H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2144A	7						.						50.0	58.0	55.0					7																	150839592		2113	4238	6351	150470525	SO:0001583	missense	116988	exon16			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1151G>A	7.37:g.150839592G>A	ENSP00000418016:p.Arg384His		150470525	NM_031946	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.879889|4.879889	0.91740|0.91740	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.56776	.|0.44;0.44	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.056640	.|0.64402	.|N	.|0.000001	D|D	0.83589|0.83589	0.5287|0.5287	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.999;0.999;0.997	D|D	0.89731|0.89731	0.3926|0.3926	5|10	.|0.87932	.|D	.|0	.|.	18.3655|18.3655	0.90389|0.90389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|679;214;715;384	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	T|H	208|384;214;715;679	.|ENSP00000418016:R384H;ENSP00000380413:R715H	.|ENSP00000334157:R679H	A|R	+|+	1|2	0|0	AGAP3|AGAP3	150470525|150470525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.699000|0.699000	0.40488|0.40488	9.728000|9.728000	0.98792|0.98792	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.652	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	
NUB1	51667	broad.mit.edu	37	7	151065005	151065005	+	Missense_Mutation	SNP	G	G	A	rs373576077		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:151065005G>A	ENST00000355851.4	+	10	1123	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	NUB1_ENST00000568733.1_Missense_Mutation_p.R373Q|NUB1_ENST00000413040.2_Missense_Mutation_p.R373Q|NUB1_ENST00000566856.1_Missense_Mutation_p.R349Q	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	349					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R349Q(2)		endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAAGGGATCCGAAACTATCAC	0.323											OREG0018452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R349Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1046A	7						.	G	GLN/ARG	1,3659		0,1,1829	64.0	59.0	61.0		1046	3.8	0.8	7		61	0,8182		0,0,4091	no	missense	NUB1	NM_016118.4	43	0,1,5920	AA,AG,GG		0.0,0.0273,0.0084	benign	349/602	151065005	1,11841	1830	4091	5921	150695938	SO:0001583	missense	51667	exon10			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1046G>A	7.37:g.151065005G>A	ENSP00000348110:p.Arg349Gln	1737	150695938	NM_016118	O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37		.	.	.	.	.	.	.	.	.	.	G	7.323	0.617344	0.14129	2.73E-4	0.0	ENSG00000013374	ENST00000413040;ENST00000355851	T	0.62788	0.0	5.63	3.77	0.43336	UBA-like (1);	0.252750	0.34156	N	0.004213	T	0.46151	0.1378	L	0.36672	1.1	0.21445	N	0.99968	B;B	0.20988	0.03;0.05	B;B	0.09377	0.002;0.004	T	0.30592	-0.9973	10	0.33940	T	0.23	-9.2092	5.9963	0.19495	0.0727:0.1347:0.6531:0.1395	.	349;349	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	Q	349	ENSP00000348110:R349Q	ENSP00000348110:R349Q	R	+	2	0	NUB1	150695938	1.000000	0.71417	0.776000	0.31678	0.247000	0.25773	4.126000	0.57937	0.684000	0.31448	0.655000	0.94253	CGA		0.323	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118	
GALNTL5	168391	broad.mit.edu	37	7	151699925	151699925	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:151699925G>T	ENST00000392800.2	+	6	1039	c.785G>T	c.(784-786)aGa>aTa	p.R262I	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R262I|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	262					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R262I(2)		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)		ATTGATGATAGAACTCTGGAG	0.463																																					p.R262I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G785T	7						.						158.0	157.0	157.0					7																	151699925		2203	4300	6503	151330858	SO:0001583	missense	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.785G>T	7.37:g.151699925G>T	ENSP00000376548:p.Arg262Ile		151330858	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.751109	0.31046	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.59772	0.24;0.24	4.83	-8.69	0.00855	Glycosyl transferase, family 2 (1);	2.837350	0.00918	N	0.002546	T	0.33847	0.0877	N	0.20574	0.59	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.15983	-1.0418	10	0.72032	D	0.01	.	0.6247	0.00784	0.2543:0.3124:0.2024:0.2308	.	13;262	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	I	262	ENSP00000392582:R262I;ENSP00000376548:R262I	ENSP00000376548:R262I	R	+	2	0	GALNTL5	151330858	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.746000	0.26275	-1.305000	0.02327	-0.884000	0.02946	AGA		0.463	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292	
KMT2C	58508	broad.mit.edu	37	7	152055685	152055685	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:152055685C>T	ENST00000262189.6	-	2	455	c.237G>A	c.(235-237)acG>acA	p.T79T	KMT2C_ENST00000355193.2_Silent_p.T79T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	79					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.T79T(2)									TTTCCACAATCGTTTCTGTTT	0.358																																					p.T79T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G237A	7						.						230.0	204.0	213.0					7																	152055685		2203	4300	6503	151686618	SO:0001819	synonymous_variant	58508	exon2			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.237G>A	7.37:g.152055685C>T			151686618	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
XRCC2	7516	broad.mit.edu	37	7	152345999	152345999	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:152345999G>T	ENST00000359321.1	-	3	656	c.571C>A	c.(571-573)Ctt>Att	p.L191I	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	191					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.L191I(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GTTGCAAAAAGAACCAGGCGA	0.453								Homologous recombination																													p.L191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C571A	7						.						139.0	142.0	141.0					7																	152345999		2203	4300	6503	151976932	SO:0001583	missense	7516	exon3			Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.571C>A	7.37:g.152345999G>T	ENSP00000352271:p.Leu191Ile		151976932	NM_005431	B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470261	0.26423	.	.	ENSG00000196584	ENST00000359321	T	0.36340	1.26	5.06	4.17	0.49024	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.204869	0.42964	D	0.000621	T	0.25269	0.0614	N	0.16307	0.4	0.35225	D	0.776362	B	0.27166	0.17	B	0.28991	0.097	T	0.23048	-1.0199	10	0.32370	T	0.25	-15.8493	14.6601	0.68865	0.0:0.1461:0.8539:0.0	.	191	O43543	XRCC2_HUMAN	I	191	ENSP00000352271:L191I	ENSP00000352271:L191I	L	-	1	0	XRCC2	151976932	0.985000	0.35326	0.972000	0.41901	0.556000	0.35491	1.899000	0.39818	1.114000	0.41781	0.467000	0.42956	CTT		0.453	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431	
PAXIP1	22976	broad.mit.edu	37	7	154767536	154767536	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:154767536G>C	ENST00000404141.1	-	6	1098	c.944C>G	c.(943-945)gCt>gGt	p.A315G	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.A315G			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	315					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)				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)		GTTTTGTCCAGCAGCCATTAA	0.478																																					p.A315G												.	.	0			c.C944G	7						.						52.0	50.0	50.0					7																	154767536		1854	4092	5946	154398469	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.944C>G	7.37:g.154767536G>C	ENSP00000384048:p.Ala315Gly		154398469	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360141	0.24598	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.34072	1.38;1.38	5.04	4.16	0.48862	.	0.559845	0.15685	U	0.249740	T	0.31888	0.0811	N	0.19112	0.55	0.25009	N	0.991415	B;P;B;B	0.50943	0.018;0.94;0.008;0.091	B;P;B;B	0.50440	0.01;0.641;0.027;0.007	T	0.10590	-1.0623	10	0.15952	T	0.53	-3.4789	13.8519	0.63501	0.0747:0.0:0.9253:0.0	.	268;224;281;315	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	G	315;315;263;268	ENSP00000384048:A315G;ENSP00000380376:A315G	ENSP00000319149:A268G	A	-	2	0	PAXIP1	154398469	0.963000	0.33076	0.068000	0.19968	0.451000	0.32288	6.733000	0.74796	1.250000	0.43966	0.305000	0.20034	GCT		0.478	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
HTR5A	3361	broad.mit.edu	37	7	154876068	154876068	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:154876068C>T	ENST00000287907.2	+	2	1521	c.945C>T	c.(943-945)atC>atT	p.I315I	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	315					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.I315I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CCTGTGACATCCCCGCCATCT	0.552																																					p.I315I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	7						.						215.0	189.0	198.0					7																	154876068		2203	4300	6503	154507001	SO:0001819	synonymous_variant	3361	exon2				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.945C>T	7.37:g.154876068C>T			154507001	NM_024012	Q2M2D2	Silent	SNP	ENST00000287907.2	37	CCDS5936.1																																																																																				0.552	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
SDK1	221935	broad.mit.edu	37	7	4026862	4026862	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:4026862C>A	ENST00000404826.2	+	14	2178	c.2039C>A	c.(2038-2040)tCt>tAt	p.S680Y	SDK1_ENST00000389531.3_Missense_Mutation_p.S680Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	680	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S680Y(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)		AGCCCTAATTCTTCCCACAGC	0.468																																					p.S680Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2039A	7						.						152.0	146.0	148.0					7																	4026862		2203	4300	6503	3993388	SO:0001583	missense	221935	exon14			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.2039C>A	7.37:g.4026862C>A	ENSP00000385899:p.Ser680Tyr		3993388	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908932	0.33721	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58652	0.32;0.32	5.52	4.62	0.57501	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.569220	0.17202	N	0.183063	T	0.67088	0.2856	M	0.67569	2.06	0.09310	N	1	D	0.55172	0.97	P	0.57204	0.815	T	0.59894	-0.7368	10	0.66056	D	0.02	.	8.9891	0.36012	0.1489:0.7775:0.0:0.0736	.	680	Q7Z5N4	SDK1_HUMAN	Y	680	ENSP00000385899:S680Y;ENSP00000374182:S680Y	ENSP00000374182:S680Y	S	+	2	0	SDK1	3993388	0.011000	0.17503	0.001000	0.08648	0.481000	0.33189	2.522000	0.45572	1.280000	0.44463	0.655000	0.94253	TCT		0.468	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
RADIL	55698	broad.mit.edu	37	7	4874250	4874250	+	Silent	SNP	G	G	C	rs76862906	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	C	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:4874250G>C	ENST00000399583.3	-	4	1591	c.1404C>G	c.(1402-1404)cgC>cgG	p.R468R	RADIL_ENST00000536091.1_Silent_p.R468R|RADIL_ENST00000538469.1_Silent_p.R228R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	468					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGACAGTCTCGCGGATCAGCC	0.701																																					p.R468R												.	.	0			c.C1404G	7						.						15.0	20.0	18.0					7																	4874250		2045	4178	6223	4840776	SO:0001819	synonymous_variant	55698	exon4			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1404C>G	7.37:g.4874250G>C			4840776	NM_018059	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																				0.701	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059	
PAPOLB	56903	broad.mit.edu	37	7	4901207	4901207	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:4901207C>T	ENST00000404991.1	-	1	418	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	78					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.E78K(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)		TCACTGATTTCGCGTATCCAT	0.423																																					p.E79K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	7						.						68.0	66.0	67.0					7																	4901207		1945	4163	6108	4867733	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.232G>A	7.37:g.4901207C>T	ENSP00000384700:p.Glu78Lys		4867733	NM_020144	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	C	12.68	2.011799	0.35511	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	T	0.35128	0.0921	N	0.17312	0.475	0.80722	D	1	P	0.45986	0.87	B	0.38296	0.27	T	0.18555	-1.0333	8	0.30854	T	0.27	.	14.9451	0.71023	0.0:1.0:0.0:0.0	.	79	A4D1Z6	.	K	78	.	ENSP00000384700:E78K	E	-	1	0	PAPOLB	4867733	1.000000	0.71417	0.946000	0.38457	0.447000	0.32167	7.272000	0.78516	2.655000	0.90218	0.655000	0.94253	GAA		0.423	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144	
MMD2	221938	broad.mit.edu	37	7	4949628	4949628	+	Missense_Mutation	SNP	G	G	A	rs371331943		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:4949628G>A	ENST00000404774.3	-	6	687	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	MMD2_ENST00000401401.3_Intron|MMD2_ENST00000406755.1_Intron	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	165						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R165C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GCCTCCCCACGAAGAAACTGC	0.572																																					p.R165C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493T	7						.	G	CYS/ARG,	0,3988		0,0,1994	88.0	91.0	90.0		493,	0.7	0.0	7		90	1,8359		0,1,4179	no	missense,intron	MMD2	NM_001100600.1,NM_198403.3	180,	0,1,6173	AA,AG,GG		0.012,0.0,0.0081	benign,	165/271,	4949628	1,12347	1994	4180	6174	4916154	SO:0001583	missense	221938	exon6			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.493C>T	7.37:g.4949628G>A	ENSP00000384690:p.Arg165Cys		4916154	NM_001100600	B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	G	9.480	1.097912	0.20552	0.0	1.2E-4	ENSG00000136297	ENST00000404774	.	.	.	4.23	0.708	0.18144	.	8.371250	0.00465	U	0.000109	T	0.22437	0.0541	N	0.08118	0	0.09310	N	1	B	0.31968	0.349	B	0.32022	0.139	T	0.23404	-1.0189	9	0.51188	T	0.08	.	6.9992	0.24799	0.3943:0.0:0.6057:0.0	.	165	Q8IY49	PAQRA_HUMAN	C	165	.	ENSP00000384690:R165C	R	-	1	0	MMD2	4916154	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.081000	0.30791	-0.021000	0.14009	-0.212000	0.12691	CGT		0.572	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403	
EIF2AK1	27102	broad.mit.edu	37	7	6082580	6082580	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:6082580C>T	ENST00000199389.6	-	8	921	c.775G>A	c.(775-777)Gac>Aac	p.D259N	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.D135N	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.D259N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCTTCCTGGTCGGAGAGCACT	0.433																																					p.D258N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G772A	7						.						89.0	80.0	83.0					7																	6082580		2203	4300	6503	6049106	SO:0001583	missense	27102	exon8			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.775G>A	7.37:g.6082580C>T	ENSP00000199389:p.Asp259Asn		6049106	NM_001134335	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883257	0.33255	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.15256	2.44;2.44	5.26	4.39	0.52855	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.349316	0.30771	N	0.008918	T	0.08980	0.0222	N	0.13352	0.335	0.09310	N	1	B;B;B	0.27765	0.188;0.146;0.072	B;B;B	0.18561	0.008;0.022;0.01	T	0.27434	-1.0074	10	0.25751	T	0.34	-9.4957	9.7736	0.40605	0.0:0.9072:0.0:0.0928	.	135;258;259	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	N	259;135	ENSP00000199389:D259N;ENSP00000445784:D135N	ENSP00000199389:D259N	D	-	1	0	EIF2AK1	6049106	0.001000	0.12720	0.043000	0.18650	0.962000	0.63368	0.244000	0.18124	1.442000	0.47568	0.655000	0.94253	GAC		0.433	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413	
CYTH3	9265	broad.mit.edu	37	7	6210909	6210909	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:6210909C>T	ENST00000350796.3	-	7	622	c.486G>A	c.(484-486)gcG>gcA	p.A162A	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Silent_p.A77A	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	162	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.A162A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAATCTTCTGCGCCTCCCCGG	0.612																																					p.A162A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G486A	7						.						86.0	87.0	87.0					7																	6210909		2203	4300	6503	6177434	SO:0001819	synonymous_variant	9265	exon7			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.486G>A	7.37:g.6210909C>T			6177434	NM_004227	A4D2N8	Silent	SNP	ENST00000350796.3	37	CCDS5346.1																																																																																				0.612	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227	
C7orf26	79034	broad.mit.edu	37	7	6639778	6639778	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:6639778C>T	ENST00000344417.5	+	4	1166	c.899C>T	c.(898-900)aCg>aTg	p.T300M	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Missense_Mutation_p.T203M	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	300								p.T300M(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GTGCTCATGACGCTGCAGCTG	0.582																																					p.T300M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899T	7						.						63.0	50.0	55.0					7																	6639778		2203	4300	6503	6606303	SO:0001583	missense	79034	exon4			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.899C>T	7.37:g.6639778C>T	ENSP00000340220:p.Thr300Met		6606303	NM_024067	Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	C	9.445	1.088949	0.20390	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.44083	0.93;0.94	5.08	4.06	0.47325	.	0.401569	0.32624	N	0.005844	T	0.14227	0.0344	N	0.01705	-0.755	0.23386	N	0.997781	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.12116	-1.0560	10	0.22706	T	0.39	-10.8557	3.8508	0.08954	0.0:0.2904:0.0:0.7096	.	203;300	Q96N11-2;Q96N11	.;CG026_HUMAN	M	300;203	ENSP00000340220:T300M;ENSP00000351974:T203M	ENSP00000340220:T300M	T	+	2	0	C7orf26	6606303	1.000000	0.71417	0.236000	0.24074	0.755000	0.42902	4.318000	0.59190	1.244000	0.43870	0.555000	0.69702	ACG		0.582	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067	
ISPD	729920	broad.mit.edu	37	7	16255805	16255805	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:16255805A>C	ENST00000407010.2	-	9	1136	c.1137T>G	c.(1135-1137)ttT>ttG	p.F379L	ISPD-AS1_ENST00000579293.1_RNA|ISPD-AS1_ENST00000457112.1_RNA|ISPD-AS1_ENST00000582683.1_RNA|ISPD-AS1_ENST00000438573.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.F329L	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	379					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.F379L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GTACTAATTTAAAATCAAGAA	0.308										Multiple Myeloma(15;0.18)																											p.F329L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T987G	7						.						39.0	36.0	37.0					7																	16255805		1791	4051	5842	16222330	SO:0001583	missense	729920	exon8			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.1137T>G	7.37:g.16255805A>C	ENSP00000385478:p.Phe379Leu		16222330	NM_001101417	A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37		.	.	.	.	.	.	.	.	.	.	A	8.649	0.897883	0.17686	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.85411	-1.97;-1.98	5.22	0.0812	0.14424	.	.	.	.	.	T	0.66839	0.2830	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.57300	-0.7835	9	0.66056	D	0.02	-2.7714	3.8051	0.08774	0.4839:0.197:0.3191:0.0	.	379	A4D126	ISPD_HUMAN	L	379;329	ENSP00000385478:F379L;ENSP00000382249:F329L	ENSP00000382249:F329L	F	-	3	2	ISPD	16222330	0.010000	0.17322	0.112000	0.21494	0.698000	0.40448	0.119000	0.15626	0.405000	0.25532	0.482000	0.46254	TTT		0.308	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426	
TSPAN13	27075	broad.mit.edu	37	7	16818629	16818629	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:16818629G>A	ENST00000262067.4	+	5	861	c.428G>A	c.(427-429)aGc>aAc	p.S143N	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	143						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.S143N(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TTGGTGCAGAGCTGTGTTAAA	0.363																																					p.S143N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G428A	7						.						110.0	106.0	107.0					7																	16818629		2203	4300	6503	16785154	SO:0001630	splice_region_variant	27075	exon5			AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.427-1G>A	7.37:g.16818629G>A			16785154	NM_014399		Missense_Mutation	SNP	ENST00000262067.4	37	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	G	6.168	0.399206	0.11696	.	.	ENSG00000106537	ENST00000262067	D	0.87491	-2.26	5.75	4.87	0.63330	.	0.403644	0.32852	N	0.005571	T	0.81331	0.4800	L	0.47190	1.495	0.28802	N	0.898732	B	0.16396	0.017	B	0.19666	0.026	T	0.71935	-0.4442	10	0.36615	T	0.2	-16.0991	7.4117	0.27021	0.2253:0.0:0.7747:0.0	.	143	O95857	TSN13_HUMAN	N	143	ENSP00000262067:S143N	ENSP00000262067:S143N	S	+	2	0	TSPAN13	16785154	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	1.078000	0.30754	1.436000	0.47453	0.561000	0.74099	AGC		0.363	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399	Missense_Mutation
HDAC9	9734	broad.mit.edu	37	7	18629967	18629967	+	Splice_Site	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:18629967G>T	ENST00000432645.2	+	3	264		c.e3-1		HDAC9_ENST00000524023.1_Splice_Site|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000441542.2_Missense_Mutation_p.Q91H|HDAC9_ENST00000456174.2_Missense_Mutation_p.Q60H|HDAC9_ENST00000428307.2_Splice_Site|HDAC9_ENST00000406072.1_Missense_Mutation_p.Q119H|HDAC9_ENST00000401921.1_Missense_Mutation_p.Q91H|HDAC9_ENST00000417496.2_Splice_Site|HDAC9_ENST00000406451.4_Splice_Site|HDAC9_ENST00000405010.3_Splice_Site	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						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.Q91H(1)		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)	AGTTGCAACAGGAACTTCTAG	0.433																																					p.Q91H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G273T	7						.						52.0	52.0	52.0					7																	18629967		1968	4151	6119	18596492	SO:0001630	splice_region_variant	9734	exon3			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.265-1G>T	7.37:g.18629967G>T			18596492	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.764246|3.764246	0.69878|0.69878	.|.	.|.	ENSG00000048052|ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000432645;ENST00000441986;ENST00000524023;ENST00000341009|ENST00000413509;ENST00000413380;ENST00000430454;ENST00000406072;ENST00000401921;ENST00000441542;ENST00000456174	.|T;T;T;T;T;T	.|0.61392	.|0.7;0.75;0.62;0.14;0.11;0.66	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.51477	.|D	.|0.000095	.|T	.|0.68705	.|0.3030	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|B;P;B;B;B;B;B	.|0.38677	.|0.028;0.642;0.014;0.324;0.101;0.014;0.123	.|B;P;B;B;B;B;B	.|0.51516	.|0.064;0.672;0.019;0.095;0.095;0.019;0.154	.|T	.|0.70788	.|-0.4777	.|10	.|0.87932	.|D	.|0	.|-24.7256	13.1821|13.1821	0.59660|0.59660	0.0727:0.0:0.9273:0.0|0.0727:0.0:0.9273:0.0	.|.	.|60;119;91;91;91;60;110	.|C9JS87;B5MCF1;Q68D71;Q9UKV0-6;Q9UKV0-7;B7Z928;Q8N879	.|.;.;.;.;.;.;.	.|H	-1|91;91;60;119;91;91;60	.|ENSP00000412497:Q91H;ENSP00000392564:Q91H;ENSP00000384017:Q119H;ENSP00000383912:Q91H;ENSP00000408617:Q91H;ENSP00000388568:Q60H	.|ENSP00000383912:Q91H	.|Q	+|+	.|3	.|2	HDAC9|HDAC9	18596492|18596492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.041000|6.041000	0.70988|0.70988	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	.|CAG		0.433	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		Intron
HDAC9	9734	broad.mit.edu	37	7	18993807	18993807	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:18993807G>A	ENST00000432645.2	+	23	2967	c.2967G>A	c.(2965-2967)ccG>ccA	p.P989P	HDAC9_ENST00000441542.2_Silent_p.P992P|HDAC9_ENST00000401921.1_Silent_p.P948P|HDAC9_ENST00000406451.4_Silent_p.P989P	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	989					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.P992P(1)		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)	ACCAAAGCCCGAATATGAATG	0.318																																					p.P989P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2967A	7						.						33.0	32.0	32.0					7																	18993807		1813	4069	5882	18960332	SO:0001819	synonymous_variant	9734	exon24			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.2967G>A	7.37:g.18993807G>A			18960332	NM_178423	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																				0.318	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
ITGB8	3696	broad.mit.edu	37	7	20420428	20420428	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:20420428G>A	ENST00000222573.4	+	5	1459	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	ITGB8_ENST00000537992.1_Missense_Mutation_p.A124T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	259	VWFA.				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.A259T(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						AGGTTTTGACGCCATGCTTCA	0.408																																					p.A259T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G775A	7						.						146.0	130.0	135.0					7																	20420428		2203	4300	6503	20386953	SO:0001583	missense	3696	exon5				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.775G>A	7.37:g.20420428G>A	ENSP00000222573:p.Ala259Thr		20386953	NM_002214	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	36	5.969433	0.97156	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.95853	-3.83;-3.83	6.07	6.07	0.98685	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98648	1.0678	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	259;259	P26012;Q9BUG9	ITB8_HUMAN;.	T	124;259	ENSP00000441561:A124T;ENSP00000222573:A259T	ENSP00000222573:A259T	A	+	1	0	ITGB8	20386953	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GCC		0.408	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
ABCB5	340273	broad.mit.edu	37	7	20687197	20687197	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:20687197G>A	ENST00000404938.2	+	10	1673	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000258738.6_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	341	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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						TTGCATTGGAGCAGCAGTCCC	0.368																																					p.A341T												.	.	0			c.G1021A	7						.						92.0	80.0	84.0					7																	20687197		1567	3581	5148	20653722	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.1021G>A	7.37:g.20687197G>A	ENSP00000384881:p.Ala341Thr		20653722	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472653	0.43942	.	.	ENSG00000004846	ENST00000404938	T	0.80393	-1.37	4.09	0.827	0.18835	.	.	.	.	.	T	0.50154	0.1599	N	0.01779	-0.725	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.33979	-0.9847	9	0.48119	T	0.1	.	1.1467	0.01777	0.2007:0.2519:0.3906:0.1568	.	341	A7BKA4	.	T	341	ENSP00000384881:A341T	ENSP00000384881:A341T	A	+	1	0	ABCB5	20653722	0.815000	0.29118	0.987000	0.45799	0.986000	0.74619	1.426000	0.34870	0.149000	0.19098	0.655000	0.94253	GCA		0.368	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
ABCB5	340273	broad.mit.edu	37	7	20721180	20721180	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:20721180G>A	ENST00000404938.2	+	15	2412	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R142Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	587	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	p.R142Q(1)		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						TCTACTATTCGAAGTGCAGAT	0.403																																					p.R142Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425A	7						.						145.0	129.0	134.0					7																	20721180		2203	4300	6503	20687705	SO:0001583	missense	340273	exon6			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.1760G>A	7.37:g.20721180G>A	ENSP00000384881:p.Arg587Gln		20687705	NM_178559	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938015	0.34189	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.73681	-0.77;-0.77	4.67	3.79	0.43588	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.268702	0.25564	N	0.029806	T	0.60958	0.2309	L	0.28740	0.885	0.43084	D	0.994744	P;B	0.34977	0.478;0.269	B;B	0.32149	0.141;0.048	T	0.65253	-0.6213	10	0.56958	D	0.05	.	11.3876	0.49796	0.0889:0.0:0.9111:0.0	.	587;142	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	Q	587;142	ENSP00000384881:R587Q;ENSP00000258738:R142Q	ENSP00000258738:R142Q	R	+	2	0	ABCB5	20687705	0.963000	0.33076	0.784000	0.31847	0.030000	0.12068	3.190000	0.50973	1.576000	0.49790	0.655000	0.94253	CGA		0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
DNAH11	8701	broad.mit.edu	37	7	21627706	21627706	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:21627706C>T	ENST00000409508.3	+	10	1766	c.1735C>T	c.(1735-1737)Cta>Tta	p.L579L	DNAH11_ENST00000328843.6_Silent_p.L579L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	579	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.L579L(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						TGGAAATTTTCTAGAGAAGCC	0.348									Kartagener syndrome																												p.L579L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1735T	7						.						79.0	76.0	77.0					7																	21627706		1816	4081	5897	21594231	SO:0001819	synonymous_variant	8701	exon10	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.1735C>T	7.37:g.21627706C>T			21594231	NM_003777	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21840765	21840765	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:21840765G>A	ENST00000409508.3	+	62	10068	c.10037G>A	c.(10036-10038)cGa>cAa	p.R3346Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3353Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3353	Stalk. {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.R3353Q(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						GATCTGGATCGAAATCTGAGC	0.368									Kartagener syndrome																												p.S3353S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10059A	7						.						44.0	42.0	43.0					7																	21840765		1896	4131	6027	21807290	SO:0001583	missense	8701	exon62	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.10037G>A	7.37:g.21840765G>A	ENSP00000475939:p.Arg3346Gln		21807290	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	13.61	2.288715	0.40494	.	.	ENSG00000105877	ENST00000328843	T	0.74002	-0.8	6.07	1.29	0.21616	Dynein heavy chain, coiled coil stalk (1);	1.179400	0.05876	N	0.625592	T	0.51244	0.1663	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.15052	0.012	T	0.32903	-0.9889	9	0.15499	T	0.54	.	1.1582	0.01800	0.2838:0.278:0.2988:0.1394	.	3353	Q96DT5	DYH11_HUMAN	Q	3353	ENSP00000330671:R3353Q	ENSP00000330671:R3353Q	R	+	2	0	DNAH11	21807290	0.012000	0.17670	0.940000	0.37924	0.997000	0.91878	0.213000	0.17521	0.330000	0.23485	0.655000	0.94253	CGA		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21932115	21932115	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:21932115T>C	ENST00000409508.3	+	77	12611	c.12580T>C	c.(12580-12582)Tac>Cac	p.Y4194H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y4201H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4201					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.Y4201H(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						CTACCACCAGTACATAGAGGA	0.483									Kartagener syndrome																												p.V4201A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T12602C	7						.						162.0	157.0	158.0					7																	21932115		1926	4139	6065	21898640	SO:0001583	missense	8701	exon77	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.12580T>C	7.37:g.21932115T>C	ENSP00000475939:p.Tyr4194His		21898640	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.138267	0.77775	.	.	ENSG00000105877	ENST00000328843	T	0.12039	2.72	5.97	5.97	0.96955	Dynein heavy chain (1);	0.056710	0.64402	D	0.000001	T	0.34571	0.0902	.	.	.	0.52501	D	0.999955	D	0.89917	1.0	D	0.76071	0.987	T	0.03933	-1.0991	9	0.45353	T	0.12	.	11.4667	0.50243	0.0:0.0714:0.0:0.9286	.	4201	Q96DT5	DYH11_HUMAN	H	4201	ENSP00000330671:Y4201H	ENSP00000330671:Y4201H	Y	+	1	0	DNAH11	21898640	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	6.304000	0.72800	2.288000	0.76882	0.533000	0.62120	TAC		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
CDCA7L	55536	broad.mit.edu	37	7	21941964	21941964	+	Missense_Mutation	SNP	T	T	G	rs16891988	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:21941964T>G	ENST00000406877.3	-	10	1620	c.1341A>C	c.(1339-1341)caA>caC	p.Q447H	CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000356195.5_Missense_Mutation_p.Q413H|CDCA7L_ENST00000373934.4_Missense_Mutation_p.Q401H	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	447					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.Q447H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CCAGCTCCTTTTGTAAGCTGG	0.388																																					p.Q401H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1203C	7						.						168.0	144.0	152.0					7																	21941964		2203	4300	6503	21908489	SO:0001583	missense	55536	exon9				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1341A>C	7.37:g.21941964T>G	ENSP00000383986:p.Gln447His		21908489	NM_001127371	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657570	0.67586	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.47528	0.84;0.84;0.85	5.68	-9.7	0.00521	.	0.060609	0.64402	D	0.000002	T	0.58793	0.2147	L	0.57536	1.79	0.39482	D	0.967907	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.72075	0.969;0.942;0.976	T	0.77608	-0.2524	10	0.72032	D	0.01	-25.3659	21.0639	0.99945	0.0:0.7864:0.0:0.2136	.	401;447;446	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	H	413;447;401	ENSP00000348523:Q413H;ENSP00000383986:Q447H;ENSP00000363045:Q401H	ENSP00000348523:Q413H	Q	-	3	2	CDCA7L	21908489	0.533000	0.26354	0.485000	0.27403	0.894000	0.52154	-0.876000	0.04201	-1.934000	0.01051	-1.007000	0.02485	CAA		0.388	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
IGF2BP3	10643	broad.mit.edu	37	7	23358784	23358784	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:23358784A>C	ENST00000258729.3	-	11	1649	c.1293T>G	c.(1291-1293)ctT>ctG	p.L431L		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	431	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.L431L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CAAAGCGAGAAAGCTGCTTGA	0.438																																					p.L431L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1293G	7						.						109.0	101.0	104.0					7																	23358784		2203	4300	6503	23325309	SO:0001819	synonymous_variant	10643	exon11			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1293T>G	7.37:g.23358784A>C			23325309	NM_006547	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	CCDS5382.1																																																																																				0.438	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
STK31	56164	broad.mit.edu	37	7	23776605	23776605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:23776605G>T	ENST00000355870.3	+	8	1044	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	STK31_ENST00000428484.1_Nonsense_Mutation_p.E286*|STK31_ENST00000354639.3_Nonsense_Mutation_p.E286*|STK31_ENST00000433467.2_Nonsense_Mutation_p.E309*|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	309						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E309*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTGATTGAAGAAAATGAAAA	0.378																																					p.E286X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G856T	7						.						79.0	80.0	79.0					7																	23776605		2203	4300	6503	23743130	SO:0001587	stop_gained	56164	exon8			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.925G>T	7.37:g.23776605G>T	ENSP00000348132:p.Glu309*		23743130	NM_001122833	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	38	7.016828	0.98006	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.3235	17.1129	0.86680	0.0:0.0:1.0:0.0	.	.	.	.	X	309;309;286;286	.	ENSP00000346660:E286X	E	+	1	0	STK31	23743130	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.548000	0.67255	2.855000	0.98099	0.603000	0.83216	GAA		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
STK31	56164	broad.mit.edu	37	7	23808689	23808689	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:23808689T>A	ENST00000355870.3	+	12	1611	c.1492T>A	c.(1492-1494)Ttt>Att	p.F498I	STK31_ENST00000428484.1_Missense_Mutation_p.F475I|STK31_ENST00000354639.3_Missense_Mutation_p.F475I|STK31_ENST00000433467.2_Missense_Mutation_p.F498I|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	498						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.F498I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTTAAAAAATTTTATGACTG	0.388																																					p.F475I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1423A	7						.						83.0	90.0	88.0					7																	23808689		2203	4299	6502	23775214	SO:0001583	missense	56164	exon12			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1492T>A	7.37:g.23808689T>A	ENSP00000348132:p.Phe498Ile		23775214	NM_001122833	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161050	0.78226	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	D;T;D;D	0.84516	-1.86;-0.09;-1.82;-1.82	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.91074	0.7191	M	0.68952	2.095	0.47584	D	0.999463	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.92035	0.5636	10	0.87932	D	0	-17.2074	14.0637	0.64815	0.0:0.0:0.0:1.0	.	498;498	B4DZ06;Q9BXU1	.;STK31_HUMAN	I	498;498;475;475	ENSP00000348132:F498I;ENSP00000411852:F498I;ENSP00000346660:F475I;ENSP00000406146:F475I	ENSP00000346660:F475I	F	+	1	0	STK31	23775214	1.000000	0.71417	0.938000	0.37757	0.633000	0.38033	4.798000	0.62510	1.994000	0.58287	0.533000	0.62120	TTT		0.388	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
STK31	56164	broad.mit.edu	37	7	23826535	23826535	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:23826535A>C	ENST00000355870.3	+	20	2598	c.2479A>C	c.(2479-2481)Aat>Cat	p.N827H	STK31_ENST00000428484.1_Missense_Mutation_p.N804H|STK31_ENST00000354639.3_Missense_Mutation_p.N804H|STK31_ENST00000433467.2_Missense_Mutation_p.N827H|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.N827H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATGCCTTTAAATTCAGAAGT	0.353																																					p.N804H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2410C	7						.						153.0	142.0	146.0					7																	23826535		2203	4300	6503	23793060	SO:0001583	missense	56164	exon20			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2479A>C	7.37:g.23826535A>C	ENSP00000348132:p.Asn827His		23793060	NM_001122833	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398277	0.25205	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.74526	-0.85;2.04;-0.85;-0.85	5.45	2.68	0.31781	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.402860	0.27460	N	0.019263	T	0.69663	0.3136	L	0.39397	1.21	0.22171	N	0.999314	P;P	0.49253	0.873;0.921	P;P	0.48488	0.478;0.579	T	0.61412	-0.7068	10	0.41790	T	0.15	-7.0405	11.317	0.49399	0.7449:0.0:0.0:0.2551	.	827;827	B4DZ06;Q9BXU1	.;STK31_HUMAN	H	827;827;804;804	ENSP00000348132:N827H;ENSP00000411852:N827H;ENSP00000346660:N804H;ENSP00000406146:N804H	ENSP00000346660:N804H	N	+	1	0	STK31	23793060	1.000000	0.71417	0.999000	0.59377	0.008000	0.06430	1.383000	0.34385	0.864000	0.35578	0.477000	0.44152	AAT		0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
MPP6	51678	broad.mit.edu	37	7	24689307	24689307	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:24689307C>A	ENST00000222644.5	+	4	597	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	MPP6_ENST00000409761.1_Missense_Mutation_p.S4Y|MPP6_ENST00000396475.2_Missense_Mutation_p.S116Y			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.S116Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGAATAATTCTTCTATCAAT	0.398																																					p.S116Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C347A	7						.						118.0	116.0	116.0					7																	24689307		2203	4300	6503	24655832	SO:0001583	missense	51678	exon5			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.347C>A	7.37:g.24689307C>A	ENSP00000222644:p.Ser116Tyr		24655832	NM_016447	B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905818	0.33628	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	T;T;T;T;T	0.15487	2.42;3.44;3.18;3.44;2.43	4.19	3.28	0.37604	PDZ/DHR/GLGF (1);	0.268744	0.26359	N	0.024836	T	0.14874	0.0359	L	0.36672	1.1	0.33522	D	0.592462	B	0.10296	0.003	B	0.11329	0.006	T	0.08617	-1.0713	10	0.41790	T	0.15	.	13.2977	0.60307	0.1598:0.8402:0.0:0.0	.	116	Q9NZW5	MPP6_HUMAN	Y	116;116;4;116;116	ENSP00000395859:S116Y;ENSP00000222644:S116Y;ENSP00000386262:S4Y;ENSP00000379737:S116Y;ENSP00000391020:S116Y	ENSP00000222644:S116Y	S	+	2	0	MPP6	24655832	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	1.848000	0.39309	0.836000	0.34901	0.643000	0.83706	TCT		0.398	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
MPP6	51678	broad.mit.edu	37	7	24690173	24690173	+	Nonsense_Mutation	SNP	C	C	T	rs565671330		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:24690173C>T	ENST00000222644.5	+	5	743	c.493C>T	c.(493-495)Cga>Tga	p.R165*	MPP6_ENST00000409761.1_Nonsense_Mutation_p.R53*|MPP6_ENST00000396475.2_Nonsense_Mutation_p.R165*			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R165*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AATGATAGATCGACAAGGTCT	0.348																																					p.R165X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C493T	7						.						92.0	97.0	95.0					7																	24690173		2203	4300	6503	24656698	SO:0001587	stop_gained	51678	exon6			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.493C>T	7.37:g.24690173C>T	ENSP00000222644:p.Arg165*		24656698	NM_016447	B2RAF0	Nonsense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	C	37	5.985083	0.97173	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	.	.	.	6.06	6.06	0.98353	.	0.000000	0.47093	D	0.000244	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8014	0.92018	0.0:1.0:0.0:0.0	.	.	.	.	X	165;165;53;165;165	.	ENSP00000222644:R165X	R	+	1	2	MPP6	24656698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.900000	0.48687	2.882000	0.98803	0.655000	0.94253	CGA		0.348	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
NPVF	64111	broad.mit.edu	37	7	25266339	25266339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:25266339G>A	ENST00000222674.2	-	2	491	c.445C>T	c.(445-447)Caa>Taa	p.Q149*		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	149					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.Q149*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATGGATCCTTGACACAAATCA	0.463																																					p.Q149X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C445T	7						.						244.0	227.0	233.0					7																	25266339		2203	4300	6503	25232864	SO:0001587	stop_gained	64111	exon2			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.445C>T	7.37:g.25266339G>A	ENSP00000222674:p.Gln149*		25232864	NM_022150	A4D164|Q7LE27|Q96PI9	Nonsense_Mutation	SNP	ENST00000222674.2	37	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.401169	0.62288	.	.	ENSG00000105954	ENST00000222674	.	.	.	5.46	4.56	0.56223	.	0.114107	0.40302	N	0.001136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.3125	13.7375	0.62827	0.0:0.0:0.8457:0.1543	.	.	.	.	X	149	.	ENSP00000222674:Q149X	Q	-	1	0	NPVF	25232864	1.000000	0.71417	0.004000	0.12327	0.008000	0.06430	2.710000	0.47169	1.401000	0.46761	0.655000	0.94253	CAA		0.463	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150	
CREB5	9586	broad.mit.edu	37	7	28547292	28547292	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:28547292C>T	ENST00000357727.2	+	4	618	c.228C>T	c.(226-228)agC>agT	p.S76S	CREB5_ENST00000409603.1_Silent_p.S43S|CREB5_ENST00000396299.2_Silent_p.S43S|CREB5_ENST00000396300.2_Silent_p.S69S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	76					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S76S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GCCTCTTCAGCGAGCTGGACT	0.547																																					p.S69S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207T	7						.						106.0	112.0	110.0					7																	28547292		2203	4300	6503	28513817	SO:0001819	synonymous_variant	9586	exon4			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.228C>T	7.37:g.28547292C>T			28513817	NM_004904	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	CCDS5417.1																																																																																				0.547	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	
MTURN	222166	broad.mit.edu	37	7	30174815	30174815	+	Silent	SNP	C	C	A	rs375515182		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:30174815C>A	ENST00000324453.8	+	1	390	c.63C>A	c.(61-63)ctC>ctA	p.L21L	C7orf41_ENST00000415604.1_Silent_p.L21L|C7orf41_ENST00000409688.1_Silent_p.L21L	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		21					multicellular organismal development (GO:0007275)			p.L21L(1)		NS(1)|large_intestine(2)	3						CCTTCGAGCTCATCGCCACCG	0.662																																					p.L21L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C63A	7						.						22.0	29.0	27.0					7																	30174815		2178	4278	6456	30141340	SO:0001819	synonymous_variant	222166	exon1																														ENST00000324453.8:c.63C>A	7.37:g.30174815C>A			30141340	NM_152793	B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Silent	SNP	ENST00000324453.8	37	CCDS5425.2																																																																																				0.662	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1		
GARS	2617	broad.mit.edu	37	7	30638491	30638491	+	Missense_Mutation	SNP	G	G	A	rs200887429		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:30638491G>A	ENST00000389266.3	+	2	543	c.302G>A	c.(301-303)cGc>cAc	p.R101H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	101	WHEP-TRS. {ECO:0000255|PROSITE- ProRule:PRU00531}.				cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.R101H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTCAAAGCCCGCAAGAGGGTT	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17878	0.0		0.0	False		,,,				2504	0.0				p.R101H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G302A	7						.	G	HIS/ARG	0,3736		0,0,1868	58.0	61.0	60.0		302	5.3	1.0	7		60	2,8180		0,2,4089	yes	missense	GARS	NM_002047.2	29	0,2,5957	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging	101/740	30638491	2,11916	1868	4091	5959	30605016	SO:0001583	missense	2617	exon2			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.302G>A	7.37:g.30638491G>A	ENSP00000373918:p.Arg101His		30605016	NM_002047	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.4	5.001794	0.93227	0.0	2.44E-4	ENSG00000106105	ENST00000389266	T	0.32272	1.46	5.29	5.29	0.74685	WHEP-TRS (3);S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.61811	-0.6986	10	0.49607	T	0.09	-14.9233	14.8101	0.69989	0.0:0.0:1.0:0.0	.	101	P41250	SYG_HUMAN	H	101	ENSP00000373918:R101H	ENSP00000373918:R101H	R	+	2	0	GARS	30605016	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.224000	0.95209	2.662000	0.90505	0.655000	0.94253	CGC		0.433	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
NEUROD6	63974	broad.mit.edu	37	7	31378320	31378320	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:31378320A>G	ENST00000297142.3	-	2	885	c.563T>C	c.(562-564)tTc>tCc	p.F188S		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	188					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.F188S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ACCCATCAGGAAACTCCTGGC	0.562																																					p.F188S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T563C	7						.						106.0	82.0	90.0					7																	31378320		2203	4300	6503	31344845	SO:0001583	missense	63974	exon2			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.563T>C	7.37:g.31378320A>G	ENSP00000297142:p.Phe188Ser		31344845	NM_022728	Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362582	0.61403	.	.	ENSG00000164600	ENST00000297142	T	0.68331	-0.32	5.16	5.16	0.70880	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.81898	0.4920	M	0.81942	2.565	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.83398	0.0021	10	0.48119	T	0.1	-16.8015	15.2984	0.73928	1.0:0.0:0.0:0.0	.	188	Q96NK8	NDF6_HUMAN	S	188	ENSP00000297142:F188S	ENSP00000297142:F188S	F	-	2	0	NEUROD6	31344845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.078000	0.62432	0.528000	0.53228	TTC		0.562	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728	
BBS9	27241	broad.mit.edu	37	7	33195257	33195257	+	Missense_Mutation	SNP	G	G	A	rs541526329		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:33195257G>A	ENST00000242067.6	+	4	792	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	BBS9_ENST00000355070.2_Missense_Mutation_p.E91K|BBS9_ENST00000350941.3_Missense_Mutation_p.E91K|BBS9_ENST00000425508.2_Missense_Mutation_p.E46K|BBS9_ENST00000354265.4_Missense_Mutation_p.E91K|BBS9_ENST00000396127.2_Missense_Mutation_p.E91K	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	91					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.E91K(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CAGAGGTACCGAAATGCTACA	0.289									Bardet-Biedl syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		17609	0.0		0.0	False		,,,				2504	0.001				p.E91K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G271A	7						.						76.0	74.0	74.0					7																	33195257		2203	4296	6499	33161782	SO:0001583	missense	27241	exon4	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.271G>A	7.37:g.33195257G>A	ENSP00000242067:p.Glu91Lys		33161782	NM_001033605	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020922	0.93462	.	.	ENSG00000122507	ENST00000432983;ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	4.95	4.95	0.65309	.	0.050230	0.85682	D	0.000000	D	0.90208	0.6939	M	0.69823	2.125	0.49389	D	0.999784	D;D;D;D;D	0.76494	0.998;0.989;0.989;0.989;0.999	P;P;P;P;D	0.69479	0.806;0.768;0.759;0.705;0.964	D	0.90008	0.4119	10	0.49607	T	0.09	-25.2975	18.6673	0.91495	0.0:0.0:1.0:0.0	.	91;91;91;91;91	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	K	91;91;91;91;91;91;91;91;46	ENSP00000415794:E91K;ENSP00000242067:E91K;ENSP00000313122:E91K;ENSP00000379433:E91K;ENSP00000347182:E91K;ENSP00000346214:E91K;ENSP00000405151:E46K	ENSP00000242067:E91K	E	+	1	0	BBS9	33161782	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.927000	0.87577	2.682000	0.91365	0.557000	0.71058	GAA		0.289	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		
KIAA0895	23366	broad.mit.edu	37	7	36366506	36366506	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:36366506G>A	ENST00000297063.6	-	7	1476	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	KIAA0895_ENST00000338533.5_Missense_Mutation_p.R463C|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R231C|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R373C|KIAA0895_ENST00000317020.6_Missense_Mutation_p.R425C|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R473C	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	476								p.R476C(1)|p.R463C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTTTTAAGCGATCCACATCT	0.383																																					p.R476C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1426T	7						.						124.0	117.0	119.0					7																	36366506		1851	4090	5941	36333031	SO:0001583	missense	23366	exon7			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1426C>T	7.37:g.36366506G>A	ENSP00000297063:p.Arg476Cys		36333031	NM_001100425	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184387	0.94885	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.5	5.5	0.81552	.	0.100266	0.64402	D	0.000001	T	0.79052	0.4381	M	0.65498	2.005	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	0.75484	0.976;0.97;0.986;0.938;0.938	T	0.79843	-0.1632	9	0.72032	D	0.01	-27.5894	19.7724	0.96370	0.0:0.0:1.0:0.0	.	473;373;476;463;425	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	C	476;463;425;473;373;231	.	ENSP00000297063:R476C	R	-	1	0	KIAA0895	36333031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.964000	0.70379	2.762000	0.94881	0.655000	0.94253	CGC		0.383	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314	
ANLN	54443	broad.mit.edu	37	7	36435888	36435888	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:36435888G>A	ENST00000265748.2	+	2	253	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ANLN_ENST00000396068.2_Missense_Mutation_p.R11Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	11	Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.				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.R11Q(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTGCTGGAGCGAACCCGTGCC	0.418																																					p.R11Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G32A	7						.						45.0	48.0	47.0					7																	36435888		2203	4300	6503	36402413	SO:0001583	missense	54443	exon2			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.32G>A	7.37:g.36435888G>A	ENSP00000265748:p.Arg11Gln		36402413	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724758	0.96847	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.49432	0.78;0.78	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	M	0.75264	2.295	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.73297	-0.4027	10	0.87932	D	0	-13.1272	19.774	0.96385	0.0:0.0:1.0:0.0	.	11;11;11	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	Q	11	ENSP00000265748:R11Q;ENSP00000379380:R11Q	ENSP00000265748:R11Q	R	+	2	0	ANLN	36402413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.319000	0.89992	2.679000	0.91253	0.591000	0.81541	CGA		0.418	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
ANLN	54443	broad.mit.edu	37	7	36492190	36492190	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:36492190A>C	ENST00000265748.2	+	24	3577	c.3356A>C	c.(3355-3357)aAa>aCa	p.K1119T	ANLN_ENST00000396068.2_Missense_Mutation_p.K1082T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1119	Localization to the cleavage furrow.				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.K1119T(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTTGCTACAAACCTATTGGA	0.408																																					p.K1119T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3356C	7						.						251.0	266.0	261.0					7																	36492190		2203	4300	6503	36458715	SO:0001583	missense	54443	exon24			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.3356A>C	7.37:g.36492190A>C	ENSP00000265748:p.Lys1119Thr		36458715	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.259230	0.59321	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.13778	2.56;2.59	5.82	5.82	0.92795	.	0.201239	0.51477	D	0.000091	T	0.07324	0.0185	N	0.08118	0	0.42079	D	0.991242	P;P;P;P	0.40909	0.732;0.611;0.731;0.611	B;B;B;B	0.39531	0.283;0.159;0.302;0.159	T	0.17930	-1.0353	10	0.72032	D	0.01	-20.2114	6.4294	0.21788	0.7879:0.0:0.0723:0.1399	.	996;1081;1082;1119	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	T	1119;1082	ENSP00000265748:K1119T;ENSP00000379380:K1082T	ENSP00000265748:K1119T	K	+	2	0	ANLN	36458715	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.369000	0.52365	2.222000	0.72286	0.533000	0.62120	AAA		0.408	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
AOAH	313	broad.mit.edu	37	7	36580017	36580017	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:36580017G>A	ENST00000258749.5	-	16	1613	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	AOAH_ENST00000538464.1_Missense_Mutation_p.S127F|AOAH_ENST00000535891.1_Missense_Mutation_p.S373F|AOAH_ENST00000431169.1_Missense_Mutation_p.S405F|AOAH_ENST00000491444.1_5'UTR	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	405					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.S405F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGGCAGGTGGGAATTTAGATG	0.463																																					p.S405F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1214T	7						.						126.0	112.0	117.0					7																	36580017		2203	4300	6503	36546542	SO:0001583	missense	313	exon16			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1214C>T	7.37:g.36580017G>A	ENSP00000258749:p.Ser405Phe		36546542	NM_001637	A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765460	0.49574	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.98	5.98	0.97165	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.478469	0.21175	N	0.078905	T	0.38983	0.1061	.	.	.	0.09310	N	0.999998	D;D;D	0.76494	0.984;0.999;0.966	P;D;P	0.67103	0.876;0.949;0.694	T	0.24941	-1.0146	9	0.87932	D	0	.	13.5457	0.61702	0.0:0.1559:0.8441:0.0	.	373;405;405	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	F	127;373;405;405;405	ENSP00000439283:S127F;ENSP00000441101:S373F;ENSP00000258749:S405F;ENSP00000405683:S405F	ENSP00000258749:S405F	S	-	2	0	AOAH	36546542	1.000000	0.71417	0.380000	0.26093	0.234000	0.25298	3.827000	0.55745	2.838000	0.97847	0.655000	0.94253	TCC		0.463	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637	
NME8	51314	broad.mit.edu	37	7	37916472	37916472	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:37916472T>C	ENST00000199447.4	+	12	1229	c.857T>C	c.(856-858)cTc>cCc	p.L286P	NME8_ENST00000440017.1_Missense_Mutation_p.L286P|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	286					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.L286P(1)									TTAGCTCAGCTCTGTGACATT	0.318																																					p.L286P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T857C	7						.						66.0	69.0	68.0					7																	37916472		2203	4300	6503	37882997	SO:0001583	missense	51314	exon12			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.857T>C	7.37:g.37916472T>C	ENSP00000199447:p.Leu286Pro		37882997	NM_016616	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	T	2.576	-0.298599	0.05532	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.46063	0.88;0.88	4.12	1.65	0.23941	.	0.294781	0.24544	N	0.037604	T	0.24890	0.0604	N	0.14661	0.345	0.09310	N	0.99999	B	0.29136	0.234	B	0.35073	0.195	T	0.17258	-1.0375	10	0.36615	T	0.2	-12.0191	6.7373	0.23417	0.4002:0.0:0.0:0.5998	.	286	Q8N427	TXND3_HUMAN	P	286	ENSP00000199447:L286P;ENSP00000397063:L286P	ENSP00000199447:L286P	L	+	2	0	TXNDC3	37882997	0.744000	0.28250	0.123000	0.21794	0.001000	0.01503	0.879000	0.28146	0.342000	0.23796	-0.349000	0.07799	CTC		0.318	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
NME8	51314	broad.mit.edu	37	7	37927881	37927881	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:37927881T>G	ENST00000199447.4	+	15	1622	c.1250T>G	c.(1249-1251)tTa>tGa	p.L417*	NME8_ENST00000440017.1_Nonsense_Mutation_p.L417*|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	417	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.L417*(1)									TTTCAAAGTTTATGTGCACAG	0.348																																					p.L417X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1250G	7						.						84.0	83.0	83.0					7																	37927881		2203	4300	6503	37894406	SO:0001587	stop_gained	51314	exon15			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1250T>G	7.37:g.37927881T>G	ENSP00000199447:p.Leu417*		37894406	NM_016616	Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155907	0.78114	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	.	.	.	4.42	4.42	0.53409	.	1.754130	0.03375	N	0.199605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2807	13.6088	0.62063	0.0:0.0:0.0:1.0	.	.	.	.	X	417	.	ENSP00000199447:L417X	L	+	2	0	TXNDC3	37894406	1.000000	0.71417	0.996000	0.52242	0.411000	0.31082	5.972000	0.70448	2.227000	0.72691	0.460000	0.39030	TTA		0.348	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
POU6F2	11281	broad.mit.edu	37	7	39125584	39125584	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:39125584C>T	ENST00000403058.1	+	3	297	c.143C>T	c.(142-144)gCg>gTg	p.A48V	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.A48V|POU6F2_ENST00000464276.2_Missense_Mutation_p.A40V|POU6F2_ENST00000559001.1_Missense_Mutation_p.A40V	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	48					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A48V(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCCTGCTTGCGCCTGTGGAA	0.512																																					p.A48V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C143T	7						.						124.0	102.0	109.0					7																	39125584		2203	4300	6503	39092109	SO:0001583	missense	11281	exon3			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.143C>T	7.37:g.39125584C>T	ENSP00000384004:p.Ala48Val		39092109	NM_007252	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490069	0.26686	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.85773	-1.97;-2.03	5.19	4.31	0.51392	.	3.850750	0.00960	N	0.003090	T	0.79759	0.4501	N	0.22421	0.69	0.24318	N	0.99506	B;B	0.24651	0.108;0.014	B;B	0.20384	0.029;0.003	T	0.64089	-0.6489	10	0.37606	T	0.19	.	10.9538	0.47345	0.0:0.8489:0.0:0.1511	.	48;48	P78424-2;P78424	.;PO6F2_HUMAN	V	48;48;49	ENSP00000384004:A48V;ENSP00000430514:A48V	ENSP00000384004:A48V	A	+	2	0	POU6F2	39092109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.582000	0.36568	1.198000	0.43158	0.637000	0.83480	GCG		0.512	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	
CDK13	8621	broad.mit.edu	37	7	40134565	40134565	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:40134565G>A	ENST00000181839.4	+	14	5130	c.4525G>A	c.(4525-4527)Ggg>Agg	p.G1509R	CDK13_ENST00000340829.5_Missense_Mutation_p.G1449R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1509					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.G1509R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CAGAGGCAGAGGGTTACCATA	0.453																																					p.G1509R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4525A	7						.						100.0	102.0	101.0					7																	40134565		2203	4300	6503	40101090	SO:0001583	missense	8621	exon14			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4525G>A	7.37:g.40134565G>A	ENSP00000181839:p.Gly1509Arg		40101090	NM_003718	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279439	0.59758	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	D;D	0.91407	-2.55;-2.84	5.7	5.7	0.88788	.	.	.	.	.	D	0.94696	0.8289	L	0.61218	1.895	0.53688	D	0.999978	D;D	0.89917	1.0;0.982	D;P	0.91635	0.999;0.784	D	0.93546	0.6882	8	.	.	.	-3.3868	19.8389	0.96675	0.0:0.0:1.0:0.0	.	1449;1509	Q14004-2;Q14004	.;CDK13_HUMAN	R	1509;1449	ENSP00000181839:G1509R;ENSP00000340557:G1449R	.	G	+	1	0	CDK13	40101090	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.817000	0.86213	2.703000	0.92315	0.655000	0.94253	GGG		0.453	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
GLI3	2737	broad.mit.edu	37	7	42007250	42007250	+	Missense_Mutation	SNP	C	C	T	rs546878700		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:42007250C>T	ENST00000395925.3	-	14	2459	c.2375G>A	c.(2374-2376)cGa>cAa	p.R792Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	792					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|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)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R792Q(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGGTTCAGTCGCGGAAACAT	0.488									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				C|||	1	0.000199681	0.0008	0.0	5008	,	,		18909	0.0		0.0	False		,,,				2504	0.0				p.R792Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2375A	7						.						262.0	264.0	263.0					7																	42007250		2203	4300	6503	41973775	SO:0001583	missense	2737	exon14	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2375G>A	7.37:g.42007250C>T	ENSP00000379258:p.Arg792Gln		41973775	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579076	0.86645	.	.	ENSG00000106571	ENST00000395925	T	0.13778	2.56	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.64506	0.926	T	0.02721	-1.1119	10	0.23891	T	0.37	.	19.5736	0.95432	0.0:1.0:0.0:0.0	.	792	P10071	GLI3_HUMAN	Q	792	ENSP00000379258:R792Q	ENSP00000379258:R792Q	R	-	2	0	GLI3	41973775	1.000000	0.71417	0.958000	0.39756	0.929000	0.56500	5.776000	0.68924	2.636000	0.89361	0.655000	0.94253	CGA		0.488	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
GLI3	2737	broad.mit.edu	37	7	42063091	42063091	+	Silent	SNP	G	G	A	rs572462647		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:42063091G>A	ENST00000395925.3	-	10	1557	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	491					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|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)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F491fs*11(1)|p.F491F(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTTGGGTGTCGAACTCCCTCG	0.532									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	1	0.000199681	0.0008	0.0	5008	,	,		18310	0.0		0.0	False		,,,				2504	0.0				p.F491F												.	.	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	large_intestine(1)|breast(1)	c.C1473T	7						.						154.0	118.0	130.0					7																	42063091		2203	4300	6503	42029616	SO:0001819	synonymous_variant	2737	exon10	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1473C>T	7.37:g.42063091G>A			42029616	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.532	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
GLI3	2737	broad.mit.edu	37	7	42079723	42079723	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:42079723G>T	ENST00000395925.3	-	7	1026	c.942C>A	c.(940-942)ccC>ccA	p.P314P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	314					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|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)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P314P(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCAAGGAGTTGGGAGACGTCC	0.498									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.P314P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C942A	7						.						202.0	173.0	183.0					7																	42079723		2203	4300	6503	42046248	SO:0001819	synonymous_variant	2737	exon7	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.942C>A	7.37:g.42079723G>T			42046248	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.498	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
AEBP1	165	broad.mit.edu	37	7	44149806	44149806	+	Splice_Site	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:44149806A>G	ENST00000223357.3	+	11	1566	c.1261A>G	c.(1261-1263)Acc>Gcc	p.T421A	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	421	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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)|zinc ion binding (GO:0008270)	p.T421A(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCTGGACAGACCGGTGCCAC	0.632																																					p.T421A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1261G	7						.						80.0	67.0	72.0					7																	44149806		2203	4300	6503	44116331	SO:0001630	splice_region_variant	165	exon11			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1261-1A>G	7.37:g.44149806A>G			44116331	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	A	0.371	-0.933810	0.02340	.	.	ENSG00000106624	ENST00000223357	D	0.97089	-4.24	5.24	4.36	0.52297	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.198587	0.44285	N	0.000468	D	0.85509	0.5713	N	0.00329	-1.635	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.81364	-0.0966	9	.	.	.	-15.527	13.4212	0.60998	0.0772:0.0:0.9228:0.0	.	421	Q8IUX7	AEBP1_HUMAN	A	421	ENSP00000223357:T421A	.	T	+	1	0	AEBP1	44116331	1.000000	0.71417	0.987000	0.45799	0.140000	0.21249	4.560000	0.60802	1.226000	0.43582	-0.232000	0.12228	ACC		0.632	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	Missense_Mutation
GCK	2645	broad.mit.edu	37	7	44189604	44189604	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:44189604G>A	ENST00000403799.3	-	5	1012	c.543C>T	c.(541-543)gtC>gtT	p.V181V	GCK_ENST00000437084.1_Silent_p.V164V|GCK_ENST00000345378.2_Silent_p.V182V|GCK_ENST00000395796.3_Silent_p.V180V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	181	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.V182V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GAAGCCCCACGACATTGTTCC	0.627																																					p.V181V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543T	7						.						111.0	95.0	100.0					7																	44189604		2203	4300	6503	44156129	SO:0001819	synonymous_variant	2645	exon5			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.543C>T	7.37:g.44189604G>A			44156129	NM_000162	A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	CCDS5479.1																																																																																				0.627	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		
NUDCD3	23386	broad.mit.edu	37	7	44425654	44425654	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:44425654C>T	ENST00000355451.7	-	6	1321	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	348								p.D348N(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						ATGGCAGGGTCGAATCGCTGG	0.532																																					p.D348N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1042A	7						.						84.0	78.0	80.0					7																	44425654		2203	4300	6503	44392179	SO:0001583	missense	23386	exon6			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.1042G>A	7.37:g.44425654C>T	ENSP00000347626:p.Asp348Asn		44392179	NM_015332	Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	C	35	5.494952	0.96339	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.64618	-0.11	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	T	0.80763	-0.1237	10	0.51188	T	0.08	-8.8623	19.8237	0.96607	0.0:1.0:0.0:0.0	.	348	Q8IVD9	NUDC3_HUMAN	N	348;104	ENSP00000347626:D348N	ENSP00000345922:D104N	D	-	1	0	NUDCD3	44392179	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.794000	0.69067	2.786000	0.95864	0.655000	0.94253	GAC		0.532	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332	
PKD1L1	168507	broad.mit.edu	37	7	47835623	47835623	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:47835623T>C	ENST00000289672.2	-	55	8369	c.8319A>G	c.(8317-8319)acA>acG	p.T2773T	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2773					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.T2773T(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						CCAACTTTGGTGTTTCCAGTC	0.398																																					p.T2773T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A8319G	7						.						191.0	177.0	182.0					7																	47835623		2203	4300	6503	47802148	SO:0001819	synonymous_variant	168507	exon55			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.8319A>G	7.37:g.47835623T>C			47802148	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																				0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
ABCA13	154664	broad.mit.edu	37	7	48313215	48313215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:48313215G>T	ENST00000435803.1	+	17	3976	c.3952G>T	c.(3952-3954)Gaa>Taa	p.E1318*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1318					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1318*(1)|p.E1263*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAATTATGGAGAAAAATTTGA	0.299																																					p.E1263D												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3789T	7						.						18.0	18.0	18.0					7																	48313215		1789	4036	5825	48283761	SO:0001587	stop_gained	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3952G>T	7.37:g.48313215G>T	ENSP00000411096:p.Glu1318*		48283761	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048447	0.93740	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.37	2.57	0.30868	.	1.273530	0.05885	N	0.627230	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4572	0.16598	0.2298:0.0:0.63:0.1402	.	.	.	.	X	1318	.	.	E	+	1	0	ABCA13	48283761	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.477000	0.22196	0.335000	0.23614	-0.321000	0.08615	GAA		0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48314156	48314156	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:48314156T>C	ENST00000435803.1	+	17	4917	c.4893T>C	c.(4891-4893)ggT>ggC	p.G1631G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1631					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G1631G(1)|p.G1576G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGGTCTTGGTATTCAACTGA	0.368																																					p.V1577A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T4730C	7						.						181.0	173.0	175.0					7																	48314156		1869	4096	5965	48284702	SO:0001819	synonymous_variant	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4893T>C	7.37:g.48314156T>C			48284702	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48318740	48318740	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:48318740A>G	ENST00000435803.1	+	18	7973	c.7949A>G	c.(7948-7950)gAa>gGa	p.E2650G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2650					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E2650G(1)|p.E2595G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGAACTTGGAAGATATGAGG	0.353																																					p.K2596E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A7786G	7						.						29.0	28.0	28.0					7																	48318740		1827	4080	5907	48289286	SO:0001583	missense	154664	exon16			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7949A>G	7.37:g.48318740A>G	ENSP00000411096:p.Glu2650Gly		48289286	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	0.038	-1.296742	0.01364	.	.	ENSG00000179869	ENST00000435803	T	0.52057	0.68	4.93	1.67	0.24075	.	0.906894	0.09173	N	0.838565	T	0.20210	0.0486	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	10	0.07990	T	0.79	.	1.9022	0.03270	0.1171:0.1641:0.461:0.2579	.	2650	Q86UQ4	ABCAD_HUMAN	G	2650	ENSP00000411096:E2650G	ENSP00000411096:E2650G	E	+	2	0	ABCA13	48289286	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.151000	0.16283	0.462000	0.27095	-0.242000	0.12053	GAA		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48319387	48319387	+	Nonsense_Mutation	SNP	G	G	T	rs551407561		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:48319387G>T	ENST00000435803.1	+	18	8620	c.8596G>T	c.(8596-8598)Gaa>Taa	p.E2866*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2866					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E2811*(1)|p.E2866*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCAGAAAAAGAAGAGAGAAC	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		18610	0.0		0.001	False		,,,				2504	0.0				p.K2811N												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G8433T	7						.						97.0	101.0	100.0					7																	48319387		1811	4074	5885	48289933	SO:0001587	stop_gained	154664	exon16			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8596G>T	7.37:g.48319387G>T	ENSP00000411096:p.Glu2866*		48289933	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	48	14.590970	0.99802	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.07	0.887	0.19200	.	0.758650	0.11640	N	0.543939	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.7833	0.13213	0.2065:0.3799:0.4136:0.0	.	.	.	.	X	2866	.	ENSP00000411096:E2866X	E	+	1	0	ABCA13	48289933	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.188000	0.09642	0.533000	0.28675	0.650000	0.86243	GAA		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48626834	48626834	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:48626834A>C	ENST00000435803.1	+	57	14614	c.14590A>C	c.(14590-14592)Aaa>Caa	p.K4864Q	ABCA13_ENST00000544596.1_Missense_Mutation_p.K594Q	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4864	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.K4864Q(1)|p.K4809Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACCAAGCGGAAACTCTCTAC	0.507																																					p.G4809G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A14427C	7						.						39.0	42.0	41.0					7																	48626834		1961	4182	6143	48597380	SO:0001583	missense	154664	exon55			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14590A>C	7.37:g.48626834A>C	ENSP00000411096:p.Lys4864Gln		48597380	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770114	0.90108	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.41758	0.99;0.99;0.99	5.71	5.71	0.89125	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.53938	D	0.000048	T	0.68805	0.3041	M	0.87547	2.89	0.46874	D	0.999236	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75016	-0.3466	10	0.87932	D	0	.	13.9342	0.64015	1.0:0.0:0.0:0.0	.	594;2566;4864	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	Q	4864;637;594	ENSP00000411096:K4864Q;ENSP00000391042:K637Q;ENSP00000442634:K594Q	ENSP00000391042:K637Q	K	+	1	0	ABCA13	48597380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.495000	0.81514	2.167000	0.68274	0.528000	0.53228	AAA		0.507	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
FIGNL1	63979	broad.mit.edu	37	7	50513419	50513419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:50513419C>A	ENST00000419119.1	-	2	3120	c.1567G>T	c.(1567-1569)Gaa>Taa	p.E523*	FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.E523*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.E523*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.E523*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	523					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.E523*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ACTAAAAATTCTGTTTTTATC	0.413																																					p.E523X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1567T	7						.						87.0	89.0	88.0					7																	50513419		2203	4299	6502	50480913	SO:0001587	stop_gained	63979	exon4			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1567G>T	7.37:g.50513419C>A	ENSP00000410811:p.Glu523*		50480913	NM_001042762	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Nonsense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	46	12.178734	0.99644	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.9379	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	523	.	ENSP00000349356:E523X	E	-	1	0	FIGNL1	50480913	1.000000	0.71417	0.961000	0.40146	0.909000	0.53808	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.413	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762	
ZNF479	90827	broad.mit.edu	37	7	57187920	57187920	+	Missense_Mutation	SNP	C	C	A	rs572783904		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:57187920C>A	ENST00000331162.4	-	5	1472	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	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.R401I(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)			AGTATGAATTCTCTTGTGGAT	0.438													.|||	1	0.000199681	0.0	0.0	5008	,	,		21253	0.0		0.0	False		,,,				2504	0.001				p.R401I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1202T	7						.						14.0	12.0	13.0					7																	57187920		1821	3902	5723	57191862	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.1202G>T	7.37:g.57187920C>A	ENSP00000333776:p.Arg401Ile		57191862	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	2.167	-0.390909	0.04932	.	.	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	0.03220	0.0094	M	0.64567	1.98	0.37387	D	0.912309	B	0.16396	0.017	B	0.14023	0.01	T	0.44034	-0.9354	9	0.41790	T	0.15	.	2.1182	0.03719	0.2948:0.4775:0.0:0.2278	.	401	Q96JC4	ZN479_HUMAN	I	401	ENSP00000333776:R401I	ENSP00000333776:R401I	R	-	2	0	ZNF479	57191862	0.001000	0.12720	0.012000	0.15200	0.012000	0.07955	1.404000	0.34623	-1.303000	0.02332	-1.323000	0.01288	AGA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF479	90827	broad.mit.edu	37	7	57194395	57194395	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:57194395C>T	ENST00000331162.4	-	3	340	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	24	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.E24K(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)			AGAGAGAATTCTATAGCTATG	0.438																																					p.E24K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70A	7						.						41.0	42.0	42.0					7																	57194395		2140	4263	6403	57198337	SO:0001583	missense	90827	exon3			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.70G>A	7.37:g.57194395C>T	ENSP00000333776:p.Glu24Lys		57198337	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	12.56	1.974422	0.34848	.	.	ENSG00000185177	ENST00000331162	T	0.01767	4.65	1.25	-0.113	0.13568	Krueppel-associated box (4);	.	.	.	.	T	0.06096	0.0158	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.32161	-0.9917	9	0.66056	D	0.02	.	3.131	0.06423	0.2959:0.409:0.2951:0.0	.	24	Q96JC4	ZN479_HUMAN	K	24	ENSP00000333776:E24K	ENSP00000333776:E24K	E	-	1	0	ZNF479	57198337	0.245000	0.23899	0.016000	0.15963	0.026000	0.11368	0.052000	0.14163	-0.301000	0.08882	0.393000	0.25936	GAA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF680	340252	broad.mit.edu	37	7	63982828	63982828	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:63982828C>A	ENST00000309683.6	-	4	455	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	102					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)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TGAAAAGAATCTTTTATGCTA	0.328																																					p.D102Y												.	.	0			c.G304T	7						.						37.0	38.0	38.0					7																	63982828		2203	4286	6489	63620263	SO:0001583	missense	340252	exon4			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.304G>T	7.37:g.63982828C>A	ENSP00000309330:p.Asp102Tyr		63620263	NM_178558	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	c	3.876	-0.026915	0.07589	.	.	ENSG00000173041	ENST00000309683	T	0.05382	3.45	0.468	0.468	0.16732	.	.	.	.	.	T	0.26048	0.0635	M	0.90595	3.13	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.02885	-1.1098	8	0.52906	T	0.07	.	.	.	.	.	102	Q8NEM1	ZN680_HUMAN	Y	102	ENSP00000309330:D102Y	ENSP00000309330:D102Y	D	-	1	0	ZNF680	63620263	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-0.093000	0.11111	0.488000	0.27723	0.491000	0.48974	GAT		0.328	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558	
RABGEF1	27342	broad.mit.edu	37	7	66273942	66273942	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:66273942C>T	ENST00000284957.5	+	9	1224	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	RABGEF1_ENST00000439720.2_Missense_Mutation_p.R396C|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Missense_Mutation_p.R423C|GTF2IRD1P1_ENST00000457166.1_RNA|KCTD7_ENST00000451741.2_Missense_Mutation_p.R383C|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R397C|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R383C|KCTD7_ENST00000510829.2_Missense_Mutation_p.R383C			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	600					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.R383C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GGATTTTGATCGCTACATGTC	0.458																																					p.R383C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1147T	7						.						97.0	92.0	94.0					7																	66273942		2203	4300	6503	65911377	SO:0001583	missense	27342	exon9			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1147C>T	7.37:g.66273942C>T	ENSP00000284957:p.Arg383Cys		65911377	NM_014504	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216307	0.58452	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.87	4.98	0.66077	Vacuolar sorting protein 9, subgroup (1);	0.047593	0.85682	D	0.000000	T	0.25717	0.0626	L	0.49350	1.555	0.80722	D	1	P;B;P	0.44139	0.8;0.448;0.827	B;B;B	0.34722	0.057;0.038;0.188	T	0.08806	-1.0704	10	0.87932	D	0	-8.0344	11.2547	0.49048	0.1434:0.7187:0.1379:0.0	.	397;217;600	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	C	467;423;383;383;299;383;383;396;397	ENSP00000370208:R423C;ENSP00000421124:R383C;ENSP00000398177:R383C;ENSP00000284957:R383C;ENSP00000415815:R383C;ENSP00000403429:R396C;ENSP00000390480:R397C	ENSP00000370207:R467C	R	+	1	0	RABGEF1;KCTD7	65911377	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.619000	0.54196	1.587000	0.49959	0.655000	0.94253	CGC		0.458	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
TYW1	55253	broad.mit.edu	37	7	66463885	66463885	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:66463885G>A	ENST00000359626.5	+	3	381	c.217G>A	c.(217-219)Gac>Aac	p.D73N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	73					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.D73N(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)				TCAAGAGAAAGACATCTTTGT	0.368																																					p.D73N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	7						.						124.0	119.0	121.0					7																	66463885		2203	4300	6503	66101320	SO:0001583	missense	55253	exon3			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.217G>A	7.37:g.66463885G>A	ENSP00000352645:p.Asp73Asn		66101320	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	9.340	1.062899	0.19987	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	T	0.17370	2.28	4.45	2.62	0.31277	.	1.184830	0.06589	U	0.751709	T	0.13670	0.0331	L	0.36672	1.1	0.09310	N	0.999996	B	0.18610	0.029	B	0.15870	0.014	T	0.36065	-0.9763	9	.	.	.	.	5.594	0.17317	0.1207:0.2701:0.6092:0.0	.	73	Q9NV66	TYW1_HUMAN	N	73	ENSP00000352645:D73N	.	D	+	1	0	TYW1	66101320	0.997000	0.39634	0.104000	0.21259	0.377000	0.30045	1.420000	0.34804	0.497000	0.27926	0.563000	0.77884	GAC		0.368	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264	
WBSCR17	64409	broad.mit.edu	37	7	71130516	71130516	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:71130516G>A	ENST00000333538.5	+	7	1835	c.1201G>A	c.(1201-1203)Gtt>Att	p.V401I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	401					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V401I(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCTCTTCGCGTTGCTGAGGT	0.532																																					p.V401I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1201A	7						.						123.0	104.0	111.0					7																	71130516		2203	4300	6503	70768452	SO:0001583	missense	64409	exon7			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1201G>A	7.37:g.71130516G>A	ENSP00000329654:p.Val401Ile		70768452	NM_022479	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953253	0.92660	.	.	ENSG00000185274	ENST00000333538	T	0.39056	1.1	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.74258	2.255	0.80722	D	1	D	0.65815	0.995	P	0.55965	0.788	T	0.63782	-0.6559	10	0.66056	D	0.02	.	19.147	0.93472	0.0:0.0:1.0:0.0	.	401	Q6IS24	GLTL3_HUMAN	I	401	ENSP00000329654:V401I	ENSP00000329654:V401I	V	+	1	0	WBSCR17	70768452	1.000000	0.71417	0.806000	0.32338	0.728000	0.41692	9.869000	0.99810	2.770000	0.95276	0.563000	0.77884	GTT		0.532	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
BAZ1B	9031	broad.mit.edu	37	7	72891393	72891393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:72891393C>A	ENST00000339594.4	-	7	2736	c.2398G>T	c.(2398-2400)Gaa>Taa	p.E800*	BAZ1B_ENST00000404251.1_Nonsense_Mutation_p.E800*	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	800					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.E800*(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)				gcttccatttctttccgtttc	0.403																																					p.E800X	Esophageal Squamous(112;1167 1561 21085 43672 48228)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2398T	7						.						87.0	81.0	83.0					7																	72891393		2203	4300	6503	72529329	SO:0001587	stop_gained	9031	exon7			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.2398G>T	7.37:g.72891393C>A	ENSP00000342434:p.Glu800*		72529329	NM_032408	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Nonsense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	42	9.594021	0.99214	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-25.8917	18.8054	0.92035	0.0:1.0:0.0:0.0	.	.	.	.	X	800	.	ENSP00000342434:E800X	E	-	1	0	BAZ1B	72529329	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.430000	0.80321	2.702000	0.92279	0.491000	0.48974	GAA		0.403	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
TBL2	26608	broad.mit.edu	37	7	72987664	72987664	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:72987664C>T	ENST00000305632.5	-	4	825	c.584G>A	c.(583-585)gGc>gAc	p.G195D	TBL2_ENST00000452475.1_Missense_Mutation_p.G195D|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.G159D	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	195							poly(A) RNA binding (GO:0044822)	p.G195D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTTAGCAATGCCAATGTCGAT	0.517																																					p.G195D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G584A	7						.						167.0	147.0	154.0					7																	72987664		2203	4300	6503	72625600	SO:0001583	missense	26608	exon4			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.584G>A	7.37:g.72987664C>T	ENSP00000307260:p.Gly195Asp		72625600	NM_012453	Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986866	0.53934	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.58060	0.36;0.36;0.36	5.48	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.096199	0.64402	D	0.000001	T	0.62478	0.2431	L	0.47016	1.485	0.80722	D	1	D;D	0.61697	0.98;0.99	D;D	0.67103	0.949;0.949	T	0.61048	-0.7141	10	0.36615	T	0.2	-24.7332	13.4673	0.61263	0.0:0.6999:0.3001:0.0	.	159;195	E9PF19;Q9Y4P3	.;TBL2_HUMAN	D	195;195;159;195	ENSP00000307260:G195D;ENSP00000413979:G159D;ENSP00000407371:G195D	ENSP00000307260:G195D	G	-	2	0	TBL2	72625600	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	3.268000	0.51585	1.301000	0.44836	0.561000	0.74099	GGC		0.517	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453	
TBL2	26608	broad.mit.edu	37	7	72988406	72988406	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:72988406T>G	ENST00000305632.5	-	3	549	c.308A>C	c.(307-309)aAa>aCa	p.K103T	TBL2_ENST00000452475.1_Missense_Mutation_p.K103T|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.K67T	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	103							poly(A) RNA binding (GO:0044822)	p.K103T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCCAGGTATTTGCCATTGCT	0.567																																					p.K103T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A308C	7						.						164.0	129.0	141.0					7																	72988406		2203	4300	6503	72626342	SO:0001583	missense	26608	exon3			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.308A>C	7.37:g.72988406T>G	ENSP00000307260:p.Lys103Thr		72626342	NM_012453	Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726241	0.89298	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.29917	1.55;1.55;1.55	5.3	5.3	0.74995	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	0.39009	0.1062	N	0.16833	0.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.37337	-0.9710	10	0.59425	D	0.04	-27.2246	13.1832	0.59666	0.0:0.0:0.0:1.0	.	67;103	E9PF19;Q9Y4P3	.;TBL2_HUMAN	T	103;103;67;103	ENSP00000307260:K103T;ENSP00000413979:K67T;ENSP00000407371:K103T	ENSP00000307260:K103T	K	-	2	0	TBL2	72626342	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.913000	0.87471	2.015000	0.59207	0.459000	0.35465	AAA		0.567	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453	
ELN	2006	broad.mit.edu	37	7	73457479	73457479	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:73457479G>T	ENST00000252034.7	+	8	807	c.408G>T	c.(406-408)gtG>gtT	p.V136V	ELN_ENST00000358929.4_Silent_p.V136V|ELN_ENST00000458204.1_Silent_p.V126V|ELN_ENST00000357036.5_Silent_p.V141V|ELN_ENST00000380575.4_Silent_p.V126V|ELN_ENST00000380562.4_Silent_p.V136V|ELN_ENST00000380576.5_Silent_p.V136V|ELN_ENST00000429192.1_Silent_p.V141V|ELN_ENST00000414324.1_Silent_p.V131V|ELN_ENST00000380553.4_Intron|ELN_ENST00000320492.7_Silent_p.V124V|ELN_ENST00000320399.6_Silent_p.V136V|ELN_ENST00000380584.4_Silent_p.V136V|ELN_ENST00000445912.1_Silent_p.V136V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	136					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.V136V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GAGCCGGAGTGAAGCCTGGGA	0.657			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																														p.V136V			Dom	yes		7	7q11.23	2006	elastin	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G408T	7						.						76.0	60.0	66.0					7																	73457479		2203	4300	6503	73095415	SO:0001819	synonymous_variant	2006	exon8				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.408G>T	7.37:g.73457479G>T			73095415	NM_001081755	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																				0.657	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	
HIP1	3092	broad.mit.edu	37	7	75185447	75185447	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:75185447G>A	ENST00000336926.6	-	18	1736	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	HIP1_ENST00000434438.2_Silent_p.F570F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	570					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.F570F(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						CTAGCTCGGCGAACTCGGCTG	0.552			T	PDGFRB	CMML																																p.F570F			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1710T	7						.						147.0	142.0	144.0					7																	75185447		2203	4300	6503	75023383	SO:0001819	synonymous_variant	3092	exon18			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.1710C>T	7.37:g.75185447G>A			75023383	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	CCDS34669.1																																																																																				0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
HIP1	3092	broad.mit.edu	37	7	75192287	75192287	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:75192287C>T	ENST00000336926.6	-	11	998	c.972G>A	c.(970-972)gaG>gaA	p.E324E	HIP1_ENST00000434438.2_Silent_p.E324E	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	324					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.E324E(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						CTAGGACTGGCTCGCTGTCGG	0.567			T	PDGFRB	CMML																																p.E324E			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G972A	7						.						63.0	59.0	61.0					7																	75192287		2203	4300	6503	75030223	SO:0001819	synonymous_variant	3092	exon11			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.972G>A	7.37:g.75192287C>T			75030223	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	CCDS34669.1																																																																																				0.567	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
MDH2	4191	broad.mit.edu	37	7	75693708	75693708	+	Missense_Mutation	SNP	C	C	T	rs139870141	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:75693708C>T	ENST00000315758.5	+	7	779	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	MDH2_ENST00000432020.2_Missense_Mutation_p.R187W|MDH2_ENST00000443006.1_Missense_Mutation_p.R122W	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	229					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)	p.R229W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						ACTCACTGGGCGGATCCAGGA	0.662																																					p.R229W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C685T	7						.						36.0	30.0	32.0					7																	75693708		2201	4300	6501	75531644	SO:0001583	missense	4191	exon7				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.685C>T	7.37:g.75693708C>T	ENSP00000327070:p.Arg229Trp		75531644	NM_005918	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074547	0.76415	.	.	ENSG00000146701	ENST00000315758;ENST00000443006;ENST00000432020	T;T;T	0.70749	-0.51;-0.51;-0.51	5.7	3.52	0.40303	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88500	0.6453	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91513	0.5228	10	0.87932	D	0	-39.7265	12.919	0.58222	0.4682:0.5318:0.0:0.0	.	187;229	E9PDB2;P40926	.;MDHM_HUMAN	W	229;122;187	ENSP00000327070:R229W;ENSP00000416929:R122W;ENSP00000408649:R187W	ENSP00000327070:R229W	R	+	1	2	MDH2	75531644	0.869000	0.29996	0.932000	0.37286	0.976000	0.68499	1.607000	0.36836	1.187000	0.43000	0.643000	0.83706	CGG		0.662	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1		
PTPN12	5782	broad.mit.edu	37	7	77200425	77200425	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:77200425A>G	ENST00000248594.6	+	2	402	c.130A>G	c.(130-132)Aca>Gca	p.T44A	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	44	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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.T44A(1)		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						CAAATATAGAACAGAAAAGAT	0.299																																					p.T44A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A130G	7						.						50.0	48.0	49.0					7																	77200425		2203	4295	6498	77038361	SO:0001583	missense	5782	exon2				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.130A>G	7.37:g.77200425A>G	ENSP00000248594:p.Thr44Ala		77038361	NM_002835	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	2.752	-0.259753	0.05791	.	.	ENSG00000127947	ENST00000248594	T	0.29655	1.56	5.27	5.27	0.74061	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.10645	0.015	0.80722	D	1	P	0.43750	0.816	P	0.46110	0.504	T	0.04360	-1.0957	10	0.06099	T	0.92	.	15.4878	0.75582	1.0:0.0:0.0:0.0	.	44	Q05209	PTN12_HUMAN	A	44	ENSP00000248594:T44A	ENSP00000248594:T44A	T	+	1	0	PTPN12	77038361	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.682000	0.61671	2.128000	0.65567	0.377000	0.23210	ACA		0.299	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
SEMA3C	10512	broad.mit.edu	37	7	80458037	80458037	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:80458037T>G	ENST00000265361.3	-	3	689	c.128A>C	c.(127-129)gAa>gCa	p.E43A	SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Missense_Mutation_p.E43A|SEMA3C_ENST00000544525.1_Missense_Mutation_p.E61A	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	43	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.E43A(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTGAAGTATTCAGAGGTCTT	0.358																																					p.E43A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A128C	7						.						107.0	106.0	106.0					7																	80458037		2203	4300	6503	80295973	SO:0001583	missense	10512	exon3			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.128A>C	7.37:g.80458037T>G	ENSP00000265361:p.Glu43Ala		80295973	NM_006379	B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.964077	0.34659	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.21543	2.0;2.0;2.0	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.043393	0.85682	D	0.000000	T	0.13841	0.0335	N	0.13235	0.315	0.80722	D	1	B;B	0.25390	0.125;0.032	B;B	0.28916	0.096;0.044	T	0.09530	-1.0670	10	0.08599	T	0.76	.	16.2141	0.82191	0.0:0.0:0.0:1.0	.	61;43	F5H1Z7;Q99985	.;SEM3C_HUMAN	A	43;43;61	ENSP00000265361:E43A;ENSP00000411193:E43A;ENSP00000445649:E61A	ENSP00000265361:E43A	E	-	2	0	SEMA3C	80295973	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.542000	0.82095	2.224000	0.72417	0.528000	0.53228	GAA		0.358	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
PCLO	27445	broad.mit.edu	37	7	82584625	82584625	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:82584625T>G	ENST00000333891.9	-	5	5981	c.5644A>C	c.(5644-5646)Aaa>Caa	p.K1882Q	PCLO_ENST00000423517.2_Missense_Mutation_p.K1882Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K1882Q(1)|p.K1813Q(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						TTATAAACTTTTTGTACTTCT	0.378																																					p.K1882Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5644C	7						.						75.0	70.0	71.0					7																	82584625		1810	4068	5878	82422561	SO:0001583	missense	27445	exon5			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.5644A>C	7.37:g.82584625T>G	ENSP00000334319:p.Lys1882Gln		82422561	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	9.659	1.143751	0.21205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.24	5.57	5.57	0.84162	.	.	.	.	.	T	0.28167	0.0695	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.961;0.984	T	0.09164	-1.0687	9	0.87932	D	0	.	15.7247	0.77747	0.0:0.0:0.0:1.0	.	1882;1882	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1813;1882;1882	ENSP00000334319:K1882Q;ENSP00000388393:K1882Q	ENSP00000334319:K1882Q	K	-	1	0	PCLO	82422561	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.827000	0.62723	2.116000	0.64780	0.533000	0.62120	AAA		0.378	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	82586044	82586044	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:82586044A>C	ENST00000333891.9	-	5	4562	c.4225T>G	c.(4225-4227)Ttg>Gtg	p.L1409V	PCLO_ENST00000423517.2_Missense_Mutation_p.L1409V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L1409V(1)|p.L1340V(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						AACTTAGCCAAATCTGAGGGG	0.393																																					p.L1409V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4225G	7						.						98.0	92.0	94.0					7																	82586044		1826	4082	5908	82423980	SO:0001583	missense	27445	exon5			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.4225T>G	7.37:g.82586044A>C	ENSP00000334319:p.Leu1409Val		82423980	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.651966	0.29336	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.30714	1.52;1.53	5.62	-0.6	0.11642	.	.	.	.	.	T	0.49457	0.1558	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.52563	-0.8559	9	0.87932	D	0	.	9.756	0.40504	0.554:0.0:0.446:0.0	.	1409;1409	Q9Y6V0-5;Q9Y6V0-6	.;.	V	1340;1409;1409	ENSP00000334319:L1409V;ENSP00000388393:L1409V	ENSP00000334319:L1409V	L	-	1	2	PCLO	82423980	0.993000	0.37304	0.997000	0.53966	0.996000	0.88848	0.821000	0.27338	0.094000	0.17404	0.533000	0.62120	TTG		0.393	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	82785303	82785303	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:82785303C>T	ENST00000333891.9	-	2	991	c.654G>A	c.(652-654)ccG>ccA	p.P218P	PCLO_ENST00000423517.2_Silent_p.P218P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P218P(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						GCTTAGGAATCGGCTTGGGTG	0.448																																					p.P218P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G654A	7						.						81.0	87.0	85.0					7																	82785303		1911	4123	6034	82623239	SO:0001819	synonymous_variant	27445	exon2			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.654G>A	7.37:g.82785303C>T			82623239	NM_033026		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3A	10371	broad.mit.edu	37	7	83592584	83592584	+	Silent	SNP	C	C	T	rs367617715		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:83592584C>T	ENST00000265362.4	-	16	2111	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	SEMA3A_ENST00000436949.1_Silent_p.P599P	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	599	Ig-like C2-type.				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.P599P(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						TCTGCGACTTCGGACTGCATT	0.438																																					p.P599P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1797A	7						.	C		0,4406		0,0,2203	157.0	151.0	153.0		1797	-12.1	0.4	7		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA3A	NM_006080.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		599/772	83592584	1,13005	2203	4300	6503	83430520	SO:0001819	synonymous_variant	10371	exon16			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.1797G>A	7.37:g.83592584C>T			83430520	NM_006080		Silent	SNP	ENST00000265362.4	37	CCDS5599.1																																																																																				0.438	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
DBF4	10926	broad.mit.edu	37	7	87537180	87537180	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:87537180G>A	ENST00000265728.1	+	12	2231	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	576					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R576Q(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAAATACATCGAAAAGTGAAA	0.338																																					p.R576Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1727A	7						.						49.0	55.0	53.0					7																	87537180		2199	4258	6457	87375116	SO:0001583	missense	10926	exon12			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1727G>A	7.37:g.87537180G>A	ENSP00000265728:p.Arg576Gln		87375116	NM_006716	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733648	0.69189	.	.	ENSG00000006634	ENST00000265728	T	0.50813	0.73	5.13	2.29	0.28610	.	0.000000	0.56097	D	0.000030	T	0.55194	0.1905	M	0.63843	1.955	0.19300	N	0.999977	D;D	0.76494	0.999;0.996	P;P	0.56788	0.806;0.632	T	0.46442	-0.9191	10	0.87932	D	0	-0.0227	9.0605	0.36431	0.2265:0.0:0.7735:0.0	.	352;576	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	Q	576	ENSP00000265728:R576Q	ENSP00000265728:R576Q	R	+	2	0	DBF4	87375116	0.985000	0.35326	0.960000	0.40013	0.970000	0.65996	3.680000	0.54641	1.157000	0.42530	0.650000	0.86243	CGA		0.338	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	
STEAP2	261729	broad.mit.edu	37	7	89859245	89859245	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:89859245T>G	ENST00000287908.3	+	4	1473	c.1080T>G	c.(1078-1080)taT>taG	p.Y360*	STEAP2_ENST00000394622.2_Nonsense_Mutation_p.Y360*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.Y360*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.Y360*|STEAP2_ENST00000402625.2_Nonsense_Mutation_p.Y360*|STEAP2_ENST00000394632.1_Nonsense_Mutation_p.Y360*|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.Y360*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	360	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.Y360*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTGAAATGTATATCTCCTTTG	0.368																																					p.Y360X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1080G	7						.						162.0	165.0	164.0					7																	89859245		2203	4300	6503	89697181	SO:0001587	stop_gained	261729	exon4			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1080T>G	7.37:g.89859245T>G	ENSP00000287908:p.Tyr360*		89697181	NM_152999	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Nonsense_Mutation	SNP	ENST00000287908.3	37	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	T	37	6.280735	0.97440	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	.	.	.	5.93	-0.118	0.13547	.	0.056793	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2967	9.5999	0.39598	0.0:0.3569:0.0:0.6431	.	.	.	.	X	360	.	ENSP00000287908:Y360X	Y	+	3	2	STEAP2	89697181	0.961000	0.32948	0.998000	0.56505	0.999000	0.98932	0.097000	0.15168	-0.040000	0.13580	0.533000	0.62120	TAT		0.368	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999	
AKAP9	10142	broad.mit.edu	37	7	91726201	91726201	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:91726201C>T	ENST00000359028.2	+	41	10165	c.9940C>T	c.(9940-9942)Cgg>Tgg	p.R3314W	AKAP9_ENST00000356239.3_Missense_Mutation_p.R3310W|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3260W			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3314					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.R3310W(2)|p.R3314W(2)		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)			AGTTCGAATTCGGGAAATGAG	0.478			T	BRAF	papillary thyroid																																p.R3302W			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	4	Substitution - Missense(4)	large_intestine(2)|stomach(2)	c.C9904T	7						.						95.0	93.0	93.0					7																	91726201		2203	4300	6503	91564137	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.9940C>T	7.37:g.91726201C>T	ENSP00000351922:p.Arg3314Trp		91564137	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	14.15	2.448613	0.43531	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03524	3.99;3.99;3.99;3.9	5.56	4.67	0.58626	.	0.828031	0.10011	N	0.727166	T	0.05868	0.0153	L	0.44542	1.39	0.09310	N	1	D;D;D;D;D	0.62365	0.987;0.991;0.985;0.991;0.991	B;B;B;B;B	0.43123	0.394;0.409;0.232;0.409;0.409	T	0.39981	-0.9587	10	0.66056	D	0.02	.	11.7205	0.51678	0.1322:0.7241:0.1437:0.0	.	585;3314;3314;3310;3302	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	W	3310;3314;3260;3314;1156	ENSP00000348573:R3310W;ENSP00000351922:R3314W;ENSP00000350813:R3260W;ENSP00000378042:R1156W	ENSP00000348573:R3310W	R	+	1	2	AKAP9	91564137	0.904000	0.30761	0.957000	0.39632	0.993000	0.82548	1.845000	0.39279	1.433000	0.47394	0.655000	0.94253	CGG		0.478	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
ANKIB1	54467	broad.mit.edu	37	7	91980380	91980380	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:91980380A>G	ENST00000265742.3	+	8	1578	c.1202A>G	c.(1201-1203)gAc>gGc	p.D401G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	401							zinc ion binding (GO:0008270)	p.D401G(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)			AAGGAGATGGACAAACGATAC	0.323																																					p.D401G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1202G	7						.						86.0	81.0	83.0					7																	91980380		1854	4094	5948	91818316	SO:0001583	missense	54467	exon8			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.1202A>G	7.37:g.91980380A>G	ENSP00000265742:p.Asp401Gly		91818316	NM_019004	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601404	0.66445	.	.	ENSG00000001629	ENST00000265742	T	0.10382	2.88	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.36672	1.1	0.58432	D	0.999999	P	0.45078	0.85	B	0.41764	0.366	T	0.13415	-1.0510	10	0.27082	T	0.32	.	16.0698	0.80914	1.0:0.0:0.0:0.0	.	401	Q9P2G1	AKIB1_HUMAN	G	401	ENSP00000265742:D401G	ENSP00000265742:D401G	D	+	2	0	ANKIB1	91818316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.650000	0.91073	2.245000	0.73994	0.455000	0.32223	GAC		0.323	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		
CDK6	1021	broad.mit.edu	37	7	92404119	92404119	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:92404119C>T	ENST00000265734.4	-	3	671	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	CDK6_ENST00000424848.2_Missense_Mutation_p.R87Q	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R87Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGTCTGTTCGTGACACTGT	0.398			T	MLLT10	ALL																																p.R87Q			Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260A	7						.						128.0	116.0	120.0					7																	92404119		2203	4300	6503	92242055	SO:0001583	missense	1021	exon3				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.260G>A	7.37:g.92404119C>T	ENSP00000265734:p.Arg87Gln		92242055	NM_001259	A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667713	0.96745	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.42513	0.97;0.97	5.55	5.55	0.83447	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	0.49932	0.1586	L	0.39633	1.23	0.80722	D	1	D	0.67145	0.996	P	0.52793	0.709	T	0.45056	-0.9287	10	0.51188	T	0.08	-2.5446	19.8529	0.96746	0.0:1.0:0.0:0.0	.	87	Q00534	CDK6_HUMAN	Q	87	ENSP00000265734:R87Q;ENSP00000397087:R87Q	ENSP00000265734:R87Q	R	-	2	0	CDK6	92242055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.699000	0.84547	2.755000	0.94549	0.655000	0.94253	CGA		0.398	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2		
SAMD9	54809	broad.mit.edu	37	7	92732285	92732285	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:92732285T>C	ENST00000379958.2	-	3	3395	c.3126A>G	c.(3124-3126)gaA>gaG	p.E1042E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1042						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.E1042E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACCTTCATGTTCATCGCGGT	0.373																																					p.E1042E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3126G	7						.						113.0	101.0	105.0					7																	92732285		2203	4300	6503	92570221	SO:0001819	synonymous_variant	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3126A>G	7.37:g.92732285T>C			92570221	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																				0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9L	219285	broad.mit.edu	37	7	92761259	92761259	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:92761259T>C	ENST00000318238.4	-	5	5242	c.4026A>G	c.(4024-4026)ggA>ggG	p.G1342G	SAMD9L_ENST00000411955.1_Silent_p.G1342G|SAMD9L_ENST00000437805.1_Silent_p.G1342G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1342					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.G1342G(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)			ATTCCAAGAGTCCAGCAAACC	0.393																																					p.G1342G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4026G	7						.						99.0	100.0	100.0					7																	92761259		2203	4300	6503	92599195	SO:0001819	synonymous_variant	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.4026A>G	7.37:g.92761259T>C			92599195	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	CCDS34681.1																																																																																				0.393	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SAMD9L	219285	broad.mit.edu	37	7	92764271	92764271	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:92764271A>C	ENST00000318238.4	-	5	2230	c.1014T>G	c.(1012-1014)aaT>aaG	p.N338K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N338K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N338K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	338					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.N338K(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)			ACAGTGAAAGATTTTGGTTTT	0.323																																					p.N338K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1014G	7						.						96.0	103.0	101.0					7																	92764271		2202	4300	6502	92602207	SO:0001583	missense	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.1014T>G	7.37:g.92764271A>C	ENSP00000326247:p.Asn338Lys		92602207	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.013646	0.00422	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13307	2.6;2.6;2.6	4.74	-9.48	0.00591	.	0.572500	0.14789	N	0.298328	T	0.03011	0.0089	N	0.04508	-0.205	0.09310	N	1	B	0.19200	0.034	B	0.25291	0.059	T	0.30504	-0.9976	10	0.09843	T	0.71	-0.8597	1.8059	0.03081	0.2186:0.3243:0.2814:0.1757	.	338	Q8IVG5	SAM9L_HUMAN	K	338	ENSP00000326247:N338K;ENSP00000405760:N338K;ENSP00000408796:N338K	ENSP00000326247:N338K	N	-	3	2	SAMD9L	92602207	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-3.114000	0.00598	-1.793000	0.01258	0.377000	0.23210	AAT		0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
COL1A2	1278	broad.mit.edu	37	7	94052273	94052273	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:94052273T>G	ENST00000297268.6	+	40	2879	c.2408T>G	c.(2407-2409)aTt>aGt	p.I803S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	803			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.I803S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCATAGGGTATTTCTGGCCCT	0.502										HNSCC(75;0.22)																											p.I803S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2408G	7						.						167.0	166.0	167.0					7																	94052273		2203	4300	6503	93890209	SO:0001583	missense	1278	exon40			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2408T>G	7.37:g.94052273T>G	ENSP00000297268:p.Ile803Ser		93890209	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283629	0.40394	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93076	-3.16	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.88310	0.6402	N	0.02685	-0.53	0.80722	D	1	P	0.47302	0.893	P	0.53809	0.735	D	0.87879	0.2676	10	0.21014	T	0.42	.	15.1563	0.72746	0.0:0.0:0.0:1.0	.	803	P08123	CO1A2_HUMAN	S	803;804	ENSP00000297268:I803S	ENSP00000297268:I803S	I	+	2	0	COL1A2	93890209	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	3.391000	0.52530	2.052000	0.61016	0.460000	0.39030	ATT		0.502	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
CASD1	64921	broad.mit.edu	37	7	94167046	94167046	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:94167046A>C	ENST00000297273.4	+	9	1393	c.1106A>C	c.(1105-1107)cAa>cCa	p.Q369P		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	369						integral component of membrane (GO:0016021)		p.Q369P(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATACTTTTACAATCTTTCTGC	0.343																																					p.Q369P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1106C	7						.						108.0	121.0	117.0					7																	94167046		2203	4300	6503	94004982	SO:0001583	missense	64921	exon9			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1106A>C	7.37:g.94167046A>C	ENSP00000297273:p.Gln369Pro		94004982	NM_022900	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893416	0.33442	.	.	ENSG00000127995	ENST00000297273	T	0.43688	0.94	5.51	5.51	0.81932	.	0.580257	0.19553	N	0.111533	T	0.35068	0.0919	L	0.27053	0.805	0.33268	D	0.560573	B;B	0.30793	0.295;0.295	B;B	0.38156	0.266;0.266	T	0.50110	-0.8866	10	0.36615	T	0.2	.	11.064	0.47964	0.8615:0.0:0.0:0.1385	.	369;369	Q8WZ77;Q96PB1	.;CASD1_HUMAN	P	369	ENSP00000297273:Q369P	ENSP00000297273:Q369P	Q	+	2	0	CASD1	94004982	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.882000	0.63121	2.226000	0.72624	0.477000	0.44152	CAA		0.343	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	
PON1	5444	broad.mit.edu	37	7	94928407	94928407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:94928407C>T	ENST00000222381.3	-	9	1148	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	PON1_ENST00000542556.1_Missense_Mutation_p.R306Q	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	306					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.R306Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GTTCTGGATTCGAAGCACCTG	0.388																																					p.R306Q	GBM(119;715 1622 17358 22490 33240)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G917A	7						.						115.0	112.0	113.0					7																	94928407		2203	4300	6503	94766343	SO:0001583	missense	5444	exon9			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.917G>A	7.37:g.94928407C>T	ENSP00000222381:p.Arg306Gln		94766343	NM_000446	B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502553	0.26949	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.42131	0.98;0.98	4.93	-5.11	0.02901	Six-bladed beta-propeller, TolB-like (1);	0.549860	0.20390	N	0.093268	T	0.32010	0.0815	M	0.69823	2.125	0.30404	N	0.779721	P;B	0.47253	0.892;0.236	B;B	0.33392	0.163;0.028	T	0.37776	-0.9691	10	0.56958	D	0.05	0.0	13.0167	0.58762	0.0:0.5202:0.0:0.4798	.	306;306	F5H4W9;P27169	.;PON1_HUMAN	Q	306	ENSP00000222381:R306Q;ENSP00000444854:R306Q	ENSP00000222381:R306Q	R	-	2	0	PON1	94766343	0.004000	0.15560	0.488000	0.27440	0.248000	0.25809	-0.060000	0.11712	-1.280000	0.02402	-1.175000	0.01729	CGA		0.388	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446	
DYNC1I1	1780	broad.mit.edu	37	7	95439789	95439789	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:95439789G>T	ENST00000324972.6	+	3	387	c.194G>T	c.(193-195)aGc>aTc	p.S65I	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S65I|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S65I|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S65I|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S65I|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.S65I|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S65I	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	65	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.S65I(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)			TTGCTGCAAAGCATTGGTATC	0.473																																					p.S65I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194T	7						.						70.0	71.0	71.0					7																	95439789		2202	4300	6502	95277725	SO:0001583	missense	1780	exon3			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.194G>T	7.37:g.95439789G>T	ENSP00000320130:p.Ser65Ile		95277725	NM_004411	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037390	0.93630	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T	0.77620	-0.8;-0.81;-1.11;-0.88;-0.89;-0.8	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.85745	0.5768	M	0.64404	1.975	0.58432	D	0.999997	P;D;D;D;D	0.58970	0.937;0.981;0.981;0.984;0.981	P;P;D;P;D	0.63381	0.706;0.875;0.914;0.823;0.914	D	0.87097	0.2176	10	0.72032	D	0.01	-18.3978	18.3447	0.90317	0.0:0.0:1.0:0.0	.	65;65;65;65;65	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	I	65	ENSP00000392337:S65I;ENSP00000320130:S65I;ENSP00000438377:S65I;ENSP00000398118:S65I;ENSP00000352348:S65I;ENSP00000412444:S65I	ENSP00000320130:S65I	S	+	2	0	DYNC1I1	95277725	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.445000	0.97587	2.629000	0.89072	0.655000	0.94253	AGC		0.473	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
TAC1	6863	broad.mit.edu	37	7	97363054	97363054	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:97363054T>G	ENST00000319273.5	+	3	440	c.143T>G	c.(142-144)tTt>tGt	p.F48C	TAC1_ENST00000350485.4_Missense_Mutation_p.F48C|TAC1_ENST00000346867.4_Missense_Mutation_p.F48C	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	48					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|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)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.F48C(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					CCGGAGCCCTTTGAGCATCTT	0.597																																					p.F48C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T143G	7						.						90.0	83.0	85.0					7																	97363054		2203	4300	6503	97200990	SO:0001583	missense	6863	exon3			M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.143T>G	7.37:g.97363054T>G	ENSP00000321106:p.Phe48Cys		97200990	NM_013997	O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019406	0.75275	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	5.47	5.47	0.80525	.	0.150760	0.64402	D	0.000014	T	0.65585	0.2705	L	0.29908	0.895	0.38879	D	0.956872	D;D;D;D	0.89917	0.999;0.998;0.999;1.0	D;P;D;D	0.83275	0.992;0.891;0.994;0.996	T	0.71104	-0.4689	9	0.87932	D	0	-14.261	13.8029	0.63212	0.0:0.0:0.0:1.0	.	48;48;48;48	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	C	48	.	ENSP00000321106:F48C	F	+	2	0	TAC1	97200990	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.050000	0.64251	2.209000	0.71365	0.459000	0.35465	TTT		0.597	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182	
LMTK2	22853	broad.mit.edu	37	7	97821199	97821199	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:97821199C>T	ENST00000297293.5	+	11	1715	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	474					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.F474F(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)					GCCTGAGCTTCGAGTATGTCT	0.592																																					p.F474F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1422T	7						.						54.0	52.0	53.0					7																	97821199		2203	4300	6503	97659135	SO:0001819	synonymous_variant	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.1422C>T	7.37:g.97821199C>T			97659135	NM_014916	A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	CCDS5654.1																																																																																				0.592	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
BAIAP2L1	55971	broad.mit.edu	37	7	97939785	97939785	+	Silent	SNP	C	C	T	rs149722932		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:97939785C>T	ENST00000005260.8	-	9	1142	c.927G>A	c.(925-927)ccG>ccA	p.P309P	BAIAP2L1_ENST00000462558.1_5'UTR|RP4-607J23.2_ENST00000609873.1_RNA|RP4-607J23.2_ENST00000608882.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	309					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.P309P(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGTGAATTCGGGGCAGCCG	0.398																																					p.P309P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G927A	7						.	C		0,4406		0,0,2203	70.0	73.0	72.0		927	2.9	0.1	7	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAIAP2L1	NM_018842.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		309/512	97939785	1,13005	2203	4300	6503	97777721	SO:0001819	synonymous_variant	55971	exon9			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.927G>A	7.37:g.97939785C>T			97777721	NM_018842	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	CCDS34687.1																																																																																				0.398	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
TRRAP	8295	broad.mit.edu	37	7	98528257	98528257	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:98528257C>T	ENST00000359863.4	+	25	3604	c.3395C>T	c.(3394-3396)gCc>gTc	p.A1132V	TRRAP_ENST00000446306.3_Splice_Site_p.A1131V|TRRAP_ENST00000355540.3_Splice_Site_p.A1132V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1132					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A1132V(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCTCCAGGCCTGCCAGCTG	0.493																																					p.A1132V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3395T	7						.						182.0	183.0	183.0					7																	98528257		2203	4300	6503	98366193	SO:0001630	splice_region_variant	8295	exon25			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3394-1C>T	7.37:g.98528257C>T			98366193	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.190694|4.190694	0.78789|0.78789	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65549|.	3.54;-0.16|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68632|0.68632	0.3022|0.3022	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;P;D|.	0.61697|.	0.99;0.866;0.986|.	P;B;P|.	0.61722|.	0.893;0.295;0.835|.	T|T	0.63051|0.63051	-0.6723|-0.6723	10|5	0.16896|.	T|.	0.51|.	.|.	19.8174|19.8174	0.96576|0.96576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1132;846;1132|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|S	1132;1132;1130|847	ENSP00000352925:A1132V;ENSP00000347733:A1132V|.	ENSP00000347733:A1132V|.	A|P	+|+	2|1	0|0	TRRAP|TRRAP	98366193|98366193	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.389000|0.389000	0.30415|0.30415	7.772000|7.772000	0.85439|0.85439	2.757000|2.757000	0.94681|0.94681	0.591000|0.591000	0.81541|0.81541	GCC|CCT		0.493	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	Missense_Mutation
TRRAP	8295	broad.mit.edu	37	7	98602803	98602803	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:98602803C>T	ENST00000359863.4	+	68	10752	c.10543C>T	c.(10543-10545)Cgg>Tgg	p.R3515W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3504W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3486W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3515					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R3515W(2)|p.R3486W(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGCAGCCCGGCGGCTGTACAT	0.592																																					p.R3486W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C10456T	7						.						82.0	76.0	78.0					7																	98602803		2203	4300	6503	98440739	SO:0001583	missense	8295	exon67			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10543C>T	7.37:g.98602803C>T	ENSP00000352925:p.Arg3515Trp		98440739	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256506	0.59321	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.82433	-1.61;-1.61	5.53	4.39	0.52855	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93017	0.6437	10	0.87932	D	0	.	12.6071	0.56529	0.8551:0.1449:0.0:0.0	.	3486;3243;3515	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	3515;3486;3503	ENSP00000352925:R3515W;ENSP00000347733:R3486W	ENSP00000347733:R3486W	R	+	1	2	TRRAP	98440739	1.000000	0.71417	0.980000	0.43619	0.375000	0.29983	5.137000	0.64789	0.945000	0.37605	-0.500000	0.04577	CGG		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
TRRAP	8295	broad.mit.edu	37	7	98609882	98609882	+	Silent	SNP	C	C	T	rs200231900		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:98609882C>T	ENST00000359863.4	+	72	11693	c.11484C>T	c.(11482-11484)ttC>ttT	p.F3828F	TRRAP_ENST00000446306.3_Silent_p.F3817F|TRRAP_ENST00000355540.3_Silent_p.F3799F|AC004893.11_ENST00000360902.1_RNA	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3828	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.F3799F(1)|p.F3828F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCCCAGTTCGAAGGCGGGG	0.642																																					p.F3799F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C11397T	7						.						53.0	47.0	49.0					7																	98609882		2203	4300	6503	98447818	SO:0001819	synonymous_variant	8295	exon71			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11484C>T	7.37:g.98609882C>T			98447818	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.985	0.976247	0.18736	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.16	-6.07	0.02158	.	.	.	.	.	T	0.64670	0.2619	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67063	-0.5765	4	.	.	.	.	16.3295	0.83004	0.0:0.2175:0.0:0.7825	.	.	.	.	L	3557	.	.	S	+	2	0	TRRAP	98447818	0.000000	0.05858	0.457000	0.27056	0.951000	0.60555	-3.283000	0.00527	-1.185000	0.02716	-0.982000	0.02568	TCG		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
CPSF4	10898	broad.mit.edu	37	7	99051713	99051713	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:99051713C>T	ENST00000292476.5	+	7	705	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.A174V|CPSF4_ENST00000441580.1_Missense_Mutation_p.A154V|CPSF4_ENST00000436336.2_Missense_Mutation_p.A207V			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	232					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.A232V(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)					AACAGCAGCGCGGGCAACCGG	0.607																																					p.A207V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	7						.						69.0	82.0	78.0					7																	99051713		2203	4300	6503	98889649	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.695C>T	7.37:g.99051713C>T	ENSP00000292476:p.Ala232Val		98889649	NM_001081559	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.44|12.44	1.937813|1.937813	0.34189|0.34189	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580|ENST00000452047	T;T;T;T|T	0.76060|0.36699	-0.99;-0.99;-0.99;-0.99|1.24	5.67|5.67	2.55|2.55	0.30701|0.30701	.|.	0.741509|.	0.14291|.	N|.	0.328925|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.10296|.	0.0;0.001;0.003;0.001|.	B;B;B;B|.	0.04013|.	0.0;0.001;0.001;0.001|.	T|T	0.22138|0.22138	-1.0225|-1.0225	10|7	0.30854|0.87932	T|D	0.27|0	-0.5942|-0.5942	1.8694|1.8694	0.03205|0.03205	0.136:0.4312:0.1331:0.2997|0.136:0.4312:0.1331:0.2997	.|.	154;206;232;207|.	B7Z7B0;O95639-3;O95639;O95639-2|.	.;.;CPSF4_HUMAN;.|.	V|W	207;174;232;154|143	ENSP00000395311:A207V;ENSP00000396060:A174V;ENSP00000292476:A232V;ENSP00000402224:A154V|ENSP00000392584:R143W	ENSP00000292476:A232V|ENSP00000392584:R143W	A|R	+|+	2|1	0|2	CPSF4|CPSF4	98889649|98889649	0.391000|0.391000	0.25221|0.25221	0.995000|0.995000	0.50966|0.50966	0.843000|0.843000	0.47879|0.47879	0.882000|0.882000	0.28186|0.28186	0.786000|0.786000	0.33708|0.33708	-0.713000|-0.713000	0.03633|0.03633	GCG|CGG		0.607	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1		
OR2AE1	81392	broad.mit.edu	37	7	99474174	99474174	+	Silent	SNP	C	C	T	rs373434015		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:99474174C>T	ENST00000316368.2	-	1	506	c.483G>A	c.(481-483)gcG>gcA	p.A161A		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A161A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCATCAAGATCGCCATGTGAA	0.507																																					p.A161A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G483A	7						.						149.0	138.0	142.0					7																	99474174		2203	4300	6503	99312110	SO:0001819	synonymous_variant	81392	exon1			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.483G>A	7.37:g.99474174C>T			99312110	NM_001005276	B2RPD2	Silent	SNP	ENST00000316368.2	37	CCDS34696.1																																																																																				0.507	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1		
TRIM4	89122	broad.mit.edu	37	7	99490204	99490204	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:99490204C>A	ENST00000355947.2	-	7	1214	c.1085G>T	c.(1084-1086)aGa>aTa	p.R362I	TRIM4_ENST00000349062.2_Missense_Mutation_p.R336I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R362I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GTGCTGAAATCTCTCTACAAA	0.448																																					p.R362I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1085T	7						.						101.0	96.0	98.0					7																	99490204		2203	4300	6503	99328140	SO:0001583	missense	89122	exon7			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1085G>T	7.37:g.99490204C>A	ENSP00000348216:p.Arg362Ile		99328140	NM_033017	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	C	9.510	1.105565	0.20632	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.69926	-0.44;-0.44	2.42	-2.08	0.07254	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.70954	0.3283	M	0.90425	3.115	0.80722	D	1	P;P	0.48503	0.911;0.856	P;B	0.46208	0.507;0.309	T	0.71994	-0.4424	9	0.87932	D	0	.	7.5753	0.27933	0.0:0.4652:0.0:0.5348	.	336;362	Q9C037-2;Q9C037	.;TRIM4_HUMAN	I	362;336;192	ENSP00000348216:R362I;ENSP00000275736:R336I	ENSP00000275736:R336I	R	-	2	0	TRIM4	99328140	1.000000	0.71417	0.615000	0.29064	0.217000	0.24651	0.702000	0.25631	-0.589000	0.05874	-0.880000	0.02959	AGA		0.448	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017	
ZNF3	7551	broad.mit.edu	37	7	99669594	99669594	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:99669594G>A	ENST00000424697.1	-	6	819	c.513C>T	c.(511-513)agC>agT	p.S171S	ZNF3_ENST00000299667.4_Silent_p.S171S|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Silent_p.S171S	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	171					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.S171S(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TATATTTCTCGCTTCTCTCTC	0.488																																					p.S171S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C513T	7						.						132.0	130.0	131.0					7																	99669594		1935	4153	6088	99507530	SO:0001819	synonymous_variant	7551	exon6			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.513C>T	7.37:g.99669594G>A			99507530	NM_032924	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	37	CCDS43619.1																																																																																				0.488	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715	
AP4M1	9179	broad.mit.edu	37	7	99702868	99702871	+	Frame_Shift_Del	DEL	GGGC	GGGC	-			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	GGGC	GGGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:99702868_99702871delGGGC	ENST00000359593.4	+	10	891_894	c.733_736delGGGC	c.(733-738)gggccafs	p.GP245fs	AP4M1_ENST00000421755.1_Frame_Shift_Del_p.GP245fs|AP4M1_ENST00000422582.1_Frame_Shift_Del_p.GP117fs|AP4M1_ENST00000429084.1_Frame_Shift_Del_p.GP252fs	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	245	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.G245W(1)|p.G245fs*14(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCAGGTTATGGGCCAGGAATCCG	0.529																																					p.245_246del	Pancreas(174;1182 2812 29595 49511)											.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.733_736del	7						.																																			99540807	SO:0001589	frameshift_variant	9179	exon10			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.733_736delGGGC	7.37:g.99702868_99702871delGGGC	ENSP00000352603:p.Gly245fs		99540804	NM_004722	D6W5U1|Q8WV65|Q9UHK9	Frame_Shift_Del	DEL	ENST00000359593.4	37	CCDS5685.1																																																																																				0.529	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722	
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	CCT	CCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																					p.210_211del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.629_631del	7						.			14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				100122273	SO:0001651	inframe_deletion	64599	exon7			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del		100122271	NM_022574	Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574	
PTPRN2	5799	broad.mit.edu	37	7	157361617	157361617	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr7:157361617A>G	ENST00000389418.4	-	21	2888	c.2879T>C	c.(2878-2880)aTg>aCg	p.M960T	PTPRN2_ENST00000409483.1_Missense_Mutation_p.M922T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.M931T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.M943T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.M983T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	960	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.M960T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTTGAGAACCATGTCGATCAG	0.582																																					p.M931T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2792C	7						.						164.0	122.0	136.0					7																	157361617		2203	4300	6503	157054378	SO:0001583	missense	5799	exon20			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2879T>C	7.37:g.157361617A>G	ENSP00000374069:p.Met960Thr		157054378	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222910	0.79464	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.38692	1.165	0.58432	D	0.999993	D;D;D;D;D	0.65815	0.994;0.995;0.994;0.977;0.995	D;D;D;D;D	0.77004	0.982;0.989;0.982;0.917;0.984	T	0.02196	-1.1197	10	0.87932	D	0	.	14.0857	0.64954	1.0:0.0:0.0:0.0	.	983;922;931;943;960	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	922;931;943;960;983	ENSP00000387114:M922T;ENSP00000374064:M931T;ENSP00000374067:M943T;ENSP00000374069:M960T;ENSP00000385464:M983T	ENSP00000374064:M931T	M	-	2	0	PTPRN2	157054378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.460000	0.90369	1.852000	0.53769	0.533000	0.62120	ATG		0.582	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
ESRP1	54845	broad.mit.edu	37	8	95686610	95686611	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:95686610_95686611insA	ENST00000433389.2	+	12	1717_1718	c.1527_1528insA	c.(1528-1530)aaafs	p.K510fs	ESRP1_ENST00000423620.2_Frame_Shift_Ins_p.K510fs|ESRP1_ENST00000358397.5_Frame_Shift_Ins_p.K510fs|ESRP1_ENST00000454170.2_Frame_Shift_Ins_p.K510fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	510	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.N512fs*8(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGAAGTGTCATAAAAAAAACAT	0.436																																					p.H509fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1527_1528insA	8						.																																			95755787	SO:0001589	frameshift_variant	54845	exon12			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1535dupA	8.37:g.95686618_95686618dupA	ENSP00000405738:p.Lys510fs		95755786	NM_017697	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Frame_Shift_Ins	INS	ENST00000433389.2	37	CCDS47897.1																																																																																				0.436	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697	
SPAG1	6674	broad.mit.edu	37	8	101190056	101190056	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:101190056G>A	ENST00000388798.2	+	4	504	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	SPAG1_ENST00000251809.3_Missense_Mutation_p.E105K|SPAG1_ENST00000520643.1_Missense_Mutation_p.E105K|SPAG1_ENST00000520508.1_Missense_Mutation_p.E105K	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	105					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.E105K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ttgggtatcagaaattaaaaa	0.318																																					p.E105K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	8						.						43.0	42.0	42.0					8																	101190056		2203	4300	6503	101259232	SO:0001583	missense	6674	exon4			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.313G>A	8.37:g.101190056G>A	ENSP00000373450:p.Glu105Lys		101259232	NM_003114	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930748	0.73327	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.47	4.47	0.54385	.	0.124863	0.52532	D	0.000063	T	0.35278	0.0926	M	0.79475	2.455	0.40339	D	0.979016	D;D	0.76494	0.999;0.99	D;P	0.66084	0.941;0.904	T	0.16958	-1.0385	10	0.66056	D	0.02	-23.1876	12.8309	0.57746	0.0:0.0:1.0:0.0	.	105;105	Q07617;G3XAM3	SPAG1_HUMAN;.	K	105	ENSP00000427716:E105K;ENSP00000251809:E105K;ENSP00000428070:E105K;ENSP00000373450:E105K	ENSP00000251809:E105K	E	+	1	0	SPAG1	101259232	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	5.714000	0.68422	2.468000	0.83385	0.591000	0.81541	GAA		0.318	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218	
ANKRD46	157567	broad.mit.edu	37	8	101541899	101541899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:101541899G>A	ENST00000520552.1	-	3	324	c.163C>T	c.(163-165)Cga>Tga	p.R55*	ANKRD46_ENST00000519597.1_Nonsense_Mutation_p.R55*|ANKRD46_ENST00000519316.1_Nonsense_Mutation_p.R55*|ANKRD46_ENST00000520311.1_Nonsense_Mutation_p.R55*|ANKRD46_ENST00000335659.3_Nonsense_Mutation_p.R55*	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	55						integral component of membrane (GO:0016021)		p.R55*(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)			ACATTCCCTCGAGCTGCTGCA	0.488																																					p.R55X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C163T	8						.						127.0	112.0	117.0					8																	101541899		2203	4300	6503	101611075	SO:0001587	stop_gained	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.163C>T	8.37:g.101541899G>A	ENSP00000429015:p.Arg55*		101611075	NM_198401	Q6P9B7	Nonsense_Mutation	SNP	ENST00000520552.1	37	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	G	43	10.222288	0.99362	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	.	.	.	5.78	2.98	0.34508	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-22.6731	9.5573	0.39346	0.0657:0.0:0.5367:0.3976	.	.	.	.	X	55	.	ENSP00000335287:R55X	R	-	1	2	ANKRD46	101611075	1.000000	0.71417	0.961000	0.40146	0.981000	0.71138	3.289000	0.51747	0.349000	0.23975	0.655000	0.94253	CGA		0.488	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401	
PABPC1	26986	broad.mit.edu	37	8	101730112	101730112	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:101730112A>G	ENST00000318607.5	-	3	1520	c.392T>C	c.(391-393)gTt>gCt	p.V131A	PABPC1_ENST00000519004.1_Missense_Mutation_p.V86A|PABPC1_ENST00000522387.1_Missense_Mutation_p.V99A|PABPC1_ENST00000519596.1_5'Flank	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	131	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|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)|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)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.V131A(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTCATCACAAACCACCTAGGG	0.363																																					p.V131A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T392C	8						.						82.0	78.0	80.0					8																	101730112		2203	4300	6503	101799288	SO:0001583	missense	26986	exon3			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.392T>C	8.37:g.101730112A>G	ENSP00000313007:p.Val131Ala		101799288	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.128|9.128	1.010804|1.010804	0.19277|0.19277	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196	.|D;D;T;T	.|0.86030	.|-2.06;-2.06;2.18;2.18	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.100076	.|0.42053	.|D	.|0.000762	T|T	0.78201|0.78201	0.4246|0.4246	N|N	0.20807|0.20807	0.61|0.61	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B	.|0.31752	.|0.174;0.145;0.338	.|B;B;B	.|0.41946	.|0.371;0.203;0.203	T|T	0.72629|0.72629	-0.4235|-0.4235	5|10	.|0.02654	.|T	.|1	.|.	15.678|15.678	0.77344|0.77344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|99;131;131	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	L|A	3|131;131;86;99;86	.|ENSP00000313007:V131A;ENSP00000429594:V86A;ENSP00000429395:V99A;ENSP00000430159:V86A	.|ENSP00000313007:V131A	F|V	-|-	1|2	0|0	PABPC1|PABPC1	101799288|101799288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.233000|9.233000	0.95337|0.95337	2.170000|2.170000	0.68504|0.68504	0.533000|0.533000	0.62120|0.62120	TTT|GTT		0.363	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	
GRHL2	79977	broad.mit.edu	37	8	102678859	102678859	+	Silent	SNP	G	G	A	rs61732855	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:102678859G>A	ENST00000251808.3	+	16	2144	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S	GRHL2_ENST00000395927.1_Silent_p.S586S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	602					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S602S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGCACTACTCGAACGAGGACA	0.542																																					p.S602S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1806A	8						.						210.0	170.0	183.0					8																	102678859		2203	4300	6503	102748035	SO:0001819	synonymous_variant	79977	exon16			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1806G>A	8.37:g.102678859G>A			102748035	NM_024915	A1L303|Q6NT03|Q9H8B8	Silent	SNP	ENST00000251808.3	37	CCDS34931.1																																																																																				0.542	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	
RRM2B	50484	broad.mit.edu	37	8	103231120	103231120	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:103231120A>G	ENST00000251810.3	-	6	849	c.606T>C	c.(604-606)ttT>ttC	p.F202F	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.F150F	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	202					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.F202F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	ATATAGCAGCAAAAGATCCTG	0.398								Modulation of nucleotide pools																													p.F202F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T606C	8						.						119.0	125.0	123.0					8																	103231120		2203	4300	6503	103300296	SO:0001819	synonymous_variant	50484	exon6			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.606T>C	8.37:g.103231120A>G			103300296	NM_015713	B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Silent	SNP	ENST00000251810.3	37	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	A	9.761	1.170213	0.21621	.	.	ENSG00000048392	ENST00000522368	.	.	.	5.37	4.22	0.49857	.	.	.	.	.	T	0.62380	0.2423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59037	-0.7529	4	.	.	.	.	11.1064	0.48205	0.9276:0.0:0.0724:0.0	.	.	.	.	R	259	.	.	C	-	1	0	RRM2B	103300296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.098000	0.41757	0.879000	0.35944	0.528000	0.53228	TGC		0.398	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3		
UBR5	51366	broad.mit.edu	37	8	103266583	103266583	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:103266583G>T	ENST00000520539.1	-	59	8953	c.8347C>A	c.(8347-8349)Ctc>Atc	p.L2783I	KB-431C1.4_ENST00000499653.1_RNA|UBR5_ENST00000518205.1_Missense_Mutation_p.L511I|UBR5_ENST00000521922.1_Missense_Mutation_p.L2776I|UBR5_ENST00000220959.4_Missense_Mutation_p.L2782I|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000520820.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2783	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.L2783I(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCTGTTTGAGAATCTGTTTA	0.363																																					p.L2783I	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8347A	8						.						135.0	133.0	134.0					8																	103266583		2203	4300	6503	103335759	SO:0001583	missense	51366	exon59			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8347C>A	8.37:g.103266583G>T	ENSP00000429084:p.Leu2783Ile		103335759	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235841	0.58886	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.76	4.88	0.63580	HECT (4);	0.070243	0.64402	D	0.000019	T	0.79452	0.4448	M	0.91196	3.185	0.47994	D	0.999569	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.83277	-0.0040	10	0.87932	D	0	.	11.2749	0.49161	0.1568:0.0:0.8432:0.0	.	2776;2783	E7EMW7;O95071	.;UBR5_HUMAN	I	2783;2782;511;2776	ENSP00000429084:L2783I;ENSP00000220959:L2782I;ENSP00000428693:L511I;ENSP00000427819:L2776I	ENSP00000220959:L2782I	L	-	1	0	UBR5	103335759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.489000	0.81451	1.429000	0.47314	0.563000	0.77884	CTC		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
PRSS55	203074	broad.mit.edu	37	8	10396129	10396129	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:10396129C>T	ENST00000328655.3	+	5	925	c.885C>T	c.(883-885)atC>atT	p.I295I	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	295	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.I295I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ACCTCTGGATCGAGAAAGTGA	0.532																																					p.I295I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C885T	8						.						106.0	112.0	110.0					8																	10396129		2203	4300	6503	10433539	SO:0001819	synonymous_variant	203074	exon5			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.885C>T	8.37:g.10396129C>T			10433539	NM_198464	E5RJX5	Silent	SNP	ENST00000328655.3	37	CCDS5976.1																																																																																				0.532	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
ODF1	4956	broad.mit.edu	37	8	103564143	103564143	+	Missense_Mutation	SNP	G	G	A	rs201634418		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:103564143G>A	ENST00000285402.3	+	1	344	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	63	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.R63H(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AAGCGATCACGCTCTTGCGGC	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19584	0.0		0.0	False		,,,				2504	0.0				p.R63H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	8						.						340.0	272.0	295.0					8																	103564143		2203	4300	6503	103633319	SO:0001583	missense	4956	exon1			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.188G>A	8.37:g.103564143G>A	ENSP00000285402:p.Arg63His		103633319	NM_024410	Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.85	2.955203	0.53293	.	.	ENSG00000155087	ENST00000285402	T	0.39787	1.06	5.83	4.02	0.46733	.	0.235399	0.30630	N	0.009204	T	0.21718	0.0523	N	0.08118	0	0.22552	N	0.998999	B	0.09022	0.002	B	0.04013	0.001	T	0.12760	-1.0535	10	0.46703	T	0.11	-39.1307	8.3477	0.32284	0.1754:0.0:0.8246:0.0	.	63	Q14990	ODFP1_HUMAN	H	63	ENSP00000285402:R63H	ENSP00000285402:R63H	R	+	2	0	ODF1	103633319	0.118000	0.22208	0.143000	0.22291	0.683000	0.39861	2.123000	0.41996	1.454000	0.47793	0.655000	0.94253	CGC		0.493	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		
FZD6	8323	broad.mit.edu	37	8	104336727	104336727	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:104336727G>A	ENST00000358755.4	+	4	710	c.393G>A	c.(391-393)gaG>gaA	p.E131E	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Silent_p.E131E|FZD6_ENST00000523739.1_Silent_p.E99E	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	131	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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.E131E(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)			ACTGTGATGAGACTGTTCCTG	0.308																																					p.E131E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G393A	8						.						29.0	30.0	30.0					8																	104336727		2203	4300	6503	104405903	SO:0001819	synonymous_variant	8323	exon4			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.393G>A	8.37:g.104336727G>A			104405903	NM_001164615	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	CCDS6298.1																																																																																				0.308	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
DCAF13	25879	broad.mit.edu	37	8	104439410	104439410	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:104439410G>T	ENST00000297579.5	+	5	1287	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	DCAF13_ENST00000521971.1_Missense_Mutation_p.R145I|DCAF13_ENST00000519682.1_Missense_Mutation_p.R181I|DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	185					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.R337I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GATGAACAAAGAACTAATCCT	0.333																																					p.R337I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1010T	8						.						93.0	89.0	90.0					8																	104439410		2203	4300	6503	104508586	SO:0001583	missense	25879	exon5			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1010G>T	8.37:g.104439410G>T	ENSP00000297579:p.Arg337Ile		104508586	NM_015420	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641807	0.67244	.	.	ENSG00000164934	ENST00000297579;ENST00000521971;ENST00000519682	T;T;T	0.01359	4.98;4.98;4.98	5.86	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042650	0.85682	D	0.000000	T	0.11580	0.0282	M	0.93283	3.4	0.80722	D	1	P;D	0.76494	0.811;0.999	P;D	0.72338	0.481;0.977	T	0.00742	-1.1585	10	0.66056	D	0.02	-20.827	12.5428	0.56182	0.1347:0.0:0.8653:0.0	.	185;185	B3KME9;Q9NV06	.;DCA13_HUMAN	I	337;145;181	ENSP00000297579:R337I;ENSP00000430883:R145I;ENSP00000430411:R181I	ENSP00000297579:R337I	R	+	2	0	DCAF13	104508586	1.000000	0.71417	0.985000	0.45067	0.880000	0.50808	7.408000	0.80041	0.831000	0.34780	-0.237000	0.12165	AGA		0.333	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	
RIMS2	9699	broad.mit.edu	37	8	104778625	104778625	+	Silent	SNP	G	G	A	rs186385831		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:104778625G>A	ENST00000406091.3	+	3	558	c.558G>A	c.(556-558)caG>caA	p.Q186Q		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	217					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.Q222Q(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)			TACATGAGCAGACCCAGTTCC	0.458										HNSCC(12;0.0054)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18379	0.001		0.0	False		,,,				2504	0.0				p.Q186Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G558A	8						.						139.0	137.0	138.0					8																	104778625		1916	4121	6037	104847801	SO:0001819	synonymous_variant	9699	exon3			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		ENST00000406091.3:c.558G>A	8.37:g.104778625G>A			104847801	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000406091.3	37	CCDS55269.1																																																																																				0.458	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117	
RP1L1	94137	broad.mit.edu	37	8	10467555	10467555	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:10467555T>G	ENST00000382483.3	-	4	4276	c.4053A>C	c.(4051-4053)gaA>gaC	p.E1351D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1381	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1351D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		gcgcctcttcttcttgctgtc	0.488																																					p.E1351D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4053C	8						.						91.0	91.0	91.0					8																	10467555		1933	4121	6054	10504965	SO:0001583	missense	94137	exon4			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4053A>C	8.37:g.10467555T>G	ENSP00000371923:p.Glu1351Asp		10504965	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297159	0.23650	.	.	ENSG00000183638	ENST00000382483	T	0.07216	3.21	2.94	-1.39	0.08997	.	.	.	.	.	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	P	0.38473	0.633	B	0.26969	0.075	T	0.39099	-0.9630	9	0.42905	T	0.14	.	3.0423	0.06142	0.3436:0.3463:0.0:0.3101	.	1351	A6NKC6	.	D	1351	ENSP00000371923:E1351D	ENSP00000371923:E1351D	E	-	3	2	RP1L1	10504965	0.059000	0.20769	0.001000	0.08648	0.004000	0.04260	0.219000	0.17641	-0.139000	0.11414	0.260000	0.18958	GAA		0.488	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RIMS2	9699	broad.mit.edu	37	8	104948865	104948865	+	Missense_Mutation	SNP	G	G	A	rs538104363		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:104948865G>A	ENST00000436393.2	+	11	2037	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	RIMS2_ENST00000406091.3_Missense_Mutation_p.R821Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.R613Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R660Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	883					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.R613Q(3)|p.R888Q(3)|p.R599Q(3)		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)			CCAGTCCACCGAAGAGAATTT	0.388										HNSCC(12;0.0054)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		14846	0.0		0.0	False		,,,				2504	0.0				p.R821Q												.	.	9	Substitution - Missense(9)	large_intestine(6)|central_nervous_system(3)	c.G2462A	8						.						125.0	117.0	120.0					8																	104948865		1848	4088	5936	105018041	SO:0001583	missense	9699	exon13			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.1796G>A	8.37:g.104948865G>A	ENSP00000390665:p.Arg599Gln		105018041	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.489179	0.84962	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.83820	0.5337	L	0.41492	1.28	0.80722	D	1	P;P;D;B;B;B	0.69078	0.506;0.672;0.997;0.282;0.155;0.428	B;B;D;B;B;B	0.78314	0.115;0.13;0.991;0.07;0.07;0.07	D	0.85442	0.1155	9	0.59425	D	0.04	.	17.9807	0.89140	0.0:0.0:1.0:0.0	.	883;883;599;660;613;821	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	Q	821;836;821;883;613;660;613;613;599	ENSP00000427018:R821Q;ENSP00000384892:R821Q;ENSP00000425205:R613Q;ENSP00000262231:R660Q;ENSP00000423559:R613Q;ENSP00000386228:R613Q;ENSP00000390665:R599Q	ENSP00000262231:R660Q	R	+	2	0	RIMS2	105018041	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.751000	0.98889	2.309000	0.77851	0.467000	0.42956	CGA		0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
LRP12	29967	broad.mit.edu	37	8	105509965	105509965	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:105509965G>A	ENST00000276654.5	-	5	923	c.815C>T	c.(814-816)tCt>tTt	p.S272F	LRP12_ENST00000424843.2_Missense_Mutation_p.S253F|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	272	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.S272F(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)			ATAATTGGGAGAATTAAAAGT	0.398																																					p.S272F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C815T	8						.						59.0	62.0	61.0					8																	105509965		2203	4300	6503	105579141	SO:0001583	missense	29967	exon5			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.815C>T	8.37:g.105509965G>A	ENSP00000276654:p.Ser272Phe		105579141	NM_013437	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308488	0.81247	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.32272	1.46;1.46	5.66	5.66	0.87406	CUB (5);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	H	0.97491	4.015	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.82711	-0.0322	10	0.87932	D	0	-27.0516	19.7554	0.96287	0.0:0.0:1.0:0.0	.	253;272	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	F	253;272	ENSP00000399148:S253F;ENSP00000276654:S272F	ENSP00000276654:S272F	S	-	2	0	LRP12	105579141	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.665000	0.90641	0.563000	0.77884	TCT		0.398	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
ABRA	137735	broad.mit.edu	37	8	107773387	107773387	+	Missense_Mutation	SNP	G	G	A	rs370150080		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:107773387G>A	ENST00000311955.3	-	2	1078	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.R342C(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCTGAAATACGAACGTATCTG	0.463																																					p.R342C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1024T	8						.	G	CYS/ARG	0,4406		0,0,2203	166.0	150.0	156.0		1024	5.0	0.9	8		156	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABRA	NM_139166.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	342/382	107773387	1,13005	2203	4300	6503	107842563	SO:0001583	missense	137735	exon2			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.1024C>T	8.37:g.107773387G>A	ENSP00000311436:p.Arg342Cys		107842563	NM_139166		Missense_Mutation	SNP	ENST00000311955.3	37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239422	0.79800	0.0	1.16E-4	ENSG00000174429	ENST00000311955	.	.	.	5.94	5.03	0.67393	.	0.100121	0.64402	D	0.000002	T	0.67813	0.2933	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	T	0.69617	-0.5097	9	0.72032	D	0.01	-6.009	16.5814	0.84716	0.0:0.0:0.8692:0.1308	.	342	Q8N0Z2	ABRA_HUMAN	C	342	.	ENSP00000311436:R342C	R	-	1	0	ABRA	107842563	1.000000	0.71417	0.861000	0.33841	0.988000	0.76386	4.740000	0.62087	2.807000	0.96579	0.650000	0.86243	CGT		0.463	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166	
RSPO2	340419	broad.mit.edu	37	8	109001396	109001396	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:109001396C>A	ENST00000276659.5	-	3	791	c.171G>T	c.(169-171)caG>caT	p.Q57H	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	57					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.Q57H(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AGAACAACTTCTGTTGACATC	0.448																																					p.Q57H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171T	8						.						117.0	97.0	104.0					8																	109001396		2203	4300	6503	109070572	SO:0001583	missense	340419	exon3			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.171G>T	8.37:g.109001396C>A	ENSP00000276659:p.Gln57His		109070572	NM_178565	B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008199	0.35415	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.04	2.81	0.32909	Growth factor, receptor (1);	0.251846	0.40908	D	0.000982	T	0.47911	0.1471	N	0.03967	-0.31	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42447	-0.9451	10	0.44086	T	0.13	-2.2047	0.6322	0.00796	0.1665:0.347:0.188:0.2985	.	57	Q6UXX9	RSPO2_HUMAN	H	57;57;29;57	ENSP00000276659:Q57H;ENSP00000430010:Q57H;ENSP00000429159:Q29H;ENSP00000430973:Q57H	ENSP00000276659:Q57H	Q	-	3	2	RSPO2	109070572	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.406000	0.34646	1.246000	0.43901	0.557000	0.71058	CAG		0.448	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565	
TRHR	7201	broad.mit.edu	37	8	110099988	110099988	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:110099988A>G	ENST00000518632.1	+	2	598	c.247A>G	c.(247-249)Ata>Gta	p.I83V	TRHR_ENST00000311762.2_Missense_Mutation_p.I83V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	83					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.I83V(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)			CCTCCCCAACATAACAGACAG	0.498																																					p.I83V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A247G	8						.						144.0	134.0	137.0					8																	110099988		2203	4300	6503	110169164	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.247A>G	8.37:g.110099988A>G	ENSP00000430711:p.Ile83Val		110169164	NM_003301	Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	A	3.820	-0.038033	0.07497	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.37584	1.19;1.19	5.85	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.042337	0.85682	N	0.000000	T	0.19525	0.0469	N	0.11756	0.17	0.44330	D	0.99721	B	0.31125	0.309	B	0.36666	0.23	T	0.05241	-1.0897	10	0.10902	T	0.67	-31.5792	9.2213	0.37379	0.7939:0.0:0.2061:0.0	.	83	P34981	TRFR_HUMAN	V	83	ENSP00000430711:I83V;ENSP00000309818:I83V	ENSP00000309818:I83V	I	+	1	0	TRHR	110169164	1.000000	0.71417	0.754000	0.31244	0.534000	0.34807	6.367000	0.73099	0.136000	0.18733	0.533000	0.62120	ATA		0.498	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	110131518	110131518	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:110131518A>C	ENST00000518632.1	+	3	1382	c.1031A>C	c.(1030-1032)aAa>aCa	p.K344T	TRHR_ENST00000311762.2_Missense_Mutation_p.K344T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	344					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.K344T(2)		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)			CCAACAGAGAAACCTGCTAAC	0.473																																					p.K344T												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.A1031C	8						.						153.0	147.0	149.0					8																	110131518		2203	4299	6502	110200694	SO:0001583	missense	7201	exon2				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.1031A>C	8.37:g.110131518A>C	ENSP00000430711:p.Lys344Thr		110200694	NM_003301	Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479586	0.44044	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.59502	0.26;0.26	5.86	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.69823	2.125	0.58432	D	0.999998	B	0.26635	0.155	B	0.29862	0.108	T	0.50625	-0.8806	10	0.23891	T	0.37	-9.5365	11.3532	0.49600	0.9292:0.0:0.0708:0.0	.	344	P34981	TRFR_HUMAN	T	344	ENSP00000430711:K344T;ENSP00000309818:K344T	ENSP00000309818:K344T	K	+	2	0	TRHR	110200694	1.000000	0.71417	0.090000	0.20809	0.901000	0.52897	8.871000	0.92346	1.041000	0.40125	0.477000	0.44152	AAA		0.473	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	110305624	110305624	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:110305624T>G	ENST00000239690.4	-	4	963	c.589A>C	c.(589-591)Agt>Cgt	p.S197R	NUDCD1_ENST00000427660.2_Missense_Mutation_p.S168R	NM_032869.3	NP_116258.2			NudC domain containing 1									p.S197R(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)			TAGAAACCACTTCCTTTCATA	0.348																																					p.S197R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A589C	8						.						132.0	138.0	136.0					8																	110305624		2203	4300	6503	110374800	SO:0001583	missense	84955	exon4			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.589A>C	8.37:g.110305624T>G	ENSP00000239690:p.Ser197Arg		110374800	NM_032869		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669293	0.88348	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.19806	2.13;2.12	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.64997	1.995	0.54753	D	0.999988	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.989;0.964;0.97	T	0.31308	-0.9948	10	0.56958	D	0.05	-9.4923	15.5755	0.76380	0.0:0.0:0.0:1.0	.	110;197;168	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	R	197;168	ENSP00000239690:S197R;ENSP00000410707:S168R	ENSP00000239690:S197R	S	-	1	0	NUDCD1	110374800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.475000	0.73582	2.281000	0.76405	0.533000	0.62120	AGT		0.348	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869	
PKHD1L1	93035	broad.mit.edu	37	8	110451219	110451219	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:110451219T>G	ENST00000378402.5	+	32	3958	c.3854T>G	c.(3853-3855)cTt>cGt	p.L1285R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1285	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L1287R(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)			TGCCAGATTCTTCACTGGAAC	0.383										HNSCC(38;0.096)																											p.L1285R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3854G	8						.						106.0	103.0	104.0					8																	110451219		1831	4080	5911	110520395	SO:0001583	missense	93035	exon32			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.3854T>G	8.37:g.110451219T>G	ENSP00000367655:p.Leu1285Arg		110520395	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676294	0.88445	.	.	ENSG00000205038	ENST00000378402	T	0.77098	-1.07	6.07	6.07	0.98685	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.093308	0.44902	D	0.000405	D	0.86318	0.5904	M	0.80616	2.505	0.35222	D	0.776118	P	0.50066	0.931	P	0.57371	0.819	D	0.90955	0.4808	10	0.54805	T	0.06	.	14.5927	0.68378	0.0:0.0:0.0:1.0	.	1285	Q86WI1	PKHL1_HUMAN	R	1285	ENSP00000367655:L1285R	ENSP00000367655:L1285R	L	+	2	0	PKHD1L1	110520395	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	5.250000	0.65432	2.326000	0.78906	0.533000	0.62120	CTT		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110453549	110453549	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:110453549A>C	ENST00000378402.5	+	34	4249	c.4145A>C	c.(4144-4146)aAa>aCa	p.K1382T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1382	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.K1384T(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)			AATGTCATAAAATGTATTCTT	0.303										HNSCC(38;0.096)																											p.K1382T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4145C	8						.						48.0	48.0	48.0					8																	110453549		1811	4064	5875	110522725	SO:0001583	missense	93035	exon34			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.4145A>C	8.37:g.110453549A>C	ENSP00000367655:p.Lys1382Thr		110522725	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	2.475	-0.321003	0.05386	.	.	ENSG00000205038	ENST00000378402	T	0.75050	-0.9	5.38	-0.0845	0.13689	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.256167	0.32147	N	0.006519	T	0.44540	0.1298	N	0.13299	0.325	0.23120	N	0.998263	B	0.10296	0.003	B	0.12156	0.007	T	0.14227	-1.0480	10	0.07990	T	0.79	.	1.5447	0.02563	0.495:0.1332:0.2421:0.1297	.	1382	Q86WI1	PKHL1_HUMAN	T	1382	ENSP00000367655:K1382T	ENSP00000367655:K1382T	K	+	2	0	PKHD1L1	110522725	1.000000	0.71417	0.989000	0.46669	0.316000	0.28119	1.512000	0.35812	0.106000	0.17784	-0.256000	0.11100	AAA		0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110491797	110491797	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:110491797C>A	ENST00000378402.5	+	54	9211	c.9107C>A	c.(9106-9108)tCt>tAt	p.S3036Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3036	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S3038Y(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)			TCAAATGATTCTTTTTGGCAA	0.328										HNSCC(38;0.096)																											p.S3036Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9107A	8						.						132.0	115.0	120.0					8																	110491797		1824	4076	5900	110560973	SO:0001583	missense	93035	exon54			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.9107C>A	8.37:g.110491797C>A	ENSP00000367655:p.Ser3036Tyr		110560973	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439017	0.83885	.	.	ENSG00000205038	ENST00000378402	D	0.90444	-2.67	5.97	5.97	0.96955	G8 domain (2);	0.000000	0.85682	D	0.000000	D	0.94026	0.8086	M	0.71581	2.175	0.39678	D	0.970868	D	0.54772	0.968	P	0.57283	0.817	D	0.94593	0.7789	10	0.87932	D	0	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	3036	Q86WI1	PKHL1_HUMAN	Y	3036	ENSP00000367655:S3036Y	ENSP00000367655:S3036Y	S	+	2	0	PKHD1L1	110560973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.236000	0.65354	2.836000	0.97738	0.655000	0.94253	TCT		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
EBAG9	9166	broad.mit.edu	37	8	110563072	110563072	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:110563072C>T	ENST00000337573.5	+	2	319	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	EBAG9_ENST00000395785.2_Missense_Mutation_p.R7W|EBAG9_ENST00000531677.1_Missense_Mutation_p.R7W|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	7					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.R7W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CACCCAGTTTCGGTTATTTAA	0.348																																					p.R7W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19T	8						.						84.0	76.0	78.0					8																	110563072		2203	4299	6502	110632248	SO:0001583	missense	9166	exon2			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.19C>T	8.37:g.110563072C>T	ENSP00000337675:p.Arg7Trp		110632248	NM_198120	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916084	0.92178	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000534318;ENST00000531677	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.77644	0.4161	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.78448	-0.2200	9	0.66056	D	0.02	-16.8187	17.4978	0.87723	0.0:1.0:0.0:0.0	.	7	O00559	RCAS1_HUMAN	W	7	.	ENSP00000337675:R7W	R	+	1	2	EBAG9	110632248	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.674000	0.68117	2.880000	0.98712	0.650000	0.86243	CGG		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-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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	113318264	113318264	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:113318264G>A	ENST00000297405.5	-	51	8287	c.8043C>T	c.(8041-8043)agC>agT	p.S2681S	CSMD3_ENST00000343508.3_Silent_p.S2641S|CSMD3_ENST00000455883.2_Silent_p.S2577S|CSMD3_ENST00000352409.3_Silent_p.S2611S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2681	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2681S(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						TGTTATGATTGCTCCATGTTC	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.S2681S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8043T	8						.						220.0	200.0	207.0					8																	113318264		2203	4300	6503	113387440	SO:0001819	synonymous_variant	114788	exon51			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.8043C>T	8.37:g.113318264G>A			113387440	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113347673	113347673	+	Silent	SNP	G	G	A	rs142588028		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:113347673G>A	ENST00000297405.5	-	45	7294	c.7050C>T	c.(7048-7050)atC>atT	p.I2350I	CSMD3_ENST00000343508.3_Silent_p.I2310I|CSMD3_ENST00000455883.2_Silent_p.I2246I|CSMD3_ENST00000352409.3_Silent_p.I2280I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2350	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I2350I(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						TGAACTGACCGATCTGAGGTG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.I2350I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7050T	8						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	120.0	108.0	112.0		6738,7050,6930	-9.3	0.2	8	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	2246/3539,2350/3708,2310/3668	113347673	1,13005	2203	4300	6503	113416849	SO:0001819	synonymous_variant	114788	exon45			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.7050C>T	8.37:g.113347673G>A			113416849	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113349922	113349922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:113349922G>A	ENST00000297405.5	-	43	6935	c.6691C>T	c.(6691-6693)Cga>Tga	p.R2231*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2191*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2127*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2161*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2231	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2231*(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						AAACCATTTCGAAACGGGCGT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.R2231X												CSMD3,kidney,NS,Substitution - Missense,+1 	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6691T	8						.						92.0	94.0	93.0					8																	113349922		2203	4300	6503	113419098	SO:0001587	stop_gained	114788	exon43			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.6691C>T	8.37:g.113349922G>A	ENSP00000297405:p.Arg2231*		113419098	NM_198123	Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	49	15.785525	0.99845	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.64	3.8	0.43715	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	14.8844	0.70557	0.0:0.0:0.7383:0.2616	.	.	.	.	X	2191;2231;1501;2127;2161	.	ENSP00000297405:R2231X	R	-	1	2	CSMD3	113419098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.490000	0.45294	0.889000	0.36185	0.650000	0.86243	CGA		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113402987	113402987	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:113402987T>G	ENST00000297405.5	-	36	6084	c.5840A>C	c.(5839-5841)aAa>aCa	p.K1947T	CSMD3_ENST00000343508.3_Missense_Mutation_p.K1907T|CSMD3_ENST00000455883.2_Missense_Mutation_p.K1843T|CSMD3_ENST00000352409.3_Missense_Mutation_p.K1877T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1947	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K1947T(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						AATAGTCCCTTTGCGCTTAGT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.K1947T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5840C	8						.						88.0	80.0	83.0					8																	113402987		2203	4300	6503	113472163	SO:0001583	missense	114788	exon36			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.5840A>C	8.37:g.113402987T>G	ENSP00000297405:p.Lys1947Thr		113472163	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522627	0.44866	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.24	4.08	0.47627	CUB (5);	0.076245	0.47455	D	0.000236	T	0.14013	0.0339	N	0.02379	-0.575	0.40321	D	0.978821	P;P;D	0.58620	0.917;0.534;0.983	P;P;P	0.61397	0.709;0.566;0.888	T	0.32745	-0.9895	10	0.28530	T	0.3	.	11.0946	0.48137	0.0:0.0724:0.0:0.9276	.	1843;1947;1907	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	1907;1947;1217;1843;1877	ENSP00000345799:K1907T;ENSP00000297405:K1947T;ENSP00000341558:K1217T;ENSP00000412263:K1843T;ENSP00000343124:K1877T	ENSP00000297405:K1947T	K	-	2	0	CSMD3	113472163	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	3.031000	0.49728	1.016000	0.39470	0.383000	0.25322	AAA		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113657379	113657379	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:113657379G>T	ENST00000297405.5	-	20	3513	c.3269C>A	c.(3268-3270)tCt>tAt	p.S1090Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1050Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S986Y|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1090Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1090	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1090Y(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						ACAATTCAGAGAATTTGGATA	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.S1090Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3269A	8						.						92.0	92.0	92.0					8																	113657379		2203	4300	6503	113726555	SO:0001583	missense	114788	exon20			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.3269C>A	8.37:g.113657379G>T	ENSP00000297405:p.Ser1090Tyr		113726555	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961667	0.74016	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.68	5.68	0.88126	CUB (5);	0.073489	0.56097	D	0.000033	T	0.45796	0.1360	L	0.31420	0.93	0.42017	D	0.990967	B;B;D	0.67145	0.016;0.02;0.996	B;B;D	0.66602	0.026;0.044;0.945	T	0.40001	-0.9586	10	0.72032	D	0.01	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	986;1090;1050	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	1050;1090;430;986;1090	ENSP00000345799:S1050Y;ENSP00000297405:S1090Y;ENSP00000341558:S430Y;ENSP00000412263:S986Y;ENSP00000343124:S1090Y	ENSP00000297405:S1090Y	S	-	2	0	CSMD3	113726555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.677000	0.74503	2.838000	0.97847	0.591000	0.81541	TCT		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	114111092	114111092	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:114111092G>T	ENST00000297405.5	-	5	1054	c.810C>A	c.(808-810)acC>acA	p.T270T	CSMD3_ENST00000343508.3_Silent_p.T230T|CSMD3_ENST00000455883.2_Silent_p.T270T|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.T270T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	270	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T270T(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						CTGCTACAATGGTCCAAGTGC	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.T270T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C810A	8						.						123.0	108.0	113.0					8																	114111092		2203	4300	6503	114180268	SO:0001819	synonymous_variant	114788	exon5			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.810C>A	8.37:g.114111092G>T			114180268	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRPS1	7227	broad.mit.edu	37	8	116616197	116616197	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:116616197A>G	ENST00000220888.5	-	3	2119	c.1960T>C	c.(1960-1962)Tcg>Ccg	p.S654P	TRPS1_ENST00000520276.1_Missense_Mutation_p.S658P|TRPS1_ENST00000395715.3_Missense_Mutation_p.S667P|TRPS1_ENST00000519076.1_Missense_Mutation_p.S408P|TRPS1_ENST00000519674.1_Missense_Mutation_p.S654P			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	654	Mediates interaction with GLI3.		S -> L (in dbSNP:rs7002384).		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.S654P(1)|p.S654T(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)			TGCCCATCCGATCCTTGCAGG	0.453									Langer-Giedion syndrome																												p.S667P												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.T1999C	8						.						107.0	103.0	104.0					8																	116616197		2015	4171	6186	116685372	SO:0001583	missense	7227	exon4	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.1960T>C	8.37:g.116616197A>G	ENSP00000220888:p.Ser654Pro		116685372	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	A	5.151	0.213460	0.09757	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	5.77	-2.47	0.06442	.	0.739147	0.13053	N	0.417528	T	0.05914	0.0154	N	0.14661	0.345	0.23254	N	0.998036	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30650	-0.9971	10	0.54805	T	0.06	.	2.5561	0.04760	0.3249:0.2601:0.3163:0.0986	.	658;654;667	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	P	667;654;408;658;654	ENSP00000379065:S667P;ENSP00000220888:S654P;ENSP00000428910:S408P;ENSP00000428680:S658P;ENSP00000429174:S654P	ENSP00000220888:S654P	S	-	1	0	TRPS1	116685372	0.000000	0.05858	0.161000	0.22692	0.244000	0.25665	-0.027000	0.12371	-0.037000	0.13646	0.533000	0.62120	TCG		0.453	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
AARD	441376	broad.mit.edu	37	8	117950517	117950517	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:117950517G>T	ENST00000378279.3	+	1	80	c.35G>T	c.(34-36)aGa>aTa	p.R12I		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	12					lung development (GO:0030324)			p.R12I(1)									TGCAGAGAGAGAATTTCCCAG	0.607																																					p.R12I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G35T	8						.						18.0	22.0	21.0					8																	117950517		2202	4299	6501	118019698	SO:0001583	missense	441376	exon1			AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"""Alanine and arginine-rich domain-containing protein"""		"""chromosome 8 open reading frame 85"""	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.35G>T	8.37:g.117950517G>T	ENSP00000367528:p.Arg12Ile		118019698	NM_001025357	A5PKU8	Missense_Mutation	SNP	ENST00000378279.3	37	CCDS34935.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769947	0.49680	.	.	ENSG00000205002	ENST00000378279	T	0.35421	1.31	3.52	2.58	0.30949	.	1.454140	0.04605	N	0.399148	T	0.35799	0.0944	N	0.24115	0.695	0.09310	N	0.999999	D	0.60160	0.987	P	0.52217	0.693	T	0.21759	-1.0236	10	0.54805	T	0.06	0.1628	5.7382	0.18079	0.1675:0.0:0.8325:0.0	.	12	Q4LEZ3	AARD_HUMAN	I	12	ENSP00000367528:R12I	ENSP00000367528:R12I	R	+	2	0	C8orf85	118019698	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.161000	0.16481	0.746000	0.32786	0.557000	0.71058	AGA		0.607	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357	
ENPP2	5168	broad.mit.edu	37	8	120598544	120598544	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:120598544G>T	ENST00000075322.6	-	15	1307	c.1249C>A	c.(1249-1251)Cca>Aca	p.P417T	ENPP2_ENST00000259486.6_Missense_Mutation_p.P469T|ENPP2_ENST00000427067.2_Missense_Mutation_p.P413T|ENPP2_ENST00000522826.1_Missense_Mutation_p.P417T|ENPP2_ENST00000522167.1_Missense_Mutation_p.P56T	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	417					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P469T(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCTGATCTGGTTTTTTACAC	0.363																																					p.P417T	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1249A	8						.						161.0	143.0	149.0					8																	120598544		2203	4300	6503	120667725	SO:0001583	missense	5168	exon15			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1249C>A	8.37:g.120598544G>T	ENSP00000075322:p.Pro417Thr		120667725	NM_001130863	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667160	0.29604	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.64	4.76	0.60689	Alkaline-phosphatase-like, core domain (1);	0.278869	0.41001	D	0.000970	T	0.72977	0.3528	M	0.71036	2.16	0.50171	D	0.999854	B;B;B;B	0.33807	0.343;0.211;0.426;0.183	B;B;B;B	0.40410	0.328;0.111;0.318;0.195	T	0.74247	-0.3727	10	0.56958	D	0.05	.	12.2231	0.54445	0.0:0.1298:0.7353:0.1349	.	417;417;469;56	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	T	469;413;56;417;417	ENSP00000259486:P469T;ENSP00000403315:P413T;ENSP00000429476:P56T;ENSP00000428291:P417T;ENSP00000075322:P417T	ENSP00000075322:P417T	P	-	1	0	ENPP2	120667725	0.998000	0.40836	1.000000	0.80357	0.800000	0.45204	1.950000	0.40323	1.367000	0.46095	-0.315000	0.08773	CCA		0.363	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
DEPTOR	64798	broad.mit.edu	37	8	121019105	121019105	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:121019105G>T	ENST00000286234.5	+	7	1117	c.987G>T	c.(985-987)aaG>aaT	p.K329N	DEPTOR_ENST00000523492.1_Missense_Mutation_p.K228N|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	329					intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.K329N(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGCAAGGAAGACATTCACGG	0.498																																					p.K329N												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G987T	8						.						145.0	120.0	129.0					8																	121019105		2203	4300	6503	121088286	SO:0001583	missense	64798	exon7				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.987G>T	8.37:g.121019105G>T	ENSP00000286234:p.Lys329Asn		121088286	NM_022783	B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768515	0.69878	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.30714	1.52;1.52	5.2	4.31	0.51392	PDZ/DHR/GLGF (1);	0.139857	0.64402	D	0.000008	T	0.51517	0.1679	M	0.76170	2.325	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.96	T	0.54139	-0.8338	10	0.72032	D	0.01	-34.4088	8.7159	0.34411	0.2145:0.0:0.7855:0.0	.	228;329	E7EV87;Q8TB45	.;DPTOR_HUMAN	N	228;329	ENSP00000430457:K228N;ENSP00000286234:K329N	ENSP00000286234:K329N	K	+	3	2	DEPTOR	121088286	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.829000	0.48128	1.411000	0.46957	0.655000	0.94253	AAG		0.498	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	
FBXO32	114907	broad.mit.edu	37	8	124525494	124525494	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:124525494G>A	ENST00000517956.1	-	6	786	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	199					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)		p.R199W(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTCTCCATCCGATACACCCAC	0.547																																					p.R199W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C595T	8						.						149.0	121.0	131.0					8																	124525494		2203	4300	6503	124594675	SO:0001583	missense	114907	exon6			AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.595C>T	8.37:g.124525494G>A	ENSP00000428205:p.Arg199Trp		124594675	NM_058229	A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051351	0.75960	.	.	ENSG00000156804	ENST00000517956	T	0.21932	1.98	5.64	3.8	0.43715	.	0.048897	0.85682	N	0.000000	T	0.46483	0.1395	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43180	-0.9407	10	0.72032	D	0.01	-2.0543	8.0092	0.30342	0.0766:0.0:0.5005:0.4229	.	199	Q969P5	FBX32_HUMAN	W	199	ENSP00000428205:R199W	ENSP00000428205:R199W	R	-	1	2	FBXO32	124594675	1.000000	0.71417	0.052000	0.19188	0.994000	0.84299	4.109000	0.57824	0.693000	0.31634	0.561000	0.74099	CGG		0.547	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1		
ANXA13	312	broad.mit.edu	37	8	124707776	124707776	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:124707776C>A	ENST00000419625.1	-	6	509	c.437G>T	c.(436-438)gGa>gTa	p.G146V	ANXA13_ENST00000262219.6_Missense_Mutation_p.G187V	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	146					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)	p.G187V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTAGGTTTCCACTTGTATC	0.423																																					p.G146V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437T	8						.						156.0	154.0	155.0					8																	124707776		2203	4300	6503	124776957	SO:0001583	missense	312	exon6			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.437G>T	8.37:g.124707776C>A	ENSP00000390809:p.Gly146Val		124776957	NM_004306	Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280329	0.80692	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.19105	2.17;2.17	6.04	6.04	0.98038	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	H	0.99225	4.475	0.80722	D	1	P;P	0.36065	0.535;0.479	B;B	0.37731	0.257;0.251	T	0.69412	-0.5152	10	0.66056	D	0.02	.	19.3507	0.94384	0.0:1.0:0.0:0.0	.	146;187	P27216;P27216-2	ANX13_HUMAN;.	V	187;146	ENSP00000262219:G187V;ENSP00000390809:G146V	ENSP00000262219:G187V	G	-	2	0	ANXA13	124776957	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.320000	0.65841	2.873000	0.98535	0.561000	0.74099	GGA		0.423	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306	
FER1L6	654463	broad.mit.edu	37	8	125076739	125076739	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:125076739C>T	ENST00000522917.1	+	26	3686	c.3480C>T	c.(3478-3480)gtC>gtT	p.V1160V	FER1L6_ENST00000399018.1_Silent_p.V1160V|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1160						integral component of membrane (GO:0016021)		p.V1160V(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)			TGGTTGACGTCCCTGACTCAT	0.562																																					p.V1160V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3480T	8						.						70.0	75.0	73.0					8																	125076739		2004	4176	6180	125145920	SO:0001819	synonymous_variant	654463	exon26			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.3480C>T	8.37:g.125076739C>T			125145920	NM_001039112		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.562	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125131169	125131169	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:125131169C>T	ENST00000522917.1	+	40	5580	c.5374C>T	c.(5374-5376)Ccc>Tcc	p.P1792S	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1792S|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1792						integral component of membrane (GO:0016021)		p.P1792S(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)			GGAGCCAGAGCCCCTGGCCAA	0.493																																					p.P1792S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5374T	8						.						47.0	48.0	48.0					8																	125131169		1851	4105	5956	125200350	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.5374C>T	8.37:g.125131169C>T	ENSP00000428280:p.Pro1792Ser		125200350	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048347	0.93740	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83506	-1.73;-1.73	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.91304	0.7258	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90962	0.4813	10	0.54805	T	0.06	-20.6908	19.8145	0.96560	0.0:1.0:0.0:0.0	.	1792	Q2WGJ9	FR1L6_HUMAN	S	1792	ENSP00000428280:P1792S;ENSP00000381982:P1792S	ENSP00000381982:P1792S	P	+	1	0	FER1L6	125200350	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.756000	0.85195	2.683000	0.91414	0.563000	0.77884	CCC		0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
TATDN1	83940	broad.mit.edu	37	8	125499624	125499624	+	IGR	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:125499624T>G	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.I578M	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.I578M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCTGTACATTCAAGATACTT	0.363																																					p.I578M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1734G	8						.						86.0	78.0	81.0					8																	125499624		2203	4300	6503	125568805	SO:0001628	intergenic_variant	11236	exon2			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499624T>G			125568805	NM_007218	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329064	0.41197	.	.	ENSG00000170881	ENST00000303545	T	0.42131	0.98	5.64	2.05	0.26809	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	0.42539	0.1207	L	0.28054	0.825	0.54753	D	0.999982	D	0.76494	0.999	D	0.76071	0.987	T	0.28170	-1.0052	10	0.38643	T	0.18	-14.8572	4.5027	0.11872	0.1326:0.2137:0.0:0.6537	.	578	Q8WU17	RN139_HUMAN	M	578	ENSP00000304051:I578M	ENSP00000304051:I578M	I	+	3	3	RNF139	125568805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.979000	0.29500	0.518000	0.28383	0.459000	0.35465	ATT		0.363	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	
ZNF572	137209	broad.mit.edu	37	8	125989569	125989569	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:125989569G>T	ENST00000319286.5	+	3	1213	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	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.E353D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACACAGGAGAGAAATCCTATG	0.373										HNSCC(60;0.17)																											p.E353D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1059T	8						.						72.0	72.0	72.0					8																	125989569		2203	4300	6503	126058750	SO:0001583	missense	137209	exon3			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1059G>T	8.37:g.125989569G>T	ENSP00000319305:p.Glu353Asp		126058750	NM_152412	A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444229	0.25987	.	.	ENSG00000180938	ENST00000319286	T	0.34472	1.36	5.09	-3.21	0.05140	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.405273	0.20847	N	0.084583	T	0.30665	0.0772	M	0.75777	2.31	0.22693	N	0.998843	B	0.16603	0.018	B	0.15052	0.012	T	0.23691	-1.0181	10	0.59425	D	0.04	-0.671	5.4732	0.16682	0.4227:0.2459:0.3314:0.0	.	353	Q7Z3I7	ZN572_HUMAN	D	353	ENSP00000319305:E353D	ENSP00000319305:E353D	E	+	3	2	ZNF572	126058750	0.942000	0.31987	0.000000	0.03702	0.748000	0.42578	0.316000	0.19469	-0.924000	0.03780	-0.176000	0.13171	GAG		0.373	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412	
LONRF1	91694	broad.mit.edu	37	8	12583292	12583292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:12583292G>A	ENST00000398246.3	-	11	2176	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*	MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000525024.1_Nonsense_Mutation_p.R129*|LONRF1_ENST00000533751.1_Nonsense_Mutation_p.R346*	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	703	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.R703*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		ATTTGGCTTCGAAATCTGTCT	0.398																																					p.R703X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2107T	8						.						99.0	95.0	96.0					8																	12583292		1825	4087	5912	12627663	SO:0001587	stop_gained	91694	exon11			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2107C>T	8.37:g.12583292G>A	ENSP00000381298:p.Arg703*		12627663	NM_152271	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Nonsense_Mutation	SNP	ENST00000398246.3	37	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	G	38	6.910989	0.97928	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	.	.	.	5.45	5.45	0.79879	.	0.056062	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-9.6869	20.1745	0.98175	0.0:0.0:1.0:0.0	.	.	.	.	X	703;129;346;306	.	ENSP00000381298:R703X	R	-	1	2	LONRF1	12627663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.097000	0.71452	2.941000	0.99782	0.655000	0.94253	CGA		0.398	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271	
DLC1	10395	broad.mit.edu	37	8	12957935	12957935	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:12957935G>A	ENST00000276297.4	-	9	2320	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	DLC1_ENST00000358919.2_Silent_p.F200F|DLC1_ENST00000520226.1_Silent_p.F126F|DLC1_ENST00000512044.2_Silent_p.F234F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	637					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.F637F(1)		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						GCAGGCTGCCGAAAGAGTCGT	0.597																																					p.F637F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1911T	8						.						80.0	79.0	79.0					8																	12957935		2203	4300	6503	13002306	SO:0001819	synonymous_variant	10395	exon9			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.1911C>T	8.37:g.12957935G>A			13002306	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.597	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
ZNF572	137209	broad.mit.edu	37	8	125989806	125989806	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:125989806G>A	ENST00000319286.5	+	3	1450	c.1296G>A	c.(1294-1296)agG>agA	p.R432R		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	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)	p.R432R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCACCAAAGGACACATACAG	0.438										HNSCC(60;0.17)																											p.R432R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1296A	8						.						84.0	85.0	84.0					8																	125989806		2203	4300	6503	126058987	SO:0001819	synonymous_variant	137209	exon3			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1296G>A	8.37:g.125989806G>A			126058987	NM_152412	A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	CCDS6354.1																																																																																				0.438	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412	
FAM49B	51571	broad.mit.edu	37	8	130883632	130883632	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:130883632C>T	ENST00000519824.2	-	4	457	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	FAM49B_ENST00000519110.1_Missense_Mutation_p.E62K|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000517654.1_Missense_Mutation_p.E62K|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000401979.2_Missense_Mutation_p.E62K|FAM49B_ENST00000523509.1_Missense_Mutation_p.E62K|FAM49B_ENST00000519540.1_Missense_Mutation_p.E62K|FAM49B_ENST00000522746.1_Missense_Mutation_p.E62K|SNORA25_ENST00000363205.1_RNA	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	62						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.E62K(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)			TCTCGTATTTCGTGGCCAGCT	0.378																																					p.E62K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G184A	8						.						110.0	106.0	108.0					8																	130883632		2203	4300	6503	130952814	SO:0001583	missense	51571	exon7			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.184G>A	8.37:g.130883632C>T	ENSP00000429150:p.Glu62Lys		130952814	NM_016623	Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	ENST00000519824.2	37	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764330	0.89932	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254;ENST00000519020;ENST00000518167;ENST00000517672	T;T;T;T;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;0.85;0.85;0.85;0.85	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.84846	2.72	0.80722	D	1	B	0.33044	0.395	B	0.40009	0.316	T	0.61992	-0.6948	10	0.41790	T	0.15	-18.5272	19.0946	0.93244	0.0:1.0:0.0:0.0	.	62	Q9NUQ9	FA49B_HUMAN	K	62	ENSP00000428117:E62K;ENSP00000429802:E62K;ENSP00000384880:E62K;ENSP00000429078:E62K;ENSP00000429150:E62K;ENSP00000430674:E62K;ENSP00000429499:E62K;ENSP00000430806:E62K;ENSP00000429051:E62K;ENSP00000430694:E62K;ENSP00000429074:E62K;ENSP00000430127:E62K;ENSP00000429659:E62K;ENSP00000427994:E62K;ENSP00000430434:E62K	ENSP00000384880:E62K	E	-	1	0	FAM49B	130952814	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.745000	0.94114	0.650000	0.86243	GAA		0.378	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623	
ADCY8	114	broad.mit.edu	37	8	131916126	131916126	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:131916126G>A	ENST00000286355.5	-	7	3895	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	ADCY8_ENST00000377928.3_Silent_p.I601I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	601					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)			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)			ACTCCTTGACGATATCTTCAG	0.483										HNSCC(32;0.087)																											p.I601I												.	.	0			c.C1803T	8						.						114.0	101.0	106.0					8																	131916126		2203	4300	6503	131985308	SO:0001819	synonymous_variant	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.1803C>T	8.37:g.131916126G>A			131985308	NM_001115		Silent	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																				0.483	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
DLC1	10395	broad.mit.edu	37	8	13357424	13357424	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:13357424C>A	ENST00000276297.4	-	2	566	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	DLC1_ENST00000316609.5_Missense_Mutation_p.D53Y|DLC1_ENST00000511869.1_Missense_Mutation_p.D53Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	53					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.D53Y(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						TCTTTGCGGTCCACATTTAGA	0.448																																					p.D53Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G157T	8						.						237.0	246.0	243.0					8																	13357424		2203	4300	6503	13401795	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.157G>T	8.37:g.13357424C>A	ENSP00000276297:p.Asp53Tyr		13401795	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371733	0.61624	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.36878	1.23;1.23;1.23	5.53	5.53	0.82687	.	0.154461	0.30455	N	0.009591	T	0.58090	0.2098	L	0.54323	1.7	0.43977	D	0.996665	D;D;D	0.89917	1.0;1.0;0.976	D;D;P	0.73380	0.961;0.98;0.72	T	0.57711	-0.7764	10	0.72032	D	0.01	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	53;53;53	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	Y	53	ENSP00000276297:D53Y;ENSP00000321034:D53Y;ENSP00000425878:D53Y	ENSP00000276297:D53Y	D	-	1	0	DLC1	13401795	0.999000	0.42202	1.000000	0.80357	0.417000	0.31264	4.083000	0.57643	2.777000	0.95525	0.655000	0.94253	GAC		0.448	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
PHF20L1	51105	broad.mit.edu	37	8	133855005	133855005	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:133855005A>G	ENST00000395386.2	+	19	2932	c.2633A>G	c.(2632-2634)gAc>gGc	p.D878G	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.D265G|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.D853G	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	878							zinc ion binding (GO:0008270)	p.D852G(1)		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)			TCTCTCGCAGACCCTGGGAGC	0.398																																					p.D878G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2633G	8						.						95.0	90.0	92.0					8																	133855005		1871	4119	5990	133924187	SO:0001583	missense	51105	exon19			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.2633A>G	8.37:g.133855005A>G	ENSP00000378784:p.Asp878Gly		133924187	NM_016018	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	8.955	0.969175	0.18659	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.32515	1.46;1.45	5.41	5.41	0.78517	.	1.466350	0.05181	U	0.501388	T	0.26448	0.0646	L	0.27053	0.805	0.33658	D	0.60933	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.14309	-1.0477	10	0.46703	T	0.11	-19.1315	9.1736	0.37098	0.9193:0.0:0.0807:0.0	.	853;878	F8W9L8;A8MW92	.;P20L1_HUMAN	G	878;265;853	ENSP00000378784:D878G;ENSP00000378788:D853G	ENSP00000220847:D265G	D	+	2	0	PHF20L1	133924187	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	3.711000	0.54868	2.054000	0.61138	0.528000	0.53228	GAC		0.398	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
TG	7038	broad.mit.edu	37	8	133980076	133980076	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:133980076G>A	ENST00000220616.4	+	31	5764	c.5724G>A	c.(5722-5724)gaG>gaA	p.E1908E	TG_ENST00000542445.1_Silent_p.E278E|TG_ENST00000377869.1_Silent_p.E1851E|TG_ENST00000519543.1_Silent_p.E62E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1908					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.E1908E(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)		AGCTCGCAGAGATAACAGAGA	0.498																																					p.E1908E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5724A	8						.						83.0	66.0	72.0					8																	133980076		2203	4300	6503	134049258	SO:0001819	synonymous_variant	7038	exon31			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.5724G>A	8.37:g.133980076G>A			134049258	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.014|0.014	-1.571920|-1.571920	0.00895|0.00895	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000518058	.|.	.|.	.|.	5.87|5.87	0.802|0.802	0.18686|0.18686	.|.	.|.	.|.	.|.	.|.	T|T	0.24470|0.24470	0.0593|0.0593	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24657|0.24657	-1.0154|-1.0154	4|4	.|.	.|.	.|.	.|.	4.5777|4.5777	0.12241|0.12241	0.1434:0.2262:0.5202:0.1102|0.1434:0.2262:0.5202:0.1102	.|.	.|.	.|.	.|.	N|K	364|40	.|.	.|.	D|R	+|+	1|2	0|0	TG|TG	134049258|134049258	0.111000|0.111000	0.22076|0.22076	0.038000|0.038000	0.18304|0.18304	0.021000|0.021000	0.10359|0.10359	0.030000|0.030000	0.13688|0.13688	-0.039000|-0.039000	0.13602|0.13602	-0.797000|-0.797000	0.03246|0.03246	GAT|AGA		0.498	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
KHDRBS3	10656	broad.mit.edu	37	8	136569778	136569778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:136569778C>T	ENST00000355849.5	+	5	969	c.559C>T	c.(559-561)Cga>Tga	p.R187*	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	187					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R187*(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TCCAGTGGTTCGAGGGAAACC	0.428																																					p.R187X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C559T	8						.						130.0	119.0	122.0					8																	136569778		2203	4300	6503	136638960	SO:0001587	stop_gained	10656	exon5			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.559C>T	8.37:g.136569778C>T	ENSP00000348108:p.Arg187*		136638960	NM_006558	Q6NUL8|Q9UPA8	Nonsense_Mutation	SNP	ENST00000355849.5	37	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	C	37	6.047227	0.97236	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	.	.	.	5.75	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5938	14.3441	0.66649	0.2701:0.7299:0.0:0.0	.	.	.	.	X	187;159;160	.	ENSP00000348108:R187X	R	+	1	2	KHDRBS3	136638960	1.000000	0.71417	0.973000	0.42090	0.998000	0.95712	3.742000	0.55097	0.747000	0.32809	0.655000	0.94253	CGA		0.428	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1		
COL22A1	169044	broad.mit.edu	37	8	139727975	139727975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:139727975C>A	ENST00000303045.6	-	30	2913	c.2467G>T	c.(2467-2469)Gaa>Taa	p.E823*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E823*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	823	Collagen-like 6.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E823*(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)			TCACCTTTTTCTCCCTATAAT	0.388										HNSCC(7;0.00092)																											p.E823X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2467T	8						.						69.0	74.0	73.0					8																	139727975		2203	4300	6503	139797157	SO:0001587	stop_gained	169044	exon30			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.2467G>T	8.37:g.139727975C>A	ENSP00000303153:p.Glu823*		139797157	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	45	11.513466	0.99570	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.74	2.71	0.32032	.	0.437297	0.19232	N	0.119397	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.6127	0.28139	0.1749:0.4849:0.3401:0.0	.	.	.	.	X	823;823;536	.	ENSP00000303153:E823X	E	-	1	0	COL22A1	139797157	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.549000	0.36212	1.259000	0.44117	0.561000	0.74099	GAA		0.388	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL22A1	169044	broad.mit.edu	37	8	139845376	139845376	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:139845376A>C	ENST00000303045.6	-	5	1197	c.751T>G	c.(751-753)Ttg>Gtg	p.L251V	COL22A1_ENST00000435777.1_Missense_Mutation_p.L251V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	251	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.L251V(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)			ACACTGAACAAATCCATCAGG	0.453										HNSCC(7;0.00092)																											p.L251V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T751G	8						.						108.0	91.0	97.0					8																	139845376		2203	4300	6503	139914558	SO:0001583	missense	169044	exon5			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.751T>G	8.37:g.139845376A>C	ENSP00000303153:p.Leu251Val		139914558	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292404	0.23564	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.20738	2.05;2.05	5.05	-1.43	0.08884	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.379285	0.18789	N	0.131112	T	0.14485	0.0350	L	0.44542	1.39	0.22873	N	0.998624	B	0.27559	0.181	B	0.24155	0.051	T	0.22382	-1.0218	9	.	.	.	.	9.5983	0.39587	0.5687:0.0:0.4313:0.0	.	251	Q8NFW1	COMA1_HUMAN	V	251	ENSP00000303153:L251V;ENSP00000387655:L251V	.	L	-	1	2	COL22A1	139914558	0.004000	0.15560	0.973000	0.42090	0.998000	0.95712	1.130000	0.31393	-0.171000	0.10797	0.529000	0.55759	TTG		0.453	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
PTK2	5747	broad.mit.edu	37	8	141712772	141712772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:141712772G>A	ENST00000522684.1	-	25	2493	c.2264C>T	c.(2263-2265)gCc>gTc	p.A755V	PTK2_ENST00000535192.1_Intron|PTK2_ENST00000430260.2_Missense_Mutation_p.A65V|PTK2_ENST00000395218.2_Missense_Mutation_p.A755V|PTK2_ENST00000517887.1_Missense_Mutation_p.A799V|PTK2_ENST00000521059.1_Missense_Mutation_p.A755V|PTK2_ENST00000519465.1_Missense_Mutation_p.A383V|PTK2_ENST00000340930.3_Missense_Mutation_p.A755V|PTK2_ENST00000538769.1_Missense_Mutation_p.A423V|PTK2_ENST00000519419.1_Missense_Mutation_p.A799V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	755	Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCCAGCCATGGCTGTGATTCC	0.473																																					p.A755V												.	.	0			c.C2264T	8						.						99.0	87.0	91.0					8																	141712772		2203	4300	6503	141781954	SO:0001583	missense	5747	exon25			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2264C>T	8.37:g.141712772G>A	ENSP00000429911:p.Ala755Val		141781954	NM_001199649	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433585	0.62955	.	.	ENSG00000169398	ENST00000522684;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986;ENST00000522424;ENST00000521562;ENST00000523388	T;T;T;T;T;T;T;T;T;T;T	0.76448	-1.0;-1.0;-1.0;-1.0;-0.99;-0.99;-1.02;-0.99;-1.0;1.43;-1.01	5.47	4.6	0.57074	.	0.154764	0.64402	D	0.000020	T	0.59348	0.2187	N	0.08118	0	0.40954	D	0.984563	B;B;B;B;B;B;B;B;B	0.28713	0.22;0.05;0.22;0.026;0.026;0.134;0.083;0.007;0.112	B;B;B;B;B;B;B;B;B	0.31290	0.046;0.046;0.069;0.01;0.014;0.064;0.127;0.019;0.042	T	0.56691	-0.7937	10	0.13470	T	0.59	.	14.3335	0.66574	0.0726:0.0:0.9274:0.0	.	755;450;675;755;777;707;603;423;383	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.;.;.;FAK1_HUMAN;.;.;.;.;.	V	755;383;799;755;707;755;676;450;427;755;423;799;65;453;65;65;65	ENSP00000429911:A755V;ENSP00000429170:A383V;ENSP00000429082:A799V;ENSP00000429474:A755V;ENSP00000378644:A755V;ENSP00000428492:A427V;ENSP00000341189:A755V;ENSP00000445742:A423V;ENSP00000429129:A799V;ENSP00000403416:A65V;ENSP00000430603:A453V	ENSP00000341189:A755V	A	-	2	0	PTK2	141781954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.709000	0.61867	1.450000	0.47717	0.561000	0.74099	GCC		0.473	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	
MROH5	389690	broad.mit.edu	37	8	142476661	142476661	+	RNA	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:142476661A>C	ENST00000430863.1	-	0	2405					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCATGCTGGAAACCTGTGCAG	0.662																																					p.V775V												.	.	0			c.T2325G	8						.						47.0	57.0	53.0					8																	142476661		2079	4199	6278	142545843			389690	exon19					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142476661A>C			142545843	NM_207414		Silent	SNP	ENST00000430863.1	37																																																																																					0.662	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
SGCZ	137868	broad.mit.edu	37	8	14412331	14412331	+	Silent	SNP	G	G	A	rs568419654		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:14412331G>A	ENST00000382080.1	-	2	859	c.144C>T	c.(142-144)tgC>tgT	p.C48C	SGCZ_ENST00000421524.2_Silent_p.C35C	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	35					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.C48C(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AGAAGTATAAGCACCTCTTTC	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		14112	0.0		0.0	False		,,,				2504	0.001				p.C48C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C144T	8						.						231.0	216.0	221.0					8																	14412331		2203	4300	6503	14456702	SO:0001819	synonymous_variant	137868	exon2			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.144C>T	8.37:g.14412331G>A			14456702	NM_139167	Q6REU0	Silent	SNP	ENST00000382080.1	37	CCDS5992.2																																																																																				0.398	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
CYP11B2	1585	broad.mit.edu	37	8	143994858	143994858	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:143994858G>T	ENST00000323110.2	-	6	966	c.964C>A	c.(964-966)Ccc>Acc	p.P322T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	322					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.P322T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	ATCAGCAAGGGAAACGCTGTC	0.632									Familial Hyperaldosteronism type I																												p.P322T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C964A	8						.						73.0	68.0	69.0					8																	143994858		2203	4300	6503	143991860	SO:0001583	missense	1585	exon6	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.964C>A	8.37:g.143994858G>T	ENSP00000325822:p.Pro322Thr		143991860	NM_000498	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	9.269	1.045067	0.19748	.	.	ENSG00000179142	ENST00000323110	T	0.58210	0.35	3.88	0.719	0.18208	.	0.571285	0.15782	N	0.244900	T	0.28962	0.0719	N	0.13140	0.3	0.36943	D	0.892486	B	0.15141	0.012	B	0.21546	0.035	T	0.33033	-0.9884	10	0.02654	T	1	.	10.4315	0.44411	0.0:0.0:0.4629:0.5371	.	322	P19099	C11B2_HUMAN	T	322	ENSP00000325822:P322T	ENSP00000325822:P322T	P	-	1	0	CYP11B2	143991860	0.755000	0.28372	0.289000	0.24876	0.158000	0.22134	0.790000	0.26900	-0.067000	0.12976	0.558000	0.71614	CCC		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
ZNF623	9831	broad.mit.edu	37	8	144733632	144733632	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:144733632G>A	ENST00000501748.2	+	1	1679	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G	ZNF623_ENST00000526926.1_Silent_p.G490G|ZNF623_ENST00000458270.2_Silent_p.G490G	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	530					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.G530G(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)			TAGATAAGGGGGAACACACAG	0.413																																					p.G530G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1590A	8						.						65.0	68.0	67.0					8																	144733632		2203	4300	6503	144804775	SO:0001819	synonymous_variant	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.1590G>A	8.37:g.144733632G>A			144804775	NM_014789	A4FU80|B4DGP3|E7ENV5	Silent	SNP	ENST00000501748.2	37	CCDS34957.1																																																																																				0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	
CYC1	1537	broad.mit.edu	37	8	145151302	145151302	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:145151302C>T	ENST00000318911.4	+	4	589	c.516C>T	c.(514-516)ttC>ttT	p.F172F		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	172	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAAGCTGTTCGACTATTTCC	0.562											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F172F												.	.	0			c.C516T	8						.						146.0	139.0	142.0					8																	145151302		2203	4300	6503	145223290	SO:0001819	synonymous_variant	1537	exon4			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.516C>T	8.37:g.145151302C>T		1692	145223290	NM_001916	Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	CCDS6415.1																																																																																				0.562	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916	
ARHGAP39	80728	broad.mit.edu	37	8	145771056	145771056	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:145771056T>C	ENST00000276826.5	-	5	2299	c.2098A>G	c.(2098-2100)Aag>Gag	p.K700E	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.K700E|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.K700E|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	700					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTGAAGTGCTTGGAGGCCCAG	0.632																																					p.K700E												.	.	0			c.A2098G	8						.						64.0	58.0	60.0					8																	145771056		2203	4300	6503	145741864	SO:0001583	missense	80728	exon7				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2098A>G	8.37:g.145771056T>C	ENSP00000276826:p.Lys700Glu		145741864	NM_025251	B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37		.	.	.	.	.	.	.	.	.	.	T	15.71	2.913313	0.52439	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.70516	-0.49;-0.22;-0.49	5.22	4.08	0.47627	.	0.052549	0.64402	N	0.000001	T	0.54208	0.1844	L	0.31664	0.95	0.45791	D	0.998678	B;B	0.14012	0.003;0.009	B;B	0.16722	0.004;0.016	T	0.40757	-0.9546	10	0.15952	T	0.53	-9.1216	8.8259	0.35054	0.0:0.0897:0.0:0.9103	.	700;700	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	E	700	ENSP00000276826:K700E;ENSP00000366522:K700E;ENSP00000445075:K700E	ENSP00000276826:K700E	K	-	1	0	ARHGAP39	145741864	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.129000	0.71657	0.839000	0.34971	0.528000	0.53228	AAG		0.632	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1		
ZNF7	7553	broad.mit.edu	37	8	146067301	146067301	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:146067301G>T	ENST00000528372.1	+	5	1049	c.809G>T	c.(808-810)aGa>aTa	p.R270I	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.R174I|ZNF7_ENST00000446747.2_Missense_Mutation_p.R281I|ZNF7_ENST00000325241.6_Missense_Mutation_p.R270I|ZNF7_ENST00000529819.1_3'UTR			P17097	ZNF7_HUMAN	zinc finger protein 7	270					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.R270I(1)		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)		CAGCATCAGAGAATCCACACG	0.483																																					p.R270I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809T	8						.						78.0	82.0	80.0					8																	146067301		2203	4300	6503	146038105	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.809G>T	8.37:g.146067301G>T	ENSP00000432724:p.Arg270Ile		146038105	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980659	0.34942	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.98	4.09	0.47781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000135	T	0.47911	0.1471	M	0.70787	2.145	0.23930	N	0.99643	D;D	0.71674	0.998;0.998	D;D	0.67103	0.949;0.917	T	0.42447	-0.9451	10	0.87932	D	0	-32.1971	13.7328	0.62799	0.0:0.0:0.8446:0.1554	.	281;270	B4DT08;P17097	.;ZNF7_HUMAN	I	270;281;174;270	ENSP00000320627:R270I;ENSP00000393260:R281I;ENSP00000439424:R174I;ENSP00000432724:R270I	ENSP00000320627:R270I	R	+	2	0	ZNF7	146038105	0.000000	0.05858	0.964000	0.40570	0.166000	0.22503	-0.026000	0.12392	1.313000	0.45069	0.555000	0.69702	AGA		0.483	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
ZNF16	7564	broad.mit.edu	37	8	146157860	146157860	+	Missense_Mutation	SNP	C	C	T	rs3735784	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:146157860C>T	ENST00000276816.4	-	4	499	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E105K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	105	Necessary for transcription activation.		E -> K (in dbSNP:rs3735784).		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.E105K(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)		TCTCCAAGCTCGGGTACCTGG	0.498													c|||	23	0.00459265	0.0159	0.0	5008	,	,		19576	0.002		0.0	False		,,,				2504	0.0				p.E105K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	8						.	T	LYS/GLU,LYS/GLU	46,4360	48.2+/-83.0	0,46,2157	105.0	103.0	104.0		313,313	-0.0	0.0	8	dbSNP_107	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZNF16	NM_001029976.2,NM_006958.2	56,56	0,47,6456	TT,TC,CC		0.0116,1.044,0.3614	benign,benign	105/683,105/683	146157860	47,12959	2203	4300	6503	146128664	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.313G>A	8.37:g.146157860C>T	ENSP00000276816:p.Glu105Lys		146128664	NM_006958	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	9	0.004120879120879121	7	0.014227642276422764	0	0.0	2	0.0034965034965034965	0	0.0	c	9.209	1.030331	0.19512	0.01044	1.16E-4	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.52526	3.02;3.02;4.61;0.66	4.17	-0.0447	0.13854	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.17715	-1.0360	9	0.19147	T	0.46	.	3.1038	0.06335	0.2957:0.4018:0.0:0.3025	rs3735784;rs3735784	105	P17020	ZNF16_HUMAN	K	105	ENSP00000276816:E105K;ENSP00000378369:E105K;ENSP00000434321:E105K;ENSP00000432755:E105K	ENSP00000276816:E105K	E	-	1	0	ZNF16	146128664	0.000000	0.05858	0.021000	0.16686	0.050000	0.14768	-0.363000	0.07593	0.071000	0.16664	-0.213000	0.12676	GAG		0.498	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958	
CSMD1	64478	broad.mit.edu	37	8	3019744	3019744	+	Silent	SNP	G	G	A	rs35444669	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:3019744G>A	ENST00000520002.1	-	39	6339	c.5784C>T	c.(5782-5784)atC>atT	p.I1928I	CSMD1_ENST00000537824.1_Silent_p.I1927I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.I1928I|CSMD1_ENST00000400186.3_Silent_p.I1928I|CSMD1_ENST00000542608.1_Silent_p.I1927I|CSMD1_ENST00000539096.1_Silent_p.I1927I|CSMD1_ENST00000602557.1_Silent_p.I1928I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1928	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.I1656I(1)|p.I1927I(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)		ACCGATCTCCGATTTTGATGC	0.478																																					p.R1928W												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5782T	8						.						93.0	96.0	95.0					8																	3019744		1964	4154	6118	3007151	SO:0001819	synonymous_variant	64478	exon38					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.5784C>T	8.37:g.3019744G>A			3007151	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	0.097	-1.157940	0.01686	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58555	-0.7616	4	.	.	.	.	3.4477	0.07486	0.3257:0.1461:0.4083:0.1199	.	.	.	.	W	1408	.	.	R	-	1	2	CSMD1	3007151	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-6.583000	0.00060	-4.915000	0.00027	-2.162000	0.00326	CGG		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3047634	3047634	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:3047634A>C	ENST00000520002.1	-	35	5756	c.5201T>G	c.(5200-5202)gTt>gGt	p.V1734G	CSMD1_ENST00000537824.1_Missense_Mutation_p.V1733G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.V1734G|CSMD1_ENST00000400186.3_Missense_Mutation_p.V1734G|CSMD1_ENST00000542608.1_Missense_Mutation_p.V1733G|CSMD1_ENST00000539096.1_Missense_Mutation_p.V1733G|CSMD1_ENST00000602557.1_Missense_Mutation_p.V1734G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1734	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.V1733G(1)|p.V1462G(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)		GGTACGAGGAACAGCTAGAAG	0.537																																					p.C1733W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5199G	8						.						48.0	53.0	52.0					8																	3047634		2041	4195	6236	3035041	SO:0001583	missense	64478	exon34					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.5201T>G	8.37:g.3047634A>C	ENSP00000430733:p.Val1734Gly		3035041	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.50|14.50	2.555381|2.555381	0.45487|0.45487	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.61627	.|0.09;0.09;0.09;0.09;0.09	5.34|5.34	4.17|4.17	0.49024|0.49024	.|CUB (4);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.78149|0.78149	0.4238|0.4238	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.995;0.997;0.997	.|D;D;D	.|0.80764	.|0.984;0.994;0.979	T|T	0.79215|0.79215	-0.1895|-0.1895	5|10	.|0.35671	.|T	.|0.21	.|.	12.7093|12.7093	0.57080|0.57080	0.8623:0.1377:0.0:0.0|0.8623:0.1377:0.0:0.0	.|.	.|1734;1734;1734	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	W|G	1213|1734;1734;1596;1733;1733;1733	.|ENSP00000383047:V1734G;ENSP00000430733:V1734G;ENSP00000441462:V1733G;ENSP00000446243:V1733G;ENSP00000441675:V1733G	.|ENSP00000320445:V1596G	C|V	-|-	3|2	2|0	CSMD1|CSMD1	3035041|3035041	1.000000|1.000000	0.71417|0.71417	0.185000|0.185000	0.23176|0.23176	0.044000|0.044000	0.14063|0.14063	7.224000|7.224000	0.78042|0.78042	0.941000|0.941000	0.37499|0.37499	0.445000|0.445000	0.29226|0.29226	TGT|GTT		0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3072148	3072148	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:3072148A>C	ENST00000520002.1	-	31	5296	c.4741T>G	c.(4741-4743)Ttc>Gtc	p.F1581V	CSMD1_ENST00000537824.1_Missense_Mutation_p.F1580V|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1581V|CSMD1_ENST00000400186.3_Missense_Mutation_p.F1581V|CSMD1_ENST00000542608.1_Missense_Mutation_p.F1580V|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1580V|CSMD1_ENST00000602557.1_Missense_Mutation_p.F1581V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1581	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.F1580V(1)|p.F1309V(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)		CCAAGCTTGAAGTCTGTTCCA	0.468																																					p.L1580R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4739G	8						.						91.0	90.0	90.0					8																	3072148		2018	4167	6185	3059555	SO:0001583	missense	64478	exon30					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.4741T>G	8.37:g.3072148A>C	ENSP00000430733:p.Phe1581Val		3059555	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.33|13.33	2.205343|2.205343	0.39003|0.39003	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.69306|.	-0.39;-0.39;-0.39;-0.39;-0.39|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Complement control module (2);Sushi/SCR/CCP (3);|.	0.079946|.	0.52532|.	D|.	0.000069|.	T|T	0.65831|0.65831	0.2729|0.2729	M|M	0.67700|0.67700	2.07|2.07	0.44711|0.44711	D|D	0.997705|0.997705	D;B;B|.	0.63046|.	0.992;0.071;0.064|.	D;B;B|.	0.75020|.	0.985;0.103;0.209|.	T|T	0.65944|0.65944	-0.6045|-0.6045	10|5	0.49607|.	T|.	0.09|.	.|.	10.8132|10.8132	0.46559|0.46559	0.9263:0.0:0.0737:0.0|0.9263:0.0:0.0737:0.0	.|.	1581;1581;1581|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	V|R	1581;1581;1443;1580;1580;1580|1060	ENSP00000383047:F1581V;ENSP00000430733:F1581V;ENSP00000441462:F1580V;ENSP00000446243:F1580V;ENSP00000441675:F1580V|.	ENSP00000320445:F1443V|.	F|L	-|-	1|2	0|0	CSMD1|CSMD1	3059555|3059555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.807000|0.807000	0.45602|0.45602	4.948000|4.948000	0.63590|0.63590	2.095000|2.095000	0.63458|0.63458	0.482000|0.482000	0.46254|0.46254	TTC|CTT		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3141850	3141850	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:3141850G>A	ENST00000520002.1	-	27	4527	c.3972C>T	c.(3970-3972)ttC>ttT	p.F1324F	CSMD1_ENST00000537824.1_Silent_p.F1323F|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.F1324F|CSMD1_ENST00000400186.3_Silent_p.F1324F|CSMD1_ENST00000542608.1_Silent_p.F1323F|CSMD1_ENST00000539096.1_Silent_p.F1323F|CSMD1_ENST00000602557.1_Silent_p.F1324F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1324	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.F1052F(1)|p.F1323F(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)		TCTCCGTGTCGAAAACAATGA	0.552											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1324X												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3970T	8						.						75.0	78.0	77.0					8																	3141850		2112	4227	6339	3129257	SO:0001819	synonymous_variant	64478	exon26					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.3972C>T	8.37:g.3141850G>A		608	3129257	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	7.615	0.675715	0.14841	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.12	-8.22	0.01037	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.689	0.56964	0.5819:0.0:0.4181:0.0	.	.	.	.	X	804	.	.	R	-	1	2	CSMD1	3129257	1.000000	0.71417	0.542000	0.28115	0.649000	0.38597	1.478000	0.35442	-1.529000	0.01754	-1.008000	0.02478	CGA		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3205650	3205650	+	Missense_Mutation	SNP	C	C	A	rs369837551		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:3205650C>A	ENST00000520002.1	-	23	3896	c.3341G>T	c.(3340-3342)gGa>gTa	p.G1114V	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1113V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1114V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1114V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1113V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1113V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1114V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1114	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G842V(1)|p.G1113V(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)		CAGTAATGTTCCTTCATTTCC	0.353																																					p.R1113S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3339T	8						.						84.0	77.0	79.0					8																	3205650		1834	4081	5915	3193057	SO:0001583	missense	64478	exon22					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.3341G>T	8.37:g.3205650C>A	ENSP00000430733:p.Gly1114Val		3193057	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803918|4.803918	0.90623|0.90623	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.58060|.	0.36;0.36;0.36;0.36;0.36|.	5.64|5.64	5.64|5.64	0.86602|0.86602	CUB (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.88444|0.88444	0.6438|0.6438	H|H	0.96239|0.96239	3.79|3.79	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.91620|0.91620	0.5310|0.5310	10|5	0.87932|.	D|.	0|.	.|.	19.7076|19.7076	0.96081|0.96081	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1114;1114;1114|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	V|S	1114;1114;976;1113;1113;1113|593	ENSP00000383047:G1114V;ENSP00000430733:G1114V;ENSP00000441462:G1113V;ENSP00000446243:G1113V;ENSP00000441675:G1113V|.	ENSP00000320445:G976V|.	G|R	-|-	2|3	0|2	CSMD1|CSMD1	3193057|3193057	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.635000|7.635000	0.83286|0.83286	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.353	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3256976	3256976	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:3256976G>T	ENST00000520002.1	-	17	2900	c.2345C>A	c.(2344-2346)tCt>tAt	p.S782Y	CSMD1_ENST00000537824.1_Missense_Mutation_p.S781Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.S782Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.S782Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.S781Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.S781Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.S782Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	782	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.S781Y(2)|p.S510Y(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATGTAAAGAATCCTTATA	0.393																																					p.F781L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C2343A	8						.						95.0	93.0	94.0					8																	3256976		1867	4097	5964	3244383	SO:0001583	missense	64478	exon16					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.2345C>A	8.37:g.3256976G>T	ENSP00000430733:p.Ser782Tyr		3244383	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.613021|4.613021	0.87258|0.87258	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.60672	.|0.17;0.17;0.17;0.17;0.17	5.35|5.35	5.35|5.35	0.76521|0.76521	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74275|0.74275	0.3695|0.3695	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.905;0.999	.|P;D	.|0.79108	.|0.863;0.992	T|T	0.71741|0.71741	-0.4501|-0.4501	5|10	.|0.38643	.|T	.|0.18	.|.	19.4376|19.4376	0.94804|0.94804	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|782;782	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	L|Y	261|782;782;644;781;781;781	.|ENSP00000383047:S782Y;ENSP00000430733:S782Y;ENSP00000441462:S781Y;ENSP00000446243:S781Y;ENSP00000441675:S781Y	.|ENSP00000320445:S644Y	F|S	-|-	3|2	2|0	CSMD1|CSMD1	3244383|3244383	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.884000|0.884000	0.51177|0.51177	9.576000|9.576000	0.98192|0.98192	2.660000|2.660000	0.90430|0.90430	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.393	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
MCPH1	79648	broad.mit.edu	37	8	6296542	6296542	+	Missense_Mutation	SNP	A	A	C	rs201120541	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:6296542A>C	ENST00000344683.5	+	6	581	c.505A>C	c.(505-507)Aat>Cat	p.N169H	MCPH1_ENST00000522905.1_Intron|MCPH1_ENST00000519480.1_Missense_Mutation_p.N169H	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	169					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.N169H(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AATTGAAATTAATAGTAGGCA	0.328																																					p.N169H	Colon(95;1448 1467 8277 34473 35819)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A505C	8						.						93.0	85.0	88.0					8																	6296542		1874	4101	5975	6283950	SO:0001583	missense	79648	exon6			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.505A>C	8.37:g.6296542A>C	ENSP00000342924:p.Asn169His		6283950	NM_024596	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	3.775	-0.046893	0.07407	.	.	ENSG00000147316	ENST00000344683;ENST00000519480	T;T	0.05996	3.71;3.36	4.9	-2.7	0.06004	.	1.798030	0.03090	N	0.159618	T	0.04363	0.0120	L	0.29908	0.895	0.09310	N	1	P;B	0.38420	0.63;0.167	B;B	0.29942	0.109;0.071	T	0.36841	-0.9731	10	0.30854	T	0.27	.	5.9444	0.19211	0.2244:0.0:0.1655:0.6101	.	169;169	Q8NEM0;E9PGU5	MCPH1_HUMAN;.	H	169	ENSP00000342924:N169H;ENSP00000430962:N169H	ENSP00000342924:N169H	N	+	1	0	MCPH1	6283950	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.764000	0.04735	-0.683000	0.05190	-1.054000	0.02325	AAT		0.328	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	
PPP1R3B	79660	broad.mit.edu	37	8	8998967	8998967	+	Silent	SNP	G	G	A	rs17854302		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:8998967G>A	ENST00000310455.3	-	2	345	c.195C>T	c.(193-195)ttC>ttT	p.F65F	RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.F65F	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	65					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)	p.F65F(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GGTTGTCTGCGAAGGACACCC	0.532																																					p.F65F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C195T	8						.						103.0	99.0	101.0					8																	8998967		2203	4300	6503	9036377	SO:0001819	synonymous_variant	79660	exon2			AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.195C>T	8.37:g.8998967G>A			9036377	NM_024607	B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	CCDS5973.1																																																																																				0.532	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607	
FGF20	26281	broad.mit.edu	37	8	16850782	16850782	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:16850782C>A	ENST00000180166.5	-	3	583	c.435G>T	c.(433-435)gaG>gaT	p.E145D		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	145					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)|inner ear receptor cell differentiation (GO:0060113)|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 ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.E145D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TATACCAGTTCTCTTCAAACT	0.368																																					p.E145D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	8						.						138.0	140.0	140.0					8																	16850782		2203	4300	6503	16895153	SO:0001583	missense	26281	exon3			AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.435G>T	8.37:g.16850782C>A	ENSP00000180166:p.Glu145Asp		16895153	NM_019851	B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	CCDS5998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.23|19.23	3.787492|3.787492	0.70337|0.70337	.|.	.|.	ENSG00000078579|ENSG00000078579	ENST00000180166|ENST00000519941	T|.	0.71579|.	-0.58|.	5.85|5.85	4.06|4.06	0.47325|0.47325	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.75982|.	0.3924|.	M|M	0.86097|0.86097	2.795|2.795	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.71674|.	0.998|.	D|.	0.71656|.	0.974|.	T|.	0.78349|.	-0.2238|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	10.549|10.549	0.45077|0.45077	0.0:0.7779:0.0:0.2221|0.0:0.7779:0.0:0.2221	.|.	145|.	Q9NP95|.	FGF20_HUMAN|.	D|X	145|47	ENSP00000180166:E145D|.	ENSP00000180166:E145D|ENSP00000428072:E47X	E|E	-|-	3|1	2|0	FGF20|FGF20	16895153|16895153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.219000|1.219000	0.32479|0.32479	0.941000|0.941000	0.37499|0.37499	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.368	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1		
ZDHHC2	51201	broad.mit.edu	37	8	17067515	17067515	+	Nonsense_Mutation	SNP	C	C	T	rs201971547		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17067515C>T	ENST00000262096.8	+	9	1500	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	269					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R269*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TAAAAACATGCGACAAGTTTT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		15387	0.0		0.001	False		,,,				2504	0.0				p.R269X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C805T	8						.						124.0	111.0	115.0					8																	17067515		1827	4090	5917	17111886	SO:0001587	stop_gained	51201	exon9			AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.805C>T	8.37:g.17067515C>T	ENSP00000262096:p.Arg269*		17111886	NM_016353	D3DSP5	Nonsense_Mutation	SNP	ENST00000262096.8	37	CCDS47810.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	42	9.772657	0.99260	.	.	ENSG00000104219	ENST00000262096	.	.	.	5.53	4.65	0.58169	.	0.186973	0.44285	D	0.000468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.933	7.9753	0.30151	0.4067:0.5193:0.0:0.074	.	.	.	.	X	269	.	ENSP00000262096:R269X	R	+	1	2	ZDHHC2	17111886	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.293000	0.33353	1.456000	0.47831	0.585000	0.79938	CGA		0.343	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	
MTMR7	9108	broad.mit.edu	37	8	17159766	17159766	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17159766C>T	ENST00000180173.5	-	13	1551	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	MTMR7_ENST00000521857.1_Missense_Mutation_p.R506H|MTMR7_ENST00000398099.3_Missense_Mutation_p.R97H	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	506					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.R506H(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)		CTTTTCAAAGCGGTTATACAT	0.458																																					p.R506H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1517A	8						.						123.0	111.0	115.0					8																	17159766		2203	4300	6503	17204137	SO:0001583	missense	9108	exon13			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.1517G>A	8.37:g.17159766C>T	ENSP00000180173:p.Arg506His		17204137	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867507	0.72065	.	.	ENSG00000003987	ENST00000180173;ENST00000398099;ENST00000521857	D;D;D	0.91843	-2.92;-2.92;-2.92	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.79805	2.47	0.80722	D	1	B;P	0.47302	0.206;0.893	B;B	0.38428	0.078;0.273	D	0.93226	0.6613	10	0.62326	D	0.03	.	19.9829	0.97336	0.0:1.0:0.0:0.0	.	506;506	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	H	506;97;506	ENSP00000180173:R506H;ENSP00000381171:R97H;ENSP00000429733:R506H	ENSP00000180173:R506H	R	-	2	0	MTMR7	17204137	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.285000	0.51716	2.809000	0.96659	0.467000	0.42956	CGC		0.458	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	
MTUS1	57509	broad.mit.edu	37	8	17510778	17510778	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17510778C>A	ENST00000262102.6	-	12	3525	c.3301G>T	c.(3301-3303)Gat>Tat	p.D1101Y	MTUS1_ENST00000519263.1_Missense_Mutation_p.D1047Y|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381869.3_Missense_Mutation_p.D1047Y|MTUS1_ENST00000297488.6_Missense_Mutation_p.D267Y|MTUS1_ENST00000400046.1_Missense_Mutation_p.D173Y|MTUS1_ENST00000544260.1_Missense_Mutation_p.D246Y|MTUS1_ENST00000381861.3_Missense_Mutation_p.D348Y	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1101					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D348Y(1)|p.D1101Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTCTTCAGATCATTGATTTGC	0.318																																					p.D1047Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3139T	8						.						128.0	113.0	118.0					8																	17510778		1819	4077	5896	17555058	SO:0001583	missense	57509	exon11			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3301G>T	8.37:g.17510778C>A	ENSP00000262102:p.Asp1101Tyr		17555058	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906149	0.33628	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.36157	1.27;1.27;2.2;1.27;1.27;1.27;1.27	5.39	3.53	0.40419	.	0.145154	0.64402	D	0.000010	T	0.48589	0.1508	L	0.51422	1.61	0.80722	D	1	D;D;D;P	0.58970	0.984;0.984;0.971;0.928	P;P;P;P	0.61592	0.861;0.891;0.865;0.795	T	0.46582	-0.9181	10	0.72032	D	0.01	-14.193	11.3609	0.49642	0.0:0.8038:0.1269:0.0693	.	1047;1101;348;267	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	Y	1047;246;173;267;348;1101;1047	ENSP00000371293:D1047Y;ENSP00000445738:D246Y;ENSP00000382921:D173Y;ENSP00000297488:D267Y;ENSP00000371285:D348Y;ENSP00000262102:D1101Y;ENSP00000430167:D1047Y	ENSP00000262102:D1101Y	D	-	1	0	MTUS1	17555058	0.879000	0.30193	0.399000	0.26333	0.034000	0.12701	1.704000	0.37857	0.712000	0.32039	0.591000	0.81541	GAT		0.318	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTUS1	57509	broad.mit.edu	37	8	17554810	17554810	+	Intron	SNP	C	C	T	rs369097965		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17554810C>T	ENST00000262102.6	-	7	2848				MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000297488.6_Missense_Mutation_p.R26Q|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000381861.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R26Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGAAGGAAGTCGAAGGTTTCG	0.463																																					p.R26Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G77A	8						.						172.0	177.0	175.0					8																	17554810		2026	4192	6218	17599090	SO:0001627	intron_variant	57509	exon1			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2624-12759G>A	8.37:g.17554810C>T			17599090	NM_020749	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049564	0.55218	.	.	ENSG00000129422	ENST00000297488	T	0.40476	1.03	5.05	5.05	0.67936	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.80722	D	1	P	0.47545	0.897	B	0.36885	0.235	T	0.07809	-1.0753	8	0.21014	T	0.42	.	18.9978	0.92819	0.0:1.0:0.0:0.0	.	26	Q9ULD2-3	.	Q	26	ENSP00000297488:R26Q	ENSP00000297488:R26Q	R	-	2	0	MTUS1	17599090	1.000000	0.71417	0.187000	0.23214	0.907000	0.53573	4.149000	0.58091	2.793000	0.96121	0.655000	0.94253	CGA		0.463	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTUS1	57509	broad.mit.edu	37	8	17611976	17611976	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17611976C>T	ENST00000262102.6	-	2	1565	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	MTUS1_ENST00000519263.1_Silent_p.A447A|MTUS1_ENST00000381862.3_Silent_p.A447A|MTUS1_ENST00000381869.3_Silent_p.A447A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	447					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A447A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATTTCTCCGTCGCTTCAATCG	0.433																																					p.A447A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1341A	8						.						148.0	141.0	143.0					8																	17611976		1870	4128	5998	17656256	SO:0001819	synonymous_variant	57509	exon2			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1341G>A	8.37:g.17611976C>T			17656256	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTUS1	57509	broad.mit.edu	37	8	17612669	17612669	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17612669C>T	ENST00000262102.6	-	2	872	c.648G>A	c.(646-648)acG>acA	p.T216T	MTUS1_ENST00000519263.1_Silent_p.T216T|MTUS1_ENST00000381862.3_Silent_p.T216T|MTUS1_ENST00000381869.3_Silent_p.T216T	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	216					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T216T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTCTTGCATGCGTCTTATCAG	0.438																																					p.T216T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G648A	8						.						168.0	147.0	154.0					8																	17612669		1913	4120	6033	17656949	SO:0001819	synonymous_variant	57509	exon2			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.648G>A	8.37:g.17612669C>T			17656949	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																				0.438	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
FGL1	2267	broad.mit.edu	37	8	17726195	17726195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17726195G>A	ENST00000398056.2	-	9	1456	c.641C>T	c.(640-642)tCc>tTc	p.S214F	FGL1_ENST00000398054.1_Missense_Mutation_p.S214F|FGL1_ENST00000427924.1_Missense_Mutation_p.S214F|FGL1_ENST00000518650.1_Missense_Mutation_p.S214F|FGL1_ENST00000381841.2_Missense_Mutation_p.S214F|FGL1_ENST00000381840.2_Missense_Mutation_p.S214F|FGL1_ENST00000522444.1_Missense_Mutation_p.S214F			Q08830	FGL1_HUMAN	fibrinogen-like 1	214	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.S214F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CCCCGCAAGGGAATCTCCAGC	0.443																																					p.S214F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C641T	8						.						68.0	70.0	69.0					8																	17726195		2203	4300	6503	17770475	SO:0001583	missense	2267	exon7			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.641C>T	8.37:g.17726195G>A	ENSP00000381133:p.Ser214Phe		17770475	NM_004467	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255282	0.80135	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.41	4.41	0.53225	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.357116	0.32769	N	0.005669	D	0.89501	0.6733	M	0.91249	3.19	0.58432	D	0.999997	P;P;D	0.55385	0.904;0.949;0.971	P;P;P	0.60886	0.819;0.745;0.88	D	0.92299	0.5848	10	0.87932	D	0	.	17.8888	0.88865	0.0:0.0:1.0:0.0	.	184;214;214	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	F	214;214;184;214;214;214;214;214;214	ENSP00000381133:S214F;ENSP00000429757:S214F;ENSP00000371263:S214F;ENSP00000401952:S214F;ENSP00000381131:S214F;ENSP00000371262:S214F;ENSP00000428430:S214F	ENSP00000221204:S214F	S	-	2	0	FGL1	17770475	1.000000	0.71417	0.345000	0.25642	0.776000	0.43924	7.364000	0.79526	2.391000	0.81399	0.460000	0.39030	TCC		0.443	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467	
PCM1	5108	broad.mit.edu	37	8	17796495	17796495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17796495G>T	ENST00000519253.1	+	5	840	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	PCM1_ENST00000325083.8_Nonsense_Mutation_p.E197*|PCM1_ENST00000518537.1_Nonsense_Mutation_p.E197*|PCM1_ENST00000524226.1_Nonsense_Mutation_p.E197*			Q15154	PCM1_HUMAN	pericentriolar material 1	197					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.E197*(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGGGAGGGGAGAACCTGCAAT	0.403			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.E197X			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G589T	8						.						107.0	110.0	109.0					8																	17796495		1933	4134	6067	17840775	SO:0001587	stop_gained	5108	exon5				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.589G>T	8.37:g.17796495G>T	ENSP00000431099:p.Glu197*		17840775	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	G	40	8.217958	0.98712	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	.	.	.	5.62	5.62	0.85841	.	0.144412	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-15.356	20.0425	0.97596	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000327077:E197X	E	+	1	0	PCM1	17840775	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.372000	0.66156	2.817000	0.96982	0.563000	0.77884	GAA		0.403	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PCM1	5108	broad.mit.edu	37	8	17817534	17817534	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:17817534A>C	ENST00000519253.1	+	14	2303	c.2052A>C	c.(2050-2052)gcA>gcC	p.A684A	PCM1_ENST00000325083.8_Silent_p.A684A|PCM1_ENST00000524226.1_Silent_p.A685A			Q15154	PCM1_HUMAN	pericentriolar material 1	684					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.A684A(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATGATGATGCAGCTCAAGGAG	0.363			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.A684A			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2052C	8						.						68.0	64.0	65.0					8																	17817534		1887	4118	6005	17861814	SO:0001819	synonymous_variant	5108	exon14				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2052A>C	8.37:g.17817534A>C			17861814	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37																																																																																					0.363	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
CSGALNACT1	55790	broad.mit.edu	37	8	19362992	19362992	+	Silent	SNP	G	G	A	rs575336954		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:19362992G>A	ENST00000454498.2	-	4	1367	c.354C>T	c.(352-354)gcC>gcT	p.A118A	CSGALNACT1_ENST00000544602.1_Silent_p.A118A|CSGALNACT1_ENST00000332246.6_Silent_p.A118A|CSGALNACT1_ENST00000311540.4_Silent_p.A118A|CSGALNACT1_ENST00000522854.1_Silent_p.A118A	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	118					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.A118A(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCAGGAGGTCGGCCTGGGTTT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18038	0.001		0.0	False		,,,				2504	0.0				p.A118A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	8						.						47.0	49.0	48.0					8																	19362992		2203	4300	6503	19407272	SO:0001819	synonymous_variant	55790	exon4			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.354C>T	8.37:g.19362992G>A			19407272	NM_018371	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																				0.602	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371	
GFRA2	2675	broad.mit.edu	37	8	21562556	21562556	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:21562556C>T	ENST00000524240.1	-	6	1636	c.986G>A	c.(985-987)gGg>gAg	p.G329E	GFRA2_ENST00000400782.4_Missense_Mutation_p.G224E|GFRA2_ENST00000517328.1_Missense_Mutation_p.G329E|GFRA2_ENST00000518077.1_Missense_Mutation_p.G196E	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	329					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)	p.G329E(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CTCCATGTTCCCGCTGCCACG	0.592																																					p.G196E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587A	8						.						39.0	45.0	43.0					8																	21562556		2047	4202	6249	21606836	SO:0001583	missense	2675	exon4			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.986G>A	8.37:g.21562556C>T	ENSP00000428518:p.Gly329Glu		21606836	NM_001165039	E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212563	0.79240	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.21	5.21	0.72293	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.86268	2.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.83512	0.0081	10	0.56958	D	0.05	-25.3894	15.6842	0.77396	0.0:1.0:0.0:0.0	.	196;224;329	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	E	329;224;329;196;224	ENSP00000428518:G329E;ENSP00000383592:G224E;ENSP00000429445:G329E;ENSP00000429206:G196E;ENSP00000429979:G224E	ENSP00000383592:G224E	G	-	2	0	GFRA2	21606836	1.000000	0.71417	0.621000	0.29145	0.954000	0.61252	5.279000	0.65597	2.405000	0.81733	0.655000	0.94253	GGG		0.592	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495	
BMP1	649	broad.mit.edu	37	8	22054770	22054770	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:22054770C>T	ENST00000306385.5	+	15	2614	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	BMP1_ENST00000397816.3_Silent_p.F648F|BMP1_ENST00000306349.8_Silent_p.F648F|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	648	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.F648F(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGTACGACTTCGTGGAGGTGC	0.587																																					p.F648F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1944T	8						.						138.0	127.0	131.0					8																	22054770		2203	4300	6503	22110715	SO:0001819	synonymous_variant	649	exon15				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1944C>T	8.37:g.22054770C>T			22110715	NM_006129	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	CCDS6026.1																																																																																				0.587	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
PIWIL2	55124	broad.mit.edu	37	8	22136976	22136976	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:22136976G>A	ENST00000454009.2	+	2	586	c.77G>A	c.(76-78)gGc>gAc	p.G26D	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G26D|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G26D	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	26					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.G26D(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)		CGGATGCCAGGCTGTTGGCCA	0.577																																					p.G26D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G77A	8						.						115.0	102.0	106.0					8																	22136976		2203	4300	6503	22192921	SO:0001583	missense	55124	exon2			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.77G>A	8.37:g.22136976G>A	ENSP00000406956:p.Gly26Asp		22192921	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517820	0.85495	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05717	3.43;3.4;3.43	5.93	5.93	0.95920	.	0.148584	0.44902	D	0.000401	T	0.12689	0.0308	L	0.29908	0.895	0.39786	D	0.97236	D;D	0.61080	0.989;0.989	P;P	0.58172	0.834;0.834	T	0.03706	-1.1011	10	0.38643	T	0.18	.	15.8508	0.78930	0.0:0.0:1.0:0.0	.	26;26	E7ECA4;Q8TC59	.;PIWL2_HUMAN	D	26	ENSP00000349208:G26D;ENSP00000428267:G26D;ENSP00000406956:G26D	ENSP00000349208:G26D	G	+	2	0	PIWIL2	22192921	0.995000	0.38212	0.984000	0.44739	0.967000	0.64934	2.964000	0.49192	2.808000	0.96608	0.655000	0.94253	GGC		0.577	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
SLC39A14	23516	broad.mit.edu	37	8	22275305	22275305	+	Missense_Mutation	SNP	C	C	T	rs545159712		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:22275305C>T	ENST00000381237.1	+	8	1408	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	SLC39A14_ENST00000359741.5_Missense_Mutation_p.A430V|SLC39A14_ENST00000289952.5_Missense_Mutation_p.A430V|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A430V	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	430					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)	p.A430V(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGGATTTTTGCGCTAGCTGGA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19278	0.0		0.0	False		,,,				2504	0.0				p.A430V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1289T	8						.						111.0	96.0	101.0					8																	22275305		2203	4300	6503	22331250	SO:0001583	missense	23516	exon8			D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1289C>T	8.37:g.22275305C>T	ENSP00000370635:p.Ala430Val		22331250	NM_001135153	A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	C	36	5.676550	0.96764	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	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	0.995;0.999;0.999	T	0.76578	-0.2908	10	0.72032	D	0.01	-16.9106	19.0915	0.93228	0.0:1.0:0.0:0.0	.	430;430;430	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	V	430	ENSP00000352779:A430V;ENSP00000240095:A430V;ENSP00000370635:A430V;ENSP00000289952:A430V	ENSP00000240095:A430V	A	+	2	0	SLC39A14	22331250	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	7.761000	0.85260	2.808000	0.96608	0.549000	0.68633	GCG		0.512	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677	
SORBS3	10174	broad.mit.edu	37	8	22421827	22421827	+	Missense_Mutation	SNP	T	T	C	rs75023966	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:22421827T>C	ENST00000240123.7	+	9	1090	c.707T>C	c.(706-708)gTc>gCc	p.V236A	SORBS3_ENST00000428103.1_5'Flank|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	236					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.V236A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GTAGACAATGTCTGGACGGAA	0.587													T|||	61	0.0121805	0.0446	0.0029	5008	,	,		20523	0.0		0.0	False		,,,				2504	0.0				p.V236A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T707C	8						.	T	ALA/VAL	182,4224	113.3+/-151.4	2,178,2023	54.0	53.0	53.0		707	4.9	0.9	8	dbSNP_131	53	0,8600		0,0,4300	yes	missense	SORBS3	NM_005775.4	64	2,178,6323	CC,CT,TT		0.0,4.1307,1.3994	benign	236/672	22421827	182,12824	2203	4300	6503	22477772	SO:0001583	missense	10174	exon9				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.707T>C	8.37:g.22421827T>C	ENSP00000240123:p.Val236Ala		22477772	NM_005775	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	CCDS6031.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	T	11.51	1.659650	0.29515	0.041307	0.0	ENSG00000120896	ENST00000240123	T	0.09911	2.93	4.95	4.95	0.65309	.	0.565167	0.14530	N	0.313937	T	0.01558	0.0050	L	0.29908	0.895	0.80722	D	1	B	0.22541	0.071	B	0.19666	0.026	T	0.11397	-1.0589	10	0.06757	T	0.87	-12.2794	11.0173	0.47696	0.0:0.0:0.0:1.0	.	236	O60504	VINEX_HUMAN	A	236	ENSP00000240123:V236A	ENSP00000240123:V236A	V	+	2	0	SORBS3	22477772	0.988000	0.35896	0.859000	0.33776	0.023000	0.10783	2.481000	0.45215	1.860000	0.53959	0.460000	0.39030	GTC		0.587	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775	
LOXL2	4017	broad.mit.edu	37	8	23160838	23160838	+	Silent	SNP	G	G	A	rs146005138		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:23160838G>A	ENST00000389131.3	-	11	2322	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	651	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.G651G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGGCCTTGTGGCCCTCTGCCA	0.592																																					p.G651G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1953T	8						.	G		0,4406		0,0,2203	144.0	119.0	128.0		1953	3.7	1.0	8	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LOXL2	NM_002318.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		651/775	23160838	1,13005	2203	4300	6503	23216783	SO:0001819	synonymous_variant	4017	exon11			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1953C>T	8.37:g.23160838G>A			23216783	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	CCDS34864.1																																																																																				0.592	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
ENTPD4	9583	broad.mit.edu	37	8	23299142	23299142	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:23299142G>A	ENST00000358689.4	-	8	1057	c.822C>T	c.(820-822)ggC>ggT	p.G274G	ENTPD4_ENST00000356206.6_Silent_p.G274G|ENTPD4_ENST00000417069.2_Silent_p.G274G	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	274					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.G274G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GAGTCGACACGCCGCCCATGT	0.478																																					p.G274G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C822T	8						.						124.0	109.0	114.0					8																	23299142		2203	4300	6503	23355087	SO:0001819	synonymous_variant	9583	exon8			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.822C>T	8.37:g.23299142G>A			23355087	NM_004901	D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	CCDS6041.1																																																																																				0.478	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901	
STC1	6781	broad.mit.edu	37	8	23711962	23711962	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:23711962G>A	ENST00000290271.2	-	1	358	c.75C>T	c.(73-75)gaC>gaT	p.D25D	STC1_ENST00000524323.1_5'Flank	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	25					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.D25D(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGCTCACAGAGTCATTCTGCT	0.527																																					p.D25D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C75T	8						.						94.0	96.0	96.0					8																	23711962		2203	4300	6503	23767907	SO:0001819	synonymous_variant	6781	exon1				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.75C>T	8.37:g.23711962G>A			23767907	NM_003155	B4DN22|Q71UE5	Silent	SNP	ENST00000290271.2	37	CCDS6043.1																																																																																				0.527	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1		
ADAM28	10863	broad.mit.edu	37	8	24190210	24190210	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:24190210A>G	ENST00000265769.4	+	13	1429	c.1319A>G	c.(1318-1320)aAa>aGa	p.K440R	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.K207R|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.K187R|ADAM28_ENST00000437154.2_Missense_Mutation_p.K440R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	440	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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.K440R(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)		AAGACATGTAAAATCAAAGCA	0.279																																					p.K440R	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1319G	8						.						100.0	92.0	95.0					8																	24190210		2203	4294	6497	24246155	SO:0001583	missense	10863	exon13			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.1319A>G	8.37:g.24190210A>G	ENSP00000265769:p.Lys440Arg		24246155	NM_021777	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494501	0.44352	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	6.17	3.76	0.43208	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.24044	0.0582	L	0.43646	1.37	0.49582	D	0.9998	P;D;D;B	0.89917	0.536;1.0;1.0;0.151	B;D;D;B	0.91635	0.302;0.999;0.999;0.155	T	0.01557	-1.1325	9	0.36615	T	0.2	.	6.6468	0.22939	0.7885:0.0:0.0744:0.1371	.	207;440;440;440	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	R	440;187;207;440	ENSP00000265769:K440R;ENSP00000380770:K187R;ENSP00000443743:K207R;ENSP00000393699:K440R	ENSP00000265769:K440R	K	+	2	0	ADAM28	24246155	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	2.146000	0.42216	0.538000	0.28769	0.533000	0.62120	AAA		0.279	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ADAMDEC1	27299	broad.mit.edu	37	8	24261600	24261600	+	Splice_Site	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:24261600A>G	ENST00000256412.4	+	13	1625	c.1405A>G	c.(1405-1407)Aca>Gca	p.T469A	ADAMDEC1_ENST00000538205.1_Splice_Site_p.T390A|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site_p.T390A	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	469	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T469A(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAACCATACCACGTAAGACCT	0.408																																					p.T390A	Ovarian(147;687 1849 3699 25981 31337)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1168G	8						.						194.0	182.0	186.0					8																	24261600		2203	4300	6503	24317545	SO:0001630	splice_region_variant	27299	exon12			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1406+1A>G	8.37:g.24261600A>G			24317545	NM_001145272	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.327652	0.24080	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.02525	4.26;4.28;4.28	5.46	1.37	0.22104	.	1.069840	0.07449	N	0.898678	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.49263	-0.8958	10	0.72032	D	0.01	1.3648	1.4455	0.02364	0.5493:0.1745:0.1084:0.1679	.	469	O15204	ADEC1_HUMAN	A	469;390;390	ENSP00000256412:T469A;ENSP00000442592:T390A;ENSP00000428993:T390A	ENSP00000256412:T469A	T	+	1	0	ADAMDEC1	24317545	0.003000	0.15002	0.000000	0.03702	0.053000	0.15095	0.549000	0.23329	-0.014000	0.14175	0.374000	0.22700	ACA		0.408	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	Missense_Mutation
ADAM7	8756	broad.mit.edu	37	8	24358371	24358371	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:24358371C>T	ENST00000175238.6	+	19	2154	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	ADAM7_ENST00000520720.1_Missense_Mutation_p.R463C|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R691C|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	691						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R691C(1)		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)		ACTATTAGTTCGTTACCGAAA	0.373																																					p.R691C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2071T	8						.						286.0	237.0	254.0					8																	24358371		2203	4300	6503	24414261	SO:0001583	missense	8756	exon19			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.2071C>T	8.37:g.24358371C>T	ENSP00000175238:p.Arg691Cys		24414261	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104535	0.37145	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.52754	1.52;1.55;0.65	4.45	2.58	0.30949	.	0.614833	0.14267	N	0.330416	T	0.50973	0.1647	M	0.62723	1.935	0.22081	N	0.999373	D;D	0.76494	0.999;0.999	P;P	0.53689	0.732;0.732	T	0.35351	-0.9792	10	0.38643	T	0.18	.	5.235	0.15441	0.3989:0.5032:0.0:0.0979	.	463;691	E5RK87;Q9H2U9	.;ADAM7_HUMAN	C	691;691;463;506	ENSP00000175238:R691C;ENSP00000370166:R691C;ENSP00000430400:R463C	ENSP00000175238:R691C	R	+	1	0	ADAM7	24414261	0.029000	0.19370	0.350000	0.25708	0.369000	0.29798	0.575000	0.23729	0.754000	0.32968	0.655000	0.94253	CGT		0.373	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
ADAM7	8756	broad.mit.edu	37	8	24359010	24359010	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:24359010G>A	ENST00000175238.6	+	20	2212	c.2129G>A	c.(2128-2130)gGa>gAa	p.G710E	ADAM7_ENST00000520720.1_Missense_Mutation_p.G482E|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G710E|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	710						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G710E(1)		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)		GAAACCCTGGGAGTGGAGAAC	0.378																																					p.G710E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2129A	8						.						91.0	92.0	92.0					8																	24359010		2203	4300	6503	24414900	SO:0001583	missense	8756	exon20			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.2129G>A	8.37:g.24359010G>A	ENSP00000175238:p.Gly710Glu		24414900	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764217	0.49574	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.51071	1.63;1.64;0.72	4.37	4.37	0.52481	.	0.000000	0.48767	D	0.000170	T	0.66366	0.2782	M	0.77486	2.375	0.34846	D	0.74114	D;D	0.89917	0.999;1.0	D;D	0.72075	0.941;0.976	T	0.75036	-0.3459	10	0.42905	T	0.14	.	12.6066	0.56527	0.0:0.0:1.0:0.0	.	482;710	E5RK87;Q9H2U9	.;ADAM7_HUMAN	E	710;710;482;525	ENSP00000175238:G710E;ENSP00000370166:G710E;ENSP00000430400:G482E	ENSP00000175238:G710E	G	+	2	0	ADAM7	24414900	1.000000	0.71417	0.854000	0.33618	0.423000	0.31445	4.046000	0.57376	2.438000	0.82558	0.563000	0.77884	GGA		0.378	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
ADAM7	8756	broad.mit.edu	37	8	24365022	24365022	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:24365022C>T	ENST00000175238.6	+	21	2321	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	ADAM7_ENST00000520720.1_Intron|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.I768I|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	746						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I746I(1)		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)		CAAGAGGAATCGCAGATCCCA	0.388																																					p.I746I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2238T	8						.						113.0	121.0	118.0					8																	24365022		2203	4300	6503	24420912	SO:0001819	synonymous_variant	8756	exon21			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.2238C>T	8.37:g.24365022C>T			24420912	NM_003817	A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	CCDS6045.1																																																																																				0.388	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
CHRNA2	1135	broad.mit.edu	37	8	27321200	27321200	+	Missense_Mutation	SNP	C	C	T	rs372418511		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:27321200C>T	ENST00000520933.2	-	5	913	c.760G>A	c.(760-762)Gac>Aac	p.D254N	CHRNA2_ENST00000407991.1_Missense_Mutation_p.D254N|CHRNA2_ENST00000240132.2_Missense_Mutation_p.D239N			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	254					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.D254N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	TAGGTGACGTCGGGGTAGATC	0.602																																					p.D254N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G760A	8						.						219.0	184.0	195.0					8																	27321200		2203	4300	6503	27377117	SO:0001583	missense	1135	exon6			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.760G>A	8.37:g.27321200C>T	ENSP00000429616:p.Asp254Asn		27377117	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696734	0.68386	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.80393	-1.37;-1.37;-1.37	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90584	0.7048	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	D	0.92058	0.5654	10	0.87932	D	0	.	15.7706	0.78164	0.0:1.0:0.0:0.0	.	239;254	B4DK19;Q15822	.;ACHA2_HUMAN	N	254;254;239	ENSP00000385026:D254N;ENSP00000429616:D254N;ENSP00000240132:D239N	ENSP00000240132:D239N	D	-	1	0	CHRNA2	27377117	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	7.651000	0.83577	2.590000	0.87494	0.561000	0.74099	GAC		0.602	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4		
NUGGC	389643	broad.mit.edu	37	8	27913502	27913502	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:27913502T>G	ENST00000413272.2	-	10	1328	c.1186A>C	c.(1186-1188)Att>Ctt	p.I396L	NUGGC_ENST00000341513.6_Missense_Mutation_p.I396L	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	396					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I396L(1)									TCCTTGAGAATTCTAGTCCTT	0.373																																					p.I396L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1186C	8						.						93.0	86.0	89.0					8																	27913502		1847	4098	5945	27969421	SO:0001583	missense	389643	exon10			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1186A>C	8.37:g.27913502T>G	ENSP00000408697:p.Ile396Leu		27969421	NM_001010906	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498532	0.26861	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13778	2.56;2.57	5.37	2.91	0.33838	.	0.818300	0.11480	N	0.559790	T	0.08044	0.0201	L	0.27053	0.805	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.44711	-0.9310	10	0.10902	T	0.67	-0.2336	5.5752	0.17218	0.0:0.0893:0.172:0.7387	.	396	Q68CJ6	SLIP_HUMAN	L	396	ENSP00000408697:I396L;ENSP00000345031:I396L	ENSP00000345031:I396L	I	-	1	0	C8orf80	27969421	0.002000	0.14202	0.153000	0.22517	0.988000	0.76386	0.804000	0.27098	0.319000	0.23209	0.455000	0.32223	ATT		0.373	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
NUGGC	389643	broad.mit.edu	37	8	27922170	27922170	+	Missense_Mutation	SNP	G	G	A	rs568739858		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:27922170G>A	ENST00000413272.2	-	7	932	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	NUGGC_ENST00000341513.6_Missense_Mutation_p.R264C	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	264					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R264C(1)									GGCCAGATGCGCATCTCAGCG	0.562																																					p.R264C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790T	8						.						88.0	91.0	90.0					8																	27922170		2137	4235	6372	27978089	SO:0001583	missense	389643	exon7			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.790C>T	8.37:g.27922170G>A	ENSP00000408697:p.Arg264Cys		27978089	NM_001010906	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735952	0.30774	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.95554	-3.74;-3.74	5.93	5.93	0.95920	Dynamin, GTPase domain (1);	0.714147	0.13116	N	0.412584	D	0.91317	0.7262	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	P	0.45138	0.471	D	0.85675	0.1297	10	0.49607	T	0.09	0.7403	15.8529	0.78947	0.0:0.0:1.0:0.0	.	264	Q68CJ6	SLIP_HUMAN	C	264	ENSP00000408697:R264C;ENSP00000345031:R264C	ENSP00000345031:R264C	R	-	1	0	C8orf80	27978089	0.251000	0.23961	0.164000	0.22755	0.008000	0.06430	3.991000	0.56973	2.815000	0.96918	0.650000	0.86243	CGC		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
FZD3	7976	broad.mit.edu	37	8	28384787	28384787	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:28384787A>C	ENST00000240093.3	+	5	988	c.510A>C	c.(508-510)aaA>aaC	p.K170N	FZD3_ENST00000537916.1_Missense_Mutation_p.K170N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	170					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.K170N(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)		GAGAGTTAAAAATTGATCCTG	0.448																																					p.K170N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A510C	8						.						232.0	228.0	229.0					8																	28384787		2203	4300	6503	28440706	SO:0001583	missense	7976	exon4			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.510A>C	8.37:g.28384787A>C	ENSP00000240093:p.Lys170Asn		28440706	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815275	0.50527	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.78364	-1.17;-1.17	4.94	2.54	0.30619	.	0.000000	0.85682	D	0.000000	D	0.84247	0.5430	M	0.78049	2.395	0.54753	D	0.999986	D	0.59767	0.986	D	0.62955	0.909	D	0.84056	0.0372	10	0.87932	D	0	.	8.4141	0.32662	0.7673:0.0:0.2327:0.0	.	170	Q9NPG1	FZD3_HUMAN	N	170	ENSP00000437489:K170N;ENSP00000240093:K170N	ENSP00000240093:K170N	K	+	3	2	FZD3	28440706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.288000	0.51739	0.827000	0.34685	0.533000	0.62120	AAA		0.448	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
INTS9	55756	broad.mit.edu	37	8	28695292	28695292	+	Splice_Site	SNP	G	G	A	rs368909488		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:28695292G>A	ENST00000521022.1	-	5	344	c.263C>T	c.(262-264)aCg>aTg	p.T88M	INTS9_ENST00000521777.1_Splice_Site_p.T64M|INTS9_ENST00000397363.4_De_novo_Start_InFrame|INTS9_ENST00000416984.2_Splice_Site_p.T67M	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	88					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.T88M(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)		TATTAGCTCCGTCTGAAAAGA	0.423																																					p.T67M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C200T	8						.	G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	90.0	77.0	82.0		200,191,263	5.3	1.0	8		82	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	INTS9	NM_001145159.2,NM_001172562.1,NM_018250.3	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	67/638,64/635,88/659	28695292	1,13005	2203	4300	6503	28751211	SO:0001630	splice_region_variant	55756	exon4			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.262-1C>T	8.37:g.28695292G>A			28751211	NM_001145159	B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083072	0.36758	0.0	1.16E-4	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000521777;ENST00000523436;ENST00000520184	T;T;T;T	0.48201	0.93;0.82;0.92;0.93	5.33	5.33	0.75918	.	0.178505	0.50627	D	0.000112	T	0.39627	0.1085	L	0.40543	1.245	0.80722	D	1	B;B;B	0.21606	0.058;0.004;0.019	B;B;B	0.18561	0.022;0.005;0.011	T	0.15235	-1.0444	10	0.38643	T	0.18	-19.6066	13.4791	0.61326	0.0744:0.0:0.9256:0.0	.	67;88;88	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	M	88;67;64;88;64	ENSP00000429065:T88M;ENSP00000398208:T67M;ENSP00000430943:T64M;ENSP00000427789:T88M	ENSP00000398208:T67M	T	-	2	0	INTS9	28751211	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	3.211000	0.51137	2.768000	0.95171	0.655000	0.94253	ACG		0.423	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250	Missense_Mutation
TEX15	56154	broad.mit.edu	37	8	30704174	30704174	+	Missense_Mutation	SNP	G	G	A	rs144577500	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:30704174G>A	ENST00000256246.2	-	1	2434	c.2360C>T	c.(2359-2361)cCg>cTg	p.P787L	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	787					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.P787L(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)		GTCAGCTGTCGGGCTGAATCC	0.358													G|||	5	0.000998403	0.0023	0.0029	5008	,	,		18621	0.0		0.0	False		,,,				2504	0.0				p.P787L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2360T	8						.	G	LEU/PRO	14,4390	21.2+/-45.6	0,14,2188	48.0	50.0	49.0		2360	-1.7	0.0	8	dbSNP_134	49	1,8597		0,1,4298	yes	missense	TEX15	NM_031271.3	98	0,15,6486	AA,AG,GG		0.0116,0.3179,0.1154	probably-damaging	787/2790	30704174	15,12987	2202	4299	6501	30823716	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.2360C>T	8.37:g.30704174G>A	ENSP00000256246:p.Pro787Leu		30823716	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.03	2.711579	0.48517	0.003179	1.16E-4	ENSG00000133863	ENST00000256246	T	0.10192	2.9	5.41	-1.71	0.08133	.	0.770020	0.11765	N	0.531745	T	0.06005	0.0156	L	0.36672	1.1	0.09310	N	1	B	0.32893	0.389	B	0.24269	0.052	T	0.32268	-0.9913	10	0.87932	D	0	.	1.4589	0.02391	0.1719:0.1305:0.2544:0.4433	.	787	Q9BXT5	TEX15_HUMAN	L	787	ENSP00000256246:P787L	ENSP00000256246:P787L	P	-	2	0	TEX15	30823716	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.096000	0.11059	-0.168000	0.10853	-0.176000	0.13171	CCG		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
WRN	7486	broad.mit.edu	37	8	31004987	31004987	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:31004987A>C	ENST00000298139.5	+	30	3816	c.3567A>C	c.(3565-3567)aaA>aaC	p.K1189N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1189	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				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.K1189N(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)		ATATGGCCAAAATGAGGTAAA	0.348			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.K1189N	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.A3567C	8						.						85.0	85.0	85.0					8																	31004987		2203	4300	6503	31124529	SO:0001583	missense	7486	exon30	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.3567A>C	8.37:g.31004987A>C	ENSP00000298139:p.Lys1189Asn		31124529	NM_000553	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166619	0.57476	.	.	ENSG00000165392	ENST00000298139	T	0.47869	0.83	4.97	2.47	0.30058	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.126319	0.50627	D	0.000114	T	0.58452	0.2123	L	0.58669	1.825	0.37196	D	0.904138	P;D	0.89917	0.682;1.0	B;D	0.79108	0.445;0.992	T	0.62932	-0.6749	10	0.72032	D	0.01	-17.5711	6.5834	0.22607	0.7153:0.1318:0.1529:0.0	.	599;1189	Q59F09;Q14191	.;WRN_HUMAN	N	1189	ENSP00000298139:K1189N	ENSP00000298139:K1189N	K	+	3	2	WRN	31124529	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	1.159000	0.31749	0.799000	0.34018	0.533000	0.62120	AAA		0.348	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
FUT10	84750	broad.mit.edu	37	8	33247124	33247124	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:33247124T>G	ENST00000327671.5	-	4	1200	c.569A>C	c.(568-570)gAa>gCa	p.E190A	FUT10_ENST00000518672.1_Missense_Mutation_p.E162A|FUT10_ENST00000524021.1_Missense_Mutation_p.E162A|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.E128A	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	190					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)	p.E190A(1)		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)		CTTCAGGACTTCAATGCTCTC	0.458																																					p.E190A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A569C	8						.						170.0	149.0	156.0					8																	33247124		2203	4300	6503	33366666	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.569A>C	8.37:g.33247124T>G	ENSP00000332757:p.Glu190Ala		33366666	NM_032664	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	t	5.399	0.258813	0.10239	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.24908	1.83;1.83;1.83;1.91	5.17	1.4	0.22301	.	0.658855	0.15673	N	0.250288	T	0.23451	0.0567	L	0.56199	1.76	0.09310	N	1	P;B;B;B;B;B	0.36712	0.566;0.026;0.026;0.036;0.273;0.028	B;B;B;B;B;B	0.40702	0.338;0.015;0.015;0.022;0.243;0.026	T	0.18903	-1.0322	10	0.14656	T	0.56	-2.5014	8.125	0.30992	0.0:0.2469:0.0:0.7531	.	240;190;162;128;190;232	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	A	190;232;162;162;128	ENSP00000332757:E190A;ENSP00000430428:E162A;ENSP00000429870:E162A;ENSP00000334997:E128A	ENSP00000332757:E190A	E	-	2	0	FUT10	33366666	0.310000	0.24527	0.001000	0.08648	0.722000	0.41435	2.145000	0.42207	0.059000	0.16252	0.451000	0.29950	GAA		0.458	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664	
UNC5D	137970	broad.mit.edu	37	8	35406930	35406930	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:35406930G>C	ENST00000404895.2	+	2	552	c.224G>C	c.(223-225)tGc>tCc	p.C75S	UNC5D_ENST00000453357.2_Missense_Mutation_p.C70S|UNC5D_ENST00000416672.1_Missense_Mutation_p.C75S|UNC5D_ENST00000420357.1_Missense_Mutation_p.C75S|UNC5D_ENST00000287272.2_Missense_Mutation_p.C75S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	75	Ig-like.				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.C70S(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)		GCACTCAGGTGCAAAGCGAGG	0.512																																					p.C75S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224C	8						.						64.0	59.0	60.0					8																	35406930		2203	4300	6503	35526472	SO:0001583	missense	137970	exon2			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.224G>C	8.37:g.35406930G>C	ENSP00000385143:p.Cys75Ser		35526472	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020359	0.75275	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	6.06	6.06	0.98353	Immunoglobulin-like fold (1);	0.046526	0.85682	D	0.000000	D	0.88544	0.6465	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.89649	0.3868	10	0.87932	D	0	-19.178	20.6397	0.99537	0.0:0.0:1.0:0.0	.	70;75	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	S	75;75;75;75;70	ENSP00000385143:C75S;ENSP00000392739:C75S;ENSP00000287272:C75S;ENSP00000412652:C75S;ENSP00000394303:C70S	ENSP00000287272:C75S	C	+	2	0	UNC5D	35526472	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	TGC		0.512	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
UNC5D	137970	broad.mit.edu	37	8	35541073	35541073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:35541073G>A	ENST00000404895.2	+	5	907	c.579G>A	c.(577-579)tgG>tgA	p.W193*	UNC5D_ENST00000453357.2_Nonsense_Mutation_p.W188*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.W193*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.W193*|UNC5D_ENST00000287272.2_Nonsense_Mutation_p.W193*	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	193	Ig-like C2-type.				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.W188*(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)		AGGTGGAATGGCTGAAAAATG	0.458																																					p.W193X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G579A	8						.						82.0	74.0	77.0					8																	35541073		2203	4300	6503	35660615	SO:0001587	stop_gained	137970	exon5			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.579G>A	8.37:g.35541073G>A	ENSP00000385143:p.Trp193*		35660615	NM_080872	Q8WYP7	Nonsense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	40	7.919543	0.98563	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	.	.	.	5.39	5.39	0.77823	.	0.052276	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9444	19.5354	0.95251	0.0:0.0:1.0:0.0	.	.	.	.	X	193;193;193;193;188	.	ENSP00000287272:W193X	W	+	3	0	UNC5D	35660615	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	TGG		0.458	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
UNC5D	137970	broad.mit.edu	37	8	35541165	35541165	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:35541165C>T	ENST00000404895.2	+	5	999	c.671C>T	c.(670-672)tCg>tTg	p.S224L	UNC5D_ENST00000453357.2_Missense_Mutation_p.S219L|UNC5D_ENST00000416672.1_Missense_Mutation_p.S224L|UNC5D_ENST00000420357.1_Missense_Mutation_p.S224L|UNC5D_ENST00000287272.2_Missense_Mutation_p.S224L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	224	Ig-like C2-type.				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.S219L(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)		GCACGGCTCTCGGACTCAGGA	0.522																																					p.S224L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671T	8						.						94.0	78.0	84.0					8																	35541165		2203	4300	6503	35660707	SO:0001583	missense	137970	exon5			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.671C>T	8.37:g.35541165C>T	ENSP00000385143:p.Ser224Leu		35660707	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	33	5.280350	0.95489	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.77486	2.375	0.80722	D	1	D;D	0.63046	0.992;0.976	P;P	0.51866	0.682;0.664	T	0.63152	-0.6701	10	0.54805	T	0.06	-11.8466	19.5354	0.95251	0.0:1.0:0.0:0.0	.	219;224	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	L	224;224;224;224;219	ENSP00000385143:S224L;ENSP00000392739:S224L;ENSP00000287272:S224L;ENSP00000412652:S224L;ENSP00000394303:S219L	ENSP00000287272:S224L	S	+	2	0	UNC5D	35660707	1.000000	0.71417	0.957000	0.39632	0.853000	0.48598	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	TCG		0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
UNC5D	137970	broad.mit.edu	37	8	35544156	35544156	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:35544156G>T	ENST00000404895.2	+	7	1341	c.1013G>T	c.(1012-1014)aGa>aTa	p.R338I	UNC5D_ENST00000453357.2_Missense_Mutation_p.R333I|UNC5D_ENST00000416672.1_Missense_Mutation_p.R338I|UNC5D_ENST00000420357.1_Missense_Mutation_p.R282I|UNC5D_ENST00000287272.2_Missense_Mutation_p.R282I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	338	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.R333I(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)		CCACCCCCGAGAAATGGGGGC	0.502																																					p.R338I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1013T	8						.						103.0	88.0	93.0					8																	35544156		2203	4300	6503	35663698	SO:0001583	missense	137970	exon7			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.1013G>T	8.37:g.35544156G>T	ENSP00000385143:p.Arg338Ile		35663698	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238686	0.39598	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.54279	0.58;2.23;2.23;0.58;0.58	5.76	5.76	0.90799	.	0.089354	0.85682	D	0.000000	T	0.53997	0.1831	L	0.46885	1.475	0.44417	D	0.99733	P;P;P	0.50443	0.833;0.935;0.889	B;P;P	0.47075	0.34;0.505;0.536	T	0.54463	-0.8290	10	0.52906	T	0.07	-21.2716	15.7857	0.78300	0.0:0.1355:0.8645:0.0	.	338;333;338	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	I	338;282;282;338;333	ENSP00000385143:R338I;ENSP00000392739:R282I;ENSP00000287272:R282I;ENSP00000412652:R338I;ENSP00000394303:R333I	ENSP00000287272:R282I	R	+	2	0	UNC5D	35663698	0.700000	0.27796	0.193000	0.23327	0.680000	0.39746	3.234000	0.51320	2.880000	0.98712	0.650000	0.86243	AGA		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
UNC5D	137970	broad.mit.edu	37	8	35647881	35647881	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:35647881T>G	ENST00000404895.2	+	17	2990	c.2662T>G	c.(2662-2664)Tta>Gta	p.L888V	UNC5D_ENST00000453357.2_Missense_Mutation_p.L883V|UNC5D_ENST00000449677.1_Missense_Mutation_p.L464V|UNC5D_ENST00000416672.1_Missense_Mutation_p.L893V|UNC5D_ENST00000420357.1_Missense_Mutation_p.L821V|AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000287272.2_Missense_Mutation_p.L819V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	888	Death.				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.L883V(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)		ATCTAGGAATTTATCTTATTT	0.373																																					p.L888V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2662G	8						.						102.0	93.0	96.0					8																	35647881		2203	4300	6503	35767423	SO:0001583	missense	137970	exon17			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.2662T>G	8.37:g.35647881T>G	ENSP00000385143:p.Leu888Val		35767423	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354209	0.61293	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.72	3.36	0.38483	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.62266	1.93	0.51233	D	0.999916	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.996;0.998	D	0.87505	0.2436	10	0.66056	D	0.02	-11.0851	8.2414	0.31662	0.0:0.3083:0.0:0.6917	.	464;883;888	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	888;821;819;893;883;464	ENSP00000385143:L888V;ENSP00000392739:L821V;ENSP00000287272:L819V;ENSP00000412652:L893V;ENSP00000394303:L883V;ENSP00000397211:L464V	ENSP00000287272:L819V	L	+	1	2	UNC5D	35767423	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.408000	0.44574	0.457000	0.26962	-0.379000	0.06801	TTA		0.373	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
KCNU1	157855	broad.mit.edu	37	8	36642013	36642013	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:36642013C>A	ENST00000399881.3	+	1	122	c.85C>A	c.(85-87)Ctc>Atc	p.L29I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	29					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.L29I(1)		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)		AGCATTCATTCTCTCTTCCTT	0.423																																					p.L29I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C85A	8						.						168.0	157.0	160.0					8																	36642013		1961	4151	6112	36761171	SO:0001583	missense	157855	exon1			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.85C>A	8.37:g.36642013C>A	ENSP00000382770:p.Leu29Ile		36761171	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217039	0.39201	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.34859	1.37;1.34	5.49	3.67	0.42095	.	.	.	.	.	T	0.39410	0.1077	L	0.60455	1.87	0.80722	D	1	P	0.52061	0.95	P	0.47981	0.563	T	0.32455	-0.9906	9	0.62326	D	0.03	.	9.0731	0.36504	0.0:0.821:0.0:0.179	.	29	A8MYU2	KCNU1_HUMAN	I	29	ENSP00000429951:L29I;ENSP00000382770:L29I	ENSP00000382770:L29I	L	+	1	0	KCNU1	36761171	0.991000	0.36638	0.951000	0.38953	0.079000	0.17450	0.700000	0.25601	1.455000	0.47813	0.650000	0.86243	CTC		0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
ADRB3	155	broad.mit.edu	37	8	37823658	37823658	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:37823658G>A	ENST00000345060.3	-	1	825	c.330C>T	c.(328-330)tgC>tgT	p.C110C	ADRB3_ENST00000520341.1_5'Flank	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	110					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)	p.C110C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	TCCACAGCTCGCAGCCAGTGG	0.701																																					p.C110C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C330T	8						.						21.0	21.0	21.0					8																	37823658		2200	4298	6498	37942815	SO:0001819	synonymous_variant	155	exon1			AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.330C>T	8.37:g.37823658G>A			37942815	NM_000025	Q4JFT4	Silent	SNP	ENST00000345060.3	37	CCDS6099.1																																																																																				0.701	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025	
WHSC1L1	54904	broad.mit.edu	37	8	38162828	38162828	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:38162828C>T	ENST00000317025.8	-	13	2895	c.2378G>A	c.(2377-2379)cGc>cAc	p.R793H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R793H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R793H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	793					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R793H(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGAGGACAGCGGAATCCTTT	0.428			T	NUP98	AML																																p.R793H			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2378A	8						.						101.0	94.0	96.0					8																	38162828		1962	4161	6123	38281985	SO:0001583	missense	54904	exon13			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2378G>A	8.37:g.38162828C>T	ENSP00000313983:p.Arg793His		38281985	NM_023034	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445429	0.96187	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.96200	-3.94;-3.94;-3.94	5.75	5.75	0.90469	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.48767	U	0.000164	D	0.97551	0.9198	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	P;D;P	0.63703	0.828;0.917;0.828	D	0.97835	1.0265	10	0.87932	D	0	.	19.9392	0.97153	0.0:1.0:0.0:0.0	.	793;793;793	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	H	793;793;730;793	ENSP00000393284:R793H;ENSP00000313983:R793H;ENSP00000434730:R793H	ENSP00000313983:R793H	R	-	2	0	WHSC1L1	38281985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	CGC		0.428	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034	
FGFR1	2260	broad.mit.edu	37	8	38273562	38273562	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:38273562G>A	ENST00000447712.2	-	13	2621	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	FGFR1_ENST00000335922.5_Silent_p.I550I|FGFR1_ENST00000326324.6_Silent_p.I469I|FGFR1_ENST00000397091.5_Silent_p.I558I|FGFR1_ENST00000397113.2_Silent_p.I558I|FGFR1_ENST00000397103.1_Silent_p.I471I|FGFR1_ENST00000532791.1_Silent_p.I558I|FGFR1_ENST00000356207.5_Silent_p.I471I|FGFR1_ENST00000397108.4_Silent_p.I558I|FGFR1_ENST00000425967.3_Silent_p.I591I|FGFR1_ENST00000341462.5_Silent_p.I560I	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	560	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.I560I(3)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CATACTCCACGATGACATACA	0.622		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														p.I558I	Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1674T	8						.						23.0	26.0	25.0					8																	38273562		2027	4196	6223	38392719	SO:0001819	synonymous_variant	2260	exon13			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1680C>T	8.37:g.38273562G>A			38392719	NM_001174065	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	CCDS6107.2																																																																																				0.622	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
FGFR1	2260	broad.mit.edu	37	8	38275887	38275887	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:38275887G>A	ENST00000447712.2	-	10	2230	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	FGFR1_ENST00000335922.5_Missense_Mutation_p.S420F|FGFR1_ENST00000326324.6_Missense_Mutation_p.S339F|FGFR1_ENST00000397091.5_Missense_Mutation_p.S428F|FGFR1_ENST00000397113.2_Missense_Mutation_p.S428F|FGFR1_ENST00000397103.1_Missense_Mutation_p.S341F|FGFR1_ENST00000532791.1_Missense_Mutation_p.S428F|FGFR1_ENST00000356207.5_Missense_Mutation_p.S341F|FGFR1_ENST00000397108.4_Missense_Mutation_p.S428F|FGFR1_ENST00000425967.3_Missense_Mutation_p.S461F|FGFR1_ENST00000341462.5_Missense_Mutation_p.S430F	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	430					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.S430F(2)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGAGTCAGCAGACACCTGCAA	0.582		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														p.S428F	Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1283T	8						.						28.0	33.0	31.0					8																	38275887		2142	4243	6385	38395044	SO:0001583	missense	2260	exon10			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1289C>T	8.37:g.38275887G>A	ENSP00000400162:p.Ser430Phe		38395044	NM_001174065	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764816	0.90020	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	M	0.89287	3.02	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;0.998;0.992;0.999	D	0.95951	0.8954	10	0.87932	D	0	.	19.4989	0.95085	0.0:0.0:1.0:0.0	.	339;339;430;420;428	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	F	428;461;430;430;430;428;428;341;420;339;341;428	ENSP00000380280:S428F;ENSP00000393312:S461F;ENSP00000400162:S430F;ENSP00000340636:S430F;ENSP00000432972:S428F;ENSP00000380302:S428F;ENSP00000348537:S341F;ENSP00000337247:S420F;ENSP00000327229:S339F;ENSP00000380292:S341F;ENSP00000380297:S428F	ENSP00000311337:S430F	S	-	2	0	FGFR1	38395044	1.000000	0.71417	0.967000	0.41034	0.685000	0.39939	9.809000	0.99208	2.678000	0.91216	0.655000	0.94253	TCT		0.582	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
FGFR1	2260	broad.mit.edu	37	8	38285864	38285864	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:38285864G>A	ENST00000447712.2	-	4	1389	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000335922.5_Splice_Site_p.P142S|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Splice_Site_p.P150S|FGFR1_ENST00000356207.5_Splice_Site_p.P61S|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000341462.5_Intron	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	150					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.P150S(5)|p.P61S(2)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGTGTCTCACGCATACGGTTT	0.512		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														p.P61S	Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.	7	Substitution - Missense(7)	large_intestine(7)	c.C181T	8						.						248.0	257.0	254.0					8																	38285864		2003	4169	6172	38405021	SO:0001630	splice_region_variant	2260	exon3			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.448+1C>T	8.37:g.38285864G>A			38405021	NM_001174066	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670335	0.47677	.	.	ENSG00000077782	ENST00000447712;ENST00000310729;ENST00000532791;ENST00000356207;ENST00000335922;ENST00000525001;ENST00000529552	T;T;T;T;T;T	0.79352	-1.25;-1.25;-1.19;-1.26;-1.08;-0.93	5.63	4.76	0.60689	.	0.282088	0.40385	N	0.001112	T	0.66858	0.2832	N	0.24115	0.695	0.80722	D	1	P;D;P;P;P;P	0.54601	0.945;0.967;0.868;0.472;0.84;0.663	B;P;P;B;B;B	0.47981	0.277;0.563;0.508;0.098;0.064;0.247	T	0.64546	-0.6382	9	.	.	.	.	7.2257	0.26014	0.2601:0.0:0.7399:0.0	.	61;61;61;142;61;150	B5A959;P11362-3;P11362-4;P11362-20;P11362-16;P11362-2	.;.;.;.;.;.	S	150;150;150;61;142;150;61	ENSP00000400162:P150S;ENSP00000432972:P150S;ENSP00000348537:P61S;ENSP00000337247:P142S;ENSP00000434712:P150S;ENSP00000435283:P61S	.	P	-	1	0	FGFR1	38405021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.166000	0.50785	1.392000	0.46585	0.563000	0.77884	CCC		0.512	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation
IDO1	3620	broad.mit.edu	37	8	39780096	39780096	+	Missense_Mutation	SNP	C	C	T	rs370075063		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:39780096C>T	ENST00000518237.1	+	6	1102	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	IDO1_ENST00000522495.1_Missense_Mutation_p.R155C|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	155					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.R155C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GTTCTCATTTCGTGATGGAGA	0.368																																					p.R155C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463T	8						.	C	CYS/ARG	0,3718		0,0,1859	133.0	124.0	127.0		463	5.9	1.0	8		127	1,8217		0,1,4108	no	missense	IDO1	NM_002164.5	180	0,1,5967	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	155/404	39780096	1,11935	1859	4109	5968	39899253	SO:0001583	missense	3620	exon6			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.463C>T	8.37:g.39780096C>T	ENSP00000430950:p.Arg155Cys		39899253	NM_002164	Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434959	0.62955	0.0	1.22E-4	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.42900	0.96;0.96;0.96	5.87	5.87	0.94306	.	0.077604	0.48767	D	0.000162	T	0.47985	0.1475	N	0.22421	0.69	0.49582	D	0.999809	D	0.76494	0.999	P	0.61003	0.882	T	0.30679	-0.9970	9	.	.	.	-16.1899	17.6929	0.88273	0.0:1.0:0.0:0.0	.	155	P14902	I23O1_HUMAN	C	155	ENSP00000428716:R155C;ENSP00000430505:R155C;ENSP00000430950:R155C	.	R	+	1	0	IDO1	39899253	1.000000	0.71417	0.999000	0.59377	0.127000	0.20565	5.947000	0.70242	2.775000	0.95449	0.650000	0.86243	CGT		0.368	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
IDO1	3620	broad.mit.edu	37	8	39782275	39782275	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:39782275C>T	ENST00000518237.1	+	8	1330	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	IDO1_ENST00000522495.1_Missense_Mutation_p.R231C|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	231					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.R231C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	CAGTGTTCTTCGCATATATTT	0.358																																					p.R231C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691T	8						.						159.0	138.0	144.0					8																	39782275		1860	4094	5954	39901432	SO:0001583	missense	3620	exon8			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.691C>T	8.37:g.39782275C>T	ENSP00000430950:p.Arg231Cys		39901432	NM_002164	Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020215	0.54576	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.68903	-0.36;-0.36	5.76	5.76	0.90799	.	0.147419	0.43919	D	0.000517	D	0.86719	0.6000	H	0.95004	3.61	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.89558	0.3804	9	.	.	.	-15.5731	15.8165	0.78604	0.0:1.0:0.0:0.0	.	231	P14902	I23O1_HUMAN	C	231	ENSP00000430505:R231C;ENSP00000430950:R231C	.	R	+	1	0	IDO1	39901432	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	2.193000	0.42658	2.885000	0.99019	0.643000	0.83706	CGC		0.358	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
ANK1	286	broad.mit.edu	37	8	41545714	41545714	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:41545714C>T	ENST00000347528.4	-	35	4301	c.4218G>A	c.(4216-4218)aaG>aaA	p.K1406K	ANK1_ENST00000379758.2_Silent_p.K1406K|ANK1_ENST00000352337.4_Silent_p.K1406K|ANK1_ENST00000396942.1_Silent_p.K1406K|ANK1_ENST00000396945.1_Silent_p.K1406K|ANK1_ENST00000265709.8_Silent_p.K1447K|ANK1_ENST00000289734.7_Silent_p.K1406K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1406	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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.K1406K(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)			TAACAGCCATCTTCATCTCTG	0.542																																					p.K1406K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4218A	8						.						278.0	233.0	248.0					8																	41545714		2203	4300	6503	41664871	SO:0001819	synonymous_variant	286	exon35			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.4218G>A	8.37:g.41545714C>T			41664871	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	5.329	0.246007	0.10077	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.53	2.09	0.27110	.	.	.	.	.	T	0.59404	0.2191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54833	-0.8234	4	.	.	.	.	10.5067	0.44839	0.0:0.7715:0.0:0.2285	.	.	.	.	N	728	.	.	D	-	1	0	ANK1	41664871	1.000000	0.71417	0.999000	0.59377	0.473000	0.32948	1.499000	0.35671	0.625000	0.30304	0.563000	0.77884	GAT		0.542	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
ANK1	286	broad.mit.edu	37	8	41577200	41577200	+	Silent	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:41577200G>T	ENST00000347528.4	-	10	1169	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	ANK1_ENST00000379758.2_Silent_p.A362A|ANK1_ENST00000352337.4_Silent_p.A362A|ANK1_ENST00000396942.1_Silent_p.A362A|ANK1_ENST00000396945.1_Silent_p.A362A|ANK1_ENST00000265709.8_Silent_p.A395A|ANK1_ENST00000289734.7_Silent_p.A362A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	362	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.A362A(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)			AGTTGGGTTTGGCCCCTTTAT	0.632																																					p.A362A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1086A	8						.						168.0	162.0	164.0					8																	41577200		2203	4300	6503	41696357	SO:0001819	synonymous_variant	286	exon10			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.1086C>A	8.37:g.41577200G>T			41696357	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																				0.632	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
PLAT	5327	broad.mit.edu	37	8	42038121	42038121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:42038121C>T	ENST00000220809.4	-	10	1228	c.972G>A	c.(970-972)tgG>tgA	p.W324*	PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Nonsense_Mutation_p.W198*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.W261*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.W324*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.W278*|PLAT_ENST00000524009.1_Nonsense_Mutation_p.W235*	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	324	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.W324*(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)	TGGCAGCCTGCCAGGGGTGGG	0.632																																					p.W278X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G834A	8						.						59.0	61.0	60.0					8																	42038121		2203	4300	6503	42157278	SO:0001587	stop_gained	5327	exon9				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.972G>A	8.37:g.42038121C>T	ENSP00000220809:p.Trp324*		42157278	NM_033011	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Nonsense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	39	7.852606	0.98525	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	.	.	.	5.22	5.22	0.72569	.	0.239675	0.46442	D	0.000292	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1496	0.93482	0.0:1.0:0.0:0.0	.	.	.	.	X	324;324;278;261;198;235	.	ENSP00000220809:W324X	W	-	3	0	PLAT	42157278	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.403000	0.79983	2.595000	0.87683	0.650000	0.86243	TGG		0.632	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
DKK4	27121	broad.mit.edu	37	8	42231652	42231652	+	Missense_Mutation	SNP	C	C	T	rs202061584		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:42231652C>T	ENST00000220812.2	-	4	827	c.641G>A	c.(640-642)cGa>cAa	p.R214Q		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	214	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.R214Q(1)		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)			TACTCTTAATCGAGCATGCTG	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		18761	0.001		0.0	False		,,,				2504	0.0				p.R214Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G641A	8						.						75.0	82.0	79.0					8																	42231652		2203	4300	6503	42350809	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.641G>A	8.37:g.42231652C>T	ENSP00000220812:p.Arg214Gln		42350809	NM_014420	Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	CCDS6130.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	10.32|10.32	1.318894|1.318894	0.23994|0.23994	.|.	.|.	ENSG00000104371|ENSG00000104371	ENST00000543914|ENST00000220812	.|T	.|0.35605	.|1.3	6.03|6.03	4.26|4.26	0.50523|0.50523	.|.	.|0.219932	.|0.32002	.|N	.|0.006736	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.61387|0.61387	1.9|1.9	0.09310|0.09310	N|N	1|1	.|P	.|0.34662	.|0.462	.|B	.|0.26202	.|0.067	T|T	0.26538|0.26538	-1.0100|-1.0100	6|10	0.87932|0.54805	D|T	0|0.06	.|.	9.3095|9.3095	0.37895|0.37895	0.0:0.8365:0.0:0.1635|0.0:0.8365:0.0:0.1635	.|.	.|214	.|Q9UBT3	.|DKK4_HUMAN	N|Q	139|214	.|ENSP00000220812:R214Q	ENSP00000441789:D139N|ENSP00000220812:R214Q	D|R	-|-	1|2	0|0	DKK4|DKK4	42350809|42350809	0.038000|0.038000	0.19896|0.19896	0.003000|0.003000	0.11579|0.11579	0.000000|0.000000	0.00434|0.00434	1.252000|1.252000	0.32874|0.32874	0.892000|0.892000	0.36259|0.36259	-0.140000|-0.140000	0.14226|0.14226	GAT|CGA		0.398	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1		
CHRNB3	1142	broad.mit.edu	37	8	42587039	42587039	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:42587039G>A	ENST00000289957.2	+	5	717	c.589G>A	c.(589-591)Gat>Aat	p.D197N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	197					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.D197N(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	AGACTTCTTCGATAACGGAGA	0.463																																					p.D197N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589A	8						.						93.0	91.0	91.0					8																	42587039		2203	4300	6503	42706196	SO:0001583	missense	1142	exon5			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.589G>A	8.37:g.42587039G>A	ENSP00000289957:p.Asp197Asn		42706196	NM_000749	Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.645862	0.87958	.	.	ENSG00000147432	ENST00000289957	T	0.77229	-1.08	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81373	-0.0962	10	0.34782	T	0.22	.	19.6328	0.95718	0.0:0.0:1.0:0.0	.	197	Q05901	ACHB3_HUMAN	N	197	ENSP00000289957:D197N	ENSP00000289957:D197N	D	+	1	0	CHRNB3	42706196	1.000000	0.71417	0.961000	0.40146	0.684000	0.39900	9.869000	0.99810	2.637000	0.89404	0.650000	0.86243	GAT		0.463	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
HGSNAT	138050	broad.mit.edu	37	8	43033237	43033237	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:43033237C>A	ENST00000458501.2	+	10	956	c.956C>A	c.(955-957)tCt>tAt	p.S319Y	HGSNAT_ENST00000297798.7_5'Flank|HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000379644.4_Missense_Mutation_p.S291Y			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	319					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.S319Y(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)			ATTATGGGATCTTCCATTTTT	0.328																																					p.S291Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C872A	8						.						139.0	138.0	139.0					8																	43033237		1799	4063	5862	43152394	SO:0001583	missense	138050	exon10				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.956C>A	8.37:g.43033237C>A	ENSP00000389524:p.Ser319Tyr		43152394	NM_152419	B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	C	11.90	1.778143	0.31502	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082	D;D;D	0.89939	-2.59;-2.59;-2.13	5.68	3.9	0.45041	.	0.248879	0.37178	N	0.002207	D	0.89188	0.6644	L	0.58101	1.795	0.80722	D	1	P	0.38335	0.627	P	0.46940	0.532	D	0.87947	0.2721	10	0.72032	D	0.01	-6.2955	10.2639	0.43443	0.0:0.8402:0.0:0.1598	.	319	Q68CP4	HGNAT_HUMAN	Y	319;291;38	ENSP00000389524:S319Y;ENSP00000368965:S291Y;ENSP00000430151:S38Y	ENSP00000368965:S291Y	S	+	2	0	HGSNAT	43152394	0.998000	0.40836	0.156000	0.22583	0.062000	0.15995	4.512000	0.60469	0.783000	0.33636	-0.142000	0.14014	TCT		0.328	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
SPIDR	23514	broad.mit.edu	37	8	48586390	48586390	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:48586390T>G	ENST00000297423.4	+	11	1956	c.1572T>G	c.(1570-1572)tgT>tgG	p.C524W	SPIDR_ENST00000518074.1_Missense_Mutation_p.C464W|SPIDR_ENST00000517693.1_5'UTR|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.C454W	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	524					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)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.C524W(1)									AAGATGCCTGTGGAATGTTCG	0.458																																					p.C524W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1572G	8						.						168.0	171.0	170.0					8																	48586390		1931	4146	6077	48748943	SO:0001583	missense	23514	exon11			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1572T>G	8.37:g.48586390T>G	ENSP00000297423:p.Cys524Trp		48748943	NM_001080394	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.35|13.35	2.210296|2.210296	0.39003|0.39003	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141|ENST00000519401	.|.	.|.	.|.	5.46|5.46	1.77|1.77	0.24775|0.24775	.|.	0.688385|.	0.14507|.	N|.	0.315347|.	T|T	0.36608|0.36608	0.0973|0.0973	L|L	0.44542|0.44542	1.39|1.39	0.27306|0.27306	N|N	0.957431|0.957431	P;P;D;D;P;P;P|.	0.55385|.	0.911;0.911;0.967;0.971;0.911;0.799;0.799|.	B;B;P;P;P;P;P|.	0.50378|.	0.443;0.443;0.582;0.639;0.562;0.465;0.465|.	T|T	0.25779|0.25779	-1.0122|-1.0122	9|5	0.38643|.	T|.	0.18|.	.|.	6.9886|6.9886	0.24743|0.24743	0.0:0.2698:0.0:0.7302|0.0:0.2698:0.0:0.7302	.|.	14;29;464;454;524;213;524|.	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;Q14159|.	.;.;.;.;.;.;K0146_HUMAN|.	W|G	524;464;454;29|206	.|.	ENSP00000297423:C524W|.	C|V	+|+	3|2	2|0	KIAA0146|KIAA0146	48748943|48748943	0.665000|0.665000	0.27466|0.27466	0.037000|0.037000	0.18230|0.18230	0.741000|0.741000	0.42261|0.42261	0.097000|0.097000	0.15168|0.15168	0.074000|0.074000	0.16767|0.16767	0.482000|0.482000	0.46254|0.46254	TGT|GTG		0.458	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394	
PRKDC	5591	broad.mit.edu	37	8	48762032	48762032	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:48762032C>T	ENST00000314191.2	-	54	7091	c.7035G>A	c.(7033-7035)gcG>gcA	p.A2345A	PRKDC_ENST00000338368.3_Silent_p.A2345A|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2346					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.A2346A(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)	TCAATTGTTTCGCAACCAGTT	0.388								Non-homologous end-joining																													p.R2346Q	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7037A	8						.						132.0	121.0	124.0					8																	48762032		1866	4118	5984	48924585	SO:0001819	synonymous_variant	5591	exon53				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.7035G>A	8.37:g.48762032C>T			48924585	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																					0.388	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48794518	48794518	+	Silent	SNP	G	G	A	rs529999429		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:48794518G>A	ENST00000314191.2	-	38	4970	c.4914C>T	c.(4912-4914)ctC>ctT	p.L1638L	PRKDC_ENST00000338368.3_Silent_p.L1638L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1639					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.L1639L(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)	TTTTAGTTTCGAGAGGGGAAT	0.423								Non-homologous end-joining					G|||	1	0.000199681	0.0	0.0	5008	,	,		16578	0.0		0.0	False		,,,				2504	0.001				p.S1639L	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4916T	8						.						106.0	101.0	103.0					8																	48794518		1874	4107	5981	48957071	SO:0001819	synonymous_variant	5591	exon37				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.4914C>T	8.37:g.48794518G>A			48957071	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																					0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48811031	48811031	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:48811031G>A	ENST00000314191.2	-	29	3519	c.3463C>T	c.(3463-3465)Cga>Tga	p.R1155*	PRKDC_ENST00000338368.3_Splice_Site_p.R1155*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1155					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.R1155*(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)	ATCACCTACCGCGGCAAACGT	0.408								Non-homologous end-joining																													p.R1155X	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3463T	8						.						93.0	92.0	92.0					8																	48811031		1897	4107	6004	48973584	SO:0001630	splice_region_variant	5591	exon29				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.3464+1C>T	8.37:g.48811031G>A			48973584	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	41	9.037787	0.99044	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.46	3.5	0.40072	.	0.069961	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2267	0.59919	0.0:0.0:0.517:0.483	.	.	.	.	X	1155	.	ENSP00000313420:R1155X	R	-	1	2	PRKDC	48973584	0.990000	0.36364	0.627000	0.29227	0.733000	0.41908	1.591000	0.36665	0.502000	0.28037	0.557000	0.71058	CGA		0.408	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	Nonsense_Mutation
PRKDC	5591	broad.mit.edu	37	8	48846649	48846649	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:48846649C>T	ENST00000314191.2	-	15	1555	c.1499G>A	c.(1498-1500)gGc>gAc	p.G500D	PRKDC_ENST00000338368.3_Splice_Site_p.G500D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	500			G -> S (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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.G500D(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)	AGACTCAGGGCCCTGGCCAGA	0.463								Non-homologous end-joining																													p.G500D	Esophageal Squamous(79;1091 1253 12329 31680 40677)											PRKDC,skin,NS,Substitution - Missense,-1 	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499A	8						.						119.0	113.0	115.0					8																	48846649		1895	4108	6003	49009202	SO:0001630	splice_region_variant	5591	exon15				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.1498-1G>A	8.37:g.48846649C>T			49009202	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	7.945	0.743518	0.15642	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02472	4.34;4.28	3.9	0.96	0.19631	Armadillo-type fold (1);	0.881456	0.09880	N	0.743835	T	0.01353	0.0044	.	.	.	0.21184	N	0.999767	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.11329	0.006;0.003;0.004	T	0.46261	-0.9204	9	0.02654	T	1	.	7.6924	0.28575	0.0:0.5999:0.0:0.4001	.	500;500;500	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	D	500	ENSP00000313420:G500D;ENSP00000345182:G500D	ENSP00000313420:G500D	G	-	2	0	PRKDC	49009202	0.009000	0.17119	0.087000	0.20705	0.032000	0.12392	-0.194000	0.09559	0.190000	0.20209	0.557000	0.71058	GGC		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	Missense_Mutation
ST18	9705	broad.mit.edu	37	8	53049216	53049216	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:53049216A>G	ENST00000276480.7	-	19	2917	c.2234T>C	c.(2233-2235)gTt>gCt	p.V745A		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	745					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.V745A(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)				ACATCCAGAAACACTAGAGAG	0.443																																					p.V745A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2234C	8						.						49.0	43.0	45.0					8																	53049216		2203	4300	6503	53211769	SO:0001583	missense	9705	exon19			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.2234T>C	8.37:g.53049216A>G	ENSP00000276480:p.Val745Ala		53211769	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979228	0.92982	.	.	ENSG00000147488	ENST00000276480	T	0.47177	0.85	5.91	5.91	0.95273	.	0.110128	0.64402	D	0.000009	T	0.42899	0.1223	N	0.01631	-0.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61652	-0.7019	10	0.36615	T	0.2	-16.6154	16.3483	0.83171	1.0:0.0:0.0:0.0	.	745	O60284	ST18_HUMAN	A	745	ENSP00000276480:V745A	ENSP00000276480:V745A	V	-	2	0	ST18	53211769	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.273000	0.95719	2.254000	0.74563	0.533000	0.62120	GTT		0.443	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
ST18	9705	broad.mit.edu	37	8	53085129	53085129	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:53085129T>G	ENST00000276480.7	-	10	975	c.292A>C	c.(292-294)Aaa>Caa	p.K98Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	98					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.K98Q(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)				TCCATAGGTTTTATCATGATT	0.308																																					p.K98Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A292C	8						.						23.0	23.0	23.0					8																	53085129		2112	4267	6379	53247682	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.292A>C	8.37:g.53085129T>G	ENSP00000276480:p.Lys98Gln		53247682	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	8.133	0.783559	0.16189	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.47869	0.85;0.83	5.25	4.1	0.47936	.	0.912507	0.09588	N	0.781877	T	0.45054	0.1323	L	0.60455	1.87	0.31834	N	0.624327	B	0.06786	0.001	B	0.11329	0.006	T	0.46205	-0.9208	10	0.32370	T	0.25	-15.3267	9.6543	0.39917	0.0:0.0794:0.0:0.9206	.	98	O60284	ST18_HUMAN	Q	98	ENSP00000276480:K98Q;ENSP00000428521:K98Q	ENSP00000276480:K98Q	K	-	1	0	ST18	53247682	0.985000	0.35326	0.190000	0.23270	0.087000	0.18053	3.240000	0.51368	0.839000	0.34971	0.533000	0.62120	AAA		0.308	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
OPRK1	4986	broad.mit.edu	37	8	54163347	54163347	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:54163347A>G	ENST00000265572.3	-	2	548	c.251T>C	c.(250-252)aTc>aCc	p.I84T	OPRK1_ENST00000520287.1_Missense_Mutation_p.I84T	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	84					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.I84T(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCACCGGATGATCACGAACAT	0.692																																					p.I84T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T251C	8						.						42.0	34.0	37.0					8																	54163347		2202	4299	6501	54325900	SO:0001583	missense	4986	exon2				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.251T>C	8.37:g.54163347A>G	ENSP00000265572:p.Ile84Thr		54325900	NM_000912	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603888	0.87157	.	.	ENSG00000082556	ENST00000265572;ENST00000520287;ENST00000396798	T;T	0.23147	1.92;1.92	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.134163	0.64402	D	0.000003	T	0.44891	0.1315	M	0.81341	2.54	0.80722	D	1	B	0.32893	0.389	P	0.46208	0.507	T	0.49579	-0.8925	10	0.87932	D	0	.	13.2192	0.59877	1.0:0.0:0.0:0.0	.	84	P41145	OPRK_HUMAN	T	84;84;70	ENSP00000265572:I84T;ENSP00000429706:I84T	ENSP00000265572:I84T	I	-	2	0	OPRK1	54325900	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.481000	0.90437	2.131000	0.65755	0.379000	0.24179	ATC		0.692	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
RP1	6101	broad.mit.edu	37	8	55537660	55537660	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:55537660G>T	ENST00000220676.1	+	4	1366	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	406					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.E406D(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTTGGCAGAGGAGATAAACA	0.448																																					p.E406D	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1218T	8						.						94.0	93.0	93.0					8																	55537660		2203	4300	6503	55700213	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1218G>T	8.37:g.55537660G>T	ENSP00000220676:p.Glu406Asp		55700213	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444887	0.04604	.	.	ENSG00000104237	ENST00000220676	T	0.30448	1.53	5.15	-0.396	0.12427	.	0.455201	0.20654	N	0.088151	T	0.27559	0.0677	M	0.70595	2.14	0.09310	N	1	P	0.43094	0.799	B	0.40066	0.318	T	0.13764	-1.0497	10	0.36615	T	0.2	.	6.6994	0.23217	0.421:0.0:0.4698:0.1092	.	406	P56715	RP1_HUMAN	D	406	ENSP00000220676:E406D	ENSP00000220676:E406D	E	+	3	2	RP1	55700213	0.650000	0.27331	0.048000	0.18961	0.019000	0.09904	0.094000	0.15107	-0.107000	0.12088	-0.355000	0.07637	GAG		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55538301	55538301	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:55538301C>A	ENST00000220676.1	+	4	2007	c.1859C>A	c.(1858-1860)tCt>tAt	p.S620Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	620					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S620Y(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTAATAACTCTGGAACTGAC	0.378																																					p.S620Y	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1859A	8						.						56.0	60.0	59.0					8																	55538301		2203	4300	6503	55700854	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1859C>A	8.37:g.55538301C>A	ENSP00000220676:p.Ser620Tyr		55700854	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	0.276	-0.989645	0.02162	.	.	ENSG00000104237	ENST00000220676	T	0.56776	0.44	5.39	0.899	0.19271	.	0.748438	0.11943	N	0.514463	T	0.38026	0.1025	L	0.43152	1.355	0.09310	N	1	B	0.28760	0.221	B	0.22386	0.039	T	0.24225	-1.0166	10	0.45353	T	0.12	.	4.4834	0.11778	0.138:0.505:0.2693:0.0877	.	620	P56715	RP1_HUMAN	Y	620	ENSP00000220676:S620Y	ENSP00000220676:S620Y	S	+	2	0	RP1	55700854	0.000000	0.05858	0.007000	0.13788	0.060000	0.15804	-0.123000	0.10611	0.158000	0.19367	0.591000	0.81541	TCT		0.378	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55542510	55542510	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:55542510A>C	ENST00000220676.1	+	4	6216	c.6068A>C	c.(6067-6069)aAa>aCa	p.K2023T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2023					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.K2023T(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTTAAAGAAATTTCAACCA	0.333																																					p.K2023T	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6068C	8						.						77.0	83.0	81.0					8																	55542510		2203	4298	6501	55705063	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6068A>C	8.37:g.55542510A>C	ENSP00000220676:p.Lys2023Thr		55705063	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	3.485	-0.104986	0.06967	.	.	ENSG00000104237	ENST00000220676	T	0.23754	1.89	5.82	0.423	0.16463	.	0.782162	0.11476	N	0.560251	T	0.21881	0.0527	L	0.56769	1.78	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.30031	-0.9992	10	0.72032	D	0.01	.	3.7688	0.08633	0.436:0.3632:0.0685:0.1324	.	2023	P56715	RP1_HUMAN	T	2023	ENSP00000220676:K2023T	ENSP00000220676:K2023T	K	+	2	0	RP1	55705063	0.051000	0.20477	0.044000	0.18714	0.011000	0.07611	1.327000	0.33746	-0.141000	0.11374	0.482000	0.46254	AAA		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55542902	55542902	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:55542902G>A	ENST00000220676.1	+	4	6608	c.6460G>A	c.(6460-6462)Gaa>Aaa	p.E2154K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2154					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.E2154K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGAGAACAAGAAGATTTATA	0.313																																					p.E2154K	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6460A	8						.						32.0	36.0	35.0					8																	55542902		2173	4274	6447	55705455	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6460G>A	8.37:g.55542902G>A	ENSP00000220676:p.Glu2154Lys		55705455	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677171	0.29783	.	.	ENSG00000104237	ENST00000220676	T	0.22743	1.94	4.4	-0.93	0.10441	.	3.358630	0.01270	N	0.009420	T	0.11836	0.0288	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30851	-0.9964	10	0.59425	D	0.04	.	5.4987	0.16817	0.4501:0.1432:0.4067:0.0	.	2154	P56715	RP1_HUMAN	K	2154	ENSP00000220676:E2154K	ENSP00000220676:E2154K	E	+	1	0	RP1	55705455	0.003000	0.15002	0.000000	0.03702	0.034000	0.12701	0.124000	0.15728	-0.070000	0.12908	0.655000	0.94253	GAA		0.313	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
XKR4	114786	broad.mit.edu	37	8	56436102	56436102	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:56436102C>A	ENST00000327381.6	+	3	1369	c.1269C>A	c.(1267-1269)ttC>ttA	p.F423L	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	423						integral component of membrane (GO:0016021)		p.F423L(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)			AGACAGAATTCTGTATCACCA	0.483																																					p.F423L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1269A	8						.						257.0	227.0	237.0					8																	56436102		2203	4300	6503	56598656	SO:0001583	missense	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.1269C>A	8.37:g.56436102C>A	ENSP00000328326:p.Phe423Leu		56598656	NM_052898	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895351	0.72639	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.66638	-0.22	5.69	5.69	0.88448	.	0.090529	0.85682	D	0.000000	T	0.77968	0.4210	M	0.63428	1.95	0.58432	D	0.999995	D	0.71674	0.998	D	0.67103	0.949	T	0.78725	-0.2092	10	0.59425	D	0.04	-1.5874	13.4969	0.61432	0.0:0.9195:0.0:0.0805	.	423	Q5GH76	XKR4_HUMAN	L	423	ENSP00000328326:F423L	ENSP00000328326:F423L	F	+	3	2	XKR4	56598656	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.114000	0.57858	2.691000	0.91804	0.655000	0.94253	TTC		0.483	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898	
LYN	4067	broad.mit.edu	37	8	56864653	56864653	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:56864653G>A	ENST00000519728.1	+	7	912	c.616G>A	c.(616-618)Gac>Aac	p.D206N	LYN_ENST00000520220.2_Missense_Mutation_p.D185N	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	206	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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.D206N(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)	CTGTATCAGCGACATGATTAA	0.343																																					p.D206N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616A	8						.						85.0	84.0	85.0					8																	56864653		2203	4300	6503	57027207	SO:0001583	missense	4067	exon7			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.616G>A	8.37:g.56864653G>A	ENSP00000428924:p.Asp206Asn		57027207	NM_002350	A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273124	0.80580	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.28255	1.62;1.62	6.01	6.01	0.97437	SH2 motif (5);	0.170298	0.64402	D	0.000005	T	0.45074	0.1324	M	0.79614	2.46	0.46437	D	0.99904	P;B	0.42518	0.782;0.399	B;B	0.42625	0.393;0.305	T	0.46898	-0.9158	10	0.66056	D	0.02	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	276;206	Q6NUK7;P07948	.;LYN_HUMAN	N	206;185	ENSP00000428924:D206N;ENSP00000428424:D185N	ENSP00000428924:D206N	D	+	1	0	LYN	57027207	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.252000	0.78309	2.861000	0.98227	0.650000	0.86243	GAC		0.343	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350	
CA8	767	broad.mit.edu	37	8	61135236	61135236	+	Missense_Mutation	SNP	C	C	T	rs387906598		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:61135236C>T	ENST00000317995.4	-	7	974	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	237					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R237Q(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TAAAGGGTATCGGAATAATAT	0.463																																					p.R237Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G710A	8						.						102.0	94.0	97.0					8																	61135236		2203	4300	6503	61297790	SO:0001583	missense	767	exon7			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.710G>A	8.37:g.61135236C>T	ENSP00000314407:p.Arg237Gln		61297790	NM_004056	A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014255	0.93404	.	.	ENSG00000178538	ENST00000317995	T	0.69175	-0.38	5.89	5.89	0.94794	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	L	0.46885	1.475	0.80722	D	1	B	0.21905	0.062	B	0.17098	0.017	T	0.61138	-0.7123	10	0.87932	D	0	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	237	P35219	CAH8_HUMAN	Q	237	ENSP00000314407:R237Q	ENSP00000314407:R237Q	R	-	2	0	CA8	61297790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.582000	0.82546	2.783000	0.95769	0.655000	0.94253	CGA		0.463	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1		
CHD7	55636	broad.mit.edu	37	8	61768589	61768589	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:61768589A>G	ENST00000423902.2	+	33	7471	c.6992A>G	c.(6991-6993)aAa>aGa	p.K2331R	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2331					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K2331R(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTGAAAGGCAAATGGCCAGTA	0.468																																					p.K2331R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6992G	8						.						44.0	44.0	44.0					8																	61768589		1883	4112	5995	61931143	SO:0001583	missense	55636	exon33			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6992A>G	8.37:g.61768589A>G	ENSP00000392028:p.Lys2331Arg		61931143	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	34	5.406413	0.96051	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.86097	-2.07	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.92358	0.7575	M	0.79805	2.47	0.58432	D	0.999991	D	0.63880	0.993	D	0.70935	0.971	D	0.93106	0.6512	10	0.66056	D	0.02	-22.1011	16.1832	0.81925	1.0:0.0:0.0:0.0	.	2331	Q9P2D1	CHD7_HUMAN	R	2331	ENSP00000392028:K2331R	ENSP00000307304:K2331R	K	+	2	0	CHD7	61931143	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.218000	0.71995	0.533000	0.62120	AAA		0.468	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
NKAIN3	286183	broad.mit.edu	37	8	63502279	63502279	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:63502279G>C	ENST00000523211.1	+	3	331	c.199G>C	c.(199-201)Gtg>Ctg	p.V67L	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V67L	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V67L(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTAGTATACAGTGTGGACTGC	0.363																																					p.V67L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199C	8						.						122.0	112.0	115.0					8																	63502279		1832	4093	5925	63664833	SO:0001583	missense	286183	exon3			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.199G>C	8.37:g.63502279G>C	ENSP00000429073:p.Val67Leu		63664833	NM_173688		Missense_Mutation	SNP	ENST00000523211.1	37	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256059	0.39896	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.17213	2.29;2.29	5.69	3.9	0.45041	.	0.180335	0.38663	N	0.001603	T	0.11580	0.0282	L	0.28344	0.845	0.39577	D	0.969376	B	0.15719	0.014	B	0.20577	0.03	T	0.11036	-1.0604	10	0.33141	T	0.24	-21.3171	8.4286	0.32744	0.2309:0.0:0.7691:0.0	.	67	Q8N8D7	NKAI3_HUMAN	L	67	ENSP00000429073:V67L;ENSP00000333627:V67L	ENSP00000333627:V67L	V	+	1	0	NKAIN3	63664833	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.502000	0.60400	1.425000	0.47237	0.650000	0.86243	GTG		0.363	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688	
YTHDF3	253943	broad.mit.edu	37	8	64087909	64087909	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:64087909G>A	ENST00000517371.1	+	3	293	c.69G>A	c.(67-69)tcG>tcA	p.S23S	YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000539294.1_Silent_p.S23S|YTHDF3_ENST00000521674.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	23							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AAAACGGTTCGATTCATCAAA	0.308																																					p.S23S												.	.	0			c.G69A	8						.						79.0	75.0	76.0					8																	64087909		1839	4075	5914	64250463	SO:0001819	synonymous_variant	253943	exon3			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.69G>A	8.37:g.64087909G>A			64250463	NM_152758	B3KXL4|Q63Z37|Q659A3	Silent	SNP	ENST00000517371.1	37																																																																																					0.308	YTHDF3-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000378466.4	NM_152758	
DNAJC5B	85479	broad.mit.edu	37	8	67012234	67012234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:67012234G>T	ENST00000276570.5	+	6	855	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	190						membrane (GO:0016020)		p.E190*(1)		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)			GCTAATCAAAGAAGGATCTCG	0.423																																					p.E190X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G568T	8						.						124.0	113.0	117.0					8																	67012234		2203	4300	6503	67174788	SO:0001587	stop_gained	85479	exon6			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.568G>T	8.37:g.67012234G>T	ENSP00000276570:p.Glu190*		67174788	NM_033105	Q969Y8	Nonsense_Mutation	SNP	ENST00000276570.5	37	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894025	0.72639	.	.	ENSG00000147570	ENST00000276570	.	.	.	5.87	5.87	0.94306	.	0.087753	0.52532	D	0.000071	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.6971	0.77509	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000276570:E190X	E	+	1	0	DNAJC5B	67174788	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	5.204000	0.65180	2.776000	0.95493	0.585000	0.79938	GAA		0.423	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105	
CSPP1	79848	broad.mit.edu	37	8	68049694	68049694	+	Missense_Mutation	SNP	C	C	T	rs527674289		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:68049694C>T	ENST00000262210.5	+	15	1847	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	CSPP1_ENST00000412460.1_Missense_Mutation_p.R312W	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	641					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.R606W(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTCAAGATTCGGGAAAGAGA	0.308																																					p.R606W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1816T	8						.						50.0	46.0	47.0					8																	68049694		1805	4069	5874	68212248	SO:0001583	missense	79848	exon15			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1816C>T	8.37:g.68049694C>T	ENSP00000262210:p.Arg606Trp		68212248	NM_024790	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810737	0.70797	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.64803	-0.12;-0.12;-0.12	5.36	3.38	0.38709	.	0.416111	0.19149	N	0.121486	T	0.67711	0.2922	L	0.50333	1.59	0.23430	N	0.997695	D;D;D;D	0.76494	0.999;0.998;0.998;0.995	P;P;P;P	0.55667	0.781;0.736;0.736;0.736	T	0.61618	-0.7026	10	0.87932	D	0	-0.4084	13.24	0.59992	0.3856:0.6144:0.0:0.0	.	312;606;641;641	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	W	606;641;312;312	ENSP00000262210:R606W;ENSP00000415782:R312W;ENSP00000430092:R312W	ENSP00000262210:R606W	R	+	1	2	CSPP1	68212248	0.979000	0.34478	0.983000	0.44433	0.987000	0.75469	1.258000	0.32944	1.328000	0.45358	0.460000	0.39030	CGG		0.308	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
CSPP1	79848	broad.mit.edu	37	8	68071253	68071253	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:68071253C>T	ENST00000262210.5	+	19	2435	c.2404C>T	c.(2404-2406)Cgg>Tgg	p.R802W	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R457W	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	837	Glu-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.R802W(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGAGCATATTCGGTTAGCTga	0.308																																					p.R802W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2404T	8						.						55.0	56.0	56.0					8																	68071253		1797	4064	5861	68233807	SO:0001583	missense	79848	exon19			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2404C>T	8.37:g.68071253C>T	ENSP00000262210:p.Arg802Trp		68233807	NM_024790	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986991	0.74589	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.42513	0.97;1.35;1.35	5.06	4.12	0.48240	.	0.245025	0.32372	N	0.006198	T	0.50514	0.1620	L	0.29908	0.895	0.36311	D	0.857644	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.83275	0.996;0.855;0.855	T	0.60332	-0.7284	10	0.87932	D	0	-5.6882	12.3803	0.55303	0.2474:0.7526:0.0:0.0	.	457;802;837	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	W	802;837;457;457	ENSP00000262210:R802W;ENSP00000415782:R457W;ENSP00000430092:R457W	ENSP00000262210:R802W	R	+	1	2	CSPP1	68233807	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.582000	0.36568	2.520000	0.84964	0.557000	0.71058	CGG		0.308	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
ARFGEF1	10565	broad.mit.edu	37	8	68116980	68116980	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:68116980C>T	ENST00000262215.3	-	35	5283	c.4894G>A	c.(4894-4896)Gac>Aac	p.D1632N	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.D470N|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D1086N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1632					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.D1632N(2)		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)			ACAATGTTGTCGATAGTCTGG	0.443																																					p.D1632N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4894A	8						.						151.0	129.0	136.0					8																	68116980		2203	4300	6503	68279534	SO:0001583	missense	10565	exon35			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.4894G>A	8.37:g.68116980C>T	ENSP00000262215:p.Asp1632Asn		68279534	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778546	0.70107	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.59502	0.26;0.26;0.26	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.38692	1.165	0.80722	D	1	D;B;D	0.89917	1.0;0.058;0.986	D;B;P	0.97110	1.0;0.012;0.548	T	0.60672	-0.7217	10	0.23891	T	0.37	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	1632;456;1086	Q9Y6D6;B3KMS9;E5RIF2	BIG1_HUMAN;.;.	N	1086;1632;470	ENSP00000428429:D1086N;ENSP00000262215:D1632N;ENSP00000430891:D470N	ENSP00000262215:D1632N	D	-	1	0	ARFGEF1	68279534	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GAC		0.443	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
ARFGEF1	10565	broad.mit.edu	37	8	68211527	68211527	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:68211527A>T	ENST00000262215.3	-	4	765	c.376T>A	c.(376-378)Tta>Ata	p.L126I		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	126	DCB; DCB:DCB domain and DCB:HUS domain interaction.				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.L126I(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)			CTATCAATTAATTTTTTGCCT	0.358																																					p.L126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T376A	8						.						66.0	65.0	65.0					8																	68211527		2203	4300	6503	68374081	SO:0001583	missense	10565	exon4			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.376T>A	8.37:g.68211527A>T	ENSP00000262215:p.Leu126Ile		68374081	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061685	0.76187	.	.	ENSG00000066777	ENST00000262215	T	0.34667	1.35	5.15	1.33	0.21861	Armadillo-type fold (1);	0.073717	0.53938	D	0.000049	T	0.54679	0.1873	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50242	-0.8851	10	0.56958	D	0.05	.	6.1724	0.20424	0.6079:0.1255:0.2666:0.0	.	126	Q9Y6D6	BIG1_HUMAN	I	126	ENSP00000262215:L126I	ENSP00000262215:L126I	L	-	1	2	ARFGEF1	68374081	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.472000	0.45136	0.046000	0.15833	0.533000	0.62120	TTA		0.358	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
C8orf34	116328	broad.mit.edu	37	8	69621276	69621276	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:69621276T>G	ENST00000539993.1	+	9	1580	c.1031T>G	c.(1030-1032)aTa>aGa	p.I344R	C8orf34_ENST00000518698.1_Missense_Mutation_p.I430R|C8orf34_ENST00000325233.3_Missense_Mutation_p.I88R|C8orf34_ENST00000337103.4_Missense_Mutation_p.I319R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	344								p.I319R(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)			TCACTACCAATACTCCATTCT	0.323																																					p.I430R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1289G	8						.						81.0	77.0	79.0					8																	69621276		2203	4300	6503	69783830	SO:0001583	missense	116328	exon9			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.1031T>G	8.37:g.69621276T>G	ENSP00000438159:p.Ile344Arg		69783830	NM_052958	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	T	0.455	-0.891712	0.02491	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.44083	0.93;0.97;0.97;0.98	5.31	2.91	0.33838	.	0.790411	0.12250	N	0.485738	T	0.18718	0.0449	N	0.03608	-0.345	0.09310	N	1	B	0.27791	0.189	B	0.28709	0.093	T	0.27434	-1.0074	9	.	.	.	0.003	7.2724	0.26264	0.0:0.1782:0.0:0.8218	.	344	Q49A92	CH034_HUMAN	R	430;344;319;88	ENSP00000427820:I430R;ENSP00000438159:I344R;ENSP00000337174:I319R;ENSP00000319532:I88R	.	I	+	2	0	C8orf34	69783830	0.003000	0.15002	0.019000	0.16419	0.329000	0.28539	0.222000	0.17699	0.406000	0.25560	0.533000	0.62120	ATA		0.323	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	
SULF1	23213	broad.mit.edu	37	8	70498702	70498702	+	Missense_Mutation	SNP	C	C	T	rs200127043		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:70498702C>T	ENST00000260128.4	+	7	1240	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	SULF1_ENST00000419716.3_Missense_Mutation_p.R175C|SULF1_ENST00000402687.4_Missense_Mutation_p.R175C|SULF1_ENST00000458141.2_Missense_Mutation_p.R175C	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	175					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.R175C(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)			CACTGTTTGTCGCAATGGCAT	0.388																																					p.R175C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C523T	8						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	117.0	123.0	121.0		523,523,523,523	5.9	1.0	8		121	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	SULF1	NM_001128204.1,NM_001128205.1,NM_001128206.1,NM_015170.2	180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	175/872,175/872,175/872,175/872	70498702	2,13004	2203	4300	6503	70661256	SO:0001583	missense	23213	exon7			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.523C>T	8.37:g.70498702C>T	ENSP00000260128:p.Arg175Cys		70661256	NM_001128205	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811774	0.90707	0.0	2.33E-4	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.86	5.86	0.93980	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.145914	0.64402	D	0.000008	D	0.97470	0.9172	M	0.86028	2.79	0.80722	D	1	P	0.44380	0.834	B	0.31686	0.134	D	0.97067	0.9775	10	0.38643	T	0.18	.	14.9607	0.71156	0.1427:0.8573:0.0:0.0	.	175	Q8IWU6	SULF1_HUMAN	C	175	ENSP00000403040:R175C;ENSP00000260128:R175C;ENSP00000385704:R175C;ENSP00000390315:R175C	ENSP00000260128:R175C	R	+	1	0	SULF1	70661256	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.907000	0.69908	2.774000	0.95407	0.650000	0.86243	CGC		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
NCOA2	10499	broad.mit.edu	37	8	71040742	71040742	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:71040742G>A	ENST00000452400.2	-	18	3788	c.3607C>T	c.(3607-3609)Cgc>Tgc	p.R1203C	NCOA2_ENST00000267974.4_Missense_Mutation_p.R291C	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1203					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	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)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.R1203C(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGTGGCTGGCGATTCTAAATA	0.398			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.R1203C			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3607T	8						.						61.0	62.0	62.0					8																	71040742		1955	4151	6106	71203296	SO:0001583	missense	10499	exon18			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3607C>T	8.37:g.71040742G>A	ENSP00000399968:p.Arg1203Cys		71203296	NM_006540	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852969	0.91355	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	T;T	0.13778	4.04;2.56	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66084	0.941;0.694	T	0.20874	-1.0262	10	0.87932	D	0	.	19.2729	0.94018	0.0:0.0:1.0:0.0	.	291;1203	F8WAJ2;Q15596	.;NCOA2_HUMAN	C	1203;291	ENSP00000399968:R1203C;ENSP00000267974:R291C	ENSP00000267974:R291C	R	-	1	0	NCOA2	71203296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.261000	0.78400	2.542000	0.85734	0.655000	0.94253	CGC		0.398	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
NCOA2	10499	broad.mit.edu	37	8	71060638	71060638	+	Silent	SNP	C	C	T	rs202019914		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:71060638C>T	ENST00000452400.2	-	12	2656	c.2475G>A	c.(2473-2475)acG>acA	p.T825T	NCOA2_ENST00000267974.4_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	825					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	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)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.T825T(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CGCCTGGCCTCGTGTCTGGGA	0.507			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T825T			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2475A	8						.						123.0	124.0	123.0					8																	71060638		1936	4153	6089	71223192	SO:0001819	synonymous_variant	10499	exon12			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2475G>A	8.37:g.71060638C>T		1127	71223192	NM_006540	Q14CD2	Silent	SNP	ENST00000452400.2	37	CCDS47872.1																																																																																				0.507	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
TRAM1	23471	broad.mit.edu	37	8	71495488	71495488	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:71495488C>T	ENST00000262213.2	-	10	1131	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	TRAM1_ENST00000521049.1_5'Flank|TRAM1_ENST00000521425.1_Missense_Mutation_p.R235Q|TRAM1_ENST00000536748.1_Missense_Mutation_p.R290Q	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	321	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				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.R321Q(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)			CCTCCACCTTCGAAGCTGAAA	0.378																																					p.R321Q	Ovarian(85;984 1334 5116 12432 40638)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	8						.						118.0	107.0	111.0					8																	71495488		2203	4300	6503	71658042	SO:0001583	missense	23471	exon10			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.962G>A	8.37:g.71495488C>T	ENSP00000262213:p.Arg321Gln		71658042	NM_014294	B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617014	0.66672	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	T;T;T	0.48522	0.81;1.41;1.41	5.08	5.08	0.68730	TRAM/LAG1/CLN8 homology domain (2);	0.053595	0.85682	D	0.000000	T	0.37376	0.1001	L	0.31578	0.945	0.80722	D	1	B	0.23442	0.085	B	0.14578	0.011	T	0.12167	-1.0558	10	0.20046	T	0.44	.	18.6681	0.91499	0.0:1.0:0.0:0.0	.	321	Q15629	TRAM1_HUMAN	Q	235;321;290	ENSP00000428052:R235Q;ENSP00000262213:R321Q;ENSP00000439359:R290Q	ENSP00000262213:R321Q	R	-	2	0	TRAM1	71658042	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.912000	0.69948	2.654000	0.90174	0.563000	0.77884	CGA		0.378	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	
EYA1	2138	broad.mit.edu	37	8	72182051	72182051	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:72182051A>G	ENST00000340726.3	-	11	1613	c.974T>C	c.(973-975)tTc>tCc	p.F325S	EYA1_ENST00000388740.3_Missense_Mutation_p.F292S|EYA1_ENST00000388742.4_Missense_Mutation_p.F325S|EYA1_ENST00000388741.2_Missense_Mutation_p.F291S|EYA1_ENST00000388743.2_Missense_Mutation_p.F324S|EYA1_ENST00000419131.1_Missense_Mutation_p.F320S|EYA1_ENST00000303824.7_Missense_Mutation_p.F319S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	325					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.F325S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTCCCAGATGAACACTCTCTA	0.433																																					p.F292S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T875C	8	GRCh37	CI972601	EYA1	I		.						156.0	140.0	145.0					8																	72182051		2203	4300	6503	72344605	SO:0001583	missense	2138	exon9			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.974T>C	8.37:g.72182051A>G	ENSP00000342626:p.Phe325Ser		72344605	NM_172060	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727243	0.89390	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-1.58	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.81942	2.565	0.80722	D	1	D;D;D;P;P	0.60160	0.983;0.987;0.987;0.952;0.891	P;D;D;P;P	0.65874	0.802;0.939;0.911;0.639;0.812	D	0.99260	1.0890	10	0.87932	D	0	-18.313	16.2479	0.82454	1.0:0.0:0.0:0.0	.	319;252;292;325;320	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	S	325;325;293;292;319;291;324;320	ENSP00000373394:F325S;ENSP00000342626:F325S;ENSP00000373392:F292S;ENSP00000303221:F319S;ENSP00000373393:F291S;ENSP00000373395:F324S;ENSP00000410176:F320S	ENSP00000303221:F319S	F	-	2	0	EYA1	72344605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.904000	0.92590	2.241000	0.73720	0.533000	0.62120	TTC		0.433	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
TRPA1	8989	broad.mit.edu	37	8	72964989	72964989	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:72964989A>G	ENST00000262209.4	-	14	1863	c.1656T>C	c.(1654-1656)ctT>ctC	p.L552L	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	552					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.L552L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGCAAAGTGAAGTGCAGTGT	0.463																																					p.L552L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1656C	8						.						115.0	98.0	104.0					8																	72964989		2203	4300	6503	73127543	SO:0001819	synonymous_variant	8989	exon14			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1656T>C	8.37:g.72964989A>G			73127543	NM_007332	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.463	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
KCNB2	9312	broad.mit.edu	37	8	73850089	73850089	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:73850089C>T	ENST00000523207.1	+	3	3087	c.2499C>T	c.(2497-2499)tgC>tgT	p.C833C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	833					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.C833C(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)	GCCCAAATTGCTTTGCAGATA	0.532																																					p.C833C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2499T	8						.						81.0	80.0	80.0					8																	73850089		2203	4300	6503	74012643	SO:0001819	synonymous_variant	9312	exon3			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.2499C>T	8.37:g.73850089C>T			74012643	NM_004770	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																				0.532	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
RPL7	6129	broad.mit.edu	37	8	74204972	74204972	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:74204972G>A	ENST00000352983.2	-	2	360	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RPL7_ENST00000396465.1_5'UTR|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	25	4 X 12 AA tandem repeats.				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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F25F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			TCAGCTCTGCGAAATTCCTTC	0.403																																					p.F25F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C75T	8						.						69.0	78.0	75.0					8																	74204972		2203	4297	6500	74367526	SO:0001819	synonymous_variant	6129	exon2			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.75C>T	8.37:g.74204972G>A			74367526	NM_000971	A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Silent	SNP	ENST00000352983.2	37	CCDS6212.1																																																																																				0.403	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971	
STAU2	27067	broad.mit.edu	37	8	74526182	74526182	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:74526182C>T	ENST00000521451.1	-	4	404	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	STAU2_ENST00000522509.1_Missense_Mutation_p.E198K|STAU2_ENST00000522695.1_Missense_Mutation_p.E198K|STAU2_ENST00000521727.1_Missense_Mutation_p.E210K|STAU2_ENST00000517542.1_Missense_Mutation_p.E192K|STAU2_ENST00000524300.1_Missense_Mutation_p.E230K|STAU2_ENST00000523558.1_Missense_Mutation_p.E58K|STAU2_ENST00000355780.5_Missense_Mutation_p.E198K|STAU2_ENST00000521210.1_Missense_Mutation_p.E126K|STAU2_ENST00000519961.1_Missense_Mutation_p.E230K			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	230	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.E198K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GGTCCACTTTCTTTAATAACC	0.323																																					p.E58K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172A	8						.						39.0	37.0	38.0					8																	74526182		2203	4299	6502	74688736	SO:0001583	missense	27067	exon4			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.28G>A	8.37:g.74526182C>T	ENSP00000428476:p.Glu10Lys		74688736	NM_001164383	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.593734	0.96602	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447	T;T;T;T;T;T;T;T;T;T;T;T	0.78816	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.21	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;0.999;0.998;0.997;0.999;1.0	D;D;D;D;D;D;D;D	0.87578	0.996;0.998;0.985;0.998;0.994;0.992;0.995;0.994	D	0.90808	0.4699	10	0.51188	T	0.08	-12.4289	20.0835	0.97793	0.0:1.0:0.0:0.0	.	210;126;58;126;198;230;198;230	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	K	198;230;58;126;198;230;210;10;198;192;58;198	ENSP00000428456:E198K;ENSP00000428756:E230K;ENSP00000428741:E58K;ENSP00000429173:E126K;ENSP00000348026:E198K;ENSP00000430907:E230K;ENSP00000429973:E210K;ENSP00000428476:E10K;ENSP00000427977:E198K;ENSP00000431111:E192K;ENSP00000429005:E58K;ENSP00000428829:E198K	ENSP00000344030:E58K	E	-	1	0	STAU2	74688736	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.577000	0.82486	2.822000	0.97130	0.563000	0.77884	GAA		0.323	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380	
HNF4G	3174	broad.mit.edu	37	8	76463719	76463719	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:76463719G>A	ENST00000354370.1	+	5	608	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	HNF4G_ENST00000396423.2_Missense_Mutation_p.R150Q			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	113					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	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)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GCTGAAGTTCGGTCTCGCCAG	0.423																																					p.R150Q												.	.	0			c.G449A	8						.						128.0	97.0	107.0					8																	76463719		2203	4300	6503	76626274	SO:0001583	missense	3174	exon4				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.338G>A	8.37:g.76463719G>A	ENSP00000346339:p.Arg113Gln		76626274	NM_004133	Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37		.	.	.	.	.	.	.	.	.	.	G	17.11	3.304376	0.60305	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.94376	-3.41;-3.41	5.07	4.11	0.48088	Nuclear hormone receptor, ligand-binding (2);	0.183765	0.46145	D	0.000304	D	0.87752	0.6256	L	0.29908	0.895	0.44834	D	0.99784	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.82752	-0.0302	10	0.39692	T	0.17	.	10.82	0.46599	0.0:0.0:0.41:0.5899	.	150;113	F1D8Q4;Q14541	.;HNF4G_HUMAN	Q	113;150	ENSP00000346339:R113Q;ENSP00000379701:R150Q	ENSP00000346339:R113Q	R	+	2	0	HNF4G	76626274	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.653000	0.74382	1.173000	0.42796	0.650000	0.86243	CGG		0.423	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133	
ZFHX4	79776	broad.mit.edu	37	8	77690641	77690641	+	Silent	SNP	C	C	A	rs375999260		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:77690641C>A	ENST00000521891.2	+	4	3739	c.3291C>A	c.(3289-3291)atC>atA	p.I1097I	ZFHX4_ENST00000455469.2_Silent_p.I1071I|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Silent_p.I1071I|ZFHX4_ENST00000050961.6_Silent_p.I1071I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1071					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.I1097I(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)			TCAGTGAGATCTTTTTTGTTA	0.532										HNSCC(33;0.089)																											p.I1097I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3291A	8						.						113.0	122.0	119.0					8																	77690641		1994	4168	6162	77853196	SO:0001819	synonymous_variant	79776	exon4				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.3291C>A	8.37:g.77690641C>A			77853196	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
IL7	3574	broad.mit.edu	37	8	79652274	79652274	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:79652274A>C	ENST00000263851.4	-	3	791	c.191T>G	c.(190-192)tTt>tGt	p.F64C	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Missense_Mutation_p.F64C|IL7_ENST00000541183.1_Missense_Mutation_p.F13C	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	64					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)	p.F64C(1)		endometrium(2)|large_intestine(2)|lung(1)	5						AAAAAAGTTAAATTCATTATT	0.259																																					p.F64C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T191G	8						.						45.0	47.0	46.0					8																	79652274		2196	4274	6470	79814829	SO:0001583	missense	3574	exon3			J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.191T>G	8.37:g.79652274A>C	ENSP00000263851:p.Phe64Cys		79814829	NM_001199887	A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.737184	0.30774	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.44482	0.92;0.92;0.92	5.02	2.04	0.26737	.	1.147940	0.06450	N	0.727483	T	0.28928	0.0718	N	0.14661	0.345	0.80722	D	1	P;P	0.49783	0.826;0.928	P;P	0.46629	0.482;0.522	T	0.24154	-1.0168	9	.	.	.	.	3.7743	0.08654	0.2054:0.0:0.6037:0.1909	.	64;64	P13232;Q5FBY9	IL7_HUMAN;.	C	64;64;61;13	ENSP00000263851:F64C;ENSP00000427750:F64C;ENSP00000438922:F13C	.	F	-	2	0	IL7	79814829	1.000000	0.71417	0.987000	0.45799	0.866000	0.49608	0.679000	0.25291	0.800000	0.34041	-0.468000	0.05107	TTT		0.259	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1		
IMPA1	3612	broad.mit.edu	37	8	82583228	82583228	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:82583228G>T	ENST00000256108.5	-	7	977	c.512C>A	c.(511-513)aCt>aAt	p.T171N	IMPA1_ENST00000311489.4_Intron|IMPA1_ENST00000449740.2_Missense_Mutation_p.T230N|IMPA1_ENST00000523710.1_5'UTR	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	171					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)	p.T171N(1)		NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CATTCTCACAGTCTCTGGTGT	0.353																																					p.T171N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512A	8						.						76.0	73.0	74.0					8																	82583228		2203	4300	6503	82745783	SO:0001583	missense	3612	exon7				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.512C>A	8.37:g.82583228G>T	ENSP00000256108:p.Thr171Asn		82745783	NM_005536	B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.737|3.737	-0.054276|-0.054276	0.07362|0.07362	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000523942|ENST00000256108;ENST00000449740;ENST00000519964;ENST00000521360	.|T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54	4.16|4.16	2.16|2.16	0.27623|0.27623	.|.	.|0.934648	.|0.09101	.|N	.|0.848476	T|T	0.36413|0.36413	0.0966|0.0966	N|N	0.20610|0.20610	0.595|0.595	0.24399|0.24399	N|N	0.994713|0.994713	.|B;B	.|0.17268	.|0.021;0.002	.|B;B	.|0.19148	.|0.024;0.004	T|T	0.24728|0.24728	-1.0152|-1.0152	5|10	.|0.27785	.|T	.|0.31	-3.07|-3.07	9.1163|9.1163	0.36760|0.36760	0.2832:0.0:0.7168:0.0|0.2832:0.0:0.7168:0.0	.|.	.|230;171	.|B7Z6Q4;P29218	.|.;IMPA1_HUMAN	E|N	195|171;230;163;136	.|ENSP00000256108:T171N;ENSP00000408526:T230N;ENSP00000429322:T163N;ENSP00000430283:T136N	.|ENSP00000256108:T171N	D|T	-|-	3|2	2|0	IMPA1|IMPA1	82745783|82745783	0.920000|0.920000	0.31207|0.31207	0.611000|0.611000	0.29010|0.29010	0.080000|0.080000	0.17528|0.17528	2.016000|2.016000	0.40971|0.40971	0.752000|0.752000	0.32923|0.32923	-0.402000|-0.402000	0.06365|0.06365	GAC|ACT		0.353	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1		
PSKH2	85481	broad.mit.edu	37	8	87060823	87060823	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:87060823C>T	ENST00000276616.2	-	3	1100	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	342							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q342Q(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GAGAGGCCCTCTGCATGAGGT	0.527																																					p.Q342Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1026A	8						.						108.0	113.0	111.0					8																	87060823		2203	4300	6503	87129939	SO:0001819	synonymous_variant	85481	exon3			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.1026G>A	8.37:g.87060823C>T			87129939	NM_033126	A0AV22	Silent	SNP	ENST00000276616.2	37	CCDS6240.1																																																																																				0.527	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126	
SLC7A13	157724	broad.mit.edu	37	8	87242285	87242285	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:87242285G>A	ENST00000297524.3	-	1	325	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SLC7A13_ENST00000419776.2_Silent_p.F74F|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	74						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.F74F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CACTGCATGGGAAGCTTATAC	0.483																																					p.F74F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222T	8						.						66.0	63.0	64.0					8																	87242285		2203	4300	6503	87311401	SO:0001819	synonymous_variant	157724	exon1			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.222C>T	8.37:g.87242285G>A			87311401	NM_138817	Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	CCDS34917.1																																																																																				0.483	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	
CNBD1	168975	broad.mit.edu	37	8	88218352	88218352	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:88218352T>C	ENST00000518476.1	+	5	614	c.563T>C	c.(562-564)tTg>tCg	p.L188S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	188								p.L188S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAAACCTGGTTGAAAGGCAGC	0.363																																					p.L188S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T563C	8						.						75.0	71.0	72.0					8																	88218352		1852	4102	5954	88287468	SO:0001583	missense	168975	exon5			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.563T>C	8.37:g.88218352T>C	ENSP00000430073:p.Leu188Ser		88287468	NM_173538		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	T	1.122	-0.655096	0.03480	.	.	ENSG00000176571	ENST00000518476	D	0.96491	-4.03	5.29	2.89	0.33648	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	1.724340	0.04050	N	0.304617	D	0.90607	0.7055	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.81722	-0.0803	10	0.09338	T	0.73	-1.0024	7.0803	0.25227	0.0:0.1863:0.0:0.8137	.	188	Q8NA66	CNBD1_HUMAN	S	188	ENSP00000430073:L188S	ENSP00000430073:L188S	L	+	2	0	CNBD1	88287468	0.001000	0.12720	0.226000	0.23910	0.229000	0.25112	0.940000	0.28992	0.870000	0.35726	0.378000	0.23410	TTG		0.363	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
CNBD1	168975	broad.mit.edu	37	8	88296959	88296959	+	Silent	SNP	G	G	A	rs374378962		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:88296959G>A	ENST00000518476.1	+	7	876	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	275								p.S275S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGAATGAATCGGAAACACAGA	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17338	0.0		0.0	False		,,,				2504	0.0				p.S275S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G825A	8						.	G		1,3685		0,1,1842	79.0	74.0	76.0		825	-3.8	0.0	8		76	0,8176		0,0,4088	no	coding-synonymous	CNBD1	NM_173538.2		0,1,5930	AA,AG,GG		0.0,0.0271,0.0084		275/437	88296959	1,11861	1843	4088	5931	88366075	SO:0001819	synonymous_variant	168975	exon7			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.825G>A	8.37:g.88296959G>A			88366075	NM_173538		Silent	SNP	ENST00000518476.1	37	CCDS55259.1																																																																																				0.378	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
RBM12B	389677	broad.mit.edu	37	8	94747423	94747423	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:94747423T>G	ENST00000399300.2	-	3	1429	c.1216A>C	c.(1216-1218)Aat>Cat	p.N406H	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.N406H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	406	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N406H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AATGGAAAATTTCTTATATAG	0.388																																					p.N406H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1216C	8						.						134.0	131.0	132.0					8																	94747423		1830	4091	5921	94816599	SO:0001583	missense	389677	exon3				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1216A>C	8.37:g.94747423T>G	ENSP00000382239:p.Asn406His		94816599	NM_203390	A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.322389	0.60634	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.11604	2.76;2.76	5.36	5.36	0.76844	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000002	T	0.44456	0.1294	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58549	-0.7617	10	0.66056	D	0.02	-35.3984	15.6454	0.77046	0.0:0.0:0.0:1.0	.	406	Q8IXT5	RB12B_HUMAN	H	406	ENSP00000382239:N406H;ENSP00000427729:N406H	ENSP00000382239:N406H	N	-	1	0	RBM12B	94816599	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.655000	0.83696	2.158000	0.67659	0.482000	0.46254	AAT		0.388	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
TMEM67	91147	broad.mit.edu	37	8	94800074	94800074	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:94800074T>C	ENST00000453321.3	+	14	1473	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	TMEM67_ENST00000409623.3_Missense_Mutation_p.V391A	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	472					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.V462A(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)			TTAAATAGTGTCCACCTTGTA	0.348																																					p.V472A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1415C	8						.						152.0	144.0	147.0					8																	94800074		2203	4300	6503	94869250	SO:0001583	missense	91147	exon14			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.1415T>C	8.37:g.94800074T>C	ENSP00000389998:p.Val472Ala		94869250	NM_153704	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652208	0.47362	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623;ENST00000453906	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.59	5.59	0.84812	.	0.113970	0.64402	D	0.000013	D	0.94192	0.8136	L	0.41492	1.28	0.35118	D	0.766774	B;B;B	0.22003	0.022;0.063;0.051	B;B;B	0.27170	0.016;0.077;0.046	D	0.94750	0.7926	10	0.87932	D	0	-9.2279	15.4392	0.75171	0.0:0.0:0.0:1.0	.	472;391;391	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	A	369;472;391;178	ENSP00000388671:V369A;ENSP00000389998:V472A;ENSP00000386966:V391A;ENSP00000403035:V178A	ENSP00000314488:V462A	V	+	2	0	TMEM67	94869250	1.000000	0.71417	0.996000	0.52242	0.236000	0.25371	7.107000	0.77047	2.131000	0.65755	0.455000	0.32223	GTC		0.348	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	
TMEM67	91147	broad.mit.edu	37	8	94809370	94809370	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:94809370A>C	ENST00000453321.3	+	19	1927	c.1869A>C	c.(1867-1869)caA>caC	p.Q623H	TMEM67_ENST00000409623.3_Missense_Mutation_p.Q542H	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	623					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.Q613H(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)			AGGCACTACAATTTTTGCATA	0.333																																					p.Q623H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1869C	8						.						86.0	85.0	85.0					8																	94809370		2203	4300	6503	94878546	SO:0001583	missense	91147	exon19			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.1869A>C	8.37:g.94809370A>C	ENSP00000389998:p.Gln623His		94878546	NM_153704	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794618	0.70452	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97279	-4.32;-4.32	5.63	-0.789	0.10935	.	0.052150	0.85682	D	0.000000	D	0.96911	0.8991	M	0.65975	2.015	0.58432	D	0.999997	D;D;D	0.64830	0.994;0.994;0.992	P;P;P	0.60117	0.869;0.869;0.793	D	0.95148	0.8270	10	0.66056	D	0.02	-8.6012	9.7819	0.40653	0.6561:0.0:0.3439:0.0	.	623;542;542	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	H	623;542	ENSP00000389998:Q623H;ENSP00000386966:Q542H	ENSP00000314488:Q613H	Q	+	3	2	TMEM67	94878546	0.809000	0.29036	0.997000	0.53966	0.942000	0.58702	-0.028000	0.12350	0.075000	0.16796	0.533000	0.62120	CAA		0.333	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	
GEM	2669	broad.mit.edu	37	8	95262610	95262610	+	Silent	SNP	G	G	T	rs201686704		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:95262610G>T	ENST00000297596.2	-	5	1083	c.819C>A	c.(817-819)atC>atA	p.I273I	GEM_ENST00000396194.2_Silent_p.I273I	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	273	Calmodulin-binding. {ECO:0000250}.				cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.I273I(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTTGGCCACGATCTTGCCCC	0.547																																					p.I273I	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C819A	8						.						134.0	118.0	123.0					8																	95262610		2203	4300	6503	95331786	SO:0001819	synonymous_variant	2669	exon5				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.819C>A	8.37:g.95262610G>T			95331786	NM_181702	B2RA31	Silent	SNP	ENST00000297596.2	37	CCDS6261.1																																																																																				0.547	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
GEM	2669	broad.mit.edu	37	8	95264346	95264346	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:95264346G>A	ENST00000297596.2	-	4	778	c.514C>T	c.(514-516)Cga>Tga	p.R172*	GEM_ENST00000396194.2_Nonsense_Mutation_p.R172*	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	172					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.R172*(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGCTGGATTCGCAGCTCAGAT	0.532																																					p.R172X	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C514T	8						.						94.0	84.0	87.0					8																	95264346		2203	4300	6503	95333522	SO:0001587	stop_gained	2669	exon4				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.514C>T	8.37:g.95264346G>A	ENSP00000297596:p.Arg172*		95333522	NM_181702	B2RA31	Nonsense_Mutation	SNP	ENST00000297596.2	37	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	G	38	7.060405	0.98036	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	.	.	.	5.91	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0891	0.64977	0.0:0.0:0.6613:0.3387	.	.	.	.	X	172	.	ENSP00000297596:R172X	R	-	1	2	GEM	95333522	1.000000	0.71417	0.972000	0.41901	0.839000	0.47603	2.930000	0.48924	1.437000	0.47472	0.655000	0.94253	CGA		0.532	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
KIAA1429	25962	broad.mit.edu	37	8	95539124	95539124	+	Missense_Mutation	SNP	C	C	T	rs376403379		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:95539124C>T	ENST00000297591.5	-	8	1423	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	KIAA1429_ENST00000437199.1_Missense_Mutation_p.A450T|KIAA1429_ENST00000421249.2_Missense_Mutation_p.A450T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	450					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A450T(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)			ACATTTAAGGCGATAGGTTGG	0.453																																					p.A450T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1348A	8						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	108.0	103.0	105.0		1348,1348	5.8	1.0	8		105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIAA1429	NM_015496.4,NM_183009.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	450/1813,450/1148	95539124	1,13005	2203	4300	6503	95608300	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.1348G>A	8.37:g.95539124C>T	ENSP00000297591:p.Ala450Thr		95608300	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052168	0.75960	0.0	1.16E-4	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.62498	0.02;0.07;0.04	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.79160	-0.1918	10	0.87932	D	0	-8.7292	20.1588	0.98128	0.0:1.0:0.0:0.0	.	450;450	Q69YN4-4;Q69YN4	.;VIR_HUMAN	T	450	ENSP00000297591:A450T;ENSP00000395600:A450T;ENSP00000398390:A450T	ENSP00000297591:A450T	A	-	1	0	KIAA1429	95608300	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	7.487000	0.81328	2.770000	0.95276	0.563000	0.77884	GCC		0.453	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
KIAA1429	25962	broad.mit.edu	37	8	95543299	95543299	+	Nonsense_Mutation	SNP	C	C	A	rs534276679		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:95543299C>A	ENST00000297591.5	-	6	574	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.E167*|KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.E167*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	167	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E167*(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)			AACTGATCTTCTTTCTCCCCA	0.483																																					p.E167X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G499T	8						.						139.0	128.0	132.0					8																	95543299		2203	4300	6503	95612475	SO:0001587	stop_gained	25962	exon6			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.499G>T	8.37:g.95543299C>A	ENSP00000297591:p.Glu167*		95612475	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	37	6.012030	0.97200	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.24	5.24	0.73138	.	0.059279	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-16.4176	18.8146	0.92072	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000297591:E167X	E	-	1	0	KIAA1429	95612475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.944000	0.75940	2.435000	0.82474	0.585000	0.79938	GAA		0.483	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
INTS8	55656	broad.mit.edu	37	8	95848845	95848845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:95848845G>T	ENST00000523731.1	+	7	980	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.E283*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	283					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.E283*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAGAACCAAAGAACTAATTGC	0.343																																					p.E283X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G847T	8						.						62.0	65.0	64.0					8																	95848845		2203	4300	6503	95918021	SO:0001587	stop_gained	55656	exon7			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.847G>T	8.37:g.95848845G>T	ENSP00000430338:p.Glu283*		95918021	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Nonsense_Mutation	SNP	ENST00000523731.1	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.215486|5.215486	0.95104|0.95104	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.093461|.	0.64402|.	D|.	0.000001|.	.|T	.|0.69314	.|0.3097	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74520	.|-0.3638	.|4	0.72032|0.51188	D|T	0.01|0.08	-17.0666|-17.0666	14.9019|14.9019	0.70687|0.70687	0.0:0.1431:0.8569:0.0|0.0:0.1431:0.8569:0.0	.|.	.|.	.|.	.|.	X|N	283|104	.|.	ENSP00000343274:E283X|ENSP00000430180:K104N	E|K	+|+	1|3	0|2	INTS8|INTS8	95918021|95918021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.206000|7.206000	0.77891|0.77891	2.575000|2.575000	0.86900|0.86900	0.484000|0.484000	0.47621|0.47621	GAA|AAG		0.343	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
INTS8	55656	broad.mit.edu	37	8	95863889	95863889	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:95863889G>A	ENST00000523731.1	+	13	1749	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	INTS8_ENST00000447247.1_Missense_Mutation_p.R539H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	539					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.R539H(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACTTCAGAGCGCCAGTTCTGG	0.368																																					p.R539H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1616A	8						.						96.0	97.0	97.0					8																	95863889		2203	4300	6503	95933065	SO:0001583	missense	55656	exon13			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1616G>A	8.37:g.95863889G>A	ENSP00000430338:p.Arg539His		95933065	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.811102|4.811102	0.90707|0.90707	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.052698	.|0.85682	.|D	.|0.000000	T|T	0.71953|0.71953	0.3401|0.3401	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.69078	.|0.994;0.997	.|P;P	.|0.57152	.|0.799;0.814	T|T	0.75935|0.75935	-0.3142|-0.3142	5|9	.|0.72032	.|D	.|0.01	-12.7115|-12.7115	18.0254|18.0254	0.89268|0.89268	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|539;539	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	T|H	361|539	.|.	.|ENSP00000343274:R539H	A|R	+|+	1|2	0|0	INTS8|INTS8	95933065|95933065	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.925000|0.925000	0.55904|0.55904	8.835000|8.835000	0.92100|0.92100	2.254000|2.254000	0.74563|0.74563	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.368	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
UQCRB	7381	broad.mit.edu	37	8	97244160	97244160	+	Nonsense_Mutation	SNP	G	G	A	rs139851271		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:97244160G>A	ENST00000287022.5	-	3	203	c.100C>T	c.(100-102)Cga>Tga	p.R34*	UQCRB_ENST00000517523.1_Nonsense_Mutation_p.R2*|UQCRB_ENST00000518406.1_Nonsense_Mutation_p.R34*|UQCRB_ENST00000523920.1_Nonsense_Mutation_p.R34*	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	34					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.R34*(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					GTATCATCTCGCATTAACCCT	0.338																																					p.R34X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C100T	8						.	G	stop/ARG,stop/ARG	0,4406		0,0,2203	92.0	86.0	88.0		4,100	0.2	1.0	8	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	UQCRB	NM_001199975.1,NM_006294.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2/80,34/112	97244160	1,13005	2203	4300	6503	97313336	SO:0001587	stop_gained	7381	exon3			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.100C>T	8.37:g.97244160G>A	ENSP00000287022:p.Arg34*		97313336	NM_006294	E5RJU0|Q6FGD1	Nonsense_Mutation	SNP	ENST00000287022.5	37	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418389	0.42918	0.0	1.16E-4	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	.	.	.	5.4	0.226	0.15353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7226	9.2975	0.37824	0.0655:0.0:0.4528:0.4817	.	.	.	.	X	34;2;34;34	.	ENSP00000287022:R34X	R	-	1	2	UQCRB	97313336	1.000000	0.71417	0.993000	0.49108	0.044000	0.14063	1.255000	0.32909	-0.263000	0.09378	-1.088000	0.02184	CGA		0.338	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294	
MTERF3	51001	broad.mit.edu	37	8	97256269	97256269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:97256269G>A	ENST00000287025.3	-	7	1035	c.937C>T	c.(937-939)Caa>Taa	p.Q313*	MTERFD1_ENST00000523821.1_Nonsense_Mutation_p.Q313*|MTERFD1_ENST00000522822.1_Nonsense_Mutation_p.Q192*|MTERFD1_ENST00000524341.1_Intron	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		313					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.Q313*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATCATATGTTGAATTTCGTTA	0.338																																					p.Q313X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C937T	8						.						180.0	174.0	176.0					8																	97256269		2203	4300	6503	97325445	SO:0001587	stop_gained	51001	exon7																														ENST00000287025.3:c.937C>T	8.37:g.97256269G>A	ENSP00000287025:p.Gln313*		97325445	NM_015942	B3KMG6|G3V130|Q9Y301	Nonsense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	G	38	6.739564	0.97801	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000287025	.	.	.	6.16	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-8.1901	15.1784	0.72934	0.0:0.0:0.8591:0.1409	.	.	.	.	X	313;192;313	.	ENSP00000287025:Q313X	Q	-	1	0	MTERFD1	97325445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.402000	0.97298	1.571000	0.49722	0.650000	0.86243	CAA		0.338	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		
CPQ	10404	broad.mit.edu	37	8	98155282	98155282	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:98155282C>A	ENST00000220763.5	+	8	1500	c.1290C>A	c.(1288-1290)ttC>ttA	p.F430L	KB-1958F4.1_ENST00000602771.1_RNA	NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	430					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.F430L(1)									ACAAGTATTTCTTCTTCCATC	0.433																																					p.F430L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1290A	8						.						136.0	128.0	130.0					8																	98155282		2203	4300	6503	98224458	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.1290C>A	8.37:g.98155282C>A	ENSP00000220763:p.Phe430Leu		98224458	NM_016134	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	CCDS6273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835716|4.835716	0.91117|0.91117	.|.	.|.	ENSG00000104324|ENSG00000104324	ENST00000220763|ENST00000522617	T|.	0.48522|.	0.81|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Peptidase M28 (1);|.	0.065986|.	0.64402|.	D|.	0.000015|.	D|D	0.86197|0.86197	0.5875|0.5875	M|M	0.91818|0.91818	3.245|3.245	0.50171|0.50171	D|D	0.999852|0.999852	D|.	0.59357|.	0.985|.	P|.	0.61397|.	0.888|.	D|D	0.88591|0.88591	0.3143|0.3143	10|5	0.25106|.	T|.	0.35|.	-37.722|-37.722	18.784|18.784	0.91946|0.91946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	430|.	Q9Y646|.	PGCP_HUMAN|.	L|Y	430|88	ENSP00000220763:F430L|.	ENSP00000220763:F430L|.	F|S	+|+	3|2	2|0	AC010859.1|AC010859.1	98224458|98224458	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.960000|0.960000	0.62799|0.62799	2.594000|2.594000	0.46189|0.46189	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.433	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
MATN2	4147	broad.mit.edu	37	8	98943563	98943563	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:98943563C>A	ENST00000520016.1	+	2	649	c.525C>A	c.(523-525)gaC>gaA	p.D175E	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.D175E|MATN2_ENST00000524308.1_Missense_Mutation_p.D175E|MATN2_ENST00000254898.5_Missense_Mutation_p.D175E			O00339	MATN2_HUMAN	matrilin 2	175	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.D175E(1)		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)			GACCTCAGGACTCCGTGGCCG	0.577																																					p.D175E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C525A	8						.						37.0	43.0	41.0					8																	98943563		2127	4248	6375	99012739	SO:0001583	missense	4147	exon3			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.525C>A	8.37:g.98943563C>A	ENSP00000430487:p.Asp175Glu		99012739	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076247	0.76415	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.82	3.05	0.35203	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000003	D	0.91734	0.7386	M	0.89840	3.065	0.40516	D	0.980787	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	D	0.91141	0.4945	10	0.66056	D	0.02	-39.4371	6.0251	0.19650	0.0:0.5866:0.0:0.4134	.	175;175;175;175	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	E	175	ENSP00000429977:D175E;ENSP00000254898:D175E;ENSP00000430221:D175E;ENSP00000430487:D175E	ENSP00000254898:D175E	D	+	3	2	MATN2	99012739	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.849000	0.48286	1.476000	0.48215	0.655000	0.94253	GAC		0.577	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
C8orf33	65265	broad.mit.edu	37	8	146278777	146278777	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr8:146278777T>C	ENST00000331434.6	+	4	612	c.498T>C	c.(496-498)taT>taC	p.Y166Y		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	166								p.Y166Y(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	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)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		TTGGAGACTATAGGGCTCAGA	0.572																																					p.Y166Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T498C	8						.						59.0	66.0	64.0					8																	146278777		2203	4300	6503	146249581	SO:0001819	synonymous_variant	65265	exon4				CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.498T>C	8.37:g.146278777T>C			146249581	NM_023080	A6NGC0|Q96BT8	Silent	SNP	ENST00000331434.6	37	CCDS34974.1																																																																																				0.572	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080	
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634																																					p.G79fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.237_238insG	9						.																																			139601363	SO:0001589	frameshift_variant	116225	exon4			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.237dupG	9.37:g.140481548_140481548dupC	ENSP00000298585:p.Gly79fs		139601362	NM_138462	Q5T366	Frame_Shift_Ins	INS	ENST00000298585.2	37	CCDS7048.1																																																																																				0.634	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462	
TBC1D2	55357	broad.mit.edu	37	9	100991355	100991355	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:100991355C>T	ENST00000375064.1	-	5	895	c.857G>A	c.(856-858)cGc>cAc	p.R286H	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R68H|TBC1D2_ENST00000375066.5_Missense_Mutation_p.R286H	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	286					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.R286H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTGTTCTGGCGCTTGGCTTT	0.532																																					p.R286H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G857A	9						.						153.0	126.0	136.0					9																	100991355		2203	4300	6503	100031176	SO:0001583	missense	55357	exon5			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.857G>A	9.37:g.100991355C>T	ENSP00000364205:p.Arg286His		100031176	NM_018421	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		.	.	.	.	.	.	.	.	.	.	C	13.41	2.228226	0.39399	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.14022	2.54;3.01;2.54	4.96	0.685	0.18009	.	1.142240	0.06207	N	0.684334	T	0.14056	0.0340	L	0.57536	1.79	0.80722	D	1	B;B	0.13594	0.005;0.008	B;B	0.06405	0.001;0.002	T	0.22173	-1.0224	10	0.56958	D	0.05	.	3.2073	0.06670	0.3662:0.4284:0.0:0.2054	.	286;286	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	H	286;286;68	ENSP00000364205:R286H;ENSP00000364207:R286H;ENSP00000341567:R68H	ENSP00000341567:R68H	R	-	2	0	TBC1D2	100031176	0.576000	0.26700	0.998000	0.56505	0.975000	0.68041	0.390000	0.20768	0.264000	0.21851	0.655000	0.94253	CGC		0.532	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	
GABBR2	9568	broad.mit.edu	37	9	101151169	101151169	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:101151169A>C	ENST00000259455.2	-	10	1955	c.1496T>G	c.(1495-1497)tTt>tGt	p.F499C		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	499					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.F499C(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)	GAAGAAGAGAAAAGCACTGGC	0.493																																					p.F499C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1496G	9						.						227.0	191.0	203.0					9																	101151169		2203	4300	6503	100190990	SO:0001583	missense	9568	exon10			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.1496T>G	9.37:g.101151169A>C	ENSP00000259455:p.Phe499Cys		100190990	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959808	0.53400	.	.	ENSG00000136928	ENST00000259455	D	0.87966	-2.32	4.83	4.83	0.62350	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	M	0.71296	2.17	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.91708	0.5379	10	0.44086	T	0.13	.	12.6553	0.56784	1.0:0.0:0.0:0.0	.	499	O75899	GABR2_HUMAN	C	499	ENSP00000259455:F499C	ENSP00000259455:F499C	F	-	2	0	GABBR2	100190990	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.000000	0.93564	1.936000	0.56123	0.533000	0.62120	TTT		0.493	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
INVS	27130	broad.mit.edu	37	9	103002492	103002492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:103002492C>T	ENST00000262457.2	+	6	951	c.766C>T	c.(766-768)Cga>Tga	p.R256*	INVS_ENST00000541287.1_Nonsense_Mutation_p.R160*|INVS_ENST00000262456.2_Nonsense_Mutation_p.R256*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	256					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R256*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TAACTTATTTCGAACCCCACT	0.418																																					p.R256X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C766T	9						.						122.0	102.0	109.0					9																	103002492		2203	4300	6503	102042313	SO:0001587	stop_gained	27130	exon6			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.766C>T	9.37:g.103002492C>T	ENSP00000262457:p.Arg256*		102042313	NM_183245	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Nonsense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672026	0.96754	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	.	.	.	5.74	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.443	0.67330	0.2946:0.7053:0.0:0.0	.	.	.	.	X	256;160;256	.	ENSP00000262456:R256X	R	+	1	2	INVS	102042313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.666000	0.46799	0.698000	0.31739	0.650000	0.86243	CGA		0.418	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425	
CYLC2	1539	broad.mit.edu	37	9	105765522	105765522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:105765522C>T	ENST00000374798.3	+	3	227	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	CYLC2_ENST00000487798.1_Nonsense_Mutation_p.Q53*	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	53	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.Q53*(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)				AAAACCTTCTCAAATACGGGA	0.328																																					p.Q53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C157T	9						.						104.0	95.0	98.0					9																	105765522		2203	4300	6503	104805343	SO:0001587	stop_gained	1539	exon3			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.157C>T	9.37:g.105765522C>T	ENSP00000420256:p.Gln53*		104805343	NM_001340	B2R8F4|Q5VVJ9	Nonsense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895532	0.52121	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	.	.	.	4.93	1.67	0.24075	.	0.334742	0.21918	N	0.067211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-26.2413	7.2727	0.26266	0.3711:0.471:0.1579:0.0	.	.	.	.	X	53	.	ENSP00000420256:Q53X	Q	+	1	0	CYLC2	104805343	0.109000	0.22037	0.893000	0.35052	0.220000	0.24768	0.317000	0.19487	0.691000	0.31592	0.591000	0.81541	CAA		0.328	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
OR13C8	138802	broad.mit.edu	37	9	107332340	107332340	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:107332340C>A	ENST00000335040.1	+	1	892	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L298M(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CATCTATAGTCTGCGAAACAA	0.373																																					p.L298M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C892A	9						.						71.0	68.0	69.0					9																	107332340		2203	4300	6503	106372161	SO:0001583	missense	138802	exon1				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.892C>A	9.37:g.107332340C>A	ENSP00000334068:p.Leu298Met		106372161	NM_001004483	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121582	0.56613	.	.	ENSG00000186943	ENST00000335040	T	0.48836	0.8	4.9	3.03	0.35002	.	0.000000	0.44688	D	0.000432	T	0.60064	0.2240	M	0.79258	2.445	0.31457	N	0.67	D	0.56968	0.978	P	0.60286	0.872	T	0.65627	-0.6122	10	0.87932	D	0	.	6.3025	0.21121	0.0:0.7192:0.0:0.2808	.	298	Q8NGS7	O13C8_HUMAN	M	298	ENSP00000334068:L298M	ENSP00000334068:L298M	L	+	1	2	OR13C8	106372161	0.000000	0.05858	0.997000	0.53966	0.987000	0.75469	-1.098000	0.03346	1.397000	0.46682	0.561000	0.74099	CTG		0.373	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
OR13C9	286362	broad.mit.edu	37	9	107380413	107380413	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:107380413A>G	ENST00000259362.1	-	1	72	c.73T>C	c.(73-75)Tta>Cta	p.L25L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L25L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AAAAAGAGTAACTCAAGCCTT	0.403																																					p.L25L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T73C	9						.						129.0	126.0	127.0					9																	107380413		2203	4300	6503	106420234	SO:0001819	synonymous_variant	286362	exon1				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.73T>C	9.37:g.107380413A>G			106420234	NM_001001956	Q6IFL2	Silent	SNP	ENST00000259362.1	37	CCDS35093.1																																																																																				0.403	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1		
ABCA1	19	broad.mit.edu	37	9	107547747	107547747	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:107547747C>T	ENST00000374736.3	-	49	6969	c.6575G>A	c.(6574-6576)aGc>aAc	p.S2192N		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2192					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.S2192N(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)	GGAGAGGATGCTGAATATCCT	0.418																																					p.S2192N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6575A	9	GRCh37	CI003726	ABCA1	I		.						125.0	122.0	123.0					9																	107547747		2203	4300	6503	106587568	SO:0001583	missense	19	exon49			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.6575G>A	9.37:g.107547747C>T	ENSP00000363868:p.Ser2192Asn		106587568	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587180	0.28268	.	.	ENSG00000165029	ENST00000374736	D	0.83250	-1.7	6.0	6.0	0.97389	.	0.086315	0.85682	D	0.000000	T	0.78534	0.4298	L	0.48935	1.535	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.72858	-0.4165	10	0.06891	T	0.86	.	20.5469	0.99278	0.0:1.0:0.0:0.0	.	2192	O95477	ABCA1_HUMAN	N	2192	ENSP00000363868:S2192N	ENSP00000363868:S2192N	S	-	2	0	ABCA1	106587568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.363000	0.52321	2.850000	0.98022	0.650000	0.86243	AGC		0.418	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ABCA1	19	broad.mit.edu	37	9	107555526	107555526	+	Silent	SNP	G	G	A	rs368105002		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:107555526G>A	ENST00000374736.3	-	41	5956	c.5562C>T	c.(5560-5562)ttC>ttT	p.F1854F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1854					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.F1854F(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)	CGGCCATGGCGAAGAGGTTTC	0.498																																					p.F1854F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5562T	9						.	G		0,4406		0,0,2203	151.0	129.0	136.0		5562	-10.8	0.2	9		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA1	NM_005502.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1854/2262	107555526	1,13005	2203	4300	6503	106595347	SO:0001819	synonymous_variant	19	exon41			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.5562C>T	9.37:g.107555526G>A			106595347	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																				0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ABCA1	19	broad.mit.edu	37	9	107599776	107599776	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:107599776T>C	ENST00000374736.3	-	10	1521	c.1127A>G	c.(1126-1128)aAg>aGg	p.K376R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	376					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.K376R(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)	GAGCAGCGGCTTCAGAGCTTT	0.512																																					p.K376R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1127G	9						.						80.0	74.0	76.0					9																	107599776		2203	4300	6503	106639597	SO:0001583	missense	19	exon10			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.1127A>G	9.37:g.107599776T>C	ENSP00000363868:p.Lys376Arg		106639597	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.645412	0.87859	.	.	ENSG00000165029	ENST00000374736	D	0.85773	-2.03	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94637	0.7827	10	0.66056	D	0.02	.	15.5166	0.75830	0.0:0.0:0.0:1.0	.	376	O95477	ABCA1_HUMAN	R	376	ENSP00000363868:K376R	ENSP00000363868:K376R	K	-	2	0	ABCA1	106639597	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.943000	0.70211	2.059000	0.61396	0.533000	0.62120	AAG		0.512	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
SLC44A1	23446	broad.mit.edu	37	9	108118531	108118531	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:108118531A>G	ENST00000374720.3	+	6	786	c.539A>G	c.(538-540)aAc>aGc	p.N180S	SLC44A1_ENST00000374724.1_Missense_Mutation_p.N180S|SLC44A1_ENST00000374723.1_Missense_Mutation_p.N180S|SLC44A1_ENST00000343170.7_5'UTR	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	180					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.N180S(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCTCCTGTGAACATTTCCTGC	0.403																																					p.N180S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A539G	9						.						149.0	136.0	141.0					9																	108118531		2203	4300	6503	107158352	SO:0001583	missense	23446	exon6			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.539A>G	9.37:g.108118531A>G	ENSP00000363852:p.Asn180Ser		107158352	NM_080546	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	A	9.561	1.118502	0.20877	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.08720	3.06;3.07;3.07	5.74	5.74	0.90152	.	0.045245	0.85682	D	0.000000	T	0.06371	0.0164	N	0.13098	0.295	0.80722	D	1	B;B	0.31705	0.336;0.255	B;B	0.35550	0.205;0.078	T	0.40156	-0.9578	10	0.09084	T	0.74	-4.3701	16.0502	0.80755	1.0:0.0:0.0:0.0	.	180;180	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	S	180	ENSP00000363855:N180S;ENSP00000363852:N180S;ENSP00000363856:N180S	ENSP00000363852:N180S	N	+	2	0	SLC44A1	107158352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.197000	0.70478	0.528000	0.53228	AAC		0.403	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
SLC44A1	23446	broad.mit.edu	37	9	108127880	108127880	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:108127880G>A	ENST00000374720.3	+	11	1617	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	SLC44A1_ENST00000374724.1_Missense_Mutation_p.R457Q|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R457Q|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R249Q	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	457					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.R457Q(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AAAATTCCGCGAATGATCCTT	0.408																																					p.R457Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1370A	9						.						129.0	119.0	122.0					9																	108127880		2203	4300	6503	107167701	SO:0001583	missense	23446	exon11			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1370G>A	9.37:g.108127880G>A	ENSP00000363852:p.Arg457Gln		107167701	NM_080546	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	36	5.820665	0.96989	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	M	0.80982	2.52	0.80722	D	1	D;D;P	0.63880	0.983;0.993;0.728	P;P;B	0.51324	0.666;0.666;0.116	T	0.68413	-0.5415	10	0.59425	D	0.04	-2.6169	20.1064	0.97896	0.0:0.0:1.0:0.0	.	457;457;457	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	Q	457;457;457;249	ENSP00000363855:R457Q;ENSP00000363852:R457Q;ENSP00000363856:R457Q;ENSP00000341856:R249Q	ENSP00000341856:R249Q	R	+	2	0	SLC44A1	107167701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.745000	0.94114	0.650000	0.86243	CGA		0.408	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
SLC44A1	23446	broad.mit.edu	37	9	108147780	108147780	+	Silent	SNP	G	G	A	rs560665933		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:108147780G>A	ENST00000374720.3	+	15	2194	c.1947G>A	c.(1945-1947)ccG>ccA	p.P649P	SLC44A1_ENST00000374724.1_Silent_p.P649P|SLC44A1_ENST00000374723.1_Silent_p.P649P|SLC44A1_ENST00000343170.7_Silent_p.P441P	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	649					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.P649P(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGCTAAAGCCGATGGTAGGTG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18803	0.001		0.0	False		,,,				2504	0.0				p.P649P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1947A	9						.						50.0	47.0	48.0					9																	108147780		2196	4295	6491	107187601	SO:0001819	synonymous_variant	23446	exon15			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1947G>A	9.37:g.108147780G>A			107187601	NM_080546	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	ENST00000374720.3	37	CCDS6763.1																																																																																				0.478	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
ZNF462	58499	broad.mit.edu	37	9	109697791	109697791	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:109697791C>T	ENST00000277225.5	+	6	6413	c.6124C>T	c.(6124-6126)Cgc>Tgc	p.R2042C	ZNF462_ENST00000441147.2_Missense_Mutation_p.R948C|ZNF462_ENST00000542028.1_5'UTR|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2102C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2042					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|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.R2042C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGTTTGGATCGCCATATGCA	0.388																																					p.R2042C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6124T	9						.						130.0	118.0	122.0					9																	109697791		2203	4300	6503	108737612	SO:0001583	missense	58499	exon6			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6124C>T	9.37:g.109697791C>T	ENSP00000277225:p.Arg2042Cys		108737612	NM_021224	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593074	0.86953	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.17054	2.3;2.32;2.32;2.32	5.99	5.99	0.97316	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.20140	-1.0284	10	0.62326	D	0.03	.	20.4798	0.99198	0.0:1.0:0.0:0.0	.	2102;2042	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	2042;2102;985;948	ENSP00000277225:R2042C;ENSP00000414570:R2102C;ENSP00000363818:R985C;ENSP00000397306:R948C	ENSP00000277225:R2042C	R	+	1	0	ZNF462	108737612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.562000	0.60816	2.836000	0.97738	0.609000	0.83330	CGC		0.388	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
IKBKAP	8518	broad.mit.edu	37	9	111659285	111659285	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:111659285C>T	ENST00000374647.5	-	24	2842	c.2535G>A	c.(2533-2535)aaG>aaA	p.K845K	IKBKAP_ENST00000537196.1_Silent_p.K496K	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	845					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.K845K(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGTTGTCTTCTTTACATGAG	0.438																																					p.K845K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2535A	9						.						146.0	137.0	140.0					9																	111659285		2203	4300	6503	110699106	SO:0001819	synonymous_variant	8518	exon24			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2535G>A	9.37:g.111659285C>T			110699106	NM_003640	Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	CCDS6773.1																																																																																				0.438	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1		
IKBKAP	8518	broad.mit.edu	37	9	111662604	111662604	+	Missense_Mutation	SNP	C	C	T	rs201742754		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:111662604C>T	ENST00000374647.5	-	19	2373	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	IKBKAP_ENST00000537196.1_Missense_Mutation_p.R340Q	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	689					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.R689Q(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCCACTTTCCGCAGAACTTC	0.458																																					p.R689Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2066A	9						.						152.0	115.0	128.0					9																	111662604		2203	4300	6503	110702425	SO:0001583	missense	8518	exon19			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2066G>A	9.37:g.111662604C>T	ENSP00000363779:p.Arg689Gln		110702425	NM_003640	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215035	0.95104	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.48522	0.81;0.81	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	H	0.94808	3.585	0.50171	D	0.999851	D	0.89917	1.0	D	0.97110	1.0	D	0.84177	0.0437	10	0.87932	D	0	-22.4045	16.6948	0.85332	0.0:1.0:0.0:0.0	.	689	O95163	ELP1_HUMAN	Q	689;340	ENSP00000363779:R689Q;ENSP00000439367:R340Q	ENSP00000363779:R689Q	R	-	2	0	IKBKAP	110702425	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.871000	0.75531	2.607000	0.88179	0.655000	0.94253	CGG		0.458	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1		
EPB41L4B	54566	broad.mit.edu	37	9	112018681	112018681	+	Missense_Mutation	SNP	C	C	T	rs372905406		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:112018681C>T	ENST00000374566.3	-	8	1349	c.832G>A	c.(832-834)Gtt>Att	p.V278I	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.V278I	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	278	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.V278I(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						ACCCTGACAACGTGCATGTCT	0.413																																					p.V278I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G832A	9						.	C	ILE/VAL,ILE/VAL	0,3952		0,0,1976	121.0	118.0	119.0		832,832	4.9	1.0	9		119	1,8315		0,1,4157	no	missense,missense	EPB41L4B	NM_018424.2,NM_019114.3	29,29	0,1,6133	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging,possibly-damaging	278/519,278/901	112018681	1,12267	1976	4158	6134	111058502	SO:0001583	missense	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.832G>A	9.37:g.112018681C>T	ENSP00000363694:p.Val278Ile		111058502	NM_018424	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775916	0.49786	0.0	1.2E-4	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.81821	-1.54;-1.54	5.84	4.94	0.65067	FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.36303	N	0.002680	T	0.61899	0.2384	N	0.11927	0.2	0.37508	D	0.917023	B;B	0.29646	0.134;0.253	B;B	0.24848	0.041;0.056	T	0.62034	-0.6939	10	0.23302	T	0.38	.	9.7632	0.40545	0.1393:0.7909:0.0:0.0698	.	278;278	Q9H329-2;Q9H329	.;E41LB_HUMAN	I	278;278;200	ENSP00000363694:V278I;ENSP00000363685:V278I	ENSP00000311274:V200I	V	-	1	0	EPB41L4B	111058502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.073000	0.41519	1.496000	0.48567	0.655000	0.94253	GTT		0.413	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
PTPN3	5774	broad.mit.edu	37	9	112182813	112182813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:112182813C>A	ENST00000374541.2	-	14	1308	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	PTPN3_ENST00000412145.1_Nonsense_Mutation_p.E271*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.E226*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.E248*|PTPN3_ENST00000394827.3_5'Flank	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	402					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.E402*(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						TAGGTCATTTCATTTGCAAGG	0.507																																					p.E402X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1204T	9						.						144.0	120.0	128.0					9																	112182813		2203	4300	6503	111222634	SO:0001587	stop_gained	5774	exon14				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.1204G>T	9.37:g.112182813C>A	ENSP00000363667:p.Glu402*		111222634	NM_002829	A0AUW9|E7EN99|E9PGU7	Nonsense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	56	25.306165	0.99964	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	.	.	.	5.96	5.96	0.96718	.	0.045907	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	402;271;226;402;248	.	ENSP00000262539:E248X	E	-	1	0	PTPN3	111222634	1.000000	0.71417	0.780000	0.31762	0.996000	0.88848	6.992000	0.76238	2.832000	0.97577	0.655000	0.94253	GAA		0.507	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
KIAA0368	23392	broad.mit.edu	37	9	114145501	114145501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:114145501G>A	ENST00000338205.5	-	34	4012	c.3793C>T	c.(3793-3795)Cga>Tga	p.R1265*	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Nonsense_Mutation_p.R1443*			Q5VYK3	ECM29_HUMAN	KIAA0368	1271					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.R1443*(2)		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						CTGAGGGCTCGAACTTCCGTC	0.473																																					p.R1443X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|prostate(1)	c.C4327T	9						.						63.0	63.0	63.0					9																	114145501		1987	4161	6148	113185322	SO:0001587	stop_gained	23392	exon36			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.3793C>T	9.37:g.114145501G>A	ENSP00000339889:p.Arg1265*		113185322	NM_001080398	O15074|Q8WU82	Nonsense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	G	46	12.747248	0.99693	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1076	0.97898	0.0:0.0:1.0:0.0	.	.	.	.	X	1265;1443;740	.	ENSP00000259335:R1443X	R	-	1	2	KIAA0368	113185322	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.143000	0.94623	2.823000	0.97156	0.650000	0.86243	CGA		0.473	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
KIAA0368	23392	broad.mit.edu	37	9	114192894	114192894	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:114192894T>G	ENST00000338205.5	-	8	1082	c.863A>C	c.(862-864)aAt>aCt	p.N288T	KIAA0368_ENST00000259335.4_Missense_Mutation_p.N466T			Q5VYK3	ECM29_HUMAN	KIAA0368	294					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.N466T(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						GGCAGGATTATTCCAGTCAAT	0.353																																					p.N466T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1397C	9						.						127.0	119.0	122.0					9																	114192894		1834	4087	5921	113232715	SO:0001583	missense	23392	exon10			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.863A>C	9.37:g.114192894T>G	ENSP00000339889:p.Asn288Thr		113232715	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	T	24.4	4.525114	0.85600	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.43294	0.95	5.56	5.56	0.83823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.40270	-0.9572	10	0.26408	T	0.33	.	15.7077	0.77598	0.0:0.0:0.0:1.0	.	294	Q5VYK3	ECM29_HUMAN	T	288;466	ENSP00000259335:N466T	ENSP00000259335:N466T	N	-	2	0	KIAA0368	113232715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.223000	0.78033	2.103000	0.63969	0.460000	0.39030	AAT		0.353	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
ZNF483	158399	broad.mit.edu	37	9	114289976	114289976	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:114289976C>A	ENST00000309235.5	+	2	459	c.301C>A	c.(301-303)Ctg>Atg	p.L101M	ZNF483_ENST00000374374.3_Missense_Mutation_p.L101M|ZNF483_ENST00000358151.4_Missense_Mutation_p.L101M|ZNF483_ENST00000355824.3_Missense_Mutation_p.L101M	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	101	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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.L101M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TGAGCAGTTCCTGACCATTTT	0.468																																					p.L101M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301A	9						.						108.0	117.0	114.0					9																	114289976		2203	4300	6503	113329797	SO:0001583	missense	158399	exon2			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.301C>A	9.37:g.114289976C>A	ENSP00000311679:p.Leu101Met		113329797	NM_001007169	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276597	0.59758	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000374374;ENST00000309235	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.55	2.7	0.31948	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.280175	0.19865	N	0.104328	T	0.37999	0.1024	M	0.86740	2.835	0.20074	N	0.999937	D;D;D;D	0.89917	0.997;1.0;0.997;0.999	D;D;D;D	0.97110	0.975;1.0;0.975;0.986	T	0.10965	-1.0607	10	0.87932	D	0	-10.0643	8.2546	0.31748	0.0:0.7378:0.0:0.2622	.	101;101;101;101	Q6P088;Q5VZN3;Q8NAE1;Q8TF39	.;.;.;ZN483_HUMAN	M	101	ENSP00000350871:L101M;ENSP00000438048:L101M;ENSP00000363494:L101M;ENSP00000311679:L101M	ENSP00000311679:L101M	L	+	1	2	ZNF483	113329797	1.000000	0.71417	0.905000	0.35620	0.946000	0.59487	2.111000	0.41883	0.837000	0.34925	0.609000	0.83330	CTG		0.468	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
C9orf84	158401	broad.mit.edu	37	9	114518619	114518619	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:114518619T>G	ENST00000318737.4	-	6	784	c.656A>C	c.(655-657)aAg>aCg	p.K219T	C9orf84_ENST00000394777.4_Missense_Mutation_p.K180T|C9orf84_ENST00000374283.5_Missense_Mutation_p.K283T|C9orf84_ENST00000374287.3_Missense_Mutation_p.K219T|C9orf84_ENST00000394779.3_Missense_Mutation_p.K180T	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	219								p.K180T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCAAAAAGCTTTTCCTTTTC	0.303																																					p.K219T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A656C	9						.						64.0	63.0	64.0					9																	114518619		2201	4297	6498	113558440	SO:0001583	missense	158401	exon6			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.656A>C	9.37:g.114518619T>G	ENSP00000322108:p.Lys219Thr		113558440	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	T	7.338	0.620329	0.14193	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.46	3.11	0.35812	.	0.876176	0.09889	N	0.742593	T	0.33147	0.0853	N	0.19112	0.55	0.09310	N	1	B;B;P;B	0.46142	0.102;0.077;0.873;0.102	B;B;B;B	0.42282	0.022;0.066;0.382;0.022	T	0.11179	-1.0598	10	0.52906	T	0.07	7.5174	6.1703	0.20414	0.1605:0.0:0.168:0.6715	.	180;283;219;180	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	T	180;180;219;219;283	ENSP00000378259:K180T;ENSP00000378257:K180T;ENSP00000363405:K219T;ENSP00000322108:K219T;ENSP00000363401:K283T	ENSP00000322108:K219T	K	-	2	0	C9orf84	113558440	0.809000	0.29036	0.090000	0.20809	0.150000	0.21749	2.651000	0.46674	0.366000	0.24427	0.482000	0.46254	AAG		0.303	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
ZNF618	114991	broad.mit.edu	37	9	116779041	116779041	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:116779041A>G	ENST00000374126.5	+	10	920	c.821A>G	c.(820-822)cAt>cGt	p.H274R	ZNF618_ENST00000288466.7_Missense_Mutation_p.H262R			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	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.H262R(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TACCAGGAGCATGTGGCCTTA	0.577																																					p.H262R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A785G	9						.						75.0	74.0	75.0					9																	116779041		1941	4146	6087	115818862	SO:0001583	missense	114991	exon10			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.821A>G	9.37:g.116779041A>G	ENSP00000363241:p.His274Arg		115818862	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	A	21.6	4.172876	0.78452	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T;T	0.58652	0.66;0.66;0.65;0.32	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	L	0.29908	0.895	0.34793	D	0.735921	D;D;D;D;D	0.89917	0.993;0.973;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.977;0.921;0.997;1.0;0.996	T	0.74523	-0.3637	10	0.52906	T	0.07	-22.6775	13.7864	0.63112	1.0:0.0:0.0:0.0	.	262;242;274;262;242	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	R	274;262;250;262	ENSP00000363241:H274R;ENSP00000288466:H262R;ENSP00000395400:H250R;ENSP00000363239:H262R	ENSP00000288466:H262R	H	+	2	0	ZNF618	115818862	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.487000	0.90454	2.143000	0.66587	0.533000	0.62120	CAT		0.577	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
ZNF618	114991	broad.mit.edu	37	9	116811037	116811037	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:116811037C>T	ENST00000374126.5	+	15	1554	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	ZNF618_ENST00000288466.7_Silent_p.S392S|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	485					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.S392S(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GTGCACTGAGCGTGGTCAGCG	0.577																																					p.S392S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1176T	9						.						73.0	79.0	77.0					9																	116811037		2047	4185	6232	115850858	SO:0001819	synonymous_variant	114991	exon14			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1455C>T	9.37:g.116811037C>T			115850858	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																					0.577	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
AKNA	80709	broad.mit.edu	37	9	117113143	117113143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:117113143G>A	ENST00000307564.4	-	15	3378	c.3217C>T	c.(3217-3219)Cga>Tga	p.R1073*	AKNA_ENST00000374088.3_Nonsense_Mutation_p.R1073*|AKNA_ENST00000223791.3_Nonsense_Mutation_p.R533*|AKNA_ENST00000374079.4_5'Flank|AKNA_ENST00000374075.5_Nonsense_Mutation_p.R992*	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1073					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R1073*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ACTTACTCTCGCCCTGCCCTG	0.617																																					p.R1073X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3217T	9						.						89.0	86.0	87.0					9																	117113143		2203	4300	6503	116152964	SO:0001587	stop_gained	80709	exon15			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3217C>T	9.37:g.117113143G>A	ENSP00000303769:p.Arg1073*		116152964	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Nonsense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	40	7.960963	0.98583	.	.	ENSG00000106948	ENST00000307564;ENST00000320310;ENST00000374088;ENST00000223791;ENST00000374075	.	.	.	4.11	4.11	0.48088	.	0.000000	0.42964	D	0.000622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1648	0.54123	0.0:0.0:1.0:0.0	.	.	.	.	X	1073;85;1073;533;992	.	ENSP00000223791:R533X	R	-	1	2	AKNA	116152964	0.991000	0.36638	0.970000	0.41538	0.158000	0.22134	1.582000	0.36568	2.601000	0.87937	0.563000	0.77884	CGA		0.617	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
TNFSF15	9966	broad.mit.edu	37	9	117553057	117553057	+	Missense_Mutation	SNP	G	G	A	rs368084272		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:117553057G>A	ENST00000374045.4	-	4	544	c.431C>T	c.(430-432)tCg>tTg	p.S144L	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Missense_Mutation_p.S67L	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S144L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GTAGTCTCCCGACTCTGGGAT	0.498																																					p.S144L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C431T	9						.	G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	122.0	116.0	118.0		254,431	5.0	0.4	9		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TNFSF15	NM_001204344.1,NM_005118.3	145,145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	85/193,144/252	117553057	2,13004	2203	4300	6503	116592878	SO:0001583	missense	9966	exon4			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.431C>T	9.37:g.117553057G>A	ENSP00000363157:p.Ser144Leu		116592878	NM_005118	Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784930	0.49997	2.27E-4	1.16E-4	ENSG00000181634	ENST00000374045;ENST00000374044	T;T	0.66280	-0.2;-0.2	5.93	5.03	0.67393	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.675945	0.14691	N	0.304167	T	0.69708	0.3141	M	0.78456	2.415	0.25621	N	0.986394	D;D	0.57257	0.979;0.969	P;B	0.46076	0.503;0.233	T	0.66292	-0.5960	10	0.59425	D	0.04	-19.2481	16.5367	0.84374	0.0:0.0:0.8681:0.1319	.	144;85	O95150;O95150-2	TNF15_HUMAN;.	L	144;67	ENSP00000363157:S144L;ENSP00000363156:S67L	ENSP00000363156:S67L	S	-	2	0	TNFSF15	116592878	0.667000	0.27484	0.360000	0.25837	0.544000	0.35116	4.211000	0.58507	1.505000	0.48720	0.655000	0.94253	TCG		0.498	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118	
PAPPA	5069	broad.mit.edu	37	9	118997534	118997534	+	Missense_Mutation	SNP	G	G	A	rs192348737	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:118997534G>A	ENST00000328252.3	+	7	2719	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	784					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)	p.E784K(1)|p.E784*(1)		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						CTGCTACCTCGAGCTGGAGTT	0.562													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20074	0.0		0.0	False		,,,				2504	0.0				p.E784K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G2350A	9						.						116.0	94.0	101.0					9																	118997534		2203	4300	6503	118037355	SO:0001583	missense	5069	exon7				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.2350G>A	9.37:g.118997534G>A	ENSP00000330658:p.Glu784Lys		118037355	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.43	3.387821	0.61956	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01933	4.55	6.04	6.04	0.98038	.	0.144833	0.64402	D	0.000006	T	0.02888	0.0086	L	0.39898	1.24	0.80722	D	1	P;P	0.48589	0.912;0.765	B;B	0.37015	0.239;0.085	T	0.53041	-0.8494	10	0.72032	D	0.01	-16.2759	15.8351	0.78791	0.0:0.2362:0.7638:0.0	.	228;784	E7EMD3;Q13219	.;PAPP1_HUMAN	K	784;228	ENSP00000330658:E784K	ENSP00000330658:E784K	E	+	1	0	PAPPA	118037355	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.578000	0.53892	2.873000	0.98535	0.563000	0.77884	GAG		0.562	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
TLR4	7099	broad.mit.edu	37	9	120474993	120474993	+	Missense_Mutation	SNP	G	G	A	rs200570847		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:120474993G>A	ENST00000355622.6	+	3	688	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	TLR4_ENST00000394487.4_Missense_Mutation_p.R156Q|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	196					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R196L(1)|p.R196Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACAGACTTGCGGGTTCTACAT	0.388																																					p.R196Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G587A	9						.						73.0	81.0	78.0					9																	120474993		2199	4297	6496	119514814	SO:0001583	missense	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.587G>A	9.37:g.120474993G>A	ENSP00000363089:p.Arg196Gln		119514814	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.385071	0.01194	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37752	1.5;1.18	5.35	1.62	0.23740	.	1.490030	0.03865	N	0.274567	T	0.17746	0.0426	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21415	-1.0246	10	0.09338	T	0.73	.	9.5284	0.39178	0.7945:0.0:0.2055:0.0	.	196	O00206	TLR4_HUMAN	Q	156;196	ENSP00000377997:R156Q;ENSP00000363089:R196Q	ENSP00000363089:R196Q	R	+	2	0	TLR4	119514814	0.003000	0.15002	0.014000	0.15608	0.121000	0.20230	1.530000	0.36007	0.025000	0.15241	-0.294000	0.09567	CGG		0.388	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
TLR4	7099	broad.mit.edu	37	9	120475660	120475660	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:120475660C>A	ENST00000355622.6	+	3	1355	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L	TLR4_ENST00000394487.4_Missense_Mutation_p.F378L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	418					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.F418L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GTTCAAACTTCTTGGGCTTAG	0.373																																					p.F418L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1254A	9						.						63.0	64.0	64.0					9																	120475660		2203	4300	6503	119515481	SO:0001583	missense	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1254C>A	9.37:g.120475660C>A	ENSP00000363089:p.Phe418Leu		119515481	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223479	0.58668	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00633	6.08;6.08	5.7	1.67	0.24075	.	0.000000	0.64402	D	0.000001	T	0.01592	0.0051	L	0.37897	1.145	0.34855	D	0.741993	D	0.76494	0.999	D	0.73708	0.981	T	0.61845	-0.6979	10	0.62326	D	0.03	.	10.1926	0.43035	0.0:0.6003:0.0:0.3997	.	418	O00206	TLR4_HUMAN	L	378;418	ENSP00000377997:F378L;ENSP00000363089:F418L	ENSP00000363089:F418L	F	+	3	2	TLR4	119515481	0.002000	0.14202	0.644000	0.29465	0.711000	0.40976	-0.253000	0.08794	0.706000	0.31912	0.650000	0.86243	TTC		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
MEGF9	1955	broad.mit.edu	37	9	123384983	123384983	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:123384983C>T	ENST00000373930.3	-	3	965	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	MEGF9_ENST00000426959.1_Missense_Mutation_p.R322Q	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	285	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)		p.R322Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ATCTTGGCATCGGTCACATAT	0.413																																					p.R285Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G854A	9						.						126.0	120.0	122.0					9																	123384983		1961	4164	6125	122424804	SO:0001583	missense	1955	exon3			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.854G>A	9.37:g.123384983C>T	ENSP00000363040:p.Arg285Gln		122424804	NM_001080497	B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934536	0.34189	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.61980	0.06;0.06	5.99	-2.2	0.06994	.	0.728322	0.12891	N	0.430570	T	0.45756	0.1358	L	0.35341	1.055	0.24636	N	0.993596	B	0.18741	0.03	B	0.09377	0.004	T	0.25572	-1.0128	10	0.19590	T	0.45	3.9713	12.5965	0.56472	0.0:0.4735:0.0:0.5265	.	322	C9J1K8	.	Q	285;322	ENSP00000363040:R285Q;ENSP00000392666:R322Q	ENSP00000363040:R285Q	R	-	2	0	MEGF9	122424804	0.192000	0.23301	0.671000	0.29857	0.922000	0.55478	-0.245000	0.08890	-0.635000	0.05531	-0.345000	0.07892	CGA		0.413	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497	
TRAF1	7185	broad.mit.edu	37	9	123686002	123686002	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:123686002C>T	ENST00000373887.3	-	3	2654	c.209G>A	c.(208-210)cGt>cAt	p.R70H	TRAF1_ENST00000540010.1_Missense_Mutation_p.R70H	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	70					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R70H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						AGTTCGAAGACGGCTTCCTGG	0.517																																					p.R70H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G209A	9						.						190.0	163.0	172.0					9																	123686002		2203	4300	6503	122725823	SO:0001583	missense	7185	exon4			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.209G>A	9.37:g.123686002C>T	ENSP00000362994:p.Arg70His		122725823	NM_001190945	B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	2.088	-0.408976	0.04799	.	.	ENSG00000056558	ENST00000373887;ENST00000540010	T;T	0.30714	1.52;1.52	0.235	0.235	0.15431	.	2.282160	0.02202	N	0.062397	T	0.14570	0.0352	N	0.08118	0	0.58432	D	0.999999	P	0.35793	0.521	B	0.04013	0.001	T	0.06250	-1.0837	9	0.48119	T	0.1	.	.	.	.	.	70	Q13077	TRAF1_HUMAN	H	70	ENSP00000362994:R70H;ENSP00000443183:R70H	ENSP00000362994:R70H	R	-	2	0	TRAF1	122725823	0.621000	0.27077	0.821000	0.32701	0.103000	0.19146	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	CGT		0.517	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658	
PTGS1	5742	broad.mit.edu	37	9	125140241	125140241	+	Missense_Mutation	SNP	G	G	A	rs3842789	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:125140241G>A	ENST00000362012.2	+	3	163	c.158G>A	c.(157-159)cGc>cAc	p.R53H	PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.R53H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R28H	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	53	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.		R -> H (in dbSNP:rs3842789). {ECO:0000269|Ref.8}.		arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.R53H(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGCCTTGACCGCTACCAGTGT	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.0				p.R53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	9	GRCh37	CM071952	PTGS1	M	rs3842789	.	G	HIS/ARG,HIS/ARG	17,4389	24.3+/-50.5	0,17,2186	138.0	117.0	124.0		158,158	-0.2	0.7	9	dbSNP_107	124	0,8600		0,0,4300	yes	missense,missense	PTGS1	NM_000962.2,NM_080591.1	29,29	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	benign,benign	53/600,53/563	125140241	17,12989	2203	4300	6503	124180062	SO:0001583	missense	5742	exon3			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.158G>A	9.37:g.125140241G>A	ENSP00000354612:p.Arg53His		124180062	NM_000962	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.42	1.632806	0.29068	0.003858	0.0	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423	T;T;T	0.64803	-0.12;-0.12;-0.12	5.7	-0.222	0.13122	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.142560	0.06090	N	0.663475	T	0.45637	0.1352	L	0.28740	0.885	0.09310	N	0.999999	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.0;0.003	T	0.20907	-1.0261	10	0.23891	T	0.37	-2.3417	5.0367	0.14438	0.4558:0.0:0.391:0.1532	rs3842789;rs3842789	28;53;53	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	28;53;53	ENSP00000437709:R28H;ENSP00000354612:R53H;ENSP00000223423:R53H	ENSP00000223423:R53H	R	+	2	0	PTGS1	124180062	0.000000	0.05858	0.700000	0.30305	0.990000	0.78478	0.094000	0.15107	0.040000	0.15660	0.655000	0.94253	CGC		0.592	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		
OR1J4	26219	broad.mit.edu	37	9	125282327	125282327	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:125282327G>T	ENST00000340750.1	+	1	908	c.908G>T	c.(907-909)aGa>aTa	p.R303I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R303K(1)|p.R303I(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GCCCTGGAGAGACTCTTCAAC	0.423																																					p.R303I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G908T	9						.						58.0	56.0	57.0					9																	125282327		2203	4300	6503	124322148	SO:0001583	missense	26219	exon1			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.908G>T	9.37:g.125282327G>T	ENSP00000343521:p.Arg303Ile		124322148	NM_001004452	A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830366	0.32329	.	.	ENSG00000239590	ENST00000340750	T	0.41065	1.01	5.36	-9.51	0.00581	.	0.449653	0.15804	U	0.243833	T	0.28599	0.0708	M	0.71871	2.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21484	-1.0244	10	0.59425	D	0.04	.	2.7786	0.05354	0.4469:0.0862:0.2983:0.1687	.	303	Q8NGS1	OR1J4_HUMAN	I	303	ENSP00000343521:R303I	ENSP00000343521:R303I	R	+	2	0	OR1J4	124322148	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.022000	0.01439	-1.728000	0.01366	-0.156000	0.13503	AGA		0.423	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1		
OR1L1	26737	broad.mit.edu	37	9	125424627	125424627	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:125424627T>G	ENST00000373686.1	+	1	783	c.783T>G	c.(781-783)ttT>ttG	p.F261L	OR1L1_ENST00000309623.1_Missense_Mutation_p.F211L			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F261L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGACCCCGTTTTCATGCATCA	0.418																																					p.F211L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T633G	9						.						183.0	182.0	182.0					9																	125424627		2203	4300	6503	124464448	SO:0001583	missense	26737	exon1				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.783T>G	9.37:g.125424627T>G	ENSP00000362790:p.Phe261Leu		124464448	NM_001005236	Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37		.	.	.	.	.	.	.	.	.	.	T	12.96	2.095105	0.36952	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.32988	1.43;1.43	3.26	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.32133	0.0819	L	0.35487	1.065	0.09310	N	1	D	0.61697	0.99	P	0.60068	0.868	T	0.13737	-1.0498	9	0.17832	T	0.49	.	5.3954	0.16266	0.0:0.259:0.0:0.741	.	261	Q8NH94	OR1L1_HUMAN	L	261;211	ENSP00000362790:F261L;ENSP00000310773:F211L	ENSP00000310773:F211L	F	+	3	2	OR1L1	124464448	0.000000	0.05858	0.012000	0.15200	0.055000	0.15305	-3.165000	0.00576	0.452000	0.26830	0.260000	0.18958	TTT		0.418	OR1L1-201	KNOWN	basic	protein_coding	protein_coding			
DENND1A	57706	broad.mit.edu	37	9	126345478	126345478	+	Silent	SNP	G	G	A	rs111315483	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:126345478G>A	ENST00000373624.2	-	12	1038	c.837C>T	c.(835-837)ttC>ttT	p.F279F	DENND1A_ENST00000394219.3_Silent_p.F247F|DENND1A_ENST00000394215.2_Silent_p.F249F|DENND1A_ENST00000373620.3_Silent_p.F279F|DENND1A_ENST00000373618.1_Silent_p.F247F|DENND1A_ENST00000542603.1_Silent_p.F63F|AL161790.1_ENST00000410790.1_RNA|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	279					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F279F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGAGGTCATCGAAGGGGGTTT	0.498													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20502	0.0		0.0	False		,,,				2504	0.0				p.F279F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C837T	9						.	G	,	0,4406		0,0,2203	184.0	165.0	171.0		837,837	-6.6	0.8	9	dbSNP_132	171	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DENND1A	NM_020946.1,NM_024820.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	279/1010,279/560	126345478	1,13005	2203	4300	6503	125385299	SO:0001819	synonymous_variant	57706	exon12			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.837C>T	9.37:g.126345478G>A			125385299	NM_024820	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	CCDS35133.1																																																																																				0.498	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	
LHX2	9355	broad.mit.edu	37	9	126794965	126794965	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:126794965G>A	ENST00000373615.4	+	5	1939	c.1200G>A	c.(1198-1200)acG>acA	p.T400T	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	400				GHEPHSPSQTTLTNLF -> AMSLTAPHKRLLPTFSNDSQP PHPTISLKKKLSLV (in Ref. 1; AAB08752). {ECO:0000305}.	axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.T400T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CCTCACAAACGACTCTTACCA	0.453																																					p.T400T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1200A	9						.						90.0	85.0	87.0					9																	126794965		2203	4300	6503	125834786	SO:0001819	synonymous_variant	9355	exon5			U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1200G>A	9.37:g.126794965G>A			125834786	NM_004789	O95860|Q52M57|Q8N1Z3	Silent	SNP	ENST00000373615.4	37	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	G	6.085	0.383891	0.11524	.	.	ENSG00000106689	ENST00000446480	.	.	.	5.65	4.65	0.58169	.	.	.	.	.	T	0.48750	0.1517	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47484	-0.9114	4	.	.	.	.	4.1808	0.10374	0.2925:0.0:0.7075:0.0	.	.	.	.	N	406	.	.	D	+	1	0	LHX2	125834786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.081000	0.30791	2.657000	0.90304	0.561000	0.74099	GAC		0.453	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2		
GOLGA1	2800	broad.mit.edu	37	9	127651788	127651788	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:127651788C>T	ENST00000373555.4	-	17	1858	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	509	Gln-rich.				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.E509K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCCTTCTCGTCTATTATG	0.512																																					p.E509K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1525A	9						.						236.0	223.0	227.0					9																	127651788		2203	4300	6503	126691609	SO:0001583	missense	2800	exon17			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.1525G>A	9.37:g.127651788C>T	ENSP00000362656:p.Glu509Lys		126691609	NM_002077	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691632	0.48097	.	.	ENSG00000136935	ENST00000373555	T	0.35789	1.29	5.22	3.38	0.38709	.	0.000000	0.47093	D	0.000241	T	0.28234	0.0697	L	0.47716	1.5	0.29653	N	0.843775	D	0.58620	0.983	B	0.39299	0.296	T	0.16012	-1.0417	10	0.31617	T	0.26	-1.372	11.536	0.50636	0.0:0.8667:0.0:0.1333	.	509	Q92805	GOGA1_HUMAN	K	509	ENSP00000362656:E509K	ENSP00000362656:E509K	E	-	1	0	GOLGA1	126691609	0.505000	0.26131	0.581000	0.28614	0.206000	0.24218	0.853000	0.27777	0.698000	0.31739	0.448000	0.29417	GAG		0.512	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077	
SCAI	286205	broad.mit.edu	37	9	127715225	127715225	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:127715225C>T	ENST00000336505.6	-	18	1740	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	561					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R584Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGATAATTTCGTGTTTCCTG	0.358																																					p.R584Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1751A	9						.						167.0	149.0	155.0					9																	127715225		1865	4104	5969	126755046	SO:0001583	missense	286205	exon19			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1682G>A	9.37:g.127715225C>T	ENSP00000336756:p.Arg561Gln		126755046	NM_173690	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066828	0.36470	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41065	1.01;1.01	5.17	5.17	0.71159	.	0.134343	0.47852	D	0.000206	T	0.40119	0.1104	N	0.04203	-0.255	0.43047	D	0.994642	P;D	0.69078	0.934;0.997	P;D	0.69479	0.614;0.964	T	0.37709	-0.9694	10	0.13108	T	0.6	-7.4375	18.0219	0.89257	0.0:1.0:0.0:0.0	.	561;584	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	561;584	ENSP00000336756:R561Q;ENSP00000362650:R584Q	ENSP00000336756:R561Q	R	-	2	0	SCAI	126755046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.206000	0.72154	2.560000	0.86352	0.655000	0.94253	CGA		0.358	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690	
RALGPS1	9649	broad.mit.edu	37	9	129831518	129831518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:129831518C>T	ENST00000259351.5	+	8	760	c.493C>T	c.(493-495)Cga>Tga	p.R165*	RALGPS1_ENST00000373436.1_Nonsense_Mutation_p.R165*|RALGPS1_ENST00000373434.1_Nonsense_Mutation_p.R165*|RALGPS1_ENST00000424082.2_Nonsense_Mutation_p.R165*|RALGPS1_ENST00000394022.3_Nonsense_Mutation_p.R165*	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	165	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R165*(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTTTTAAATCGAAAAGACAA	0.368																																					p.R165X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C493T	9						.						71.0	71.0	71.0					9																	129831518		2203	4300	6503	128871339	SO:0001587	stop_gained	9649	exon8			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.493C>T	9.37:g.129831518C>T	ENSP00000259351:p.Arg165*		128871339	NM_014636	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Nonsense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505925	0.44558	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	.	.	.	5.49	-2.13	0.07144	.	0.158311	0.42420	D	0.000711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4563	0.87608	0.6639:0.3361:0.0:0.0	.	.	.	.	X	165;165;165;165;135;165;165	.	ENSP00000259351:R165X	R	+	1	2	RALGPS1	128871339	1.000000	0.71417	0.977000	0.42913	0.178000	0.23041	1.775000	0.38584	-0.210000	0.10140	-1.084000	0.02203	CGA		0.368	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636	
DNM1	1759	broad.mit.edu	37	9	130986577	130986577	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:130986577A>C	ENST00000372923.3	+	10	1336	c.1244A>C	c.(1243-1245)aAg>aCg	p.K415T	DNM1_ENST00000393594.3_Intron|DNM1_ENST00000475805.1_Intron|DNM1_ENST00000486160.1_Intron|DNM1_ENST00000341179.7_Missense_Mutation_p.K415T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	415					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.K415T(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ATTGTGAAAAAGCAGGTGAAG	0.557																																					p.K415T	GBM(113;146 1575 2722 28670 29921)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1244C	9						.						131.0	117.0	122.0					9																	130986577		2203	4300	6503	130026398	SO:0001583	missense	1759	exon10			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1244A>C	9.37:g.130986577A>C	ENSP00000362014:p.Lys415Thr		130026398	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389101	0.61956	.	.	ENSG00000106976	ENST00000341179;ENST00000372923;ENST00000393589	T;T	0.74209	-0.82;-0.82	5.48	5.48	0.80851	Dynamin central domain (1);	0.100794	0.64402	D	0.000003	T	0.78929	0.4361	M	0.86864	2.845	0.80722	D	1	P;B	0.36354	0.549;0.277	B;B	0.36418	0.224;0.143	T	0.82273	-0.0539	10	0.66056	D	0.02	-19.2281	15.5799	0.76425	1.0:0.0:0.0:0.0	.	415;415	Q05193;Q05193-3	DYN1_HUMAN;.	T	415;415;410	ENSP00000345680:K415T;ENSP00000362014:K415T	ENSP00000345680:K415T	K	+	2	0	DNM1	130026398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	2.079000	0.62486	0.454000	0.30748	AAG		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
SPTAN1	6709	broad.mit.edu	37	9	131388794	131388794	+	Missense_Mutation	SNP	G	G	A	rs373259652		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:131388794G>A	ENST00000372731.4	+	48	6499	c.6389G>A	c.(6388-6390)cGc>cAc	p.R2130H	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2135H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2135H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2130					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R2130H(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAAGCTTTGCGCGAGGCCCAC	0.582																																					p.R2110H	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6329A	9						.						73.0	77.0	75.0					9																	131388794		2203	4300	6503	130428615	SO:0001583	missense	6709	exon47			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6389G>A	9.37:g.131388794G>A	ENSP00000361816:p.Arg2130His		130428615	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589020	0.86851	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.49432	0.78;0.78;0.78	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.984;0.984;0.986	T	0.69859	-0.5031	10	0.46703	T	0.11	.	19.4754	0.94985	0.0:0.0:1.0:0.0	.	2110;2135;2130	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	2135;2130;2135;2110;379	ENSP00000350882:R2135H;ENSP00000361816:R2130H;ENSP00000361824:R2135H	ENSP00000350882:R2135H	R	+	2	0	SPTAN1	130428615	1.000000	0.71417	0.513000	0.27749	0.687000	0.40016	9.476000	0.97823	2.597000	0.87782	0.563000	0.77884	CGC		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
ZER1	10444	broad.mit.edu	37	9	131513726	131513726	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:131513726G>A	ENST00000291900.2	-	6	1410	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	335					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.S335F(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GCGGCACAGAGAGTTCTCAAA	0.587																																					p.S335F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1004T	9						.						87.0	95.0	93.0					9																	131513726		2203	4300	6503	130553547	SO:0001583	missense	10444	exon6			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1004C>T	9.37:g.131513726G>A	ENSP00000291900:p.Ser335Phe		130553547	NM_006336	O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541750	0.65198	.	.	ENSG00000160445	ENST00000291900	T	0.49432	0.78	5.39	5.39	0.77823	.	0.242428	0.41712	D	0.000839	T	0.46927	0.1418	L	0.48642	1.525	0.54753	D	0.999988	P	0.44578	0.838	B	0.41813	0.367	T	0.50874	-0.8776	10	0.59425	D	0.04	-30.6644	17.7253	0.88363	0.0:0.0:1.0:0.0	.	335	Q7Z7L7	ZER1_HUMAN	F	335	ENSP00000291900:S335F	ENSP00000291900:S335F	S	-	2	0	ZER1	130553547	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.715000	0.61909	2.548000	0.85928	0.313000	0.20887	TCT		0.587	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336	
MPDZ	8777	broad.mit.edu	37	9	13186340	13186340	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:13186340G>T	ENST00000319217.7	-	18	2657	c.2410C>A	c.(2410-2412)Ctc>Atc	p.L804I	MPDZ_ENST00000381022.2_Missense_Mutation_p.L804I|MPDZ_ENST00000546205.1_Missense_Mutation_p.L804I|MPDZ_ENST00000541718.1_Missense_Mutation_p.L804I|MPDZ_ENST00000381015.4_Missense_Mutation_p.L804I|MPDZ_ENST00000447879.1_Missense_Mutation_p.L804I|MPDZ_ENST00000536827.1_Missense_Mutation_p.L804I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	804					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.L804I(2)		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)		GGTGGGTAGAGAAAGGAATCC	0.463																																					p.L804I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2410A	9						.						46.0	47.0	47.0					9																	13186340		1892	4114	6006	13176340	SO:0001583	missense	8777	exon17			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.2410C>A	9.37:g.13186340G>T	ENSP00000320006:p.Leu804Ile		13176340	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	5.629	0.300822	0.10678	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10668	2.9;2.85;2.85;2.85;2.89;2.9;2.9	5.24	0.332	0.15938	.	0.386473	0.18025	N	0.154109	T	0.05686	0.0149	N	0.19112	0.55	0.80722	D	1	P;P;P	0.39424	0.544;0.673;0.673	B;B;B	0.36464	0.113;0.165;0.225	T	0.49021	-0.8982	10	0.21540	T	0.41	.	8.0033	0.30310	0.6213:0.0:0.3787:0.0	.	804;804;804	B7ZMI4;O75970-3;O75970-2	.;.;.	I	804;804;804;804;804;804;754;804	ENSP00000320006:L804I;ENSP00000439807:L804I;ENSP00000370410:L804I;ENSP00000444151:L804I;ENSP00000415208:L804I;ENSP00000370403:L804I;ENSP00000446358:L804I	ENSP00000320006:L804I	L	-	1	0	MPDZ	13176340	1.000000	0.71417	0.853000	0.33588	0.180000	0.23129	2.480000	0.45206	0.161000	0.19458	-0.806000	0.03193	CTC		0.463	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
MPDZ	8777	broad.mit.edu	37	9	13188956	13188956	+	Missense_Mutation	SNP	G	G	A	rs367846340		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:13188956G>A	ENST00000319217.7	-	17	2438	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C	MPDZ_ENST00000381022.2_Missense_Mutation_p.R731C|MPDZ_ENST00000546205.1_Missense_Mutation_p.R731C|MPDZ_ENST00000541718.1_Missense_Mutation_p.R731C|MPDZ_ENST00000381015.4_Missense_Mutation_p.R731C|MPDZ_ENST00000447879.1_Missense_Mutation_p.R731C|MPDZ_ENST00000536827.1_Missense_Mutation_p.R731C	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	731	PDZ 5. {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.R731C(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)		ACCAAAGAACGAATTATAATC	0.433																																					p.R731C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2191T	9						.	G	CYS/ARG	0,3996		0,0,1998	66.0	66.0	66.0		2191	5.9	1.0	9		66	1,8355		0,1,4177	no	missense	MPDZ	NM_003829.3	180	0,1,6175	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	731/2042	13188956	1,12351	1998	4178	6176	13178956	SO:0001583	missense	8777	exon16			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.2191C>T	9.37:g.13188956G>A	ENSP00000320006:p.Arg731Cys		13178956	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	33	5.228938	0.95173	0.0	1.2E-4	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.9	5.9	0.94986	.	0.000000	0.47852	D	0.000213	T	0.60353	0.2262	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	1.0;0.999;0.999	T	0.64863	-0.6307	10	0.87932	D	0	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	731;731;731	B7ZMI4;O75970-3;O75970-2	.;.;.	C	731;731;731;731;731;731;681;731	ENSP00000320006:R731C;ENSP00000439807:R731C;ENSP00000370410:R731C;ENSP00000444151:R731C;ENSP00000415208:R731C;ENSP00000370403:R731C;ENSP00000446358:R731C	ENSP00000320006:R731C	R	-	1	0	MPDZ	13178956	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.797000	0.96272	0.655000	0.94253	CGT		0.433	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
NUP188	23511	broad.mit.edu	37	9	131763997	131763997	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:131763997C>T	ENST00000372577.2	+	35	4054	c.4033C>T	c.(4033-4035)Cgc>Tgc	p.R1345C	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1345					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.R1345C(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CACCCTGGCTCGCACTCAGCA	0.587																																					p.R1345C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4033T	9						.						36.0	31.0	33.0					9																	131763997		2203	4300	6503	130803818	SO:0001583	missense	23511	exon35			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4033C>T	9.37:g.131763997C>T	ENSP00000361658:p.Arg1345Cys		130803818	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005257	0.74932	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.66995	-0.24	5.39	5.39	0.77823	.	0.050671	0.64402	D	0.000001	T	0.73016	0.3533	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.56088	0.791;0.719	T	0.75932	-0.3143	10	0.87932	D	0	-25.6519	11.9073	0.52719	0.2766:0.7234:0.0:0.0	.	678;1345	E9PET9;Q5SRE5	.;NU188_HUMAN	C	1234;1345	ENSP00000361658:R1345C	ENSP00000349125:R1234C	R	+	1	0	NUP188	130803818	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.286000	0.43496	2.537000	0.85549	0.462000	0.41574	CGC		0.587	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
FIBCD1	84929	broad.mit.edu	37	9	133779659	133779659	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:133779659T>C	ENST00000372338.4	-	7	1420	c.1178A>G	c.(1177-1179)gAc>gGc	p.D393G	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Missense_Mutation_p.D235G|FIBCD1_ENST00000448616.1_Missense_Mutation_p.D393G	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	393	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.D393G(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		ATGGTCGCTGTCACGGTCCTT	0.642																																					p.D393G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1178G	9						.						172.0	138.0	150.0					9																	133779659		2203	4300	6503	132769480	SO:0001583	missense	84929	exon8			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1178A>G	9.37:g.133779659T>C	ENSP00000361413:p.Asp393Gly		132769480	NM_001145106	A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	ENST00000372338.4	37	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967998	0.92855	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337	D;D;D	0.86297	-2.1;-2.1;-2.1	4.79	4.79	0.61399	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.048706	0.85682	N	0.000000	D	0.95159	0.8431	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96247	0.9180	10	0.87932	D	0	.	13.1479	0.59472	0.0:0.0:0.0:1.0	.	393	Q8N539	FBCD1_HUMAN	G	393;393;235	ENSP00000414501:D393G;ENSP00000361413:D393G;ENSP00000361412:D235G	ENSP00000361412:D235G	D	-	2	0	FIBCD1	132769480	1.000000	0.71417	0.972000	0.41901	0.984000	0.73092	7.997000	0.88414	1.793000	0.52555	0.454000	0.30748	GAC		0.642	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843	
PRRC2B	84726	broad.mit.edu	37	9	134367633	134367633	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:134367633G>A	ENST00000357304.4	+	29	6514	c.6459G>A	c.(6457-6459)tcG>tcA	p.S2153S	PRRC2B_ENST00000458550.1_Silent_p.S1459S|PRRC2B_ENST00000372249.1_Silent_p.S250S|PRRC2B_ENST00000405995.1_Silent_p.S1459S|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000465931.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2153							poly(A) RNA binding (GO:0044822)	p.S2153S(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCGTGCCATCGCCACAGACCT	0.567																																					p.S2153S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6459A	9						.						74.0	75.0	74.0					9																	134367633		2027	4186	6213	133357454	SO:0001819	synonymous_variant	84726	exon29			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6459G>A	9.37:g.134367633G>A			133357454	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	2.967	-0.213316	0.06140	.	.	ENSG00000130723	ENST00000320547	.	.	.	5.23	-3.61	0.04556	.	.	.	.	.	T	0.49490	0.1560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42582	-0.9443	4	.	.	.	-15.4801	6.5896	0.22639	0.3712:0.3467:0.282:0.0	.	.	.	.	T	160	.	.	A	+	1	0	PRRC2B	133357454	0.002000	0.14202	0.236000	0.24074	0.367000	0.29736	-1.945000	0.01537	-1.035000	0.03291	-0.302000	0.09304	GCC		0.567	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SETX	23064	broad.mit.edu	37	9	135173631	135173631	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:135173631C>T	ENST00000224140.5	-	13	5799	c.5617G>A	c.(5617-5619)Gaa>Aaa	p.E1873K	SETX_ENST00000393220.1_Missense_Mutation_p.E1873K|SETX_ENST00000372169.2_Missense_Mutation_p.E1873K	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1873					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.E1873*(1)|p.E1873K(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)		TTCACAAGTTCGTTTAAATTG	0.413																																					p.E1873K												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(2)	c.G5617A	9						.						106.0	101.0	103.0					9																	135173631		2203	4300	6503	134163452	SO:0001583	missense	23064	exon13			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.5617G>A	9.37:g.135173631C>T	ENSP00000224140:p.Glu1873Lys		134163452	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272439	0.23221	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.89746	-2.02;-2.56;-2.11;-1.72	5.72	1.31	0.21738	.	0.834364	0.10784	N	0.634561	T	0.78597	0.4308	L	0.29908	0.895	0.09310	N	1	B;B;B	0.33494	0.062;0.291;0.414	B;B;B	0.30179	0.04;0.052;0.112	T	0.62077	-0.6930	10	0.13853	T	0.58	.	7.4285	0.27113	0.0:0.3608:0.4792:0.16	.	1873;1873;1873	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	K	1873;115;1873;1873	ENSP00000224140:E1873K;ENSP00000409143:E115K;ENSP00000361242:E1873K;ENSP00000376913:E1873K	ENSP00000224140:E1873K	E	-	1	0	SETX	134163452	0.660000	0.27420	0.003000	0.11579	0.376000	0.30014	0.173000	0.16724	0.247000	0.21414	-0.274000	0.10170	GAA		0.413	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SETX	23064	broad.mit.edu	37	9	135206710	135206710	+	Missense_Mutation	SNP	C	C	T	rs540348550		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:135206710C>T	ENST00000224140.5	-	8	1146	c.964G>A	c.(964-966)Gca>Aca	p.A322T	SETX_ENST00000393220.1_Missense_Mutation_p.A322T|SETX_ENST00000372169.2_Missense_Mutation_p.A322T	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	322					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.A322T(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)		TTGTAGCTTGCGTTGTTGATA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		18453	0.0		0.0	False		,,,				2504	0.001				p.A322T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964A	9						.						163.0	147.0	152.0					9																	135206710		2203	4300	6503	134196531	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.964G>A	9.37:g.135206710C>T	ENSP00000224140:p.Ala322Thr		134196531	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660958	0.14645	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.60548	0.18;0.18;0.18	6.17	1.3	0.21679	.	1.213040	0.05580	N	0.572678	T	0.37404	0.1002	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	10	0.18710	T	0.47	.	5.8636	0.18762	0.0:0.5115:0.2325:0.256	.	322	Q7Z333	SETX_HUMAN	T	322	ENSP00000224140:A322T;ENSP00000361242:A322T;ENSP00000376913:A322T	ENSP00000224140:A322T	A	-	1	0	SETX	134196531	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.067000	0.14510	-0.018000	0.14079	-0.137000	0.14449	GCA		0.403	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
TTF1	7270	broad.mit.edu	37	9	135254498	135254498	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:135254498A>G	ENST00000334270.2	-	10	2451	c.2412T>C	c.(2410-2412)ttT>ttC	p.F804F	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	804					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F804F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCAGCCTAGAAAATTTAGTTT	0.318																																					p.F804F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2412C	9						.						72.0	78.0	76.0					9																	135254498		2203	4300	6503	134244319	SO:0001819	synonymous_variant	7270	exon10			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2412T>C	9.37:g.135254498A>G			134244319	NM_007344	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	CCDS6948.1																																																																																				0.318	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344	
TSC1	7248	broad.mit.edu	37	9	135772716	135772716	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:135772716C>T	ENST00000298552.3	-	22	3051	c.2830G>A	c.(2830-2832)Gca>Aca	p.A944T	TSC1_ENST00000440111.2_Missense_Mutation_p.A944T|TSC1_ENST00000545250.1_Missense_Mutation_p.A893T	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	944					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.A944T(1)|p.?(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)		CTGCTCTCTGCGGCCTGCAGC	0.433			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.A943T		yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|bone(1)	c.G2827A	9						.						95.0	100.0	99.0					9																	135772716		2203	4300	6503	134762537	SO:0001583	missense	7248	exon22	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.2830G>A	9.37:g.135772716C>T	ENSP00000298552:p.Ala944Thr		134762537	NM_001162426	B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666786	0.47677	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.81659	-1.52;-1.52;-1.32	5.61	5.61	0.85477	.	0.188397	0.47455	D	0.000221	T	0.73567	0.3603	L	0.56769	1.78	0.80722	D	1	P;P	0.42620	0.785;0.785	B;B	0.31101	0.124;0.124	T	0.73225	-0.4050	10	0.13470	T	0.59	-12.668	18.624	0.91331	0.0:1.0:0.0:0.0	.	893;944	B7Z897;Q92574	.;TSC1_HUMAN	T	944;944;893	ENSP00000298552:A944T;ENSP00000394524:A944T;ENSP00000444017:A893T	ENSP00000298552:A944T	A	-	1	0	TSC1	134762537	0.998000	0.40836	0.955000	0.39395	0.972000	0.66771	4.138000	0.58017	2.645000	0.89757	0.650000	0.86243	GCA		0.433	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
COL5A1	1289	broad.mit.edu	37	9	137721846	137721846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:137721846G>T	ENST00000371817.3	+	64	5506	c.5092G>T	c.(5092-5094)Gaa>Taa	p.E1698*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1698	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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.E1698*(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)		TTGGCCCAAAGAAAACCCGGG	0.542																																					p.E1698X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5092T	9						.						73.0	69.0	70.0					9																	137721846		2203	4300	6503	136861667	SO:0001587	stop_gained	1289	exon64			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.5092G>T	9.37:g.137721846G>T	ENSP00000360882:p.Glu1698*		136861667	NM_000093	Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	48	14.916421	0.99815	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6249	0.91333	0.0:0.0:1.0:0.0	.	.	.	.	X	1698	.	ENSP00000360882:E1698X	E	+	1	0	COL5A1	136861667	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.718000	0.98758	2.453000	0.82957	0.655000	0.94253	GAA		0.542	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
FCN1	2219	broad.mit.edu	37	9	137801885	137801885	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:137801885G>T	ENST00000371806.3	-	9	831	c.740C>A	c.(739-741)tCt>tAt	p.S247Y		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	247	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.S247Y(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCCCGTTAGAGAATTACCTGC	0.502																																					p.S247Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C740A	9						.						167.0	173.0	171.0					9																	137801885		2203	4300	6503	136941706	SO:0001583	missense	2219	exon9			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.740C>A	9.37:g.137801885G>T	ENSP00000360871:p.Ser247Tyr		136941706	NM_002003	Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390932	0.62066	.	.	ENSG00000085265	ENST00000371806	T	0.22945	1.93	3.29	3.29	0.37713	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.59918	0.2229	H	0.94503	3.545	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	T	0.72097	-0.4393	9	0.87932	D	0	.	12.4424	0.55631	0.0:0.0:1.0:0.0	.	247	O00602	FCN1_HUMAN	Y	247	ENSP00000360871:S247Y	ENSP00000360871:S247Y	S	-	2	0	FCN1	136941706	1.000000	0.71417	0.060000	0.19600	0.188000	0.23474	5.263000	0.65507	1.830000	0.53286	0.643000	0.83706	TCT		0.502	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	
FCN1	2219	broad.mit.edu	37	9	137806253	137806253	+	Missense_Mutation	SNP	C	C	A	rs143361034		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:137806253C>A	ENST00000371806.3	-	4	376	c.285G>T	c.(283-285)gaG>gaT	p.E95D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	95					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.E95D(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCATCCCCTTCTCTCCTCGGT	0.627																																					p.E95D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G285T	9						.						131.0	121.0	125.0					9																	137806253		2203	4300	6503	136946074	SO:0001583	missense	2219	exon4			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.285G>T	9.37:g.137806253C>A	ENSP00000360871:p.Glu95Asp		136946074	NM_002003	Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	2.908	-0.225981	0.06022	.	.	ENSG00000085265	ENST00000371807;ENST00000371806	D	0.94232	-3.38	2.77	-0.457	0.12186	.	.	.	.	.	T	0.78848	0.4348	N	0.04018	-0.295	0.22684	N	0.998851	B	0.09022	0.002	B	0.15484	0.013	T	0.66428	-0.5926	9	0.09590	T	0.72	.	3.3585	0.07178	0.0:0.5074:0.2181:0.2744	.	95	O00602	FCN1_HUMAN	D	95	ENSP00000360871:E95D	ENSP00000360871:E95D	E	-	3	2	FCN1	136946074	0.013000	0.17824	0.027000	0.17364	0.205000	0.24178	-0.592000	0.05747	-0.086000	0.12550	0.478000	0.44815	GAG		0.627	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	
LCN9	392399	broad.mit.edu	37	9	138556062	138556062	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:138556062A>G	ENST00000277526.3	+	2	151	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	51						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)	p.K51E(1)		kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAATCGGATTAAAGAAAATGG	0.493																																					p.K51E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A151G	9						.						94.0	94.0	94.0					9																	138556062		1889	4106	5995	137695883	SO:0001583	missense	392399	exon2			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.151A>G	9.37:g.138556062A>G	ENSP00000277526:p.Lys51Glu		137695883	NM_001001676	C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	37	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.685133	0.00745	.	.	ENSG00000148386	ENST00000277526	T	0.05855	3.38	3.08	-1.16	0.09678	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.431880	0.04860	N	0.444007	T	0.01421	0.0046	N	0.00408	-1.53	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.42799	-0.9430	10	0.02654	T	1	-16.3479	3.3963	0.07307	0.3874:0.2044:0.4081:0.0	.	51	Q8WX39	LCN9_HUMAN	E	51	ENSP00000277526:K51E	ENSP00000277526:K51E	K	+	1	0	LCN9	137695883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.005000	0.03674	-0.238000	0.09724	-0.648000	0.03929	AAA		0.493	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676	
KCNT1	57582	broad.mit.edu	37	9	138646970	138646970	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:138646970T>G	ENST00000263604.3	+	6	438	c.438T>G	c.(436-438)gcT>gcG	p.A146A	KCNT1_ENST00000488444.2_Silent_p.A146A|KCNT1_ENST00000371757.2_Silent_p.A165A|KCNT1_ENST00000298480.5_Silent_p.A165A|KCNT1_ENST00000486577.2_Silent_p.A126A|KCNT1_ENST00000490355.2_Silent_p.A146A|KCNT1_ENST00000491806.2_Silent_p.A132A|KCNT1_ENST00000487664.1_Silent_p.A117A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	146					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.A165A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TTCCCAGGGCTCCTATTCTGT	0.617																																					p.A165A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T495G	9						.						113.0	90.0	98.0					9																	138646970		2203	4300	6503	137786791	SO:0001819	synonymous_variant	57582	exon6			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.438T>G	9.37:g.138646970T>G			137786791	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																					0.617	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
CAMSAP1	157922	broad.mit.edu	37	9	138742231	138742231	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:138742231T>G	ENST00000389532.4	-	6	949	c.885A>C	c.(883-885)gaA>gaC	p.E295D	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E17D|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E306D	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	295	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.E295D(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TATTAAGATATTCATTGGAGA	0.343																																					p.E295D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A885C	9						.						68.0	76.0	73.0					9																	138742231		2203	4299	6502	137882052	SO:0001583	missense	157922	exon6			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.885A>C	9.37:g.138742231T>G	ENSP00000374183:p.Glu295Asp		137882052	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630739	0.67015	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	D;D;T	0.95307	-3.67;-3.67;2.41	5.57	-0.657	0.11432	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (2);	0.206010	0.49305	N	0.000158	D	0.94938	0.8363	L	0.49350	1.555	0.43953	D	0.996622	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.982	D	0.93000	0.6422	10	0.87932	D	0	-2.5887	10.8882	0.46978	0.0:0.3724:0.0:0.6276	.	295;306	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	D	295;17;306	ENSP00000374183:E295D;ENSP00000312463:E17D;ENSP00000386420:E306D	ENSP00000312463:E17D	E	-	3	2	CAMSAP1	137882052	0.032000	0.19561	0.534000	0.28014	0.979000	0.70002	-0.785000	0.04628	-0.082000	0.12640	-0.242000	0.12053	GAA		0.343	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
SNAPC4	6621	broad.mit.edu	37	9	139290148	139290148	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:139290148T>G	ENST00000298532.2	-	3	620	c.252A>C	c.(250-252)gaA>gaC	p.E84D		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.E84D(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCAGGCAGGTTTCTGGGTCTT	0.572																																					p.E84D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A252C	9						.						158.0	165.0	163.0					9																	139290148		2203	4300	6503	138409969	SO:0001583	missense	6621	exon3			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.252A>C	9.37:g.139290148T>G	ENSP00000298532:p.Glu84Asp		138409969	NM_003086		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008846	0.75046	.	.	ENSG00000165684	ENST00000298532	T	0.33216	1.42	5.29	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.72894	2.215	0.34483	D	0.70412	P	0.49862	0.929	P	0.60886	0.88	T	0.64504	-0.6392	10	0.87932	D	0	-37.3793	9.8222	0.40889	0.0:0.8251:0.0:0.1749	.	84	Q5SXM2	SNPC4_HUMAN	D	84	ENSP00000298532:E84D	ENSP00000298532:E84D	E	-	3	2	SNAPC4	138409969	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	1.929000	0.40114	1.229000	0.43630	-0.146000	0.13790	GAA		0.572	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
SEC16A	9919	broad.mit.edu	37	9	139347907	139347907	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:139347907T>G	ENST00000371706.3	-	20	5631	c.5598A>C	c.(5596-5598)gaA>gaC	p.E1866D	SEC16A_ENST00000290037.6_Missense_Mutation_p.E1866D|SEC16A_ENST00000431893.2_Missense_Mutation_p.E1866D|SEC16A_ENST00000398335.1_5'Flank|SEC16A_ENST00000313050.7_Missense_Mutation_p.E2044D			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1866	Pro-rich.				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.E2044D(1)		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)		CATCAAAATTTTCTTCGCTTA	0.443																																					p.E2044D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6132C	9						.						81.0	83.0	83.0					9																	139347907		1866	4107	5973	138467728	SO:0001583	missense	9919	exon22			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.5598A>C	9.37:g.139347907T>G	ENSP00000360771:p.Glu1866Asp		138467728	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.07|15.07	2.725158|2.725158	0.48833|0.48833	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348|ENST00000433860	T;T;T;T;T;T|.	0.46819|.	1.86;0.86;1.46;1.86;1.86;1.86|.	4.69|4.69	0.269|0.269	0.15631|0.15631	.|.	0.608646|.	0.17144|.	N|.	0.185349|.	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.43757|0.43757	1.38|1.38	0.24492|0.24492	N|N	0.994293|0.994293	B;P;B;B;B|.	0.36315|.	0.261;0.547;0.015;0.002;0.024|.	B;B;B;B;B|.	0.39217|.	0.294;0.28;0.016;0.005;0.007|.	T|T	0.27640|0.27640	-1.0068|-1.0068	10|5	0.23891|.	T|.	0.37|.	-19.033|-19.033	3.3151|3.3151	0.07030|0.07030	0.3146:0.4332:0.0:0.2522|0.3146:0.4332:0.0:0.2522	.|.	2044;1866;1866;1434;1866|.	F1T0I1;O15027-5;O15027-4;A4QN19;O15027|.	.;.;.;.;SC16A_HUMAN|.	D|Q	2044;438;766;1866;1866;1866;1434;402|174	ENSP00000325827:E2044D;ENSP00000277537:E438D;ENSP00000403525:E766D;ENSP00000360771:E1866D;ENSP00000290037:E1866D;ENSP00000387583:E1866D|.	ENSP00000277537:E438D|.	E|K	-|-	3|1	2|0	SEC16A|SEC16A	138467728|138467728	0.134000|0.134000	0.22483|0.22483	0.019000|0.019000	0.16419|0.16419	0.020000|0.020000	0.10135|0.10135	-0.121000|-0.121000	0.10643|0.10643	0.135000|0.135000	0.18707|0.18707	-0.379000|-0.379000	0.06801|0.06801	GAA|AAA		0.443	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
SEC16A	9919	broad.mit.edu	37	9	139369518	139369518	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:139369518C>T	ENST00000371706.3	-	1	2049	c.2016G>A	c.(2014-2016)tcG>tcA	p.S672S	SEC16A_ENST00000290037.6_Silent_p.S672S|SEC16A_ENST00000431893.2_Silent_p.S672S|SEC16A_ENST00000313050.7_Silent_p.S850S			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	
ARRDC1-AS1	85026	broad.mit.edu	37	9	140510481	140510481	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:140510481G>A	ENST00000371417.3	-	3	711	c.171C>T	c.(169-171)ttC>ttT	p.F57F	EHMT1_ENST00000460843.1_5'Flank|EHMT1_ENST00000334856.6_5'Flank|C9orf37_ENST00000496793.1_5'UTR|EHMT1_ENST00000462484.1_5'Flank	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		57								p.F57F(1)		breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCTTTAGGGCGAAGGGGTGAC	0.552																																					p.F57F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171T	9						.						86.0	87.0	86.0					9																	140510481		2202	4300	6502	139630302	SO:0001819	synonymous_variant	85026	exon3																														ENST00000371417.3:c.171C>T	9.37:g.140510481G>A			139630302	NM_032937	Q17RM5|Q5T368	Silent	SNP	ENST00000371417.3	37	CCDS35189.1																																																																																				0.552	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1		
DOCK8	81704	broad.mit.edu	37	9	339015	339015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:339015C>T	ENST00000453981.1	+	13	1544	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	DOCK8_ENST00000432829.2_Missense_Mutation_p.R410C|DOCK8_ENST00000469391.1_Missense_Mutation_p.R410C			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	478					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R410C(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAGGAGATCGCCTTAGCGA	0.403																																					p.R410C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1228T	9						.						116.0	95.0	102.0					9																	339015		2203	4300	6503	329015	SO:0001583	missense	81704	exon12			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1432C>T	9.37:g.339015C>T	ENSP00000408464:p.Arg478Cys		329015	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094606	0.76870	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.40476	1.03;1.03;1.03	6.08	6.08	0.98989	.	0.102304	0.64402	D	0.000005	T	0.66470	0.2792	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.69822	-0.5041	10	0.87932	D	0	.	13.5136	0.61528	0.2546:0.7454:0.0:0.0	.	410;478	E9PH09;Q8NF50	.;DOCK8_HUMAN	C	478;478;410;410	ENSP00000408464:R478C;ENSP00000394888:R410C;ENSP00000419438:R410C	ENSP00000287364:R478C	R	+	1	0	DOCK8	329015	0.969000	0.33509	1.000000	0.80357	0.995000	0.86356	1.424000	0.34848	2.894000	0.99253	0.655000	0.94253	CGC		0.403	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
KANK1	23189	broad.mit.edu	37	9	712347	712347	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:712347C>T	ENST00000382303.1	+	7	2233	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	KANK1_ENST00000382297.2_Silent_p.V527V|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.V369V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	527					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.V369V(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)		ACCAAATGGTCGGCAGTCACA	0.532																																					p.V369V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1107T	9						.						89.0	84.0	86.0					9																	712347		2203	4300	6503	702347	SO:0001819	synonymous_variant	23189	exon2			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.1581C>T	9.37:g.712347C>T			702347	NM_153186	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																				0.532	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
KANK1	23189	broad.mit.edu	37	9	713322	713322	+	Silent	SNP	C	C	T	rs149371668		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:713322C>T	ENST00000382303.1	+	7	3208	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	KANK1_ENST00000382297.2_Silent_p.F852F|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.F694F	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	852					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.F694F(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)		CAGAAGCTTTCGGGGAACCTC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20083	0.0		0.001	False		,,,				2504	0.0				p.F694F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2082T	9						.	C	,	1,4405	2.1+/-5.4	0,1,2202	137.0	131.0	133.0		2556,2082	-5.5	0.9	9	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	KANK1	NM_015158.2,NM_153186.3	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	852/1353,694/1195	713322	3,13003	2203	4300	6503	703322	SO:0001819	synonymous_variant	23189	exon2			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.2556C>T	9.37:g.713322C>T			703322	NM_153186	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																				0.517	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
SMARCA2	6595	broad.mit.edu	37	9	2182150	2182150	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:2182150C>T	ENST00000382203.1	+	31	4578	c.4369C>T	c.(4369-4371)Cgt>Tgt	p.R1457C	SMARCA2_ENST00000324954.5_Missense_Mutation_p.R103C|SMARCA2_ENST00000302401.3_Missense_Mutation_p.R145C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1457C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1439C|SMARCA2_ENST00000382185.1_Missense_Mutation_p.R103C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1439C|SMARCA2_ENST00000382186.1_Missense_Mutation_p.R121C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1457	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.R1453C(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)		GGAAAGGATTCGTAATCATAA	0.443																																					p.R1439C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4315T	9						.						131.0	130.0	130.0					9																	2182150		2203	4300	6503	2172150	SO:0001583	missense	6595	exon30			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.4369C>T	9.37:g.2182150C>T	ENSP00000371638:p.Arg1457Cys		2172150	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168750	0.38315	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000452193;ENST00000302401;ENST00000324954;ENST00000423555;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751	T;T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.84	5.84	0.93424	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	M	0.67700	2.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.996;0.998	T	0.57464	-0.7807	10	0.87932	D	0	-11.9829	20.1579	0.98126	0.0:1.0:0.0:0.0	.	143;145;1439;1457	B4DNT1;B1ALF6;P51531-2;P51531	.;.;.;SMCA2_HUMAN	C	1457;1439;1457;1439;121;145;103;143;121;143;103;103;103	ENSP00000265773:R1457C;ENSP00000349788:R1439C;ENSP00000371638:R1457C;ENSP00000371629:R1439C;ENSP00000401096:R121C;ENSP00000305411:R145C;ENSP00000324770:R103C;ENSP00000413057:R143C;ENSP00000371621:R121C;ENSP00000387486:R143C;ENSP00000371620:R103C;ENSP00000371618:R103C;ENSP00000412242:R103C	ENSP00000305411:R145C	R	+	1	0	SMARCA2	2172150	0.994000	0.37717	0.961000	0.40146	0.115000	0.19883	3.196000	0.51020	2.767000	0.95098	0.555000	0.69702	CGT		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
RFX3	5991	broad.mit.edu	37	9	3263051	3263051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:3263051G>A	ENST00000382004.3	-	14	1800	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	RFX3_ENST00000302303.1_Nonsense_Mutation_p.R497*|RFX3_ENST00000358730.2_Nonsense_Mutation_p.R497*	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	497					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R497*(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTGTATCTTCGCAGAGTCTGG	0.483																																					p.R497X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1489T	9						.						154.0	131.0	138.0					9																	3263051		2203	4300	6503	3253051	SO:0001587	stop_gained	5991	exon14			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1489C>T	9.37:g.3263051G>A	ENSP00000371434:p.Arg497*		3253051	NM_134428	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Nonsense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	43	10.042788	0.99324	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5406	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	497;497;497;70	.	ENSP00000303847:R497X	R	-	1	2	RFX3	3253051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.937000	0.99478	0.650000	0.86243	CGA		0.483	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919	
GLIS3	169792	broad.mit.edu	37	9	3937084	3937084	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:3937084T>G	ENST00000324333.10	-	4	1544	c.1351A>C	c.(1351-1353)Aag>Cag	p.K451Q	GLIS3_ENST00000381971.3_Missense_Mutation_p.K606Q|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	451					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K451Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTGAAGGCCTTCTGACAACCC	0.552																																					p.K451Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1351C	9						.						148.0	141.0	143.0					9																	3937084		2203	4300	6503	3927084	SO:0001583	missense	169792	exon4			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1351A>C	9.37:g.3937084T>G	ENSP00000325494:p.Lys451Gln		3927084	NM_152629	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615638	0.87359	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.27256	1.68;1.68	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	U	0.000192	T	0.54935	0.1889	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.98;0.968;0.953;0.997	T	0.60115	-0.7326	10	0.87932	D	0	.	16.0679	0.80897	0.0:0.0:0.0:1.0	.	119;119;606;451	Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	Q	451;606	ENSP00000325494:K451Q;ENSP00000371398:K606Q	ENSP00000325494:K451Q	K	-	1	0	GLIS3	3927084	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.265000	0.75225	0.482000	0.46254	AAG		0.552	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
SLC1A1	6505	broad.mit.edu	37	9	4544619	4544619	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:4544619G>A	ENST00000262352.3	+	2	380	c.144G>A	c.(142-144)gaG>gaA	p.E48E		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	48					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.E48E(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CAACTCTAGAGAAATTCTACT	0.388																																					p.E48E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G144A	9						.						143.0	142.0	142.0					9																	4544619		2203	4300	6503	4534619	SO:0001819	synonymous_variant	6505	exon2				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.144G>A	9.37:g.4544619G>A			4534619	NM_004170	O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	37	CCDS6452.1																																																																																				0.388	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
JAK2	3717	broad.mit.edu	37	9	5055687	5055687	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5055687G>A	ENST00000381652.3	+	8	1449	c.955G>A	c.(955-957)Gat>Aat	p.D319N	JAK2_ENST00000539801.1_Missense_Mutation_p.D319N|JAK2_ENST00000544510.1_Missense_Mutation_p.D170N	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	319	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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.D319N(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)	GTTATATTGCGATTTTCCTAA	0.303		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.D319N			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G955A	9						.						60.0	62.0	61.0					9																	5055687		2202	4292	6494	5045687	SO:0001583	missense	3717	exon8	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.955G>A	9.37:g.5055687G>A	ENSP00000371067:p.Asp319Asn		5045687	NM_004972	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340167	0.95783	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.62364	0.03;0.03;0.03	5.78	5.78	0.91487	FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	T	0.79916	-0.1601	10	0.52906	T	0.07	-24.6463	20.0027	0.97425	0.0:0.0:1.0:0.0	.	319	O60674	JAK2_HUMAN	N	319;319;170	ENSP00000440387:D319N;ENSP00000371067:D319N;ENSP00000443103:D170N	ENSP00000371067:D319N	D	+	1	0	JAK2	5045687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.146000	0.71777	2.733000	0.93635	0.655000	0.94253	GAT		0.303	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
JAK2	3717	broad.mit.edu	37	9	5072613	5072613	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5072613G>T	ENST00000381652.3	+	13	2257	c.1763G>T	c.(1762-1764)aGa>aTa	p.R588I	JAK2_ENST00000539801.1_Missense_Mutation_p.R588I|JAK2_ENST00000544510.1_Missense_Mutation_p.R439I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	588	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.R588I(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)	AAAGCACACAGAAACTATTCA	0.358		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.R588I			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1763T	9						.						56.0	58.0	58.0					9																	5072613		2203	4299	6502	5062613	SO:0001583	missense	3717	exon13	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.1763G>T	9.37:g.5072613G>T	ENSP00000371067:p.Arg588Ile		5062613	NM_004972	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281417	0.80692	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.82984	-1.67;-1.67;-1.67	5.73	4.82	0.62117	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	0.90219	0.6942	M	0.70903	2.155	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.91472	0.5197	10	0.87932	D	0	-21.8616	16.731	0.85435	0.0:0.1295:0.8705:0.0	.	588	O60674	JAK2_HUMAN	I	588;588;439	ENSP00000440387:R588I;ENSP00000371067:R588I;ENSP00000443103:R439I	ENSP00000371067:R588I	R	+	2	0	JAK2	5062613	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.459000	0.97638	1.408000	0.46895	-0.283000	0.09986	AGA		0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
CD274	29126	broad.mit.edu	37	9	5457399	5457399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5457399C>T	ENST00000381577.3	+	3	459	c.373C>T	c.(373-375)Cga>Tga	p.R125*	CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	125	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R125*(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		CGACTACAAGCGAATTACTGT	0.423			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																p.R125X			Dom	yes		9	9p24	29126	CD274 molecule		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C373T	9						.						45.0	48.0	47.0					9																	5457399		2203	4300	6503	5447399	SO:0001587	stop_gained	29126	exon3			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.373C>T	9.37:g.5457399C>T	ENSP00000370989:p.Arg125*		5447399	NM_014143	B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Nonsense_Mutation	SNP	ENST00000381577.3	37	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906162	0.97087	.	.	ENSG00000120217	ENST00000381577	.	.	.	5.71	1.77	0.24775	.	0.445078	0.21484	N	0.073797	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.4383	3.7928	0.08727	0.3105:0.4323:0.0:0.2572	.	.	.	.	X	125	.	ENSP00000370989:R125X	R	+	1	2	CD274	5447399	0.984000	0.35163	1.000000	0.80357	0.629000	0.37895	0.181000	0.16880	0.759000	0.33084	0.655000	0.94253	CGA		0.423	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143	
RIC1	57589	broad.mit.edu	37	9	5772740	5772740	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5772740C>T	ENST00000414202.2	+	24	3984	c.3793C>T	c.(3793-3795)Cgg>Tgg	p.R1265W	KIAA1432_ENST00000449720.2_Splice_Site_p.R1149W|KIAA1432_ENST00000418622.3_Splice_Site_p.R1186W	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.R1186W(2)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGTCCAGCTTCGGTGAGTTTC	0.438																																					p.R1186W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3556T	9						.						51.0	50.0	50.0					9																	5772740		2203	4300	6503	5762740	SO:0001630	splice_region_variant	57589	exon23																														ENST00000414202.2:c.3794+1C>T	9.37:g.5772740C>T			5762740	NM_020829		Missense_Mutation	SNP	ENST00000414202.2	37	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.829814|3.829814	0.71258|0.71258	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720;ENST00000490816|ENST00000545641	.|.	.|.	.|.	5.66|5.66	3.79|3.79	0.43588|0.43588	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71143|0.71143	0.3305|0.3305	M|M	0.67953|0.67953	2.075|2.075	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|T	0.69781|0.69781	-0.5052|-0.5052	9|5	0.87932|.	D|.	0|.	-18.0482|-18.0482	14.9079|14.9079	0.70733|0.70733	0.3725:0.6274:0.0:0.0|0.3725:0.6274:0.0:0.0	.|.	1149;1265|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	W|L	1265;1186;1149;84|1156	.|.	ENSP00000416696:R1265W|.	R|S	+|+	1|2	2|0	KIAA1432|KIAA1432	5762740|5762740	0.977000|0.977000	0.34250|0.34250	0.977000|0.977000	0.42913|0.42913	0.949000|0.949000	0.60115|0.60115	2.465000|2.465000	0.45075|0.45075	0.718000|0.718000	0.32166|0.32166	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.438	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		Missense_Mutation
ERMP1	79956	broad.mit.edu	37	9	5830851	5830851	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5830851G>T	ENST00000339450.5	-	2	605	c.516C>A	c.(514-516)ttC>ttA	p.F172L	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	172						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.F172L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AACCTCCCAAGAAATCAATGC	0.418																																					p.F172L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C516A	9						.						107.0	102.0	104.0					9																	5830851		2203	4300	6503	5820851	SO:0001583	missense	79956	exon2			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.516C>A	9.37:g.5830851G>T	ENSP00000340427:p.Phe172Leu		5820851	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636893	0.67130	.	.	ENSG00000099219	ENST00000339450	T	0.52983	0.64	5.67	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	L	0.55213	1.73	0.80722	D	1	D;D	0.64830	0.99;0.994	D;P	0.64237	0.923;0.896	T	0.46345	-0.9198	10	0.24483	T	0.36	-18.9045	7.8428	0.29408	0.4749:0.0:0.5251:0.0	.	172;172	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	L	172	ENSP00000340427:F172L	ENSP00000340427:F172L	F	-	3	2	ERMP1	5820851	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.354000	0.34056	0.291000	0.22468	-0.345000	0.07892	TTC		0.418	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
KIAA2026	158358	broad.mit.edu	37	9	5920513	5920513	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5920513G>T	ENST00000399933.3	-	8	5482	c.5483C>A	c.(5482-5484)tCt>tAt	p.S1828Y	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1798Y	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1828								p.S1003Y(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)		ATTTGGCAGAGAAGCAAAATT	0.418																																					p.S1828Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5483A	9						.						349.0	349.0	349.0					9																	5920513		1920	4116	6036	5910513	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.5483C>A	9.37:g.5920513G>T	ENSP00000382815:p.Ser1828Tyr		5910513	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	G	14.59	2.580773	0.46006	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	6.0	6.0	0.97389	.	0.322809	0.29473	N	0.012046	T	0.76442	0.3988	M	0.73598	2.24	0.36534	D	0.870899	P	0.52692	0.955	P	0.54312	0.748	T	0.80837	-0.1204	9	0.72032	D	0.01	-4.4639	20.4945	0.99205	0.0:0.0:1.0:0.0	.	1828	Q5HYC2	K2026_HUMAN	Y	1828;1798	.	ENSP00000370870:S1798Y	S	-	2	0	KIAA2026	5910513	1.000000	0.71417	0.998000	0.56505	0.543000	0.35085	4.623000	0.61247	2.846000	0.97976	0.650000	0.86243	TCT		0.418	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
KIAA2026	158358	broad.mit.edu	37	9	5920717	5920717	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5920717T>C	ENST00000399933.3	-	8	5278	c.5279A>G	c.(5278-5280)aAc>aGc	p.N1760S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1730S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1760								p.N935S(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)		TGGAACTGTGTTTATTATTTT	0.433																																					p.N1760S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5279G	9						.						257.0	251.0	253.0					9																	5920717		1953	4142	6095	5910717	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.5279A>G	9.37:g.5920717T>C	ENSP00000382815:p.Asn1760Ser		5910717	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	T	1.938	-0.444309	0.04604	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.57	-0.813	0.10850	.	0.428519	0.22226	N	0.062895	T	0.35828	0.0945	M	0.70595	2.14	0.22266	N	0.999249	B	0.09022	0.002	B	0.12156	0.007	T	0.40590	-0.9555	9	0.06494	T	0.89	0.0718	6.5126	0.22230	0.0:0.3267:0.1237:0.5496	.	1760	Q5HYC2	K2026_HUMAN	S	1760;1730	.	ENSP00000370870:N1730S	N	-	2	0	KIAA2026	5910717	0.744000	0.28250	0.920000	0.36463	0.681000	0.39784	-0.104000	0.10923	-0.275000	0.09219	0.528000	0.53228	AAC		0.433	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
KIAA2026	158358	broad.mit.edu	37	9	5924739	5924739	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5924739C>A	ENST00000399933.3	-	7	2604	c.2605G>T	c.(2605-2607)Gac>Tac	p.D869Y	KIAA2026_ENST00000381461.2_Missense_Mutation_p.D839Y	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	869								p.D44Y(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)		TTAGGAGAGTCTTTTCCAAGA	0.373																																					p.D869Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2605T	9						.						130.0	130.0	130.0					9																	5924739		1831	4087	5918	5914739	SO:0001583	missense	158358	exon7			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.2605G>T	9.37:g.5924739C>A	ENSP00000382815:p.Asp869Tyr		5914739	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	C	15.31	2.794347	0.50102	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.55	5.55	0.83447	.	0.532348	0.17741	N	0.163568	T	0.31071	0.0785	N	0.08118	0	0.33969	D	0.646578	P	0.52692	0.955	P	0.47251	0.542	T	0.48625	-0.9019	9	0.87932	D	0	-3.5636	12.799	0.57576	0.0:0.925:0.0:0.075	.	869	Q5HYC2	K2026_HUMAN	Y	869;839	.	ENSP00000370870:D839Y	D	-	1	0	KIAA2026	5914739	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.901000	0.69861	2.597000	0.87782	0.484000	0.47621	GAC		0.373	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
KIAA2026	158358	broad.mit.edu	37	9	5969252	5969252	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:5969252C>T	ENST00000399933.3	-	3	978	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E327K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	327										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)		CGTTCCAATTCGTAAAAGACT	0.403																																					p.E327K												.	.	0			c.G979A	9						.						79.0	73.0	75.0					9																	5969252		1874	4100	5974	5959252	SO:0001583	missense	158358	exon3			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.979G>A	9.37:g.5969252C>T	ENSP00000382815:p.Glu327Lys		5959252	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.210551	0.79240	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	6.07	5.18	0.71444	.	0.000000	0.49916	U	0.000132	T	0.78349	0.4269	M	0.72118	2.19	0.48571	D	0.999678	D	0.89917	1.0	D	0.85130	0.997	T	0.81261	-0.1013	9	0.87932	D	0	.	15.5017	0.75703	0.0:0.9339:0.0:0.0661	.	327	Q5HYC2	K2026_HUMAN	K	327;327;260	.	ENSP00000370870:E327K	E	-	1	0	KIAA2026	5959252	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.459000	0.80802	1.585000	0.49928	0.585000	0.79938	GAA		0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
KDM4C	23081	broad.mit.edu	37	9	6814685	6814685	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:6814685G>T	ENST00000381309.3	+	4	940	c.375G>T	c.(373-375)aaG>aaT	p.K125N	KDM4C_ENST00000401787.3_Missense_Mutation_p.K125N|KDM4C_ENST00000543771.1_Missense_Mutation_p.K125N|KDM4C_ENST00000381306.3_Missense_Mutation_p.K125N|KDM4C_ENST00000442236.2_5'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.K147N|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000489243.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	125					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.K125N(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGTACTGGAAGAACTTAACTT	0.353																																					p.K147N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G441T	9						.						151.0	149.0	149.0					9																	6814685		2203	4300	6503	6804685	SO:0001583	missense	23081	exon4			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.375G>T	9.37:g.6814685G>T	ENSP00000370710:p.Lys125Asn		6804685	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126383	0.77549	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000401787;ENST00000381309;ENST00000381306	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.73	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	H	0.94183	3.505	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.787;0.997;0.969;0.999;0.999	D;P;D;P;D;D	0.85130	0.99;0.488;0.918;0.769;0.989;0.997	T	0.77755	-0.2469	10	0.87932	D	0	-25.7514	10.0449	0.42180	0.154:0.0:0.846:0.0	.	125;125;125;147;125;125	F5H347;B4E1Y4;B0QZ60;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	N	147;125;125;125;125	ENSP00000442382:K147N;ENSP00000445427:K125N;ENSP00000383990:K125N;ENSP00000370710:K125N;ENSP00000370707:K125N	ENSP00000370707:K125N	K	+	3	2	KDM4C	6804685	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.779000	0.62375	1.400000	0.46741	0.561000	0.74099	AAG		0.353	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	
PTPRD	5789	broad.mit.edu	37	9	8484375	8484375	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:8484375G>T	ENST00000381196.4	-	27	3700	c.3157C>A	c.(3157-3159)Ctt>Att	p.L1053I	PTPRD_ENST00000540109.1_Missense_Mutation_p.L1053I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1031I|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1040I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L642I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L642I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L632I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1053I|PTPRD_ENST00000537002.1_Missense_Mutation_p.L639I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L639I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L632I	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		
PTPRD	5789	broad.mit.edu	37	9	8733794	8733794	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:8733794C>T	ENST00000381196.4	-	9	593	c.50G>A	c.(49-51)cGc>cAc	p.R17H	PTPRD_ENST00000463477.1_Missense_Mutation_p.R17H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R17H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R17H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R17H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R17H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R17H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R17H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R17H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R17H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R17H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R17H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	17					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.R17H(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)		AGCATCCGTGCGGAGGAAGAA	0.582										TSP Lung(15;0.13)																											p.R17H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G50A	9						.						65.0	52.0	56.0					9																	8733794		2166	4233	6399	8723794	SO:0001583	missense	5789	exon1			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.50G>A	9.37:g.8733794C>T	ENSP00000370593:p.Arg17His		8723794	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225700	0.39300	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.73681	0.58;0.58;0.63;0.68;0.76;0.89;0.63;0.54;0.58;0.76;0.88;-0.55;-0.77	5.56	0.58	0.17402	.	1.057470	0.07351	N	0.882479	T	0.45796	0.1360	N	0.03608	-0.345	0.21473	N	0.999672	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.27905	-1.0060	9	.	.	.	.	2.8975	0.05694	0.12:0.4312:0.1066:0.3423	.	17;17;17;17;17;17;17;17;17;17	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	17	ENSP00000370593:R17H;ENSP00000348812:R17H;ENSP00000353187:R17H;ENSP00000351293:R17H;ENSP00000347373:R17H;ENSP00000380741:R17H;ENSP00000380735:R17H;ENSP00000440515:R17H;ENSP00000438164:R17H;ENSP00000417093:R17H;ENSP00000380731:R17H;ENSP00000417661:R17H;ENSP00000417890:R17H	.	R	-	2	0	PTPRD	8723794	0.003000	0.15002	0.491000	0.27477	0.948000	0.59901	-1.113000	0.03296	0.181000	0.19994	0.655000	0.94253	CGC		0.582	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
NFIB	4781	broad.mit.edu	37	9	14150223	14150223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:14150223C>A	ENST00000380959.3	-	5	1200	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	NFIB_ENST00000397579.2_Nonsense_Mutation_p.E243*|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397575.3_Nonsense_Mutation_p.E243*|NFIB_ENST00000380953.1_Nonsense_Mutation_p.E243*|NFIB_ENST00000397581.2_Nonsense_Mutation_p.E243*|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380934.4_Nonsense_Mutation_p.E269*	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	243					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.E243*(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)		CTTGGGATTTCTCCAATTGGG	0.473			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																p.E269X	Esophageal Squamous(132;921 1730 14828 40753 46471)		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G805T	9						.						285.0	287.0	286.0					9																	14150223		2203	4300	6503	14140223	SO:0001587	stop_gained	4781	exon5			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.727G>T	9.37:g.14150223C>A	ENSP00000370346:p.Glu243*		14140223	NM_001190738	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Nonsense_Mutation	SNP	ENST00000380959.3	37	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	47	13.751870	0.99761	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579	.	.	.	5.06	5.06	0.68205	.	0.048589	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.791	0.91974	0.0:1.0:0.0:0.0	.	.	.	.	X	269;243;243;243;243;243	.	ENSP00000370321:E269X	E	-	1	0	NFIB	14140223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.897000	0.75671	2.489000	0.83994	0.655000	0.94253	GAA		0.473	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	
FREM1	158326	broad.mit.edu	37	9	14776044	14776044	+	Missense_Mutation	SNP	C	C	T	rs374901721		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:14776044C>T	ENST00000380880.3	-	25	5383	c.4600G>A	c.(4600-4602)Gac>Aac	p.D1534N	FREM1_ENST00000380894.1_Missense_Mutation_p.D70N|FREM1_ENST00000422223.2_Missense_Mutation_p.D1534N|FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000380881.4_Missense_Mutation_p.D1535N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1534					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D1535N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTATCAGGGTCGGTCAGCTGA	0.597																																					p.D1534N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4600A	9						.	C	ASN/ASP,ASN/ASP	0,4016		0,0,2008	135.0	144.0	141.0		208,4600	6.2	1.0	9		141	1,8341		0,1,4170	no	missense,missense	FREM1	NM_001177704.1,NM_144966.5	23,23	0,1,6178	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	70/716,1534/2180	14776044	1,12357	2008	4171	6179	14766044	SO:0001583	missense	158326	exon26			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4600G>A	9.37:g.14776044C>T	ENSP00000370262:p.Asp1534Asn		14766044	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924004	0.92319	0.0	1.2E-4	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87839	0.2650	10	0.49607	T	0.09	-22.4805	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1534;70	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	N	1535;1534;70;1534	ENSP00000370263:D1535N;ENSP00000412940:D1534N;ENSP00000370278:D70N;ENSP00000370262:D1534N	ENSP00000370262:D1534N	D	-	1	0	FREM1	14766044	1.000000	0.71417	0.974000	0.42286	0.427000	0.31564	7.452000	0.80683	2.937000	0.99478	0.650000	0.86243	GAC		0.597	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
PSIP1	11168	broad.mit.edu	37	9	15465536	15465536	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:15465536A>C	ENST00000380733.4	-	16	1918	c.1575T>G	c.(1573-1575)gaT>gaG	p.D525E	PSIP1_ENST00000380738.4_Missense_Mutation_p.D525E			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	525					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)	p.D525E(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTAGTGTAGAATCCTTCAGAG	0.363																																					p.D525E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1575G	9						.						109.0	115.0	113.0					9																	15465536		2203	4299	6502	15455536	SO:0001583	missense	11168	exon16			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1575T>G	9.37:g.15465536A>C	ENSP00000370109:p.Asp525Glu		15455536	NM_001128217	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	A	9.805	1.181533	0.21787	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.38722	1.12;1.12	5.9	-4.36	0.03645	.	0.428275	0.25570	N	0.029763	T	0.18676	0.0448	N	0.14661	0.345	0.34441	D	0.699599	B	0.02656	0.0	B	0.01281	0.0	T	0.18366	-1.0339	10	0.18276	T	0.48	.	9.9029	0.41359	0.3286:0.5557:0.1156:0.0	.	525	O75475	PSIP1_HUMAN	E	525	ENSP00000370109:D525E;ENSP00000370114:D525E	ENSP00000370109:D525E	D	-	3	2	PSIP1	15455536	0.441000	0.25626	0.446000	0.26920	0.986000	0.74619	-0.555000	0.05999	-0.456000	0.07043	0.477000	0.44152	GAT		0.363	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222	
CCDC171	203238	broad.mit.edu	37	9	15591451	15591451	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:15591451G>T	ENST00000380701.3	+	5	768	c.440G>T	c.(439-441)aGa>aTa	p.R147I	CCDC171_ENST00000535968.1_Missense_Mutation_p.R147I|CCDC171_ENST00000297641.3_Missense_Mutation_p.R147I	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	147	Glu-rich.							p.R147I(1)									GAATGCAGAAGATTTGAACAT	0.328																																					p.R147I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440T	9						.						71.0	72.0	71.0					9																	15591451		2203	4299	6502	15581451	SO:0001583	missense	203238	exon5			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.440G>T	9.37:g.15591451G>T	ENSP00000370077:p.Arg147Ile		15581451	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848387	0.51164	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	T;T;T	0.59906	0.23;0.23;0.23	5.58	3.75	0.43078	.	0.288444	0.38326	N	0.001729	T	0.41581	0.1165	L	0.29908	0.895	0.31615	N	0.651058	P;P;P;P	0.42203	0.514;0.514;0.514;0.773	B;B;B;B	0.36766	0.134;0.134;0.134;0.232	T	0.51608	-0.8684	10	0.54805	T	0.06	-2.1665	9.5514	0.39313	0.1656:0.0:0.8344:0.0	.	147;147;147;147	B7ZM22;Q6TFL3-3;Q6TFL3;Q7Z3F8	.;.;CI093_HUMAN;.	I	147	ENSP00000438838:R147I;ENSP00000297641:R147I;ENSP00000370077:R147I	ENSP00000297641:R147I	R	+	2	0	C9orf93	15581451	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.463000	0.45058	0.733000	0.32492	0.549000	0.68633	AGA		0.328	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
BNC2	54796	broad.mit.edu	37	9	16419065	16419065	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:16419065A>C	ENST00000380672.4	-	7	3279	c.3222T>G	c.(3220-3222)ttT>ttG	p.F1074L	BNC2_ENST00000380667.2_Missense_Mutation_p.F1007L|BNC2_ENST00000545497.1_Missense_Mutation_p.F979L	NM_017637.5	NP_060107.3			basonuclin 2									p.F1074L(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)		GTACAGAGGAAAACATCATAT	0.428																																					p.F1074L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3222G	9						.						139.0	126.0	131.0					9																	16419065		2203	4300	6503	16409065	SO:0001583	missense	54796	exon7			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.3222T>G	9.37:g.16419065A>C	ENSP00000370047:p.Phe1074Leu		16409065	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026507	0.54683	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.69685	0.98;-0.42;-0.42	6.08	-3.79	0.04320	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.64997	1.995	0.80722	D	1	D;P;D	0.67145	0.996;0.956;0.993	D;D;D	0.73380	0.98;0.931;0.935	T	0.76913	-0.2783	10	0.87932	D	0	-14.6122	16.9885	0.86347	0.3665:0.0:0.6335:0.0	.	979;1074;839	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	L	1074;1007;979	ENSP00000370047:F1074L;ENSP00000370042:F1007L;ENSP00000444640:F979L	ENSP00000370042:F1007L	F	-	3	2	BNC2	16409065	0.991000	0.36638	0.934000	0.37439	0.987000	0.75469	0.265000	0.18515	-0.888000	0.03956	-0.353000	0.07706	TTT		0.428	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
BNC2	54796	broad.mit.edu	37	9	16437090	16437090	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:16437090C>T	ENST00000380672.4	-	6	1159	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	BNC2_ENST00000380667.2_Missense_Mutation_p.E301K|BNC2_ENST00000380666.2_Missense_Mutation_p.E368K|BNC2_ENST00000545497.1_Missense_Mutation_p.E273K	NM_017637.5	NP_060107.3			basonuclin 2									p.E368K(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)		ACTTCGGATTCGCTGCTCTCA	0.488																																					p.E368K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1102A	9						.						102.0	104.0	103.0					9																	16437090		2203	4300	6503	16427090	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.1102G>A	9.37:g.16437090C>T	ENSP00000370047:p.Glu368Lys		16427090	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500223	0.44455	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.33438	1.42;1.42;1.44;1.44;1.41	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.51422	1.61	0.80722	D	1	D;P;D;P;D;P;P;P;D;P	0.71674	0.997;0.926;0.991;0.956;0.998;0.956;0.926;0.926;0.961;0.926	P;B;B;B;P;B;B;B;B;B	0.59643	0.742;0.057;0.351;0.268;0.861;0.196;0.096;0.096;0.138;0.096	T	0.12553	-1.0543	10	0.06494	T	0.89	-18.2285	20.4082	0.99013	0.0:1.0:0.0:0.0	.	273;301;405;368;194;368;325;368;273;133	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;.;BNC2_HUMAN;.;.	K	368;325;405;396;301;273;194;368;368	ENSP00000370047:E368K;ENSP00000408370:E325K;ENSP00000370042:E301K;ENSP00000444640:E273K;ENSP00000370041:E368K	ENSP00000370041:E368K	E	-	1	0	BNC2	16427090	1.000000	0.71417	0.147000	0.22382	0.486000	0.33341	3.282000	0.51693	2.814000	0.96858	0.655000	0.94253	GAA		0.488	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
ADAMTSL1	92949	broad.mit.edu	37	9	18635985	18635985	+	Missense_Mutation	SNP	C	C	T	rs200648653		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:18635985C>T	ENST00000380548.4	+	6	985	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R216C|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R216C|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R216C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	216						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R216C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAGACATATTCGCCTTGTCTT	0.353																																					p.R216C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C646T	9						.						236.0	220.0	226.0					9																	18635985		2203	4300	6503	18625985	SO:0001583	missense	92949	exon6			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.646C>T	9.37:g.18635985C>T	ENSP00000369921:p.Arg216Cys		18625985	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793457	0.90453	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.64991	-0.13;0.63;0.63;0.63	6.08	6.08	0.98989	.	.	.	.	.	D	0.83335	0.5232	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.62184	0.825;0.899	D	0.85314	0.1080	9	0.62326	D	0.03	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	216;216	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	C	216	ENSP00000369921:R216C;ENSP00000327887:R216C;ENSP00000369940:R216C;ENSP00000276935:R216C	ENSP00000276935:R216C	R	+	1	0	ADAMTSL1	18625985	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.099000	0.64554	2.894000	0.99253	0.655000	0.94253	CGC		0.353	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
HAUS6	54801	broad.mit.edu	37	9	19058131	19058131	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:19058131C>T	ENST00000380502.3	-	16	3101	c.2634G>A	c.(2632-2634)acG>acA	p.T878T	HAUS6_ENST00000380496.1_Silent_p.T742T	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	878					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.T878T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAAAGTTAAGCGTATCATCTG	0.418																																					p.T878T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2634A	9						.						203.0	196.0	199.0					9																	19058131		2203	4300	6503	19048131	SO:0001819	synonymous_variant	54801	exon16			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2634G>A	9.37:g.19058131C>T			19048131	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	CCDS6489.1																																																																																				0.418	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
HAUS6	54801	broad.mit.edu	37	9	19058868	19058868	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:19058868C>A	ENST00000380502.3	-	16	2364	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*	HAUS6_ENST00000380496.1_Nonsense_Mutation_p.E497*	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	633					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.E633*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGCTAAATTCTCTTTGATTG	0.368																																					p.E633X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1897T	9						.						72.0	68.0	69.0					9																	19058868		2203	4300	6503	19048868	SO:0001587	stop_gained	54801	exon16			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1897G>T	9.37:g.19058868C>A	ENSP00000369871:p.Glu633*		19048868	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Nonsense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	8.025	0.760571	0.15914	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	.	.	.	4.88	2.89	0.33648	.	0.434509	0.22469	N	0.059647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.7066	9.2527	0.37564	0.1438:0.7763:0.0:0.0799	.	.	.	.	X	633;497;149	.	ENSP00000369865:E497X	E	-	1	0	HAUS6	19048868	0.144000	0.22641	0.246000	0.24233	0.049000	0.14656	1.801000	0.38843	1.154000	0.42482	0.467000	0.42956	GAA		0.368	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
DENND4C	55667	broad.mit.edu	37	9	19346106	19346106	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:19346106G>A	ENST00000380432.2	+	18	2517	c.2484G>A	c.(2482-2484)tcG>tcA	p.S828S	DENND4C_ENST00000434457.2_Silent_p.S1113S|DENND4C_ENST00000602925.1_Silent_p.S1064S			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	828					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.S828S(1)		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						GTTTGGATTCGAATTCAAGTG	0.398																																					p.S828S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2484A	9						.						157.0	148.0	151.0					9																	19346106		2203	4300	6503	19336106	SO:0001819	synonymous_variant	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.2484G>A	9.37:g.19346106G>A			19336106	NM_017925	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37																																																																																					0.398	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
IFNE	338376	broad.mit.edu	37	9	21481404	21481404	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:21481404G>T	ENST00000448696.3	-	1	908	c.290C>A	c.(289-291)tCt>tAt	p.S97Y	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	97					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|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)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S97Y(1)		large_intestine(2)|lung(1)|skin(1)	4						ACCATCCAGAGAAATATTTGC	0.463																																					p.S97Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C290A	9						.						101.0	99.0	100.0					9																	21481404		2203	4300	6503	21471404	SO:0001583	missense	338376	exon1			AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.290C>A	9.37:g.21481404G>T	ENSP00000418018:p.Ser97Tyr		21471404	NM_176891		Missense_Mutation	SNP	ENST00000448696.3	37	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554544	0.27739	.	.	ENSG00000184995	ENST00000448696	T	0.05319	3.46	4.93	2.01	0.26516	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.994327	0.08155	U	0.989446	T	0.27134	0.0665	M	0.90309	3.105	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.06625	-1.0816	10	0.87932	D	0	.	4.1758	0.10351	0.1736:0.0:0.5078:0.3186	.	97	Q86WN2	IFNE_HUMAN	Y	97	ENSP00000418018:S97Y	ENSP00000418018:S97Y	S	-	2	0	IFNE	21471404	0.008000	0.16893	0.000000	0.03702	0.366000	0.29705	1.551000	0.36233	0.332000	0.23536	0.655000	0.94253	TCT		0.463	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891	
ELAVL2	1993	broad.mit.edu	37	9	23704920	23704920	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:23704920G>A	ENST00000397312.2	-	4	757	c.483C>T	c.(481-483)gtC>gtT	p.V161V	ELAVL2_ENST00000223951.6_Silent_p.V161V|ELAVL2_ENST00000544538.1_Silent_p.V161V|ELAVL2_ENST00000380117.1_Silent_p.V161V|ELAVL2_ENST00000380110.4_Silent_p.V190V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V161V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACTTACCAGTGACCTGGTCGA	0.438																																					p.V161V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C483T	9						.						140.0	129.0	133.0					9																	23704920		2203	4300	6503	23694920	SO:0001819	synonymous_variant	1993	exon4			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.483C>T	9.37:g.23704920G>A			23694920	NM_001171197	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	CCDS6515.1																																																																																				0.438	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
TEK	7010	broad.mit.edu	37	9	27228260	27228260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:27228260C>T	ENST00000380036.4	+	22	3699	c.3257C>T	c.(3256-3258)gCc>gTc	p.A1086V	TEK_ENST00000406359.4_Missense_Mutation_p.A1043V|TEK_ENST00000519097.1_Missense_Mutation_p.A938V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1086	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.A1086V(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)	CCATCATTTGCCCAGATATTG	0.413																																					p.A1086V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3257T	9						.						125.0	124.0	125.0					9																	27228260		2203	4300	6503	27218260	SO:0001583	missense	7010	exon22			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.3257C>T	9.37:g.27228260C>T	ENSP00000369375:p.Ala1086Val		27218260	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385481	0.95967	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.83163	-1.69;-1.69;-1.69	5.81	5.81	0.92471	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000138	D	0.89203	0.6648	L	0.52905	1.665	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.999	P;P;D	0.64877	0.9;0.742;0.93	D	0.89310	0.3632	10	0.72032	D	0.01	.	19.6728	0.95916	0.0:1.0:0.0:0.0	.	938;1119;1086	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	V	938;1086;1043	ENSP00000430686:A938V;ENSP00000369375:A1086V;ENSP00000383977:A1043V	ENSP00000369375:A1086V	A	+	2	0	TEK	27218260	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.219000	0.65262	2.760000	0.94817	0.643000	0.83706	GCC		0.413	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
TOPORS	10210	broad.mit.edu	37	9	32542101	32542101	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:32542101C>T	ENST00000360538.2	-	3	2538	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	TOPORS_ENST00000379858.1_Missense_Mutation_p.E743K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	808	Interaction with TOP1.				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.E808*(1)|p.E808K(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)		TGAGCCACTTCGTTAGTACCC	0.423																																					p.E743K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|large_intestine(1)	c.G2227A	9	GRCh37	CM081845	TOPORS	M		.						124.0	120.0	121.0					9																	32542101		2203	4300	6503	32532101	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.2422G>A	9.37:g.32542101C>T	ENSP00000353735:p.Glu808Lys		32532101	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692613	0.30052	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.13778	2.56;2.57	5.91	3.98	0.46160	.	0.123059	0.37348	N	0.002126	T	0.05914	0.0154	N	0.04508	-0.205	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.27806	-1.0063	10	0.35671	T	0.21	-10.6127	8.2296	0.31590	0.1458:0.7289:0.0:0.1252	.	808	Q9NS56	TOPRS_HUMAN	K	808;743	ENSP00000353735:E808K;ENSP00000369187:E743K	ENSP00000353735:E808K	E	-	1	0	TOPORS	32532101	0.009000	0.17119	0.870000	0.34147	0.561000	0.35649	0.740000	0.26188	2.803000	0.96430	0.650000	0.86243	GAA		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TOPORS	10210	broad.mit.edu	37	9	32543329	32543329	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:32543329C>T	ENST00000360538.2	-	3	1310	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	TOPORS_ENST00000379858.1_Silent_p.E333E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	398					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.E398E(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)		GGGTCTCAGCCTCATCTGGAG	0.473																																					p.E333E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G999A	9						.						86.0	88.0	87.0					9																	32543329		2203	4300	6503	32533329	SO:0001819	synonymous_variant	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.1194G>A	9.37:g.32543329C>T			32533329	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	CCDS6527.1																																																																																				0.473	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TOPORS	10210	broad.mit.edu	37	9	32543744	32543744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:32543744C>T	ENST00000360538.2	-	3	895	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.R195Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	260	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R260Q(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)		ATAAAGAGTTCGTCTAAAATT	0.398																																					p.R195Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G584A	9						.						82.0	89.0	87.0					9																	32543744		2203	4300	6503	32533744	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.779G>A	9.37:g.32543744C>T	ENSP00000353735:p.Arg260Gln		32533744	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481014	0.63849	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.24538	1.85;1.87	5.93	5.93	0.95920	.	0.000000	0.40908	D	0.000995	T	0.53222	0.1783	M	0.72576	2.205	0.53005	D	0.999962	D	0.89917	1.0	D	0.87578	0.998	T	0.48502	-0.9030	10	0.54805	T	0.06	-23.9253	19.1082	0.93305	0.0:1.0:0.0:0.0	.	260	Q9NS56	TOPRS_HUMAN	Q	260;195	ENSP00000353735:R260Q;ENSP00000369187:R195Q	ENSP00000353735:R260Q	R	-	2	0	TOPORS	32533744	1.000000	0.71417	0.968000	0.41197	0.973000	0.67179	7.459000	0.80802	2.805000	0.96524	0.655000	0.94253	CGA		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
DCAF12	25853	broad.mit.edu	37	9	34098342	34098342	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:34098342C>T	ENST00000361264.4	-	5	1116	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	259					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)		p.A259T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTGTTGAAGGCCAGAGCCCGA	0.483																																					p.A259T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	9						.						372.0	319.0	337.0					9																	34098342		2203	4300	6503	34088342	SO:0001583	missense	25853	exon5			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.775G>A	9.37:g.34098342C>T	ENSP00000355114:p.Ala259Thr		34088342	NM_015397	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054647	0.93793	.	.	ENSG00000198876	ENST00000361264	T	0.66995	-0.24	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	L	0.60845	1.875	0.80722	D	1	D	0.55800	0.973	P	0.51945	0.685	T	0.73269	-0.4036	10	0.42905	T	0.14	-9.8209	16.9957	0.86367	0.0:1.0:0.0:0.0	.	259	Q5T6F0	DCA12_HUMAN	T	259	ENSP00000355114:A259T	ENSP00000355114:A259T	A	-	1	0	DCAF12	34088342	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.007000	0.76335	2.446000	0.82766	0.655000	0.94253	GCC		0.483	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397	
CNTFR	1271	broad.mit.edu	37	9	34556288	34556288	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:34556288G>A	ENST00000378980.3	-	7	1026	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	CNTFR_ENST00000351266.4_Missense_Mutation_p.R245C	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	245	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.R245C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GGTCGGTAGCGCAGAAAGAAC	0.627																																					p.R245C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C733T	9						.						79.0	58.0	65.0					9																	34556288		2203	4300	6503	34546288	SO:0001583	missense	1271	exon7			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.733C>T	9.37:g.34556288G>A	ENSP00000368265:p.Arg245Cys		34546288	NM_147164	Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	g	33	5.215846	0.95104	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.75154	0.32;0.32;-0.91	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.209094	0.40222	N	0.001155	D	0.88500	0.6453	M	0.88704	2.975	0.40007	D	0.975237	D	0.89917	1.0	D	0.91635	0.999	D	0.90365	0.4376	9	0.87932	D	0	.	16.9684	0.86293	0.0:0.0:1.0:0.0	.	245	P26992	CNTFR_HUMAN	C	245	ENSP00000368265:R245C;ENSP00000242338:R245C;ENSP00000388082:R245C	ENSP00000242338:R245C	R	-	1	0	CNTFR	34546288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.203000	0.72137	2.592000	0.87571	0.651000	0.88453	CGC		0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1		
C9orf131	138724	broad.mit.edu	37	9	35045333	35045333	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:35045333C>T	ENST00000312292.5	+	2	2754	c.2707C>T	c.(2707-2709)Cca>Tca	p.P903S	C9orf131_ENST00000421362.2_Missense_Mutation_p.P855S|C9orf131_ENST00000354479.5_Missense_Mutation_p.P830S|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	903								p.P903S(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)			ATCCCAAGGGCCATGTGTACA	0.557																																					p.P830S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2488T	9						.						171.0	171.0	171.0					9																	35045333		2203	4300	6503	35035333	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.2707C>T	9.37:g.35045333C>T	ENSP00000308279:p.Pro903Ser		35035333	NM_001040411	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.097973	0.00360	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14516	2.5;2.5;2.5	3.74	-4.4	0.03600	.	1.619990	0.03563	N	0.227376	T	0.07234	0.0183	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.002	T	0.36890	-0.9729	10	0.06494	T	0.89	10.5286	7.0065	0.24840	0.1095:0.5713:0.0:0.3192	.	378;903;830;855	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	S	855;830;903;378	ENSP00000393683:P855S;ENSP00000346472:P830S;ENSP00000308279:P903S	ENSP00000308279:P903S	P	+	1	0	C9orf131	35035333	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.112000	0.15479	-1.602000	0.01599	-2.665000	0.00146	CCA		0.557	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
VCP	7415	broad.mit.edu	37	9	35062005	35062005	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:35062005C>T	ENST00000358901.6	-	9	1971	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	359					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.R359Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTTACCAAATCGCCGTAGAGC	0.493																																					p.R359Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1076A	9						.						245.0	175.0	198.0					9																	35062005		2203	4300	6503	35052005	SO:0001583	missense	7415	exon9			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1076G>A	9.37:g.35062005C>T	ENSP00000351777:p.Arg359Gln		35052005	NM_007126	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491838	0.96339	.	.	ENSG00000165280	ENST00000358901	D	0.95885	-3.84	6.17	6.17	0.99709	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98317	0.9442	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98360	1.0548	10	0.87932	D	0	-10.9587	20.8794	0.99867	0.0:1.0:0.0:0.0	.	359	P55072	TERA_HUMAN	Q	359	ENSP00000351777:R359Q	ENSP00000351777:R359Q	R	-	2	0	VCP	35052005	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGA		0.493	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126	
PIGO	84720	broad.mit.edu	37	9	35091815	35091815	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:35091815C>T	ENST00000378617.3	-	7	2463	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R690H|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	690					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.R690H(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)			ATTACCATAGCGGCGAAGCCA	0.607																																					p.R690H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2069A	9						.						28.0	30.0	30.0					9																	35091815		2202	4296	6498	35081815	SO:0001583	missense	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.2069G>A	9.37:g.35091815C>T	ENSP00000367880:p.Arg690His		35081815	NM_032634	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.604294	0.00849	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.54279	0.58;0.58	5.44	1.45	0.22620	.	0.334229	0.35013	N	0.003504	T	0.32615	0.0835	N	0.25144	0.715	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07888	-1.0749	10	0.15066	T	0.55	-13.7759	9.7972	0.40742	0.0:0.483:0.0:0.517	.	690	Q8TEQ8	PIGO_HUMAN	H	690	ENSP00000367880:R690H;ENSP00000339382:R690H	ENSP00000339382:R690H	R	-	2	0	PIGO	35081815	1.000000	0.71417	0.952000	0.39060	0.284000	0.27059	2.039000	0.41193	-0.086000	0.12550	-0.797000	0.03246	CGC		0.607	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
TPM2	7169	broad.mit.edu	37	9	35685107	35685107	+	Intron	SNP	C	C	T	rs1059780	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:35685107C>T	ENST00000360958.2	-	5	668				TPM2_ENST00000378292.3_Missense_Mutation_p.R198Q|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)						muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.R198Q(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCCATGGTTCGAAGTTCCTC	0.617																																					p.R198Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593A	9						.						84.0	82.0	82.0					9																	35685107		2203	4300	6503	35675107	SO:0001627	intron_variant	7169	exon6				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.563+158G>A	9.37:g.35685107C>T			35675107	NM_213674	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999925	0.74818	.	.	ENSG00000198467	ENST00000378292	D	0.97480	-4.4	5.15	5.15	0.70609	.	.	.	.	.	D	0.96364	0.8814	M	0.62723	1.935	0.80722	D	1	B;B	0.27882	0.112;0.192	B;B	0.32980	0.084;0.156	D	0.95200	0.8316	9	0.62326	D	0.03	.	18.4275	0.90614	0.0:1.0:0.0:0.0	.	198;198	A7XZE4;P07951-2	.;.	Q	198	ENSP00000367542:R198Q	ENSP00000367542:R198Q	R	-	2	0	TPM2	35675107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.762000	0.68809	2.673000	0.90976	0.655000	0.94253	CGA		0.617	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289	
TLN1	7094	broad.mit.edu	37	9	35699366	35699366	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:35699366A>G	ENST00000314888.9	-	51	7214	c.6861T>C	c.(6859-6861)gcT>gcC	p.A2287A	TLN1_ENST00000540444.1_Silent_p.A2175A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2287					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.A2287A(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCATGGCTTCAGCAGCCTGGA	0.567																																					p.A2287A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6861C	9						.						141.0	110.0	120.0					9																	35699366		2203	4300	6503	35689366	SO:0001819	synonymous_variant	7094	exon51			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6861T>C	9.37:g.35699366A>G			35689366	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	CCDS35009.1																																																																																				0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
GBA2	57704	broad.mit.edu	37	9	35749852	35749852	+	5'Flank	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:35749852G>A	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_Missense_Mutation_p.A34T|GBA2_ENST00000545786.1_5'UTR|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.A74T	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.A34T(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCGCCCACGGCCACTTCTGC	0.597																																					p.A34T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100A	9						.						48.0	52.0	51.0					9																	35749852		1979	4164	6143	35739852	SO:0001631	upstream_gene_variant	9827	exon2			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749852G>A	Exception_encountered		35739852	NM_001080496	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231247	0.58777	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.65	5.65	0.86999	.	0.055419	0.64402	D	0.000001	T	0.29882	0.0747	N	0.08118	0	0.45704	D	0.99861	B;B	0.23316	0.083;0.083	B;B	0.15052	0.012;0.012	T	0.17715	-1.0360	9	0.13853	T	0.58	-20.9461	12.6881	0.56960	0.0:0.0:0.8249:0.1751	.	34;34	Q92546;A8K0K1	RGP1_HUMAN;.	T	74;34	.	ENSP00000367318:A34T	A	+	1	0	RGP1	35739852	1.000000	0.71417	0.968000	0.41197	0.894000	0.52154	5.842000	0.69417	2.811000	0.96726	0.655000	0.94253	GCC		0.597	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944	
FAM221B	392307	broad.mit.edu	37	9	35825363	35825363	+	Silent	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:35825363T>G	ENST00000423537.2	-	3	875	c.606A>C	c.(604-606)acA>acC	p.T202T	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	202								p.T202T(1)		endometrium(2)|kidney(1)|lung(4)	7						CTGGGCGGGCTGTGTTACCTA	0.522																																					p.T202T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A606C	9						.						84.0	82.0	83.0					9																	35825363		1970	4162	6132	35815363	SO:0001819	synonymous_variant	392307	exon3			BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.606A>C	9.37:g.35825363T>G			35815363	NM_001012446	Q5TCW2	Silent	SNP	ENST00000423537.2	37	CCDS43799.2																																																																																				0.522	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446	
ZCCHC7	84186	broad.mit.edu	37	9	37126348	37126348	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:37126348G>A	ENST00000336755.5	+	2	125	c.19G>A	c.(19-21)Gag>Aag	p.E7K	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.E6K	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	7						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E7K(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TGGTGGCTATGAGACTATAGA	0.358																																					p.E7K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G19A	9						.						164.0	164.0	164.0					9																	37126348		2203	4300	6503	37116348	SO:0001583	missense	84186	exon2			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.19G>A	9.37:g.37126348G>A	ENSP00000337839:p.Glu7Lys		37116348	NM_032226	B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619306	0.87460	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.49139	1.37;0.79	5.55	5.55	0.83447	.	0.178229	0.49305	D	0.000149	T	0.65544	0.2701	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.64042	0.921;0.877	T	0.66448	-0.5921	10	0.72032	D	0.01	-5.2865	19.4509	0.94867	0.0:0.0:1.0:0.0	.	7;7	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	K	7;6	ENSP00000337839:E7K;ENSP00000316365:E6K	ENSP00000316365:E6K	E	+	1	0	ZCCHC7	37116348	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.676000	0.74498	2.759000	0.94783	0.637000	0.83480	GAG		0.358	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226	
POLR1E	64425	broad.mit.edu	37	9	37501715	37501715	+	Missense_Mutation	SNP	G	G	A	rs561301994		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:37501715G>A	ENST00000377798.4	+	11	1087	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	POLR1E_ENST00000442009.2_Missense_Mutation_p.R255Q|POLR1E_ENST00000377792.3_Missense_Mutation_p.R387Q	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R325Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTAGATTACGGAACTTAATT	0.353													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23314	0.0		0.0	False		,,,				2504	0.0				p.R325Q	Ovarian(116;843 1620 18506 32459 34463)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974A	9						.						117.0	114.0	115.0					9																	37501715		2203	4300	6503	37491715	SO:0001583	missense	64425	exon11			AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.974G>A	9.37:g.37501715G>A	ENSP00000367029:p.Arg325Gln		37491715	NM_022490	O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320423	0.23994	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.22743	1.94;1.94;1.94	5.82	2.96	0.34315	.	0.185942	0.49916	N	0.000132	T	0.09949	0.0244	N	0.17082	0.46	0.34055	D	0.656576	B;P;B	0.35481	0.029;0.504;0.041	B;B;B	0.28011	0.023;0.085;0.012	T	0.23726	-1.0180	10	0.36615	T	0.2	-11.84	6.9771	0.24681	0.3846:0.0:0.6154:0.0	.	255;387;325	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	Q	325;255;387	ENSP00000367029:R325Q;ENSP00000399887:R255Q;ENSP00000367023:R387Q	ENSP00000367023:R387Q	R	+	2	0	POLR1E	37491715	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	3.208000	0.51114	0.786000	0.33708	0.561000	0.74099	CGG		0.353	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490	
CNTNAP3	79937	broad.mit.edu	37	9	39176055	39176055	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:39176055G>A	ENST00000297668.6	-	7	1035	c.962C>T	c.(961-963)tCg>tTg	p.S321L	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S321L|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S233L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S321L|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S321L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	321	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S321L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAATGCCCGCGATCTTCCGGG	0.378																																					p.S321L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C962T	9						.						57.0	63.0	61.0					9																	39176055		2200	4297	6497	39166055	SO:0001583	missense	79937	exon7			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.962C>T	9.37:g.39176055G>A	ENSP00000297668:p.Ser321Leu		39166055	NM_033655	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100787	0.20552	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	3.09	2.16	0.27623	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.75939	0.3918	L	0.59436	1.845	0.21064	N	0.999798	P;B;B;B;B	0.40282	0.711;0.314;0.012;0.231;0.15	P;B;B;B;B	0.45610	0.487;0.151;0.003;0.104;0.108	T	0.63075	-0.6718	9	0.35671	T	0.21	.	8.3015	0.32017	0.127:0.0:0.873:0.0	.	321;321;321;321;321	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	L	321;321;233;321;321;233	ENSP00000297668:S321L;ENSP00000366884:S321L;ENSP00000350863:S233L;ENSP00000320728:S321L;ENSP00000366887:S321L	ENSP00000297668:S321L	S	-	2	0	CNTNAP3	39166055	0.995000	0.38212	0.001000	0.08648	0.047000	0.14425	6.153000	0.71819	0.597000	0.29811	0.460000	0.39030	TCG		0.378	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
ZNF658	26149	broad.mit.edu	37	9	40773183	40773183	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:40773183T>G	ENST00000602553.1	-	5	2386	c.2092A>C	c.(2092-2094)Aat>Cat	p.N698H	ZNF658_ENST00000377626.3_Missense_Mutation_p.N698H|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	698					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.N698H(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)		AGGGCTGAATTATGGGCAAAA	0.413																																					p.N698H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2092C	9						.						107.0	114.0	112.0					9																	40773183		1509	3177	4686	40763183	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.2092A>C	9.37:g.40773183T>G	ENSP00000473484:p.Asn698His		40763183	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.264581	0.23136	.	.	ENSG00000196409	ENST00000377626	T	0.07688	3.17	1.87	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	N	0.16037	0.36	0.09310	N	0.999999	D	0.54964	0.969	P	0.50708	0.648	T	0.33727	-0.9857	9	0.14656	T	0.56	.	7.7539	0.28913	0.0:0.0:0.0:1.0	.	698	Q5TYW1	ZN658_HUMAN	H	698	ENSP00000366853:N698H	ENSP00000366853:N698H	N	-	1	0	ZNF658	40763183	0.000000	0.05858	0.002000	0.10522	0.992000	0.81027	-0.250000	0.08830	1.129000	0.42072	0.423000	0.28283	AAT		0.413	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
PGM5	5239	broad.mit.edu	37	9	71094385	71094385	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:71094385T>C	ENST00000396396.1	+	8	1440	c.1211T>C	c.(1210-1212)cTc>cCc	p.L404P		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	404					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.L404P(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTGGTCTGGCTCTCCATTATT	0.517																																					p.L404P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1211C	9						.						123.0	124.0	124.0					9																	71094385		2203	4300	6503	70284205	SO:0001583	missense	5239	exon8			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1211T>C	9.37:g.71094385T>C	ENSP00000379678:p.Leu404Pro		70284205	NM_021965	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531247	0.85706	.	.	ENSG00000154330	ENST00000396396	T	0.57595	0.39	5.49	5.49	0.81192	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.065982	0.56097	D	0.000022	D	0.83566	0.5282	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90173	0.4237	10	0.87932	D	0	.	14.8526	0.70309	0.0:0.0:0.0:1.0	.	404	Q15124	PGM5_HUMAN	P	404	ENSP00000379678:L404P	ENSP00000379678:L404P	L	+	2	0	PGM5	70284205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.821000	0.86641	2.211000	0.71520	0.460000	0.39030	CTC		0.517	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965	
APBA1	320	broad.mit.edu	37	9	72056023	72056023	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:72056023C>A	ENST00000265381.4	-	11	2412	c.2190G>T	c.(2188-2190)aaG>aaT	p.K730N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	730	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.			K -> E (in Ref. 1; AAC05304 and 4; AAA61307). {ECO:0000305}.	axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.K730N(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGACTGATTCTTTAAGCCCT	0.483																																					p.K730N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2190T	9						.						122.0	106.0	112.0					9																	72056023		2203	4300	6503	71245843	SO:0001583	missense	320	exon11			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2190G>T	9.37:g.72056023C>A	ENSP00000265381:p.Lys730Asn		71245843	NM_001163	O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062073	0.76187	.	.	ENSG00000107282	ENST00000265381	T	0.29142	1.58	5.91	5.91	0.95273	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65623	-0.6123	10	0.87932	D	0	-28.4966	10.3018	0.43656	0.0:0.8509:0.0:0.1491	.	730	Q02410	APBA1_HUMAN	N	730	ENSP00000265381:K730N	ENSP00000265381:K730N	K	-	3	2	APBA1	71245843	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.994000	0.49433	2.793000	0.96121	0.655000	0.94253	AAG		0.483	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
SMC5	23137	broad.mit.edu	37	9	72897462	72897462	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:72897462A>G	ENST00000361138.5	+	7	1002	c.944A>G	c.(943-945)aAc>aGc	p.N315S		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	315					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.N315S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAATGGAAAACGAGCGTCAC	0.328																																					p.N315S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A944G	9						.						85.0	83.0	83.0					9																	72897462		2203	4300	6503	72087282	SO:0001583	missense	23137	exon7			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.944A>G	9.37:g.72897462A>G	ENSP00000354957:p.Asn315Ser		72087282	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	A	0.590	-0.833238	0.02713	.	.	ENSG00000198887	ENST00000361138	T	0.17054	2.3	5.61	-11.2	0.00127	RecF/RecN/SMC (1);	1.266210	0.04778	N	0.429257	T	0.05318	0.0141	N	0.04508	-0.205	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.19031	-1.0318	10	0.12430	T	0.62	4.5657	7.102	0.25343	0.6488:0.1589:0.113:0.0792	.	315	Q8IY18	SMC5_HUMAN	S	315	ENSP00000354957:N315S	ENSP00000354957:N315S	N	+	2	0	SMC5	72087282	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.689000	0.05144	-2.593000	0.00455	-1.167000	0.01749	AAC		0.328	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	
TRPM3	80036	broad.mit.edu	37	9	73213472	73213472	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:73213472G>A	ENST00000377111.2	-	20	3118	c.2875C>T	c.(2875-2877)Cgt>Tgt	p.R959C	TRPM3_ENST00000396285.1_Missense_Mutation_p.R806C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R821C|TRPM3_ENST00000377110.3_Missense_Mutation_p.R959C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R808C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R831C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R818C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R986C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R831C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R818C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R821C|TRPM3_ENST00000357533.2_Missense_Mutation_p.R963C	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	984					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.R831C(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						TCTTGGAGACGAAGGATCATT	0.507																																					p.R959C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2875T	9						.						144.0	125.0	131.0					9																	73213472		2203	4300	6503	72403292	SO:0001583	missense	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.2875C>T	9.37:g.73213472G>A	ENSP00000366315:p.Arg959Cys		72403292	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.668340|4.668340	0.88348|0.88348	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.71698|.	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87047|0.87047	0.6080|0.6080	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.998;0.997;1.0;0.999|.	D;D;D;D;D;P;D;D|.	0.97110|.	0.999;0.999;0.999;1.0;0.988;0.896;0.999;0.937|.	D|D	0.91130|0.91130	0.4937|0.4937	10|5	0.87932|.	D|.	0|.	-7.5541|-7.5541	18.0357|18.0357	0.89302|0.89302	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	959;959;949;963;821;818;931;806|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	C|L	959;959;831;821;818;963;818;806;831;821;986|807	ENSP00000366315:R959C;ENSP00000366314:R959C;ENSP00000366310:R831C;ENSP00000354066:R821C;ENSP00000366309:R818C;ENSP00000350140:R963C;ENSP00000386127:R818C;ENSP00000379581:R806C;ENSP00000379587:R831C;ENSP00000350791:R821C;ENSP00000389542:R986C|.	ENSP00000350140:R963C|.	R|S	-|-	1|2	0|0	TRPM3|TRPM3	72403292|72403292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.862000|7.862000	0.87013|0.87013	2.324000|2.324000	0.78689|0.78689	0.573000|0.573000	0.79308|0.79308	CGT|TCG		0.507	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TMEM2	23670	broad.mit.edu	37	9	74345136	74345136	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:74345136G>T	ENST00000377044.4	-	9	2346	c.1807C>A	c.(1807-1809)Cat>Aat	p.H603N	TMEM2_ENST00000377066.5_Missense_Mutation_p.H540N	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	603					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.H603N(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)		AAGAAACAATGACCTAGTGTG	0.403																																					p.H603N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1807A	9						.						100.0	94.0	96.0					9																	74345136		2203	4300	6503	73534956	SO:0001583	missense	23670	exon9				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.1807C>A	9.37:g.74345136G>T	ENSP00000366243:p.His603Asn		73534956	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830766	0.91036	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.57595	0.39;0.39	5.63	5.63	0.86233	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.85099	2.735	0.80722	D	1	D;D	0.59357	0.974;0.985	P;P	0.60068	0.677;0.868	T	0.78130	-0.2324	10	0.66056	D	0.02	.	19.6697	0.95907	0.0:0.0:1.0:0.0	.	603;540	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	N	603;540	ENSP00000366243:H603N;ENSP00000366266:H540N	ENSP00000366243:H603N	H	-	1	0	TMEM2	73534956	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.320000	0.96346	2.649000	0.89929	0.585000	0.79938	CAT		0.403	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
TMC1	117531	broad.mit.edu	37	9	75404098	75404098	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:75404098C>A	ENST00000297784.5	+	15	1629	c.1089C>A	c.(1087-1089)ttC>ttA	p.F363L	TMC1_ENST00000396237.3_Missense_Mutation_p.F363L|TMC1_ENST00000340019.3_Missense_Mutation_p.F363L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	363					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.F363L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGATCAGATTCCTGAGGTTTC	0.423																																					p.F363L	Pancreas(75;173 1345 14232 34245 43413)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1089A	9						.						123.0	113.0	116.0					9																	75404098		2203	4300	6503	74593918	SO:0001583	missense	117531	exon15			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1089C>A	9.37:g.75404098C>A	ENSP00000297784:p.Phe363Leu		74593918	NM_138691	A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679166	0.68042	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	D;D;D	0.81996	-1.56;-1.56;-1.56	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	L	0.58302	1.8	0.50632	D	0.999884	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.81914	0.989;0.989;0.995	D	0.84722	0.0740	10	0.09590	T	0.72	-28.1345	16.034	0.80608	0.0:0.9353:0.0:0.0647	.	330;330;363	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	L	363;363;330;330;330;357;363	ENSP00000297784:F363L;ENSP00000341433:F363L;ENSP00000379538:F363L	ENSP00000297784:F363L	F	+	3	2	TMC1	74593918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.124000	0.42006	1.596000	0.50062	0.655000	0.94253	TTC		0.423	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
VPS13A	23230	broad.mit.edu	37	9	79936594	79936594	+	Missense_Mutation	SNP	G	G	A	rs145524733		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:79936594G>A	ENST00000360280.3	+	44	6022	c.5762G>A	c.(5761-5763)cGa>cAa	p.R1921Q	VPS13A_ENST00000357409.5_Missense_Mutation_p.R1921Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1921Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1882Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1921					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.R1921Q(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						GATTATATCCGAACCAAGGAC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		16128	0.0		0.0	False		,,,				2504	0.001				p.R1882Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5645A	9						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	82.0	83.0		5645,5762,5762,5762	1.7	0.1	9	dbSNP_134	83	0,8598		0,0,4299	no	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	43,43,43,43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	1882/3136,1921/3070,1921/3096,1921/3175	79936594	1,13003	2203	4299	6502	79126414	SO:0001583	missense	23230	exon43			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.5762G>A	9.37:g.79936594G>A	ENSP00000353422:p.Arg1921Gln		79126414	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.906|8.906	0.957552|0.957552	0.18507|0.18507	2.27E-4|2.27E-4	0.0|0.0	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.47177	.|1.04;0.85;0.93;1.02	5.8|5.8	1.72|1.72	0.24424|0.24424	.|.	.|0.301547	.|0.31734	.|N	.|0.007142	T|T	0.28234|0.28234	0.0697|0.0697	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32653	.|0.198;0.014;0.125;0.379;0.194	.|B;B;B;B;B	.|0.20577	.|0.022;0.01;0.01;0.03;0.03	T|T	0.09862|0.09862	-1.0655|-1.0655	5|10	.|0.24483	.|T	.|0.36	.|.	5.2856|5.2856	0.15700|0.15700	0.1945:0.0:0.5611:0.2444|0.1945:0.0:0.5611:0.2444	.|.	.|173;1882;1921;1921;1921	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	K|Q	174|1921;1882;1921;1921	.|ENSP00000365821:R1921Q;ENSP00000365823:R1882Q;ENSP00000353422:R1921Q;ENSP00000349985:R1921Q	.|ENSP00000349985:R1921Q	E|R	+|+	1|2	0|0	VPS13A|VPS13A	79126414|79126414	0.986000|0.986000	0.35501|0.35501	0.145000|0.145000	0.22337|0.22337	0.907000|0.907000	0.53573|0.53573	2.198000|2.198000	0.42705|0.42705	0.321000|0.321000	0.23259|0.23259	0.467000|0.467000	0.42956|0.42956	GAA|CGA		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79952237	79952237	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:79952237G>T	ENST00000360280.3	+	47	6422	c.6162G>T	c.(6160-6162)gaG>gaT	p.E2054D	VPS13A_ENST00000357409.5_Missense_Mutation_p.E2054D|VPS13A_ENST00000376634.4_Missense_Mutation_p.E2054D|VPS13A_ENST00000376636.3_Missense_Mutation_p.E2015D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2054					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.E2054D(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						ACTTTGAAGAGATTATAAAAA	0.289																																					p.E2015D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6045T	9						.						40.0	43.0	42.0					9																	79952237		2201	4295	6496	79142057	SO:0001583	missense	23230	exon46			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.6162G>T	9.37:g.79952237G>T	ENSP00000353422:p.Glu2054Asp		79142057	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.23|10.23	1.292633|1.292633	0.23564|0.23564	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|.	0.41758|.	1.18;0.99;1.08;1.17|.	5.3|5.3	2.9|2.9	0.33743|0.33743	.|.	0.206543|.	0.43110|.	N|.	0.000609|.	T|T	0.54431|0.54431	0.1858|0.1858	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.26483|.	0.033;0.043;0.15;0.088;0.088|.	B;B;B;B;B|.	0.23574|.	0.034;0.034;0.039;0.047;0.047|.	T|T	0.47799|0.47799	-0.9089|-0.9089	10|5	0.10636|.	T|.	0.68|.	.|.	2.9386|2.9386	0.05823|0.05823	0.6303:0.1488:0.0782:0.1427|0.6303:0.1488:0.0782:0.1427	.|.	306;2015;2054;2054;2054|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	D|I	2054;2015;2054;2054|307	ENSP00000365821:E2054D;ENSP00000365823:E2015D;ENSP00000353422:E2054D;ENSP00000349985:E2054D|.	ENSP00000349985:E2054D|.	E|R	+|+	3|2	2|0	VPS13A|VPS13A	79142057|79142057	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.553000|0.553000	0.35397|0.35397	2.049000|2.049000	0.41288|0.41288	0.313000|0.313000	0.23062|0.23062	-0.312000|-0.312000	0.09012|0.09012	GAG|AGA		0.289	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
CEP78	84131	broad.mit.edu	37	9	80866877	80866877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:80866877G>T	ENST00000424347.2	+	9	1412	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	CEP78_ENST00000415759.2_Nonsense_Mutation_p.E376*|CEP78_ENST00000376597.4_Nonsense_Mutation_p.E376*|CEP78_ENST00000376598.2_Nonsense_Mutation_p.E375*|CEP78_ENST00000277082.5_Nonsense_Mutation_p.E375*			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	375					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.E375K(1)|p.E375*(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CCTTGGTAAAGAATATTATGC	0.433																																					p.E376X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(2)	c.G1126T	9						.						49.0	50.0	50.0					9																	80866877		1876	4122	5998	80056697	SO:0001587	stop_gained	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.1123G>T	9.37:g.80866877G>T	ENSP00000411284:p.Glu375*		80056697	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Nonsense_Mutation	SNP	ENST00000424347.2	37		.	.	.	.	.	.	.	.	.	.	G	28.5	4.922125	0.92319	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	.	.	.	5.86	4.94	0.65067	.	0.670270	0.14998	N	0.286264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.7423	15.9581	0.79902	0.0:0.1351:0.8649:0.0	.	.	.	.	X	375;375;376;376;375;375	.	ENSP00000277082:E375X	E	+	1	0	CEP78	80056697	1.000000	0.71417	0.873000	0.34254	0.429000	0.31625	6.269000	0.72558	1.446000	0.47643	0.655000	0.94253	GAA		0.433	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	
CEP78	84131	broad.mit.edu	37	9	80879182	80879182	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:80879182G>T	ENST00000424347.2	+	13	1864	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	CEP78_ENST00000415759.2_Missense_Mutation_p.E526D|CEP78_ENST00000376597.4_Missense_Mutation_p.E526D|CEP78_ENST00000376598.2_Missense_Mutation_p.E525D|CEP78_ENST00000277082.5_Missense_Mutation_p.E525D			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	525					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.E525D(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCAGCATTGAGAATTCTTTTC	0.393																																					p.E526D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1578T	9						.						111.0	107.0	108.0					9																	80879182		1857	4098	5955	80069002	SO:0001583	missense	84131	exon13			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.1575G>T	9.37:g.80879182G>T	ENSP00000411284:p.Glu525Asp		80069002	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.193437	0.78902	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.69040	-0.31;-0.15;-0.37;-0.32;-0.34	5.49	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.77103	2.36	0.40405	D	0.979695	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	T	0.82047	-0.0651	10	0.87932	D	0	-21.0982	9.7734	0.40603	0.1563:0.0:0.8437:0.0	.	526;526;525	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	D	525;525;526;526;525;525	ENSP00000411284:E525D;ENSP00000399286:E526D;ENSP00000365782:E526D;ENSP00000277082:E525D;ENSP00000365783:E525D	ENSP00000277082:E525D	E	+	3	2	CEP78	80069002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.455000	0.60075	1.302000	0.44855	0.563000	0.77884	GAG		0.393	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	
UBQLN1	29979	broad.mit.edu	37	9	86300963	86300963	+	Silent	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:86300963A>G	ENST00000376395.4	-	2	811	c.288T>C	c.(286-288)atT>atC	p.I96I	UBQLN1_ENST00000257468.7_Silent_p.I96I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	96	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.I96I(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GTCCATCATGAATTCCATGCT	0.328																																					p.I96I	Melanoma(186;1284 2073 12755 14558 18426)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T288C	9						.						108.0	99.0	102.0					9																	86300963		2203	4300	6503	85490783	SO:0001819	synonymous_variant	29979	exon2			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.288T>C	9.37:g.86300963A>G			85490783	NM_053067	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Silent	SNP	ENST00000376395.4	37	CCDS6663.1																																																																																				0.328	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438	
RMI1	80010	broad.mit.edu	37	9	86615974	86615974	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:86615974A>G	ENST00000325875.3	+	3	405	c.73A>G	c.(73-75)Atg>Gtg	p.M25V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	25					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.M25V(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AGTACCTCCGATGTGGCTGGA	0.353																																					p.M25V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A73G	9						.						107.0	117.0	113.0					9																	86615974		2203	4300	6503	85805794	SO:0001583	missense	80010	exon3			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.73A>G	9.37:g.86615974A>G	ENSP00000317039:p.Met25Val		85805794	NM_024945	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	A	2.514	-0.312349	0.05422	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.41065	1.01;1.01	5.87	3.48	0.39840	Domain of unknown function DUF1767 (1);	0.382880	0.31760	N	0.007118	T	0.23451	0.0567	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.09015	-1.0694	10	0.31617	T	0.26	-7.1399	3.3865	0.07273	0.5446:0.259:0.0695:0.1269	.	25	Q9H9A7	RMI1_HUMAN	V	25	ENSP00000402433:M25V;ENSP00000317039:M25V	ENSP00000317039:M25V	M	+	1	0	RMI1	85805794	0.000000	0.05858	0.140000	0.22221	0.784000	0.44337	0.686000	0.25392	1.113000	0.41760	0.533000	0.62120	ATG		0.353	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
RMI1	80010	broad.mit.edu	37	9	86616839	86616839	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:86616839A>C	ENST00000325875.3	+	3	1270	c.938A>C	c.(937-939)gAc>gCc	p.D313A		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	313					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.D313A(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GAATTAGATGACTTTTCACTG	0.378																																					p.D313A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A938C	9						.						56.0	57.0	56.0					9																	86616839		2202	4299	6501	85806659	SO:0001583	missense	80010	exon3			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.938A>C	9.37:g.86616839A>C	ENSP00000317039:p.Asp313Ala		85806659	NM_024945	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022453	0.54683	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.58506	0.33;0.93	5.52	5.52	0.82312	.	0.238909	0.40554	N	0.001073	T	0.73860	0.3641	M	0.68952	2.095	0.39750	D	0.97187	D	0.89917	1.0	D	0.91635	0.999	T	0.77435	-0.2589	10	0.62326	D	0.03	-10.3482	14.5164	0.67821	1.0:0.0:0.0:0.0	.	313	Q9H9A7	RMI1_HUMAN	A	313	ENSP00000402433:D313A;ENSP00000317039:D313A	ENSP00000317039:D313A	D	+	2	0	RMI1	85806659	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.994000	0.63901	2.216000	0.71823	0.533000	0.62120	GAC		0.378	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
RMI1	80010	broad.mit.edu	37	9	86617326	86617326	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:86617326G>T	ENST00000325875.3	+	3	1757	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	475					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.E475D(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GATCATCAGAGAATAGCATTA	0.328																																					p.E475D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1425T	9						.						66.0	70.0	68.0					9																	86617326		2203	4299	6502	85807146	SO:0001583	missense	80010	exon3			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1425G>T	9.37:g.86617326G>T	ENSP00000317039:p.Glu475Asp		85807146	NM_024945	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.346964	0.01266	.	.	ENSG00000178966	ENST00000325875	T	0.33865	1.39	5.29	4.39	0.52855	.	0.381312	0.22721	N	0.056455	T	0.21590	0.0520	L	0.34521	1.04	0.25057	N	0.991097	P	0.37525	0.598	B	0.32211	0.142	T	0.11372	-1.0590	9	.	.	.	-20.6761	5.5965	0.17329	0.0772:0.1383:0.6417:0.1427	.	475	Q9H9A7	RMI1_HUMAN	D	475	ENSP00000317039:E475D	.	E	+	3	2	RMI1	85807146	0.456000	0.25744	0.753000	0.31225	0.069000	0.16628	0.358000	0.20216	1.345000	0.45676	0.563000	0.77884	GAG		0.328	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
SLC28A3	64078	broad.mit.edu	37	9	86905076	86905076	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:86905076G>T	ENST00000376238.4	-	11	1191	c.1142C>A	c.(1141-1143)tCt>tAt	p.S381Y	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.S312Y	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	381					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.S381Y(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TACCCCAAAAGAAATGTATGC	0.418																																					p.S381Y	Ovarian(106;425 1539 34835 42413 43572)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1142A	9						.						100.0	96.0	97.0					9																	86905076		2203	4300	6503	86094896	SO:0001583	missense	64078	exon12			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1142C>A	9.37:g.86905076G>T	ENSP00000365413:p.Ser381Tyr		86094896	NM_022127	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093008	0.94149	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.31769	1.48;1.48	5.82	5.82	0.92795	Nucleoside recognition (1);	0.178824	0.51477	D	0.000087	T	0.65893	0.2735	M	0.90650	3.135	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.71951	-0.4437	10	0.87932	D	0	-25.841	20.1008	0.97874	0.0:0.0:1.0:0.0	.	381	Q9HAS3	S28A3_HUMAN	Y	381;312	ENSP00000365413:S381Y;ENSP00000446438:S312Y	ENSP00000365413:S381Y	S	-	2	0	SLC28A3	86094896	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.640000	0.98453	2.756000	0.94617	0.563000	0.77884	TCT		0.418	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
NTRK2	4915	broad.mit.edu	37	9	87285819	87285819	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:87285819C>T	ENST00000323115.4	+	1	509	c.156C>T	c.(154-156)atC>atT	p.I52I	NTRK2_ENST00000304053.6_Silent_p.I52I|NTRK2_ENST00000376214.1_Silent_p.I52I|NTRK2_ENST00000376208.1_Silent_p.I52I|NTRK2_ENST00000277120.3_Silent_p.I52I|NTRK2_ENST00000359847.3_Silent_p.I52I|NTRK2_ENST00000395882.1_Silent_p.I52I|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000376213.1_Silent_p.I52I			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	52	LRRNT.				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.I52I(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)	CTCCTGGCATCGTGGCATTTC	0.562										TSP Lung(25;0.17)																											p.I52I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C156T	9						.						108.0	91.0	97.0					9																	87285819		2203	4300	6503	86475639	SO:0001819	synonymous_variant	4915	exon2			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.156C>T	9.37:g.87285819C>T			86475639	NM_001018066	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	CCDS35050.1																																																																																				0.562	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
DAPK1	1612	broad.mit.edu	37	9	90283585	90283585	+	Missense_Mutation	SNP	G	G	A	rs369031259		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:90283585G>A	ENST00000408954.3	+	19	2332	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	DAPK1_ENST00000472284.1_Missense_Mutation_p.R666Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.R666Q|DAPK1_ENST00000469640.2_Missense_Mutation_p.R666Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.R666Q|DAPK1_ENST00000466188.1_3'UTR	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	666					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.R666Q(1)|p.R667Q(1)		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						GCAAGACTTCGAAAGGTGAGA	0.423									Chronic Lymphocytic Leukemia, Familial Clustering of				G|||	1	0.000199681	0.0	0.0	5008	,	,		22864	0.0		0.0	False		,,,				2504	0.001				p.R666Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1997A	9						.	G	GLN/ARG	0,3792		0,0,1896	235.0	239.0	238.0		1997	4.7	1.0	9		238	1,8225		0,1,4112	no	missense	DAPK1	NM_004938.2	43	0,1,6008	AA,AG,GG		0.0122,0.0,0.0083	benign	666/1431	90283585	1,12017	1896	4113	6009	89473405	SO:0001583	missense	1612	exon19	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.1997G>A	9.37:g.90283585G>A	ENSP00000386135:p.Arg666Gln		89473405	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108931	0.56398	0.0	1.22E-4	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65732	-0.16;-0.16;-0.17;-0.16;-0.16	4.73	4.73	0.59995	.	0.000000	0.40144	N	0.001164	T	0.57154	0.2034	L	0.34521	1.04	0.36941	D	0.892386	D;D;B	0.59357	0.985;0.957;0.196	P;B;B	0.50617	0.646;0.324;0.018	T	0.64871	-0.6305	10	0.59425	D	0.04	.	9.0526	0.36385	0.0989:0.0:0.9011:0.0	.	666;220;666	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	Q	666	ENSP00000350785:R666Q;ENSP00000417076:R666Q;ENSP00000418885:R666Q;ENSP00000386135:R666Q;ENSP00000419026:R666Q	ENSP00000350785:R666Q	R	+	2	0	DAPK1	89473405	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.835000	0.55805	2.601000	0.87937	0.491000	0.48974	CGA		0.423	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
CDK20	23552	broad.mit.edu	37	9	90588944	90588944	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:90588944C>T	ENST00000325303.8	-	2	387	c.82G>A	c.(82-84)Gag>Aag	p.E28K	CDK20_ENST00000336654.5_Missense_Mutation_p.E41K|CDK20_ENST00000375883.3_Missense_Mutation_p.E28K|CDK20_ENST00000375871.4_Missense_Mutation_p.E28K|CDK20_ENST00000605159.1_Missense_Mutation_p.E28K	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E28K(1)		skin(1)	1						GCAACTATCTCGCCAGTCTGC	0.592																																					p.E28K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82A	9						.						67.0	66.0	66.0					9																	90588944		2203	4300	6503	89778764	SO:0001583	missense	23552	exon2			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.82G>A	9.37:g.90588944C>T	ENSP00000322343:p.Glu28Lys		89778764	NM_001170640	A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	37	CCDS35060.1	.	.	.	.	.	.	.	.	.	.	.	17.87	3.494021	0.64186	.	.	ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000375871;ENST00000325303;ENST00000286878	T;T;T;T	0.64438	-0.1;0.92;-0.1;-0.1	4.55	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055575	0.64402	D	0.000001	T	0.51041	0.1651	N	0.26162	0.8	0.58432	D	0.999999	P;B;P;B	0.38395	0.477;0.441;0.629;0.019	B;B;B;B	0.39339	0.08;0.297;0.235;0.025	T	0.57359	-0.7825	10	0.56958	D	0.05	-23.4778	13.1841	0.59672	0.0:1.0:0.0:0.0	.	28;41;28;28	Q8IZL9-2;A2A390;E7EQ88;Q8IZL9	.;.;.;CDK20_HUMAN	K	28;41;28;28;28	ENSP00000365043:E28K;ENSP00000338975:E41K;ENSP00000365031:E28K;ENSP00000322343:E28K	ENSP00000286878:E28K	E	-	1	0	CDK20	89778764	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.198000	0.58419	2.260000	0.74910	0.555000	0.69702	GAG		0.592	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119	
RP13-60M5.2	0	broad.mit.edu	37	9	91266920	91266920	+	lincRNA	SNP	G	G	T	rs370441094		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:91266920G>T	ENST00000418343.2	-	0	131																											GTGAGGCTTAGAGTGAGGACT	0.438																																					p.S8Y												.	.	0			c.C23A	9						.						146.0	141.0	143.0					9																	91266920		1946	4141	6087	90456740			286238	exon1																															9.37:g.91266920G>T			90456740	NM_001100111		Missense_Mutation	SNP	ENST00000418343.2	37																																																																																					0.438	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2		
SPTLC1	10558	broad.mit.edu	37	9	94821461	94821461	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:94821461C>A	ENST00000262554.2	-	7	695	c.690G>T	c.(688-690)aaG>aaT	p.K230N	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	230					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.K230N(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	AGAATCATACCTTTTGATCTT	0.338																																					p.K230N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G690T	9						.						67.0	64.0	65.0					9																	94821461		2203	4300	6503	93861282	SO:0001630	splice_region_variant	10558	exon7			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.690+1G>T	9.37:g.94821461C>A			93861282	NM_006415	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585788	0.86748	.	.	ENSG00000090054	ENST00000262554	D	0.95205	-3.64	5.09	5.09	0.68999	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.044408	0.85682	D	0.000000	D	0.93930	0.8057	M	0.71206	2.165	0.80722	D	1	P;B;B	0.36837	0.571;0.343;0.251	B;B;B	0.39152	0.285;0.236;0.292	D	0.92926	0.6359	9	.	.	.	-27.5302	17.2258	0.86970	0.0:1.0:0.0:0.0	.	230;225;230	Q6NUL7;Q59EQ4;O15269	.;.;SPTC1_HUMAN	N	230	ENSP00000262554:K230N	.	K	-	3	2	SPTLC1	93861282	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.389000	0.79806	2.822000	0.97130	0.557000	0.71058	AAG		0.338	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	Missense_Mutation
OGN	4969	broad.mit.edu	37	9	95152322	95152322	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:95152322G>A	ENST00000262551.4	-	5	864	c.444C>T	c.(442-444)ctC>ctT	p.L148L	OGN_ENST00000375561.5_Silent_p.L148L|CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	148					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.L148L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						CTGTAAAATCGAGTCTTCTTA	0.289																																					p.L148L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	9						.						52.0	56.0	55.0					9																	95152322		2203	4298	6501	94192143	SO:0001819	synonymous_variant	4969	exon5			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.444C>T	9.37:g.95152322G>A			94192143	NM_014057	Q6FIB0|Q9UF90|Q9UNK5	Silent	SNP	ENST00000262551.4	37	CCDS6695.1																																																																																				0.289	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416	
FANCC	2176	broad.mit.edu	37	9	97864002	97864002	+	Missense_Mutation	SNP	C	C	T	rs369636116		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:97864002C>T	ENST00000289081.3	-	15	1918	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	FANCC_ENST00000375305.1_Missense_Mutation_p.R555Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	555					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.R555Q(1)		kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GACTTGAGTTCGCAGCTCTTT	0.552			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R555Q		yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1664A	9						.	C	GLN/ARG	0,4406		0,0,2203	59.0	55.0	57.0		1664	-4.0	0.0	9		57	1,8599		0,1,4299	no	missense	FANCC	NM_000136.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	555/559	97864002	1,13005	2203	4300	6503	96903823	SO:0001583	missense	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.1664G>A	9.37:g.97864002C>T	ENSP00000289081:p.Arg555Gln		96903823	NM_000136	B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	6.378	0.437776	0.12104	0.0	1.16E-4	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.49720	0.77;0.77	3.9	-4.01	0.04045	.	1.786430	0.02718	N	0.113663	T	0.29945	0.0749	N	0.25144	0.715	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17501	-1.0367	10	0.11182	T	0.66	0.6478	8.2542	0.31746	0.0:0.1887:0.1293:0.682	.	555	Q00597	FANCC_HUMAN	Q	555	ENSP00000289081:R555Q;ENSP00000364454:R555Q	ENSP00000289081:R555Q	R	-	2	0	FANCC	96903823	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	-2.224000	0.01213	-0.930000	0.03752	-0.459000	0.05422	CGA		0.552	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136	
ERCC6L2	375748	broad.mit.edu	37	9	98643394	98643394	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:98643394G>A	ENST00000288985.7	+	2	628	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	108					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.R108Q(1)									TTCCCAAACCGAAAATTTCCA	0.323																																					p.R108Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G323A	9						.						56.0	59.0	58.0					9																	98643394		2203	4300	6503	97683215	SO:0001583	missense	375748	exon2			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.323G>A	9.37:g.98643394G>A	ENSP00000288985:p.Arg108Gln		97683215	NM_001010895	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	G	9.111	1.006495	0.19199	.	.	ENSG00000182150	ENST00000288985	D	0.89875	-2.58	5.12	1.18	0.20946	.	0.284276	0.22544	N	0.058690	T	0.81019	0.4736	L	0.42245	1.32	0.09310	N	0.999994	B	0.14438	0.01	B	0.06405	0.002	T	0.61048	-0.7141	10	0.11485	T	0.65	-1.1759	9.9138	0.41421	0.3747:0.0:0.6253:0.0	.	108	Q5T890	RAD26_HUMAN	Q	108	ENSP00000288985:R108Q	ENSP00000288985:R108Q	R	+	2	0	C9orf102	97683215	0.096000	0.21769	0.793000	0.32043	0.936000	0.57629	0.393000	0.20817	0.122000	0.18314	0.585000	0.79938	CGA		0.323	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	
HSD17B3	3293	broad.mit.edu	37	9	99006625	99006625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:99006625C>A	ENST00000375263.3	-	9	705	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	HSD17B3_ENST00000375262.2_Nonsense_Mutation_p.E220*|HSD17B3_ENST00000464104.1_5'UTR|RP11-240L7.4_ENST00000448857.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	220					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)	p.E220*(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				ATGATGACTTCTTTTGCTTTA	0.552																																					p.E220X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G658T	9						.						240.0	201.0	214.0					9																	99006625		2203	4300	6503	98046446	SO:0001587	stop_gained	3293	exon9				CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.658G>T	9.37:g.99006625C>A	ENSP00000364412:p.Glu220*		98046446	NM_000197	Q5U0Q6	Nonsense_Mutation	SNP	ENST00000375263.3	37	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896198	0.72639	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	.	.	.	4.84	1.95	0.26073	.	0.282157	0.39615	N	0.001310	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	5.3152	9.4067	0.38466	0.0:0.7544:0.0:0.2456	.	.	.	.	X	220	.	ENSP00000364411:E220X	E	-	1	0	HSD17B3	98046446	1.000000	0.71417	0.358000	0.25811	0.016000	0.09150	2.656000	0.46716	0.652000	0.30806	-0.145000	0.13849	GAA		0.552	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197	
CDC14B	8555	broad.mit.edu	37	9	99327714	99327714	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:99327714A>G	ENST00000375241.1	-	2	663	c.212T>C	c.(211-213)gTa>gCa	p.V71A	CDC14B_ENST00000375236.1_Missense_Mutation_p.V71A|CDC14B_ENST00000463569.1_Missense_Mutation_p.V71A|CDC14B_ENST00000375242.3_Missense_Mutation_p.V34A|CDC14B_ENST00000265659.2_Missense_Mutation_p.V71A|CDC14B_ENST00000375240.3_Missense_Mutation_p.V71A	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	71	A.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V71A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GAAATAATGTACATTTGATGC	0.323																																					p.V34A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T101C	9						.						124.0	125.0	125.0					9																	99327714		2203	4300	6503	98367535	SO:0001583	missense	8555	exon2			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.212T>C	9.37:g.99327714A>G	ENSP00000364389:p.Val71Ala		98367535	NM_001077181	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317495	0.23908	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236;ENST00000415608	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	4.26	3.07	0.35406	.	0.535434	0.18427	N	0.141557	T	0.20861	0.0502	N	0.13098	0.295	0.24208	N	0.99549	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.11329	0.006;0.003;0.001	T	0.11324	-1.0592	10	0.32370	T	0.25	-9.2854	2.5542	0.04756	0.4729:0.0:0.2112:0.3158	.	71;71;34	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	A	71;71;71;34;71;71;55	ENSP00000265659:V71A;ENSP00000364389:V71A;ENSP00000364388:V71A;ENSP00000364390:V34A;ENSP00000420572:V71A;ENSP00000364384:V71A;ENSP00000400480:V55A	ENSP00000265659:V71A	V	-	2	0	CDC14B	98367535	0.918000	0.31147	0.997000	0.53966	0.988000	0.76386	1.313000	0.33585	0.709000	0.31976	0.460000	0.39030	GTA		0.323	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	
AAED1	195827	broad.mit.edu	37	9	99413723	99413723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:99413723C>A	ENST00000375234.3	-	4	369	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	124								p.E124*(1)									TTATAAATTTCTCTCTCAGGA	0.353																																					p.E124X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G370T	9						.						69.0	66.0	67.0					9																	99413723		2202	4300	6502	98453544	SO:0001587	stop_gained	195827	exon4			BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 21"""	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.370G>T	9.37:g.99413723C>A	ENSP00000364382:p.Glu124*		98453544	NM_153698	B2RMW4|Q5JU02	Nonsense_Mutation	SNP	ENST00000375234.3	37	CCDS35073.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.8|22.8|22.8	4.338308|4.338308|4.338308	0.81911|0.81911|0.81911	.|.|.	.|.|.	ENSG00000158122|ENSG00000158122|ENSG00000158122	ENST00000411939|ENST00000375234;ENST00000375233|ENST00000446045	.|.|T	.|.|0.48836	.|.|0.8	4.72|4.72|4.72	3.74|3.74|3.74	0.42951|0.42951|0.42951	.|.|.	0.437648|0.437648|.	0.25122|0.25122|.	N|N|.	0.032961|0.032961|.	T|.|T	0.57257|.|0.57257	0.2041|.|0.2041	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.69712|.|0.69712	-0.5071|.|-0.5071	4|.|5	.|0.11485|0.66056	.|T|D	.|0.65|0.02	-11.4368|-11.4368|-11.4368	11.9602|11.9602|11.9602	0.53005|0.53005|0.53005	0.0:0.9013:0.0:0.0987|0.0:0.9013:0.0:0.0987|0.0:0.9013:0.0:0.0987	.|.|.	.|.|.	.|.|.	.|.|.	D|X|I	51|124|77	.|.|ENSP00000398933:R77I	.|ENSP00000364381:E124X|ENSP00000398933:R77I	E|E|R	-|-|-	3|1|2	2|0|0	C9orf21|C9orf21|C9orf21	98453544|98453544|98453544	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	2.095000|2.095000|2.095000	0.41729|0.41729|0.41729	2.456000|2.456000|2.456000	0.83038|0.83038|0.83038	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAA|AGA		0.353	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698	
ZNF510	22869	broad.mit.edu	37	9	99521337	99521337	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:99521337C>A	ENST00000375231.1	-	6	2425	c.1775G>T	c.(1774-1776)aGa>aTa	p.R592I	ZNF510_ENST00000223428.4_Missense_Mutation_p.R592I			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	592					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.R592I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGTGTGAATTCTTTGATGCAC	0.418																																					p.R592I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1775T	9						.						61.0	62.0	62.0					9																	99521337		2203	4300	6503	98561158	SO:0001583	missense	22869	exon6			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1775G>T	9.37:g.99521337C>A	ENSP00000364379:p.Arg592Ile		98561158	NM_014930	Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440907	0.63067	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.24908	1.83;1.83	3.02	2.1	0.27182	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30448	0.0765	M	0.81802	2.56	0.37450	D	0.914776	B	0.28208	0.203	B	0.27887	0.084	T	0.36504	-0.9745	9	0.87932	D	0	.	9.4581	0.38767	0.2136:0.7864:0.0:0.0	.	592	Q9Y2H8	ZN510_HUMAN	I	592	ENSP00000364379:R592I;ENSP00000223428:R592I	ENSP00000223428:R592I	R	-	2	0	ZNF510	98561158	0.000000	0.05858	0.924000	0.36721	0.981000	0.71138	-0.120000	0.10660	0.807000	0.34208	-0.181000	0.13052	AGA		0.418	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930	
CCDC180	100499483	broad.mit.edu	37	9	100136874	100136874	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:100136874C>T	ENST00000357054.1	+	47	5552	c.4617C>T	c.(4615-4617)ctC>ctT	p.L1539L	CCDC180_ENST00000529487.1_Silent_p.L1594L|CCDC180_ENST00000375202.2_Silent_p.L1594L|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1539						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L1539L(1)									GAAGGAAACTCGCTGGGCTCT	0.507																																					p.L1594L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4782T	9						.						78.0	69.0	72.0					9																	100136874		2203	4300	6503	99176695	SO:0001819	synonymous_variant	57653	exon35			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4617C>T	9.37:g.100136874C>T			99176695	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																					0.507	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
CACNA1B	774	broad.mit.edu	37	9	140901264	140901264	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chr9:140901264G>A	ENST00000371372.1	+	16	2165	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	CACNA1B_ENST00000371355.4_Missense_Mutation_p.E675K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E674K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E675K|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E674K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	674					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.E674K(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)	TCACGGGATCGAATCGCAAGG	0.567																																					p.E674K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2020A	9						.						144.0	144.0	144.0					9																	140901264		2146	4247	6393	140021085	SO:0001583	missense	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.2020G>A	9.37:g.140901264G>A	ENSP00000360423:p.Glu674Lys		140021085	NM_000718	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845887	0.32606	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39	4.39	4.39	0.52855	.	0.112249	0.64402	D	0.000017	D	0.91304	0.7258	N	0.20881	0.62	0.80722	D	1	B;B	0.23990	0.095;0.095	B;B	0.24006	0.03;0.05	D	0.86202	0.1619	10	0.05959	T	0.93	.	9.9076	0.41386	0.0974:0.0:0.9026:0.0	.	674;674	B1AQK4;B1AQK6	.;.	K	674;674;674;675;675	ENSP00000360423:E674K;ENSP00000277551:E674K;ENSP00000360414:E674K;ENSP00000360408:E675K;ENSP00000360406:E675K	ENSP00000277551:E674K	E	+	1	0	CACNA1B	140021085	1.000000	0.71417	0.872000	0.34217	0.861000	0.49209	5.247000	0.65416	2.156000	0.67533	0.491000	0.48974	GAA		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CHRDL1	91851	broad.mit.edu	37	X	110035398	110035399	+	5'UTR	INS	-	-	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:110035398_110035399insT	ENST00000372045.1	-	0	124_125				CHRDL1_ENST00000394797.4_Frame_Shift_Ins_p.K4fs|CHRDL1_ENST00000434224.1_Frame_Shift_Ins_p.K4fs|CHRDL1_ENST00000444321.2_Frame_Shift_Ins_p.K4fs|CHRDL1_ENST00000482160.1_Frame_Shift_Ins_p.K4fs|CHRDL1_ENST00000218054.4_Frame_Shift_Ins_p.K4fs|CHRDL1_ENST00000372042.1_Frame_Shift_Ins_p.K4fs			Q9BU40	CRDL1_HUMAN	chordin-like 1						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.W5fs*44(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CCATTTTCCACTTTTTTCTCAT	0.386																																					p.K4fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.12_13insA	X						.																																			109922055	SO:0001623	5_prime_UTR_variant	91851	exon2			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.-8->A	X.37:g.110035404_110035404dupT			109922054	NM_001143982	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Frame_Shift_Ins	INS	ENST00000372045.1	37																																																																																					0.386	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
HMGN5	79366	broad.mit.edu	37	X	80370623	80370624	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:80370623_80370624insG	ENST00000358130.2	-	7	701_702	c.373_374insC	c.(373-375)aatfs	p.N125fs	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	125					chromatin modification (GO:0016568)|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, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.N125fs*2(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						ttcttcttcattttttacttct	0.361																																					p.N125fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.374_375insC	X						.																																			80257280	SO:0001589	frameshift_variant	79366	exon7			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.373_374insC	X.37:g.80370623_80370624insG	ENSP00000350848:p.Asn125fs		80257279	NM_030763	Q5JSL1	Frame_Shift_Ins	INS	ENST00000358130.2	37	CCDS14448.1																																																																																				0.361	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057354.1	NM_030763	
DRP2	1821	broad.mit.edu	37	X	100490892	100490892	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:100490892C>A	ENST00000395209.3	+	4	688	c.161C>A	c.(160-162)gCt>gAt	p.A54D	DRP2_ENST00000538510.1_Missense_Mutation_p.A54D|DRP2_ENST00000402866.1_Missense_Mutation_p.A54D|DRP2_ENST00000541709.1_5'UTR	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	54					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A51D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAAGATGGTGCTGGGGTTCCC	0.527																																					p.A54D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C161A	X						.						180.0	145.0	157.0					X																	100490892		2203	4300	6503	100377548	SO:0001583	missense	1821	exon4			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.161C>A	X.37:g.100490892C>A	ENSP00000378635:p.Ala54Asp		100377548	NM_001939	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376458	0.61735	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.06142	3.34;3.34;3.34	5.55	5.55	0.83447	.	0.197022	0.36200	N	0.002738	T	0.08714	0.0216	L	0.44542	1.39	0.80722	D	1	B	0.26635	0.155	B	0.26094	0.066	T	0.12502	-1.0545	10	0.46703	T	0.11	-5.5806	16.6426	0.85130	0.0:1.0:0.0:0.0	.	54	Q13474	DRP2_HUMAN	D	54	ENSP00000385038:A54D;ENSP00000378635:A54D;ENSP00000441051:A54D	ENSP00000362007:A54D	A	+	2	0	DRP2	100377548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.226000	0.42963	2.562000	0.86427	0.600000	0.82982	GCT		0.527	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
GLA	2717	broad.mit.edu	37	X	100653459	100653459	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:100653459G>A	ENST00000218516.3	-	6	919	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	GLA_ENST00000479445.1_5'Flank|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	300			L -> F (in FD). {ECO:0000269|PubMed:15712228}.		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.L300F(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATGTGTCGGAGGTCATTAGAC	0.498																																					p.L300F	Colon(193;776 2816 31189 44474)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C898T	X	GRCh37	CM051074	GLA	M		.						148.0	144.0	145.0					X																	100653459		2203	4300	6503	100540115	SO:0001583	missense	2717	exon6			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.898C>T	X.37:g.100653459G>A	ENSP00000218516:p.Leu300Phe		100540115	NM_000169	Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307916	0.81247	.	.	ENSG00000102393	ENST00000218516	D	0.99872	-7.37	5.91	4.12	0.48240	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.120830	0.64402	D	0.000020	D	0.99796	0.9913	.	.	.	0.51233	D	0.999911	D	0.89917	1.0	D	0.91635	0.999	D	0.97705	1.0187	9	0.87932	D	0	-4.0337	8.0417	0.30526	0.1363:0.0:0.7327:0.131	.	300	P06280	AGAL_HUMAN	F	300	ENSP00000218516:L300F	ENSP00000218516:L300F	L	-	1	0	GLA	100540115	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	6.787000	0.75099	1.232000	0.43678	0.600000	0.82982	CTC		0.498	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1		
GLA	2717	broad.mit.edu	37	X	100658854	100658854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:100658854C>T	ENST00000218516.3	-	2	335	c.314G>A	c.(313-315)aGa>aAa	p.R105K	GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	105					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.R105K(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGCCTGAAGTCTGCCTTCTGA	0.473																																					p.R105K	Colon(193;776 2816 31189 44474)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G314A	X						.						179.0	158.0	166.0					X																	100658854		2203	4300	6503	100545510	SO:0001583	missense	2717	exon2			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.314G>A	X.37:g.100658854C>T	ENSP00000218516:p.Arg105Lys		100545510	NM_000169	Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323751	0.24080	.	.	ENSG00000102393	ENST00000218516	D	0.99795	-6.78	5.79	0.905	0.19307	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.302981	0.39083	N	0.001480	D	0.98150	0.9389	.	.	.	0.31358	N	0.681713	B;B	0.20671	0.002;0.047	B;B	0.24155	0.016;0.051	D	0.99944	1.1442	9	0.18276	T	0.48	-2.5811	6.9957	0.24780	0.0:0.6281:0.1128:0.259	.	105;105	B4DLT5;P06280	.;AGAL_HUMAN	K	105	ENSP00000218516:R105K	ENSP00000218516:R105K	R	-	2	0	GLA	100545510	0.998000	0.40836	0.257000	0.24404	0.466000	0.32739	2.214000	0.42853	0.002000	0.14630	-0.199000	0.12753	AGA		0.473	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1		
ARMCX1	51309	broad.mit.edu	37	X	100809028	100809028	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:100809028A>C	ENST00000372829.3	+	4	1486	c.1115A>C	c.(1114-1116)gAa>gCa	p.E372A		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	372						integral component of membrane (GO:0016021)		p.E372A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GTACCATCAGAATTGATTTCC	0.328																																					p.E372A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1115C	X						.						52.0	48.0	49.0					X																	100809028		2203	4300	6503	100695684	SO:0001583	missense	51309	exon4			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.1115A>C	X.37:g.100809028A>C	ENSP00000361917:p.Glu372Ala		100695684	NM_016608	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	a	11.44	1.639489	0.29157	.	.	ENSG00000126947	ENST00000372829;ENST00000538894	T	0.27402	1.67	3.2	3.2	0.36748	Armadillo-like helical (1);Armadillo-type fold (1);	0.124211	0.56097	D	0.000028	T	0.23249	0.0562	N	0.19112	0.55	0.28630	N	0.907721	B	0.28470	0.213	B	0.40982	0.345	T	0.17745	-1.0359	10	0.33141	T	0.24	-16.6273	7.1493	0.25601	1.0:0.0:0.0:0.0	.	372	Q9P291	ARMX1_HUMAN	A	372;77	ENSP00000361917:E372A	ENSP00000361917:E372A	E	+	2	0	ARMCX1	100695684	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	1.729000	0.38115	1.496000	0.48567	0.437000	0.28790	GAA		0.328	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608	
ARMCX3	51566	broad.mit.edu	37	X	100880443	100880443	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:100880443T>C	ENST00000341189.4	+	5	1340	c.474T>C	c.(472-474)atT>atC	p.I158I	ARMCX3_ENST00000537169.1_Silent_p.I158I|ARMCX3_ENST00000471229.2_Silent_p.I158I|ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	158					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)		p.I158I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACAGAGATATTATTCGTGATC	0.393																																					p.I158I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T474C	X						.						84.0	82.0	83.0					X																	100880443		2203	4296	6499	100767099	SO:0001819	synonymous_variant	51566	exon5			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.474T>C	X.37:g.100880443T>C			100767099	NM_177948	Q53HC6|Q7LCF5|Q9NPE4	Silent	SNP	ENST00000341189.4	37	CCDS14489.1																																																																																				0.393	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607	
ARMCX2	9823	broad.mit.edu	37	X	100911416	100911416	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:100911416C>T	ENST00000328766.5	-	5	1612	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Missense_Mutation_p.D387N|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D387N	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	387						integral component of membrane (GO:0016021)		p.D387N(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTCCTGAGATCGCGGACACCC	0.507																																					p.D387N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1159A	X						.						101.0	91.0	94.0					X																	100911416		2203	4300	6503	100798072	SO:0001583	missense	9823	exon6			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1159G>A	X.37:g.100911416C>T	ENSP00000331662:p.Asp387Asn		100798072	NM_177949	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942965	0.53079	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.33865	1.39;1.39;1.39	3.77	3.77	0.43336	Armadillo-type fold (1);	0.166532	0.51477	D	0.000092	T	0.38665	0.1049	N	0.17474	0.49	0.32331	N	0.561132	D	0.71674	0.998	D	0.68039	0.955	T	0.47249	-0.9132	10	0.56958	D	0.05	-13.4223	10.0786	0.42375	0.0:1.0:0.0:0.0	.	387	Q7L311	ARMX2_HUMAN	N	387	ENSP00000331662:D387N;ENSP00000328631:D387N;ENSP00000349281:D387N	ENSP00000331662:D387N	D	-	1	0	ARMCX2	100798072	0.976000	0.34144	0.976000	0.42696	0.847000	0.48162	2.249000	0.43169	2.131000	0.65755	0.422000	0.28245	GAT		0.507	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782	
CLCN4	1183	broad.mit.edu	37	X	10176427	10176427	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:10176427G>A	ENST00000380833.4	+	9	1577	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	CLCN4_ENST00000421085.2_Missense_Mutation_p.E302K|CLCN4_ENST00000380829.1_Missense_Mutation_p.E365K	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	396					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E396K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCACCAGCGAGCTCATTTC	0.552																																					p.E396K	Melanoma(74;1050 1296 1576 30544 38374)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186A	X						.						205.0	197.0	199.0					X																	10176427		2203	4300	6503	10136427	SO:0001583	missense	1183	exon9			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1186G>A	X.37:g.10176427G>A	ENSP00000370213:p.Glu396Lys		10136427	NM_001830	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	18.63	3.665753	0.67700	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93659	-3.26;-3.26;-3.26	5.71	5.71	0.89125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	L	0.60845	1.875	0.80722	D	1	B	0.31989	0.35	B	0.34180	0.177	D	0.91547	0.5254	10	0.54805	T	0.06	-41.4449	18.9991	0.92826	0.0:0.0:1.0:0.0	.	396	P51793	CLCN4_HUMAN	K	396;365;302	ENSP00000370213:E396K;ENSP00000370209:E365K;ENSP00000405754:E302K	ENSP00000370209:E365K	E	+	1	0	CLCN4	10136427	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.450000	0.73477	2.436000	0.82500	0.592000	0.82586	GAG		0.552	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
ZMAT1	84460	broad.mit.edu	37	X	101139185	101139185	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:101139185G>A	ENST00000372782.3	-	7	1261	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V	ZMAT1_ENST00000458570.1_Missense_Mutation_p.A234V|ZMAT1_ENST00000540921.1_Missense_Mutation_p.A405V|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	405						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A234V(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TAGTCCTCTGGCTTTCTGCAC	0.418																																					p.A405V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1214T	X						.						220.0	208.0	212.0					X																	101139185		2203	4300	6503	101025841	SO:0001583	missense	84460	exon7			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1214C>T	X.37:g.101139185G>A	ENSP00000361868:p.Ala405Val		101025841	NM_001011657	Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609772	0.66558	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.42131	1.55;1.55;0.98	4.46	2.64	0.31445	.	0.660432	0.13275	N	0.400238	T	0.47414	0.1444	M	0.65498	2.005	0.38606	D	0.950775	P	0.52463	0.953	P	0.50109	0.631	T	0.50725	-0.8794	10	0.87932	D	0	0.3851	6.3808	0.21533	0.1025:0.0:0.715:0.1824	.	405	Q5H9K5	ZMAT1_HUMAN	V	405;405;234	ENSP00000361868:A405V;ENSP00000437529:A405V;ENSP00000413044:A234V	ENSP00000361868:A405V	A	-	2	0	ZMAT1	101025841	1.000000	0.71417	0.679000	0.29978	0.948000	0.59901	3.981000	0.56902	0.576000	0.29452	0.513000	0.50165	GCC		0.418	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1		
GPRASP1	9737	broad.mit.edu	37	X	101911587	101911587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:101911587G>T	ENST00000361600.5	+	5	3547	c.2746G>T	c.(2746-2748)Gaa>Taa	p.E916*	GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E916*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E916*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.E916*|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	916	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.E916*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGATGGAAAAGAAGTCAGTGA	0.463																																					p.E916X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2746T	X						.						99.0	97.0	98.0					X																	101911587		2203	4300	6503	101798243	SO:0001587	stop_gained	9737	exon3			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2746G>T	X.37:g.101911587G>T	ENSP00000355146:p.Glu916*		101798243	NM_001099411	O43168|Q96LA1	Nonsense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	45	11.485668	0.99567	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.82	0.993	0.19825	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-1.1879	6.4688	0.21997	0.2627:0.0:0.7373:0.0	.	.	.	.	X	916	.	ENSP00000355146:E916X	E	+	1	0	GPRASP1	101798243	0.008000	0.16893	0.195000	0.23364	0.211000	0.24417	0.972000	0.29409	0.134000	0.18681	0.292000	0.19580	GAA		0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710	
GPRASP1	9737	broad.mit.edu	37	X	101912260	101912260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:101912260C>T	ENST00000361600.5	+	5	4220	c.3419C>T	c.(3418-3420)tCa>tTa	p.S1140L	GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1140L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1140L|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S1140L|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1140	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S1140L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGAGAGTTCATCCTGTAAC	0.413																																					p.S1140L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3419T	X						.						105.0	95.0	98.0					X																	101912260		2203	4300	6503	101798916	SO:0001583	missense	9737	exon3			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3419C>T	X.37:g.101912260C>T	ENSP00000355146:p.Ser1140Leu		101798916	NM_001099411	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	c	0.020	-1.441651	0.01098	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	2.51	1.64	0.23874	Armadillo-type fold (1);	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.19148	0.024	T	0.41305	-0.9516	9	0.42905	T	0.14	-0.3307	6.6995	0.23217	0.0:0.291:0.709:0.0	.	1140	Q5JY77	GASP1_HUMAN	L	1140	ENSP00000393691:S1140L;ENSP00000409420:S1140L;ENSP00000355146:S1140L;ENSP00000445683:S1140L	ENSP00000355146:S1140L	S	+	2	0	GPRASP1	101798916	0.999000	0.42202	0.216000	0.23742	0.023000	0.10783	2.164000	0.42387	0.498000	0.27948	-0.777000	0.03380	TCA		0.413	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710	
GPRASP1	9737	broad.mit.edu	37	X	101912590	101912590	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:101912590A>G	ENST00000361600.5	+	5	4550	c.3749A>G	c.(3748-3750)gAt>gGt	p.D1250G	GPRASP1_ENST00000444152.1_Missense_Mutation_p.D1250G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D1250G|GPRASP1_ENST00000537097.1_Missense_Mutation_p.D1250G|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1250	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.D1250G(1)|p.S1248_D1250delSVD(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATAGCGTGGATTCCCCGGAA	0.418																																					p.D1250G												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|prostate(1)	c.A3749G	X						.						102.0	88.0	92.0					X																	101912590		2203	4300	6503	101799246	SO:0001583	missense	9737	exon3			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3749A>G	X.37:g.101912590A>G	ENSP00000355146:p.Asp1250Gly		101799246	NM_001099411	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	2.353	-0.348462	0.05208	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	2.58	2.58	0.30949	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.20577	0.0495	L	0.33485	1.01	0.30914	N	0.728721	P	0.36199	0.543	B	0.34991	0.193	T	0.14643	-1.0465	9	0.41790	T	0.15	-9.0177	6.2679	0.20939	1.0:0.0:0.0:0.0	.	1250	Q5JY77	GASP1_HUMAN	G	1250	ENSP00000393691:D1250G;ENSP00000409420:D1250G;ENSP00000355146:D1250G;ENSP00000445683:D1250G	ENSP00000355146:D1250G	D	+	2	0	GPRASP1	101799246	0.970000	0.33590	0.806000	0.32338	0.210000	0.24377	1.348000	0.33987	1.274000	0.44362	0.376000	0.23039	GAT		0.418	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710	
BEX1	55859	broad.mit.edu	37	X	102318039	102318039	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:102318039A>G	ENST00000372728.3	-	3	403	c.164T>C	c.(163-165)gTt>gCt	p.V55A		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	55					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)	p.V55A(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						GGGCTGCCTAACGCGGAACCG	0.507																																					p.V55A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T164C	X						.						205.0	170.0	181.0					X																	102318039		2203	4300	6503	102204695	SO:0001583	missense	55859	exon3				CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.164T>C	X.37:g.102318039A>G	ENSP00000361813:p.Val55Ala		102204695	NM_018476	A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	A	6.215	0.407752	0.11754	.	.	ENSG00000133169	ENST00000372728	T	0.10573	2.86	3.25	-0.454	0.12197	.	0.536733	0.15682	N	0.249899	T	0.09905	0.0243	M	0.68952	2.095	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.39078	-0.9631	10	0.17832	T	0.49	.	5.6368	0.17542	0.5609:0.0:0.4391:0.0	.	55	Q9HBH7	BEX1_HUMAN	A	55	ENSP00000361813:V55A	ENSP00000361813:V55A	V	-	2	0	BEX1	102204695	0.000000	0.05858	0.075000	0.20258	0.988000	0.76386	-0.239000	0.08965	-0.197000	0.10350	-0.314000	0.08810	GTT		0.507	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476	
WBP5	51186	broad.mit.edu	37	X	102612899	102612899	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:102612899G>A	ENST00000372661.3	+	3	598	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	WBP5_ENST00000372656.3_Missense_Mutation_p.R96Q	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WBP5_HUMAN	WW domain binding protein 5	96								p.R96Q(3)		breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AAGGTTAATCGAAaccatcct	0.323																																					p.R96Q												.	.	3	Substitution - Missense(3)	breast(2)|large_intestine(1)	c.G287A	X						.						84.0	81.0	82.0					X																	102612899		2203	4300	6503	102499555	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.287G>A	X.37:g.102612899G>A	ENSP00000361745:p.Arg96Gln		102499555	NM_001006612	B2R5H6	Missense_Mutation	SNP	ENST00000372661.3	37	CCDS14507.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470290	0.43942	.	.	ENSG00000185222	ENST00000372661;ENST00000372656	T;T	0.10477	2.87;2.87	4.04	3.17	0.36434	.	0.000000	0.32301	N	0.006282	T	0.10208	0.0250	L	0.58810	1.83	0.27008	N	0.964748	B	0.28178	0.202	B	0.15484	0.013	T	0.17167	-1.0378	10	0.72032	D	0.01	-16.6747	6.6486	0.22949	0.1306:0.0:0.8694:0.0	.	96	Q9UHQ7	WPB5_HUMAN	Q	96	ENSP00000361745:R96Q;ENSP00000361740:R96Q	ENSP00000361740:R96Q	R	+	2	0	WBP5	102499555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.191000	0.42640	1.055000	0.40461	0.594000	0.82650	CGA		0.323	WBP5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057706.1	NM_016303	
TEX13A	56157	broad.mit.edu	37	X	104464182	104464182	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:104464182C>T	ENST00000413579.1	-	5	805	c.694G>A	c.(694-696)Gct>Act	p.A232T	TEX13A_ENST00000372575.1_Silent_p.G232G|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Silent_p.G232G|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	232							zinc ion binding (GO:0008270)	p.G232G(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATGGAGGCAGCCCTGGCCTCC	0.622																																					p.G232G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G696A	X						.						24.0	26.0	25.0					X																	104464182		1976	4131	6107	104350838	SO:0001583	missense	56157	exon3			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.694G>A	X.37:g.104464182C>T	ENSP00000399753:p.Ala232Thr		104350838	NM_031274	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	10.56	1.383110	0.25031	.	.	ENSG00000133149	ENST00000413579	.	.	.	1.93	-0.0218	0.13950	.	1.930770	0.03298	N	0.188572	T	0.18964	0.0455	N	0.08118	0	0.09310	N	1	B	0.24576	0.106	B	0.12156	0.007	T	0.17410	-1.0370	9	0.51188	T	0.08	.	3.9169	0.09227	0.0:0.5212:0.0:0.4788	.	232	Q9BXU3	TX13A_HUMAN	T	232	.	ENSP00000399753:A232T	A	-	1	0	TEX13A	104350838	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.793000	0.26944	-0.113000	0.11958	0.422000	0.28245	GCT		0.622	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274	
IL1RAPL2	26280	broad.mit.edu	37	X	104999307	104999307	+	Silent	SNP	C	C	A	rs143994271		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:104999307C>A	ENST00000372582.1	+	10	2085	c.1329C>A	c.(1327-1329)ctC>ctA	p.L443L	IL1RAPL2_ENST00000344799.4_Silent_p.L443L|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	443	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.L443L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATATAAACTCTTCATCCCAG	0.378																																					p.L443L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1329A	X						.	C		1,3834		0,1,1631,571	109.0	102.0	104.0		1329	0.6	1.0	X	dbSNP_134	104	0,6726		0,0,2427,1872	no	coding-synonymous	IL1RAPL2	NM_017416.1		0,1,4058,2443	AA,AC,CC,C		0.0,0.0261,0.0095		443/687	104999307	1,10560	2203	4299	6502	104885963	SO:0001819	synonymous_variant	26280	exon10			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1329C>A	X.37:g.104999307C>A			104885963	NM_017416	Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	CCDS14517.1																																																																																				0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
NRK	203447	broad.mit.edu	37	X	105139512	105139512	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:105139512A>C	ENST00000243300.9	+	7	879	c.576A>C	c.(574-576)aaA>aaC	p.K192N	NRK_ENST00000428173.2_Missense_Mutation_p.K192N	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.K192N(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTGAAGTAAAACTGGGTAAGT	0.378										HNSCC(51;0.14)																											p.K192N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A576C	X						.						70.0	67.0	68.0					X																	105139512		1881	4106	5987	105026168	SO:0001583	missense	203447	exon7			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.576A>C	X.37:g.105139512A>C	ENSP00000434830:p.Lys192Asn		105026168	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	A	19.20	3.781088	0.70222	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.39406	1.08;1.08	5.69	-1.06	0.10002	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	0.48767	D	0.000168	T	0.71013	0.3290	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73254	-0.4041	10	0.87932	D	0	.	10.5631	0.45156	0.4905:0.0:0.5095:0.0	.	192	Q7Z2Y5	NRK_HUMAN	N	192	ENSP00000434830:K192N;ENSP00000438378:K192N	ENSP00000434830:K192N	K	+	3	2	NRK	105026168	0.989000	0.36119	0.799000	0.32177	0.988000	0.76386	0.489000	0.22387	-0.607000	0.05738	-0.360000	0.07572	AAA		0.378	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
MUM1L1	139221	broad.mit.edu	37	X	105450024	105450024	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:105450024C>T	ENST00000357175.2	+	4	1248	c.599C>T	c.(598-600)tCg>tTg	p.S200L	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S200L|MUM1L1_ENST00000337685.2_Missense_Mutation_p.S200L	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	200						extracellular vesicular exosome (GO:0070062)		p.S200L(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTCACTTTCGGAAGATAAT	0.383																																					p.S200L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C599T	X						.						69.0	59.0	62.0					X																	105450024		1882	4090	5972	105336680	SO:0001583	missense	139221	exon5			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.599C>T	X.37:g.105450024C>T	ENSP00000349699:p.Ser200Leu		105336680	NM_152423	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630329	0.14257	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.25749	1.78;1.78;1.78	4.96	3.04	0.35103	.	1.157270	0.06693	N	0.770034	T	0.22898	0.0553	L	0.48877	1.53	0.09310	N	1	B	0.20887	0.049	B	0.14578	0.011	T	0.25950	-1.0117	10	0.54805	T	0.06	-30.1472	4.5841	0.12273	0.2166:0.6691:0.0:0.1143	.	200	Q5H9M0	MUML1_HUMAN	L	200	ENSP00000349699:S200L;ENSP00000338641:S200L;ENSP00000361632:S200L	ENSP00000338641:S200L	S	+	2	0	MUM1L1	105336680	0.001000	0.12720	0.222000	0.23844	0.011000	0.07611	0.115000	0.15540	1.158000	0.42547	0.600000	0.82982	TCG		0.383	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423	
CXorf57	55086	broad.mit.edu	37	X	105855704	105855704	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:105855704T>C	ENST00000372548.4	+	1	503	c.394T>C	c.(394-396)Tcc>Ccc	p.S132P	CXorf57_ENST00000372544.2_Missense_Mutation_p.S132P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	132							poly(A) RNA binding (GO:0044822)	p.S132P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AATGAGAATTTCCAGGGTCTC	0.438																																					p.S132P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T394C	X						.						111.0	118.0	116.0					X																	105855704		2203	4300	6503	105742360	SO:0001583	missense	55086	exon1			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.394T>C	X.37:g.105855704T>C	ENSP00000361628:p.Ser132Pro		105742360	NM_018015	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618488	0.28801	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80480	-1.38;-1.38	4.0	2.79	0.32731	Nucleic acid-binding, OB-fold-like (1);	0.227909	0.37857	N	0.001903	T	0.81413	0.4817	L	0.53249	1.67	0.25262	N	0.989588	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.58454	0.839;0.779;0.779	T	0.69946	-0.5007	10	0.35671	T	0.21	-0.5187	6.2197	0.20675	0.4133:0.0:0.0:0.5867	.	132;132;132	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	P	132	ENSP00000361623:S132P;ENSP00000361628:S132P	ENSP00000361623:S132P	S	+	1	0	CXorf57	105742360	0.782000	0.28689	0.969000	0.41365	0.730000	0.41778	1.135000	0.31454	0.506000	0.28125	0.486000	0.48141	TCC		0.438	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
CXorf57	55086	broad.mit.edu	37	X	105855826	105855826	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:105855826G>A	ENST00000372548.4	+	1	625	c.516G>A	c.(514-516)gcG>gcA	p.A172A	CXorf57_ENST00000372544.2_Silent_p.A172A	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	172							poly(A) RNA binding (GO:0044822)	p.A172A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAAATAGAGCGCACCAGGAGA	0.473																																					p.A172A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G516A	X						.						88.0	97.0	94.0					X																	105855826		2203	4300	6503	105742482	SO:0001819	synonymous_variant	55086	exon1			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.516G>A	X.37:g.105855826G>A			105742482	NM_018015	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	CCDS14519.1																																																																																				0.473	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
CXorf57	55086	broad.mit.edu	37	X	105882829	105882829	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:105882829G>A	ENST00000372548.4	+	9	1755	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	549							poly(A) RNA binding (GO:0044822)	p.R549H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAACAAAAGCGCATTGCAATT	0.433																																					p.R549H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1646A	X						.						136.0	123.0	128.0					X																	105882829		2203	4300	6503	105769485	SO:0001583	missense	55086	exon9			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1646G>A	X.37:g.105882829G>A	ENSP00000361628:p.Arg549His		105769485	NM_018015	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104786	0.77096	.	.	ENSG00000147231	ENST00000372548	T	0.69040	-0.37	5.19	4.3	0.51218	.	0.258138	0.34291	N	0.004083	T	0.67316	0.2880	M	0.65498	2.005	0.80722	D	1	D	0.57257	0.979	P	0.46049	0.502	T	0.71616	-0.4539	10	0.87932	D	0	-1.5603	11.5104	0.50490	0.0969:0.0:0.9031:0.0	.	549	Q6NSI4	CX057_HUMAN	H	549	ENSP00000361628:R549H	ENSP00000361628:R549H	R	+	2	0	CXorf57	105769485	0.595000	0.26857	0.968000	0.41197	0.998000	0.95712	2.146000	0.42216	1.183000	0.42943	0.538000	0.68166	CGC		0.433	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
TBC1D8B	54885	broad.mit.edu	37	X	106109245	106109245	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:106109245G>T	ENST00000357242.5	+	16	2818	c.2644G>T	c.(2644-2646)Gaa>Taa	p.E882*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.E876*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	882	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.E882*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACTTCAAAGAATTCTCCTC	0.343																																					p.E882X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2644T	X						.						54.0	51.0	52.0					X																	106109245		2203	4299	6502	105995901	SO:0001587	stop_gained	54885	exon16			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2644G>T	X.37:g.106109245G>T	ENSP00000349781:p.Glu882*		105995901	NM_017752	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.791685|9.791685	0.99264|0.99264	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972|ENST00000431860	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.112351|.	0.64402|.	D|.	0.000015|.	.|T	.|0.65626	.|0.2709	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70270	.|-0.4918	.|3	0.54805|.	T|.	0.06|.	-9.0014|-9.0014	13.9649|13.9649	0.64202|0.64202	0.0:0.1487:0.8513:0.0|0.0:0.1487:0.8513:0.0	.|.	.|.	.|.	.|.	X|I	882;876;144|144	.|.	ENSP00000276175:E876X|.	E|R	+|+	1|2	0|0	TBC1D8B|TBC1D8B	105995901|105995901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.255000|6.255000	0.72466|0.72466	2.469000|2.469000	0.83416|0.83416	0.594000|0.594000	0.82650|0.82650	GAA|AGA		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
TSC22D3	1831	broad.mit.edu	37	X	106959140	106959140	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:106959140C>T	ENST00000372397.2	-	2	486	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TSC22D3_ENST00000372384.2_Missense_Mutation_p.E121K|TSC22D3_ENST00000372390.4_5'UTR|TSC22D3_ENST00000514426.1_Missense_Mutation_p.E53K|TSC22D3_ENST00000372383.4_Missense_Mutation_p.E121K|TSC22D3_ENST00000506081.1_Missense_Mutation_p.E121K|TSC22D3_ENST00000372382.4_Missense_Mutation_p.E31K|TSC22D3_ENST00000315660.4_Missense_Mutation_p.E121K	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	55	AP1-binding. {ECO:0000250}.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E121K(1)		breast(1)|large_intestine(2)|lung(3)	6						ATGGCCTGTTCGATCTTGTTG	0.522																																					p.E55K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G163A	X						.						206.0	124.0	152.0					X																	106959140		2203	4300	6503	106845796	SO:0001583	missense	1831	exon2			Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.163G>A	X.37:g.106959140C>T	ENSP00000361474:p.Glu55Lys		106845796	NM_004089	Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	ENST00000372397.2	37	CCDS14531.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466041	0.96257	.	.	ENSG00000157514	ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000503515;ENST00000514897;ENST00000480691	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.97	T	0.77395	-0.2604	9	0.87932	D	0	.	14.5028	0.67734	0.0:1.0:0.0:0.0	.	121;55	Q99576-3;Q99576	.;T22D3_HUMAN	K	55;121;121;121;100;31;121;53;55;121;121	.	ENSP00000314655:E121K	E	-	1	0	TSC22D3	106845796	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.682000	0.68182	2.221000	0.72209	0.600000	0.82982	GAA		0.522	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	NM_198057	
COL4A6	1288	broad.mit.edu	37	X	107402894	107402894	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:107402894C>T	ENST00000372216.4	-	44	4713	c.4613G>A	c.(4612-4614)cGc>cAc	p.R1538H	COL4A6_ENST00000418180.1_Missense_Mutation_p.R72H|COL4A6_ENST00000545689.1_Missense_Mutation_p.R1513H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1480H|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1537H|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1538H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1538	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				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.R1537H(1)		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						TTTATCATTGCGCCTGGCATA	0.562									Alport syndrome with Diffuse Leiomyomatosis																												p.R1537H	Melanoma(87;1895 1945 2589 7165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4610A	X						.						143.0	130.0	134.0					X																	107402894		2203	4300	6503	107289550	SO:0001583	missense	1288	exon44	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.4613G>A	X.37:g.107402894C>T	ENSP00000361290:p.Arg1538His		107289550	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998089	0.74818	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.82	4.82	0.62117	C-type lectin fold (1);	0.000000	0.39210	N	0.001437	D	0.94125	0.8116	H	0.96015	3.755	0.54753	D	0.999987	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;1.0;1.0;1.0	D	0.96078	0.9051	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	1513;72;1480;1538;1537	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	H	72;1538;1537;1538;1525;1513;1480	ENSP00000406002:R72H;ENSP00000361290:R1538H;ENSP00000334733:R1537H;ENSP00000378340:R1538H;ENSP00000443707:R1513H;ENSP00000445236:R1480H	ENSP00000334733:R1537H	R	-	2	0	COL4A6	107289550	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	7.740000	0.84986	2.326000	0.78906	0.529000	0.55759	CGC		0.562	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
COL4A6	1288	broad.mit.edu	37	X	107419005	107419005	+	Silent	SNP	G	G	A	rs187774618		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:107419005G>A	ENST00000372216.4	-	29	2812	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	COL4A6_ENST00000545689.1_Silent_p.F903F|COL4A6_ENST00000538570.1_Silent_p.F903F|COL4A6_ENST00000334504.7_Silent_p.F903F|COL4A6_ENST00000394872.2_Silent_p.F904F	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	904	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.F903F(1)		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						GAAAACCTACGAATCCAACAG	0.438									Alport syndrome with Diffuse Leiomyomatosis																												p.F903F	Melanoma(87;1895 1945 2589 7165)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2709T	X						.						58.0	53.0	55.0					X																	107419005		2203	4299	6502	107305661	SO:0001819	synonymous_variant	1288	exon29	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.2712C>T	X.37:g.107419005G>A			107305661	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.438	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
COL4A6	1288	broad.mit.edu	37	X	107422582	107422582	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:107422582G>A	ENST00000372216.4	-	26	2321	c.2221C>T	c.(2221-2223)Cca>Tca	p.P741S	COL4A6_ENST00000545689.1_Missense_Mutation_p.P740S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P740S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P740S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P741S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	741	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.P740S(1)		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						GGTAAGCCTGGACTGCCAATC	0.542									Alport syndrome with Diffuse Leiomyomatosis																												p.P740S	Melanoma(87;1895 1945 2589 7165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2218T	X						.						70.0	57.0	61.0					X																	107422582		2203	4300	6503	107309238	SO:0001583	missense	1288	exon26	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.2221C>T	X.37:g.107422582G>A	ENSP00000361290:p.Pro741Ser		107309238	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560901	0.27827	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	4.59	2.63	0.31362	.	0.000000	0.40818	N	0.001002	D	0.97353	0.9134	M	0.76938	2.355	0.30733	N	0.746987	P;D;P;P	0.76494	0.815;0.999;0.846;0.815	P;D;P;P	0.79108	0.674;0.992;0.781;0.674	D	0.93537	0.6874	10	0.21540	T	0.41	.	5.9101	0.19023	0.1934:0.0:0.6484:0.1582	.	740;740;741;740	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	741;740;741;740;740;740	ENSP00000361290:P741S;ENSP00000334733:P740S;ENSP00000378340:P741S;ENSP00000443707:P740S;ENSP00000445236:P740S	ENSP00000334733:P740S	P	-	1	0	COL4A6	107309238	0.981000	0.34729	0.980000	0.43619	0.476000	0.33039	1.805000	0.38883	1.024000	0.39682	0.523000	0.50628	CCA		0.542	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
COL4A6	1288	broad.mit.edu	37	X	107431200	107431200	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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_ENST00000538570.1_Missense_Mutation_p.L549I|COL4A6_ENST00000334504.7_Missense_Mutation_p.L549I|COL4A6_ENST00000394872.2_Missense_Mutation_p.L550I	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		
COL4A5	1287	broad.mit.edu	37	X	107869542	107869542	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:107869542T>G	ENST00000361603.2	+	36	3453	c.3209T>G	c.(3208-3210)aTt>aGt	p.I1070S	COL4A5_ENST00000328300.6_Missense_Mutation_p.I1070S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1070	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.I1070S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GATCCTGGTATTTCAAGCATT	0.468									Alport syndrome with Diffuse Leiomyomatosis																												p.I1070S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3209G	X						.						129.0	112.0	117.0					X																	107869542		2203	4300	6503	107756198	SO:0001583	missense	1287	exon36	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3209T>G	X.37:g.107869542T>G	ENSP00000354505:p.Ile1070Ser		107756198	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.924|5.924	0.354585|0.354585	0.11239|0.11239	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000505728|ENST00000328300;ENST00000361603;ENST00000508186	.|D;D	.|0.92911	.|-3.13;-3.13	5.76|5.76	3.37|3.37	0.38596|0.38596	.|.	.|0.763984	.|0.12995	.|N	.|0.422132	D|D	0.86694|0.86694	0.5994|0.5994	L|L	0.39326|0.39326	1.205|1.205	0.21445|0.21445	N|N	0.999685|0.999685	.|B;B;B	.|0.09022	.|0.001;0.002;0.001	.|B;B;B	.|0.11329	.|0.003;0.006;0.003	T|T	0.70684|0.70684	-0.4804|-0.4804	5|10	.|0.19590	.|T	.|0.45	.|.	9.1038|9.1038	0.36685|0.36685	0.0:0.1497:0.0:0.8503|0.0:0.1497:0.0:0.8503	.|.	.|1070;678;1070	.|E7EVY4;Q49AM6;P29400	.|.;.;CO4A5_HUMAN	V|S	148|1070	.|ENSP00000331902:I1070S;ENSP00000354505:I1070S	.|ENSP00000331902:I1070S	F|I	+|+	1|2	0|0	COL4A5|COL4A5	107756198|107756198	0.270000|0.270000	0.24152|0.24152	0.886000|0.886000	0.34754|0.34754	0.719000|0.719000	0.41307|0.41307	0.524000|0.524000	0.22940|0.22940	0.300000|0.300000	0.22699|0.22699	0.486000|0.486000	0.48141|0.48141	TTT|ATT		0.468	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
COL4A5	1287	broad.mit.edu	37	X	107911689	107911689	+	Nonsense_Mutation	SNP	G	G	T	rs104886393		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:107911689G>T	ENST00000361603.2	+	41	3989	c.3745G>T	c.(3745-3747)Gga>Tga	p.G1249*	COL4A5_ENST00000328300.6_Nonsense_Mutation_p.G1249*	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1249	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G1249*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCTCTGGAAGGACCTAAAGG	0.572									Alport syndrome with Diffuse Leiomyomatosis																												p.G1249X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3745T	X						.						36.0	33.0	34.0					X																	107911689		2203	4300	6503	107798345	SO:0001587	stop_gained	1287	exon41	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3745G>T	X.37:g.107911689G>T	ENSP00000354505:p.Gly1249*		107798345	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Nonsense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	45	12.026384	0.99628	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0938	0.93240	0.0:0.0:1.0:0.0	.	.	.	.	X	1249	.	ENSP00000331902:G1249X	G	+	1	0	COL4A5	107798345	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.334000	0.96470	2.459000	0.83118	0.594000	0.82650	GGA		0.572	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
GUCY2F	2986	broad.mit.edu	37	X	108641860	108641860	+	Silent	SNP	T	T	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:108641860T>A	ENST00000218006.2	-	11	2484	c.2193A>T	c.(2191-2193)ggA>ggT	p.G731G		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	731	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.G731G(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TATAGACATCTCCTGCAAAAG	0.502																																					p.G731G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2193T	X						.						114.0	91.0	99.0					X																	108641860		2203	4300	6503	108528516	SO:0001819	synonymous_variant	2986	exon11			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.2193A>T	X.37:g.108641860T>A			108528516	NM_001522	Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																				0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
GUCY2F	2986	broad.mit.edu	37	X	108697038	108697038	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:108697038T>G	ENST00000218006.2	-	4	1374	c.1083A>C	c.(1081-1083)caA>caC	p.Q361H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	361					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.Q361H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TATTCATGGCTTGTGCGATAA	0.413																																					p.Q361H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1083C	X						.						38.0	33.0	34.0					X																	108697038		2203	4300	6503	108583694	SO:0001583	missense	2986	exon4			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.1083A>C	X.37:g.108697038T>G	ENSP00000218006:p.Gln361His		108583694	NM_001522	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	T	2.025	-0.423754	0.04734	.	.	ENSG00000101890	ENST00000218006	T	0.81415	-1.49	4.38	3.21	0.36854	Extracellular ligand-binding receptor (1);	0.390240	0.28349	N	0.015663	T	0.45716	0.1356	N	0.00960	-1.095	0.29794	N	0.832955	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.13470	T	0.59	.	3.1287	0.06415	0.2105:0.1126:0.0:0.6769	.	361	P51841	GUC2F_HUMAN	H	361	ENSP00000218006:Q361H	ENSP00000218006:Q361H	Q	-	3	2	GUCY2F	108583694	0.989000	0.36119	0.998000	0.56505	0.978000	0.69477	0.221000	0.17680	0.799000	0.34018	-0.314000	0.08810	CAA		0.413	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
ACSL4	2182	broad.mit.edu	37	X	108926626	108926626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:108926626C>T	ENST00000469796.2	-	3	486	c.90G>A	c.(88-90)tgG>tgA	p.W30*	ACSL4_ENST00000348502.6_Intron|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.W30*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	30					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.W30*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TAAGAAAATACCATGGAATAA	0.388																																					p.W30X	Pancreas(188;358 2127 38547 41466 45492)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G90A	X						.						131.0	128.0	129.0					X																	108926626		2203	4299	6502	108813282	SO:0001587	stop_gained	2182	exon4			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.90G>A	X.37:g.108926626C>T	ENSP00000419171:p.Trp30*		108813282	NM_022977	D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	39	7.457903	0.98296	.	.	ENSG00000068366	ENST00000469796;ENST00000340800;ENST00000502391;ENST00000508092;ENST00000504980;ENST00000469857	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-5.8678	18.0805	0.89440	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000339787:W30X	W	-	3	0	ACSL4	108813282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.205000	0.71048	0.506000	0.49869	TGG		0.388	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458	
TMEM164	84187	broad.mit.edu	37	X	109416479	109416479	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:109416479G>A	ENST00000372073.1	+	7	1030	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K			Q5U3C3	TM164_HUMAN	transmembrane protein 164	232						integral component of membrane (GO:0016021)		p.E193K(1)|p.E232K(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCAGGTCACCGAAGTGAATTT	0.547																																					p.E232K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G694A	X						.						116.0	88.0	97.0					X																	109416479		2203	4300	6503	109303135	SO:0001583	missense	84187	exon7			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.694G>A	X.37:g.109416479G>A	ENSP00000361143:p.Glu232Lys		109303135	NM_032227	B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	g	15.35	2.807907	0.50421	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.52	5.52	0.82312	.	0.045262	0.85682	N	0.000000	T	0.37517	0.1006	L	0.49350	1.555	0.80722	D	1	P;P	0.47545	0.897;0.584	B;B	0.35114	0.196;0.064	T	0.33292	-0.9874	10	0.41790	T	0.15	-3.7445	18.5819	0.91174	0.0:0.0:1.0:0.0	.	193;232	Q9H617;Q5U3C3	.;TM164_HUMAN	K	83;232;232;193;193	ENSP00000384075:E83K;ENSP00000361143:E232K;ENSP00000361138:E232K;ENSP00000288381:E193K	ENSP00000288381:E193K	E	+	1	0	TMEM164	109303135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.331000	0.79229	0.525000	0.51046	GAA		0.547	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227	
DCX	1641	broad.mit.edu	37	X	110644303	110644303	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:110644303A>C	ENST00000338081.3	-	3	1034	c.863T>G	c.(862-864)tTt>tGt	p.F288C	DCX_ENST00000356915.2_Missense_Mutation_p.F207C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.F207C|DCX_ENST00000356220.3_Missense_Mutation_p.F207C|DCX_ENST00000488120.1_Missense_Mutation_p.F207C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	288	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.F288C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GACTTGCTCAAAAGAGTGGGC	0.498																																					p.F207C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T620G	X						.						121.0	112.0	115.0					X																	110644303		2203	4300	6503	110530959	SO:0001583	missense	1641	exon3			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.863T>G	X.37:g.110644303A>C	ENSP00000337697:p.Phe288Cys		110530959	NM_178153	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.021349|4.021349	0.75275|0.75275	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120|ENST00000358070	D;D;D;D;D|.	0.95690|.	-3.78;-3.78;-3.78;-3.78;-3.78|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Doublecortin domain (5);|.	0.055565|.	0.64402|.	D|.	0.000001|.	T|T	0.78509|0.78509	0.4294|0.4294	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.994|.	T|T	0.81856|0.81856	-0.0740|-0.0740	10|5	0.87932|.	D|.	0|.	.|.	13.9428|13.9428	0.64066|0.64066	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	276;288|.	B4DM53;O43602|.	.;DCX_HUMAN|.	C|V	207;207;288;207;207|280	ENSP00000349385:F207C;ENSP00000361061:F207C;ENSP00000337697:F288C;ENSP00000348553:F207C;ENSP00000419861:F207C|.	ENSP00000337697:F288C|.	F|L	-|-	2|1	0|2	DCX|DCX	110530959|110530959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	9.315000|9.315000	0.96313|0.96313	1.826000|1.826000	0.53198|0.53198	0.486000|0.486000	0.48141|0.48141	TTT|TTG		0.498	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
ZCCHC16	340595	broad.mit.edu	37	X	111698683	111698683	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:111698683G>T	ENST00000340433.2	+	1	957	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	243							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A243S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAACACCAAGCCCTCTTTAG	0.557																																					p.A243S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G727T	X						.						168.0	162.0	164.0					X																	111698683		2203	4300	6503	111585339	SO:0001583	missense	340595	exon3			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.727G>T	X.37:g.111698683G>T	ENSP00000340590:p.Ala243Ser		111585339	NM_001004308	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.953258	0.00470	.	.	ENSG00000187823	ENST00000340433	T	0.32023	1.47	3.83	-2.94	0.05581	.	1.258290	0.05959	N	0.640302	T	0.12433	0.0302	N	0.13043	0.29	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.22034	-1.0228	10	0.07990	T	0.79	2.3729	1.1304	0.01744	0.1345:0.2545:0.198:0.4131	.	243	Q6ZR62	ZCH16_HUMAN	S	243	ENSP00000340590:A243S	ENSP00000340590:A243S	A	+	1	0	ZCCHC16	111585339	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	-0.077000	0.11394	-0.767000	0.04633	0.529000	0.55759	GCC		0.557	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308	
LRCH2	57631	broad.mit.edu	37	X	114400448	114400448	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:114400448C>A	ENST00000317135.8	-	8	1184	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I	LRCH2_ENST00000538422.1_Missense_Mutation_p.R385I	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	385								p.R385I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ACTGTCATTTCTTGATGTCTG	0.358																																					p.R385I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1154T	X						.						106.0	81.0	89.0					X																	114400448		1861	4046	5907	114306704	SO:0001583	missense	57631	exon8			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1154G>T	X.37:g.114400448C>A	ENSP00000325091:p.Arg385Ile		114306704	NM_020871	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378664	0.42207	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.80909	-1.43;5.5	5.71	4.85	0.62838	.	0.054527	0.64402	D	0.000001	T	0.79458	0.4449	M	0.64997	1.995	0.80722	D	1	P;B	0.44578	0.838;0.08	P;B	0.44990	0.466;0.067	T	0.79351	-0.1839	10	0.59425	D	0.04	-11.392	9.052	0.36383	0.0:0.8275:0.0:0.1725	.	385;385	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	I	385	ENSP00000325091:R385I;ENSP00000439366:R385I	ENSP00000325091:R385I	R	-	2	0	LRCH2	114306704	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.978000	0.40598	1.166000	0.42689	0.538000	0.68166	AGA		0.358	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871	
LRCH2	57631	broad.mit.edu	37	X	114414219	114414219	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:114414219A>C	ENST00000317135.8	-	4	747	c.717T>G	c.(715-717)gtT>gtG	p.V239V	LRCH2_ENST00000538422.1_Silent_p.V239V	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	239								p.V239V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CATCTGGCAAAACATGAAGAT	0.303																																					p.V239V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T717G	X						.						49.0	44.0	46.0					X																	114414219		1799	4044	5843	114320475	SO:0001819	synonymous_variant	57631	exon4			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.717T>G	X.37:g.114414219A>C			114320475	NM_020871	F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	ENST00000317135.8	37	CCDS48155.1																																																																																				0.303	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871	
PLS3	5358	broad.mit.edu	37	X	114879419	114879419	+	Splice_Site	SNP	C	C	T	rs370999829		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:114879419C>T	ENST00000420625.2	+	11	1396	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	PLS3_ENST00000539310.1_Splice_Site_p.A376V|PLS3_ENST00000537301.1_Splice_Site_p.A408V|PLS3_ENST00000355899.3_Splice_Site_p.A421V|PLS3_ENST00000289290.3_Splice_Site_p.A385V|PLS3_ENST00000543070.1_Splice_Site_p.A15V	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	421	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.A421V(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CATCTCTATGCGTAAGCCTTC	0.353													C|||	1	0.000264901	0.0	0.0	3775	,	,		11849	0.001		0.0	False		,,,				2504	0.0				p.A421V	Colon(160;1047 1864 8490 12969 29601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1262T	X						.	C	VAL/ALA,VAL/ALA,VAL/ALA	0,3835		0,0,1632,571	172.0	147.0	155.0		1262,1181,1262	4.4	1.0	X		155	1,6727		0,1,2427,1872	no	missense-near-splice,missense-near-splice,missense-near-splice	PLS3	NM_001136025.3,NM_001172335.1,NM_005032.5	64,64,64	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign,benign	421/631,394/604,421/631	114879419	1,10562	2203	4300	6503	114785675	SO:0001630	splice_region_variant	5358	exon11			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1262+1C>T	X.37:g.114879419C>T			114785675	NM_005032	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084777	0.55861	0.0	1.49E-4	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	5.33	4.41	0.53225	Calponin homology domain (5);	0.304109	0.39909	N	0.001232	D	0.86435	0.5932	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.23891	0.001;0.0;0.093;0.001	B;B;B;B	0.15052	0.005;0.003;0.012;0.003	T	0.82750	-0.0303	10	0.52906	T	0.07	-9.9019	7.0875	0.25266	0.1535:0.5556:0.2909:0.0	.	394;408;385;421	B4DPW9;B4DGB4;F8W8D8;P13797	.;.;.;PLST_HUMAN	V	421;408;385;421;376;15	ENSP00000348163:A421V;ENSP00000445105:A408V;ENSP00000289290:A385V;ENSP00000398945:A421V;ENSP00000445339:A376V;ENSP00000439260:A15V	ENSP00000289290:A385V	A	+	2	0	PLS3	114785675	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.229000	0.42990	2.372000	0.80975	0.600000	0.82982	GCT		0.353	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2		Missense_Mutation
SLC6A14	11254	broad.mit.edu	37	X	115590085	115590085	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:115590085A>C	ENST00000371900.4	+	14	1981	c.1893A>C	c.(1891-1893)gaA>gaC	p.E631D	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	631					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.E631D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTGACCATGAAATACCTACTG	0.388																																					p.E631D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1893C	X						.						125.0	117.0	120.0					X																	115590085		2203	4300	6503	115504113	SO:0001583	missense	11254	exon14			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1893A>C	X.37:g.115590085A>C	ENSP00000360967:p.Glu631Asp		115504113	NM_007231	Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229243	0.39399	.	.	ENSG00000087916	ENST00000371900	T	0.73047	-0.71	5.68	3.3	0.37823	.	0.243443	0.41938	D	0.000796	T	0.42337	0.1198	N	0.08118	0	0.33131	D	0.543121	P	0.40731	0.728	B	0.31946	0.138	T	0.54636	-0.8264	10	0.41790	T	0.15	.	7.2443	0.26114	0.8152:0.0:0.1848:0.0	.	631	Q9UN76	S6A14_HUMAN	D	631	ENSP00000360967:E631D	ENSP00000360967:E631D	E	+	3	2	SLC6A14	115504113	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	1.601000	0.36773	0.869000	0.35703	0.437000	0.28790	GAA		0.388	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		
KLHL13	90293	broad.mit.edu	37	X	117079437	117079437	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:117079437C>T	ENST00000262820.3	-	2	1109	c.200G>A	c.(199-201)cGc>cAc	p.R67H	KLHL13_ENST00000469946.1_Missense_Mutation_p.R16H|KLHL13_ENST00000541812.1_Missense_Mutation_p.R51H|KLHL13_ENST00000371878.1_Missense_Mutation_p.R16H|KLHL13_ENST00000540167.1_Missense_Mutation_p.R51H|KLHL13_ENST00000545703.1_Missense_Mutation_p.R25H|KLHL13_ENST00000371876.1_Missense_Mutation_p.R16H|KLHL13_ENST00000539496.1_Missense_Mutation_p.R70H|KLHL13_ENST00000371882.1_Missense_Mutation_p.R16H	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	67					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.R67H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTAAAGATGCGTGTAGGTCC	0.458																																					p.R61H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G182A	X						.						117.0	96.0	103.0					X																	117079437		2203	4300	6503	116963465	SO:0001583	missense	90293	exon2			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.200G>A	X.37:g.117079437C>T	ENSP00000262820:p.Arg67His		116963465	NM_001168300	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860157	0.91433	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946;ENST00000453826	T;T;T;T;T;T;T;T;T;T	0.71579	-0.56;-0.56;-0.56;-0.56;-0.47;-0.47;-0.57;-0.58;-0.55;-0.56	5.09	5.09	0.68999	BTB/POZ fold (2);	0.109437	0.64402	D	0.000011	T	0.68476	0.3005	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;P;D;P	0.68353	0.933;0.886;0.957;0.858	T	0.69558	-0.5113	10	0.27082	T	0.32	.	16.4339	0.83864	0.0:1.0:0.0:0.0	.	51;70;61;67	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	H	16;16;16;16;51;51;70;67;25;16;16	ENSP00000360949:R16H;ENSP00000360943:R16H;ENSP00000360945:R16H;ENSP00000412640:R16H;ENSP00000444450:R51H;ENSP00000441029:R51H;ENSP00000443191:R70H;ENSP00000262820:R67H;ENSP00000440707:R25H;ENSP00000419803:R16H	ENSP00000262820:R67H	R	-	2	0	KLHL13	116963465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.919000	0.75793	2.490000	0.84030	0.594000	0.82650	CGC		0.458	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
KIAA1210	57481	broad.mit.edu	37	X	118221269	118221269	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:118221269T>G	ENST00000402510.2	-	11	3923	c.3924A>C	c.(3922-3924)caA>caC	p.Q1308H		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1308								p.Q1308H(1)|p.Q1132H(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						GGGAGACTTTTTGCTCATACT	0.478																																					p.Q1308H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3924C	X						.						118.0	110.0	113.0					X																	118221269		1841	4080	5921	118105297	SO:0001583	missense	57481	exon11			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.3924A>C	X.37:g.118221269T>G	ENSP00000384670:p.Gln1308His		118105297	NM_020721	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.66|13.66	2.303121|2.303121	0.40795|0.40795	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.20881	.|2.04	3.98|3.98	-1.35|-1.35	0.09114|0.09114	.|.	.|.	.|.	.|.	.|.	T|T	0.15176|0.15176	0.0366|0.0366	L|L	0.39245|0.39245	1.2|1.2	0.09310|0.09310	N|N	1|1	.|P	.|0.41784	.|0.762	.|B	.|0.41135	.|0.348	T|T	0.14254|0.14254	-1.0479|-1.0479	5|9	.|0.46703	.|T	.|0.11	.|.	3.8458|3.8458	0.08934|0.08934	0.0:0.3544:0.2014:0.4442|0.0:0.3544:0.2014:0.4442	.|.	.|1308	.|Q9ULL0	.|K1210_HUMAN	Q|H	715|1308	.|ENSP00000384670:Q1308H	.|ENSP00000384670:Q1308H	K|Q	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105297|118105297	0.007000|0.007000	0.16637|0.16637	0.001000|0.001000	0.08648|0.08648	0.031000|0.031000	0.12232|0.12232	-0.399000|-0.399000	0.07250|0.07250	-0.357000|-0.357000	0.08175|0.08175	0.417000|0.417000	0.27973|0.27973	AAA|CAA		0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
SLC25A43	203427	broad.mit.edu	37	X	118586877	118586877	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:118586877G>T	ENST00000217909.7	+	5	1219	c.875G>T	c.(874-876)aGa>aTa	p.R292I	SLC25A43_ENST00000488158.1_Intron|SLC25A43_ENST00000336249.7_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	292					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R292I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TTCTGCAAGAGAATCTGTCTT	0.348																																					p.R292I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G875T	X						.						86.0	84.0	84.0					X																	118586877		2203	4300	6503	118470905	SO:0001583	missense	203427	exon5			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.875G>T	X.37:g.118586877G>T	ENSP00000217909:p.Arg292Ile		118470905	NM_145305	O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	37	CCDS14577.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647332	0.67358	.	.	ENSG00000077713	ENST00000217909;ENST00000326714	T	0.80566	-1.39	5.13	5.13	0.70059	Mitochondrial carrier domain (1);	.	.	.	.	D	0.84982	0.5593	M	0.75447	2.3	0.80722	D	1	P	0.41498	0.752	P	0.47573	0.55	D	0.86435	0.1763	9	0.54805	T	0.06	.	16.6184	0.84922	0.0:0.0:1.0:0.0	.	292	Q8WUT9	S2543_HUMAN	I	292;240	ENSP00000217909:R292I	ENSP00000217909:R292I	R	+	2	0	SLC25A43	118470905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.908000	0.69916	2.126000	0.65437	0.600000	0.82982	AGA		0.348	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305	
SLC25A5	292	broad.mit.edu	37	X	118604885	118604885	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:118604885C>T	ENST00000317881.8	+	4	877	c.761C>T	c.(760-762)aCg>aTg	p.T254M	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	254					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)	p.T254M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	TACACAGGCACGCTTGACTGC	0.458																																					p.T254M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C761T	X						.						98.0	79.0	86.0					X																	118604885		2203	4300	6503	118488913	SO:0001583	missense	292	exon4			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.761C>T	X.37:g.118604885C>T	ENSP00000360671:p.Thr254Met		118488913	NM_001152	B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065339	0.76187	.	.	ENSG00000005022	ENST00000317881	T	0.79033	-1.23	5.29	5.29	0.74685	Mitochondrial carrier domain (2);	0.052665	0.85682	D	0.000000	D	0.84374	0.5458	M	0.75085	2.285	0.80722	D	1	D	0.58268	0.982	P	0.53360	0.724	D	0.86724	0.1944	10	0.72032	D	0.01	.	17.1337	0.86733	0.0:1.0:0.0:0.0	.	254	P05141	ADT2_HUMAN	M	254	ENSP00000360671:T254M	ENSP00000360671:T254M	T	+	2	0	SLC25A5	118488913	1.000000	0.71417	0.934000	0.37439	0.785000	0.44390	7.593000	0.82686	2.343000	0.79666	0.594000	0.82650	ACG		0.458	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152	
UBE2A	7319	broad.mit.edu	37	X	118715495	118715495	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:118715495C>A	ENST00000371558.2	+	4	351	c.177C>A	c.(175-177)ttC>ttA	p.F59L	UBE2A_ENST00000346330.3_Intron|UBE2A_ENST00000371569.5_5'UTR	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	59					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|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.F59L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CAATAGAATTCACTGAAGAAT	0.294								Rad6 pathway																													p.F59L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C177A	X						.						86.0	83.0	84.0					X																	118715495		2203	4299	6502	118599523	SO:0001583	missense	7319	exon4			AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.177C>A	X.37:g.118715495C>A	ENSP00000360613:p.Phe59Leu		118599523	NM_003336	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Missense_Mutation	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979516	0.74360	.	.	ENSG00000077721	ENST00000371558	T	0.73897	-0.79	5.83	4.97	0.65823	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.84739	0.0750	10	0.87932	D	0	0.0956	9.3318	0.38027	0.0:0.8353:0.0:0.1647	.	59	P49459	UBE2A_HUMAN	L	59	ENSP00000360613:F59L	ENSP00000360613:F59L	F	+	3	2	UBE2A	118599523	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.469000	0.45110	1.211000	0.43351	0.600000	0.82982	TTC		0.294	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336	
SEPT6	23157	broad.mit.edu	37	X	118797585	118797585	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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_ENST00000394610.1_Silent_p.F67F|SEPT6_ENST00000489216.1_Silent_p.F67F|SEPT6_ENST00000354416.3_Silent_p.F67F|SEPT6_ENST00000394617.2_Silent_p.F97F|SEPT6_ENST00000360156.7_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	
RPL39	6170	broad.mit.edu	37	X	118923917	118923917	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:118923917G>A	ENST00000361575.3	-	2	127	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	SNORA69_ENST00000383895.1_RNA|RPL39_ENST00000468844.1_5'UTR	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39	21					antibacterial humoral response (GO:0019731)|cellular protein metabolic process (GO:0044267)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|innate immune response in mucosa (GO:0002227)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular space (GO:0005615)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R21C(1)		endometrium(1)|large_intestine(2)	3						GGAATGGGACGATTTTGCTTT	0.403																																					p.R21C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C61T	X						.						92.0	82.0	85.0					X																	118923917		2203	4297	6500	118807945	SO:0001583	missense	6170	exon2				CCDS14586.1	Xq24	2013-03-11			ENSG00000198918	ENSG00000198918		"""L ribosomal proteins"""	10350	protein-coding gene	gene with protein product		300899	"""ribosomal protein L39 pseudogene 42"""	RPL39P42		8764829	Standard	NM_001000		Approved	L39	uc004erx.2	P62891	OTTHUMG00000022278	ENST00000361575.3:c.61C>T	X.37:g.118923917G>A	ENSP00000355315:p.Arg21Cys		118807945	NM_001000	P02404|P39025|Q9BYF2	Missense_Mutation	SNP	ENST00000361575.3	37	CCDS14586.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636183	0.47049	.	.	ENSG00000198918	ENST00000361575	.	.	.	4.75	4.75	0.60458	Ribosomal protein L39e domain (2);	0.000000	0.56097	D	0.000038	T	0.47600	0.1454	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.44817	-0.9303	8	0.45353	T	0.12	.	10.9001	0.47047	0.0:0.0:0.8122:0.1878	.	21	P62891	RL39_HUMAN	C	21	.	ENSP00000355315:R21C	R	-	1	0	RPL39	118807945	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	4.249000	0.58766	1.962000	0.57031	0.292000	0.19580	CGT		0.403	RPL39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058047.1	NM_001000	
CUL4B	8450	broad.mit.edu	37	X	119666282	119666282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:119666282C>A	ENST00000404115.3	-	20	2889	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	CUL4B_ENST00000336592.6_Nonsense_Mutation_p.E817*|CUL4B_ENST00000371322.5_Nonsense_Mutation_p.E812*	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	830					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E830*(2)|p.E812*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AATACCGTTTCTTTCATCTGG	0.299																																					p.E812X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G2434T	X						.						92.0	82.0	85.0					X																	119666282		2203	4300	6503	119550310	SO:0001587	stop_gained	8450	exon18			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2488G>T	X.37:g.119666282C>A	ENSP00000384109:p.Glu830*		119550310	NM_001079872	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Nonsense_Mutation	SNP	ENST00000404115.3	37	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	39	7.651120	0.98412	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.6261	16.8778	0.86056	0.0:1.0:0.0:0.0	.	.	.	.	X	812;817;830	.	.	E	-	1	0	CUL4B	119550310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.191000	0.70037	0.513000	0.50165	GAA		0.299	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588	
CUL4B	8450	broad.mit.edu	37	X	119678367	119678367	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:119678367C>T	ENST00000404115.3	-	8	1507	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	CUL4B_ENST00000336592.6_Missense_Mutation_p.R356Q|CUL4B_ENST00000371322.5_Missense_Mutation_p.R351Q|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	369					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R351Q(1)|p.R369Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAAAGGCTTCGAAGTAAACT	0.373																																					p.R351Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1052A	X						.						118.0	103.0	108.0					X																	119678367		2203	4300	6503	119562395	SO:0001583	missense	8450	exon6			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1106G>A	X.37:g.119678367C>T	ENSP00000384109:p.Arg369Gln		119562395	NM_001079872	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865263	0.71949	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.74	5.74	0.90152	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	L	0.58810	1.83	0.80722	D	1	B;D;D	0.54772	0.374;0.968;0.96	B;B;B	0.32393	0.018;0.145;0.09	T	0.74453	-0.3660	9	.	.	.	-5.6714	17.7661	0.88478	0.0:1.0:0.0:0.0	.	173;369;351	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	Q	351;356;369;173	ENSP00000360373:R351Q;ENSP00000338919:R356Q;ENSP00000384109:R369Q;ENSP00000360374:R173Q	.	R	-	2	0	CUL4B	119562395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.754000	0.85163	2.415000	0.81967	0.600000	0.82982	CGA		0.373	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588	
THOC2	57187	broad.mit.edu	37	X	122772821	122772821	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:122772821T>G	ENST00000245838.8	-	17	1835	c.1804A>C	c.(1804-1806)Aaa>Caa	p.K602Q	THOC2_ENST00000355725.4_Missense_Mutation_p.K602Q|THOC2_ENST00000491737.1_Missense_Mutation_p.K487Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	602					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.K602Q(1)|p.K523Q(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTGAGGTATTTCAATGAATCT	0.308																																					p.K602Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1804C	X						.						213.0	199.0	203.0					X																	122772821		1845	4084	5929	122600502	SO:0001583	missense	57187	exon17			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.1804A>C	X.37:g.122772821T>G	ENSP00000245838:p.Lys602Gln		122600502	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948022	0.73787	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.51	4.35	0.52113	THO complex, subunitTHOC2, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.76948	0.4059	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.75929	-0.3144	9	0.46703	T	0.11	-9.8303	10.5682	0.45186	0.0:0.0765:0.0:0.9235	.	527;602	B4DKZ6;Q8NI27	.;THOC2_HUMAN	Q	602;602;487;527	.	ENSP00000245838:K602Q	K	-	1	0	THOC2	122600502	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.037000	0.88933	0.735000	0.32537	-0.450000	0.05554	AAA		0.308	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
THOC2	57187	broad.mit.edu	37	X	122778658	122778658	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:122778658T>G	ENST00000245838.8	-	14	1562	c.1531A>C	c.(1531-1533)Atg>Ctg	p.M511L	THOC2_ENST00000355725.4_Missense_Mutation_p.M511L|THOC2_ENST00000491737.1_Missense_Mutation_p.M396L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	511					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.M432L(1)|p.M511L(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTTTTAAACATTCCCCATAGT	0.318																																					p.M511L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1531C	X						.						93.0	79.0	83.0					X																	122778658		1831	4081	5912	122606339	SO:0001583	missense	57187	exon14			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.1531A>C	X.37:g.122778658T>G	ENSP00000245838:p.Met511Leu		122606339	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574443	0.28092	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	N	0.11064	0.09	0.50039	D	0.999847	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.31194	-0.9952	9	0.02654	T	1	-12.8813	15.1354	0.72562	0.0:0.0:0.0:1.0	.	432;511	B4DKZ6;Q8NI27	.;THOC2_HUMAN	L	511;511;396;432	.	ENSP00000245838:M511L	M	-	1	0	THOC2	122606339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.105000	0.64591	1.957000	0.56846	0.486000	0.48141	ATG		0.318	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
THOC2	57187	broad.mit.edu	37	X	122779202	122779202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:122779202C>A	ENST00000245838.8	-	13	1442	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*	THOC2_ENST00000355725.4_Nonsense_Mutation_p.E471*|THOC2_ENST00000491737.1_Nonsense_Mutation_p.E356*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	471					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.E471*(1)|p.E392*(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCTTTATCTTCTTGTTTGCTT	0.254																																					p.E471X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1411T	X						.						154.0	122.0	132.0					X																	122779202		1782	4044	5826	122606883	SO:0001587	stop_gained	57187	exon13			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.1411G>T	X.37:g.122779202C>A	ENSP00000245838:p.Glu471*		122606883	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Nonsense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	38	7.126205	0.98081	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.68	5.68	0.88126	.	0.079868	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-10.9641	18.9446	0.92616	0.0:1.0:0.0:0.0	.	.	.	.	X	471;471;356;392	.	ENSP00000245838:E471X	E	-	1	0	THOC2	122606883	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.102000	0.50291	2.508000	0.84585	0.600000	0.82982	GAA		0.254	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
THOC2	57187	broad.mit.edu	37	X	122799603	122799603	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:122799603C>A	ENST00000245838.8	-	12	1307	c.1276G>T	c.(1276-1278)Gat>Tat	p.D426Y	THOC2_ENST00000355725.4_Missense_Mutation_p.D426Y|THOC2_ENST00000491737.1_Missense_Mutation_p.D311Y	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	426					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.D347Y(1)|p.D426Y(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCCTCAAATCTTCAAAGCTC	0.403																																					p.D426Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1276T	X						.						176.0	165.0	168.0					X																	122799603		1866	4093	5959	122627284	SO:0001583	missense	57187	exon12			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.1276G>T	X.37:g.122799603C>A	ENSP00000245838:p.Asp426Tyr		122627284	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028815	0.93518	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	D	0.83681	0.5307	M	0.86028	2.79	0.80722	D	1	D;D	0.63880	0.988;0.993	P;D	0.66196	0.756;0.942	D	0.86261	0.1655	9	0.87932	D	0	-15.5979	18.7856	0.91954	0.0:1.0:0.0:0.0	.	347;426	B4DKZ6;Q8NI27	.;THOC2_HUMAN	Y	426;426;311;347	.	ENSP00000245838:D426Y	D	-	1	0	THOC2	122627284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.794000	0.85869	2.382000	0.81193	0.600000	0.82982	GAT		0.403	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
STAG2	10735	broad.mit.edu	37	X	123191804	123191804	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:123191804G>T	ENST00000371160.1	+	15	1683	c.1393G>T	c.(1393-1395)Gtt>Ttt	p.V465F	STAG2_ENST00000371144.3_Missense_Mutation_p.V465F|STAG2_ENST00000354548.5_Missense_Mutation_p.V396F|STAG2_ENST00000371157.3_Missense_Mutation_p.V465F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.V465F|STAG2_ENST00000371145.3_Missense_Mutation_p.V465F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	465					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.V465F(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						TAAGACATTGGTTTTTTTCTT	0.348																																					p.V465F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1393T	X						.						134.0	121.0	125.0					X																	123191804		2203	4300	6503	123019485	SO:0001583	missense	10735	exon15			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.1393G>T	X.37:g.123191804G>T	ENSP00000360202:p.Val465Phe		123019485	NM_001042750	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072433	0.93950	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.52057	1.62;0.68;1.24;1.23;1.23;1.62;1.23	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.61218	1.895	0.80722	D	1	D;D	0.67145	0.996;0.984	D;P	0.66979	0.948;0.852	T	0.67715	-0.5599	10	0.56958	D	0.05	-9.146	18.8857	0.92376	0.0:0.0:1.0:0.0	.	465;465	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	F	465;465;396;465;465;465;465	ENSP00000218089:V465F;ENSP00000397265:V465F;ENSP00000346555:V396F;ENSP00000360202:V465F;ENSP00000360199:V465F;ENSP00000360187:V465F;ENSP00000360186:V465F	ENSP00000218089:V465F	V	+	1	0	STAG2	123019485	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.624000	0.98398	2.407000	0.81776	0.600000	0.82982	GTT		0.348	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
TENM1	10178	broad.mit.edu	37	X	123587226	123587226	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:123587226T>C	ENST00000371130.3	-	22	4107	c.4044A>G	c.(4042-4044)acA>acG	p.T1348T	TENM1_ENST00000422452.2_Silent_p.T1355T|TENM1_ENST00000461429.1_5'Flank	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1348					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T1350T(1)									TCAGTGGTTGTGTGGAAGTCA	0.408																																					p.T1348T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4044G	X						.						290.0	205.0	234.0					X																	123587226		2203	4300	6503	123414907	SO:0001819	synonymous_variant	10178	exon22			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4044A>G	X.37:g.123587226T>C			123414907	NM_014253	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																				0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	broad.mit.edu	37	X	123615732	123615732	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:123615732C>A	ENST00000371130.3	-	21	3841	c.3778G>T	c.(3778-3780)Gtc>Ttc	p.V1260F	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.V1267F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1260					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V1262F(1)									AACTTGTAGACTTTGCGAGTA	0.438																																					p.V1260F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3778T	X						.						157.0	134.0	142.0					X																	123615732		2203	4300	6503	123443413	SO:0001583	missense	10178	exon21			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3778G>T	X.37:g.123615732C>A	ENSP00000360171:p.Val1260Phe		123443413	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921351	0.73213	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.92752	-3.1;-3.1	4.86	4.86	0.63082	Six-bladed beta-propeller, TolB-like (1);	0.074765	0.53938	D	0.000054	D	0.94761	0.8309	M	0.87827	2.91	0.58432	D	0.999996	D;D;D	0.59767	0.986;0.976;0.967	P;P;P	0.50136	0.541;0.524;0.632	D	0.95814	0.8844	10	0.87932	D	0	.	17.4266	0.87528	0.0:1.0:0.0:0.0	.	1266;1267;1260	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	1260;1267	ENSP00000360171:V1260F;ENSP00000403954:V1267F	ENSP00000360171:V1260F	V	-	1	0	ODZ1	123443413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.269000	0.51592	2.128000	0.65567	0.600000	0.82982	GTC		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	broad.mit.edu	37	X	124028186	124028186	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:124028186G>A	ENST00000371130.3	-	3	557	c.494C>T	c.(493-495)cCt>cTt	p.P165L	TENM1_ENST00000422452.2_Missense_Mutation_p.P165L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	165	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P165L(1)									ACAACAAACAGGAGAGAATTT	0.408																																					p.P165L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C494T	X						.						130.0	120.0	123.0					X																	124028186		2203	4300	6503	123855867	SO:0001583	missense	10178	exon3			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.494C>T	X.37:g.124028186G>A	ENSP00000360171:p.Pro165Leu		123855867	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	g	13.35	2.209526	0.39003	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.50813	0.73;0.73	3.77	3.77	0.43336	Teneurin intracellular, N-terminal (2);	0.424390	0.21532	N	0.073023	T	0.56673	0.2001	L	0.39898	1.24	0.49798	D	0.999826	P;P;B	0.52842	0.956;0.956;0.0	D;D;B	0.73708	0.981;0.981;0.001	T	0.58595	-0.7609	10	0.87932	D	0	.	10.1366	0.42710	0.0:0.0:1.0:0.0	.	165;165;165	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	165	ENSP00000360171:P165L;ENSP00000403954:P165L	ENSP00000360171:P165L	P	-	2	0	ODZ1	123855867	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.813000	0.55636	2.145000	0.66743	0.530000	0.56133	CCT		0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
DCAF12L2	340578	broad.mit.edu	37	X	125298540	125298540	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:125298540C>T	ENST00000360028.2	-	1	1394	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	DCAF12L2_ENST00000538699.1_Silent_p.G456G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	456								p.G456G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGCGTAGTTCCCATGGAGGC	0.547																																					p.G456G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1368A	X						.						60.0	63.0	62.0					X																	125298540		2203	4300	6503	125126221	SO:0001819	synonymous_variant	340578	exon1			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1368G>A	X.37:g.125298540C>T			125126221	NM_001013628	B2RN42	Silent	SNP	ENST00000360028.2	37	CCDS43991.1																																																																																				0.547	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
DCAF12L1	139170	broad.mit.edu	37	X	125686237	125686237	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:125686237T>C	ENST00000371126.1	-	1	597	c.355A>G	c.(355-357)Acg>Gcg	p.T119A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	119								p.T119A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACGAAAAGCGTGTTACACTTG	0.637																																					p.T119A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A355G	X						.						123.0	92.0	103.0					X																	125686237		2203	4300	6503	125513918	SO:0001583	missense	139170	exon1			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.355A>G	X.37:g.125686237T>C	ENSP00000360167:p.Thr119Ala		125513918	NM_178470	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	t	18.17	3.563845	0.65651	.	.	ENSG00000198889	ENST00000371126	T	0.44482	0.92	3.47	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.42944	0.1225	M	0.72894	2.215	0.28537	N	0.912275	D	0.58268	0.982	B	0.42882	0.401	T	0.46857	-0.9161	9	0.62326	D	0.03	.	9.5832	0.39501	0.0:0.0:0.0:1.0	.	119	Q5VU92	DC121_HUMAN	A	119	ENSP00000360167:T119A	ENSP00000360167:T119A	T	-	1	0	DCAF12L1	125513918	1.000000	0.71417	0.897000	0.35233	0.888000	0.51559	6.956000	0.76013	1.618000	0.50286	0.343000	0.21770	ACG		0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
ACTRT1	139741	broad.mit.edu	37	X	127186027	127186027	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:127186027C>T	ENST00000371124.3	-	1	355	c.159G>A	c.(157-159)caG>caA	p.Q53Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	53						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q53Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGAAGTACTTCTGATTAAGTC	0.498																																					p.Q53Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G159A	X						.						96.0	87.0	90.0					X																	127186027		2203	4300	6503	127013708	SO:0001819	synonymous_variant	139741	exon1			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.159G>A	X.37:g.127186027C>T			127013708	NM_138289	Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	CCDS14611.1																																																																																				0.498	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
OCRL	4952	broad.mit.edu	37	X	128703273	128703273	+	Missense_Mutation	SNP	G	G	A	rs137853260		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:128703273G>A	ENST00000371113.4	+	15	1664	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q	OCRL_ENST00000357121.5_Missense_Mutation_p.R500Q	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	500	5-phosphatase.		R -> G (in OCRL).|R -> Q (in OCRL; dbSNP:rs137853260). {ECO:0000269|PubMed:10767176, ECO:0000269|PubMed:9632163, ECO:0000269|PubMed:9682219}.		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R500Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGGTGTGACCGAATTCTTTGG	0.428																																					p.R500Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499A	X	GRCh37	CM981410	OCRL	M	rs137853260	.						158.0	146.0	150.0					X																	128703273		2203	4300	6503	128530954	SO:0001583	missense	4952	exon15			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1499G>A	X.37:g.128703273G>A	ENSP00000360154:p.Arg500Gln		128530954	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552954	0.96501	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.82893	-1.66;-1.66	5.82	5.82	0.92795	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.060005	0.64402	N	0.000004	D	0.95868	0.8655	H	0.99877	4.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98152	1.0442	10	0.87932	D	0	.	17.4154	0.87498	0.0:0.0:1.0:0.0	.	500;500	Q01968-2;Q01968	.;OCRL_HUMAN	Q	500	ENSP00000360154:R500Q;ENSP00000349635:R500Q	ENSP00000349635:R500Q	R	+	2	0	OCRL	128530954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.462000	0.97649	2.431000	0.82371	0.500000	0.49745	CGA		0.428	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
OCRL	4952	broad.mit.edu	37	X	128722240	128722240	+	Splice_Site	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:128722240C>T	ENST00000371113.4	+	21	2506	c.2341C>T	c.(2341-2343)Cct>Tct	p.P781S	OCRL_ENST00000357121.5_Splice_Site_p.P773S	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	781	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.P781S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGAGACAATCCGTATCCTTTG	0.423																																					p.P773S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2317T	X						.						74.0	65.0	68.0					X																	128722240		2203	4300	6503	128549921	SO:0001630	splice_region_variant	4952	exon20			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2341+1C>T	X.37:g.128722240C>T			128549921	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330618	0.41297	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.17213	2.29;2.29	5.38	5.38	0.77491	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.176973	0.51477	D	0.000082	T	0.15565	0.0375	L	0.28649	0.875	0.80722	D	1	P;P	0.46578	0.88;0.841	B;B	0.43386	0.191;0.418	T	0.06881	-1.0802	10	0.15952	T	0.53	.	16.637	0.85061	0.0:1.0:0.0:0.0	.	773;781	Q01968-2;Q01968	.;OCRL_HUMAN	S	781;773	ENSP00000360154:P781S;ENSP00000349635:P773S	ENSP00000349635:P773S	P	+	1	0	OCRL	128549921	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.454000	0.60068	2.237000	0.73441	0.600000	0.82982	CCT		0.423	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Missense_Mutation
XPNPEP2	7512	broad.mit.edu	37	X	128884528	128884528	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:128884528C>T	ENST00000371106.3	+	8	914	c.722C>T	c.(721-723)gCg>gTg	p.A241V		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	241						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.A241V(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTTCTGTCGGCGCTTGAGGAG	0.607																																					p.A241V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722T	X						.						51.0	35.0	40.0					X																	128884528		2201	4297	6498	128712209	SO:0001583	missense	7512	exon8			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.722C>T	X.37:g.128884528C>T	ENSP00000360147:p.Ala241Val		128712209	NM_003399	A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.850087	0.32699	.	.	ENSG00000122121	ENST00000371106	T	0.46819	0.86	5.12	4.26	0.50523	.	0.155351	0.56097	D	0.000025	T	0.45377	0.1339	M	0.85197	2.74	0.35000	D	0.755863	P	0.41498	0.752	B	0.26094	0.066	T	0.64166	-0.6471	10	0.87932	D	0	-18.8143	10.5149	0.44883	0.0:0.9023:0.0:0.0977	.	241	O43895	XPP2_HUMAN	V	241	ENSP00000360147:A241V	ENSP00000360147:A241V	A	+	2	0	XPNPEP2	128712209	0.992000	0.36948	0.007000	0.13788	0.207000	0.24258	2.907000	0.48743	0.933000	0.37291	0.513000	0.50165	GCG		0.607	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	
XPNPEP2	7512	broad.mit.edu	37	X	128901641	128901641	+	Silent	SNP	C	C	T	rs373694839		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:128901641C>T	ENST00000371106.3	+	20	1995	c.1803C>T	c.(1801-1803)atC>atT	p.I601I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	601						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.I601I(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGAACCTCATCGATGTCAGCC	0.572																																					p.I601I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1803T	X						.	C		0,3835		0,0,1632,571	254.0	171.0	199.0		1803	-4.3	0.7	X		199	1,6727		0,1,2427,1872	no	coding-synonymous	XPNPEP2	NM_003399.5		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		601/675	128901641	1,10562	2203	4300	6503	128729322	SO:0001819	synonymous_variant	7512	exon20			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.1803C>T	X.37:g.128901641C>T			128729322	NM_003399	A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																				0.572	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	
UTP14A	10813	broad.mit.edu	37	X	129045118	129045118	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:129045118A>T	ENST00000394422.3	+	5	401	c.373A>T	c.(373-375)Att>Ttt	p.I125F	UTP14A_ENST00000425117.2_Missense_Mutation_p.I125F|UTP14A_ENST00000371051.5_Missense_Mutation_p.I71F|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_5'Flank	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	125					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.I125F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAAAGAAGAGATTGAACGGGT	0.383																																					p.I125F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A373T	X						.						114.0	107.0	109.0					X																	129045118		2203	4300	6503	128872799	SO:0001583	missense	10813	exon5			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.373A>T	X.37:g.129045118A>T	ENSP00000377944:p.Ile125Phe		128872799	NM_006649	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883847	0.51908	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051	T;T;T	0.17213	2.29;2.29;2.29	4.93	-0.104	0.13605	.	0.637491	0.16864	N	0.196393	T	0.19927	0.0479	L	0.51422	1.61	0.80722	D	1	P;B;P	0.42296	0.775;0.332;0.707	B;B;P	0.46685	0.368;0.295;0.524	T	0.03910	-1.0993	10	0.56958	D	0.05	-0.1941	9.474	0.38860	0.7005:0.0:0.2995:0.0	.	71;125;125	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	F	125;125;71	ENSP00000388669:I125F;ENSP00000377944:I125F;ENSP00000360090:I71F	ENSP00000360090:I71F	I	+	1	0	UTP14A	128872799	0.999000	0.42202	0.991000	0.47740	0.743000	0.42351	0.755000	0.26405	-0.025000	0.13918	0.341000	0.21757	ATT		0.383	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	
UTP14A	10813	broad.mit.edu	37	X	129059953	129059953	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:129059953A>T	ENST00000394422.3	+	13	1836	c.1808A>T	c.(1807-1809)gAt>gTt	p.D603V	UTP14A_ENST00000425117.2_Missense_Mutation_p.D551V|UTP14A_ENST00000371051.5_Missense_Mutation_p.D549V|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.D435V	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	603					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.D603V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GCTGGGGATGATGTCATCAGA	0.507											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D603V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1808T	X						.						73.0	67.0	69.0					X																	129059953		2203	4300	6503	128887634	SO:0001583	missense	10813	exon13			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1808A>T	X.37:g.129059953A>T	ENSP00000377944:p.Asp603Val	1569	128887634	NM_006649	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102705	0.76983	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	M	0.92026	3.265	0.80722	D	1	D;D;D	0.62365	0.959;0.991;0.967	P;D;P	0.66979	0.828;0.948;0.846	T	0.75462	-0.3309	10	0.87932	D	0	-25.9741	14.4184	0.67165	1.0:0.0:0.0:0.0	.	549;551;603	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	V	551;603;549;435	ENSP00000388669:D551V;ENSP00000377944:D603V;ENSP00000360090:D549V;ENSP00000360081:D435V	ENSP00000360081:D435V	D	+	2	0	UTP14A	128887634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.901000	0.75693	1.937000	0.56155	0.486000	0.48141	GAT		0.507	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	
FAM9C	171484	broad.mit.edu	37	X	13058908	13058908	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:13058908T>C	ENST00000333995.3	-	5	428	c.298A>G	c.(298-300)Aaa>Gaa	p.K100E	FAM9C_ENST00000542843.1_3'UTR|FAM9C_ENST00000380625.3_Missense_Mutation_p.K100E			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	100						nucleus (GO:0005634)		p.K100E(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						AAAACATTTTTAATTCTGTTC	0.284																																					p.K100E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A298G	X						.						106.0	84.0	91.0					X																	13058908		2202	4294	6496	12968829	SO:0001583	missense	171484	exon5				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.298A>G	X.37:g.13058908T>C	ENSP00000334430:p.Lys100Glu		12968829	NM_174901	B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	CCDS35203.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.815007	0.00600	.	.	ENSG00000187268	ENST00000380625;ENST00000333995	T;T	0.21361	2.01;2.01	0.588	-0.668	0.11392	.	.	.	.	.	T	0.07818	0.0196	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39143	-0.9628	8	0.02654	T	1	.	.	.	.	.	100	Q8IZT9	FAM9C_HUMAN	E	100	ENSP00000369999:K100E;ENSP00000334430:K100E	ENSP00000334430:K100E	K	-	1	0	FAM9C	12968829	1.000000	0.71417	0.000000	0.03702	0.029000	0.11900	0.287000	0.18920	-0.357000	0.08175	0.150000	0.16122	AAA		0.284	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901	
AIFM1	9131	broad.mit.edu	37	X	129272596	129272596	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:129272596G>A	ENST00000287295.3	-	9	1169	c.939C>T	c.(937-939)agC>agT	p.S313S	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000535724.1_Silent_p.S226S|AIFM1_ENST00000319908.3_Silent_p.S309S|AIFM1_ENST00000440263.1_5'Flank	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	313	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.S313S(1)|p.S309S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	AGGCCAGTTCGCTACCAAGGA	0.438																																					p.S309S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C927T	X						.						124.0	112.0	116.0					X																	129272596		2203	4300	6503	129100277	SO:0001819	synonymous_variant	9131	exon9			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.939C>T	X.37:g.129272596G>A			129100277	NM_145812	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	CCDS14618.1																																																																																				0.438	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
IGSF1	3547	broad.mit.edu	37	X	130409700	130409700	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:130409700G>T	ENST00000361420.3	-	16	3015	c.2936C>A	c.(2935-2937)tCt>tAt	p.S979Y	IGSF1_ENST00000370904.1_Missense_Mutation_p.S970Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.S970Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.S984Y|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	979	Ig-like C2-type 10.				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.S979Y(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						GGGAACCACAGAACTGGGCTC	0.473																																					p.S970Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2909A	X						.						118.0	106.0	110.0					X																	130409700		2203	4300	6503	130237381	SO:0001583	missense	3547	exon15			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.2936C>A	X.37:g.130409700G>T	ENSP00000355010:p.Ser979Tyr		130237381	NM_001170962	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279042	0.40294	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.19	5.19	0.71726	Immunoglobulin-like fold (1);	0.340325	0.21786	N	0.069125	T	0.38268	0.1034	M	0.78637	2.42	0.34561	D	0.712415	D;D;D	0.71674	0.996;0.997;0.998	D;D;D	0.83275	0.963;0.968;0.996	T	0.52675	-0.8544	10	0.59425	D	0.04	.	13.5595	0.61779	0.0:0.0:1.0:0.0	.	970;423;979	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Y	970;979;970;984	ENSP00000359947:S970Y;ENSP00000355010:S979Y;ENSP00000359941:S970Y;ENSP00000359940:S984Y	ENSP00000355010:S979Y	S	-	2	0	IGSF1	130237381	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.149000	0.42244	2.510000	0.84645	0.529000	0.55759	TCT		0.473	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
USP26	83844	broad.mit.edu	37	X	132161522	132161522	+	Missense_Mutation	SNP	C	C	T	rs185719820		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:132161522C>T	ENST00000511190.1	-	6	1196	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	USP26_ENST00000370832.1_Missense_Mutation_p.A243T|USP26_ENST00000406273.1_Missense_Mutation_p.A243T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	243					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.A243T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTCCAGTGGCGTTCATGATG	0.373													C|||	1	0.000264901	0.0	0.0	3775	,	,		13343	0.001		0.0	False		,,,				2504	0.0				p.A243T	NSCLC(104;342 1621 36940 47097 52632)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G727A	X						.						105.0	84.0	91.0					X																	132161522		2203	4300	6503	131989188	SO:0001583	missense	83844	exon1			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.727G>A	X.37:g.132161522C>T	ENSP00000423390:p.Ala243Thr		131989188	NM_031907	B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	CCDS14635.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.674	0.308971	0.10733	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.54071	0.59;0.59;0.59	3.89	-5.12	0.02893	.	1.765160	0.03756	N	0.257342	T	0.19005	0.0456	N	0.01352	-0.895	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.06552	-1.0820	10	0.46703	T	0.11	0.4206	0.3803	0.00394	0.2082:0.295:0.212:0.2847	.	243	Q9BXU7	UBP26_HUMAN	T	243	ENSP00000359869:A243T;ENSP00000423390:A243T;ENSP00000384360:A243T	ENSP00000359869:A243T	A	-	1	0	USP26	131989188	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.799000	0.04560	-1.292000	0.02366	-1.529000	0.00923	GCC		0.373	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907	
USP26	83844	broad.mit.edu	37	X	132161863	132161863	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:132161863T>G	ENST00000511190.1	-	6	855	c.386A>C	c.(385-387)aAa>aCa	p.K129T	USP26_ENST00000370832.1_Missense_Mutation_p.K129T|USP26_ENST00000406273.1_Missense_Mutation_p.K129T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	129					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.K129T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GAATGAAGTTTTGTTGATTTC	0.423																																					p.K129T	NSCLC(104;342 1621 36940 47097 52632)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A386C	X						.						77.0	57.0	63.0					X																	132161863		2203	4299	6502	131989529	SO:0001583	missense	83844	exon1			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.386A>C	X.37:g.132161863T>G	ENSP00000423390:p.Lys129Thr		131989529	NM_031907	B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404060	0.42613	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55588	0.51;0.51;0.51	3.29	2.07	0.26955	.	1.489690	0.04749	N	0.424197	T	0.66684	0.2814	M	0.67953	2.075	0.09310	N	1	D	0.59767	0.986	P	0.61477	0.889	T	0.41538	-0.9503	10	0.72032	D	0.01	-0.7254	5.7255	0.18010	0.0:0.0:0.2765:0.7235	.	129	Q9BXU7	UBP26_HUMAN	T	129	ENSP00000359869:K129T;ENSP00000423390:K129T;ENSP00000384360:K129T	ENSP00000359869:K129T	K	-	2	0	USP26	131989529	0.001000	0.12720	0.006000	0.13384	0.077000	0.17291	0.957000	0.29215	0.458000	0.26988	0.417000	0.27973	AAA		0.423	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907	
GPC4	2239	broad.mit.edu	37	X	132438854	132438854	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:132438854C>A	ENST00000370828.3	-	7	1715	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	GPC4_ENST00000535467.1_Missense_Mutation_p.K327N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	397					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|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)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.K397N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACCAGAATTTCTTGGCCTGTT	0.423																																					p.K397N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1191T	X						.						220.0	179.0	193.0					X																	132438854		2203	4300	6503	132266520	SO:0001583	missense	2239	exon7			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1191G>T	X.37:g.132438854C>A	ENSP00000359864:p.Lys397Asn		132266520	NM_001448	B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050368	0.75960	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.54675	0.56;0.56	5.13	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.82716	2.605	0.80722	D	1	P	0.45126	0.851	P	0.49301	0.606	T	0.61013	-0.7148	10	0.72032	D	0.01	-13.423	4.2348	0.10620	0.0:0.4611:0.0:0.5389	.	397	O75487	GPC4_HUMAN	N	397;391;327	ENSP00000359864:K397N;ENSP00000444959:K327N	ENSP00000359864:K397N	K	-	3	2	GPC4	132266520	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.655000	0.24933	0.943000	0.37553	0.594000	0.82650	AAG		0.423	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448	
GPC4	2239	broad.mit.edu	37	X	132473363	132473363	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:132473363T>C	ENST00000370828.3	-	2	691	c.167A>G	c.(166-168)cAt>cGt	p.H56R	GPC4_ENST00000535467.1_5'UTR	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	56					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|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)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.H56R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GATCTTCAAATGATCACCTGC	0.423																																					p.H56R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A167G	X						.						89.0	75.0	80.0					X																	132473363		2203	4300	6503	132301029	SO:0001583	missense	2239	exon2			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.167A>G	X.37:g.132473363T>C	ENSP00000359864:p.His56Arg		132301029	NM_001448	B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773177	0.69992	.	.	ENSG00000076716	ENST00000370828;ENST00000536418	T	0.54675	0.56	6.08	6.08	0.98989	.	0.096116	0.64402	D	0.000001	T	0.73583	0.3605	M	0.84082	2.675	0.80722	D	1	D	0.63046	0.992	D	0.66847	0.947	T	0.78084	-0.2342	10	0.87932	D	0	-4.8749	14.2183	0.65807	0.0:0.0:0.0:1.0	.	56	O75487	GPC4_HUMAN	R	56	ENSP00000359864:H56R	ENSP00000359864:H56R	H	-	2	0	GPC4	132301029	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.109000	0.64615	2.044000	0.60594	0.486000	0.48141	CAT		0.423	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448	
GPC3	2719	broad.mit.edu	37	X	132887895	132887895	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:132887895T>C	ENST00000370818.3	-	3	1091	c.646A>G	c.(646-648)Atg>Gtg	p.M216V	GPC3_ENST00000543339.1_Missense_Mutation_p.M162V|GPC3_ENST00000394299.2_Missense_Mutation_p.M216V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	216					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.M216V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACCTGGGTCATAATAAGCTTG	0.468			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.M200V		yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A598G	X						.						366.0	273.0	305.0					X																	132887895		2203	4300	6503	132715561	SO:0001583	missense	2719	exon3	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.646A>G	X.37:g.132887895T>C	ENSP00000359854:p.Met216Val		132715561	NM_001164618	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	T	8.218	0.801760	0.16397	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.51325	0.71;0.71;0.71	5.82	5.82	0.92795	.	0.037398	0.85682	D	0.000000	T	0.42653	0.1212	L	0.41710	1.295	0.36079	D	0.842633	B;B;B;B	0.17852	0.024;0.019;0.012;0.024	B;B;B;B	0.28385	0.089;0.078;0.089;0.055	T	0.47275	-0.9130	10	0.27785	T	0.31	.	14.2421	0.65963	0.0:0.0:0.0:1.0	.	200;162;216;216	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	V	216;216;162	ENSP00000359854:M216V;ENSP00000377836:M216V;ENSP00000444222:M162V	ENSP00000359854:M216V	M	-	1	0	GPC3	132715561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.044000	0.49830	1.962000	0.57031	0.481000	0.45027	ATG		0.468	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484	
CCDC160	347475	broad.mit.edu	37	X	133379296	133379296	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:133379296G>T	ENST00000517294.1	+	3	849	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	CCDC160_ENST00000370809.4_Nonsense_Mutation_p.E156*			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	156								p.E156*(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AGAACTGGAAGAACTTAATAT	0.294																																					p.E156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G466T	X						.						16.0	14.0	15.0					X																	133379296		1789	4027	5816	133206962	SO:0001587	stop_gained	347475	exon2			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.466G>T	X.37:g.133379296G>T	ENSP00000427951:p.Glu156*		133206962	NM_001101357		Nonsense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951517	0.73787	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	4.99	4.11	0.48088	.	0.675687	0.13342	N	0.395090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	0.542	12.6818	0.56926	0.0:0.3088:0.6912:0.0	.	.	.	.	X	156	.	ENSP00000359845:E156X	E	+	1	0	CCDC160	133206962	1.000000	0.71417	0.684000	0.30055	0.113000	0.19764	2.573000	0.46007	0.969000	0.38237	0.513000	0.50165	GAA		0.294	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
CCDC160	347475	broad.mit.edu	37	X	133379359	133379359	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:133379359C>T	ENST00000517294.1	+	3	912	c.529C>T	c.(529-531)Cac>Tac	p.H177Y	CCDC160_ENST00000370809.4_Missense_Mutation_p.H177Y			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	177								p.H177Y(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AGAACTTTTGCACTACAAAAA	0.303																																					p.H177Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C529T	X						.						20.0	16.0	17.0					X																	133379359		1784	4027	5811	133207025	SO:0001583	missense	347475	exon2			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.529C>T	X.37:g.133379359C>T	ENSP00000427951:p.His177Tyr		133207025	NM_001101357		Missense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.609409	0.00121	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.90900	-2.75;-2.75	4.85	2.32	0.28847	.	0.363834	0.23107	N	0.051849	T	0.73305	0.3570	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.59059	-0.7525	10	0.02654	T	1	-16.4455	5.4237	0.16413	0.4909:0.3377:0.0:0.1714	.	177	A6NGH7	CC160_HUMAN	Y	177	ENSP00000427951:H177Y;ENSP00000359845:H177Y	ENSP00000359845:H177Y	H	+	1	0	CCDC160	133207025	0.011000	0.17503	0.507000	0.27676	0.010000	0.07245	0.172000	0.16704	0.154000	0.19237	-1.801000	0.00618	CAC		0.303	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
CCDC160	347475	broad.mit.edu	37	X	133379614	133379614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:133379614G>T	ENST00000517294.1	+	3	1167	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	CCDC160_ENST00000370809.4_Nonsense_Mutation_p.E262*			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	262								p.E262*(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						CCTAAAAGAAGAAATGAAATC	0.378																																					p.E262X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G784T	X						.						33.0	30.0	31.0					X																	133379614		1833	4065	5898	133207280	SO:0001587	stop_gained	347475	exon2			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.784G>T	X.37:g.133379614G>T	ENSP00000427951:p.Glu262*		133207280	NM_001101357		Nonsense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158734	0.78226	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.29	4.18	0.49190	.	0.127173	0.35320	N	0.003296	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-12.6953	4.0512	0.09796	0.3432:0.0:0.6568:0.0	.	.	.	.	X	262	.	ENSP00000359845:E262X	E	+	1	0	CCDC160	133207280	1.000000	0.71417	0.975000	0.42487	0.074000	0.17049	2.582000	0.46085	2.334000	0.79466	0.513000	0.50165	GAA		0.378	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
MOSPD1	56180	broad.mit.edu	37	X	134031041	134031041	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:134031041C>T	ENST00000370783.3	-	4	440	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	MOSPD1_ENST00000370779.4_Missense_Mutation_p.R85Q|MOSPD1_ENST00000491609.1_5'UTR|Z83826.1_ENST00000408372.1_RNA|MOSPD1_ENST00000370777.1_Missense_Mutation_p.R85Q	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	85	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)	p.R85Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GTGACAGGATCGAACATCTCG	0.423																																					p.R85Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G254A	X						.						100.0	90.0	94.0					X																	134031041		2203	4300	6503	133858707	SO:0001583	missense	56180	exon4			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.254G>A	X.37:g.134031041C>T	ENSP00000359819:p.Arg85Gln		133858707	NM_019556	B2RE62|D3DTG5|Q5H9C5|Q5H9C7	Missense_Mutation	SNP	ENST00000370783.3	37	CCDS14645.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981262	0.53827	.	.	ENSG00000101928	ENST00000370783;ENST00000370779;ENST00000370777	T;T;T	0.72282	-0.64;-0.64;-0.64	5.84	4.98	0.66077	PapD-like (2);	0.057500	0.64402	N	0.000001	T	0.61553	0.2356	L	0.38531	1.155	0.80722	D	1	B;B;D	0.60575	0.002;0.0;0.988	B;B;P	0.45037	0.004;0.002;0.467	T	0.57481	-0.7804	10	0.14252	T	0.57	0.1786	13.1547	0.59509	0.0:0.9219:0.0:0.0781	.	85;85;85	B4DR28;Q9UJG1;Q9UJG1-2	.;MSPD1_HUMAN;.	Q	85	ENSP00000359819:R85Q;ENSP00000359815:R85Q;ENSP00000359813:R85Q	ENSP00000359813:R85Q	R	-	2	0	MOSPD1	133858707	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.631000	0.67812	1.209000	0.43321	0.600000	0.82982	CGA		0.423	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085439.1	NM_019556	
ZNF75D	7626	broad.mit.edu	37	X	134421769	134421769	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:134421769A>T	ENST00000370766.3	-	7	3542	c.833T>A	c.(832-834)cTa>cAa	p.L278Q	ZNF75D_ENST00000370764.1_Missense_Mutation_p.L183Q|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	278	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.L278Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTCATTTTTTAGCTTTAACCC	0.338																																					p.L278Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T833A	X						.						62.0	53.0	56.0					X																	134421769		2202	4298	6500	134249435	SO:0001583	missense	7626	exon6			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.833T>A	X.37:g.134421769A>T	ENSP00000359802:p.Leu278Gln		134249435	NM_007131	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	A	5.859	0.342698	0.11069	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.00882	5.58;5.58	2.94	1.78	0.24846	Krueppel-associated box (3);	0.926814	0.08762	N	0.897530	T	0.01421	0.0046	L	0.46157	1.445	0.23636	N	0.997234	D;D	0.54964	0.969;0.969	P;B	0.48654	0.585;0.445	T	0.47861	-0.9084	10	0.13853	T	0.58	.	5.7478	0.18130	0.8565:0.0:0.1435:0.0	.	278;183	P51815;A6NK62	ZN75D_HUMAN;.	Q	278;183	ENSP00000359802:L278Q;ENSP00000359800:L183Q	ENSP00000359800:L183Q	L	-	2	0	ZNF75D	134249435	0.000000	0.05858	0.595000	0.28798	0.133000	0.20885	-0.501000	0.06398	0.399000	0.25367	0.339000	0.21740	CTA		0.338	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131	
DDX26B	203522	broad.mit.edu	37	X	134711279	134711279	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:134711279C>T	ENST00000370752.4	+	14	2269	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	645								p.G645G(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGTGGGCGGAAAGGGAC	0.488																																					p.G645G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1935T	X						.						220.0	178.0	192.0					X																	134711279		2203	4300	6503	134538945	SO:0001819	synonymous_variant	203522	exon14			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1935C>T	X.37:g.134711279C>T			134538945	NM_182540	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	CCDS35401.1																																																																																				0.488	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	
MAP7D3	79649	broad.mit.edu	37	X	135328416	135328416	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:135328416G>A	ENST00000316077.9	-	2	375	c.155C>T	c.(154-156)tCg>tTg	p.S52L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.S34L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.S52L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	52					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.S349L(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTTAAATGTCGATCTTATATT	0.333																																					p.S52L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155T	X						.						97.0	84.0	88.0					X																	135328416		1867	4094	5961	135156082	SO:0001583	missense	79649	exon2			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.155C>T	X.37:g.135328416G>A	ENSP00000318086:p.Ser52Leu		135156082	NM_001173517	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108440	0.56291	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.65178	4.33;-0.14;-0.14;2.11	5.57	3.77	0.43336	.	0.355464	0.16246	N	0.222917	T	0.71367	0.3331	L	0.52011	1.625	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72075	0.946;0.976;0.946;0.976	T	0.60515	-0.7248	10	0.59425	D	0.04	-6.8567	9.5859	0.39517	0.0764:0.0:0.7813:0.1423	.	34;52;52;52	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	52;52;34;52	ENSP00000359695:S52L;ENSP00000318086:S52L;ENSP00000359697:S34L;ENSP00000359694:S52L	ENSP00000318086:S52L	S	-	2	0	MAP7D3	135156082	0.635000	0.27199	0.001000	0.08648	0.007000	0.05969	5.812000	0.69194	0.592000	0.29728	0.594000	0.82650	TCG		0.333	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
BRS3	680	broad.mit.edu	37	X	135572547	135572547	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:135572547C>T	ENST00000370648.3	+	2	918	c.690C>T	c.(688-690)ctC>ctT	p.L230L	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	230					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.L230L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTATTCCACTCTCTATTATCT	0.398																																					p.L230L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C690T	X						.						87.0	81.0	83.0					X																	135572547		2203	4300	6503	135400213	SO:0001819	synonymous_variant	680	exon2				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.690C>T	X.37:g.135572547C>T			135400213	NM_001727		Silent	SNP	ENST00000370648.3	37	CCDS14656.1																																																																																				0.398	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727	
CD40LG	959	broad.mit.edu	37	X	135730414	135730414	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:135730414G>A	ENST00000370629.2	+	1	63	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CD40LG_ENST00000370628.2_Missense_Mutation_p.E3K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	3					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.E3K(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CAGCATGATCGAAACATACAA	0.433									Immune Deficiency with Hyper-IgM																												p.E3K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7A	X						.						137.0	124.0	128.0					X																	135730414		2203	4300	6503	135558080	SO:0001583	missense	959	exon1	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.7G>A	X.37:g.135730414G>A	ENSP00000359663:p.Glu3Lys		135558080	NM_000074		Missense_Mutation	SNP	ENST00000370629.2	37	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.154523	0.78114	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.77489	-1.1;-1.1	5.8	5.8	0.92144	.	0.344005	0.31859	N	0.006959	T	0.75287	0.3829	L	0.34521	1.04	0.34421	D	0.697487	D;D	0.69078	0.991;0.997	P;P	0.49752	0.468;0.621	D	0.83885	0.0281	10	0.87932	D	0	0.2024	14.2294	0.65882	0.0:0.0:1.0:0.0	.	3;3	Q3L8U2;P29965	.;CD40L_HUMAN	K	3	ENSP00000359663:E3K;ENSP00000359662:E3K	ENSP00000359662:E3K	E	+	1	0	CD40LG	135558080	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.704000	0.68347	2.434000	0.82447	0.597000	0.82753	GAA		0.433	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074	
CD40LG	959	broad.mit.edu	37	X	135738571	135738571	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:135738571A>G	ENST00000370629.2	+	4	459	c.403A>G	c.(403-405)Aca>Gca	p.T135A	CD40LG_ENST00000370628.2_Intron	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	135					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.T135A(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CAGTAAAACAACATCTGGTAA	0.453									Immune Deficiency with Hyper-IgM																												p.T135A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A403G	X						.						150.0	125.0	134.0					X																	135738571		2203	4300	6503	135566237	SO:0001583	missense	959	exon4	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.403A>G	X.37:g.135738571A>G	ENSP00000359663:p.Thr135Ala		135566237	NM_000074		Missense_Mutation	SNP	ENST00000370629.2	37	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	A	2.989	-0.208538	0.06140	.	.	ENSG00000102245	ENST00000370629	D	0.97791	-4.54	5.56	-1.38	0.09027	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.575341	0.17119	N	0.186307	D	0.88444	0.6438	N	0.04203	-0.255	0.42447	D	0.992735	B	0.02656	0.0	B	0.01281	0.0	T	0.77451	-0.2583	10	0.07030	T	0.85	.	5.373	0.16150	0.4857:0.0:0.3751:0.1392	.	135	P29965	CD40L_HUMAN	A	135	ENSP00000359663:T135A	ENSP00000359663:T135A	T	+	1	0	CD40LG	135566237	0.747000	0.28283	0.914000	0.36105	0.879000	0.50718	-0.386000	0.07370	-0.340000	0.08388	-0.287000	0.09952	ACA		0.453	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074	
ARHGEF6	9459	broad.mit.edu	37	X	135764085	135764085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:135764085C>A	ENST00000250617.6	-	14	2727	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E354*|ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E354*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E381*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	508	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E508*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CCTTCAATTTCATCTAATCTA	0.333																																					p.E508X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1522T	X						.						187.0	160.0	169.0					X																	135764085		2202	4300	6502	135591751	SO:0001587	stop_gained	9459	exon14			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1522G>T	X.37:g.135764085C>A	ENSP00000250617:p.Glu508*		135591751	NM_004840	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Nonsense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	41	8.907271	0.98998	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	.	.	.	5.67	5.67	0.87782	.	0.178332	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7181	0.91684	0.0:1.0:0.0:0.0	.	.	.	.	X	508;354;354;354;381	.	ENSP00000250617:E508X	E	-	1	0	ARHGEF6	135591751	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	6.694000	0.74587	2.365000	0.80145	0.600000	0.82982	GAA		0.333	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
ARHGEF6	9459	broad.mit.edu	37	X	135814276	135814276	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:135814276C>A	ENST00000250617.6	-	6	1922	c.717G>T	c.(715-717)aaG>aaT	p.K239N	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.K85N|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.K85N|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.K112N	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	239					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K239N(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TATAATAATTCTTGGTAAGTG	0.343																																					p.K239N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G717T	X						.						37.0	32.0	34.0					X																	135814276		2203	4300	6503	135641942	SO:0001583	missense	9459	exon6			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.717G>T	X.37:g.135814276C>A	ENSP00000250617:p.Lys239Asn		135641942	NM_004840	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706250	0.68615	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.34	5.34	0.76211	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.46157	1.445	0.58432	D	0.999996	P;D	0.61697	0.726;0.99	P;D	0.64687	0.542;0.928	T	0.01500	-1.1339	10	0.46703	T	0.11	.	14.7463	0.69492	0.0:1.0:0.0:0.0	.	112;239	B7Z3C7;Q15052	.;ARHG6_HUMAN	N	239;85;85;85;112	ENSP00000250617:K239N;ENSP00000359654:K85N;ENSP00000359656:K85N;ENSP00000439483:K112N	ENSP00000250617:K239N	K	-	3	2	ARHGEF6	135641942	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.143000	0.50608	2.229000	0.72834	0.284000	0.19432	AAG		0.343	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
TCEANC	170082	broad.mit.edu	37	X	13681284	13681284	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:13681284A>C	ENST00000380600.1	+	2	744	c.657A>C	c.(655-657)aaA>aaC	p.K219N	TCEANC_ENST00000544987.1_Missense_Mutation_p.K219N|TCEANC_ENST00000545566.1_Missense_Mutation_p.K219N|TCEANC_ENST00000314720.4_Missense_Mutation_p.K249N|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	219	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.K219N(2)		central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						ACATCAAAAAATATAAAACTT	0.373																																					p.K249N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A747C	X						.						32.0	29.0	30.0					X																	13681284		1812	4072	5884	13591205	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.657A>C	X.37:g.13681284A>C	ENSP00000369974:p.Lys219Asn		13591205	NM_152634	A6NI06|B2RDM3	Missense_Mutation	SNP	ENST00000380600.1	37		.	.	.	.	.	.	.	.	.	.	A	17.07	3.295047	0.60086	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.26	2.66	0.31614	Transcription elongation factor S-II, central domain (4);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.85777	2.775	0.44000	D	0.996708	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64622	-0.6364	10	0.52906	T	0.07	.	6.6223	0.22810	0.5931:0.0:0.4068:0.0	.	249;219	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	N	219;219;249;219	ENSP00000438952:K219N;ENSP00000440038:K219N;ENSP00000313886:K249N;ENSP00000369974:K219N	ENSP00000313886:K249N	K	+	3	2	TCEANC	13591205	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	1.551000	0.36233	0.620000	0.30215	0.486000	0.48141	AAA		0.373	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634	
ARHGEF6	9459	broad.mit.edu	37	X	135825807	135825807	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:135825807C>T	ENST00000250617.6	-	5	1803	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.G46S|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.G46S|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.G46S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	200	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G200S(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTTAATGTGCCTTCCCACCAG	0.413																																					p.G200S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598A	X						.						219.0	184.0	196.0					X																	135825807		2203	4300	6503	135653473	SO:0001583	missense	9459	exon5			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.598G>A	X.37:g.135825807C>T	ENSP00000250617:p.Gly200Ser		135653473	NM_004840	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	c	36	5.604009	0.96626	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.83	5.83	0.93111	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.87038	0.6078	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91199	0.4990	10	0.87932	D	0	.	19.0453	0.93018	0.0:1.0:0.0:0.0	.	46;200	B7Z3C7;Q15052	.;ARHG6_HUMAN	S	200;46;46;46;46	ENSP00000250617:G200S;ENSP00000359654:G46S;ENSP00000359656:G46S;ENSP00000439483:G46S	ENSP00000250617:G200S	G	-	1	0	ARHGEF6	135653473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	2.446000	0.82766	0.597000	0.82753	GGC		0.413	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
F9	2158	broad.mit.edu	37	X	138643706	138643706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:138643706G>T	ENST00000218099.2	+	8	869	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	F9_ENST00000394090.2_Nonsense_Mutation_p.E250*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	288	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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.E288*(1)		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)	TGAGGAGACAGAACATACAGA	0.343																																					p.E288X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G862T	X	GRCh37	CD962001|CM030433	F9	D|M		.						120.0	107.0	111.0					X																	138643706		2203	4300	6503	138471372	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.862G>T	X.37:g.138643706G>T	ENSP00000218099:p.Glu288*		138471372	NM_000133	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145439	0.77888	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.42	5.42	0.78866	.	0.220881	0.47852	D	0.000209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1118	0.86678	0.0:0.0:1.0:0.0	.	.	.	.	X	288;250	.	ENSP00000218099:E288X	E	+	1	0	F9	138471372	1.000000	0.71417	0.027000	0.17364	0.186000	0.23388	9.175000	0.94831	2.250000	0.74265	0.544000	0.68410	GAA		0.343	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
ATP11C	286410	broad.mit.edu	37	X	138867415	138867415	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:138867415G>A	ENST00000327569.3	-	16	1743	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C	ATP11C_ENST00000361648.2_Missense_Mutation_p.R549C|ATP11C_ENST00000359686.2_Missense_Mutation_p.R549C|ATP11C_ENST00000370543.1_Missense_Mutation_p.R549C|ATP11C_ENST00000370557.1_Missense_Mutation_p.R546C|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	549					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.R549G(2)|p.R549C(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)					ACACTCATACGTCGCCGGACA	0.343																																					p.R549C												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.C1645T	X						.						108.0	95.0	99.0					X																	138867415		2203	4300	6503	138695081	SO:0001583	missense	286410	exon16			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.1645C>T	X.37:g.138867415G>A	ENSP00000332756:p.Arg549Cys		138695081	NM_001010986	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919645	0.73098	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.77	4.91	0.64330	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89344	0.3656	10	0.87932	D	0	.	12.839	0.57790	0.0798:0.0:0.9202:0.0	.	549;549	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	C	546;549;549;549;549	ENSP00000359588:R546C;ENSP00000355165:R549C;ENSP00000332756:R549C;ENSP00000359574:R549C;ENSP00000352715:R549C	ENSP00000332756:R549C	R	-	1	0	ATP11C	138695081	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	5.900000	0.69853	1.186000	0.42985	0.600000	0.82982	CGT		0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
ATP11C	286410	broad.mit.edu	37	X	138897044	138897044	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:138897044T>C	ENST00000327569.3	-	5	526	c.428A>G	c.(427-429)aAa>aGa	p.K143R	ATP11C_ENST00000361648.2_Missense_Mutation_p.K143R|ATP11C_ENST00000359686.2_Missense_Mutation_p.K143R|ATP11C_ENST00000370543.1_Missense_Mutation_p.K143R|ATP11C_ENST00000370557.1_Missense_Mutation_p.K140R	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	143					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.K143R(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)					TACCTTGATTTTTTCACTTTC	0.308																																					p.K143R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A428G	X						.						81.0	68.0	73.0					X																	138897044		2202	4297	6499	138724710	SO:0001583	missense	286410	exon5			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.428A>G	X.37:g.138897044T>C	ENSP00000332756:p.Lys143Arg		138724710	NM_001010986	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437473	0.43224	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	4.29	3.02	0.34903	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.107042	0.64402	D	0.000007	D	0.87378	0.6162	L	0.60455	1.87	0.35837	D	0.825754	B;B	0.21071	0.041;0.051	B;B	0.29077	0.059;0.098	D	0.86499	0.1802	10	0.42905	T	0.14	.	8.2668	0.31819	0.0:0.0:0.1968:0.8032	.	143;143	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	R	140;143;143;143;143	ENSP00000359588:K140R;ENSP00000355165:K143R;ENSP00000332756:K143R;ENSP00000359574:K143R;ENSP00000352715:K143R	ENSP00000332756:K143R	K	-	2	0	ATP11C	138724710	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.431000	0.52814	1.715000	0.51383	0.393000	0.25936	AAA		0.308	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
CXorf66	347487	broad.mit.edu	37	X	139038785	139038785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:139038785G>T	ENST00000370540.1	-	3	379	c.356C>A	c.(355-357)tCa>tAa	p.S119*		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	119	Ser-rich.					integral component of membrane (GO:0016021)		p.S119*(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGAATCAGATGACTTGTCTGC	0.453																																					p.S119X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C356A	X						.						239.0	196.0	211.0					X																	139038785		2203	4300	6503	138866451	SO:0001587	stop_gained	347487	exon3				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.356C>A	X.37:g.139038785G>T	ENSP00000359571:p.Ser119*		138866451	NM_001013403		Nonsense_Mutation	SNP	ENST00000370540.1	37	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559021	0.27827	.	.	ENSG00000203933	ENST00000370540	.	.	.	3.99	-3.41	0.04839	.	1.868470	0.03425	N	0.206944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0755	9.2486	0.37541	0.4579:0.0:0.5421:0.0	.	.	.	.	X	119	.	.	S	-	2	0	CXorf66	138866451	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.638000	0.05452	-0.745000	0.04772	-0.363000	0.07495	TCA		0.453	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403	
MAGEC1	9947	broad.mit.edu	37	X	140994778	140994778	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:140994778C>A	ENST00000285879.4	+	4	1874	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	530								p.L530I(1)|p.L530V(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)					CCATTCTCCTCTCCAGATTGT	0.527										HNSCC(15;0.026)																											p.L530I												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C1588A	X						.						126.0	133.0	131.0					X																	140994778		2203	4300	6503	140822444	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.1588C>A	X.37:g.140994778C>A	ENSP00000285879:p.Leu530Ile		140822444	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	7.348	0.622234	0.14193	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	.	.	.	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	P	0.37233	0.588	B	0.21708	0.036	T	0.45948	-0.9226	8	0.87932	D	0	.	6.356	0.21402	0.0:0.7473:0.0:0.2527	.	530	O60732	MAGC1_HUMAN	I	530	ENSP00000285879:L530I	ENSP00000285879:L530I	L	+	1	0	MAGEC1	140822444	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.186000	0.01251	-1.436000	0.01970	-1.419000	0.01111	CTC		0.527	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC1	9947	broad.mit.edu	37	X	140995445	140995445	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:140995445C>A	ENST00000285879.4	+	4	2541	c.2255C>A	c.(2254-2256)tCt>tAt	p.S752Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	752								p.S752Y(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)					TCCTCCACTTCTTTGAGTCTT	0.557										HNSCC(15;0.026)																											p.S752Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2255A	X						.						135.0	146.0	142.0					X																	140995445		2203	4300	6503	140823111	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.2255C>A	X.37:g.140995445C>A	ENSP00000285879:p.Ser752Tyr		140823111	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	11.80	1.745658	0.30955	.	.	ENSG00000155495	ENST00000285879	T	0.02656	4.21	1.02	1.02	0.19986	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.58432	D	0.999999	P	0.50156	0.932	P	0.49361	0.608	T	0.61676	-0.7014	9	0.72032	D	0.01	.	7.7924	0.29127	0.0:0.9999:0.0:1.0E-4	.	752	O60732	MAGC1_HUMAN	Y	752	ENSP00000285879:S752Y	ENSP00000285879:S752Y	S	+	2	0	MAGEC1	140823111	0.000000	0.05858	0.026000	0.17262	0.026000	0.11368	0.472000	0.22116	0.280000	0.22209	0.284000	0.19432	TCT		0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																					p.P232S												.	.	0			c.C694T	X						.																																			148576478	SO:0001628	intergenic_variant	4110	exon5																															Unknown.37:g.0G>A			148576478	NM_001011544		Missense_Mutation	SNP		37																																																																																				0	0								
MAMLD1	10046	broad.mit.edu	37	X	149613801	149613801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:149613801C>T	ENST00000370401.2	+	2	329	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.R7W|MAMLD1_ENST00000426613.2_Missense_Mutation_p.R7W|MAMLD1_ENST00000432680.2_Missense_Mutation_p.R7W			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	7					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R7W(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAAAAGTCGGCTTGTAAT	0.498																																					p.R7W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19T	X						.						74.0	71.0	72.0					X																	149613801		1880	4108	5988	149364459	SO:0001583	missense	10046	exon1			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.19C>T	X.37:g.149613801C>T	ENSP00000359428:p.Arg7Trp		149364459	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433921	0.62955	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.71934	-0.36;-0.61;-0.36;-0.17	5.31	3.44	0.39384	.	.	.	.	.	T	0.76183	0.3952	L	0.51422	1.61	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.977;0.987;0.996	T	0.76484	-0.2942	9	0.87932	D	0	-25.7446	6.1367	0.20237	0.1888:0.7062:0.0:0.105	.	7;7;7	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	W	7	ENSP00000359428:R7W;ENSP00000414517:R7W;ENSP00000262858:R7W;ENSP00000397438:R7W	ENSP00000262858:R7W	R	+	1	2	MAMLD1	149364459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.945000	0.29056	2.199000	0.70637	0.513000	0.50165	CGG		0.498	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
MAMLD1	10046	broad.mit.edu	37	X	149638450	149638450	+	Missense_Mutation	SNP	C	C	T	rs146555522	byFrequency	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:149638450C>T	ENST00000370401.2	+	4	915	c.605C>T	c.(604-606)aCg>aTg	p.T202M	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.T202M|MAMLD1_ENST00000426613.2_Missense_Mutation_p.T177M|MAMLD1_ENST00000432680.2_Missense_Mutation_p.T177M			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	202					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T129M(1)|p.T202M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ATACTGGGGACGAAGCCAGAA	0.522													C|||	1	0.000264901	0.0	0.0	3775	,	,		14080	0.0		0.001	False		,,,				2504	0.0				p.T177M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C530T	X						.	C	MET/THR,MET/THR,MET/THR	0,3835		0,0,0,1632,571	156.0	138.0	144.0		530,530,605	1.5	0.9	X	dbSNP_134	144	7,6721		0,4,3,2424,1869	yes	missense,missense,missense	MAMLD1	NM_001177465.1,NM_001177466.1,NM_005491.3	81,81,81	0,4,3,4056,2440	TT,TC,T,CC,C		0.104,0.0,0.0663	probably-damaging,probably-damaging,probably-damaging	177/999,177/750,202/775	149638450	7,10556	2203	4300	6503	149389108	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.605C>T	X.37:g.149638450C>T	ENSP00000359428:p.Thr202Met		149389108	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.70	2.314586	0.40996	0.0	0.00104	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.64085	0.32;-0.08;0.32;0.33	5.36	1.51	0.23008	.	0.416080	0.27866	N	0.017532	T	0.57213	0.2038	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.65815	0.989;0.992;0.986;0.995	P;P;P;P	0.56916	0.674;0.809;0.481;0.809	T	0.49244	-0.8960	9	.	.	.	-1.8716	10.6589	0.45690	0.071:0.3739:0.5551:0.0	.	164;177;177;202	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	M	164;202;177;202;177	ENSP00000359428:T202M;ENSP00000414517:T177M;ENSP00000262858:T202M;ENSP00000397438:T177M	.	T	+	2	0	MAMLD1	149389108	1.000000	0.71417	0.928000	0.36995	0.476000	0.33039	1.487000	0.35540	-0.119000	0.11830	-1.045000	0.02358	ACG		0.522	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
MAMLD1	10046	broad.mit.edu	37	X	149638972	149638972	+	Missense_Mutation	SNP	C	C	T	rs377084992		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:149638972C>T	ENST00000370401.2	+	4	1437	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.S376L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.S351L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S351L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	376					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S303L(1)|p.S376L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATACCTTGTCGGGTAGCACT	0.617																																					p.S351L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1052T	X						.	C	LEU/SER,LEU/SER,LEU/SER	0,3835		0,0,1632,571	108.0	99.0	102.0		1052,1052,1127	4.9	0.0	X		102	1,6727		0,1,2427,1872	no	missense,missense,missense	MAMLD1	NM_001177465.1,NM_001177466.1,NM_005491.3	145,145,145	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign,benign	351/999,351/750,376/775	149638972	1,10562	2203	4300	6503	149389630	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.1127C>T	X.37:g.149638972C>T	ENSP00000359428:p.Ser376Leu		149389630	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	7.102	0.574309	0.13623	0.0	1.49E-4	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.9	4.9	0.64082	.	0.376195	0.25555	N	0.029876	T	0.47377	0.1442	N	0.22421	0.69	0.25898	N	0.983384	P;P;P;P	0.48230	0.642;0.487;0.759;0.907	B;B;B;B	0.36504	0.113;0.165;0.165;0.226	T	0.44907	-0.9297	9	.	.	.	-2.1605	11.4676	0.50248	0.1794:0.8205:0.0:0.0	.	338;351;351;376	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	338;376;351;376;351	ENSP00000359428:S376L;ENSP00000414517:S351L;ENSP00000262858:S376L;ENSP00000397438:S351L	.	S	+	2	0	MAMLD1	149389630	0.155000	0.22806	0.002000	0.10522	0.005000	0.04900	0.754000	0.26390	2.023000	0.59567	0.600000	0.82982	TCG		0.617	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
PASD1	139135	broad.mit.edu	37	X	150840105	150840105	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:150840105C>T	ENST00000370357.4	+	13	1536	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	431						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.P431S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCAGTGCCCAAGAAACA	0.478																																					p.P431S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1291T	X						.						179.0	141.0	154.0					X																	150840105		2203	4300	6503	150590761	SO:0001583	missense	139135	exon13			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1291C>T	X.37:g.150840105C>T	ENSP00000359382:p.Pro431Ser		150590761	NM_173493	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612680	0.28712	.	.	ENSG00000166049	ENST00000370357	T	0.16597	2.33	3.64	-0.941	0.10402	.	.	.	.	.	T	0.09024	0.0223	N	0.24115	0.695	0.09310	N	1	P	0.35745	0.518	B	0.33392	0.163	T	0.24154	-1.0168	9	0.66056	D	0.02	-5.3723	2.9549	0.05874	0.2008:0.4174:0.0:0.3818	.	431	Q8IV76	PASD1_HUMAN	S	431	ENSP00000359382:P431S	ENSP00000359382:P431S	P	+	1	0	PASD1	150590761	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.703000	0.05063	-0.301000	0.08882	0.529000	0.55759	CCC		0.478	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
FATE1	89885	broad.mit.edu	37	X	150889903	150889903	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:150889903T>G	ENST00000370350.3	+	3	356	c.271T>G	c.(271-273)Tca>Gca	p.S91A		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	91						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S91A(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAGAGAATCAGGCCATGG	0.542																																					p.S91A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T271G	X						.						96.0	81.0	86.0					X																	150889903		2203	4300	6503	150640559	SO:0001583	missense	89885	exon3			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.271T>G	X.37:g.150889903T>G	ENSP00000359375:p.Ser91Ala		150640559	NM_033085		Missense_Mutation	SNP	ENST00000370350.3	37	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	T	1.743	-0.491233	0.04322	.	.	ENSG00000147378	ENST00000370350	T	0.43688	0.94	3.8	-3.23	0.05109	.	2.389700	0.01559	N	0.020033	T	0.19366	0.0465	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.07462	-1.0771	10	0.08837	T	0.75	8.2913	0.1639	0.00106	0.2996:0.2359:0.1462:0.3182	.	91	Q969F0	FATE1_HUMAN	A	91	ENSP00000359375:S91A	ENSP00000359375:S91A	S	+	1	0	FATE1	150640559	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.959000	0.03853	-0.960000	0.03613	-0.509000	0.04479	TCA		0.542	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085	
GABRQ	55879	broad.mit.edu	37	X	151818999	151818999	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:151818999C>T	ENST00000370306.2	+	7	877	c.857C>T	c.(856-858)tCg>tTg	p.S286L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	286					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.S286L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTTGGATATCGTTTTGGATG	0.453																																					p.S286L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C857T	X						.						359.0	303.0	322.0					X																	151818999		2203	4300	6503	151569655	SO:0001583	missense	55879	exon7			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.857C>T	X.37:g.151818999C>T	ENSP00000359329:p.Ser286Leu		151569655	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159148	0.78226	.	.	ENSG00000147402	ENST00000370306	D	0.87887	-2.31	6.08	6.08	0.98989	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.163737	0.29572	N	0.011766	D	0.94565	0.8249	M	0.91561	3.22	0.51012	D	0.999907	D	0.89917	1.0	D	0.65010	0.931	D	0.95353	0.8448	10	0.87932	D	0	.	16.7366	0.85448	0.0:1.0:0.0:0.0	.	286	Q9UN88	GBRT_HUMAN	L	286	ENSP00000359329:S286L	ENSP00000359329:S286L	S	+	2	0	GABRQ	151569655	1.000000	0.71417	0.341000	0.25589	0.302000	0.27658	7.798000	0.85924	2.562000	0.86427	0.600000	0.82982	TCG		0.453	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
MAGEA6	4105	broad.mit.edu	37	X	151870203	151870203	+	Missense_Mutation	SNP	G	G	A	rs145904765		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:151870203G>A	ENST00000329342.5	+	3	1118	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	298	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R298H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACCTCGCATTTCCTAC	0.557													a|||	2	0.000529801	0.0	0.0	3775	,	,		14636	0.002		0.0	False		,,,				2504	0.0				p.R298H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G893A	X						.	C	HIS/ARG,HIS/ARG	1,3833		0,1,0,1631,570	136.0	131.0	133.0		893,893	-1.8	0.0	X	dbSNP_134	133	2,6724		0,1,1,2427,1869	no	missense,missense	MAGEA6	NM_005363.2,NM_175868.1	29,29	0,2,1,4058,2439	AA,AG,A,GG,G		0.0297,0.0261,0.0284	benign,benign	298/315,298/315	151870203	3,10557	2202	4298	6500	151620859	SO:0001583	missense	4105	exon3				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.893G>A	X.37:g.151870203G>A	ENSP00000329199:p.Arg298His		151620859	NM_005363	A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	0.038	-1.298062	0.01364	2.61E-4	2.97E-4	ENSG00000197172	ENST00000329342	T	0.01685	4.69	0.879	-1.76	0.08006	.	.	.	.	.	T	0.01189	0.0039	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45381	-0.9265	9	0.37606	T	0.19	.	3.5744	0.07929	0.2904:0.4944:0.2152:0.0	.	298	P43360	MAGA6_HUMAN	H	298	ENSP00000329199:R298H	ENSP00000329199:R298H	R	+	2	0	MAGEA6	151620859	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.559000	0.02162	-2.833000	0.00338	-2.646000	0.00150	CGC		0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363	
MAGEA12	4111	broad.mit.edu	37	X	151900443	151900443	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:151900443G>T	ENST00000357916.4	-	2	513	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.L120M|MAGEA12_ENST00000393869.3_Missense_Mutation_p.L120M|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370291.2_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	120	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L120M(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGAGCAGAAAATGAACC	0.498																																					p.L120M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C358A	X						.						153.0	132.0	139.0					X																	151900443		2203	4300	6503	151651099	SO:0001583	missense	4111	exon2				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.358C>A	X.37:g.151900443G>T	ENSP00000350592:p.Leu120Met		151651099	NM_005367	Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060898	0.19987	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.06768	3.26;3.26;3.26	1.1	1.1	0.20463	.	0.152719	0.44902	D	0.000412	T	0.18467	0.0443	M	0.76574	2.34	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.03717	-1.1010	10	0.32370	T	0.25	.	5.1828	0.15169	0.0:0.0:1.0:0.0	.	120	P43365	MAGAC_HUMAN	M	120	ENSP00000350592:L120M;ENSP00000377447:L120M;ENSP00000377478:L120M	ENSP00000350592:L120M	L	-	1	2	MAGEA12	151651099	0.362000	0.24980	0.014000	0.15608	0.060000	0.15804	1.641000	0.37197	0.828000	0.34709	0.171000	0.16805	CTG		0.498	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
ASB9	140462	broad.mit.edu	37	X	15268633	15268633	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:15268633T>C	ENST00000380488.4	-	5	760	c.487A>G	c.(487-489)Aag>Gag	p.K163E	ASB9_ENST00000380485.3_Missense_Mutation_p.K163E|ASB9_ENST00000546332.1_Missense_Mutation_p.K163E|ASB9_ENST00000380483.3_Missense_Mutation_p.K153E|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	163					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.K163E(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TGGCTGATCTTATGGTCAATG	0.468																																					p.K163E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A487G	X						.						100.0	92.0	94.0					X																	15268633		2203	4300	6503	15178554	SO:0001583	missense	140462	exon6			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.487A>G	X.37:g.15268633T>C	ENSP00000369855:p.Lys163Glu		15178554	NM_001168531	A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	T	4.939	0.174539	0.09391	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.67345	0.49;-0.26;-0.26;-0.26	5.79	2.02	0.26589	Ankyrin repeat-containing domain (4);	0.564497	0.20682	N	0.087626	T	0.40196	0.1107	N	0.16266	0.395	0.09310	N	1	B;B;B;B	0.19331	0.035;0.0;0.0;0.001	B;B;B;B	0.21708	0.036;0.003;0.001;0.002	T	0.25676	-1.0125	10	0.06236	T	0.91	-5.6354	4.8184	0.13378	0.0:0.1522:0.3094:0.5384	.	134;153;163;163	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	E	153;163;163;163	ENSP00000369850:K153E;ENSP00000369852:K163E;ENSP00000369855:K163E;ENSP00000438943:K163E	ENSP00000369850:K153E	K	-	1	0	ASB9	15178554	0.040000	0.19996	0.000000	0.03702	0.450000	0.32258	0.144000	0.16135	0.271000	0.22005	0.430000	0.28490	AAG		0.468	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1		
NSDHL	50814	broad.mit.edu	37	X	152031184	152031184	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:152031184C>T	ENST00000370274.3	+	5	653	c.459C>T	c.(457-459)gtC>gtT	p.V153V	NSDHL_ENST00000440023.1_Silent_p.V153V	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	153					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.V153V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGCGTCGATATCAAGA	0.408																																					p.V153V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	X						.						164.0	142.0	149.0					X																	152031184		2203	4300	6503	151781840	SO:0001819	synonymous_variant	50814	exon6			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.459C>T	X.37:g.152031184C>T			151781840	NM_001129765	D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	CCDS14717.1																																																																																				0.408	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922	
ZNF185	7739	broad.mit.edu	37	X	152089273	152089273	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:152089273G>A	ENST00000370268.4	+	9	671	c.634G>A	c.(634-636)Gca>Aca	p.A212T	ZNF185_ENST00000449285.2_Missense_Mutation_p.A213T|ZNF185_ENST00000318504.7_Missense_Mutation_p.A212T|ZNF185_ENST00000535861.1_Missense_Mutation_p.A212T|ZNF185_ENST00000539731.1_Missense_Mutation_p.A212T|ZNF185_ENST00000324823.6_Missense_Mutation_p.A78T|ZNF185_ENST00000370270.2_Missense_Mutation_p.A212T|ZNF185_ENST00000318529.8_Missense_Mutation_p.A50T			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	212						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.A73T(1)|p.A212T(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGACACAGGCACCGTTTAT	0.577																																					p.A212T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G634A	X						.						111.0	103.0	105.0					X																	152089273		2060	4173	6233	151839929	SO:0001583	missense	7739	exon9			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.634G>A	X.37:g.152089273G>A	ENSP00000359291:p.Ala212Thr		151839929	NM_007150	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.05|12.05	1.822848|1.822848	0.32237|0.32237	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270|ENST00000426821;ENST00000447088;ENST00000447792	T;T;T;T;T|.	0.52983|.	0.66;0.73;0.76;0.7;0.64|.	5.38|5.38	2.39|2.39	0.29439|0.29439	.|.	0.268715|.	0.26563|.	N|.	0.023661|.	T|T	0.38401|0.38401	0.1039|0.1039	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D;D|.	0.71674|.	0.991;0.991;0.965;0.991;0.984;0.981;0.998|.	P;P;P;P;P;P;D|.	0.72625|.	0.757;0.757;0.719;0.757;0.757;0.667;0.978|.	T|T	0.23619|0.23619	-1.0183|-1.0183	10|5	0.49607|.	T|.	0.09|.	-12.131|-12.131	6.314|6.314	0.21180|0.21180	0.0:0.1714:0.451:0.3776|0.0:0.1714:0.451:0.3776	.|.	213;212;212;212;212;212;50|.	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;F8W8V7|.	.;.;.;.;.;ZN185_HUMAN;.|.	T|D	212;212;213;212;77;78;78;212;50;73|56;29;8	ENSP00000440847:A212T;ENSP00000444367:A212T;ENSP00000395228:A213T;ENSP00000312782:A212T;ENSP00000359291:A212T|.	ENSP00000312782:A212T|.	A|G	+|+	1|2	0|0	ZNF185|ZNF185	151839929|151839929	0.501000|0.501000	0.26099|0.26099	0.128000|0.128000	0.21923|0.21923	0.057000|0.057000	0.15508|0.15508	0.786000|0.786000	0.26844|0.26844	1.129000|1.129000	0.42072|0.42072	0.523000|0.523000	0.50628|0.50628	GCA|GGC		0.577	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	
PNMA3	29944	broad.mit.edu	37	X	152226174	152226174	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:152226174T>G	ENST00000370264.4	+	1	788	c.762T>G	c.(760-762)tgT>tgG	p.C254W	PNMA3_ENST00000447306.1_Missense_Mutation_p.C254W|PNMA3_ENST00000370265.4_Missense_Mutation_p.C254W			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	254					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C254W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgaagttgtgtaaagcctatc	0.498																																					p.C254W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T762G	X						.						159.0	154.0	156.0					X																	152226174		2203	4300	6503	151976830	SO:0001583	missense	29944	exon2			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.762T>G	X.37:g.152226174T>G	ENSP00000359286:p.Cys254Trp		151976830	NM_013364	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	t	9.119	1.008543	0.19199	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.09630	2.96;2.96;2.96	1.98	-3.96	0.04106	.	.	.	.	.	T	0.14743	0.0356	L	0.36672	1.1	0.09310	N	0.999998	D	0.76494	0.999	D	0.69142	0.962	T	0.08046	-1.0741	9	0.56958	D	0.05	.	1.9088	0.03283	0.1763:0.4448:0.1763:0.2027	.	254	Q9UL41	PNMA3_HUMAN	W	254	ENSP00000359288:C254W;ENSP00000407642:C254W;ENSP00000359286:C254W	ENSP00000359286:C254W	C	+	3	2	PNMA3	151976830	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.170000	0.01268	-2.059000	0.00894	-0.676000	0.03789	TGT		0.498	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364	
FAM58A	92002	broad.mit.edu	37	X	152861535	152861535	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:152861535A>G	ENST00000406277.2	-	4	319	c.217T>C	c.(217-219)Tct>Cct	p.S73P	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	75					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)			p.S41P(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAAATTGAAGACATGGCAATC	0.507																																					p.V74A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T221C	X						.						175.0	150.0	158.0					X																	152861535		2203	4300	6503	152514729	SO:0001583	missense	92002	exon2			BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.217T>C	X.37:g.152861535A>G	ENSP00000384396:p.Ser73Pro		152514729	NM_001130997	Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37		.	.	.	.	.	.	.	.	.	.	A	16.87	3.242592	0.58995	.	.	ENSG00000147382	ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173;ENST00000428722	T	0.47177	0.85	4.8	2.22	0.28083	Cyclin, N-terminal (1);Cyclin-like (3);	0.241088	0.41823	D	0.000816	T	0.63058	0.2479	M	0.86343	2.81	0.40644	D	0.981975	D;D	0.61080	0.984;0.989	P;P	0.60345	0.738;0.873	T	0.61392	-0.7072	10	0.54805	T	0.06	-7.5078	5.8121	0.18471	0.5302:0.3022:0.0:0.1677	.	75;75	Q8N1B3-2;Q8N1B3	.;FA58A_HUMAN	P	41;73;41;73;73;41	ENSP00000384396:S73P	ENSP00000276345:S73P	S	-	1	0	FAM58A	152514729	1.000000	0.71417	0.980000	0.43619	0.884000	0.51177	1.959000	0.40412	0.108000	0.17862	0.412000	0.27726	TCT		0.507	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152274	
PNCK	139728	broad.mit.edu	37	X	152937072	152937072	+	Missense_Mutation	SNP	T	T	G	rs201553565		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:152937072T>G	ENST00000370150.1	-	6	648	c.470A>C	c.(469-471)gAc>gCc	p.D157A	PNCK_ENST00000340888.3_Missense_Mutation_p.D157A|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000393831.2_Missense_Mutation_p.D157A|PNCK_ENST00000370145.4_Missense_Mutation_p.D174A|PNCK_ENST00000447676.2_Missense_Mutation_p.D240A|PNCK_ENST00000370142.1_Missense_Mutation_p.D157A			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.D157A(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCAAAGTCAGAGACCAT	0.587																																					p.D240A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A719C	X						.						136.0	123.0	128.0					X																	152937072		2203	4300	6503	152590266	SO:0001583	missense	139728	exon6			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.470A>C	X.37:g.152937072T>G	ENSP00000359169:p.Asp157Ala		152590266	NM_001039582	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37		.	.	.	.	.	.	.	.	.	.	t	23.2	4.390360	0.82902	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	D;D;D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	4.91	4.91	0.64330	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	0.000017	D	0.97885	0.9305	H	0.97983	4.12	0.58432	D	0.999999	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;1.0	D	0.98635	1.0673	10	0.87932	D	0	-31.2515	12.5945	0.56461	0.0:0.0:0.0:1.0	.	184;240;174;157	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	A	157;157;157;157;174;240;157;157	ENSP00000340586:D157A;ENSP00000359169:D157A;ENSP00000377417:D157A;ENSP00000359161:D157A;ENSP00000359164:D174A;ENSP00000405950:D240A;ENSP00000415770:D157A;ENSP00000391772:D157A	ENSP00000340586:D157A	D	-	2	0	PNCK	152590266	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.815000	0.86186	1.610000	0.50200	0.430000	0.28490	GAC		0.587	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452	
BCAP31	10134	broad.mit.edu	37	X	152981107	152981107	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:152981107C>T	ENST00000345046.6	-	4	638	c.231G>A	c.(229-231)acG>acA	p.T77T	BCAP31_ENST00000458587.2_Silent_p.T144T|BCAP31_ENST00000441714.1_Silent_p.T77T|BCAP31_ENST00000468947.1_5'UTR	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	77					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)		p.T77T(2)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTTTTCCGTCACATCAT	0.527																																					p.T144T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.G432A	X						.						190.0	145.0	160.0					X																	152981107		2203	4300	6503	152634301	SO:0001819	synonymous_variant	10134	exon4			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.231G>A	X.37:g.152981107C>T			152634301	NM_001139457	B3KQ79|D3DWV5|Q13836|Q96CF0	Silent	SNP	ENST00000345046.6	37	CCDS14727.1																																																																																				0.527	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745	
IDH3G	3421	broad.mit.edu	37	X	153053531	153053531	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:153053531G>A	ENST00000217901.5	-	6	602	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	IDH3G_ENST00000370093.1_Splice_Site_p.R136C|IDH3G_ENST00000427365.2_Splice_Site_p.R78C|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370092.3_Splice_Site_p.R136C	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	136					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R136C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGATCTCACCGAAGGATGTTG	0.587																																					p.R136C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C406T	X						.						225.0	203.0	210.0					X																	153053531		2203	4300	6503	152706725	SO:0001630	splice_region_variant	3421	exon6				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.407+1C>T	X.37:g.153053531G>A			152706725	NM_004135	E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915014	0.92178	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.79554	-0.97;-0.97;-0.97;-0.97;-0.97;-1.28	5.35	5.35	0.76521	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95203	0.8318	10	0.87932	D	0	.	17.0177	0.86424	0.0:0.0:1.0:0.0	.	136;136	E9PDD5;P51553	.;IDH3G_HUMAN	C	136;136;136;78;32;113;76	ENSP00000359110:R136C;ENSP00000217901:R136C;ENSP00000359111:R136C;ENSP00000408529:R78C;ENSP00000401862:R113C;ENSP00000402747:R76C	ENSP00000217901:R136C	R	-	1	0	IDH3G	152706725	1.000000	0.71417	0.993000	0.49108	0.832000	0.47134	6.450000	0.73477	2.370000	0.80446	0.468000	0.43344	CGC		0.587	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27		Missense_Mutation
AVPR2	554	broad.mit.edu	37	X	153171657	153171657	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:153171657C>A	ENST00000358927.2	+	3	906	c.697C>A	c.(697-699)Cat>Aat	p.H233N	AVPR2_ENST00000337474.5_Missense_Mutation_p.H233N|AVPR2_ENST00000370049.1_Missense_Mutation_p.H233N			P30518	V2R_HUMAN	arginine vasopressin receptor 2	233					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.H233N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCGGGAGATTCATGCCAGTCT	0.672																																					p.H233N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C697A	X						.						65.0	63.0	64.0					X																	153171657		2203	4300	6503	152824851	SO:0001583	missense	554	exon2			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.697C>A	X.37:g.153171657C>A	ENSP00000351805:p.His233Asn		152824851	NM_000054	C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	c	7.074	0.568955	0.13560	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.428799	0.25291	N	0.031733	T	0.35653	0.0939	L	0.46741	1.465	0.44194	D	0.997019	B;P	0.37548	0.291;0.599	B;B	0.40982	0.234;0.345	T	0.12066	-1.0562	10	0.27785	T	0.31	-15.3638	14.7766	0.69736	0.0:1.0:0.0:0.0	.	233;233	P30518-2;P30518	.;V2R_HUMAN	N	233	ENSP00000351805:H233N;ENSP00000393513:H233N;ENSP00000338072:H233N;ENSP00000359066:H233N	ENSP00000338072:H233N	H	+	1	0	AVPR2	152824851	0.591000	0.26824	0.821000	0.32701	0.066000	0.16364	0.914000	0.28624	1.802000	0.52723	0.263000	0.19301	CAT		0.672	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2		
OPN1LW	5956	broad.mit.edu	37	X	153418414	153418414	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:153418414G>A	ENST00000369951.4	+	3	471	c.411G>A	c.(409-411)ggG>ggA	p.G137G	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	137					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.G137G(1)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCCATAGGGATCACAGGTC	0.547																																					p.G137G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G411A	X						.						91.0	71.0	78.0					X																	153418414		2107	3789	5896	153071608	SO:0001630	splice_region_variant	5956	exon3			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.410-1G>A	X.37:g.153418414G>A			153071608	NM_020061		Silent	SNP	ENST00000369951.4	37	CCDS14742.1																																																																																				0.547	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061	Silent
TKTL1	8277	broad.mit.edu	37	X	153539197	153539197	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:153539197T>G	ENST00000369915.3	+	4	550	c.361T>G	c.(361-363)Ttc>Gtc	p.F121V	TKTL1_ENST00000369912.2_Missense_Mutation_p.F65V|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	121					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.F121V(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)					CTACCGGGTGTTCTGCCTCAT	0.522																																					p.F115V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T343G	X						.						124.0	97.0	106.0					X																	153539197		2203	4300	6503	153192391	SO:0001583	missense	8277	exon4			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.361T>G	X.37:g.153539197T>G	ENSP00000358931:p.Phe121Val		153192391	NM_001145933	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.185783|4.185783	0.78789|0.78789	.|.	.|.	ENSG00000007350|ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912|ENST00000426203	T;T;T|T	0.34072|0.31510	1.38;1.38;1.38|1.49	4.28|4.28	4.28|4.28	0.50868|0.50868	Transketolase, N-terminal (1);|.	0.119276|.	0.64402|.	D|.	0.000016|.	T|T	0.46946|0.46946	0.1419|0.1419	M|M	0.71296|0.71296	2.17|2.17	0.80722|0.80722	D|D	1|1	D;D|.	0.53619|.	0.961;0.961|.	P;P|.	0.61477|.	0.889;0.889|.	T|T	0.50792|0.50792	-0.8786|-0.8786	10|7	0.72032|0.87932	D|D	0.01|0	-18.4077|-18.4077	11.7698|11.7698	0.51951|0.51951	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	115;121|.	B7Z7I0;P51854|.	.;TKTL1_HUMAN|.	V|G	121;65;121;65|103	ENSP00000358931:F121V;ENSP00000401111:F121V;ENSP00000358928:F65V|ENSP00000416552:V103G	ENSP00000358928:F65V|ENSP00000416552:V103G	F|V	+|+	1|2	0|0	TKTL1|TKTL1	153192391|153192391	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	7.549000|7.549000	0.82163|0.82163	1.688000|1.688000	0.51068|0.51068	0.425000|0.425000	0.28330|0.28330	TTC|GTT		0.522	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253	
GAB3	139716	broad.mit.edu	37	X	153924241	153924241	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:153924241A>C	ENST00000369575.3	-	8	1509	c.1478T>G	c.(1477-1479)tTt>tGt	p.F493C	GAB3_ENST00000424127.2_Missense_Mutation_p.F494C|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	493					macrophage differentiation (GO:0030225)			p.F493C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)					ATTAGCAAAAAATCTTGCAGA	0.368																																					p.F494C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1481G	X						.						80.0	69.0	73.0					X																	153924241		2203	4300	6503	153577435	SO:0001583	missense	139716	exon8			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1478T>G	X.37:g.153924241A>C	ENSP00000358588:p.Phe493Cys		153577435	NM_001081573	A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301571	0.40694	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.19394	2.15;2.15;2.15	5.44	2.97	0.34412	.	0.635971	0.15120	N	0.279450	T	0.17450	0.0419	L	0.51422	1.61	0.22819	N	0.998697	P;P;P	0.44877	0.845;0.845;0.845	B;B;B	0.39971	0.315;0.174;0.315	T	0.10753	-1.0616	10	0.36615	T	0.2	-24.1345	5.5588	0.17131	0.7579:0.0:0.0884:0.1538	.	494;494;493	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	C	493;494;494	ENSP00000358588:F493C;ENSP00000358581:F494C;ENSP00000399588:F494C	ENSP00000358581:F494C	F	-	2	0	GAB3	153577435	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.516000	0.35856	0.688000	0.31529	0.417000	0.27973	TTT		0.368	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573	
F8	2157	broad.mit.edu	37	X	154132582	154132582	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:154132582T>C	ENST00000360256.4	-	17	6004	c.5804A>G	c.(5803-5805)tAt>tGt	p.Y1935C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1935	F5/8 type A 3.|Plastocyanin-like 6.				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.Y1935C(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)	ATGGAAGCGATAATTCTCTTT	0.388																																					p.Y1935C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5804G	X						.						179.0	180.0	180.0					X																	154132582		2203	4300	6503	153785776	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.5804A>G	X.37:g.154132582T>C	ENSP00000353393:p.Tyr1935Cys		153785776	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529476	0.27387	.	.	ENSG00000185010	ENST00000360256	D	0.98221	-4.8	4.23	1.73	0.24493	Cupredoxin (2);	0.343408	0.33199	N	0.005173	D	0.96747	0.8938	L	0.38175	1.15	0.09310	N	1	D;D	0.62365	0.977;0.991	P;P	0.60682	0.691;0.878	D	0.91489	0.5210	10	0.44086	T	0.13	-4.568	3.7066	0.08403	0.3382:0.099:0.0:0.5628	.	63;1935	Q2VF45;P00451	.;FA8_HUMAN	C	1935	ENSP00000353393:Y1935C	ENSP00000353393:Y1935C	Y	-	2	0	F8	153785776	0.996000	0.38824	0.501000	0.27601	0.976000	0.68499	1.008000	0.29872	0.127000	0.18452	0.388000	0.25769	TAT		0.388	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154213006	154213006	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:154213006G>T	ENST00000360256.4	-	6	943	c.743C>A	c.(742-744)cCt>cAt	p.P248H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	248	F5/8 type A 1.|Plastocyanin-like 2.				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.P248H(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)	GTGCATTTTAGGCCAGGCCCG	0.473																																					p.P248H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C743A	X						.						176.0	135.0	149.0					X																	154213006		2203	4300	6503	153866200	SO:0001583	missense	2157	exon6			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.743C>A	X.37:g.154213006G>T	ENSP00000353393:p.Pro248His		153866200	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547565	0.45383	.	.	ENSG00000185010	ENST00000360256;ENST00000423959	D;D	0.99751	-6.63;-5.15	4.16	2.26	0.28386	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.372362	0.28088	N	0.016657	D	0.98523	0.9507	L	0.28115	0.83	0.09310	N	1	B	0.29481	0.245	B	0.35039	0.194	D	0.99716	1.1008	10	0.49607	T	0.09	-2.5346	8.4783	0.33027	0.0:0.0:0.5501:0.4499	.	248	P00451	FA8_HUMAN	H	248;213	ENSP00000353393:P248H;ENSP00000409446:P213H	ENSP00000353393:P248H	P	-	2	0	F8	153866200	0.538000	0.26394	0.107000	0.21349	0.953000	0.61014	0.930000	0.28858	0.069000	0.16605	0.594000	0.82650	CCT		0.473	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154225369	154225369	+	Splice_Site	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:154225369A>G	ENST00000360256.4	-	3	467	c.267T>C	c.(265-267)ggT>ggC	p.G89G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	89	F5/8 type A 1.|Plastocyanin-like 1.		G -> D (in HEMA; severe). {ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:8644728}.|G -> V (in HEMA; mild). {ECO:0000269|PubMed:1301932}.		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.G89G(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)	GACCTAGCAGACCTGTAAGAA	0.448																																					p.G89G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T267C	X						.						201.0	167.0	179.0					X																	154225369		2203	4300	6503	153878563	SO:0001630	splice_region_variant	2157	exon3			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.266-1T>C	X.37:g.154225369A>G			153878563	NM_000132	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Silent
MXRA5	25878	broad.mit.edu	37	X	3235845	3235845	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:3235845G>A	ENST00000217939.6	-	6	6031	c.5877C>T	c.(5875-5877)gaC>gaT	p.D1959D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1959	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)		p.D1959D(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)				AGACAGTGACGTCCTGGTAGT	0.582																																					p.D1959D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5877T	X						.						117.0	89.0	99.0					X																	3235845		2203	4300	6503	3245845	SO:0001819	synonymous_variant	25878	exon6			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.5877C>T	X.37:g.3235845G>A			3245845	NM_015419	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.582	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
PRKX	5613	broad.mit.edu	37	X	3533927	3533927	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:3533927C>T	ENST00000262848.5	-	7	1234	c.880G>A	c.(880-882)Gcg>Acg	p.A294T	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.A294T(1)		kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ACATCATTCGCCCCGTTCTTC	0.438																																					p.A294T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880A	X						.						115.0	76.0	89.0					X																	3533927		2202	4300	6502	3543927	SO:0001583	missense	5613	exon7				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.880G>A	X.37:g.3533927C>T	ENSP00000262848:p.Ala294Thr		3543927	NM_005044		Missense_Mutation	SNP	ENST00000262848.5	37	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277833	0.40294	.	.	ENSG00000183943	ENST00000262848	T	0.69926	-0.44	3.69	3.69	0.42338	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056822	0.64402	D	0.000001	T	0.73281	0.3567	M	0.68317	2.08	0.80722	D	1	P	0.49358	0.923	P	0.54100	0.742	T	0.73458	-0.3976	10	0.35671	T	0.21	-13.8201	13.6885	0.62531	0.0:1.0:0.0:0.0	.	294	P51817	PRKX_HUMAN	T	294	ENSP00000262848:A294T	ENSP00000262848:A294T	A	-	1	0	PRKX	3543927	1.000000	0.71417	0.046000	0.18839	0.028000	0.11728	5.714000	0.68422	1.479000	0.48272	0.589000	0.80489	GCG		0.438	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044	
NLGN4X	57502	broad.mit.edu	37	X	5811130	5811130	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:5811130C>T	ENST00000381095.3	-	6	2806	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	NLGN4X_ENST00000538097.1_Missense_Mutation_p.E727K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E747K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.E727K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.E727K	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	727					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.E727*(1)|p.E727K(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGATCTCTTCGTTCTGGATG	0.552																																					p.E727K												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(2)	c.G2179A	X						.						156.0	116.0	130.0					X																	5811130		2203	4300	6503	5821130	SO:0001583	missense	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.2179G>A	X.37:g.5811130C>T	ENSP00000370485:p.Glu727Lys		5821130	NM_020742	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255343	0.39896	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	3.82	3.82	0.43975	.	0.489617	0.15194	N	0.275364	T	0.34687	0.0906	M	0.77313	2.365	0.51482	D	0.999922	D;P;D	0.61080	0.989;0.752;0.967	P;B;P	0.52856	0.711;0.229;0.703	T	0.34354	-0.9832	10	0.66056	D	0.02	.	14.222	0.65833	0.0:1.0:0.0:0.0	.	784;727;747	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	K	727;747;727;727;727	ENSP00000370485:E727K;ENSP00000370483:E747K;ENSP00000275857:E727K;ENSP00000370482:E727K;ENSP00000439203:E727K	ENSP00000275857:E727K	E	-	1	0	NLGN4X	5821130	1.000000	0.71417	0.906000	0.35671	0.071000	0.16799	6.528000	0.73807	1.508000	0.48769	0.513000	0.50165	GAA		0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
NLGN4X	57502	broad.mit.edu	37	X	5811293	5811293	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:5811293G>A	ENST00000381095.3	-	6	2643	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NLGN4X_ENST00000538097.1_Silent_p.S672S|NLGN4X_ENST00000381093.2_Silent_p.S692S|NLGN4X_ENST00000381092.1_Silent_p.S672S|NLGN4X_ENST00000275857.6_Silent_p.S672S	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	672					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.S672S(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTAATTCGGTGGAATAATCTC	0.502																																					p.S672S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2016T	X						.						135.0	128.0	130.0					X																	5811293		2203	4298	6501	5821293	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.2016C>T	X.37:g.5811293G>A			5821293	NM_020742	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1																																																																																				0.502	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	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_ENST00000381093.2_Silent_p.T605T|NLGN4X_ENST00000381092.1_Silent_p.T585T|NLGN4X_ENST00000275857.6_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	
NLGN4X	57502	broad.mit.edu	37	X	6069178	6069178	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:6069178G>A	ENST00000381095.3	-	2	957	c.330C>T	c.(328-330)tgC>tgT	p.C110C	NLGN4X_ENST00000538097.1_Silent_p.C110C|NLGN4X_ENST00000381093.2_Silent_p.C110C|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Silent_p.C110C|NLGN4X_ENST00000275857.6_Silent_p.C110C	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	110					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.C110C(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGTGCTGGGGGCACACAGCAG	0.532																																					p.C110C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C330T	X						.						122.0	104.0	110.0					X																	6069178		2203	4300	6503	6079178	SO:0001819	synonymous_variant	57502	exon2			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.330C>T	X.37:g.6069178G>A			6079178	NM_020742	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1																																																																																				0.532	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
FAM9A	171482	broad.mit.edu	37	X	8766516	8766516	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:8766516C>A	ENST00000543214.1	-	4	360	c.225G>T	c.(223-225)aaG>aaT	p.K75N	FAM9A_ENST00000381003.3_Missense_Mutation_p.K75N	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	75						nucleus (GO:0005634)		p.K75N(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GGACTGGATCCTTTCCTGCAT	0.383																																					p.K75N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	X						.						145.0	131.0	136.0					X																	8766516		2203	4300	6503	8726516	SO:0001583	missense	171482	exon4				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.225G>T	X.37:g.8766516C>A	ENSP00000440163:p.Lys75Asn		8726516	NM_174951	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	4.390	0.071902	0.08436	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.739	-0.574	0.11738	.	.	.	.	.	T	0.32585	0.0834	L	0.49778	1.585	0.09310	N	1	B	0.23058	0.079	B	0.20384	0.029	T	0.32428	-0.9907	7	0.72032	D	0.01	.	.	.	.	.	75	Q8IZU1	FAM9A_HUMAN	N	75	.	ENSP00000370391:K75N	K	-	3	2	FAM9A	8726516	0.347000	0.24853	0.004000	0.12327	0.014000	0.08584	0.300000	0.19156	-0.243000	0.09653	-0.544000	0.04233	AAG		0.383	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951	
WWC3	55841	broad.mit.edu	37	X	10035413	10035413	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:10035413G>A	ENST00000380861.4	+	3	494	c.103G>A	c.(103-105)Gct>Act	p.A35T	WWC3_ENST00000454666.1_Missense_Mutation_p.A35T	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	35					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.A35T(2)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTCAGGAGGCTCTCAATGC	0.458																																					p.A35T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G103A	X						.						62.0	51.0	54.0					X																	10035413		2203	4300	6503	9995413	SO:0001583	missense	55841	exon3			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.103G>A	X.37:g.10035413G>A	ENSP00000370242:p.Ala35Thr		9995413	NM_015691	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290606	0.95546	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05717	3.4;3.4	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.00451	-1.1731	10	0.44086	T	0.13	-16.612	18.105	0.89517	0.0:0.0:1.0:0.0	.	35	Q9ULE0	WWC3_HUMAN	T	35	ENSP00000370242:A35T;ENSP00000399584:A35T	ENSP00000370242:A35T	A	+	1	0	WWC3	9995413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.622000	0.98378	2.211000	0.71520	0.506000	0.49869	GCT		0.458	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
ACE2	59272	broad.mit.edu	37	X	15589759	15589759	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:15589759C>T	ENST00000252519.3	-	13	1927	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N	ACE2_ENST00000427411.1_Missense_Mutation_p.D609N			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	609					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.D609N(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GGACTCCAGTCGGTACTCCAT	0.463																																					p.D609N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1825A	X						.						181.0	160.0	167.0					X																	15589759		2203	4300	6503	15499680	SO:0001583	missense	59272	exon14			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1825G>A	X.37:g.15589759C>T	ENSP00000252519:p.Asp609Asn		15499680	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	2.139	-0.397244	0.04899	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.31510	1.49;1.49	5.25	0.261	0.15592	.	0.816204	0.11739	N	0.534251	T	0.21387	0.0515	L	0.35414	1.06	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.28138	-1.0053	10	0.23891	T	0.37	-0.0165	9.7326	0.40370	0.0:0.6274:0.0:0.3726	.	609	Q9BYF1	ACE2_HUMAN	N	609	ENSP00000252519:D609N;ENSP00000389326:D609N	ENSP00000252519:D609N	D	-	1	0	ACE2	15499680	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.328000	0.07945	-0.470000	0.06901	-1.098000	0.02139	GAC		0.463	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
CTPS2	56474	broad.mit.edu	37	X	16717046	16717046	+	Splice_Site	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:16717046C>A	ENST00000443824.1	-	3	1080	c.337G>T	c.(337-339)Gtt>Ttt	p.V113F	CTPS2_ENST00000359276.4_Splice_Site_p.V113F|CTPS2_ENST00000380241.3_Splice_Site_p.V113F	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	113					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.V113F(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					AATATAATACCTTGCACTGTT	0.428																																					p.V113F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337T	X						.						157.0	141.0	146.0					X																	16717046		2203	4300	6503	16626967	SO:0001630	splice_region_variant	56474	exon3			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.337+1G>T	X.37:g.16717046C>A			16626967	NM_001144002	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346479	0.82022	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.58506	0.33;0.33;0.33	5.53	5.53	0.82687	CTP synthase, N-terminal (1);	0.000000	0.64402	D	0.000019	D	0.84727	0.5536	H	0.96833	3.89	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.90157	0.4225	9	.	.	.	-19.5869	18.5113	0.90917	0.0:1.0:0.0:0.0	.	113	Q9NRF8	PYRG2_HUMAN	F	113	ENSP00000401264:V113F;ENSP00000369590:V113F;ENSP00000352222:V113F	.	V	-	1	0	CTPS2	16626967	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	7.463000	0.80869	2.313000	0.78055	0.544000	0.68410	GTT		0.428	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857	Missense_Mutation
CTPS2	56474	broad.mit.edu	37	X	16721006	16721006	+	Missense_Mutation	SNP	G	G	A	rs200869248		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:16721006G>A	ENST00000443824.1	-	2	763	c.20C>T	c.(19-21)aCg>aTg	p.T7M	CTPS2_ENST00000359276.4_Missense_Mutation_p.T7M|CTPS2_ENST00000380241.3_Missense_Mutation_p.T7M	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	7					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.T7M(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GACCCCACCCGTGACCAGGAT	0.428																																					p.T7M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C20T	X						.						116.0	100.0	106.0					X																	16721006		2203	4300	6503	16630927	SO:0001583	missense	56474	exon2			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.20C>T	X.37:g.16721006G>A	ENSP00000401264:p.Thr7Met		16630927	NM_001144002	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008337	0.54361	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.53857	0.6;0.6;0.6	5.52	5.52	0.82312	CTP synthase, N-terminal (1);	0.000000	0.64402	D	0.000005	T	0.80597	0.4653	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86011	0.1501	10	0.87932	D	0	-15.0197	18.6316	0.91361	0.0:0.0:1.0:0.0	.	7	Q9NRF8	PYRG2_HUMAN	M	7	ENSP00000401264:T7M;ENSP00000369590:T7M;ENSP00000352222:T7M	ENSP00000352222:T7M	T	-	2	0	CTPS2	16630927	1.000000	0.71417	0.103000	0.21229	0.012000	0.07955	9.395000	0.97266	2.342000	0.79632	0.525000	0.51046	ACG		0.428	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857	
REPS2	9185	broad.mit.edu	37	X	17165584	17165584	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:17165584C>T	ENST00000357277.3	+	18	2134	c.1963C>T	c.(1963-1965)Cgt>Tgt	p.R655C	REPS2_ENST00000303843.7_Missense_Mutation_p.R654C|REPS2_ENST00000380064.4_Missense_Mutation_p.R454C|REPS2_ENST00000469714.1_3'UTR	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	655	Interaction with ASAP1. {ECO:0000250}.|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R516C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GGAACAACTTCGTCCGGTCAC	0.423																																					p.R655C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1963T	X						.						189.0	170.0	176.0					X																	17165584		2203	4299	6502	17075505	SO:0001583	missense	9185	exon18			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1963C>T	X.37:g.17165584C>T	ENSP00000349824:p.Arg655Cys		17075505	NM_004726	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215111	0.79352	.	.	ENSG00000169891	ENST00000357277;ENST00000303843;ENST00000380064	T;T;T	0.53640	0.72;0.71;0.61	6.16	6.16	0.99307	.	0.168832	0.42821	D	0.000643	T	0.70422	0.3222	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.997	T	0.71807	-0.4481	10	0.87932	D	0	-2.4258	19.3186	0.94226	0.0:1.0:0.0:0.0	.	454;654;655	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	C	655;654;454	ENSP00000349824:R655C;ENSP00000306033:R654C;ENSP00000369404:R454C	ENSP00000306033:R654C	R	+	1	0	REPS2	17075505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.867000	0.63013	2.614000	0.88457	0.594000	0.82650	CGT		0.423	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726	
NHS	4810	broad.mit.edu	37	X	17705889	17705889	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:17705889A>C	ENST00000380060.3	+	2	931	c.593A>C	c.(592-594)aAg>aCg	p.K198T	NHS_ENST00000398097.3_Missense_Mutation_p.K21T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	198	WAVE homology domain (WHD).				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.K198T(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)					ATAGAGAGTAAGCTGAGTGTG	0.607																																					p.K21T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A62C	X						.						151.0	126.0	134.0					X																	17705889		2203	4300	6503	17615810	SO:0001583	missense	4810	exon2				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.593A>C	X.37:g.17705889A>C	ENSP00000369400:p.Lys198Thr		17615810	NM_001136024	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704803	0.88924	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.60040	0.53;0.22	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	L	0.52126	1.63	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	0.73911	-0.3833	10	0.72032	D	0.01	-6.6934	14.8143	0.70020	1.0:0.0:0.0:0.0	.	198;19;21;198	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	T	198;21;19	ENSP00000369400:K198T;ENSP00000381170:K21T	ENSP00000369397:K19T	K	+	2	0	NHS	17615810	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.962000	0.93254	1.880000	0.54463	0.417000	0.27973	AAG		0.607	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
NHS	4810	broad.mit.edu	37	X	17750037	17750037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:17750037C>T	ENST00000380060.3	+	8	4684	c.4346C>T	c.(4345-4347)tCg>tTg	p.S1449L	NHS_ENST00000398097.3_Missense_Mutation_p.S1293L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1470					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.S1449L(2)		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)					CGAAGCAAATCGAGAGCTCCC	0.498																																					p.S1293L												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C3878T	X						.						123.0	122.0	122.0					X																	17750037		2203	4300	6503	17659958	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.4346C>T	X.37:g.17750037C>T	ENSP00000369400:p.Ser1449Leu		17659958	NM_001136024	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505204	0.26949	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.51071	0.72;0.73	5.79	5.79	0.91817	.	0.326684	0.31542	N	0.007471	T	0.32466	0.0830	N	0.16743	0.435	0.38203	D	0.940252	B;B;B;B	0.18741	0.007;0.007;0.007;0.03	B;B;B;B	0.14023	0.002;0.002;0.002;0.01	T	0.19095	-1.0316	10	0.38643	T	0.18	-6.6552	12.5976	0.56478	0.0:0.9127:0.0:0.0872	.	1470;1291;1293;1449	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	L	1449;1293;1291	ENSP00000369400:S1449L;ENSP00000381170:S1293L	ENSP00000369397:S1291L	S	+	2	0	NHS	17659958	0.999000	0.42202	0.919000	0.36401	0.375000	0.29983	3.840000	0.55843	2.435000	0.82474	0.600000	0.82982	TCG		0.498	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
BEND2	139105	broad.mit.edu	37	X	18189138	18189138	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:18189138T>G	ENST00000380033.4	-	13	2300	c.2168A>C	c.(2167-2169)aAg>aCg	p.K723T	BEND2_ENST00000380030.3_Missense_Mutation_p.K632T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	723	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.K723T(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						AGCACTAATCTTATTGGGGTC	0.403																																					p.K723T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2168C	X						.						185.0	165.0	172.0					X																	18189138		2203	4300	6503	18099059	SO:0001583	missense	139105	exon13			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.2168A>C	X.37:g.18189138T>G	ENSP00000369372:p.Lys723Thr		18099059	NM_153346	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834320	0.50951	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.56444	0.46;0.46	5.49	-6.24	0.02046	BEN domain (2);	0.604044	0.16012	N	0.233762	T	0.45135	0.1327	M	0.61703	1.905	0.09310	N	1	P;P	0.39535	0.677;0.677	B;B	0.43445	0.42;0.42	T	0.44907	-0.9297	10	0.72032	D	0.01	-2.911	5.9406	0.19192	0.0998:0.6069:0.0987:0.1945	.	632;723	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	T	723;632	ENSP00000369372:K723T;ENSP00000369369:K632T	ENSP00000369369:K632T	K	-	2	0	BEND2	18099059	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.875000	0.01634	-1.804000	0.01241	-0.538000	0.04264	AAG		0.403	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
BEND2	139105	broad.mit.edu	37	X	18213460	18213460	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:18213460G>A	ENST00000380033.4	-	7	1268	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	379								p.A379V(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						TGGATATGGGGCACTCGTATT	0.393																																					p.A379V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1136T	X						.						169.0	144.0	152.0					X																	18213460		2203	4300	6503	18123381	SO:0001583	missense	139105	exon7			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.1136C>T	X.37:g.18213460G>A	ENSP00000369372:p.Ala379Val		18123381	NM_153346	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	1.471	-0.559871	0.03967	.	.	ENSG00000177324	ENST00000380033	T	0.24908	1.83	2.89	-5.79	0.02354	.	.	.	.	.	T	0.06917	0.0176	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	9	0.27785	T	0.31	.	2.6936	0.05127	0.1051:0.148:0.3816:0.3653	.	379	Q8NDZ0	BEND2_HUMAN	V	379	ENSP00000369372:A379V	ENSP00000369372:A379V	A	-	2	0	BEND2	18123381	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.824000	0.00357	-3.419000	0.00167	-3.618000	0.00027	GCC		0.393	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
BEND2	139105	broad.mit.edu	37	X	18230697	18230697	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:18230697G>A	ENST00000380033.4	-	4	612	c.480C>T	c.(478-480)ttC>ttT	p.F160F	BEND2_ENST00000380030.3_Silent_p.F160F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	160								p.F160F(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						CTGGAGTATAGAATCTTCCTC	0.328																																					p.F160F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	X						.						150.0	139.0	143.0					X																	18230697		2203	4300	6503	18140618	SO:0001819	synonymous_variant	139105	exon4			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.480C>T	X.37:g.18230697G>A			18140618	NM_153346	E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	CCDS14184.1																																																																																				0.328	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
SCML2	10389	broad.mit.edu	37	X	18276313	18276313	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:18276313C>T	ENST00000251900.4	-	10	1283	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	SCML2_ENST00000398048.3_Missense_Mutation_p.R111K	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	375					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R375K(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGCTGGATTCTCTTGGGATC	0.478																																					p.R375K	Esophageal Squamous(100;1252 1965 19021 35517)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1124A	X						.						98.0	94.0	95.0					X																	18276313		2203	4300	6503	18186234	SO:0001583	missense	10389	exon10			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1124G>A	X.37:g.18276313C>T	ENSP00000251900:p.Arg375Lys		18186234	NM_006089	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.451036	0.01080	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.36340	1.26;1.26	5.35	-4.18	0.03846	.	0.580733	0.19277	N	0.118250	T	0.08358	0.0208	N	0.00377	-1.585	0.09310	N	0.999998	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.10450	0.002;0.005;0.002	T	0.28299	-1.0048	10	0.02654	T	1	.	17.7051	0.88306	0.0:0.0845:0.0:0.9155	.	343;111;375	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	K	375;111;343	ENSP00000251900:R375K;ENSP00000381126:R111K	ENSP00000251900:R375K	R	-	2	0	SCML2	18186234	0.995000	0.38212	0.020000	0.16555	0.014000	0.08584	0.540000	0.23191	-0.912000	0.03837	-0.401000	0.06369	AGA		0.478	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	
CDKL5	6792	broad.mit.edu	37	X	18622879	18622879	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:18622879C>A	ENST00000379989.3	+	13	2120	c.1835C>A	c.(1834-1836)tCt>tAt	p.S612Y	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.S612Y	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	612					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.S612Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CATAGGCATTCTATGTATGTG	0.512																																					p.S612Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1835A	X						.						192.0	185.0	188.0					X																	18622879		2203	4300	6503	18532800	SO:0001583	missense	6792	exon12			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1835C>A	X.37:g.18622879C>A	ENSP00000369325:p.Ser612Tyr		18532800	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516526	0.64634	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79247	-1.25;-1.25	5.83	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	L	0.36672	1.1	0.44619	D	0.997591	P	0.49635	0.926	P	0.44597	0.454	T	0.75625	-0.3253	10	0.87932	D	0	-15.0647	14.0049	0.64456	0.0:0.9259:0.0:0.0741	.	612	O76039	CDKL5_HUMAN	Y	612	ENSP00000369332:S612Y;ENSP00000369325:S612Y	ENSP00000369325:S612Y	S	+	2	0	CDKL5	18532800	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.294000	0.78760	1.224000	0.43551	0.600000	0.82982	TCT		0.512	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
PHKA2	5256	broad.mit.edu	37	X	18961840	18961840	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:18961840G>A	ENST00000379942.4	-	7	1370	c.705C>T	c.(703-705)gtC>gtT	p.V235V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	235					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|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.V235V(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGCAGTGCTCGACCTCATCTG	0.532																																					p.V235V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705T	X						.						209.0	172.0	185.0					X																	18961840		2203	4300	6503	18871761	SO:0001819	synonymous_variant	5256	exon7				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.705C>T	X.37:g.18961840G>A			18871761	NM_000292	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	CCDS14190.1																																																																																				0.532	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
MAP3K15	389840	broad.mit.edu	37	X	19379675	19379675	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:19379675C>T	ENST00000338883.4	-	27	3715	c.3716G>A	c.(3715-3717)aGa>aAa	p.R1239K	PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R674K|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R1071K|PDHA1_ENST00000545074.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1239							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R714K(1)|p.R1286K(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTTATCTGTTCTCTGCCCGTA	0.383																																					p.R1239K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3716A	X						.						96.0	97.0	96.0					X																	19379675		2203	4300	6503	19289596	SO:0001583	missense	389840	exon27			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3716G>A	X.37:g.19379675C>T	ENSP00000345629:p.Arg1239Lys		19289596	NM_001001671	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	C	8.234	0.805407	0.16467	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72167	-0.59;-0.63;-0.59	5.82	0.864	0.19068	Sterile alpha motif/pointed domain (1);	0.627510	0.14947	N	0.289122	T	0.38692	0.1050	N	0.03115	-0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.24119	-1.0169	10	0.09843	T	0.71	.	5.4363	0.16484	0.0:0.4367:0.1376:0.4257	.	714;1239	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	K	1239;674;1071	ENSP00000345629:R1239K;ENSP00000352093:R674K;ENSP00000428356:R1071K	ENSP00000345629:R1239K	R	-	2	0	MAP3K15	19289596	0.000000	0.05858	0.002000	0.10522	0.511000	0.34104	-0.427000	0.06999	-0.041000	0.13558	0.544000	0.68410	AGA		0.383	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
MAP3K15	389840	broad.mit.edu	37	X	19410479	19410479	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:19410479G>A	ENST00000338883.4	-	17	2306	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	MAP3K15_ENST00000359173.3_Silent_p.I204I|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.I601I	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.I816I(1)|p.I244I(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCTGTGCACGATCTGGTTTT	0.468																																					p.I769I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2307T	X						.						216.0	180.0	192.0					X																	19410479		2203	4300	6503	19320400	SO:0001819	synonymous_variant	389840	exon17			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2307C>T	X.37:g.19410479G>A			19320400	NM_001001671	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37																																																																																					0.468	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
MAP3K15	389840	broad.mit.edu	37	X	19431491	19431491	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:19431491A>G	ENST00000338883.4	-	11	1681	c.1682T>C	c.(1681-1683)gTc>gCc	p.V561A	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.V393A	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	561							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.V608A(1)|p.C3C(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGTGGGTGAGACATGCCATAA	0.398																																					p.V561A												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.T1682C	X						.						256.0	229.0	238.0					X																	19431491		2203	4300	6503	19341412	SO:0001583	missense	389840	exon11			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1682T>C	X.37:g.19431491A>G	ENSP00000345629:p.Val561Ala		19341412	NM_001001671	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	A	20.4	3.979753	0.74360	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.75154	-0.91;-0.9	4.92	4.92	0.64577	.	0.067052	0.64402	D	0.000015	D	0.85039	0.5606	M	0.84683	2.71	0.58432	D	0.999995	.	.	.	.	.	.	D	0.87302	0.2306	8	0.62326	D	0.03	.	13.9709	0.64240	1.0:0.0:0.0:0.0	.	.	.	.	A	561;393	ENSP00000345629:V561A;ENSP00000428356:V393A	ENSP00000345629:V561A	V	-	2	0	MAP3K15	19341412	1.000000	0.71417	0.983000	0.44433	0.960000	0.62799	5.878000	0.69682	1.744000	0.51775	0.339000	0.21740	GTC		0.398	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
SH3KBP1	30011	broad.mit.edu	37	X	19764487	19764487	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:19764487T>G	ENST00000397821.3	-	3	525	c.235A>C	c.(235-237)Agt>Cgt	p.S79R	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.S79R|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.S42R	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	79					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S79R(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAGTTTCCACTGGGCACTTCG	0.428																																					p.S42R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A124C	X						.						137.0	131.0	133.0					X																	19764487		2203	4300	6503	19674408	SO:0001583	missense	30011	exon2			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.235A>C	X.37:g.19764487T>G	ENSP00000380921:p.Ser79Arg		19674408	NM_001024666	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.146871	0.37923	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234	T;T;T;T;T	0.50548	1.44;1.49;1.31;1.08;0.74	5.84	0.779	0.18550	.	1.600950	0.02938	N	0.140097	T	0.40196	0.1107	L	0.36672	1.1	0.80722	D	1	B;B	0.28128	0.201;0.023	B;B	0.21708	0.036;0.029	T	0.06679	-1.0813	10	0.72032	D	0.01	-0.4256	8.1827	0.31319	0.0:0.3272:0.0:0.6728	.	79;42	Q96B97;Q5JPT5	SH3K1_HUMAN;.	R	20;79;42;15;79;26	ENSP00000380921:S79R;ENSP00000369020:S42R;ENSP00000369049:S15R;ENSP00000369019:S79R;ENSP00000388766:S26R	ENSP00000369019:S79R	S	-	1	0	SH3KBP1	19674408	1.000000	0.71417	0.890000	0.34922	0.814000	0.46013	0.688000	0.25422	-0.210000	0.10140	-0.323000	0.08544	AGT		0.428	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	
SMS	6611	broad.mit.edu	37	X	22003279	22003279	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:22003279C>A	ENST00000404933.2	+	9	1135	c.883C>A	c.(883-885)Ctc>Atc	p.L295I	SMS_ENST00000415881.2_Missense_Mutation_p.L199I|SMS_ENST00000379404.1_Missense_Mutation_p.L242I	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	295	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.L295I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	ATGGGAGTTTCTCAGACTGAT	0.343																																					p.L295I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C883A	X						.						87.0	82.0	84.0					X																	22003279		2203	4300	6503	21913200	SO:0001583	missense	6611	exon9			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.883C>A	X.37:g.22003279C>A	ENSP00000385746:p.Leu295Ile		21913200	NM_004595	A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023715	0.54683	.	.	ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881	T;T;T	0.79454	-1.27;-1.27;-1.27	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	L	0.28556	0.865	0.48696	D	0.999695	D	0.60160	0.987	D	0.79784	0.993	T	0.75536	-0.3283	10	0.24483	T	0.36	-12.3851	10.1256	0.42648	0.0:0.8395:0.0:0.1605	.	295	P52788	SPSY_HUMAN	I	295;242;199	ENSP00000385746:L295I;ENSP00000368714:L242I;ENSP00000388906:L199I	ENSP00000368714:L242I	L	+	1	0	SMS	21913200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	2.232000	0.73038	0.600000	0.82982	CTC		0.343	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595	
ZNF645	158506	broad.mit.edu	37	X	22291207	22291207	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:22291207T>C	ENST00000323684.1	+	1	143	c.99T>C	c.(97-99)atT>atC	p.I33I		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	33					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.I33I(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGAAAAAAATTCCTGGTTACC	0.343																																					p.I33I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T99C	X						.						68.0	67.0	67.0					X																	22291207		2203	4300	6503	22201128	SO:0001819	synonymous_variant	158506	exon1			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.99T>C	X.37:g.22291207T>C			22201128	NM_152577	A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	CCDS14205.1																																																																																				0.343	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577	
DDX53	168400	broad.mit.edu	37	X	23019629	23019629	+	Silent	SNP	C	C	T	rs373240695		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:23019629C>T	ENST00000327968.5	+	1	1543	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	485	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.S485S(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ACTTGTCAAGCGACTTCAATA	0.413																																					p.S485S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455T	X						.	C		1,3834		0,1,1631,571	117.0	103.0	107.0		1455	-4.1	0.0	X		107	0,6728		0,0,2428,1872	no	coding-synonymous	DDX53	NM_182699.3		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		485/632	23019629	1,10562	2203	4300	6503	22929550	SO:0001819	synonymous_variant	168400	exon1			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1455C>T	X.37:g.23019629C>T			22929550	NM_182699	Q0D2N2|Q6NVV4	Silent	SNP	ENST00000327968.5	37	CCDS35214.1																																																																																				0.413	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699	
PCYT1B	9468	broad.mit.edu	37	X	24608208	24608208	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:24608208G>A	ENST00000379144.2	-	4	548	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	PCYT1B_ENST00000356768.4_Missense_Mutation_p.R140C|PCYT1B_ENST00000379145.1_Missense_Mutation_p.R122C	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	140					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)	p.R140C(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TCTACGTAGCGACAGTGTCTG	0.453																																					p.R122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	X						.						170.0	129.0	143.0					X																	24608208		2203	4300	6503	24518129	SO:0001583	missense	9468	exon4			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.418C>T	X.37:g.24608208G>A	ENSP00000368439:p.Arg140Cys		24518129	NM_001163264	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854507	0.91355	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96685	-4.09;-4.09;-4.09	5.44	5.44	0.79542	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.99169	4.455	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	0.99000	1.0811	10	0.87932	D	0	-20.717	18.3331	0.90277	0.0:0.0:1.0:0.0	.	140;122;140	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	C	122;140;140	ENSP00000368440:R122C;ENSP00000368439:R140C;ENSP00000349211:R140C	ENSP00000349211:R140C	R	-	1	0	PCYT1B	24518129	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.263000	0.95617	2.524000	0.85096	0.600000	0.82982	CGC		0.453	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845	
POLA1	5422	broad.mit.edu	37	X	24744172	24744172	+	Splice_Site	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:24744172G>A	ENST00000379059.3	+	13	1389	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	POLA1_ENST00000379068.3_Splice_Site_p.S464S	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	458					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.S458S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TTAAATACTCGGTAAGTCAAA	0.343																																					p.S458S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1374A	X						.						54.0	53.0	54.0					X																	24744172		2203	4299	6502	24654093	SO:0001630	splice_region_variant	5422	exon13				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1374+1G>A	X.37:g.24744172G>A			24654093	NM_016937	Q86UQ7	Silent	SNP	ENST00000379059.3	37	CCDS14214.1																																																																																				0.343	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	Silent
POLA1	5422	broad.mit.edu	37	X	24767006	24767006	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:24767006C>T	ENST00000379059.3	+	26	2858	c.2843C>T	c.(2842-2844)gCt>gTt	p.A948V	POLA1_ENST00000379068.3_Missense_Mutation_p.A954V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	948					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.A948V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CGACAGAAGGCTTTGAAGCTC	0.428																																					p.A948V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2843T	X						.						189.0	151.0	164.0					X																	24767006		2203	4300	6503	24676927	SO:0001583	missense	5422	exon26				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2843C>T	X.37:g.24767006C>T	ENSP00000368349:p.Ala948Val		24676927	NM_016937	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	c	27.7	4.851343	0.91355	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.32272	1.46;1.46	4.65	4.65	0.58169	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80997	-0.1132	10	0.72032	D	0.01	-10.471	16.8165	0.85735	0.0:1.0:0.0:0.0	.	948	P09884	DPOLA_HUMAN	V	954;948	ENSP00000368358:A954V;ENSP00000368349:A948V	ENSP00000368349:A948V	A	+	2	0	POLA1	24676927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.145000	0.66743	0.591000	0.81541	GCT		0.428	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	
MAGEB18	286514	broad.mit.edu	37	X	26157474	26157474	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:26157474G>A	ENST00000325250.1	+	2	559	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	124	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.T124T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGTATGAAACGAAAGAGCCAA	0.423													G|||	1	0.000264901	0.0008	0.0	3775	,	,		16067	0.0		0.0	False		,,,				2504	0.0				p.T124T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G372A	X						.						38.0	29.0	32.0					X																	26157474		2202	4300	6502	26067395	SO:0001819	synonymous_variant	286514	exon2			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.372G>A	X.37:g.26157474G>A			26067395	NM_173699		Silent	SNP	ENST00000325250.1	37	CCDS14216.1																																																																																				0.423	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699	
DCAF8L1	139425	broad.mit.edu	37	X	27997802	27997802	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:27997802G>T	ENST00000441525.1	-	1	1764	c.1650C>A	c.(1648-1650)ttC>ttA	p.F550L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	550								p.F550L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GACGCACGAAGAACCGAAGCA	0.478																																					p.F550L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1650A	X						.						172.0	133.0	146.0					X																	27997802		2202	4300	6502	27907723	SO:0001583	missense	139425	exon1				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1650C>A	X.37:g.27997802G>T	ENSP00000405222:p.Phe550Leu		27907723	NM_001017930	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	5.782	0.328646	0.10956	.	.	ENSG00000226372	ENST00000441525	T	0.64618	-0.11	0.842	-0.142	0.13448	.	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	M	0.73962	2.25	0.39349	D	0.965714	B	0.12013	0.005	B	0.12837	0.008	T	0.34153	-0.9840	10	0.23891	T	0.37	-3.6087	5.2269	0.15399	0.2462:0.0:0.7538:0.0	.	550	A6NGE4	DC8L1_HUMAN	L	550	ENSP00000405222:F550L	ENSP00000405222:F550L	F	-	3	2	DCAF8L1	27907723	1.000000	0.71417	0.014000	0.15608	0.002000	0.02628	1.690000	0.37711	-0.137000	0.11455	-0.739000	0.03532	TTC		0.478	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
DCAF8L1	139425	broad.mit.edu	37	X	27998054	27998054	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:27998054C>T	ENST00000441525.1	-	1	1512	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	466								p.E466E(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGATGATTTCTCCCAGAAGA	0.488																																					p.E466E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1398A	X						.						51.0	45.0	47.0					X																	27998054		2202	4300	6502	27907975	SO:0001819	synonymous_variant	139425	exon1				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1398G>A	X.37:g.27998054C>T			27907975	NM_001017930	B3KXX1	Silent	SNP	ENST00000441525.1	37	CCDS35222.1																																																																																				0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
IL1RAPL1	11141	broad.mit.edu	37	X	29417351	29417351	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:29417351A>G	ENST00000378993.1	+	5	1302	c.629A>G	c.(628-630)gAc>gGc	p.D210G	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.D210G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	210	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.D210G(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAGAAGATGACATTGGAAAT	0.333																																					p.D210G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A629G	X						.						76.0	73.0	74.0					X																	29417351		2201	4294	6495	29327272	SO:0001583	missense	11141	exon5			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.629A>G	X.37:g.29417351A>G	ENSP00000368278:p.Asp210Gly		29327272	NM_014271	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087109	0.76642	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	D;D	0.85702	-2.02;-2.02	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.93854	3.465	0.51233	D	0.999913	D	0.89917	1.0	D	0.85130	0.997	D	0.95389	0.8480	9	.	.	.	.	14.1417	0.65325	1.0:0.0:0.0:0.0	.	210	Q9NZN1	IRPL1_HUMAN	G	210	ENSP00000368278:D210G;ENSP00000305200:D210G	.	D	+	2	0	IL1RAPL1	29327272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	1.938000	0.56188	0.425000	0.28330	GAC		0.333	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
MAGEB2	4113	broad.mit.edu	37	X	30237448	30237448	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:30237448G>A	ENST00000378988.4	+	2	852	c.751G>A	c.(751-753)Gat>Aat	p.D251N		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	251	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.D251N(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CATCACCAAAGATCTGGTGCA	0.507																																					p.D251N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G751A	X						.						59.0	53.0	55.0					X																	30237448		2202	4300	6502	30147369	SO:0001583	missense	4113	exon2			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.751G>A	X.37:g.30237448G>A	ENSP00000368273:p.Asp251Asn		30147369	NM_002364	O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571395	0.65765	.	.	ENSG00000099399	ENST00000378988	T	0.05081	3.5	3.18	3.18	0.36537	.	0.173853	0.48767	D	0.000179	T	0.26085	0.0636	M	0.91612	3.225	0.30830	N	0.736794	P	0.41673	0.759	P	0.59012	0.85	T	0.07271	-1.0781	10	0.59425	D	0.04	.	9.0652	0.36458	0.0:0.0:1.0:0.0	.	251	O15479	MAGB2_HUMAN	N	251	ENSP00000368273:D251N	ENSP00000368273:D251N	D	+	1	0	MAGEB2	30147369	0.995000	0.38212	0.926000	0.36857	0.022000	0.10575	2.435000	0.44811	1.874000	0.54306	0.436000	0.28706	GAT		0.507	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
GK	2710	broad.mit.edu	37	X	30671719	30671719	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:30671719C>T	ENST00000378941.3	+	1	65	c.65C>T	c.(64-66)tCg>tTg	p.S22L	GK_ENST00000378945.3_Missense_Mutation_p.S22L|GK_ENST00000427190.1_5'UTR|GK_ENST00000378943.3_Missense_Mutation_p.S22L|GK_ENST00000378946.3_Missense_Mutation_p.S22L			P32189	GLPK_HUMAN	glycerol kinase	22					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.S22L(1)		central_nervous_system(1)|large_intestine(3)	4						GGCACCAGTTCGACGCGCTTT	0.667																																					p.S22L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C65T	X						.						60.0	59.0	59.0					X																	30671719		2202	4299	6501	30581640	SO:0001583	missense	2710	exon1			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.65C>T	X.37:g.30671719C>T	ENSP00000368224:p.Ser22Leu		30581640	NM_001128127	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378941.3	37		.	.	.	.	.	.	.	.	.	.	C	28.0	4.883687	0.91740	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000378941	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.82554	0.5062	H	0.95539	3.685	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62298	0.839;0.839;0.9	D	0.87258	0.2277	10	0.87932	D	0	.	12.4672	0.55766	0.0:1.0:0.0:0.0	.	22;22;22	P32189-2;P32189-1;A6NJP5	.;.;.	L	22	ENSP00000368229:S22L;ENSP00000368226:S22L;ENSP00000368228:S22L;ENSP00000368224:S22L	ENSP00000368224:S22L	S	+	2	0	GK	30581640	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.465000	0.53064	2.435000	0.82474	0.600000	0.82982	TCG		0.667	GK-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000056171.1	NM_000167	
DMD	1756	broad.mit.edu	37	X	32407652	32407652	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:32407652T>G	ENST00000357033.4	-	32	4690	c.4484A>C	c.(4483-4485)cAg>cCg	p.Q1495P	DMD_ENST00000378677.2_Missense_Mutation_p.Q1491P	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	1495	Interaction with SYNM. {ECO:0000250}.				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.Q1490P(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)				TACTACTTCCTGTTCCACACT	0.413																																					p.Q154P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461C	X						.						208.0	156.0	174.0					X																	32407652		2202	4300	6502	32317573	SO:0001583	missense	1756	exon4			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.4484A>C	X.37:g.32407652T>G	ENSP00000354923:p.Gln1495Pro		32317573	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	9.551	1.115988	0.20795	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.16457	2.34;2.34	5.58	5.58	0.84498	.	0.000000	0.33572	U	0.004771	T	0.07593	0.0191	N	0.05280	-0.08	0.80722	D	1	B;B;B;B;B	0.33637	0.42;0.07;0.296;0.064;0.064	B;B;B;B;B	0.28465	0.09;0.017;0.041;0.019;0.019	T	0.20974	-1.0259	10	0.07030	T	0.85	.	14.7349	0.69409	0.0:0.0:0.0:1.0	.	1487;1495;1491;154;151	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	P	1487;154;151;1491;1495;1495;1372	ENSP00000367948:Q1491P;ENSP00000354923:Q1495P	ENSP00000354923:Q1495P	Q	-	2	0	DMD	32317573	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.812000	0.69194	1.861000	0.53984	0.481000	0.45027	CAG		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
FAM47A	158724	broad.mit.edu	37	X	34148155	34148155	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:34148155G>A	ENST00000346193.3	-	1	2292	c.2241C>T	c.(2239-2241)ggC>ggT	p.G747G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	747								p.G747G(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCATTTCATAGCCCTTGCTTA	0.413																																					p.G747G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2241T	X						.						120.0	116.0	118.0					X																	34148155		2202	4297	6499	34058076	SO:0001819	synonymous_variant	158724	exon1			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2241C>T	X.37:g.34148155G>A			34058076	NM_203408	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																				0.413	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
FAM47A	158724	broad.mit.edu	37	X	34150306	34150306	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:34150306G>A	ENST00000346193.3	-	1	141	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	30								p.F30F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGCACTTCGCGAAGCACTTGG	0.617																																					p.F30F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C90T	X						.						54.0	54.0	54.0					X																	34150306		2202	4300	6502	34060227	SO:0001819	synonymous_variant	158724	exon1			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.90C>T	X.37:g.34150306G>A			34060227	NM_203408	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																				0.617	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
FAM47B	170062	broad.mit.edu	37	X	34961038	34961038	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:34961038C>T	ENST00000329357.5	+	1	126	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	30								p.F30F(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAAGTACTTCGCGAAGCGCA	0.622																																					p.F30F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C90T	X						.						33.0	28.0	30.0					X																	34961038		2202	4300	6502	34870959	SO:0001819	synonymous_variant	170062	exon1			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.90C>T	X.37:g.34961038C>T			34870959	NM_152631	Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	CCDS14236.1																																																																																				0.622	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
CXorf22	170063	broad.mit.edu	37	X	35944213	35944213	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:35944213A>G	ENST00000297866.5	+	2	395	c.329A>G	c.(328-330)gAt>gGt	p.D110G		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	110								p.D110G(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						TATCATCCTGATAAAGACGAA	0.383																																					p.D110G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A329G	X						.						76.0	68.0	71.0					X																	35944213		2202	4300	6502	35854134	SO:0001583	missense	170063	exon2			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.329A>G	X.37:g.35944213A>G	ENSP00000297866:p.Asp110Gly		35854134	NM_152632	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964986	0.34659	.	.	ENSG00000165164	ENST00000297866	T	0.16457	2.34	4.73	2.02	0.26589	.	0.532214	0.20717	N	0.086986	T	0.19644	0.0472	M	0.69823	2.125	0.09310	N	1	P	0.52316	0.952	P	0.46543	0.52	T	0.09314	-1.0680	10	0.30854	T	0.27	-22.063	4.8055	0.13317	0.6261:0.1883:0.0:0.1856	.	110	Q6ZTR5	CX022_HUMAN	G	110	ENSP00000297866:D110G	ENSP00000297866:D110G	D	+	2	0	CXorf22	35854134	0.996000	0.38824	0.759000	0.31340	0.459000	0.32528	2.649000	0.46656	0.552000	0.29026	0.430000	0.28490	GAT		0.383	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
CXorf22	170063	broad.mit.edu	37	X	35969991	35969991	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:35969991A>C	ENST00000297866.5	+	6	1023	c.957A>C	c.(955-957)atA>atC	p.I319I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	319								p.I319I(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						TAAAGAACATAGATACTACTA	0.294																																					p.I319I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A957C	X						.						50.0	49.0	50.0					X																	35969991		2189	4246	6435	35879912	SO:0001819	synonymous_variant	170063	exon6			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.957A>C	X.37:g.35969991A>C			35879912	NM_152632	Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	CCDS14237.2																																																																																				0.294	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
CXorf22	170063	broad.mit.edu	37	X	35993924	35993924	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:35993924T>C	ENST00000297866.5	+	15	2673	c.2607T>C	c.(2605-2607)ttT>ttC	p.F869F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	869								p.F869F(1)		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						AAACATGTTTTCGGGGGACAG	0.433																																					p.F869F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2607C	X						.						179.0	158.0	165.0					X																	35993924		2202	4300	6502	35903845	SO:0001819	synonymous_variant	170063	exon15			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.2607T>C	X.37:g.35993924T>C			35903845	NM_152632	Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	CCDS14237.2																																																																																				0.433	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
CXorf22	170063	broad.mit.edu	37	X	36007494	36007494	+	Silent	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:36007494T>C	ENST00000297866.5	+	16	2838	c.2772T>C	c.(2770-2772)agT>agC	p.S924S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	924								p.S924S(1)		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						AGGGCTTCAGTTCTCCAGAAG	0.373																																					p.S924S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2772C	X						.						89.0	75.0	80.0					X																	36007494		2202	4300	6502	35917415	SO:0001819	synonymous_variant	170063	exon16			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.2772T>C	X.37:g.36007494T>C			35917415	NM_152632	Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	CCDS14237.2																																																																																				0.373	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
CXorf22	170063	broad.mit.edu	37	X	36007610	36007610	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:36007610A>C	ENST00000297866.5	+	16	2954	c.2888A>C	c.(2887-2889)gAa>gCa	p.E963A		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	963								p.E963A(1)		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						GAGGGCTATGAATTTGTTGGG	0.333																																					p.E963A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2888C	X						.						139.0	117.0	124.0					X																	36007610		2202	4300	6502	35917531	SO:0001583	missense	170063	exon16			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.2888A>C	X.37:g.36007610A>C	ENSP00000297866:p.Glu963Ala		35917531	NM_152632	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	8.857	0.946055	0.18356	.	.	ENSG00000165164	ENST00000297866	T	0.14022	2.54	4.77	-3.92	0.04155	.	1.497170	0.04233	N	0.335590	T	0.08802	0.0218	L	0.29908	0.895	0.09310	N	1	B	0.20780	0.048	B	0.18871	0.023	T	0.35649	-0.9780	10	0.51188	T	0.08	-1.6463	1.8918	0.03249	0.2997:0.1553:0.391:0.154	.	963	Q6ZTR5	CX022_HUMAN	A	963	ENSP00000297866:E963A	ENSP00000297866:E963A	E	+	2	0	CXorf22	35917531	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.597000	0.05813	-1.252000	0.01501	GAA		0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
HYPM	25763	broad.mit.edu	37	X	37850383	37850383	+	Silent	SNP	C	C	T	rs374389406		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:37850383C>T	ENST00000341016.3	+	1	314	c.291C>T	c.(289-291)agC>agT	p.S97S	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		97								p.S97S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AGCCCCACAGCGCTGAGAGTG	0.527																																					p.S97S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	X						.	C		0,3691		0,0,1560,571	101.0	106.0	104.0		291	-6.3	0.0	X		104	1,6606		0,1,2393,1819	no	coding-synonymous	CXorf27	NM_012274.1		0,1,3953,2390	TT,TC,CC,C		0.0151,0.0,0.0097		97/118	37850383	1,10297	2131	4213	6344	37735327	SO:0001819	synonymous_variant	25763	exon1																														ENST00000341016.3:c.291C>T	X.37:g.37850383C>T			37735327	NM_012274	A1A4D3	Silent	SNP	ENST00000341016.3	37	CCDS43929.1																																																																																				0.527	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1		
SYTL5	94122	broad.mit.edu	37	X	37969600	37969600	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:37969600A>C	ENST00000357972.5	+	13	2007	c.1461A>C	c.(1459-1461)gaA>gaC	p.E487D	SYTL5_ENST00000297875.2_Missense_Mutation_p.E487D|SYTL5_ENST00000456733.2_Missense_Mutation_p.E509D|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	487	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.E487D(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CCCAGCTGGAAACAAGAACTC	0.443																																					p.E487D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1461C	X						.						142.0	112.0	122.0					X																	37969600		2202	4300	6502	37854544	SO:0001583	missense	94122	exon13				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1461A>C	X.37:g.37969600A>C	ENSP00000350657:p.Glu487Asp		37854544	NM_138780	A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828228	0.71143	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.68479	-0.33;-0.33;-0.33	5.79	4.64	0.57946	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.044562	0.85682	D	0.000000	T	0.66157	0.2761	L	0.37850	1.14	0.48571	D	0.999675	D;P	0.59357	0.985;0.821	P;B	0.60012	0.867;0.419	T	0.61549	-0.7040	10	0.19590	T	0.45	-19.1447	8.4978	0.33138	0.8503:0.0:0.1497:0.0	.	509;487	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	D	487;487;509	ENSP00000297875:E487D;ENSP00000350657:E487D;ENSP00000395220:E509D	ENSP00000297875:E487D	E	+	3	2	SYTL5	37854544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.467000	0.53078	1.951000	0.56629	0.430000	0.28490	GAA		0.443	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
SYTL5	94122	broad.mit.edu	37	X	37981403	37981403	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:37981403C>A	ENST00000357972.5	+	15	2322	c.1776C>A	c.(1774-1776)ttC>ttA	p.F592L	SYTL5_ENST00000297875.2_Missense_Mutation_p.F592L|SYTL5_ENST00000456733.2_Missense_Mutation_p.F614L|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	592	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.F592L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TAGAAGTGTTCATCAAAGAGG	0.398																																					p.F592L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1776A	X						.						112.0	96.0	102.0					X																	37981403		2202	4300	6502	37866347	SO:0001583	missense	94122	exon15				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1776C>A	X.37:g.37981403C>A	ENSP00000350657:p.Phe592Leu		37866347	NM_138780	A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	3.854	-0.031163	0.07543	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.68624	-0.34;-0.34;-0.34	5.44	3.57	0.40892	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.307265	0.36703	N	0.002455	T	0.34919	0.0914	N	0.01761	-0.735	0.28709	N	0.903632	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.18085	-1.0348	10	0.07990	T	0.79	-13.4634	11.8354	0.52321	0.0:0.7908:0.1322:0.0771	.	614;592	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	L	592;592;614	ENSP00000297875:F592L;ENSP00000350657:F592L;ENSP00000395220:F614L	ENSP00000297875:F592L	F	+	3	2	SYTL5	37866347	0.957000	0.32711	0.977000	0.42913	0.989000	0.77384	0.077000	0.14738	1.067000	0.40740	0.600000	0.82982	TTC		0.398	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
OTC	5009	broad.mit.edu	37	X	38240672	38240672	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:38240672G>A	ENST00000039007.4	+	4	528	c.376G>A	c.(376-378)Gac>Aac	p.D126N	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	126			D -> G (in OTCD; 0.9% of wild-type activity; early onset). {ECO:0000269|PubMed:8081398}.		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.D126N(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)	AAGTCTCACGGACACGGCCCG	0.333																																					p.D126N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	X	GRCh37	CD063577	OTC	D		.						71.0	67.0	69.0					X																	38240672		2202	4300	6502	38125616	SO:0001583	missense	5009	exon4			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.376G>A	X.37:g.38240672G>A	ENSP00000039007:p.Asp126Asn		38125616	NM_000531	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742479	0.89573	.	.	ENSG00000036473	ENST00000039007	D	0.99541	-6.12	5.91	5.91	0.95273	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.041708	0.85682	D	0.000000	D	0.99829	0.9923	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96731	0.9539	10	0.87932	D	0	4.6966	17.9083	0.88926	0.0:0.0:1.0:0.0	.	126	P00480	OTC_HUMAN	N	126	ENSP00000039007:D126N	ENSP00000039007:D126N	D	+	1	0	OTC	38125616	1.000000	0.71417	0.946000	0.38457	0.911000	0.54048	6.848000	0.75409	2.504000	0.84457	0.600000	0.82982	GAC		0.333	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
USP9X	8239	broad.mit.edu	37	X	41027380	41027380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:41027380C>T	ENST00000324545.8	+	18	3178	c.2545C>T	c.(2545-2547)Cga>Tga	p.R849*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R849*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	849					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.R842*(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						GGAAGCTGTTCGAATGGTTCG	0.378																																					p.R849X	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2545T	X						.						156.0	142.0	146.0					X																	41027380		2092	4252	6344	40912324	SO:0001587	stop_gained	8239	exon18			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.2545C>T	X.37:g.41027380C>T	ENSP00000316357:p.Arg849*		40912324	NM_001039590	O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	40	8.213276	0.98709	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7428	0.69469	0.1448:0.8552:0.0:0.0	.	.	.	.	X	849	.	ENSP00000316357:R849X	R	+	1	2	USP9X	40912324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.528000	0.35985	2.240000	0.73641	0.506000	0.49869	CGA		0.378	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
USP9X	8239	broad.mit.edu	37	X	41073882	41073882	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:41073882C>A	ENST00000324545.8	+	34	5884	c.5251C>A	c.(5251-5253)Ctt>Att	p.L1751I	USP9X_ENST00000378308.2_Missense_Mutation_p.L1751I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1751	USP.				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.L1744I(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						CCAAAATCTTCTTGATTCTTT	0.333																																					p.L1751I	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5251A	X						.						60.0	61.0	61.0					X																	41073882		2172	4282	6454	40958826	SO:0001583	missense	8239	exon34			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.5251C>A	X.37:g.41073882C>A	ENSP00000316357:p.Leu1751Ile		40958826	NM_001039590	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836418	0.32421	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.05649	3.41;3.41	5.63	4.76	0.60689	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	L	0.31526	0.94	0.47819	D	0.999524	B;B	0.25772	0.134;0.098	B;B	0.27076	0.046;0.076	T	0.33904	-0.9850	10	0.20046	T	0.44	.	15.7426	0.77914	0.0:0.8669:0.1331:0.0	.	1751;1751	Q93008-1;Q93008	.;USP9X_HUMAN	I	1751	ENSP00000367558:L1751I;ENSP00000316357:L1751I	ENSP00000316357:L1751I	L	+	1	0	USP9X	40958826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.464000	0.60134	1.140000	0.42260	-0.226000	0.12346	CTT		0.333	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
DDX3X	1654	broad.mit.edu	37	X	41204756	41204756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:41204756G>T	ENST00000399959.2	+	12	2125	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	DDX3X_ENST00000441189.2_Intron|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Nonsense_Mutation_p.E408*	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	424	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.E424*(2)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTGGGTGGAAGAATCAGACAA	0.393										HNSCC(61;0.18)																											p.E424X												.	.	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G1270T	X						.						97.0	92.0	94.0					X																	41204756		2079	4224	6303	41089700	SO:0001587	stop_gained	1654	exon12			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1270G>T	X.37:g.41204756G>T	ENSP00000382840:p.Glu424*		41089700	NM_001356	A8K538|B4E3E8|O15536	Nonsense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	g	46	12.480769	0.99671	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	.	.	.	5.13	5.13	0.70059	.	0.137020	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.0384	17.8461	0.88730	0.0:0.0:1.0:0.0	.	.	.	.	X	424;408	.	ENSP00000382840:E424X	E	+	1	0	DDX3X	41089700	1.000000	0.71417	0.984000	0.44739	0.970000	0.65996	9.737000	0.98831	2.146000	0.66826	0.522000	0.50473	GAA		0.393	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	
CASK	8573	broad.mit.edu	37	X	41485879	41485879	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:41485879G>T	ENST00000378163.1	-	10	1467	c.993C>A	c.(991-993)ttC>ttA	p.F331L	CASK_ENST00000442742.2_Missense_Mutation_p.F331L|CASK_ENST00000421587.2_Missense_Mutation_p.F331L|CASK_ENST00000378158.1_Missense_Mutation_p.F331L|CASK_ENST00000361962.4_Missense_Mutation_p.F331L|CASK_ENST00000318588.9_Missense_Mutation_p.F331L|CASK_ENST00000378154.1_Missense_Mutation_p.F331L|CASK_ENST00000378166.4_Missense_Mutation_p.F331L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	331					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GGTCTTCGGAGAAATCTGGTA	0.413																																					p.F331L	NSCLC(42;104 1086 3090 27189 35040)											.	.	0			c.C993A	X						.						80.0	71.0	74.0					X																	41485879		2203	4300	6503	41370823	SO:0001583	missense	8573	exon10			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.993C>A	X.37:g.41485879G>T	ENSP00000367405:p.Phe331Leu		41370823	NM_001126054	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	G	11.39	1.625716	0.28889	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.66815	-0.2;-0.22;-0.23;-0.21;-0.22;-0.21;-0.21;-0.23	5.86	2.2	0.27929	.	0.110735	0.41396	N	0.000894	T	0.50086	0.1595	L	0.43152	1.355	0.58432	D	0.999998	B;B;B;B	0.30326	0.0;0.0;0.005;0.276	B;B;B;B	0.25614	0.001;0.001;0.004;0.062	T	0.28586	-1.0039	10	0.11182	T	0.66	.	9.059	0.36423	0.4371:0.0:0.5629:0.0	.	331;331;331;331	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	L	331	ENSP00000400526:F331L;ENSP00000322727:F331L;ENSP00000354641:F331L;ENSP00000367405:F331L;ENSP00000367400:F331L;ENSP00000367408:F331L;ENSP00000398007:F331L;ENSP00000367396:F331L	ENSP00000322727:F331L	F	-	3	2	CASK	41370823	1.000000	0.71417	0.987000	0.45799	0.948000	0.59901	2.660000	0.46749	0.064000	0.16427	-0.198000	0.12761	TTC		0.413	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	
CXorf36	79742	broad.mit.edu	37	X	45011148	45011148	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:45011148T>G	ENST00000398000.2	-	5	1125	c.1051A>C	c.(1051-1053)Agc>Cgc	p.S351R	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	351						extracellular region (GO:0005576)		p.S351R(1)		endometrium(1)|large_intestine(2)|lung(4)	7						TCAGAGATGCTTTCGCAGGAG	0.557																																					p.S351R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1051C	X						.						24.0	25.0	25.0					X																	45011148		1568	3581	5149	44896092	SO:0001583	missense	79742	exon5			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.1051A>C	X.37:g.45011148T>G	ENSP00000381086:p.Ser351Arg		44896092	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	T	7.234	0.599946	0.13939	.	.	ENSG00000147113	ENST00000398000	T	0.30182	1.54	5.17	-0.25	0.13007	.	0.569184	0.17063	N	0.188498	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.26195	0.144	B	0.24269	0.052	T	0.26538	-1.0100	10	0.13108	T	0.6	.	4.05	0.09791	0.4505:0.1698:0.0:0.3797	.	351	Q9H7Y0	CX036_HUMAN	R	351	ENSP00000381086:S351R	ENSP00000381086:S351R	S	-	1	0	CXorf36	44896092	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.802000	0.04545	0.162000	0.19483	0.481000	0.45027	AGC		0.557	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689	
RP2	6102	broad.mit.edu	37	X	46712984	46712984	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:46712984G>A	ENST00000218340.3	+	2	337	c.176G>A	c.(175-177)gGa>gAa	p.G59E		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	59	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)	p.G59E(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						ACGGTAGCAGGACAACAGTTT	0.408																																					p.G59E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	X						.						102.0	92.0	95.0					X																	46712984		2203	4300	6503	46597928	SO:0001583	missense	6102	exon2			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.176G>A	X.37:g.46712984G>A	ENSP00000218340:p.Gly59Glu		46597928	NM_006915	Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	37	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369696	0.82573	.	.	ENSG00000102218	ENST00000218340	D	0.94457	-3.43	5.38	5.38	0.77491	Tubulin binding cofactor C (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98583	1.0651	10	0.59425	D	0.04	-16.41	18.2026	0.89843	0.0:0.0:1.0:0.0	.	59	O75695	XRP2_HUMAN	E	59	ENSP00000218340:G59E	ENSP00000218340:G59E	G	+	2	0	RP2	46597928	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.325000	0.96381	2.235000	0.73313	0.513000	0.50165	GGA		0.408	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915	
USP11	8237	broad.mit.edu	37	X	47098812	47098812	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:47098812G>A	ENST00000218348.3	+	3	478	c.478G>A	c.(478-480)Gca>Aca	p.A160T	USP11_ENST00000377107.2_Missense_Mutation_p.A117T	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	160	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.			A -> R (in Ref. 3; BAC20463). {ECO:0000305}.	protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.A160T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCTGCTCCCAGCAGCTGCTTG	0.577																																					p.A160T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G478A	X						.						60.0	49.0	53.0					X																	47098812		2203	4300	6503	46983756	SO:0001583	missense	8237	exon3			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.478G>A	X.37:g.47098812G>A	ENSP00000218348:p.Ala160Thr		46983756	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	6.731	0.503577	0.12822	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.20598	2.07;2.06	5.61	3.81	0.43845	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.654214	0.15251	N	0.272323	T	0.12944	0.0314	L	0.37750	1.13	0.39918	D	0.974123	B	0.18461	0.028	B	0.23018	0.043	T	0.12400	-1.0549	10	0.02654	T	1	-1.8117	5.6453	0.17586	0.1677:0.0:0.6728:0.1595	.	160	P51784	UBP11_HUMAN	T	117;160	ENSP00000366311:A117T;ENSP00000218348:A160T	ENSP00000218348:A160T	A	+	1	0	USP11	46983756	0.682000	0.27624	0.887000	0.34795	0.954000	0.61252	2.088000	0.41663	0.517000	0.28361	0.600000	0.82982	GCA		0.577	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
SYN1	6853	broad.mit.edu	37	X	47464419	47464419	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:47464419G>T	ENST00000295987.7	-	5	856	c.732C>A	c.(730-732)ttC>ttA	p.F244L	SYN1_ENST00000340666.4_Missense_Mutation_p.F244L	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	244	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.F244L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CAATTAGAGGGAATTCTTCTG	0.453																																					p.F244L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C732A	X						.						131.0	107.0	115.0					X																	47464419		2203	4300	6503	47349363	SO:0001583	missense	6853	exon5				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.732C>A	X.37:g.47464419G>T	ENSP00000295987:p.Phe244Leu		47349363	NM_133499	B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562502	0.65538	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.42513	1.46;0.97	4.88	1.57	0.23409	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.66829	0.2829	M	0.93462	3.42	0.53688	D	0.99997	D;D	0.76494	0.977;0.999	P;D	0.73708	0.791;0.981	T	0.67647	-0.5617	10	0.87932	D	0	-1.8639	7.0491	0.25063	0.3946:0.0:0.6054:0.0	.	244;244	P17600;P17600-2	SYN1_HUMAN;.	L	244	ENSP00000295987:F244L;ENSP00000343206:F244L	ENSP00000295987:F244L	F	-	3	2	SYN1	47349363	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.318000	0.33643	0.420000	0.25954	-0.296000	0.09543	TTC		0.453	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950	
ZNF81	347344	broad.mit.edu	37	X	47775430	47775430	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:47775430G>T	ENST00000376954.1	+	6	1753	c.1385G>T	c.(1384-1386)aGa>aTa	p.R462I	ZNF81_ENST00000338637.7_Missense_Mutation_p.R462I			P51508	ZNF81_HUMAN	zinc finger protein 81	462					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.R462I(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GCACATCAAAGAATTCATACT	0.438																																					p.R462I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1385T	X						.						47.0	45.0	45.0					X																	47775430		2203	4299	6502	47660374	SO:0001583	missense	347344	exon5			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1385G>T	X.37:g.47775430G>T	ENSP00000366153:p.Arg462Ile		47660374	NM_007137	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950460	0.53186	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.24908	1.83;1.83	4.17	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000330	T	0.47728	0.1461	M	0.70275	2.135	0.40692	D	0.982406	D	0.76494	0.999	D	0.69654	0.965	T	0.52968	-0.8504	10	0.72032	D	0.01	.	13.4325	0.61064	0.0:0.0:1.0:0.0	.	462	P51508	ZNF81_HUMAN	I	462	ENSP00000366153:R462I;ENSP00000341151:R462I	ENSP00000341151:R462I	R	+	2	0	ZNF81	47660374	0.088000	0.21588	1.000000	0.80357	0.998000	0.95712	1.768000	0.38511	2.335000	0.79485	0.600000	0.82982	AGA		0.438	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
ZNF182	7569	broad.mit.edu	37	X	47836221	47836221	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:47836221C>A	ENST00000396965.1	-	7	1615	c.1265G>T	c.(1264-1266)aGa>aTa	p.R422I	ZNF182_ENST00000376943.3_Missense_Mutation_p.R403I|ZNF182_ENST00000305127.6_Missense_Mutation_p.R422I	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	422					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.R422I(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGTATGAGTTCTTTGATGCAC	0.413																																					p.R422I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1265T	X						.						81.0	73.0	76.0					X																	47836221		2203	4300	6503	47721165	SO:0001583	missense	7569	exon7			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1265G>T	X.37:g.47836221C>A	ENSP00000380165:p.Arg422Ile		47721165	NM_006962	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728362	0.48833	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.24908	1.83;1.83;1.83	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39517	0.1081	L	0.48218	1.51	0.45284	D	0.998289	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.987	T	0.21999	-1.0229	9	0.87932	D	0	.	7.3203	0.26523	0.0:0.8784:0.0:0.1216	.	402;403;422	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	I	403;422;422	ENSP00000366142:R403I;ENSP00000380165:R422I;ENSP00000306351:R422I	ENSP00000306351:R422I	R	-	2	0	ZNF182	47721165	0.002000	0.14202	0.992000	0.48379	0.983000	0.72400	1.859000	0.39418	2.128000	0.65567	0.422000	0.28245	AGA		0.413	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
ZNF630	57232	broad.mit.edu	37	X	47918547	47918547	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:47918547C>T	ENST00000409324.3	-	5	1510	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.E414E|ZNF630_ENST00000276054.4_Silent_p.E304E	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	428					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.E428E(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TATAGGGCTTCTCTCCAGTAT	0.428																																					p.E414E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1242A	X						.						66.0	56.0	59.0					X																	47918547		2194	4288	6482	47803491	SO:0001819	synonymous_variant	57232	exon5			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1284G>A	X.37:g.47918547C>T			47803491	NM_001190255	F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	CCDS35237.2																																																																																				0.428	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	
ZNF630	57232	broad.mit.edu	37	X	47918983	47918983	+	Missense_Mutation	SNP	C	C	T	rs201458224		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:47918983C>T	ENST00000409324.3	-	5	1074	c.848G>A	c.(847-849)aGa>aAa	p.R283K	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.R269K|ZNF630_ENST00000276054.4_Missense_Mutation_p.R159K	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	283					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.R283K(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGTATGAATTCTTTGATGTAT	0.393																																					p.R269K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G806A	X						.						90.0	81.0	84.0					X																	47918983		2194	4290	6484	47803927	SO:0001583	missense	57232	exon5			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.848G>A	X.37:g.47918983C>T	ENSP00000386393:p.Arg283Lys		47803927	NM_001190255	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	5.401	0.259112	0.10239	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.18338	2.22;2.22;2.22	2.16	-0.0027	0.14028	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08846	0.0219	L	0.31664	0.95	0.09310	N	1	P	0.39131	0.661	B	0.33750	0.169	T	0.22765	-1.0207	9	0.51188	T	0.08	.	0.803	0.01078	0.2354:0.3676:0.2311:0.1659	.	283	Q2M218	ZN630_HUMAN	K	269;159;283	ENSP00000393163:R269K;ENSP00000354683:R159K;ENSP00000386393:R283K	ENSP00000354683:R159K	R	-	2	0	ZNF630	47803927	0.000000	0.05858	0.050000	0.19076	0.339000	0.28857	-0.320000	0.08028	-0.253000	0.09514	-0.268000	0.10319	AGA		0.393	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	
SSX5	6758	broad.mit.edu	37	X	48047120	48047120	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:48047120T>G	ENST00000376923.1	-	6	513	c.514A>C	c.(514-516)Aag>Cag	p.K172Q	SSX5_ENST00000347757.1_Missense_Mutation_p.K172Q|SSX5_ENST00000311798.1_Missense_Mutation_p.K213Q			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.K213Q(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ACCAGTTGCTTTCTCTCACGC	0.502																																					p.K172Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A514C	X						.						333.0	284.0	300.0					X																	48047120		2203	4299	6502	47932064	SO:0001583	missense	6758	exon7			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.514A>C	X.37:g.48047120T>G	ENSP00000366122:p.Lys172Gln		47932064	NM_175723	Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	12.15	1.852773	0.32699	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	T;T;T;T	0.46819	2.21;2.14;2.14;0.86	1.67	1.67	0.24075	SSXRD motif (1);	0.293715	0.24674	N	0.036535	T	0.57388	0.2050	L	0.61218	1.895	0.09310	N	1	D;D	0.63046	0.992;0.99	D;P	0.70487	0.969;0.897	T	0.41324	-0.9515	10	0.87932	D	0	.	4.9414	0.13967	0.0:0.0:0.0:1.0	.	172;213	O60225;O60225-2	SSX5_HUMAN;.	Q	213;172;172;112	ENSP00000312415:K213Q;ENSP00000366122:K172Q;ENSP00000290558:K172Q;ENSP00000385051:K112Q	ENSP00000312415:K213Q	K	-	1	0	SSX5	47932064	0.104000	0.21937	0.003000	0.11579	0.050000	0.14768	2.330000	0.43885	0.926000	0.37118	0.151000	0.16131	AAG		0.502	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015	
GATA1	2623	broad.mit.edu	37	X	48652311	48652311	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:48652311G>A	ENST00000376670.3	+	6	1093	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	328					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.E328K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AGGAGCAGCCGAAGGACCAGC	0.602			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																p.E328K	Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G982A	X						.						37.0	33.0	34.0					X																	48652311		2203	4299	6502	48537255	SO:0001583	missense	2623	exon6			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.982G>A	X.37:g.48652311G>A	ENSP00000365858:p.Glu328Lys		48537255	NM_002049	Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.040733	0.55003	.	.	ENSG00000102145	ENST00000376670	D	0.97430	-4.38	3.74	3.74	0.42951	.	1.094420	0.07171	U	0.852282	D	0.90293	0.6964	N	0.14661	0.345	0.80722	D	1	D	0.57571	0.98	B	0.36030	0.216	D	0.85085	0.0948	10	0.05959	T	0.93	-5.4559	10.7938	0.46449	0.0:0.0:1.0:0.0	.	328	P15976	GATA1_HUMAN	K	328	ENSP00000365858:E328K	ENSP00000365858:E328K	E	+	1	0	GATA1	48537255	1.000000	0.71417	0.719000	0.30619	0.743000	0.42351	4.308000	0.59129	1.812000	0.52913	0.365000	0.22127	GAA		0.602	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049	
KCND1	3750	broad.mit.edu	37	X	48825777	48825777	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:48825777C>T	ENST00000218176.3	-	1	2199	c.902G>A	c.(901-903)cGc>cAc	p.R301H	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	301					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.R301H(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CTTGAAGATGCGAAACACCCG	0.557																																					p.R301H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G902A	X						.						91.0	69.0	77.0					X																	48825777		2203	4300	6503	48710721	SO:0001583	missense	3750	exon1			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.902G>A	X.37:g.48825777C>T	ENSP00000218176:p.Arg301His		48710721	NM_004979	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726164	0.89298	.	.	ENSG00000102057	ENST00000218176	D	0.99591	-6.24	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96345	0.9254	10	0.87932	D	0	.	17.066	0.86559	0.0:1.0:0.0:0.0	.	301	Q9NSA2	KCND1_HUMAN	H	301	ENSP00000218176:R301H	ENSP00000218176:R301H	R	-	2	0	KCND1	48710721	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.090000	0.71397	2.294000	0.77228	0.594000	0.82650	CGC		0.557	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
WDR45	11152	broad.mit.edu	37	X	48932852	48932852	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:48932852A>G	ENST00000376372.3	-	10	1097	c.916T>C	c.(916-918)Tca>Cca	p.S306P	WDR45_ENST00000396681.4_Missense_Mutation_p.S292P|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000485908.1_Missense_Mutation_p.S271P|WDR45_ENST00000376368.2_Missense_Mutation_p.S307P|WDR45_ENST00000356463.3_Missense_Mutation_p.S307P|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000491199.1_5'Flank|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.S317P	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	306					autophagy (GO:0006914)|cell death (GO:0008219)			p.S307P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						ATGCAAGCTGACTCAGCAGGC	0.597																																					p.S306P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T916C	X						.						61.0	51.0	54.0					X																	48932852		2203	4300	6503	48819796	SO:0001583	missense	11152	exon10			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.916T>C	X.37:g.48932852A>G	ENSP00000365551:p.Ser306Pro		48819796	NM_001029896	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.30|14.30	2.493321|2.493321	0.44352|0.44352	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000486337;ENST00000367375	T;T;T;T;T;T|.	0.76839|.	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.282927|.	0.34580|.	N|.	0.003859|.	T|T	0.33962|0.33962	0.0881|0.0881	N|N	0.05031|0.05031	-0.125|-0.125	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.35383|.	0.24;0.498;0.08;0.0|.	B;B;B;B|.	0.31337|.	0.128;0.072;0.081;0.001|.	T|T	0.15321|0.15321	-1.0441|-1.0441	10|5	0.33141|.	T|.	0.24|.	-1.847|-1.847	11.8082|11.8082	0.52167|0.52167	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	317;271;307;306|.	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;WIPI4_HUMAN|.	P|A	306;317;307;271;307;292|30;232	ENSP00000365551:S306P;ENSP00000365543:S317P;ENSP00000348848:S307P;ENSP00000419897:S271P;ENSP00000365546:S307P;ENSP00000379913:S292P|.	ENSP00000365543:S317P|.	S|V	-|-	1|2	0|0	WDR45|WDR45	48819796|48819796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.086000|5.086000	0.64474|0.64474	1.582000|1.582000	0.49881|0.49881	0.334000|0.334000	0.21626|0.21626	TCA|GTC		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075	
PLP2	5355	broad.mit.edu	37	X	49028407	49028407	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:49028407G>A	ENST00000376327.5	+	1	135	c.60G>A	c.(58-60)tcG>tcA	p.S20S	PLP2_ENST00000376322.3_Silent_p.S20S	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	20	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)	p.S20S(1)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CCAACTTCTCGCGCACTCGAA	0.637																																					p.S20S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G60A	X						.						47.0	36.0	39.0					X																	49028407		2203	4299	6502	48915351	SO:0001819	synonymous_variant	5355	exon1			L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.60G>A	X.37:g.49028407G>A			48915351	NM_002668	A6NDT7|Q32MM8	Silent	SNP	ENST00000376327.5	37	CCDS14319.1																																																																																				0.637	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1	NM_002668	
CACNA1F	778	broad.mit.edu	37	X	49071906	49071906	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:49071906T>G	ENST00000376265.2	-	28	3428	c.3367A>C	c.(3367-3369)Atc>Ctc	p.I1123L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.I1112L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.I1058L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1123	Dihydropyridine binding. {ECO:0000250}.|Poly-Ile.				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.I1123L(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)	AACGCAATGATGATGATGTAG	0.478																																					p.I1123L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3367C	X						.						142.0	103.0	116.0					X																	49071906		2203	4300	6503	48958850	SO:0001583	missense	778	exon28			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.3367A>C	X.37:g.49071906T>G	ENSP00000365441:p.Ile1123Leu		48958850	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	15.94	2.981668	0.53827	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98221	-4.8;-4.8;-4.8	5.14	3.98	0.46160	Ion transport (1);	0.313169	0.32952	N	0.005443	D	0.93396	0.7894	N	0.11789	0.175	0.30610	N	0.75964	P;P	0.38597	0.639;0.55	B;B	0.36666	0.182;0.23	D	0.90903	0.4770	10	0.37606	T	0.19	.	8.978	0.35948	0.0:0.091:0.0:0.909	.	1112;1123	F5CIQ9;O60840	.;CAC1F_HUMAN	L	1058;1112;1123	ENSP00000365427:I1058L;ENSP00000321618:I1112L;ENSP00000365441:I1123L	ENSP00000321618:I1112L	I	-	1	0	CACNA1F	48958850	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.817000	0.27281	0.620000	0.30215	0.486000	0.48141	ATC		0.478	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
CACNA1F	778	broad.mit.edu	37	X	49079525	49079525	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:49079525G>T	ENST00000376265.2	-	15	2042	c.1981C>A	c.(1981-1983)Ctt>Att	p.L661I	CACNA1F_ENST00000323022.5_Missense_Mutation_p.L650I|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000376251.1_Missense_Mutation_p.L596I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	661	Poly-Leu.				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.L661I(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)	AAGAGGAGAAGCAGCAAGGAT	0.527																																					p.L661I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1981A	X						.						122.0	86.0	98.0					X																	49079525		2202	4299	6501	48966469	SO:0001583	missense	778	exon15			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.1981C>A	X.37:g.49079525G>T	ENSP00000365441:p.Leu661Ile		48966469	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.342896	0.61073	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98862	-5.19;-5.19;-5.19	3.97	3.97	0.46021	Ion transport (1);	0.150752	0.46145	D	0.000314	D	0.98972	0.9650	M	0.80183	2.485	0.43835	D	0.996412	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	D	0.99544	1.0964	10	0.87932	D	0	.	14.2239	0.65845	0.0:0.0:1.0:0.0	.	650;661	F5CIQ9;O60840	.;CAC1F_HUMAN	I	596;650;661	ENSP00000365427:L596I;ENSP00000321618:L650I;ENSP00000365441:L661I	ENSP00000321618:L650I	L	-	1	0	CACNA1F	48966469	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.577000	0.98196	1.843000	0.53566	0.411000	0.27672	CTT		0.527	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
PPP1R3F	89801	broad.mit.edu	37	X	49138517	49138517	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:49138517G>A	ENST00000055335.6	+	3	1150	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.M49I|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.M32I|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.M32I|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.M32I	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	378					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.M378I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GGCCCCAGATGACACTTCAGG	0.587																																					p.M378I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1134A	X						.						100.0	69.0	79.0					X																	49138517		2203	4300	6503	49025461	SO:0001583	missense	89801	exon3				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.1134G>A	X.37:g.49138517G>A	ENSP00000055335:p.Met378Ile		49025461	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457157	0.63401	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.55930	0.92;0.92;0.49;0.92;0.92	3.81	3.81	0.43845	.	0.000000	0.56097	D	0.000030	T	0.54743	0.1877	L	0.27053	0.805	0.29011	N	0.886862	P;P;P	0.52577	0.954;0.954;0.92	D;D;B	0.63597	0.916;0.916;0.344	T	0.50004	-0.8878	10	0.56958	D	0.05	-6.7355	10.1751	0.42933	0.0:0.0:1.0:0.0	.	49;63;378	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	I	32;49;378;32;32	ENSP00000420687:M32I;ENSP00000415548:M49I;ENSP00000055335:M378I;ENSP00000417535:M32I;ENSP00000365359:M32I	ENSP00000055335:M378I	M	+	3	0	PPP1R3F	49025461	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.817000	0.55668	2.155000	0.67459	0.529000	0.55759	ATG		0.587	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
PPP1R3F	89801	broad.mit.edu	37	X	49142863	49142863	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:49142863G>A	ENST00000055335.6	+	4	1727	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E242K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E225K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E225K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E225K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	571					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.E571K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAAGGACACCGAAGACCCTGA	0.642																																					p.E571K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1711A	X						.						27.0	26.0	26.0					X																	49142863		2203	4300	6503	49029807	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.1711G>A	X.37:g.49142863G>A	ENSP00000055335:p.Glu571Lys		49029807	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369082	0.24771	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.59224	0.69;0.69;0.28;0.69;0.69	5.55	3.76	0.43208	.	0.104002	0.42053	D	0.000780	T	0.30823	0.0777	N	0.19112	0.55	0.09310	N	1	P;P;B	0.42161	0.772;0.772;0.279	B;B;B	0.28385	0.089;0.089;0.03	T	0.17745	-1.0359	10	0.30078	T	0.28	-18.477	7.2823	0.26318	0.1814:0.0:0.8186:0.0	.	242;256;571	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	K	225;242;571;225;225	ENSP00000420687:E225K;ENSP00000415548:E242K;ENSP00000055335:E571K;ENSP00000417535:E225K;ENSP00000365359:E225K	ENSP00000055335:E571K	E	+	1	0	PPP1R3F	49029807	0.982000	0.34865	0.681000	0.30009	0.065000	0.16274	3.331000	0.52075	2.321000	0.78463	0.513000	0.50165	GAA		0.642	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
DGKK	139189	broad.mit.edu	37	X	50123029	50123029	+	RNA	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:50123029C>A	ENST00000376025.2	-	0	2763							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.E698*(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCAAAAGTTCTTTGGTTCCC	0.438																																					p.E902X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2704T	X						.						148.0	128.0	135.0					X																	50123029		1857	4103	5960	50139769			139189	exon19			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50123029C>A			50139769	NM_001013742	B2RP91	Nonsense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.438	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
DGKK	139189	broad.mit.edu	37	X	50130604	50130604	+	RNA	SNP	G	G	A	rs375028509		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:50130604G>A	ENST00000376025.2	-	0	2125							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A485V(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTGACCCCAGGCCTTTACAAT	0.413																																					p.A689V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2066T	X						.	G	VAL/ALA	0,3186		0,0,1308,570	99.0	81.0	86.0		2066	4.2	1.0	X		86	1,6407		0,1,2310,1786	no	missense	DGKK	NM_001013742.2	64	0,1,3618,2356	AA,AG,GG,G		0.0156,0.0,0.0104	probably-damaging	689/1272	50130604	1,9593	1878	4097	5975	50147344			139189	exon14			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50130604G>A			50147344	NM_001013742	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.413	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
DGKK	139189	broad.mit.edu	37	X	50146548	50146548	+	RNA	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:50146548C>T	ENST00000376025.2	-	0	1185							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.D172N(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACTTGCAGTCTTTGCTTGCT	0.458																																					p.D376N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1126A	X						.						138.0	135.0	136.0					X																	50146548		1960	4156	6116	50163288			139189	exon6			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50146548C>T			50163288	NM_001013742	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
SHROOM4	57477	broad.mit.edu	37	X	50376647	50376647	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:50376647T>C	ENST00000289292.7	-	4	2709	c.2426A>G	c.(2425-2427)cAa>cGa	p.Q809R	SHROOM4_ENST00000376020.2_Missense_Mutation_p.Q809R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q693R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	809					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.Q809R(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)					CTGGAAGTTTTGGTCTATAGG	0.443																																					p.Q809R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2426G	X						.						131.0	115.0	121.0					X																	50376647		2203	4300	6503	50393387	SO:0001583	missense	57477	exon4			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.2426A>G	X.37:g.50376647T>C	ENSP00000289292:p.Gln809Arg		50393387	NM_020717	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	9.734	1.163162	0.21538	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88509	-2.39;-2.39;-2.39	5.92	-1.9	0.07665	.	0.496629	0.19673	N	0.108689	T	0.76154	0.3948	L	0.27053	0.805	0.19775	N	0.999955	B	0.02656	0.0	B	0.04013	0.001	T	0.59059	-0.7525	10	0.06494	T	0.89	.	11.1775	0.48607	0.0:0.0709:0.5184:0.4107	.	809	Q9ULL8	SHRM4_HUMAN	R	809;809;693	ENSP00000289292:Q809R;ENSP00000365188:Q809R;ENSP00000421450:Q693R	ENSP00000289292:Q809R	Q	-	2	0	SHROOM4	50393387	0.753000	0.28349	0.804000	0.32291	0.957000	0.61999	-0.141000	0.10327	-0.253000	0.09514	0.486000	0.48141	CAA		0.443	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
FAM120C	54954	broad.mit.edu	37	X	54099659	54099659	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:54099659A>G	ENST00000375180.2	-	16	3154	c.3098T>C	c.(3097-3099)gTa>gCa	p.V1033A	FAM120C_ENST00000328235.4_Nonstop_Mutation_p.*896Q	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1033							poly(A) RNA binding (GO:0044822)	p.V1033A(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTTTCCATTTACCTGGGAGCG	0.463																																					p.V1033A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3098C	X						.						125.0	96.0	106.0					X																	54099659		2203	4300	6503	54116384	SO:0001583	missense	54954	exon16			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3098T>C	X.37:g.54099659A>G	ENSP00000364324:p.Val1033Ala		54116384	NM_017848	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.110|9.110	1.006353|1.006353	0.19199|0.19199	.|.	.|.	ENSG00000184083|ENSG00000184083	ENST00000375180|ENST00000328235	T|.	0.25579|.	1.79|.	5.27|5.27	4.1|4.1	0.47936|0.47936	.|.	1.197230|.	0.05964|.	N|.	0.641124|.	T|.	0.40498|.	0.1119|.	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B|.	0.26081|.	0.141|.	B|.	0.29524|.	0.103|.	T|.	0.12372|.	-1.0550|.	10|.	0.11182|.	T|.	0.66|.	-0.1943|-0.1943	9.5044|9.5044	0.39037|0.39037	0.9135:0.0:0.0865:0.0|0.9135:0.0:0.0865:0.0	.|.	1033|.	Q9NX05|.	F120C_HUMAN|.	A|Q	1033|896	ENSP00000364324:V1033A|.	ENSP00000364324:V1033A|.	V|X	-|-	2|1	0|0	FAM120C|FAM120C	54116384|54116384	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.290000|0.290000	0.27261|0.27261	5.067000|5.067000	0.64357|0.64357	0.661000|0.661000	0.30985|0.30985	-0.509000|-0.509000	0.04479|0.04479	GTA|TAA		0.463	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848	
WNK3	65267	broad.mit.edu	37	X	54324822	54324822	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:54324822G>A	ENST00000375159.2	-	6	1183	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	WNK3_ENST00000354646.2_Missense_Mutation_p.S395F|WNK3_ENST00000375169.3_Missense_Mutation_p.S395F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.S395F(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						GTCCCTGATAGACAACCTAAT	0.328																																					p.S395F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1184T	X						.						68.0	62.0	64.0					X																	54324822		2203	4300	6503	54341547	SO:0001583	missense	65267	exon7			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.1184C>T	X.37:g.54324822G>A	ENSP00000364301:p.Ser395Phe		54341547	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102431	0.76983	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.29142	1.58;1.58;1.58	4.93	4.93	0.64822	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	0.49305	D	0.000145	T	0.63283	0.2498	M	0.89785	3.06	0.53005	D	0.999968	D;D	0.89917	0.999;1.0	D;D	0.77004	0.981;0.989	T	0.73135	-0.4078	10	0.87932	D	0	-10.6361	16.0929	0.81102	0.0:0.0:1.0:0.0	.	395;395	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	395	ENSP00000364312:S395F;ENSP00000346667:S395F;ENSP00000364301:S395F	ENSP00000346667:S395F	S	-	2	0	WNK3	54341547	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.548000	0.60718	2.049000	0.60858	0.513000	0.50165	TCT		0.328	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
GNL3L	54552	broad.mit.edu	37	X	54578345	54578345	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:54578345G>T	ENST00000336470.4	+	12	1258	c.1119G>T	c.(1117-1119)aaG>aaT	p.K373N	GNL3L_ENST00000360845.2_Missense_Mutation_p.K373N	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	373					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K373N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGGGGAAGAAGAAGAAGGGAG	0.567																																					p.K373N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1119T	X						.						63.0	56.0	58.0					X																	54578345		2203	4300	6503	54595070	SO:0001583	missense	54552	exon12			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1119G>T	X.37:g.54578345G>T	ENSP00000338573:p.Lys373Asn		54595070	NM_019067		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080021	0.55753	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.17528	2.27;2.27	4.24	3.37	0.38596	GTP-binding protein, orthogonal bundle domain (1);	0.128163	0.53938	D	0.000055	T	0.13841	0.0335	N	0.22421	0.69	0.31495	N	0.665506	P	0.45569	0.861	P	0.45232	0.474	T	0.05750	-1.0866	10	0.87932	D	0	-10.1363	9.1358	0.36872	0.1129:0.0:0.8871:0.0	.	373	Q9NVN8	GNL3L_HUMAN	N	373	ENSP00000338573:K373N;ENSP00000354091:K373N	ENSP00000338573:K373N	K	+	3	2	GNL3L	54595070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.236000	0.51336	0.886000	0.36113	0.529000	0.55759	AAG		0.567	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067	
PFKFB1	5207	broad.mit.edu	37	X	54960258	54960258	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:54960258G>A	ENST00000375006.3	-	13	1422	c.1352C>T	c.(1351-1353)cCt>cTt	p.P451L	PFKFB1_ENST00000374992.2_Missense_Mutation_p.P251L|PFKFB1_ENST00000545676.1_Missense_Mutation_p.P386L	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	451	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.P451L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACCTACCTCAGGCTTCTCCCG	0.557																																					p.P451L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1352T	X						.						81.0	59.0	67.0					X																	54960258		2203	4299	6502	54976983	SO:0001583	missense	5207	exon13				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1352C>T	X.37:g.54960258G>A	ENSP00000364145:p.Pro451Leu		54976983	NM_002625	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530620	0.85706	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.85775	0.5775	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.997;0.996	D	0.90009	0.4120	9	0.87932	D	0	-6.7161	15.1116	0.72362	0.0:0.0:1.0:0.0	.	386;251;451	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	L	451;386;251	.	ENSP00000364131:P251L	P	-	2	0	PFKFB1	54976983	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.528000	0.98046	1.886000	0.54624	0.525000	0.51046	CCT		0.557	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
APEX2	27301	broad.mit.edu	37	X	55032956	55032956	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:55032956C>T	ENST00000374987.3	+	6	711	c.645C>T	c.(643-645)tgC>tgT	p.C215C	APEX2_ENST00000471758.1_3'UTR|ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	215					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)	p.C215C(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CCTAGGAATGCTTTGAAGAGG	0.507								Other BER factors																													p.C215C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645T	X						.						29.0	24.0	26.0					X																	55032956		2203	4299	6502	55049681	SO:0001819	synonymous_variant	27301	exon6			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.645C>T	X.37:g.55032956C>T			55049681	NM_014481	Q9Y5X7	Silent	SNP	ENST00000374987.3	37	CCDS14365.1																																																																																				0.507	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1		
APEX2	27301	broad.mit.edu	37	X	55033178	55033178	+	Silent	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:55033178C>A	ENST00000374987.3	+	6	933	c.867C>A	c.(865-867)acC>acA	p.T289T	APEX2_ENST00000471758.1_3'UTR|ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	289					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)	p.T289T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TCATAGACACCTTTCAGGCCT	0.602								Other BER factors																													p.T289T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867A	X						.						51.0	46.0	48.0					X																	55033178		2203	4300	6503	55049903	SO:0001819	synonymous_variant	27301	exon6			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.867C>A	X.37:g.55033178C>A			55049903	NM_014481	Q9Y5X7	Silent	SNP	ENST00000374987.3	37	CCDS14365.1																																																																																				0.602	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1		
ALAS2	212	broad.mit.edu	37	X	55046845	55046845	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:55046845G>A	ENST00000330807.5	-	6	868	c.731C>T	c.(730-732)gCt>gTt	p.A244V	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.A207V|ALAS2_ENST00000396198.3_Missense_Mutation_p.A231V	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	244					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.A244V(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GTGCAGCTCAGCCAGCTCCTG	0.577																																					p.A207V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	X						.						65.0	46.0	53.0					X																	55046845		2203	4300	6503	55063570	SO:0001583	missense	212	exon5				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.731C>T	X.37:g.55046845G>A	ENSP00000332369:p.Ala244Val		55063570	NM_001037967	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	g	32	5.181966	0.94885	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.94184	-3.37;-3.37;-3.37	5.01	5.01	0.66863	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	H	0.97659	4.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.73708	0.981;0.981;0.981	D	0.99636	1.0987	10	0.87932	D	0	-2.6701	16.5241	0.84326	0.0:0.0:1.0:0.0	.	207;231;244	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	V	244;231;207	ENSP00000332369:A244V;ENSP00000379501:A231V;ENSP00000337131:A207V	ENSP00000332369:A244V	A	-	2	0	ALAS2	55063570	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.689000	0.98673	2.245000	0.73994	0.519000	0.50382	GCT		0.577	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032	
PAGE2	203569	broad.mit.edu	37	X	55117814	55117814	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:55117814G>T	ENST00000374968.4	+	4	347	c.243G>T	c.(241-243)gaG>gaT	p.E81D	PAGE2_ENST00000374965.1_Missense_Mutation_p.E64D	NM_207339.2	NP_997222.1	Q7Z2X7	PAGE2_HUMAN	P antigen family, member 2 (prostate associated)	81								p.E81D(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TTAAGATAGAGGATGAGCCTG	0.393																																					p.E81D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G243T	X						.						102.0	110.0	108.0					X																	55117814		2171	4293	6464	55134539	SO:0001583	missense	203569	exon4			BC054022	CCDS14367.1	Xp11.22	2009-06-17			ENSG00000234068	ENSG00000234068			31804	protein-coding gene	gene with protein product		300738	"""G antigen, family C, 2"""	GAGEC2		9724777	Standard	NM_207339		Approved	MGC62094, PAGE-2, CT16.4		Q7Z2X7	OTTHUMG00000021648	ENST00000374968.4:c.243G>T	X.37:g.55117814G>T	ENSP00000364107:p.Glu81Asp		55134539	NM_207339	Q5JRK7|Q5JRK8	Missense_Mutation	SNP	ENST00000374968.4	37	CCDS14367.1	.	.	.	.	.	.	.	.	.	.	g	7.148	0.583251	0.13749	.	.	ENSG00000234068	ENST00000374968;ENST00000374965	T;T	0.10477	2.87;2.87	1.13	1.13	0.20643	.	.	.	.	.	T	0.11665	0.0284	L	0.43757	1.38	0.09310	N	1	P	0.51351	0.944	P	0.47626	0.552	T	0.19128	-1.0315	9	0.51188	T	0.08	.	5.3082	0.15815	0.0:0.0:1.0:0.0	.	81	Q7Z2X7	GGEE2_HUMAN	D	81;64	ENSP00000364107:E81D;ENSP00000364104:E64D	ENSP00000364104:E64D	E	+	3	2	PAGE2	55134539	0.003000	0.15002	0.002000	0.10522	0.052000	0.14988	0.462000	0.21956	0.862000	0.35528	0.287000	0.19450	GAG		0.393	PAGE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056857.1	NM_207339	
SPIN2B	474343	broad.mit.edu	37	X	57146366	57146366	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:57146366C>T	ENST00000333933.3	-	2	1007	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	SPIN2B_ENST00000374912.5_Missense_Mutation_p.E233K|SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000374910.3_Missense_Mutation_p.E132K|SPIN2B_ENST00000275988.5_Missense_Mutation_p.E233K|RP3-323P24.3_ENST00000439622.1_RNA	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	233					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)		p.E233K(1)		endometrium(3)|large_intestine(1)|skin(1)	5						GGTTTGGCTTCCACTTGGTGA	0.423																																					p.E233K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	X						.						172.0	142.0	152.0					X																	57146366		2203	4298	6501	57163091	SO:0001583	missense	474343	exon2			AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.697G>A	X.37:g.57146366C>T	ENSP00000335008:p.Glu233Lys		57163091	NM_001006681	Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	.	7.324	0.617479	0.14129	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933;ENST00000434397	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	2.37	1.49	0.22878	.	0.159165	0.43260	D	0.000595	T	0.27027	0.0662	L	0.35854	1.095	0.41226	D	0.98654	B	0.02656	0.0	B	0.08055	0.003	T	0.06058	-1.0848	10	0.22706	T	0.39	-8.7565	6.8736	0.24135	0.0:0.8416:0.0:0.1584	.	233	Q9BPZ2	SPI2B_HUMAN	K	233;233;132;233;233	ENSP00000275988:E233K;ENSP00000364047:E233K;ENSP00000364045:E132K;ENSP00000335008:E233K;ENSP00000404314:E233K	ENSP00000275988:E233K	E	-	1	0	SPIN2B	57163091	1.000000	0.71417	0.981000	0.43875	0.340000	0.28889	6.363000	0.73082	0.453000	0.26858	0.171000	0.16805	GAA		0.423	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681	
SPIN4	139886	broad.mit.edu	37	X	62570024	62570024	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:62570024C>T	ENST00000335144.3	-	1	1194	c.675G>A	c.(673-675)gcG>gcA	p.A225A	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Silent_p.A207A	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	225					gamete generation (GO:0007276)			p.A225A(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGATGGCTTCGCCACCACTT	0.428																																					p.A225A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G675A	X						.						82.0	80.0	81.0					X																	62570024		1947	4129	6076	62486749	SO:0001819	synonymous_variant	139886	exon1			AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.675G>A	X.37:g.62570024C>T			62486749	NM_001012968	B3KX90|Q5JUL2	Silent	SNP	ENST00000335144.3	37	CCDS43964.1																																																																																				0.428	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968	
ARHGEF9	23229	broad.mit.edu	37	X	62875563	62875563	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:62875563A>C	ENST00000253401.6	-	8	1911	c.1111T>G	c.(1111-1113)Tat>Gat	p.Y371D	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.Y318D|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.Y98D|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.Y369D|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.Y269D|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.Y350D	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	371	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y369D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						ACTACCTCATATTTATCCATG	0.448																																					p.Y269D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T805G	X						.						202.0	169.0	180.0					X																	62875563		2203	4300	6503	62792288	SO:0001583	missense	23229	exon7			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1111T>G	X.37:g.62875563A>C	ENSP00000253401:p.Tyr371Asp		62792288	NM_001173480	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016186	0.75161	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;D;T	0.88509	-0.94;-0.94;-0.94;-0.94;-2.39;-0.94	5.54	5.54	0.83059	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	L	0.43152	1.355	0.80722	D	1	D;P;P;D	0.54207	0.965;0.841;0.928;0.965	P;P;P;P	0.54100	0.742;0.675;0.675;0.675	D	0.90054	0.4151	10	0.56958	D	0.05	.	13.4941	0.61414	1.0:0.0:0.0:0.0	.	318;369;371;371	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	D	371;369;318;269;98;350	ENSP00000253401:Y371D;ENSP00000364012:Y369D;ENSP00000399994:Y318D;ENSP00000364004:Y269D;ENSP00000404478:Y98D;ENSP00000364006:Y350D	ENSP00000253401:Y371D	Y	-	1	0	ARHGEF9	62792288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.635000	0.67841	1.865000	0.54081	0.356000	0.21956	TAT		0.448	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		
AMER1	139285	broad.mit.edu	37	X	63412641	63412641	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:63412641T>C	ENST00000330258.3	-	2	798	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	AMER1_ENST00000403336.1_Missense_Mutation_p.I176V|AMER1_ENST00000374869.3_Missense_Mutation_p.I176V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	176					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.I176V(2)									TGACGGCGGATACTGCTAAAA	0.557																																					p.I176V												.	.	69	Whole gene deletion(67)|Substitution - Missense(2)	kidney(65)|large_intestine(3)|ovary(1)	c.A526G	X						.						55.0	51.0	52.0					X																	63412641		2203	4300	6503	63329366	SO:0001583	missense	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.526A>G	X.37:g.63412641T>C	ENSP00000329117:p.Ile176Val		63329366	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067511	0.55539	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.18016	2.24;2.24;2.24	4.74	4.74	0.60224	.	0.063902	0.64402	D	0.000006	T	0.38799	0.1054	M	0.69823	2.125	0.31366	N	0.680742	D	0.71674	0.998	D	0.70016	0.967	T	0.48490	-0.9031	10	0.62326	D	0.03	-12.3859	12.3652	0.55224	0.0:0.0:0.0:1.0	.	176	Q5JTC6	F123B_HUMAN	V	176	ENSP00000364003:I176V;ENSP00000329117:I176V;ENSP00000384722:I176V	ENSP00000329117:I176V	I	-	1	0	FAM123B	63329366	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.821000	0.55700	1.867000	0.54127	0.486000	0.48141	ATC		0.557	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
ZC4H2	55906	broad.mit.edu	37	X	64140043	64140043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:64140043C>A	ENST00000374839.3	-	3	422	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	ZC4H2_ENST00000337990.2_Nonsense_Mutation_p.E83*|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000545618.1_Nonsense_Mutation_p.E101*|ZC4H2_ENST00000447788.2_Nonsense_Mutation_p.E106*	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	106					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.E106*(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCACATGTTCTTTCAGTGGC	0.483																																					p.E83X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G247T	X						.						184.0	148.0	160.0					X																	64140043		2203	4300	6503	64056768	SO:0001587	stop_gained	55906	exon3			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.316G>T	X.37:g.64140043C>A	ENSP00000363972:p.Glu106*		64056768	NM_001178032	B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Nonsense_Mutation	SNP	ENST00000374839.3	37	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	C	38	7.019187	0.98006	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.15	5.15	0.70609	.	0.095133	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	15.3201	0.74115	0.0:1.0:0.0:0.0	.	.	.	.	X	106;101;106;83	.	ENSP00000338650:E83X	E	-	1	0	ZC4H2	64056768	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.347000	0.79356	2.297000	0.77311	0.529000	0.55759	GAA		0.483	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684	
MSN	4478	broad.mit.edu	37	X	64955211	64955211	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:64955211G>A	ENST00000360270.5	+	8	1050	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	293	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.R293H(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTATACATGCGCCGTCGCAAG	0.557			T	ALK	ALCL																																p.R293H			Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878A	X						.						63.0	44.0	51.0					X																	64955211		2203	4300	6503	64871936	SO:0001583	missense	4478	exon8			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.878G>A	X.37:g.64955211G>A	ENSP00000353408:p.Arg293His		64871936	NM_002444		Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545366	0.96488	.	.	ENSG00000147065	ENST00000360270	D	0.88046	-2.33	5.45	5.45	0.79879	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.047786	0.85682	D	0.000000	D	0.91788	0.7402	M	0.92077	3.27	0.80722	D	1	D	0.57571	0.98	P	0.46320	0.512	D	0.93885	0.7174	10	0.87932	D	0	.	16.7763	0.85551	0.0:0.0:1.0:0.0	.	293	P26038	MOES_HUMAN	H	293	ENSP00000353408:R293H	ENSP00000353408:R293H	R	+	2	0	MSN	64871936	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.756000	0.98918	2.278000	0.76064	0.594000	0.82650	CGC		0.557	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444	
EDA2R	60401	broad.mit.edu	37	X	65824927	65824927	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:65824927C>T	ENST00000374719.3	-	3	285	c.229G>A	c.(229-231)Gct>Act	p.A77T	EDA2R_ENST00000450752.1_Missense_Mutation_p.A77T|EDA2R_ENST00000396050.1_Missense_Mutation_p.A77T|EDA2R_ENST00000253392.5_Missense_Mutation_p.A77T|EDA2R_ENST00000456230.2_Missense_Mutation_p.A77T|EDA2R_ENST00000451436.2_Intron	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	77					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.A77T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TTAGAGGTAGCTGTGCAGTTG	0.522																																					p.A77T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229A	X						.						120.0	73.0	89.0					X																	65824927		2203	4300	6503	65741652	SO:0001583	missense	60401	exon3			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.229G>A	X.37:g.65824927C>T	ENSP00000363851:p.Ala77Thr		65741652	NM_001199687	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	C	8.403	0.842391	0.16963	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000253392;ENST00000456230;ENST00000450752	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	3.9	2.04	0.26737	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.785040	0.10937	N	0.617746	T	0.17280	0.0415	L	0.37630	1.12	0.49483	D	0.999798	P;B;B	0.39480	0.675;0.157;0.014	B;B;B	0.41988	0.372;0.133;0.026	T	0.07927	-1.0747	10	0.32370	T	0.25	0.0418	5.3018	0.15781	0.0:0.4251:0.4451:0.1298	.	77;77;77	Q9HAV5-2;B2RBZ9;Q9HAV5	.;.;TNR27_HUMAN	T	77	ENSP00000363851:A77T;ENSP00000379365:A77T;ENSP00000253392:A77T;ENSP00000393935:A77T;ENSP00000402929:A77T	ENSP00000253392:A77T	A	-	1	0	EDA2R	65741652	0.503000	0.26115	0.926000	0.36857	0.955000	0.61496	1.001000	0.29783	0.160000	0.19432	0.600000	0.82982	GCT		0.522	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783	
DLG3	1741	broad.mit.edu	37	X	69668796	69668796	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:69668796G>A	ENST00000374360.3	+	2	624	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	DLG3_ENST00000194900.4_Missense_Mutation_p.E149K|RNU4-81P_ENST00000363561.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	131	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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.E131K(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CAAATATGAGGAAATCGTACT	0.537																																					p.E131K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G391A	X						.						105.0	84.0	91.0					X																	69668796		2203	4300	6503	69585521	SO:0001583	missense	1741	exon2			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.391G>A	X.37:g.69668796G>A	ENSP00000363480:p.Glu131Lys		69585521	NM_021120	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114091	0.77210	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.39787	2.25;1.06	4.45	4.45	0.53987	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	H	0.94306	3.52	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82568	-0.0392	9	.	.	.	.	15.5014	0.75700	0.0:0.0:1.0:0.0	.	131	Q92796	DLG3_HUMAN	K	149;131	ENSP00000194900:E149K;ENSP00000363480:E131K	.	E	+	1	0	DLG3	69585521	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	7.281000	0.78621	2.196000	0.70406	0.436000	0.28706	GAA		0.537	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	
DLG3	1741	broad.mit.edu	37	X	69719831	69719831	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:69719831G>A	ENST00000374360.3	+	16	2310	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	DLG3_ENST00000374355.3_Missense_Mutation_p.E388K|DLG3_ENST00000194900.4_Missense_Mutation_p.E725K|DLG3_ENST00000542398.1_Missense_Mutation_p.E242K|DLG3_ENST00000461646.1_3'UTR	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	693	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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.E693K(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CAAGTTCATCGAGGCGGGCCA	0.507																																					p.E693K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2077A	X						.						94.0	72.0	79.0					X																	69719831		2203	4300	6503	69636556	SO:0001583	missense	1741	exon16			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.2077G>A	X.37:g.69719831G>A	ENSP00000363480:p.Glu693Lys		69636556	NM_021120	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199165	0.79015	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.51	5.51	0.81932	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	D	0.90974	0.7162	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.94436	0.7654	9	.	.	.	.	17.3388	0.87289	0.0:0.0:1.0:0.0	.	242;388;693	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	K	725;693;388;242	ENSP00000194900:E725K;ENSP00000363480:E693K;ENSP00000363475:E388K;ENSP00000441393:E242K	.	E	+	1	0	DLG3	69636556	1.000000	0.71417	0.845000	0.33349	0.079000	0.17450	9.525000	0.98039	2.566000	0.86566	0.529000	0.55759	GAG		0.507	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	
IL2RG	3561	broad.mit.edu	37	X	70329211	70329211	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:70329211G>A	ENST00000374202.2	-	5	715	c.624C>T	c.(622-624)ttC>ttT	p.F208F	IL2RG_ENST00000456850.2_Silent_p.F18F|CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	208	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)	p.F208F(2)		breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TAGGCAAGGAGAACTTATGTC	0.473									Severe Combined Immunodeficiency, X-linked																												p.F208F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C624T	X						.						104.0	71.0	82.0					X																	70329211		2203	4300	6503	70245936	SO:0001819	synonymous_variant	3561	exon5	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.624C>T	X.37:g.70329211G>A			70245936	NM_000206	Q5FC12	Silent	SNP	ENST00000374202.2	37	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	G	1.221	-0.627015	0.03610	.	.	ENSG00000147168	ENST00000482750	.	.	.	4.88	4.0	0.46444	.	.	.	.	.	T	0.60287	0.2257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57751	-0.7757	4	.	.	.	-6.303	10.101	0.42504	0.0976:0.0:0.9024:0.0	.	.	.	.	F	13	.	.	L	-	1	0	IL2RG	70245936	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	1.851000	0.39338	2.251000	0.74343	0.600000	0.82982	CTC		0.473	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2		
MED12	9968	broad.mit.edu	37	X	70345913	70345913	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:70345913G>A	ENST00000374080.3	+	18	2482	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	MED12_ENST00000374102.1_Missense_Mutation_p.R817H|MED12_ENST00000333646.6_Missense_Mutation_p.R817H			Q93074	MED12_HUMAN	mediator complex subunit 12	817					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R817H(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AAGCGGCGACGCAACCGGCCT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.R817H			Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2450A	X						.						131.0	123.0	125.0					X																	70345913		1985	4128	6113	70262638	SO:0001583	missense	9968	exon18			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2450G>A	X.37:g.70345913G>A	ENSP00000363193:p.Arg817His		70262638	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	13.36	2.212541	0.39102	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.61	4.61	0.57282	.	0.117908	0.51477	D	0.000086	T	0.70894	0.3276	N	0.12569	0.235	0.39502	D	0.968218	P;D;D;P	0.61080	0.937;0.989;0.963;0.939	P;P;P;P	0.53401	0.725;0.466;0.725;0.535	T	0.67818	-0.5572	10	0.14656	T	0.56	-11.5194	10.7047	0.45948	0.1034:0.0:0.8966:0.0	.	817;664;817;817	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	H	817;817;817;817;785	ENSP00000333125:R817H;ENSP00000363215:R817H;ENSP00000363193:R817H;ENSP00000414203:R785H	ENSP00000333125:R817H	R	+	2	0	MED12	70262638	1.000000	0.71417	0.979000	0.43373	0.951000	0.60555	5.908000	0.69916	2.142000	0.66516	0.462000	0.41574	CGC		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
ZMYM3	9203	broad.mit.edu	37	X	70470284	70470284	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:70470284C>T	ENST00000353904.2	-	5	1258	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	ZMYM3_ENST00000373982.1_Silent_p.K359K|ZMYM3_ENST00000373984.3_Silent_p.K359K|ZMYM3_ENST00000314425.5_Silent_p.K357K|ZMYM3_ENST00000373998.1_Silent_p.K357K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.K359K|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373981.1_Silent_p.K357K	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	357					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.K357K(1)		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)					TCACGCACTTCTTGCAGAAGG	0.557																																					p.K357K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1071A	X						.						29.0	24.0	26.0					X																	70470284		2203	4299	6502	70387009	SO:0001819	synonymous_variant	9203	exon5			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.1071G>A	X.37:g.70470284C>T			70387009	NM_001171162	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																				0.557	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
ZMYM3	9203	broad.mit.edu	37	X	70471429	70471429	+	Silent	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:70471429C>T	ENST00000353904.2	-	3	877	c.690G>A	c.(688-690)gcG>gcA	p.A230A	ZMYM3_ENST00000373982.1_Silent_p.A230A|ZMYM3_ENST00000373984.3_Silent_p.A230A|ZMYM3_ENST00000314425.5_Silent_p.A230A|ZMYM3_ENST00000373998.1_Silent_p.A230A|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.A230A|ZMYM3_ENST00000373978.1_Silent_p.A230A|ZMYM3_ENST00000373981.1_Silent_p.A230A	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	230					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.A230A(1)		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)					GCTTCTCACTCGCCTTCGCAG	0.607																																					p.A230A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G690A	X						.						53.0	32.0	39.0					X																	70471429		2200	4293	6493	70388154	SO:0001819	synonymous_variant	9203	exon3			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.690G>A	X.37:g.70471429C>T			70388154	NM_001171162	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																				0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
CXCR3	2833	broad.mit.edu	37	X	70837193	70837193	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:70837193G>A	ENST00000373693.3	-	2	196	c.129C>T	c.(127-129)tgC>tgT	p.C43C	CXCR3_ENST00000373691.4_Silent_p.C90C	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	43					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.C43C(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGTCCTGTGGGCAGGGCGGGG	0.617																																					p.C43C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C129T	X						.						54.0	54.0	54.0					X																	70837193		2203	4300	6503	70753918	SO:0001819	synonymous_variant	2833	exon2			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.129C>T	X.37:g.70837193G>A			70753918	NM_001504	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	ENST00000373693.3	37	CCDS14416.1																																																																																				0.617	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1		
NHSL2	340527	broad.mit.edu	37	X	71359300	71359300	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:71359300C>A	ENST00000373677.1	+	2	2066	c.804C>A	c.(802-804)ttC>ttA	p.F268L	NHSL2_ENST00000510661.1_Missense_Mutation_p.F403L|NHSL2_ENST00000535692.1_Missense_Mutation_p.F268L|NHSL2_ENST00000540800.1_Missense_Mutation_p.F634L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	268								p.F265L(1)|p.F634L(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GTACACAATTCTCCCACCACT	0.522																																					p.F634L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1902A	X						.						149.0	110.0	123.0					X																	71359300		2203	4300	6503	71276025	SO:0001583	missense	340527	exon6					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.804C>A	X.37:g.71359300C>A	ENSP00000362781:p.Phe268Leu		71276025	NM_001013627	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	C	9.847	1.192710	0.21954	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.57273	1.08;0.45;0.41;0.45	5.53	2.81	0.32909	.	0.376523	0.29335	N	0.012451	T	0.45696	0.1355	L	0.56769	1.78	0.37834	D	0.928835	B;B;B	0.11235	0.0;0.004;0.004	B;B;B	0.12156	0.006;0.007;0.007	T	0.40040	-0.9584	10	0.56958	D	0.05	-8.3411	7.4351	0.27150	0.2947:0.624:0.0:0.0813	.	634;403;268	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	L	634;268;403;268	ENSP00000444617:F634L;ENSP00000362781:F268L;ENSP00000424079:F403L;ENSP00000444914:F268L	ENSP00000362781:F268L	F	+	3	2	NHSL2	71276025	0.785000	0.28726	0.985000	0.45067	0.957000	0.61999	0.315000	0.19451	0.162000	0.19483	-0.858000	0.03015	TTC		0.522	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
ERCC6L	54821	broad.mit.edu	37	X	71427103	71427103	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:71427103C>T	ENST00000334463.3	-	2	1649	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.R382Q	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	505	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R505Q(2)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CCCATCGATTCGCAATGTCTT	0.373																																					p.R505Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1514A	X						.						107.0	99.0	102.0					X																	71427103		2203	4300	6503	71343828	SO:0001583	missense	54821	exon2			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1514G>A	X.37:g.71427103C>T	ENSP00000334675:p.Arg505Gln		71343828	NM_017669	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690921	0.48097	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.75704	-0.96;-0.96	5.72	4.86	0.63082	Helicase, C-terminal (3);	.	.	.	.	D	0.86772	0.6013	M	0.86573	2.825	0.43777	D	0.996303	D	0.89917	1.0	D	0.97110	1.0	D	0.88077	0.2804	9	0.87932	D	0	-9.5779	11.3697	0.49692	0.0:0.9106:0.0:0.0894	.	505	Q2NKX8	ERC6L_HUMAN	Q	382;505	ENSP00000362761:R382Q;ENSP00000334675:R505Q	ENSP00000334675:R505Q	R	-	2	0	ERCC6L	71343828	1.000000	0.71417	0.077000	0.20336	0.607000	0.37147	5.816000	0.69222	1.181000	0.42912	0.600000	0.82982	CGA		0.373	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
PHKA1	5255	broad.mit.edu	37	X	71864323	71864323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:71864323C>A	ENST00000373542.4	-	14	1507	c.1348G>T	c.(1348-1350)Gaa>Taa	p.E450*	PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E450*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E450*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.E450*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E450*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	450					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)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.E450*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTCTTGATTTCTTCTGTTTCA	0.378																																					p.E450X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1348T	X						.						138.0	96.0	110.0					X																	71864323		2203	4300	6503	71781048	SO:0001587	stop_gained	5255	exon14				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1348G>T	X.37:g.71864323C>A	ENSP00000362643:p.Glu450*		71781048	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	43	10.339846	0.99387	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.62	5.62	0.85841	.	0.145914	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-13.4921	15.9105	0.79470	0.0:1.0:0.0:0.0	.	.	.	.	X	450	.	ENSP00000342469:E450X	E	-	1	0	PHKA1	71781048	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.910000	0.69931	2.356000	0.79943	0.523000	0.50628	GAA		0.378	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
NAP1L2	4674	broad.mit.edu	37	X	72433916	72433916	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:72433916C>A	ENST00000373517.3	-	1	768	c.413G>T	c.(412-414)aGa>aTa	p.R138I	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	138					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R138I(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AGCAAACTTTCTTTCAATGTC	0.378																																					p.R138I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413T	X						.						141.0	137.0	138.0					X																	72433916		2203	4300	6503	72350641	SO:0001583	missense	4674	exon1			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.413G>T	X.37:g.72433916C>A	ENSP00000362616:p.Arg138Ile		72350641	NM_021963	B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	19.93	3.918345	0.73098	.	.	ENSG00000186462	ENST00000373517	T	0.27720	1.65	3.31	3.31	0.37934	.	0.000000	0.85682	U	0.000000	T	0.49253	0.1546	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.48714	-0.9011	10	0.48119	T	0.1	-0.4997	11.7224	0.51689	0.0:1.0:0.0:0.0	.	138	Q9ULW6	NP1L2_HUMAN	I	138	ENSP00000362616:R138I	ENSP00000362616:R138I	R	-	2	0	NAP1L2	72350641	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.594000	0.67557	1.903000	0.55091	0.600000	0.82982	AGA		0.378	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963	
CHIC1	53344	broad.mit.edu	37	X	72900807	72900807	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:72900807C>A	ENST00000373502.5	+	6	719	c.642C>A	c.(640-642)ttC>ttA	p.F214L	CHIC1_ENST00000373504.6_Missense_Mutation_p.F194L	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	214						cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.F207L(1)		endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					TAATAGAATTCTTACCAAAAT	0.299																																					p.F214L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C642A	X						.						77.0	63.0	68.0					X																	72900807		2086	4046	6132	72817532	SO:0001583	missense	53344	exon6			Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.642C>A	X.37:g.72900807C>A	ENSP00000362601:p.Phe214Leu		72817532	NM_001039840	A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	Missense_Mutation	SNP	ENST00000373502.5	37	CCDS35335.2	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855888	0.71834	.	.	ENSG00000204116	ENST00000373502;ENST00000373504	.	.	.	5.18	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.75447	2.3	0.58432	D	0.999997	P;D	0.63046	0.94;0.992	P;P	0.50659	0.647;0.633	T	0.67776	-0.5583	9	0.56958	D	0.05	-0.997	10.9563	0.47360	0.0:0.9059:0.0:0.0941	.	194;214	Q5VXU3-2;Q5VXU3	.;CHIC1_HUMAN	L	214;194	.	ENSP00000362601:F214L	F	+	3	2	CHIC1	72817532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.614000	0.54160	1.105000	0.41606	0.544000	0.68410	TTC		0.299	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057233.3		
KIAA2022	340533	broad.mit.edu	37	X	73962431	73962431	+	Nonsense_Mutation	SNP	G	G	T	rs267606511		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:73962431G>T	ENST00000055682.6	-	3	2572	c.1961C>A	c.(1960-1962)tCa>tAa	p.S654*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	654					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.S654*(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						ATTACATAATGAAATCTGTTT	0.423																																					p.S654X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1961A	X						.						62.0	51.0	55.0					X																	73962431		2203	4300	6503	73879156	SO:0001587	stop_gained	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.1961C>A	X.37:g.73962431G>T	ENSP00000055682:p.Ser654*		73879156	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	40	8.128186	0.98667	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	5.97	5.97	0.96955	.	1.382770	0.04603	N	0.398859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8876	19.371	0.94484	0.0:0.0:1.0:0.0	.	.	.	.	X	654	.	ENSP00000055682:S654X	S	-	2	0	KIAA2022	73879156	1.000000	0.71417	0.502000	0.27614	0.069000	0.16628	4.675000	0.61619	2.527000	0.85204	0.600000	0.82982	TCA		0.423	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
ABCB7	22	broad.mit.edu	37	X	74273304	74273304	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:74273304C>A	ENST00000373394.3	-	16	2167	c.2160G>T	c.(2158-2160)tgG>tgT	p.W720C	ABCB7_ENST00000339447.4_Missense_Mutation_p.W680C|ABCB7_ENST00000253577.3_Missense_Mutation_p.W721C			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	720					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.W721C(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCTTTGCTTCCCATTTGGGGT	0.418																																					p.W721C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2163T	X						.						128.0	108.0	115.0					X																	74273304		2203	4299	6502	74190029	SO:0001583	missense	22	exon16			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.2160G>T	X.37:g.74273304C>A	ENSP00000362492:p.Trp720Cys		74190029	NM_004299	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	C	8.280	0.815264	0.16607	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.88046	-2.33;-2.28;-2.33;-2.28	5.76	5.76	0.90799	.	0.357748	0.33057	N	0.005326	D	0.84361	0.5455	N	0.08118	0	0.58432	D	0.999996	D;P;D;P;D	0.69078	0.959;0.915;0.997;0.932;0.981	B;P;P;B;P	0.55667	0.213;0.642;0.781;0.105;0.717	D	0.87633	0.2517	10	0.56958	D	0.05	-4.2333	17.8445	0.88725	0.0:1.0:0.0:0.0	.	694;680;721;720;721	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	C	694;721;680;720;694	ENSP00000253577:W721C;ENSP00000343849:W680C;ENSP00000362492:W720C;ENSP00000436586:W694C	ENSP00000253577:W721C	W	-	3	0	ABCB7	74190029	1.000000	0.71417	0.850000	0.33497	0.285000	0.27093	3.438000	0.52871	2.433000	0.82419	0.600000	0.82982	TGG		0.418	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
ABCB7	22	broad.mit.edu	37	X	74280120	74280120	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:74280120T>G	ENST00000373394.3	-	15	1988	c.1981A>C	c.(1981-1983)Att>Ctt	p.I661L	ABCB7_ENST00000339447.4_Missense_Mutation_p.I621L|ABCB7_ENST00000253577.3_Missense_Mutation_p.I662L			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	661	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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.I662L(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCAATGAAAATAGAAGTTCTG	0.353																																					p.I662L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1984C	X						.						122.0	102.0	109.0					X																	74280120		2203	4299	6502	74196845	SO:0001583	missense	22	exon15			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.1981A>C	X.37:g.74280120T>G	ENSP00000362492:p.Ile661Leu		74196845	NM_004299	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	T	10.75	1.439457	0.25900	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.63	4.46	0.54185	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.054634	0.64402	D	0.000001	T	0.47838	0.1467	N	0.11724	0.165	0.37573	D	0.919497	B;B;B;B;B	0.15473	0.002;0.013;0.008;0.001;0.008	B;B;B;B;B	0.30251	0.02;0.113;0.053;0.013;0.079	T	0.40251	-0.9573	10	0.05351	T	0.99	-27.6498	7.6024	0.28083	0.0:0.2443:0.0:0.7557	.	635;621;662;661;662	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	L	635;662;621;661;635	ENSP00000253577:I662L;ENSP00000343849:I621L;ENSP00000362492:I661L;ENSP00000436586:I635L	ENSP00000253577:I662L	I	-	1	0	ABCB7	74196845	0.983000	0.35010	1.000000	0.80357	0.979000	0.70002	1.956000	0.40382	0.753000	0.32945	0.481000	0.45027	ATT		0.353	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
MAGEE1	57692	broad.mit.edu	37	X	75651110	75651110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:75651110G>A	ENST00000361470.2	+	1	3065	c.2787G>A	c.(2785-2787)tgG>tgA	p.W929*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	929	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.W929*(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACAGGACTGGCCACAGCAGT	0.488																																					p.W929X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2787A	X						.						67.0	64.0	65.0					X																	75651110		2203	4300	6503	75567514	SO:0001587	stop_gained	57692	exon1			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2787G>A	X.37:g.75651110G>A	ENSP00000354912:p.Trp929*		75567514	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	40	8.040145	0.98624	.	.	ENSG00000198934	ENST00000361470	.	.	.	2.21	2.21	0.28008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.167	0.25695	0.0:0.0:1.0:0.0	.	.	.	.	X	929	.	ENSP00000354912:W929X	W	+	3	0	MAGEE1	75567514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.592000	0.46171	1.380000	0.46344	0.529000	0.55759	TGG		0.488	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
MAGT1	84061	broad.mit.edu	37	X	77131029	77131029	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:77131029C>A	ENST00000373336.3	-	2	197	c.168G>T	c.(166-168)atG>atT	p.M56I	MAGT1_ENST00000358075.6_Missense_Mutation_p.M88I			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	56	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.M56I(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TGTCTCCATTCATTCTTATTA	0.408																																					p.M88I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G264T	X						.						223.0	204.0	210.0					X																	77131029		2203	4296	6499	77017685	SO:0001583	missense	84061	exon2				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.168G>T	X.37:g.77131029C>A	ENSP00000362433:p.Met56Ile		77017685	NM_032121	B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37		.	.	.	.	.	.	.	.	.	.	C	17.87	3.495566	0.64186	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.16196	2.36;2.36	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.044699	0.85682	U	0.000000	T	0.17874	0.0429	L	0.45422	1.42	0.50039	D	0.999842	B;B	0.24483	0.059;0.104	B;B	0.25987	0.027;0.065	T	0.02813	-1.1107	10	0.32370	T	0.25	-11.3364	15.0881	0.72170	0.0:0.862:0.138:0.0	.	56;88	Q9H0U3;B4DH58	MAGT1_HUMAN;.	I	88;56	ENSP00000354649:M88I;ENSP00000362433:M56I	ENSP00000354649:M88I	M	-	3	0	MAGT1	77017685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.647000	0.67923	2.398000	0.81561	0.600000	0.82982	ATG		0.408	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121	
PGK1	5230	broad.mit.edu	37	X	77378737	77378737	+	Missense_Mutation	SNP	G	G	T	rs137852528		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:77378737G>T	ENST00000373316.4	+	8	969	c.802G>T	c.(802-804)Gac>Tac	p.D268Y	PGK1_ENST00000537456.1_Missense_Mutation_p.D240Y|PGK1_ENST00000442431.1_Missense_Mutation_p.D132Y	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	268			D -> N (in Munchen; 21% of activity). {ECO:0000269|PubMed:7391028, ECO:0000269|PubMed:7440217}.		carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.D268Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GATTGTCAAAGACCTAATGTC	0.448																																					p.D268Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802T	X	GRCh37	CM800013	PGK1	M	rs137852528	.						119.0	88.0	99.0					X																	77378737		2203	4300	6503	77265393	SO:0001583	missense	5230	exon8			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.802G>T	X.37:g.77378737G>T	ENSP00000362413:p.Asp268Tyr		77265393	NM_000291	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105475	0.77096	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.92348	-3.02;-3.02;-3.02	5.28	5.28	0.74379	Phosphoglycerate kinase, C-terminal (1);	0.043228	0.85682	D	0.000000	D	0.94105	0.8110	M	0.76170	2.325	0.53688	D	0.999977	P	0.34892	0.474	P	0.45577	0.486	D	0.94528	0.7733	10	0.87932	D	0	-14.7144	17.1035	0.86656	0.0:0.0:1.0:0.0	.	268	P00558	PGK1_HUMAN	Y	268;132;93;240	ENSP00000362413:D268Y;ENSP00000405452:D132Y;ENSP00000444708:D240Y	ENSP00000362413:D268Y	D	+	1	0	PGK1	77265393	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.208000	0.95075	2.335000	0.79485	0.594000	0.82650	GAC		0.448	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1		
LPAR4	2846	broad.mit.edu	37	X	78010403	78010403	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:78010403G>T	ENST00000435339.3	+	2	423	c.37G>T	c.(37-39)Gat>Tat	p.D13Y		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	13					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.D13Y(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCAATTCCAAGATTCAAATTC	0.448																																					p.D13Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G37T	X						.						130.0	112.0	118.0					X																	78010403		2203	4300	6503	77897059	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.37G>T	X.37:g.78010403G>T	ENSP00000408205:p.Asp13Tyr		77897059	NM_005296	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506814	0.26949	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.36520	1.25;1.25	4.02	4.02	0.46733	.	0.467892	0.15896	U	0.239281	T	0.16257	0.0391	N	0.08118	0	0.33588	D	0.600722	P	0.44734	0.842	B	0.29176	0.099	T	0.26985	-1.0087	10	0.52906	T	0.07	.	12.9495	0.58391	0.0:0.0:1.0:0.0	.	13	Q99677	LPAR4_HUMAN	Y	13	ENSP00000408205:D13Y;ENSP00000362398:D13Y	ENSP00000362398:D13Y	D	+	1	0	LPAR4	77897059	0.974000	0.33945	1.000000	0.80357	0.984000	0.73092	1.104000	0.31074	2.003000	0.58678	0.422000	0.28245	GAT		0.448	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296	
LPAR4	2846	broad.mit.edu	37	X	78010733	78010733	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:78010733T>G	ENST00000435339.3	+	2	753	c.367T>G	c.(367-369)Tat>Gat	p.Y123D		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	123					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.Y123D(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TACCAACATCTATGGGAGCAT	0.438																																					p.Y123D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T367G	X						.						203.0	159.0	174.0					X																	78010733		2203	4299	6502	77897389	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.367T>G	X.37:g.78010733T>G	ENSP00000408205:p.Tyr123Asp		77897389	NM_005296	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940655	0.52972	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.73258	-0.73;-0.73	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.88998	0.6590	H	0.97940	4.11	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.91661	0.5342	10	0.87932	D	0	.	11.3846	0.49778	0.0:0.0:0.0:1.0	.	123	Q99677	LPAR4_HUMAN	D	123	ENSP00000408205:Y123D;ENSP00000362398:Y123D	ENSP00000362398:Y123D	Y	+	1	0	LPAR4	77897389	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.426000	0.80270	1.561000	0.49584	0.345000	0.21793	TAT		0.438	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296	
P2RY10	27334	broad.mit.edu	37	X	78216927	78216927	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:78216927C>A	ENST00000171757.2	+	4	1190	c.910C>A	c.(910-912)Ctt>Att	p.L304I	P2RY10_ENST00000544091.1_Missense_Mutation_p.L304I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L304I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GGATCCAATTCTTTATTACTT	0.488																																					p.L304I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C910A	X						.						181.0	167.0	172.0					X																	78216927		2203	4300	6503	78103583	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.910C>A	X.37:g.78216927C>A	ENSP00000171757:p.Leu304Ile		78103583	NM_198333	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	3.244	-0.154803	0.06544	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.26067	1.76;1.76	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.422461	0.23116	N	0.051754	T	0.20170	0.0485	L	0.33339	1.005	0.39167	D	0.962522	B	0.16802	0.019	B	0.24006	0.05	T	0.07616	-1.0763	10	0.23302	T	0.38	.	11.7427	0.51803	0.1763:0.8237:0.0:0.0	.	304	O00398	P2Y10_HUMAN	I	304	ENSP00000443138:L304I;ENSP00000171757:L304I	ENSP00000171757:L304I	L	+	1	0	P2RY10	78103583	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.842000	0.27627	2.311000	0.77944	0.597000	0.82753	CTT		0.488	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
TBX22	50945	broad.mit.edu	37	X	79281183	79281183	+	Silent	SNP	G	G	A	rs374171441		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:79281183G>A	ENST00000373294.5	+	4	568	c.540G>A	c.(538-540)ccG>ccA	p.P180P	TBX22_ENST00000373296.3_Silent_p.P180P|TBX22_ENST00000373291.1_Silent_p.P60P|TBX22_ENST00000442340.1_Silent_p.P60P	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	180					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.P180P(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						ATGTTCACCCGGACTCACCCT	0.488													G|||	2	0.000529801	0.0008	0.0014	3775	,	,		15815	0.0		0.0	False		,,,				2504	0.0				p.P180P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G540A	X						.	G	,,	0,3835		0,0,1632,571	111.0	79.0	90.0		540,180,540	-2.2	1.0	X		90	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	TBX22	NM_001109878.1,NM_001109879.1,NM_016954.2	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	180/521,60/401,180/521	79281183	1,10562	2203	4300	6503	79167839	SO:0001819	synonymous_variant	50945	exon5			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.540G>A	X.37:g.79281183G>A			79167839	NM_001109878	Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	CCDS14445.1																																																																																				0.488	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
BRWD3	254065	broad.mit.edu	37	X	79932215	79932215	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:79932215A>C	ENST00000373275.4	-	41	5518	c.5302T>G	c.(5302-5304)Ttt>Gtt	p.F1768V	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1768					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.F1768V(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTGGACACAAAATTGTCATTA	0.413																																					p.F1768V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5302G	X						.						82.0	69.0	73.0					X																	79932215		2203	4300	6503	79818871	SO:0001583	missense	254065	exon41				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5302T>G	X.37:g.79932215A>C	ENSP00000362372:p.Phe1768Val		79818871	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665818	0.29604	.	.	ENSG00000165288	ENST00000373275	T	0.52754	0.65	4.24	4.24	0.50183	.	0.245275	0.29868	N	0.010986	T	0.26048	0.0635	N	0.08118	0	0.30925	N	0.727539	B	0.25105	0.118	B	0.19391	0.025	T	0.15925	-1.0420	9	.	.	.	-12.82	12.9298	0.58280	1.0:0.0:0.0:0.0	.	1768	Q6RI45	BRWD3_HUMAN	V	1768	ENSP00000362372:F1768V	.	F	-	1	0	BRWD3	79818871	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.105000	0.64591	1.692000	0.51112	0.417000	0.27973	TTT		0.413	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
BRWD3	254065	broad.mit.edu	37	X	79932281	79932281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:79932281G>A	ENST00000373275.4	-	41	5452	c.5236C>T	c.(5236-5238)Cga>Tga	p.R1746*	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1746					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R1746*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTTAATTCGAGGCAGTCTA	0.413																																					p.R1746X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5236T	X						.						126.0	99.0	108.0					X																	79932281		2203	4300	6503	79818937	SO:0001587	stop_gained	254065	exon41				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5236C>T	X.37:g.79932281G>A	ENSP00000362372:p.Arg1746*		79818937	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	44	10.599548	0.99435	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.1	3.21	0.36854	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1235	10.7747	0.46342	0.0:0.0:0.6566:0.3434	.	.	.	.	X	1746	.	.	R	-	1	2	BRWD3	79818937	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.970000	0.49240	0.843000	0.35070	0.436000	0.28706	CGA		0.413	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
BRWD3	254065	broad.mit.edu	37	X	79932529	79932529	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:79932529C>A	ENST00000373275.4	-	41	5204	c.4988G>T	c.(4987-4989)aGa>aTa	p.R1663I	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1663	Gly-rich.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R1663I(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTTCCAATTTCTTTTTCCATT	0.463																																					p.R1663I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4988T	X						.						290.0	257.0	268.0					X																	79932529		2203	4300	6503	79819185	SO:0001583	missense	254065	exon41				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4988G>T	X.37:g.79932529C>A	ENSP00000362372:p.Arg1663Ile		79819185	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603932	0.28534	.	.	ENSG00000165288	ENST00000373275	T	0.77229	-1.08	4.59	4.59	0.56863	.	0.400156	0.26324	N	0.025034	T	0.54398	0.1856	N	0.08118	0	0.51767	D	0.999932	P	0.40476	0.718	B	0.33750	0.169	T	0.57562	-0.7790	9	.	.	.	-12.4859	12.182	0.54218	0.0:0.8319:0.1681:0.0	.	1663	Q6RI45	BRWD3_HUMAN	I	1663	ENSP00000362372:R1663I	.	R	-	2	0	BRWD3	79819185	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.308000	0.51896	2.117000	0.64856	0.513000	0.50165	AGA		0.463	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
BRWD3	254065	broad.mit.edu	37	X	79932704	79932704	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:79932704C>T	ENST00000373275.4	-	41	5029	c.4813G>A	c.(4813-4815)Gag>Aag	p.E1605K	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1605					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.E1605K(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTCCACTCTCTGAGGTGGAT	0.383																																					p.E1605K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4813A	X						.						106.0	93.0	97.0					X																	79932704		2203	4300	6503	79819360	SO:0001583	missense	254065	exon41				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4813G>A	X.37:g.79932704C>T	ENSP00000362372:p.Glu1605Lys		79819360	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605317	0.46423	.	.	ENSG00000165288	ENST00000373275	T	0.76839	-1.05	4.43	4.43	0.53597	.	0.516425	0.19487	N	0.113078	T	0.62183	0.2407	N	0.22421	0.69	0.37859	D	0.929667	B	0.14012	0.009	B	0.09377	0.004	T	0.59337	-0.7473	9	.	.	.	-9.2816	10.177	0.42943	0.0:0.9055:0.0:0.0945	.	1605	Q6RI45	BRWD3_HUMAN	K	1605	ENSP00000362372:E1605K	.	E	-	1	0	BRWD3	79819360	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.093000	0.50217	2.044000	0.60594	0.506000	0.49869	GAG		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
BRWD3	254065	broad.mit.edu	37	X	79942391	79942391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:79942391G>A	ENST00000373275.4	-	35	4192	c.3976C>T	c.(3976-3978)Cga>Tga	p.R1326*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1326	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R1326*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTGGCTGTCGAAATGGCTCC	0.373																																					p.R1326X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3976T	X						.						160.0	141.0	147.0					X																	79942391		2203	4300	6503	79829047	SO:0001587	stop_gained	254065	exon35				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3976C>T	X.37:g.79942391G>A	ENSP00000362372:p.Arg1326*		79829047	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	44	11.052092	0.99508	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2925	11.0923	0.48123	0.0:0.0:0.6912:0.3088	.	.	.	.	X	1326	.	.	R	-	1	2	BRWD3	79829047	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.446000	0.52928	2.103000	0.63969	0.538000	0.68166	CGA		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
BRWD3	254065	broad.mit.edu	37	X	79978255	79978255	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:79978255T>G	ENST00000373275.4	-	17	1898	c.1682A>C	c.(1681-1683)tAt>tCt	p.Y561S	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	561					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.Y561S(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAGAGGACGATAATCCGTGTG	0.383																																					p.Y561S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1682C	X						.						104.0	92.0	96.0					X																	79978255		2203	4300	6503	79864911	SO:0001583	missense	254065	exon17				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1682A>C	X.37:g.79978255T>G	ENSP00000362372:p.Tyr561Ser		79864911	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449508	0.63178	.	.	ENSG00000165288	ENST00000373275	T	0.42513	0.97	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.67392	0.2888	M	0.90542	3.125	0.45172	D	0.998182	D	0.89917	1.0	D	0.83275	0.996	T	0.72858	-0.4165	9	.	.	.	-14.018	9.0845	0.36572	0.1657:0.0:0.0:0.8343	.	561	Q6RI45	BRWD3_HUMAN	S	561	ENSP00000362372:Y561S	.	Y	-	2	0	BRWD3	79864911	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.469000	0.53093	1.843000	0.53566	0.441000	0.28932	TAT		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
POU3F4	5456	broad.mit.edu	37	X	82763421	82763421	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:82763421C>A	ENST00000373200.2	+	1	153	c.89C>A	c.(88-90)cCt>cAt	p.P30H	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	30					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P30H(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CAGGGGAGTCCTTTCCGCAAC	0.582																																					p.P30H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C89A	X						.						56.0	41.0	46.0					X																	82763421		2203	4300	6503	82650077	SO:0001583	missense	5456	exon1			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.89C>A	X.37:g.82763421C>A	ENSP00000362296:p.Pro30His		82650077	NM_000307	B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356472	0.61293	.	.	ENSG00000196767	ENST00000373200	D	0.85171	-1.95	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	L	0.44542	1.39	0.54753	D	0.999984	D	0.57257	0.979	P	0.51101	0.659	D	0.86653	0.1899	10	0.56958	D	0.05	.	15.2276	0.73361	0.0:1.0:0.0:0.0	.	30	P49335	PO3F4_HUMAN	H	30	ENSP00000362296:P30H	ENSP00000362296:P30H	P	+	2	0	POU3F4	82650077	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.824000	0.75288	2.187000	0.69744	0.597000	0.82753	CCT		0.582	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307	
SATL1	340562	broad.mit.edu	37	X	84362785	84362785	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:84362785C>T	ENST00000395409.3	-	1	1189	c.629G>A	c.(628-630)aGa>aAa	p.R210K	SATL1_ENST00000332921.5_Missense_Mutation_p.R210K|SATL1_ENST00000509231.1_Missense_Mutation_p.R397K			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	210	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.R397K(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCCTACTTGTCTCATGCTTGG	0.537																																					p.R397K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1190A	X						.						197.0	130.0	153.0					X																	84362785		2203	4300	6503	84249441	SO:0001583	missense	340562	exon1			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.629G>A	X.37:g.84362785C>T	ENSP00000378804:p.Arg210Lys		84249441	NM_001012980	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	C	9.561	1.118356	0.20877	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.40225	1.04;1.04;1.04	4.26	-4.71	0.03279	.	.	.	.	.	T	0.22936	0.0554	L	0.46157	1.445	0.09310	N	1	B;B	0.18741	0.018;0.03	B;B	0.15484	0.006;0.013	T	0.40627	-0.9553	9	0.06757	T	0.87	-0.0369	1.4829	0.02441	0.2457:0.1499:0.1209:0.4835	.	210;397	Q86VE3;E9PB72	SATL1_HUMAN;.	K	210;210;397	ENSP00000378804:R210K;ENSP00000329115:R210K;ENSP00000425421:R397K	ENSP00000329115:R210K	R	-	2	0	SATL1	84249441	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.128000	0.10531	-1.247000	0.02507	-0.255000	0.11280	AGA		0.537	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
DACH2	117154	broad.mit.edu	37	X	86069768	86069768	+	Missense_Mutation	SNP	C	C	T	rs375717534		TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:86069768C>T	ENST00000373125.4	+	10	1615	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	DACH2_ENST00000510272.1_Missense_Mutation_p.R320C|DACH2_ENST00000373131.1_Missense_Mutation_p.R526C|DACH2_ENST00000508860.1_Missense_Mutation_p.R372C	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	539					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R539C(2)|p.R526C(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TGAATCAAAGCGCCGGGAGCA	0.438																																					p.R539C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1615T	X						.	C	CYS/ARG,CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	59.0	54.0	55.0		1576,1114,1615	1.8	0.5	X		55	1,6727		0,1,2427,1872	no	missense,missense,missense	DACH2	NM_001139514.1,NM_001139515.1,NM_053281.3	180,180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign,benign	526/572,372/433,539/600	86069768	1,10562	2203	4300	6503	85956424	SO:0001583	missense	117154	exon10			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1615C>T	X.37:g.86069768C>T	ENSP00000362217:p.Arg539Cys		85956424	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291759	0.40594	0.0	1.49E-4	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.88664	-2.41;-2.38	4.76	1.79	0.24919	.	0.000000	0.64402	D	0.000011	D	0.85733	0.5765	M	0.73598	2.24	0.54753	D	0.999988	P;P;B;P	0.45531	0.515;0.86;0.412;0.545	B;B;B;B	0.39531	0.117;0.302;0.071;0.065	T	0.82376	-0.0488	10	0.72032	D	0.01	.	7.3365	0.26613	0.4253:0.4849:0.0:0.0898	.	405;539;526;539	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	C	539;526;539;372;320;372;204	ENSP00000362223:R526C;ENSP00000362217:R539C	ENSP00000345134:R539C	R	+	1	0	DACH2	85956424	1.000000	0.71417	0.501000	0.27601	0.909000	0.53808	1.148000	0.31614	0.280000	0.22209	0.415000	0.27848	CGC		0.438	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
KLHL4	56062	broad.mit.edu	37	X	86890688	86890688	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:86890688C>T	ENST00000373119.4	+	9	1983	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	KLHL4_ENST00000373114.4_Missense_Mutation_p.A613V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	613						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A613V(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						GTGGGAGTTGCCACATACAAT	0.468																																					p.A613V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1838T	X						.						126.0	105.0	112.0					X																	86890688		2203	4300	6503	86777344	SO:0001583	missense	56062	exon9			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.1838C>T	X.37:g.86890688C>T	ENSP00000362211:p.Ala613Val		86777344	NM_057162	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.122221	0.37436	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.76839	-1.05;-1.05	4.23	2.39	0.29439	Galactose oxidase, beta-propeller (1);	0.425282	0.24764	N	0.035799	T	0.71273	0.3320	N	0.16602	0.42	0.45837	D	0.9987	B;B	0.30482	0.281;0.209	B;B	0.43658	0.426;0.298	T	0.70059	-0.4976	10	0.66056	D	0.02	.	12.5974	0.56478	0.0:0.6885:0.3115:0.0	.	613;613	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	V	613	ENSP00000362211:A613V;ENSP00000362206:A613V	ENSP00000362206:A613V	A	+	2	0	KLHL4	86777344	1.000000	0.71417	0.115000	0.21578	0.570000	0.35934	7.069000	0.76755	0.357000	0.24183	-0.274000	0.10170	GCC		0.468	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
TGIF2LX	90316	broad.mit.edu	37	X	89177711	89177711	+	Silent	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:89177711G>A	ENST00000561129.2	+	1	757	c.627G>A	c.(625-627)gaG>gaA	p.E209E	TGIF2LX_ENST00000283891.5_Silent_p.E209E			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E209E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGTCTCCAGAGGAGCACGCCG	0.547																																					p.E209E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	X						.						60.0	64.0	63.0					X																	89177711		2203	4299	6502	89064367	SO:0001819	synonymous_variant	90316	exon2			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.627G>A	X.37:g.89177711G>A			89064367	NM_138960	Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	CCDS14459.1																																																																																				0.547	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960	
PCDH11X	27328	broad.mit.edu	37	X	91090855	91090855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:91090855G>T	ENST00000373094.1	+	1	1197	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.E118*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.E118*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.E118*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.E118*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.E118*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.E118*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.E118*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.E118*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.E118*(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						TTTGCCGGATGAAATATTTAG	0.393																																					p.E118X	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G352T	X						.						72.0	66.0	68.0					X																	91090855		2202	4281	6483	90977511	SO:0001587	stop_gained	27328	exon1			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.352G>T	X.37:g.91090855G>T	ENSP00000362186:p.Glu118*		90977511	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	.	.	.	.	.	.	.	.	.	.	G	37	6.111561	0.97291	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.4133	0.74943	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000298274:E118X	E	+	1	0	PCDH11X	90977511	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.825000	0.92029	2.173000	0.68751	0.506000	0.49869	GAA		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91132720	91132720	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:91132720A>G	ENST00000373094.1	+	2	2326	c.1481A>G	c.(1480-1482)gAc>gGc	p.D494G	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D494G|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D494G|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D494G|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D494G|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D494G|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D494G|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D494G|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D494G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	494	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.D494G(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						ATGGATGCAGACAGTGGGCCT	0.463																																					p.D494G	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1481G	X						.						93.0	74.0	80.0					X																	91132720		2203	4300	6503	91019376	SO:0001583	missense	27328	exon2			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.1481A>G	X.37:g.91132720A>G	ENSP00000362186:p.Asp494Gly		91019376	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	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750607	0.31046	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.38	5.38	0.77491	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96048	3.76	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	0.999;1.0;0.999;0.999;0.999;1.0;0.999;0.999	D	0.92896	0.6335	10	0.87932	D	0	.	13.5121	0.61519	1.0:0.0:0.0:0.0	.	494;494;494;494;494;494;494;494	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	G	494	ENSP00000378746:D494G;ENSP00000362186:D494G;ENSP00000362189:D494G;ENSP00000355040:D494G;ENSP00000362180:D494G;ENSP00000423762:D494G;ENSP00000355105:D494G;ENSP00000384758:D494G;ENSP00000298274:D494G	ENSP00000298274:D494G	D	+	2	0	PCDH11X	91019376	1.000000	0.71417	0.899000	0.35326	0.009000	0.06853	8.999000	0.93557	1.786000	0.52430	0.441000	0.28932	GAC		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91132869	91132869	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:91132869G>T	ENST00000373094.1	+	2	2475	c.1630G>T	c.(1630-1632)Gat>Tat	p.D544Y	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D544Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D544Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D544Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D544Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D544Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D544Y|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D544Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D544Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	544	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.D544Y(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						TCTGGCAAAAGATAACGGGGT	0.383																																					p.D544Y	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1630T	X						.						94.0	89.0	91.0					X																	91132869		2203	4300	6503	91019525	SO:0001583	missense	27328	exon2			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.1630G>T	X.37:g.91132869G>T	ENSP00000362186:p.Asp544Tyr		91019525	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	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187953	0.38609	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.80909	-0.36;-1.43;-1.43;-0.36;-1.43;-0.36;-1.43;-1.43;-1.43	5.38	5.38	0.77491	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.98612	4.28	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96459	0.9340	10	0.87932	D	0	.	17.0331	0.86466	0.0:0.0:1.0:0.0	.	544;544;544;544;544;544;544;544	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Y	544	ENSP00000378746:D544Y;ENSP00000362186:D544Y;ENSP00000362189:D544Y;ENSP00000355040:D544Y;ENSP00000362180:D544Y;ENSP00000423762:D544Y;ENSP00000355105:D544Y;ENSP00000384758:D544Y;ENSP00000298274:D544Y	ENSP00000298274:D544Y	D	+	1	0	PCDH11X	91019525	1.000000	0.71417	0.996000	0.52242	0.295000	0.27426	7.663000	0.83820	2.231000	0.72958	0.544000	0.68410	GAT		0.383	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91133834	91133834	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:91133834A>G	ENST00000373094.1	+	2	3440	c.2595A>G	c.(2593-2595)atA>atG	p.I865M	PCDH11X_ENST00000395337.2_Missense_Mutation_p.I865M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I865M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I865M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I865M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I865M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I865M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.I865M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I865M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	865					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.I865M(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						GGCAGATGATAATGATgaaga	0.413																																					p.I865M	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2595G	X						.						48.0	48.0	48.0					X																	91133834		2203	4296	6499	91020490	SO:0001583	missense	27328	exon2			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.2595A>G	X.37:g.91133834A>G	ENSP00000362186:p.Ile865Met		91020490	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	.	.	.	.	.	.	.	.	.	.	A	3.773	-0.047270	0.07407	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52754	0.65;0.69;0.71;0.65;0.71;0.69;0.68;0.71;0.71	4.64	-0.676	0.11361	Protocadherin (1);	0.111464	0.37906	N	0.001884	T	0.27027	0.0662	L	0.31294	0.92	0.24000	N	0.996216	B;B;B;B;B;B;B;B	0.20550	0.037;0.009;0.037;0.037;0.037;0.046;0.009;0.009	B;B;B;B;B;B;B;B	0.24848	0.033;0.025;0.033;0.033;0.033;0.056;0.025;0.025	T	0.09079	-1.0691	10	0.34782	T	0.22	.	1.609	0.02689	0.3919:0.341:0.0993:0.1678	.	865;865;865;865;865;865;865;865	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	865	ENSP00000378746:I865M;ENSP00000362186:I865M;ENSP00000362189:I865M;ENSP00000355040:I865M;ENSP00000362180:I865M;ENSP00000423762:I865M;ENSP00000355105:I865M;ENSP00000384758:I865M;ENSP00000298274:I865M	ENSP00000298274:I865M	I	+	3	3	PCDH11X	91020490	0.983000	0.35010	0.994000	0.49952	0.880000	0.50808	-0.145000	0.10265	-0.420000	0.07427	-0.316000	0.08728	ATA		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91133907	91133907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:91133907G>T	ENST00000373094.1	+	2	3513	c.2668G>T	c.(2668-2670)Gaa>Taa	p.E890*	PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.E890*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.E890*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.E890*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.E890*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.E890*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.E890*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.E890*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.E890*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	890					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.E890*(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						CACTATTGAAGAAACTAAGGC	0.383																																					p.E890X	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2668T	X						.						110.0	99.0	103.0					X																	91133907		2203	4300	6503	91020563	SO:0001587	stop_gained	27328	exon2			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.2668G>T	X.37:g.91133907G>T	ENSP00000362186:p.Glu890*		91020563	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	.	.	.	.	.	.	.	.	.	.	G	36	5.972196	0.97162	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	5.16	3.39	0.38822	.	0.159566	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	9.6203	0.39716	0.1724:0.0:0.8276:0.0	.	.	.	.	X	890	.	ENSP00000298274:E890X	E	+	1	0	PCDH11X	91020563	1.000000	0.71417	0.889000	0.34880	0.918000	0.54935	6.096000	0.71446	0.405000	0.25532	0.600000	0.82982	GAA		0.383	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
FAM133A	286499	broad.mit.edu	37	X	92964521	92964521	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:92964521A>C	ENST00000355813.5	+	4	629	c.103A>C	c.(103-105)Aat>Cat	p.N35H	FAM133A_ENST00000332647.4_Missense_Mutation_p.N35H|FAM133A_ENST00000322139.4_Missense_Mutation_p.N35H|FAM133A_ENST00000538690.1_Missense_Mutation_p.N35H	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	35								p.N35H(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AGATTATCTAAATCGACCAAG	0.398																																					p.N35H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A103C	X						.						25.0	25.0	25.0					X																	92964521		2195	4286	6481	92851177	SO:0001583	missense	286499	exon5			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.103A>C	X.37:g.92964521A>C	ENSP00000348067:p.Asn35His		92851177	NM_001171110		Missense_Mutation	SNP	ENST00000355813.5	37	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	a	15.04	2.714262	0.48622	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.27	3.27	0.37495	.	0.048820	0.85682	D	0.000000	T	0.58061	0.2096	M	0.74881	2.28	0.23893	N	0.996542	D	0.76494	0.999	D	0.70935	0.971	T	0.47249	-0.9132	10	0.72032	D	0.01	-12.5362	7.2814	0.26314	1.0:0.0:0.0:0.0	.	35	Q8N9E0	F133A_HUMAN	H	35	ENSP00000441389:N35H;ENSP00000348067:N35H;ENSP00000318974:N35H;ENSP00000362169:N35H	ENSP00000318974:N35H	N	+	1	0	FAM133A	92851177	1.000000	0.71417	0.994000	0.49952	0.624000	0.37722	5.146000	0.64845	1.527000	0.49086	0.478000	0.44815	AAT		0.398	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698	
DIAPH2	1730	broad.mit.edu	37	X	95993592	95993592	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:95993592G>A	ENST00000324765.8	+	3	520	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	DIAPH2_ENST00000373054.4_Missense_Mutation_p.R47Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R58Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R58Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R58Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	58					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.R58Q(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						CAGCGTGACCGAATTACAAGT	0.338																																					p.R58Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G173A	X						.						33.0	33.0	33.0					X																	95993592		2202	4299	6501	95880248	SO:0001583	missense	1730	exon3			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.173G>A	X.37:g.95993592G>A	ENSP00000321348:p.Arg58Gln		95880248	NM_006729	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868964	0.72065	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.84370	-1.83;-1.68;-1.78;-1.78;-1.84	5.62	4.76	0.60689	.	0.000000	0.50627	D	0.000115	D	0.89774	0.6812	L	0.54323	1.7	0.37567	D	0.919282	D;D;D	0.76494	0.998;0.996;0.999	D;P;D	0.72625	0.919;0.797;0.978	D	0.91577	0.5276	10	0.72032	D	0.01	.	13.199	0.59756	0.0796:0.0:0.9204:0.0	.	58;58;58	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	Q	58;47;58;58;58;58	ENSP00000362152:R58Q;ENSP00000362145:R47Q;ENSP00000348082:R58Q;ENSP00000362140:R58Q;ENSP00000321348:R58Q	ENSP00000321348:R58Q	R	+	2	0	DIAPH2	95880248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.325000	0.96381	1.132000	0.42129	0.600000	0.82982	CGA		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
DIAPH2	1730	broad.mit.edu	37	X	96167488	96167488	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:96167488A>C	ENST00000324765.8	+	7	1016	c.669A>C	c.(667-669)gaA>gaC	p.E223D	DIAPH2_ENST00000373054.4_Missense_Mutation_p.E219D|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E223D|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E223D|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E223D			O60879	DIAP2_HUMAN	diaphanous-related formin 2	223	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.E223D(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						TTAGGCAAGAAAATATTGACA	0.289																																					p.E223D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A669C	X						.						34.0	32.0	33.0					X																	96167488		2199	4289	6488	96054144	SO:0001583	missense	1730	exon7			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.669A>C	X.37:g.96167488A>C	ENSP00000321348:p.Glu223Asp		96054144	NM_006729	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	9.933	1.215465	0.22373	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.37	2.98	0.34508	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.88555	0.6468	L	0.28649	0.875	0.34539	D	0.710109	P;D;D	0.76494	0.846;0.998;0.999	P;D;D	0.78314	0.651;0.984;0.991	D	0.86446	0.1770	10	0.23891	T	0.37	.	8.905	0.35519	0.8455:0.0:0.1545:0.0	.	223;223;230	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	D	223;219;223;223;223;230	ENSP00000362152:E223D;ENSP00000362145:E219D;ENSP00000348082:E223D;ENSP00000362140:E223D;ENSP00000321348:E223D	ENSP00000321348:E223D	E	+	3	2	DIAPH2	96054144	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	2.668000	0.46816	0.215000	0.20761	0.345000	0.21793	GAA		0.289	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
PCDH19	57526	broad.mit.edu	37	X	99551849	99551849	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:99551849C>T	ENST00000373034.4	-	6	4548	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	PCDH19_ENST00000255531.7_Missense_Mutation_p.R911Q|PCDH19_ENST00000420881.2_Missense_Mutation_p.R910Q|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	958			R -> Q. {ECO:0000269|PubMed:19752159}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R958Q(1)|p.R411Q(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCATTCTTCCCGGCAATGAAA	0.483													C|||	1	0.000264901	0.0	0.0	3775	,	,		13716	0.0		0.0	False		,,,				2504	0.001				p.R911Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2732A	X						.						52.0	49.0	50.0					X																	99551849		1964	4134	6098	99438505	SO:0001583	missense	57526	exon5			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2873G>A	X.37:g.99551849C>T	ENSP00000362125:p.Arg958Gln		99438505	NM_001105243	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132150	0.37630	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51817	0.7;0.75;0.69	5.84	5.84	0.93424	.	0.167690	0.53938	D	0.000047	T	0.37865	0.1019	L	0.27053	0.805	0.47065	D	0.999301	B;B;B	0.26258	0.123;0.145;0.089	B;B;B	0.20384	0.014;0.029;0.013	T	0.10497	-1.0627	10	0.27082	T	0.32	.	18.7331	0.91742	0.0:1.0:0.0:0.0	.	958;911;910	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	910;958;911	ENSP00000400327:R910Q;ENSP00000362125:R958Q;ENSP00000255531:R911Q	ENSP00000255531:R911Q	R	-	2	0	PCDH19	99438505	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.742000	0.55097	2.469000	0.83416	0.600000	0.82982	CGG		0.483	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
PCDH19	57526	broad.mit.edu	37	X	99663001	99663001	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:99663001C>T	ENST00000373034.4	-	1	2270	c.595G>A	c.(595-597)Gag>Aag	p.E199K	PCDH19_ENST00000255531.7_Missense_Mutation_p.E199K|PCDH19_ENST00000420881.2_Missense_Mutation_p.E199K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	199	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> Q (in EIEE9; disease features overlapping with Dravet syndrome). {ECO:0000269|PubMed:19214208}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E199K(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACTGCGTCTCGCGGTCCAGG	0.632																																					p.E199K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G595A	X						.						48.0	52.0	51.0					X																	99663001		2154	4223	6377	99549657	SO:0001583	missense	57526	exon1			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.595G>A	X.37:g.99663001C>T	ENSP00000362125:p.Glu199Lys		99549657	NM_001105243	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870126	0.91587	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.72394	-0.65;-0.65;-0.65	5.8	5.8	0.92144	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.91914	0.5542	10	0.87932	D	0	.	19.0113	0.92874	0.0:1.0:0.0:0.0	.	199;199;199	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	199	ENSP00000400327:E199K;ENSP00000362125:E199K;ENSP00000255531:E199K	ENSP00000255531:E199K	E	-	1	0	PCDH19	99549657	1.000000	0.71417	0.909000	0.35828	0.905000	0.53344	7.818000	0.86416	2.439000	0.82584	0.544000	0.68410	GAG		0.632	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
PCDH19	57526	broad.mit.edu	37	X	99663055	99663055	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:99663055G>A	ENST00000373034.4	-	1	2216	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	PCDH19_ENST00000255531.7_Missense_Mutation_p.R181C|PCDH19_ENST00000420881.2_Missense_Mutation_p.R181C	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	181	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(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCGTCGCCGCGCGTCTTGATC	0.617																																					p.R181C												.	.	0			c.C541T	X						.						35.0	38.0	37.0					X																	99663055		2086	4176	6262	99549711	SO:0001583	missense	57526	exon1			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.541C>T	X.37:g.99663055G>A	ENSP00000362125:p.Arg181Cys		99549711	NM_001105243	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892009	0.52014	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.20463	2.07;2.07;2.07	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.57136	-0.7863	10	0.87932	D	0	.	13.725	0.62752	0.0:0.0:0.8463:0.1537	.	181;181;181	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	C	181	ENSP00000400327:R181C;ENSP00000362125:R181C;ENSP00000255531:R181C	ENSP00000255531:R181C	R	-	1	0	PCDH19	99549711	1.000000	0.71417	0.471000	0.27229	0.949000	0.60115	3.418000	0.52721	2.385000	0.81259	0.544000	0.68410	CGC		0.617	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
FUNDC2	65991	broad.mit.edu	37	X	154261691	154261691	+	Silent	SNP	A	A	C			TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3984-01A-02W-0995-10	TCGA-AA-3984-10A-01W-0999-10	g.chrX:154261691A>C	ENST00000369498.3	+	2	401	c.147A>C	c.(145-147)ggA>ggC	p.G49G	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	49						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.G49G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTTGAGGGAAATTTTGAGT	0.368																																					p.G49G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A147C	X						.						70.0	68.0	69.0					X																	154261691		2203	4300	6503	153914885	SO:0001819	synonymous_variant	65991	exon2			AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.147A>C	X.37:g.154261691A>C			153914885	NM_023934	B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	ENST00000369498.3	37	CCDS14763.1																																																																																				0.368	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934	
